From 9b832581474bcf7a590c0c169c8af285b5502ac0 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 09:03:00 +0100 Subject: [PATCH 01/10] feat: parsing panelapp using swagger-codegen models (#225) --- openapis/panelapp.json | 1876 +++++++++++++++++ src/genes/cli/{data.rs => data/mod.rs} | 2 + src/genes/cli/data/panelapp/activity.rs | 205 ++ src/genes/cli/data/panelapp/evaluation.rs | 189 ++ src/genes/cli/data/panelapp/gene.rs | 264 +++ .../cli/data/panelapp/historical_snapshot.rs | 65 + .../cli/data/panelapp/inline_response_200.rs | 102 + .../data/panelapp/inline_response_200_1.rs | 102 + .../data/panelapp/inline_response_200_2.rs | 102 + .../data/panelapp/inline_response_200_3.rs | 102 + .../data/panelapp/inline_response_200_4.rs | 102 + .../data/panelapp/inline_response_200_5.rs | 102 + .../data/panelapp/inline_response_200_6.rs | 102 + .../data/panelapp/inline_response_200_7.rs | 102 + src/genes/cli/data/panelapp/mod.rs | 39 + src/genes/cli/data/panelapp/panel.rs | 243 +++ src/genes/cli/data/panelapp/panel_type.rs | 82 + src/genes/cli/data/panelapp/region.rs | 397 ++++ src/genes/cli/data/panelapp/str.rs | 331 +++ 19 files changed, 4509 insertions(+) create mode 100644 openapis/panelapp.json rename src/genes/cli/{data.rs => data/mod.rs} (99%) create mode 100644 src/genes/cli/data/panelapp/activity.rs create mode 100644 src/genes/cli/data/panelapp/evaluation.rs create mode 100644 src/genes/cli/data/panelapp/gene.rs create mode 100644 src/genes/cli/data/panelapp/historical_snapshot.rs create mode 100644 src/genes/cli/data/panelapp/inline_response_200.rs create mode 100644 src/genes/cli/data/panelapp/inline_response_200_1.rs create mode 100644 src/genes/cli/data/panelapp/inline_response_200_2.rs create mode 100644 src/genes/cli/data/panelapp/inline_response_200_3.rs create mode 100644 src/genes/cli/data/panelapp/inline_response_200_4.rs create mode 100644 src/genes/cli/data/panelapp/inline_response_200_5.rs create mode 100644 src/genes/cli/data/panelapp/inline_response_200_6.rs create mode 100644 src/genes/cli/data/panelapp/inline_response_200_7.rs create mode 100644 src/genes/cli/data/panelapp/mod.rs create mode 100644 src/genes/cli/data/panelapp/panel.rs create mode 100644 src/genes/cli/data/panelapp/panel_type.rs create mode 100644 src/genes/cli/data/panelapp/region.rs create mode 100644 src/genes/cli/data/panelapp/str.rs diff --git a/openapis/panelapp.json b/openapis/panelapp.json new file mode 100644 index 00000000..789cb597 --- /dev/null +++ b/openapis/panelapp.json @@ -0,0 +1,1876 @@ +{ + "swagger": "2.0", + "info": { + "title": "PanelApp API", + "description": "PanelApp API", + "termsOfService": "https://panelapp.genomicsengland.co.uk/policies/terms/", + "contact": { + "email": "panelapp@genomicsengland.co.uk" + }, + "version": "v1" + }, + "host": "panelapp.genomicsengland.co.uk", + "schemes": [ + "https" + ], + "basePath": "/api/v1", + "consumes": [ + "application/json" + ], + "produces": [ + "application/json" + ], + "securityDefinitions": { + "api_key": { + "type": "apiKey", + "in": "header", + "name": "Authorization", + "description": "Format: \"Token your token\". You can find API token in your profile page" + } + }, + "security": [ + { + "api_key": [] + } + ], + "paths": { + "/activities/": { + "get": { + "operationId": "activities_list", + "description": "", + "parameters": [ + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Activity" + } + } + } + } + } + }, + "tags": [ + "activities" + ] + }, + "parameters": [] + }, + "/entities/": { + "get": { + "operationId": "entities_list", + "description": "Search Entities", + "parameters": [ + { + "name": "type", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "tags", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "entity_name", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "type": "string" + } + } + } + } + } + }, + "tags": [ + "entities" + ] + }, + "parameters": [] + }, + "/entities/{entity_name}/": { + "get": { + "operationId": "entities_read", + "description": "Search Entities", + "parameters": [], + "responses": { + "200": { + "description": "", + "schema": { + "type": "string" + } + } + }, + "tags": [ + "entities" + ] + }, + "parameters": [ + { + "name": "entity_name", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/genes/": { + "get": { + "operationId": "genes_list", + "description": "Search Genes", + "parameters": [ + { + "name": "type", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "tags", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "entity_name", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Gene" + } + } + } + } + } + }, + "tags": [ + "genes" + ] + }, + "parameters": [] + }, + "/genes/{entity_name}/": { + "get": { + "operationId": "genes_read", + "description": "Search Genes", + "parameters": [], + "responses": { + "200": { + "description": "", + "schema": { + "$ref": "#/definitions/Gene" + } + } + }, + "tags": [ + "genes" + ] + }, + "parameters": [ + { + "name": "entity_name", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/": { + "get": { + "operationId": "panels_list", + "description": "", + "parameters": [ + { + "name": "type", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Panel" + } + } + } + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [] + }, + "/panels/signedoff/": { + "get": { + "operationId": "panels_signedoff_list", + "summary": "Signed Off Panels Versions", + "description": "By default only the latest versions on public panels are returned.\n\nTo get all public and retired panels use `display=all` URL parameter.\nThis also returns previous versions for the panels.\n\nYou can also filter by `panel_id` to return only the versions for a\nspecific panel. To get all versions for a panel use both `display=all`\nand `panel_id` together.", + "parameters": [ + { + "name": "panel_id", + "in": "query", + "description": "", + "required": false, + "type": "string" + }, + { + "name": "display", + "in": "query", + "description": "", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/HistoricalSnapshot" + } + } + } + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [] + }, + "/panels/signedoff/{id}/": { + "get": { + "operationId": "panels_signedoff_read", + "summary": "!!! Deprecated - see notes", + "description": "Instead, use list of signed off panels endpoint with `panel_id=`\nparameter to get the latest version, and then use\n`/api/v1/panels//?version=.` to get\nthe panel data.\n\nThis endpoint will be removed in the second part of 2021.", + "parameters": [], + "responses": { + "200": { + "description": "", + "schema": { + "$ref": "#/definitions/HistoricalSnapshot" + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "id", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{id}/": { + "get": { + "operationId": "panels_read", + "summary": "Get individual Panel data", + "description": "In addition to the model fields this endpoint also returns `genes`, `strs`, `regions` associated with this panel.\n\nAdditional parameters:\n\n?version=1.1 - get a specific version for this panel", + "parameters": [], + "responses": { + "200": { + "description": "", + "schema": { + "$ref": "#/definitions/Panel" + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "id", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{id}/activities/": { + "get": { + "operationId": "panels_activities", + "description": "", + "parameters": [], + "responses": { + "200": { + "description": "", + "schema": { + "$ref": "#/definitions/Panel" + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "id", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{id}/versions/": { + "get": { + "operationId": "panels_versions", + "description": "", + "parameters": [], + "responses": { + "200": { + "description": "", + "schema": { + "$ref": "#/definitions/Panel" + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "id", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{panel_pk}/genes/": { + "get": { + "operationId": "panels_genes_list", + "description": "", + "parameters": [ + { + "name": "entity_name", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "confidence_level", + "in": "query", + "description": "Filter by confidence level: 0, 1, 2, 3", + "required": false, + "type": "string" + }, + { + "name": "version", + "in": "query", + "description": "Panel version", + "required": false, + "type": "string" + }, + { + "name": "tags", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Gene" + } + } + } + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "panel_pk", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{panel_pk}/genes/{gene_entity_name}/evaluations/": { + "get": { + "operationId": "panels_genes_evaluations_list", + "description": "", + "parameters": [ + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Evaluation" + } + } + } + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "gene_entity_name", + "in": "path", + "required": true, + "type": "string" + }, + { + "name": "panel_pk", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{panel_pk}/regions/": { + "get": { + "operationId": "panels_regions_list", + "description": "", + "parameters": [ + { + "name": "entity_name", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "confidence_level", + "in": "query", + "description": "Filter by confidence level: 0, 1, 2, 3", + "required": false, + "type": "string" + }, + { + "name": "version", + "in": "query", + "description": "Panel version", + "required": false, + "type": "string" + }, + { + "name": "tags", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Region" + } + } + } + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "panel_pk", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{panel_pk}/regions/{region_entity_name}/evaluations/": { + "get": { + "operationId": "panels_regions_evaluations_list", + "description": "", + "parameters": [ + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Evaluation" + } + } + } + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "panel_pk", + "in": "path", + "required": true, + "type": "string" + }, + { + "name": "region_entity_name", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{panel_pk}/strs/": { + "get": { + "operationId": "panels_strs_list", + "description": "", + "parameters": [ + { + "name": "entity_name", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "confidence_level", + "in": "query", + "description": "Filter by confidence level: 0, 1, 2, 3", + "required": false, + "type": "string" + }, + { + "name": "version", + "in": "query", + "description": "Panel version", + "required": false, + "type": "string" + }, + { + "name": "tags", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/STR" + } + } + } + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "panel_pk", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/panels/{panel_pk}/strs/{str_entity_name}/evaluations/": { + "get": { + "operationId": "panels_strs_evaluations_list", + "description": "", + "parameters": [ + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Evaluation" + } + } + } + } + } + }, + "tags": [ + "panels" + ] + }, + "parameters": [ + { + "name": "panel_pk", + "in": "path", + "required": true, + "type": "string" + }, + { + "name": "str_entity_name", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/regions/": { + "get": { + "operationId": "regions_list", + "description": "Search Regions", + "parameters": [ + { + "name": "type", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "tags", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "entity_name", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/Region" + } + } + } + } + } + }, + "tags": [ + "regions" + ] + }, + "parameters": [] + }, + "/regions/{entity_name}/": { + "get": { + "operationId": "regions_read", + "description": "Search Regions", + "parameters": [], + "responses": { + "200": { + "description": "", + "schema": { + "$ref": "#/definitions/Region" + } + } + }, + "tags": [ + "regions" + ] + }, + "parameters": [ + { + "name": "entity_name", + "in": "path", + "required": true, + "type": "string" + } + ] + }, + "/strs/": { + "get": { + "operationId": "strs_list", + "description": "Search STRs", + "parameters": [ + { + "name": "type", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "tags", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "entity_name", + "in": "query", + "description": "Multiple values may be separated by commas.", + "required": false, + "type": "string" + }, + { + "name": "page", + "in": "query", + "description": "A page number within the paginated result set.", + "required": false, + "type": "integer" + } + ], + "responses": { + "200": { + "description": "", + "schema": { + "required": [ + "count", + "results" + ], + "type": "object", + "properties": { + "count": { + "type": "integer" + }, + "next": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "previous": { + "type": "string", + "format": "uri", + "x-nullable": true + }, + "results": { + "type": "array", + "items": { + "$ref": "#/definitions/STR" + } + } + } + } + } + }, + "tags": [ + "strs" + ] + }, + "parameters": [] + }, + "/strs/{entity_name}/": { + "get": { + "operationId": "strs_read", + "description": "Search STRs", + "parameters": [], + "responses": { + "200": { + "description": "", + "schema": { + "$ref": "#/definitions/STR" + } + } + }, + "tags": [ + "strs" + ] + }, + "parameters": [ + { + "name": "entity_name", + "in": "path", + "required": true, + "type": "string" + } + ] + } + }, + "definitions": { + "Activity": { + "required": [ + "text" + ], + "type": "object", + "properties": { + "created": { + "title": "Created", + "type": "string", + "format": "date-time", + "readOnly": true + }, + "panel_name": { + "title": "Panel name", + "type": "string", + "readOnly": true + }, + "panel_id": { + "title": "Panel id", + "type": "string", + "readOnly": true + }, + "panel_version": { + "title": "Panel version", + "type": "string", + "readOnly": true + }, + "user_name": { + "title": "User name", + "type": "string", + "readOnly": true + }, + "item_type": { + "title": "Item type", + "type": "string", + "maxLength": 32, + "minLength": 1, + "x-nullable": true + }, + "text": { + "title": "Text", + "type": "string", + "minLength": 1 + }, + "entity_name": { + "title": "Entity name", + "type": "string", + "maxLength": 128, + "minLength": 1, + "x-nullable": true + }, + "entity_type": { + "title": "Entity type", + "type": "string", + "maxLength": 32, + "minLength": 1, + "x-nullable": true + } + } + }, + "PanelType": { + "required": [ + "name", + "description" + ], + "type": "object", + "properties": { + "name": { + "title": "Name", + "type": "string", + "maxLength": 128, + "minLength": 1 + }, + "slug": { + "title": "Slug", + "type": "string", + "format": "slug", + "pattern": "^[-a-zA-Z0-9_]+$", + "readOnly": true, + "minLength": 1 + }, + "description": { + "title": "Description", + "type": "string", + "minLength": 1 + } + } + }, + "Panel": { + "required": [ + "id", + "relevant_disorders" + ], + "type": "object", + "properties": { + "id": { + "title": "Id", + "type": "integer" + }, + "hash_id": { + "title": "Hash id", + "type": "string", + "readOnly": true + }, + "name": { + "title": "Name", + "type": "string", + "readOnly": true + }, + "disease_group": { + "title": "Disease group", + "type": "string", + "readOnly": true + }, + "disease_sub_group": { + "title": "Disease sub group", + "type": "string", + "readOnly": true + }, + "status": { + "title": "Status", + "type": "string", + "readOnly": true + }, + "version": { + "title": "Version", + "type": "string", + "readOnly": true, + "minLength": 1 + }, + "version_created": { + "title": "Version created", + "type": "string", + "format": "date-time", + "readOnly": true + }, + "relevant_disorders": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "stats": { + "title": "Stats", + "description": "Object with panel statistics (number of genes or STRs)", + "type": "object", + "readOnly": true + }, + "types": { + "type": "array", + "items": { + "$ref": "#/definitions/PanelType" + }, + "readOnly": true + } + }, + "x-nullable": true + }, + "Gene": { + "required": [ + "entity_type", + "entity_name", + "confidence_level", + "publications", + "evidence", + "phenotypes", + "mode_of_inheritance", + "transcript" + ], + "type": "object", + "properties": { + "gene_data": { + "title": "Gene data", + "type": "object", + "readOnly": true + }, + "entity_type": { + "title": "Entity type", + "type": "string", + "minLength": 1 + }, + "entity_name": { + "title": "Entity name", + "type": "string", + "minLength": 1 + }, + "confidence_level": { + "title": "Confidence level", + "type": "string", + "minLength": 1 + }, + "penetrance": { + "title": "Penetrance", + "type": "string", + "enum": [ + "unknown", + "Complete", + "Incomplete" + ], + "x-nullable": true + }, + "mode_of_pathogenicity": { + "title": "Mode of pathogenicity", + "type": "string", + "enum": [ + "", + "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", + "Other" + ], + "x-nullable": true + }, + "publications": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "evidence": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "phenotypes": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "mode_of_inheritance": { + "title": "Mode of inheritance", + "type": "string", + "minLength": 1 + }, + "tags": { + "type": "array", + "items": { + "type": "string" + }, + "readOnly": true, + "uniqueItems": true + }, + "panel": { + "$ref": "#/definitions/Panel" + }, + "transcript": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + } + } + }, + "HistoricalSnapshot": { + "required": [ + "data" + ], + "type": "object", + "properties": { + "data": { + "title": "Data", + "type": "object" + }, + "signed_off_date": { + "title": "Signed off date", + "type": "string", + "format": "date", + "x-nullable": true + } + } + }, + "Evaluation": { + "type": "object", + "properties": { + "created": { + "title": "Created", + "type": "string", + "format": "date-time", + "readOnly": true + }, + "rating": { + "title": "Rating", + "type": "string", + "enum": [ + "GREEN", + "RED", + "AMBER" + ] + }, + "mode_of_pathogenicity": { + "title": "Mode of pathogenicity", + "type": "string", + "enum": [ + "", + "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", + "Other" + ], + "x-nullable": true + }, + "publications": { + "type": "array", + "items": { + "title": "Publications", + "type": "string", + "minLength": 1 + }, + "x-nullable": true + }, + "phenotypes": { + "type": "array", + "items": { + "title": "Phenotypes", + "type": "string", + "minLength": 1 + }, + "x-nullable": true + }, + "moi": { + "title": "Mode of Inheritance", + "type": "string", + "enum": [ + "", + "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", + "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)", + "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", + "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", + "BIALLELIC, autosomal or pseudoautosomal", + "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", + "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", + "X-LINKED: hemizygous mutation in males, biallelic mutations in females", + "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", + "MITOCHONDRIAL", + "Unknown", + "Other" + ], + "x-nullable": true + }, + "current_diagnostic": { + "title": "Current diagnostic", + "type": "boolean" + }, + "clinically_relevant": { + "title": "Clinically relevant", + "description": "Interruptions in the repeated sequence are reported as part of standard diagnostic practise", + "type": "boolean", + "x-nullable": true + } + } + }, + "Region": { + "required": [ + "entity_type", + "entity_name", + "confidence_level", + "required_overlap_percentage", + "publications", + "evidence", + "phenotypes", + "mode_of_inheritance", + "chromosome", + "grch37_coordinates", + "grch38_coordinates" + ], + "type": "object", + "properties": { + "gene_data": { + "title": "Gene data", + "type": "object", + "readOnly": true + }, + "entity_type": { + "title": "Entity type", + "type": "string", + "minLength": 1 + }, + "entity_name": { + "title": "Entity name", + "type": "string", + "minLength": 1 + }, + "verbose_name": { + "title": "Verbose name", + "description": "Region Name", + "type": "string", + "maxLength": 256, + "x-nullable": true + }, + "confidence_level": { + "title": "Confidence level", + "type": "string", + "minLength": 1 + }, + "penetrance": { + "title": "Penetrance", + "type": "string", + "enum": [ + "unknown", + "Complete", + "Incomplete" + ], + "x-nullable": true + }, + "mode_of_pathogenicity": { + "title": "Mode of pathogenicity", + "type": "string", + "enum": [ + "", + "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", + "Other" + ], + "x-nullable": true + }, + "haploinsufficiency_score": { + "title": "Haploinsufficiency score", + "type": "string", + "enum": [ + "", + "3", + "2", + "1", + "0", + "40", + "30" + ], + "x-nullable": true + }, + "triplosensitivity_score": { + "title": "Triplosensitivity score", + "type": "string", + "enum": [ + "", + "3", + "2", + "1", + "0", + "40", + "30" + ], + "x-nullable": true + }, + "required_overlap_percentage": { + "title": "Required overlap percentage", + "description": "Required percent of overlap", + "type": "integer", + "maximum": 100, + "minimum": 0 + }, + "type_of_variants": { + "title": "Variation type", + "type": "string", + "enum": [ + "small", + "cnv_loss", + "cnv_gain", + "cnv_both" + ] + }, + "publications": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "evidence": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "phenotypes": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "mode_of_inheritance": { + "title": "Mode of inheritance", + "type": "string", + "minLength": 1 + }, + "chromosome": { + "title": "Chromosome", + "type": "string", + "enum": [ + "1", + "2", + "3", + "4", + "5", + "6", + "7", + "8", + "9", + "10", + "11", + "12", + "13", + "14", + "15", + "16", + "17", + "18", + "19", + "20", + "21", + "22", + "X", + "Y" + ] + }, + "grch37_coordinates": { + "type": "array", + "items": { + "type": "integer" + }, + "maxItems": 2, + "minItems": 2 + }, + "grch38_coordinates": { + "type": "array", + "items": { + "type": "integer" + }, + "maxItems": 2, + "minItems": 2 + }, + "tags": { + "type": "array", + "items": { + "type": "string" + }, + "readOnly": true, + "uniqueItems": true + }, + "panel": { + "$ref": "#/definitions/Panel" + } + } + }, + "STR": { + "required": [ + "entity_type", + "entity_name", + "confidence_level", + "publications", + "evidence", + "phenotypes", + "mode_of_inheritance", + "repeated_sequence", + "chromosome", + "grch37_coordinates", + "grch38_coordinates", + "normal_repeats", + "pathogenic_repeats" + ], + "type": "object", + "properties": { + "gene_data": { + "title": "Gene data", + "type": "object", + "readOnly": true + }, + "entity_type": { + "title": "Entity type", + "type": "string", + "minLength": 1 + }, + "entity_name": { + "title": "Entity name", + "type": "string", + "minLength": 1 + }, + "confidence_level": { + "title": "Confidence level", + "type": "string", + "minLength": 1 + }, + "penetrance": { + "title": "Penetrance", + "type": "string", + "enum": [ + "unknown", + "Complete", + "Incomplete" + ], + "x-nullable": true + }, + "publications": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "evidence": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "phenotypes": { + "type": "array", + "items": { + "type": "string", + "x-nullable": true + } + }, + "mode_of_inheritance": { + "title": "Mode of inheritance", + "type": "string", + "minLength": 1 + }, + "repeated_sequence": { + "title": "Repeated sequence", + "type": "string", + "maxLength": 128, + "minLength": 1 + }, + "chromosome": { + "title": "Chromosome", + "type": "string", + "enum": [ + "1", + "2", + "3", + "4", + "5", + "6", + "7", + "8", + "9", + "10", + "11", + "12", + "13", + "14", + "15", + "16", + "17", + "18", + "19", + "20", + "21", + "22", + "X", + "Y" + ] + }, + "grch37_coordinates": { + "type": "array", + "items": { + "type": "integer" + }, + "maxItems": 2, + "minItems": 2 + }, + "grch38_coordinates": { + "type": "array", + "items": { + "type": "integer" + }, + "maxItems": 2, + "minItems": 2 + }, + "normal_repeats": { + "title": "Normal", + "description": "=< Maximum normal number of repeats", + "type": "integer", + "maximum": 2147483647, + "minimum": -2147483648 + }, + "pathogenic_repeats": { + "title": "Pathogenic", + "description": ">= Minimum fully penetrant pathogenic number of repeats", + "type": "integer", + "maximum": 2147483647, + "minimum": -2147483648 + }, + "tags": { + "type": "array", + "items": { + "type": "string" + }, + "readOnly": true, + "uniqueItems": true + }, + "panel": { + "$ref": "#/definitions/Panel" + } + } + } + } +} diff --git a/src/genes/cli/data.rs b/src/genes/cli/data/mod.rs similarity index 99% rename from src/genes/cli/data.rs rename to src/genes/cli/data/mod.rs index ae2817c3..11bb7ac3 100644 --- a/src/genes/cli/data.rs +++ b/src/genes/cli/data/mod.rs @@ -1,5 +1,7 @@ //! Code for loading gene-related data from the TSV. +pub mod panelapp; + use serde::{Deserialize, Serialize}; /// Entry in the genes RocksDB database. diff --git a/src/genes/cli/data/panelapp/activity.rs b/src/genes/cli/data/panelapp/activity.rs new file mode 100644 index 00000000..d7419b46 --- /dev/null +++ b/src/genes/cli/data/panelapp/activity.rs @@ -0,0 +1,205 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct Activity { + #[serde(rename = "created")] + created: Option, + #[serde(rename = "panel_name")] + panel_name: Option, + #[serde(rename = "panel_id")] + panel_id: Option, + #[serde(rename = "panel_version")] + panel_version: Option, + #[serde(rename = "user_name")] + user_name: Option, + #[serde(rename = "item_type")] + item_type: Option, + #[serde(rename = "text")] + text: String, + #[serde(rename = "entity_name")] + entity_name: Option, + #[serde(rename = "entity_type")] + entity_type: Option +} + +impl Activity { + pub fn new(text: String) -> Activity { + Activity { + created: None, + panel_name: None, + panel_id: None, + panel_version: None, + user_name: None, + item_type: None, + text: text, + entity_name: None, + entity_type: None + } + } + + pub fn set_created(&mut self, created: String) { + self.created = Some(created); + } + + pub fn with_created(mut self, created: String) -> Activity { + self.created = Some(created); + self + } + + pub fn created(&self) -> Option<&String> { + self.created.as_ref() + } + + pub fn reset_created(&mut self) { + self.created = None; + } + + pub fn set_panel_name(&mut self, panel_name: String) { + self.panel_name = Some(panel_name); + } + + pub fn with_panel_name(mut self, panel_name: String) -> Activity { + self.panel_name = Some(panel_name); + self + } + + pub fn panel_name(&self) -> Option<&String> { + self.panel_name.as_ref() + } + + pub fn reset_panel_name(&mut self) { + self.panel_name = None; + } + + pub fn set_panel_id(&mut self, panel_id: String) { + self.panel_id = Some(panel_id); + } + + pub fn with_panel_id(mut self, panel_id: String) -> Activity { + self.panel_id = Some(panel_id); + self + } + + pub fn panel_id(&self) -> Option<&String> { + self.panel_id.as_ref() + } + + pub fn reset_panel_id(&mut self) { + self.panel_id = None; + } + + pub fn set_panel_version(&mut self, panel_version: String) { + self.panel_version = Some(panel_version); + } + + pub fn with_panel_version(mut self, panel_version: String) -> Activity { + self.panel_version = Some(panel_version); + self + } + + pub fn panel_version(&self) -> Option<&String> { + self.panel_version.as_ref() + } + + pub fn reset_panel_version(&mut self) { + self.panel_version = None; + } + + pub fn set_user_name(&mut self, user_name: String) { + self.user_name = Some(user_name); + } + + pub fn with_user_name(mut self, user_name: String) -> Activity { + self.user_name = Some(user_name); + self + } + + pub fn user_name(&self) -> Option<&String> { + self.user_name.as_ref() + } + + pub fn reset_user_name(&mut self) { + self.user_name = None; + } + + pub fn set_item_type(&mut self, item_type: String) { + self.item_type = Some(item_type); + } + + pub fn with_item_type(mut self, item_type: String) -> Activity { + self.item_type = Some(item_type); + self + } + + pub fn item_type(&self) -> Option<&String> { + self.item_type.as_ref() + } + + pub fn reset_item_type(&mut self) { + self.item_type = None; + } + + pub fn set_text(&mut self, text: String) { + self.text = text; + } + + pub fn with_text(mut self, text: String) -> Activity { + self.text = text; + self + } + + pub fn text(&self) -> &String { + &self.text + } + + + pub fn set_entity_name(&mut self, entity_name: String) { + self.entity_name = Some(entity_name); + } + + pub fn with_entity_name(mut self, entity_name: String) -> Activity { + self.entity_name = Some(entity_name); + self + } + + pub fn entity_name(&self) -> Option<&String> { + self.entity_name.as_ref() + } + + pub fn reset_entity_name(&mut self) { + self.entity_name = None; + } + + pub fn set_entity_type(&mut self, entity_type: String) { + self.entity_type = Some(entity_type); + } + + pub fn with_entity_type(mut self, entity_type: String) -> Activity { + self.entity_type = Some(entity_type); + self + } + + pub fn entity_type(&self) -> Option<&String> { + self.entity_type.as_ref() + } + + pub fn reset_entity_type(&mut self) { + self.entity_type = None; + } + +} + + + diff --git a/src/genes/cli/data/panelapp/evaluation.rs b/src/genes/cli/data/panelapp/evaluation.rs new file mode 100644 index 00000000..6ad9a7a8 --- /dev/null +++ b/src/genes/cli/data/panelapp/evaluation.rs @@ -0,0 +1,189 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct Evaluation { + #[serde(rename = "created")] + created: Option, + #[serde(rename = "rating")] + rating: Option, + #[serde(rename = "mode_of_pathogenicity")] + mode_of_pathogenicity: Option, + #[serde(rename = "publications")] + publications: Option>, + #[serde(rename = "phenotypes")] + phenotypes: Option>, + #[serde(rename = "moi")] + moi: Option, + #[serde(rename = "current_diagnostic")] + current_diagnostic: Option, + /// Interruptions in the repeated sequence are reported as part of standard diagnostic practise + #[serde(rename = "clinically_relevant")] + clinically_relevant: Option +} + +impl Evaluation { + pub fn new() -> Evaluation { + Evaluation { + created: None, + rating: None, + mode_of_pathogenicity: None, + publications: None, + phenotypes: None, + moi: None, + current_diagnostic: None, + clinically_relevant: None + } + } + + pub fn set_created(&mut self, created: String) { + self.created = Some(created); + } + + pub fn with_created(mut self, created: String) -> Evaluation { + self.created = Some(created); + self + } + + pub fn created(&self) -> Option<&String> { + self.created.as_ref() + } + + pub fn reset_created(&mut self) { + self.created = None; + } + + pub fn set_rating(&mut self, rating: String) { + self.rating = Some(rating); + } + + pub fn with_rating(mut self, rating: String) -> Evaluation { + self.rating = Some(rating); + self + } + + pub fn rating(&self) -> Option<&String> { + self.rating.as_ref() + } + + pub fn reset_rating(&mut self) { + self.rating = None; + } + + pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + } + + pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Evaluation { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + self + } + + pub fn mode_of_pathogenicity(&self) -> Option<&String> { + self.mode_of_pathogenicity.as_ref() + } + + pub fn reset_mode_of_pathogenicity(&mut self) { + self.mode_of_pathogenicity = None; + } + + pub fn set_publications(&mut self, publications: Vec) { + self.publications = Some(publications); + } + + pub fn with_publications(mut self, publications: Vec) -> Evaluation { + self.publications = Some(publications); + self + } + + pub fn publications(&self) -> Option<&Vec> { + self.publications.as_ref() + } + + pub fn reset_publications(&mut self) { + self.publications = None; + } + + pub fn set_phenotypes(&mut self, phenotypes: Vec) { + self.phenotypes = Some(phenotypes); + } + + pub fn with_phenotypes(mut self, phenotypes: Vec) -> Evaluation { + self.phenotypes = Some(phenotypes); + self + } + + pub fn phenotypes(&self) -> Option<&Vec> { + self.phenotypes.as_ref() + } + + pub fn reset_phenotypes(&mut self) { + self.phenotypes = None; + } + + pub fn set_moi(&mut self, moi: String) { + self.moi = Some(moi); + } + + pub fn with_moi(mut self, moi: String) -> Evaluation { + self.moi = Some(moi); + self + } + + pub fn moi(&self) -> Option<&String> { + self.moi.as_ref() + } + + pub fn reset_moi(&mut self) { + self.moi = None; + } + + pub fn set_current_diagnostic(&mut self, current_diagnostic: bool) { + self.current_diagnostic = Some(current_diagnostic); + } + + pub fn with_current_diagnostic(mut self, current_diagnostic: bool) -> Evaluation { + self.current_diagnostic = Some(current_diagnostic); + self + } + + pub fn current_diagnostic(&self) -> Option<&bool> { + self.current_diagnostic.as_ref() + } + + pub fn reset_current_diagnostic(&mut self) { + self.current_diagnostic = None; + } + + pub fn set_clinically_relevant(&mut self, clinically_relevant: bool) { + self.clinically_relevant = Some(clinically_relevant); + } + + pub fn with_clinically_relevant(mut self, clinically_relevant: bool) -> Evaluation { + self.clinically_relevant = Some(clinically_relevant); + self + } + + pub fn clinically_relevant(&self) -> Option<&bool> { + self.clinically_relevant.as_ref() + } + + pub fn reset_clinically_relevant(&mut self) { + self.clinically_relevant = None; + } + +} + + + diff --git a/src/genes/cli/data/panelapp/gene.rs b/src/genes/cli/data/panelapp/gene.rs new file mode 100644 index 00000000..7f4b687e --- /dev/null +++ b/src/genes/cli/data/panelapp/gene.rs @@ -0,0 +1,264 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct Gene { + #[serde(rename = "gene_data")] + gene_data: Option, + #[serde(rename = "entity_type")] + entity_type: String, + #[serde(rename = "entity_name")] + entity_name: String, + #[serde(rename = "confidence_level")] + confidence_level: String, + #[serde(rename = "penetrance")] + penetrance: Option, + #[serde(rename = "mode_of_pathogenicity")] + mode_of_pathogenicity: Option, + #[serde(rename = "publications")] + publications: Vec, + #[serde(rename = "evidence")] + evidence: Vec, + #[serde(rename = "phenotypes")] + phenotypes: Vec, + #[serde(rename = "mode_of_inheritance")] + mode_of_inheritance: String, + #[serde(rename = "tags")] + tags: Option>, + #[serde(rename = "panel")] + panel: Option<::models::Panel>, + #[serde(rename = "transcript")] + transcript: Vec +} + +impl Gene { + pub fn new(entity_type: String, entity_name: String, confidence_level: String, publications: Vec, evidence: Vec, phenotypes: Vec, mode_of_inheritance: String, transcript: Vec) -> Gene { + Gene { + gene_data: None, + entity_type: entity_type, + entity_name: entity_name, + confidence_level: confidence_level, + penetrance: None, + mode_of_pathogenicity: None, + publications: publications, + evidence: evidence, + phenotypes: phenotypes, + mode_of_inheritance: mode_of_inheritance, + tags: None, + panel: None, + transcript: transcript + } + } + + pub fn set_gene_data(&mut self, gene_data: Value) { + self.gene_data = Some(gene_data); + } + + pub fn with_gene_data(mut self, gene_data: Value) -> Gene { + self.gene_data = Some(gene_data); + self + } + + pub fn gene_data(&self) -> Option<&Value> { + self.gene_data.as_ref() + } + + pub fn reset_gene_data(&mut self) { + self.gene_data = None; + } + + pub fn set_entity_type(&mut self, entity_type: String) { + self.entity_type = entity_type; + } + + pub fn with_entity_type(mut self, entity_type: String) -> Gene { + self.entity_type = entity_type; + self + } + + pub fn entity_type(&self) -> &String { + &self.entity_type + } + + + pub fn set_entity_name(&mut self, entity_name: String) { + self.entity_name = entity_name; + } + + pub fn with_entity_name(mut self, entity_name: String) -> Gene { + self.entity_name = entity_name; + self + } + + pub fn entity_name(&self) -> &String { + &self.entity_name + } + + + pub fn set_confidence_level(&mut self, confidence_level: String) { + self.confidence_level = confidence_level; + } + + pub fn with_confidence_level(mut self, confidence_level: String) -> Gene { + self.confidence_level = confidence_level; + self + } + + pub fn confidence_level(&self) -> &String { + &self.confidence_level + } + + + pub fn set_penetrance(&mut self, penetrance: String) { + self.penetrance = Some(penetrance); + } + + pub fn with_penetrance(mut self, penetrance: String) -> Gene { + self.penetrance = Some(penetrance); + self + } + + pub fn penetrance(&self) -> Option<&String> { + self.penetrance.as_ref() + } + + pub fn reset_penetrance(&mut self) { + self.penetrance = None; + } + + pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + } + + pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Gene { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + self + } + + pub fn mode_of_pathogenicity(&self) -> Option<&String> { + self.mode_of_pathogenicity.as_ref() + } + + pub fn reset_mode_of_pathogenicity(&mut self) { + self.mode_of_pathogenicity = None; + } + + pub fn set_publications(&mut self, publications: Vec) { + self.publications = publications; + } + + pub fn with_publications(mut self, publications: Vec) -> Gene { + self.publications = publications; + self + } + + pub fn publications(&self) -> &Vec { + &self.publications + } + + + pub fn set_evidence(&mut self, evidence: Vec) { + self.evidence = evidence; + } + + pub fn with_evidence(mut self, evidence: Vec) -> Gene { + self.evidence = evidence; + self + } + + pub fn evidence(&self) -> &Vec { + &self.evidence + } + + + pub fn set_phenotypes(&mut self, phenotypes: Vec) { + self.phenotypes = phenotypes; + } + + pub fn with_phenotypes(mut self, phenotypes: Vec) -> Gene { + self.phenotypes = phenotypes; + self + } + + pub fn phenotypes(&self) -> &Vec { + &self.phenotypes + } + + + pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { + self.mode_of_inheritance = mode_of_inheritance; + } + + pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Gene { + self.mode_of_inheritance = mode_of_inheritance; + self + } + + pub fn mode_of_inheritance(&self) -> &String { + &self.mode_of_inheritance + } + + + pub fn set_tags(&mut self, tags: Vec) { + self.tags = Some(tags); + } + + pub fn with_tags(mut self, tags: Vec) -> Gene { + self.tags = Some(tags); + self + } + + pub fn tags(&self) -> Option<&Vec> { + self.tags.as_ref() + } + + pub fn reset_tags(&mut self) { + self.tags = None; + } + + pub fn set_panel(&mut self, panel: ::models::Panel) { + self.panel = Some(panel); + } + + pub fn with_panel(mut self, panel: ::models::Panel) -> Gene { + self.panel = Some(panel); + self + } + + pub fn panel(&self) -> Option<&::models::Panel> { + self.panel.as_ref() + } + + pub fn reset_panel(&mut self) { + self.panel = None; + } + + pub fn set_transcript(&mut self, transcript: Vec) { + self.transcript = transcript; + } + + pub fn with_transcript(mut self, transcript: Vec) -> Gene { + self.transcript = transcript; + self + } + + pub fn transcript(&self) -> &Vec { + &self.transcript + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/historical_snapshot.rs b/src/genes/cli/data/panelapp/historical_snapshot.rs new file mode 100644 index 00000000..fd2d8a3a --- /dev/null +++ b/src/genes/cli/data/panelapp/historical_snapshot.rs @@ -0,0 +1,65 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct HistoricalSnapshot { + #[serde(rename = "data")] + data: Value, + #[serde(rename = "signed_off_date")] + signed_off_date: Option +} + +impl HistoricalSnapshot { + pub fn new(data: Value) -> HistoricalSnapshot { + HistoricalSnapshot { + data: data, + signed_off_date: None + } + } + + pub fn set_data(&mut self, data: Value) { + self.data = data; + } + + pub fn with_data(mut self, data: Value) -> HistoricalSnapshot { + self.data = data; + self + } + + pub fn data(&self) -> &Value { + &self.data + } + + + pub fn set_signed_off_date(&mut self, signed_off_date: String) { + self.signed_off_date = Some(signed_off_date); + } + + pub fn with_signed_off_date(mut self, signed_off_date: String) -> HistoricalSnapshot { + self.signed_off_date = Some(signed_off_date); + self + } + + pub fn signed_off_date(&self) -> Option<&String> { + self.signed_off_date.as_ref() + } + + pub fn reset_signed_off_date(&mut self) { + self.signed_off_date = None; + } + +} + + + diff --git a/src/genes/cli/data/panelapp/inline_response_200.rs b/src/genes/cli/data/panelapp/inline_response_200.rs new file mode 100644 index 00000000..f845038f --- /dev/null +++ b/src/genes/cli/data/panelapp/inline_response_200.rs @@ -0,0 +1,102 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct InlineResponse200 { + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec<::models::Activity> +} + +impl InlineResponse200 { + pub fn new(count: i32, results: Vec<::models::Activity>) -> InlineResponse200 { + InlineResponse200 { + count: count, + next: None, + previous: None, + results: results + } + } + + pub fn set_count(&mut self, count: i32) { + self.count = count; + } + + pub fn with_count(mut self, count: i32) -> InlineResponse200 { + self.count = count; + self + } + + pub fn count(&self) -> &i32 { + &self.count + } + + + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } + + pub fn with_next(mut self, next: String) -> InlineResponse200 { + self.next = Some(next); + self + } + + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } + + pub fn reset_next(&mut self) { + self.next = None; + } + + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } + + pub fn with_previous(mut self, previous: String) -> InlineResponse200 { + self.previous = Some(previous); + self + } + + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } + + pub fn reset_previous(&mut self) { + self.previous = None; + } + + pub fn set_results(&mut self, results: Vec<::models::Activity>) { + self.results = results; + } + + pub fn with_results(mut self, results: Vec<::models::Activity>) -> InlineResponse200 { + self.results = results; + self + } + + pub fn results(&self) -> &Vec<::models::Activity> { + &self.results + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/inline_response_200_1.rs b/src/genes/cli/data/panelapp/inline_response_200_1.rs new file mode 100644 index 00000000..a242e9e6 --- /dev/null +++ b/src/genes/cli/data/panelapp/inline_response_200_1.rs @@ -0,0 +1,102 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct InlineResponse2001 { + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec +} + +impl InlineResponse2001 { + pub fn new(count: i32, results: Vec) -> InlineResponse2001 { + InlineResponse2001 { + count: count, + next: None, + previous: None, + results: results + } + } + + pub fn set_count(&mut self, count: i32) { + self.count = count; + } + + pub fn with_count(mut self, count: i32) -> InlineResponse2001 { + self.count = count; + self + } + + pub fn count(&self) -> &i32 { + &self.count + } + + + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } + + pub fn with_next(mut self, next: String) -> InlineResponse2001 { + self.next = Some(next); + self + } + + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } + + pub fn reset_next(&mut self) { + self.next = None; + } + + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } + + pub fn with_previous(mut self, previous: String) -> InlineResponse2001 { + self.previous = Some(previous); + self + } + + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } + + pub fn reset_previous(&mut self) { + self.previous = None; + } + + pub fn set_results(&mut self, results: Vec) { + self.results = results; + } + + pub fn with_results(mut self, results: Vec) -> InlineResponse2001 { + self.results = results; + self + } + + pub fn results(&self) -> &Vec { + &self.results + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/inline_response_200_2.rs b/src/genes/cli/data/panelapp/inline_response_200_2.rs new file mode 100644 index 00000000..251cceb7 --- /dev/null +++ b/src/genes/cli/data/panelapp/inline_response_200_2.rs @@ -0,0 +1,102 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct InlineResponse2002 { + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec<::models::Gene> +} + +impl InlineResponse2002 { + pub fn new(count: i32, results: Vec<::models::Gene>) -> InlineResponse2002 { + InlineResponse2002 { + count: count, + next: None, + previous: None, + results: results + } + } + + pub fn set_count(&mut self, count: i32) { + self.count = count; + } + + pub fn with_count(mut self, count: i32) -> InlineResponse2002 { + self.count = count; + self + } + + pub fn count(&self) -> &i32 { + &self.count + } + + + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } + + pub fn with_next(mut self, next: String) -> InlineResponse2002 { + self.next = Some(next); + self + } + + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } + + pub fn reset_next(&mut self) { + self.next = None; + } + + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } + + pub fn with_previous(mut self, previous: String) -> InlineResponse2002 { + self.previous = Some(previous); + self + } + + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } + + pub fn reset_previous(&mut self) { + self.previous = None; + } + + pub fn set_results(&mut self, results: Vec<::models::Gene>) { + self.results = results; + } + + pub fn with_results(mut self, results: Vec<::models::Gene>) -> InlineResponse2002 { + self.results = results; + self + } + + pub fn results(&self) -> &Vec<::models::Gene> { + &self.results + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/inline_response_200_3.rs b/src/genes/cli/data/panelapp/inline_response_200_3.rs new file mode 100644 index 00000000..42bafd18 --- /dev/null +++ b/src/genes/cli/data/panelapp/inline_response_200_3.rs @@ -0,0 +1,102 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct InlineResponse2003 { + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec<::models::Panel> +} + +impl InlineResponse2003 { + pub fn new(count: i32, results: Vec<::models::Panel>) -> InlineResponse2003 { + InlineResponse2003 { + count: count, + next: None, + previous: None, + results: results + } + } + + pub fn set_count(&mut self, count: i32) { + self.count = count; + } + + pub fn with_count(mut self, count: i32) -> InlineResponse2003 { + self.count = count; + self + } + + pub fn count(&self) -> &i32 { + &self.count + } + + + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } + + pub fn with_next(mut self, next: String) -> InlineResponse2003 { + self.next = Some(next); + self + } + + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } + + pub fn reset_next(&mut self) { + self.next = None; + } + + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } + + pub fn with_previous(mut self, previous: String) -> InlineResponse2003 { + self.previous = Some(previous); + self + } + + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } + + pub fn reset_previous(&mut self) { + self.previous = None; + } + + pub fn set_results(&mut self, results: Vec<::models::Panel>) { + self.results = results; + } + + pub fn with_results(mut self, results: Vec<::models::Panel>) -> InlineResponse2003 { + self.results = results; + self + } + + pub fn results(&self) -> &Vec<::models::Panel> { + &self.results + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/inline_response_200_4.rs b/src/genes/cli/data/panelapp/inline_response_200_4.rs new file mode 100644 index 00000000..6d2fee3d --- /dev/null +++ b/src/genes/cli/data/panelapp/inline_response_200_4.rs @@ -0,0 +1,102 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct InlineResponse2004 { + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec<::models::HistoricalSnapshot> +} + +impl InlineResponse2004 { + pub fn new(count: i32, results: Vec<::models::HistoricalSnapshot>) -> InlineResponse2004 { + InlineResponse2004 { + count: count, + next: None, + previous: None, + results: results + } + } + + pub fn set_count(&mut self, count: i32) { + self.count = count; + } + + pub fn with_count(mut self, count: i32) -> InlineResponse2004 { + self.count = count; + self + } + + pub fn count(&self) -> &i32 { + &self.count + } + + + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } + + pub fn with_next(mut self, next: String) -> InlineResponse2004 { + self.next = Some(next); + self + } + + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } + + pub fn reset_next(&mut self) { + self.next = None; + } + + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } + + pub fn with_previous(mut self, previous: String) -> InlineResponse2004 { + self.previous = Some(previous); + self + } + + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } + + pub fn reset_previous(&mut self) { + self.previous = None; + } + + pub fn set_results(&mut self, results: Vec<::models::HistoricalSnapshot>) { + self.results = results; + } + + pub fn with_results(mut self, results: Vec<::models::HistoricalSnapshot>) -> InlineResponse2004 { + self.results = results; + self + } + + pub fn results(&self) -> &Vec<::models::HistoricalSnapshot> { + &self.results + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/inline_response_200_5.rs b/src/genes/cli/data/panelapp/inline_response_200_5.rs new file mode 100644 index 00000000..06bd8794 --- /dev/null +++ b/src/genes/cli/data/panelapp/inline_response_200_5.rs @@ -0,0 +1,102 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct InlineResponse2005 { + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec<::models::Evaluation> +} + +impl InlineResponse2005 { + pub fn new(count: i32, results: Vec<::models::Evaluation>) -> InlineResponse2005 { + InlineResponse2005 { + count: count, + next: None, + previous: None, + results: results + } + } + + pub fn set_count(&mut self, count: i32) { + self.count = count; + } + + pub fn with_count(mut self, count: i32) -> InlineResponse2005 { + self.count = count; + self + } + + pub fn count(&self) -> &i32 { + &self.count + } + + + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } + + pub fn with_next(mut self, next: String) -> InlineResponse2005 { + self.next = Some(next); + self + } + + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } + + pub fn reset_next(&mut self) { + self.next = None; + } + + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } + + pub fn with_previous(mut self, previous: String) -> InlineResponse2005 { + self.previous = Some(previous); + self + } + + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } + + pub fn reset_previous(&mut self) { + self.previous = None; + } + + pub fn set_results(&mut self, results: Vec<::models::Evaluation>) { + self.results = results; + } + + pub fn with_results(mut self, results: Vec<::models::Evaluation>) -> InlineResponse2005 { + self.results = results; + self + } + + pub fn results(&self) -> &Vec<::models::Evaluation> { + &self.results + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/inline_response_200_6.rs b/src/genes/cli/data/panelapp/inline_response_200_6.rs new file mode 100644 index 00000000..120a2334 --- /dev/null +++ b/src/genes/cli/data/panelapp/inline_response_200_6.rs @@ -0,0 +1,102 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct InlineResponse2006 { + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec<::models::Region> +} + +impl InlineResponse2006 { + pub fn new(count: i32, results: Vec<::models::Region>) -> InlineResponse2006 { + InlineResponse2006 { + count: count, + next: None, + previous: None, + results: results + } + } + + pub fn set_count(&mut self, count: i32) { + self.count = count; + } + + pub fn with_count(mut self, count: i32) -> InlineResponse2006 { + self.count = count; + self + } + + pub fn count(&self) -> &i32 { + &self.count + } + + + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } + + pub fn with_next(mut self, next: String) -> InlineResponse2006 { + self.next = Some(next); + self + } + + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } + + pub fn reset_next(&mut self) { + self.next = None; + } + + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } + + pub fn with_previous(mut self, previous: String) -> InlineResponse2006 { + self.previous = Some(previous); + self + } + + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } + + pub fn reset_previous(&mut self) { + self.previous = None; + } + + pub fn set_results(&mut self, results: Vec<::models::Region>) { + self.results = results; + } + + pub fn with_results(mut self, results: Vec<::models::Region>) -> InlineResponse2006 { + self.results = results; + self + } + + pub fn results(&self) -> &Vec<::models::Region> { + &self.results + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/inline_response_200_7.rs b/src/genes/cli/data/panelapp/inline_response_200_7.rs new file mode 100644 index 00000000..a13cb216 --- /dev/null +++ b/src/genes/cli/data/panelapp/inline_response_200_7.rs @@ -0,0 +1,102 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct InlineResponse2007 { + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec<::models::Str> +} + +impl InlineResponse2007 { + pub fn new(count: i32, results: Vec<::models::Str>) -> InlineResponse2007 { + InlineResponse2007 { + count: count, + next: None, + previous: None, + results: results + } + } + + pub fn set_count(&mut self, count: i32) { + self.count = count; + } + + pub fn with_count(mut self, count: i32) -> InlineResponse2007 { + self.count = count; + self + } + + pub fn count(&self) -> &i32 { + &self.count + } + + + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } + + pub fn with_next(mut self, next: String) -> InlineResponse2007 { + self.next = Some(next); + self + } + + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } + + pub fn reset_next(&mut self) { + self.next = None; + } + + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } + + pub fn with_previous(mut self, previous: String) -> InlineResponse2007 { + self.previous = Some(previous); + self + } + + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } + + pub fn reset_previous(&mut self) { + self.previous = None; + } + + pub fn set_results(&mut self, results: Vec<::models::Str>) { + self.results = results; + } + + pub fn with_results(mut self, results: Vec<::models::Str>) -> InlineResponse2007 { + self.results = results; + self + } + + pub fn results(&self) -> &Vec<::models::Str> { + &self.results + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/mod.rs b/src/genes/cli/data/panelapp/mod.rs new file mode 100644 index 00000000..92acb74e --- /dev/null +++ b/src/genes/cli/data/panelapp/mod.rs @@ -0,0 +1,39 @@ +//! Code generated with `swagger-codegen` from: +//! +//! - https://panelapp.genomicsengland.co.uk/api/docs/?format=openapi + +mod activity; +pub use self::activity::Activity; +mod evaluation; +pub use self::evaluation::Evaluation; +mod gene; +pub use self::gene::Gene; +mod historical_snapshot; +pub use self::historical_snapshot::HistoricalSnapshot; +mod inline_response_200; +pub use self::inline_response_200::InlineResponse200; +mod inline_response_200_1; +pub use self::inline_response_200_1::InlineResponse2001; +mod inline_response_200_2; +pub use self::inline_response_200_2::InlineResponse2002; +mod inline_response_200_3; +pub use self::inline_response_200_3::InlineResponse2003; +mod inline_response_200_4; +pub use self::inline_response_200_4::InlineResponse2004; +mod inline_response_200_5; +pub use self::inline_response_200_5::InlineResponse2005; +mod inline_response_200_6; +pub use self::inline_response_200_6::InlineResponse2006; +mod inline_response_200_7; +pub use self::inline_response_200_7::InlineResponse2007; +mod panel; +pub use self::panel::Panel; +mod panel_type; +pub use self::panel_type::PanelType; +mod region; +pub use self::region::Region; +mod str; +pub use self::str::Str; + +// TODO(farcaller): sort out files +pub struct File; diff --git a/src/genes/cli/data/panelapp/panel.rs b/src/genes/cli/data/panelapp/panel.rs new file mode 100644 index 00000000..3878ac2f --- /dev/null +++ b/src/genes/cli/data/panelapp/panel.rs @@ -0,0 +1,243 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct Panel { + #[serde(rename = "id")] + id: i32, + #[serde(rename = "hash_id")] + hash_id: Option, + #[serde(rename = "name")] + name: Option, + #[serde(rename = "disease_group")] + disease_group: Option, + #[serde(rename = "disease_sub_group")] + disease_sub_group: Option, + #[serde(rename = "status")] + status: Option, + #[serde(rename = "version")] + version: Option, + #[serde(rename = "version_created")] + version_created: Option, + #[serde(rename = "relevant_disorders")] + relevant_disorders: Vec, + /// Object with panel statistics (number of genes or STRs) + #[serde(rename = "stats")] + stats: Option, + #[serde(rename = "types")] + types: Option> +} + +impl Panel { + pub fn new(id: i32, relevant_disorders: Vec) -> Panel { + Panel { + id: id, + hash_id: None, + name: None, + disease_group: None, + disease_sub_group: None, + status: None, + version: None, + version_created: None, + relevant_disorders: relevant_disorders, + stats: None, + types: None + } + } + + pub fn set_id(&mut self, id: i32) { + self.id = id; + } + + pub fn with_id(mut self, id: i32) -> Panel { + self.id = id; + self + } + + pub fn id(&self) -> &i32 { + &self.id + } + + + pub fn set_hash_id(&mut self, hash_id: String) { + self.hash_id = Some(hash_id); + } + + pub fn with_hash_id(mut self, hash_id: String) -> Panel { + self.hash_id = Some(hash_id); + self + } + + pub fn hash_id(&self) -> Option<&String> { + self.hash_id.as_ref() + } + + pub fn reset_hash_id(&mut self) { + self.hash_id = None; + } + + pub fn set_name(&mut self, name: String) { + self.name = Some(name); + } + + pub fn with_name(mut self, name: String) -> Panel { + self.name = Some(name); + self + } + + pub fn name(&self) -> Option<&String> { + self.name.as_ref() + } + + pub fn reset_name(&mut self) { + self.name = None; + } + + pub fn set_disease_group(&mut self, disease_group: String) { + self.disease_group = Some(disease_group); + } + + pub fn with_disease_group(mut self, disease_group: String) -> Panel { + self.disease_group = Some(disease_group); + self + } + + pub fn disease_group(&self) -> Option<&String> { + self.disease_group.as_ref() + } + + pub fn reset_disease_group(&mut self) { + self.disease_group = None; + } + + pub fn set_disease_sub_group(&mut self, disease_sub_group: String) { + self.disease_sub_group = Some(disease_sub_group); + } + + pub fn with_disease_sub_group(mut self, disease_sub_group: String) -> Panel { + self.disease_sub_group = Some(disease_sub_group); + self + } + + pub fn disease_sub_group(&self) -> Option<&String> { + self.disease_sub_group.as_ref() + } + + pub fn reset_disease_sub_group(&mut self) { + self.disease_sub_group = None; + } + + pub fn set_status(&mut self, status: String) { + self.status = Some(status); + } + + pub fn with_status(mut self, status: String) -> Panel { + self.status = Some(status); + self + } + + pub fn status(&self) -> Option<&String> { + self.status.as_ref() + } + + pub fn reset_status(&mut self) { + self.status = None; + } + + pub fn set_version(&mut self, version: String) { + self.version = Some(version); + } + + pub fn with_version(mut self, version: String) -> Panel { + self.version = Some(version); + self + } + + pub fn version(&self) -> Option<&String> { + self.version.as_ref() + } + + pub fn reset_version(&mut self) { + self.version = None; + } + + pub fn set_version_created(&mut self, version_created: String) { + self.version_created = Some(version_created); + } + + pub fn with_version_created(mut self, version_created: String) -> Panel { + self.version_created = Some(version_created); + self + } + + pub fn version_created(&self) -> Option<&String> { + self.version_created.as_ref() + } + + pub fn reset_version_created(&mut self) { + self.version_created = None; + } + + pub fn set_relevant_disorders(&mut self, relevant_disorders: Vec) { + self.relevant_disorders = relevant_disorders; + } + + pub fn with_relevant_disorders(mut self, relevant_disorders: Vec) -> Panel { + self.relevant_disorders = relevant_disorders; + self + } + + pub fn relevant_disorders(&self) -> &Vec { + &self.relevant_disorders + } + + + pub fn set_stats(&mut self, stats: Value) { + self.stats = Some(stats); + } + + pub fn with_stats(mut self, stats: Value) -> Panel { + self.stats = Some(stats); + self + } + + pub fn stats(&self) -> Option<&Value> { + self.stats.as_ref() + } + + pub fn reset_stats(&mut self) { + self.stats = None; + } + + pub fn set_types(&mut self, types: Vec<::models::PanelType>) { + self.types = Some(types); + } + + pub fn with_types(mut self, types: Vec<::models::PanelType>) -> Panel { + self.types = Some(types); + self + } + + pub fn types(&self) -> Option<&Vec<::models::PanelType>> { + self.types.as_ref() + } + + pub fn reset_types(&mut self) { + self.types = None; + } + +} + + + diff --git a/src/genes/cli/data/panelapp/panel_type.rs b/src/genes/cli/data/panelapp/panel_type.rs new file mode 100644 index 00000000..1279e15d --- /dev/null +++ b/src/genes/cli/data/panelapp/panel_type.rs @@ -0,0 +1,82 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct PanelType { + #[serde(rename = "name")] + name: String, + #[serde(rename = "slug")] + slug: Option, + #[serde(rename = "description")] + description: String +} + +impl PanelType { + pub fn new(name: String, description: String) -> PanelType { + PanelType { + name: name, + slug: None, + description: description + } + } + + pub fn set_name(&mut self, name: String) { + self.name = name; + } + + pub fn with_name(mut self, name: String) -> PanelType { + self.name = name; + self + } + + pub fn name(&self) -> &String { + &self.name + } + + + pub fn set_slug(&mut self, slug: String) { + self.slug = Some(slug); + } + + pub fn with_slug(mut self, slug: String) -> PanelType { + self.slug = Some(slug); + self + } + + pub fn slug(&self) -> Option<&String> { + self.slug.as_ref() + } + + pub fn reset_slug(&mut self) { + self.slug = None; + } + + pub fn set_description(&mut self, description: String) { + self.description = description; + } + + pub fn with_description(mut self, description: String) -> PanelType { + self.description = description; + self + } + + pub fn description(&self) -> &String { + &self.description + } + + +} + + + diff --git a/src/genes/cli/data/panelapp/region.rs b/src/genes/cli/data/panelapp/region.rs new file mode 100644 index 00000000..c5838b12 --- /dev/null +++ b/src/genes/cli/data/panelapp/region.rs @@ -0,0 +1,397 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct Region { + #[serde(rename = "gene_data")] + gene_data: Option, + #[serde(rename = "entity_type")] + entity_type: String, + #[serde(rename = "entity_name")] + entity_name: String, + /// Region Name + #[serde(rename = "verbose_name")] + verbose_name: Option, + #[serde(rename = "confidence_level")] + confidence_level: String, + #[serde(rename = "penetrance")] + penetrance: Option, + #[serde(rename = "mode_of_pathogenicity")] + mode_of_pathogenicity: Option, + #[serde(rename = "haploinsufficiency_score")] + haploinsufficiency_score: Option, + #[serde(rename = "triplosensitivity_score")] + triplosensitivity_score: Option, + /// Required percent of overlap + #[serde(rename = "required_overlap_percentage")] + required_overlap_percentage: i32, + #[serde(rename = "type_of_variants")] + type_of_variants: Option, + #[serde(rename = "publications")] + publications: Vec, + #[serde(rename = "evidence")] + evidence: Vec, + #[serde(rename = "phenotypes")] + phenotypes: Vec, + #[serde(rename = "mode_of_inheritance")] + mode_of_inheritance: String, + #[serde(rename = "chromosome")] + chromosome: String, + #[serde(rename = "grch37_coordinates")] + grch37_coordinates: Vec, + #[serde(rename = "grch38_coordinates")] + grch38_coordinates: Vec, + #[serde(rename = "tags")] + tags: Option>, + #[serde(rename = "panel")] + panel: Option<::models::Panel> +} + +impl Region { + pub fn new(entity_type: String, entity_name: String, confidence_level: String, required_overlap_percentage: i32, publications: Vec, evidence: Vec, phenotypes: Vec, mode_of_inheritance: String, chromosome: String, grch37_coordinates: Vec, grch38_coordinates: Vec) -> Region { + Region { + gene_data: None, + entity_type: entity_type, + entity_name: entity_name, + verbose_name: None, + confidence_level: confidence_level, + penetrance: None, + mode_of_pathogenicity: None, + haploinsufficiency_score: None, + triplosensitivity_score: None, + required_overlap_percentage: required_overlap_percentage, + type_of_variants: None, + publications: publications, + evidence: evidence, + phenotypes: phenotypes, + mode_of_inheritance: mode_of_inheritance, + chromosome: chromosome, + grch37_coordinates: grch37_coordinates, + grch38_coordinates: grch38_coordinates, + tags: None, + panel: None + } + } + + pub fn set_gene_data(&mut self, gene_data: Value) { + self.gene_data = Some(gene_data); + } + + pub fn with_gene_data(mut self, gene_data: Value) -> Region { + self.gene_data = Some(gene_data); + self + } + + pub fn gene_data(&self) -> Option<&Value> { + self.gene_data.as_ref() + } + + pub fn reset_gene_data(&mut self) { + self.gene_data = None; + } + + pub fn set_entity_type(&mut self, entity_type: String) { + self.entity_type = entity_type; + } + + pub fn with_entity_type(mut self, entity_type: String) -> Region { + self.entity_type = entity_type; + self + } + + pub fn entity_type(&self) -> &String { + &self.entity_type + } + + + pub fn set_entity_name(&mut self, entity_name: String) { + self.entity_name = entity_name; + } + + pub fn with_entity_name(mut self, entity_name: String) -> Region { + self.entity_name = entity_name; + self + } + + pub fn entity_name(&self) -> &String { + &self.entity_name + } + + + pub fn set_verbose_name(&mut self, verbose_name: String) { + self.verbose_name = Some(verbose_name); + } + + pub fn with_verbose_name(mut self, verbose_name: String) -> Region { + self.verbose_name = Some(verbose_name); + self + } + + pub fn verbose_name(&self) -> Option<&String> { + self.verbose_name.as_ref() + } + + pub fn reset_verbose_name(&mut self) { + self.verbose_name = None; + } + + pub fn set_confidence_level(&mut self, confidence_level: String) { + self.confidence_level = confidence_level; + } + + pub fn with_confidence_level(mut self, confidence_level: String) -> Region { + self.confidence_level = confidence_level; + self + } + + pub fn confidence_level(&self) -> &String { + &self.confidence_level + } + + + pub fn set_penetrance(&mut self, penetrance: String) { + self.penetrance = Some(penetrance); + } + + pub fn with_penetrance(mut self, penetrance: String) -> Region { + self.penetrance = Some(penetrance); + self + } + + pub fn penetrance(&self) -> Option<&String> { + self.penetrance.as_ref() + } + + pub fn reset_penetrance(&mut self) { + self.penetrance = None; + } + + pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + } + + pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Region { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + self + } + + pub fn mode_of_pathogenicity(&self) -> Option<&String> { + self.mode_of_pathogenicity.as_ref() + } + + pub fn reset_mode_of_pathogenicity(&mut self) { + self.mode_of_pathogenicity = None; + } + + pub fn set_haploinsufficiency_score(&mut self, haploinsufficiency_score: String) { + self.haploinsufficiency_score = Some(haploinsufficiency_score); + } + + pub fn with_haploinsufficiency_score(mut self, haploinsufficiency_score: String) -> Region { + self.haploinsufficiency_score = Some(haploinsufficiency_score); + self + } + + pub fn haploinsufficiency_score(&self) -> Option<&String> { + self.haploinsufficiency_score.as_ref() + } + + pub fn reset_haploinsufficiency_score(&mut self) { + self.haploinsufficiency_score = None; + } + + pub fn set_triplosensitivity_score(&mut self, triplosensitivity_score: String) { + self.triplosensitivity_score = Some(triplosensitivity_score); + } + + pub fn with_triplosensitivity_score(mut self, triplosensitivity_score: String) -> Region { + self.triplosensitivity_score = Some(triplosensitivity_score); + self + } + + pub fn triplosensitivity_score(&self) -> Option<&String> { + self.triplosensitivity_score.as_ref() + } + + pub fn reset_triplosensitivity_score(&mut self) { + self.triplosensitivity_score = None; + } + + pub fn set_required_overlap_percentage(&mut self, required_overlap_percentage: i32) { + self.required_overlap_percentage = required_overlap_percentage; + } + + pub fn with_required_overlap_percentage(mut self, required_overlap_percentage: i32) -> Region { + self.required_overlap_percentage = required_overlap_percentage; + self + } + + pub fn required_overlap_percentage(&self) -> &i32 { + &self.required_overlap_percentage + } + + + pub fn set_type_of_variants(&mut self, type_of_variants: String) { + self.type_of_variants = Some(type_of_variants); + } + + pub fn with_type_of_variants(mut self, type_of_variants: String) -> Region { + self.type_of_variants = Some(type_of_variants); + self + } + + pub fn type_of_variants(&self) -> Option<&String> { + self.type_of_variants.as_ref() + } + + pub fn reset_type_of_variants(&mut self) { + self.type_of_variants = None; + } + + pub fn set_publications(&mut self, publications: Vec) { + self.publications = publications; + } + + pub fn with_publications(mut self, publications: Vec) -> Region { + self.publications = publications; + self + } + + pub fn publications(&self) -> &Vec { + &self.publications + } + + + pub fn set_evidence(&mut self, evidence: Vec) { + self.evidence = evidence; + } + + pub fn with_evidence(mut self, evidence: Vec) -> Region { + self.evidence = evidence; + self + } + + pub fn evidence(&self) -> &Vec { + &self.evidence + } + + + pub fn set_phenotypes(&mut self, phenotypes: Vec) { + self.phenotypes = phenotypes; + } + + pub fn with_phenotypes(mut self, phenotypes: Vec) -> Region { + self.phenotypes = phenotypes; + self + } + + pub fn phenotypes(&self) -> &Vec { + &self.phenotypes + } + + + pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { + self.mode_of_inheritance = mode_of_inheritance; + } + + pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Region { + self.mode_of_inheritance = mode_of_inheritance; + self + } + + pub fn mode_of_inheritance(&self) -> &String { + &self.mode_of_inheritance + } + + + pub fn set_chromosome(&mut self, chromosome: String) { + self.chromosome = chromosome; + } + + pub fn with_chromosome(mut self, chromosome: String) -> Region { + self.chromosome = chromosome; + self + } + + pub fn chromosome(&self) -> &String { + &self.chromosome + } + + + pub fn set_grch37_coordinates(&mut self, grch37_coordinates: Vec) { + self.grch37_coordinates = grch37_coordinates; + } + + pub fn with_grch37_coordinates(mut self, grch37_coordinates: Vec) -> Region { + self.grch37_coordinates = grch37_coordinates; + self + } + + pub fn grch37_coordinates(&self) -> &Vec { + &self.grch37_coordinates + } + + + pub fn set_grch38_coordinates(&mut self, grch38_coordinates: Vec) { + self.grch38_coordinates = grch38_coordinates; + } + + pub fn with_grch38_coordinates(mut self, grch38_coordinates: Vec) -> Region { + self.grch38_coordinates = grch38_coordinates; + self + } + + pub fn grch38_coordinates(&self) -> &Vec { + &self.grch38_coordinates + } + + + pub fn set_tags(&mut self, tags: Vec) { + self.tags = Some(tags); + } + + pub fn with_tags(mut self, tags: Vec) -> Region { + self.tags = Some(tags); + self + } + + pub fn tags(&self) -> Option<&Vec> { + self.tags.as_ref() + } + + pub fn reset_tags(&mut self) { + self.tags = None; + } + + pub fn set_panel(&mut self, panel: ::models::Panel) { + self.panel = Some(panel); + } + + pub fn with_panel(mut self, panel: ::models::Panel) -> Region { + self.panel = Some(panel); + self + } + + pub fn panel(&self) -> Option<&::models::Panel> { + self.panel.as_ref() + } + + pub fn reset_panel(&mut self) { + self.panel = None; + } + +} + + + diff --git a/src/genes/cli/data/panelapp/str.rs b/src/genes/cli/data/panelapp/str.rs new file mode 100644 index 00000000..4a346bef --- /dev/null +++ b/src/genes/cli/data/panelapp/str.rs @@ -0,0 +1,331 @@ +/* + * PanelApp API + * + * PanelApp API + * + * OpenAPI spec version: v1 + * Contact: panelapp@genomicsengland.co.uk + * Generated by: https://github.com/swagger-api/swagger-codegen.git + */ + + +#[allow(unused_imports)] +use serde_json::Value; + +#[derive(Debug, Serialize, Deserialize)] +pub struct Str { + #[serde(rename = "gene_data")] + gene_data: Option, + #[serde(rename = "entity_type")] + entity_type: String, + #[serde(rename = "entity_name")] + entity_name: String, + #[serde(rename = "confidence_level")] + confidence_level: String, + #[serde(rename = "penetrance")] + penetrance: Option, + #[serde(rename = "publications")] + publications: Vec, + #[serde(rename = "evidence")] + evidence: Vec, + #[serde(rename = "phenotypes")] + phenotypes: Vec, + #[serde(rename = "mode_of_inheritance")] + mode_of_inheritance: String, + #[serde(rename = "repeated_sequence")] + repeated_sequence: String, + #[serde(rename = "chromosome")] + chromosome: String, + #[serde(rename = "grch37_coordinates")] + grch37_coordinates: Vec, + #[serde(rename = "grch38_coordinates")] + grch38_coordinates: Vec, + /// =< Maximum normal number of repeats + #[serde(rename = "normal_repeats")] + normal_repeats: i32, + /// >= Minimum fully penetrant pathogenic number of repeats + #[serde(rename = "pathogenic_repeats")] + pathogenic_repeats: i32, + #[serde(rename = "tags")] + tags: Option>, + #[serde(rename = "panel")] + panel: Option<::models::Panel> +} + +impl Str { + pub fn new(entity_type: String, entity_name: String, confidence_level: String, publications: Vec, evidence: Vec, phenotypes: Vec, mode_of_inheritance: String, repeated_sequence: String, chromosome: String, grch37_coordinates: Vec, grch38_coordinates: Vec, normal_repeats: i32, pathogenic_repeats: i32) -> Str { + Str { + gene_data: None, + entity_type: entity_type, + entity_name: entity_name, + confidence_level: confidence_level, + penetrance: None, + publications: publications, + evidence: evidence, + phenotypes: phenotypes, + mode_of_inheritance: mode_of_inheritance, + repeated_sequence: repeated_sequence, + chromosome: chromosome, + grch37_coordinates: grch37_coordinates, + grch38_coordinates: grch38_coordinates, + normal_repeats: normal_repeats, + pathogenic_repeats: pathogenic_repeats, + tags: None, + panel: None + } + } + + pub fn set_gene_data(&mut self, gene_data: Value) { + self.gene_data = Some(gene_data); + } + + pub fn with_gene_data(mut self, gene_data: Value) -> Str { + self.gene_data = Some(gene_data); + self + } + + pub fn gene_data(&self) -> Option<&Value> { + self.gene_data.as_ref() + } + + pub fn reset_gene_data(&mut self) { + self.gene_data = None; + } + + pub fn set_entity_type(&mut self, entity_type: String) { + self.entity_type = entity_type; + } + + pub fn with_entity_type(mut self, entity_type: String) -> Str { + self.entity_type = entity_type; + self + } + + pub fn entity_type(&self) -> &String { + &self.entity_type + } + + + pub fn set_entity_name(&mut self, entity_name: String) { + self.entity_name = entity_name; + } + + pub fn with_entity_name(mut self, entity_name: String) -> Str { + self.entity_name = entity_name; + self + } + + pub fn entity_name(&self) -> &String { + &self.entity_name + } + + + pub fn set_confidence_level(&mut self, confidence_level: String) { + self.confidence_level = confidence_level; + } + + pub fn with_confidence_level(mut self, confidence_level: String) -> Str { + self.confidence_level = confidence_level; + self + } + + pub fn confidence_level(&self) -> &String { + &self.confidence_level + } + + + pub fn set_penetrance(&mut self, penetrance: String) { + self.penetrance = Some(penetrance); + } + + pub fn with_penetrance(mut self, penetrance: String) -> Str { + self.penetrance = Some(penetrance); + self + } + + pub fn penetrance(&self) -> Option<&String> { + self.penetrance.as_ref() + } + + pub fn reset_penetrance(&mut self) { + self.penetrance = None; + } + + pub fn set_publications(&mut self, publications: Vec) { + self.publications = publications; + } + + pub fn with_publications(mut self, publications: Vec) -> Str { + self.publications = publications; + self + } + + pub fn publications(&self) -> &Vec { + &self.publications + } + + + pub fn set_evidence(&mut self, evidence: Vec) { + self.evidence = evidence; + } + + pub fn with_evidence(mut self, evidence: Vec) -> Str { + self.evidence = evidence; + self + } + + pub fn evidence(&self) -> &Vec { + &self.evidence + } + + + pub fn set_phenotypes(&mut self, phenotypes: Vec) { + self.phenotypes = phenotypes; + } + + pub fn with_phenotypes(mut self, phenotypes: Vec) -> Str { + self.phenotypes = phenotypes; + self + } + + pub fn phenotypes(&self) -> &Vec { + &self.phenotypes + } + + + pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { + self.mode_of_inheritance = mode_of_inheritance; + } + + pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Str { + self.mode_of_inheritance = mode_of_inheritance; + self + } + + pub fn mode_of_inheritance(&self) -> &String { + &self.mode_of_inheritance + } + + + pub fn set_repeated_sequence(&mut self, repeated_sequence: String) { + self.repeated_sequence = repeated_sequence; + } + + pub fn with_repeated_sequence(mut self, repeated_sequence: String) -> Str { + self.repeated_sequence = repeated_sequence; + self + } + + pub fn repeated_sequence(&self) -> &String { + &self.repeated_sequence + } + + + pub fn set_chromosome(&mut self, chromosome: String) { + self.chromosome = chromosome; + } + + pub fn with_chromosome(mut self, chromosome: String) -> Str { + self.chromosome = chromosome; + self + } + + pub fn chromosome(&self) -> &String { + &self.chromosome + } + + + pub fn set_grch37_coordinates(&mut self, grch37_coordinates: Vec) { + self.grch37_coordinates = grch37_coordinates; + } + + pub fn with_grch37_coordinates(mut self, grch37_coordinates: Vec) -> Str { + self.grch37_coordinates = grch37_coordinates; + self + } + + pub fn grch37_coordinates(&self) -> &Vec { + &self.grch37_coordinates + } + + + pub fn set_grch38_coordinates(&mut self, grch38_coordinates: Vec) { + self.grch38_coordinates = grch38_coordinates; + } + + pub fn with_grch38_coordinates(mut self, grch38_coordinates: Vec) -> Str { + self.grch38_coordinates = grch38_coordinates; + self + } + + pub fn grch38_coordinates(&self) -> &Vec { + &self.grch38_coordinates + } + + + pub fn set_normal_repeats(&mut self, normal_repeats: i32) { + self.normal_repeats = normal_repeats; + } + + pub fn with_normal_repeats(mut self, normal_repeats: i32) -> Str { + self.normal_repeats = normal_repeats; + self + } + + pub fn normal_repeats(&self) -> &i32 { + &self.normal_repeats + } + + + pub fn set_pathogenic_repeats(&mut self, pathogenic_repeats: i32) { + self.pathogenic_repeats = pathogenic_repeats; + } + + pub fn with_pathogenic_repeats(mut self, pathogenic_repeats: i32) -> Str { + self.pathogenic_repeats = pathogenic_repeats; + self + } + + pub fn pathogenic_repeats(&self) -> &i32 { + &self.pathogenic_repeats + } + + + pub fn set_tags(&mut self, tags: Vec) { + self.tags = Some(tags); + } + + pub fn with_tags(mut self, tags: Vec) -> Str { + self.tags = Some(tags); + self + } + + pub fn tags(&self) -> Option<&Vec> { + self.tags.as_ref() + } + + pub fn reset_tags(&mut self) { + self.tags = None; + } + + pub fn set_panel(&mut self, panel: ::models::Panel) { + self.panel = Some(panel); + } + + pub fn with_panel(mut self, panel: ::models::Panel) -> Str { + self.panel = Some(panel); + self + } + + pub fn panel(&self) -> Option<&::models::Panel> { + self.panel.as_ref() + } + + pub fn reset_panel(&mut self) { + self.panel = None; + } + +} + + + From 611e931e2ad9629b29dc9e66eb8fcda7466b7cec Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 09:07:01 +0100 Subject: [PATCH 02/10] wip --- src/genes/cli/data/panelapp/activity.rs | 4 ++-- src/genes/cli/data/panelapp/evaluation.rs | 4 ++-- src/genes/cli/data/panelapp/gene.rs | 12 ++++++------ src/genes/cli/data/panelapp/historical_snapshot.rs | 4 ++-- src/genes/cli/data/panelapp/inline_response_200.rs | 14 +++++++------- .../cli/data/panelapp/inline_response_200_1.rs | 4 ++-- .../cli/data/panelapp/inline_response_200_2.rs | 14 +++++++------- .../cli/data/panelapp/inline_response_200_3.rs | 14 +++++++------- .../cli/data/panelapp/inline_response_200_4.rs | 14 +++++++------- .../cli/data/panelapp/inline_response_200_5.rs | 14 +++++++------- .../cli/data/panelapp/inline_response_200_6.rs | 14 +++++++------- .../cli/data/panelapp/inline_response_200_7.rs | 14 +++++++------- src/genes/cli/data/panelapp/mod.rs | 1 + src/genes/cli/data/panelapp/panel.rs | 12 ++++++------ src/genes/cli/data/panelapp/panel_type.rs | 4 ++-- src/genes/cli/data/panelapp/region.rs | 12 ++++++------ src/genes/cli/data/panelapp/str.rs | 12 ++++++------ 17 files changed, 84 insertions(+), 83 deletions(-) diff --git a/src/genes/cli/data/panelapp/activity.rs b/src/genes/cli/data/panelapp/activity.rs index d7419b46..74fa0366 100644 --- a/src/genes/cli/data/panelapp/activity.rs +++ b/src/genes/cli/data/panelapp/activity.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Activity { #[serde(rename = "created")] created: Option, diff --git a/src/genes/cli/data/panelapp/evaluation.rs b/src/genes/cli/data/panelapp/evaluation.rs index 6ad9a7a8..5dd37a83 100644 --- a/src/genes/cli/data/panelapp/evaluation.rs +++ b/src/genes/cli/data/panelapp/evaluation.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Evaluation { #[serde(rename = "created")] created: Option, diff --git a/src/genes/cli/data/panelapp/gene.rs b/src/genes/cli/data/panelapp/gene.rs index 7f4b687e..29e80fc1 100644 --- a/src/genes/cli/data/panelapp/gene.rs +++ b/src/genes/cli/data/panelapp/gene.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Gene { #[serde(rename = "gene_data")] gene_data: Option, @@ -37,7 +37,7 @@ pub struct Gene { #[serde(rename = "tags")] tags: Option>, #[serde(rename = "panel")] - panel: Option<::models::Panel>, + panel: Option, #[serde(rename = "transcript")] transcript: Vec } @@ -227,16 +227,16 @@ impl Gene { self.tags = None; } - pub fn set_panel(&mut self, panel: ::models::Panel) { + pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { self.panel = Some(panel); } - pub fn with_panel(mut self, panel: ::models::Panel) -> Gene { + pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Gene { self.panel = Some(panel); self } - pub fn panel(&self) -> Option<&::models::Panel> { + pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { self.panel.as_ref() } diff --git a/src/genes/cli/data/panelapp/historical_snapshot.rs b/src/genes/cli/data/panelapp/historical_snapshot.rs index fd2d8a3a..c13e56b7 100644 --- a/src/genes/cli/data/panelapp/historical_snapshot.rs +++ b/src/genes/cli/data/panelapp/historical_snapshot.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct HistoricalSnapshot { #[serde(rename = "data")] data: Value, diff --git a/src/genes/cli/data/panelapp/inline_response_200.rs b/src/genes/cli/data/panelapp/inline_response_200.rs index f845038f..d7fe1acd 100644 --- a/src/genes/cli/data/panelapp/inline_response_200.rs +++ b/src/genes/cli/data/panelapp/inline_response_200.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse200 { #[serde(rename = "count")] count: i32, @@ -21,11 +21,11 @@ pub struct InlineResponse200 { #[serde(rename = "previous")] previous: Option, #[serde(rename = "results")] - results: Vec<::models::Activity> + results: Vec } impl InlineResponse200 { - pub fn new(count: i32, results: Vec<::models::Activity>) -> InlineResponse200 { + pub fn new(count: i32, results: Vec) -> InlineResponse200 { InlineResponse200 { count: count, next: None, @@ -82,16 +82,16 @@ impl InlineResponse200 { self.previous = None; } - pub fn set_results(&mut self, results: Vec<::models::Activity>) { + pub fn set_results(&mut self, results: Vec) { self.results = results; } - pub fn with_results(mut self, results: Vec<::models::Activity>) -> InlineResponse200 { + pub fn with_results(mut self, results: Vec) -> InlineResponse200 { self.results = results; self } - pub fn results(&self) -> &Vec<::models::Activity> { + pub fn results(&self) -> &Vec { &self.results } diff --git a/src/genes/cli/data/panelapp/inline_response_200_1.rs b/src/genes/cli/data/panelapp/inline_response_200_1.rs index a242e9e6..00a6da16 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_1.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_1.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2001 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/inline_response_200_2.rs b/src/genes/cli/data/panelapp/inline_response_200_2.rs index 251cceb7..afda3fe6 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_2.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_2.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2002 { #[serde(rename = "count")] count: i32, @@ -21,11 +21,11 @@ pub struct InlineResponse2002 { #[serde(rename = "previous")] previous: Option, #[serde(rename = "results")] - results: Vec<::models::Gene> + results: Vec } impl InlineResponse2002 { - pub fn new(count: i32, results: Vec<::models::Gene>) -> InlineResponse2002 { + pub fn new(count: i32, results: Vec) -> InlineResponse2002 { InlineResponse2002 { count: count, next: None, @@ -82,16 +82,16 @@ impl InlineResponse2002 { self.previous = None; } - pub fn set_results(&mut self, results: Vec<::models::Gene>) { + pub fn set_results(&mut self, results: Vec) { self.results = results; } - pub fn with_results(mut self, results: Vec<::models::Gene>) -> InlineResponse2002 { + pub fn with_results(mut self, results: Vec) -> InlineResponse2002 { self.results = results; self } - pub fn results(&self) -> &Vec<::models::Gene> { + pub fn results(&self) -> &Vec { &self.results } diff --git a/src/genes/cli/data/panelapp/inline_response_200_3.rs b/src/genes/cli/data/panelapp/inline_response_200_3.rs index 42bafd18..55585d49 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_3.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_3.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2003 { #[serde(rename = "count")] count: i32, @@ -21,11 +21,11 @@ pub struct InlineResponse2003 { #[serde(rename = "previous")] previous: Option, #[serde(rename = "results")] - results: Vec<::models::Panel> + results: Vec } impl InlineResponse2003 { - pub fn new(count: i32, results: Vec<::models::Panel>) -> InlineResponse2003 { + pub fn new(count: i32, results: Vec) -> InlineResponse2003 { InlineResponse2003 { count: count, next: None, @@ -82,16 +82,16 @@ impl InlineResponse2003 { self.previous = None; } - pub fn set_results(&mut self, results: Vec<::models::Panel>) { + pub fn set_results(&mut self, results: Vec) { self.results = results; } - pub fn with_results(mut self, results: Vec<::models::Panel>) -> InlineResponse2003 { + pub fn with_results(mut self, results: Vec) -> InlineResponse2003 { self.results = results; self } - pub fn results(&self) -> &Vec<::models::Panel> { + pub fn results(&self) -> &Vec { &self.results } diff --git a/src/genes/cli/data/panelapp/inline_response_200_4.rs b/src/genes/cli/data/panelapp/inline_response_200_4.rs index 6d2fee3d..07a49fa1 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_4.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_4.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2004 { #[serde(rename = "count")] count: i32, @@ -21,11 +21,11 @@ pub struct InlineResponse2004 { #[serde(rename = "previous")] previous: Option, #[serde(rename = "results")] - results: Vec<::models::HistoricalSnapshot> + results: Vec } impl InlineResponse2004 { - pub fn new(count: i32, results: Vec<::models::HistoricalSnapshot>) -> InlineResponse2004 { + pub fn new(count: i32, results: Vec) -> InlineResponse2004 { InlineResponse2004 { count: count, next: None, @@ -82,16 +82,16 @@ impl InlineResponse2004 { self.previous = None; } - pub fn set_results(&mut self, results: Vec<::models::HistoricalSnapshot>) { + pub fn set_results(&mut self, results: Vec) { self.results = results; } - pub fn with_results(mut self, results: Vec<::models::HistoricalSnapshot>) -> InlineResponse2004 { + pub fn with_results(mut self, results: Vec) -> InlineResponse2004 { self.results = results; self } - pub fn results(&self) -> &Vec<::models::HistoricalSnapshot> { + pub fn results(&self) -> &Vec { &self.results } diff --git a/src/genes/cli/data/panelapp/inline_response_200_5.rs b/src/genes/cli/data/panelapp/inline_response_200_5.rs index 06bd8794..24c8ed96 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_5.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_5.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2005 { #[serde(rename = "count")] count: i32, @@ -21,11 +21,11 @@ pub struct InlineResponse2005 { #[serde(rename = "previous")] previous: Option, #[serde(rename = "results")] - results: Vec<::models::Evaluation> + results: Vec } impl InlineResponse2005 { - pub fn new(count: i32, results: Vec<::models::Evaluation>) -> InlineResponse2005 { + pub fn new(count: i32, results: Vec) -> InlineResponse2005 { InlineResponse2005 { count: count, next: None, @@ -82,16 +82,16 @@ impl InlineResponse2005 { self.previous = None; } - pub fn set_results(&mut self, results: Vec<::models::Evaluation>) { + pub fn set_results(&mut self, results: Vec) { self.results = results; } - pub fn with_results(mut self, results: Vec<::models::Evaluation>) -> InlineResponse2005 { + pub fn with_results(mut self, results: Vec) -> InlineResponse2005 { self.results = results; self } - pub fn results(&self) -> &Vec<::models::Evaluation> { + pub fn results(&self) -> &Vec { &self.results } diff --git a/src/genes/cli/data/panelapp/inline_response_200_6.rs b/src/genes/cli/data/panelapp/inline_response_200_6.rs index 120a2334..ade5ab89 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_6.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_6.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2006 { #[serde(rename = "count")] count: i32, @@ -21,11 +21,11 @@ pub struct InlineResponse2006 { #[serde(rename = "previous")] previous: Option, #[serde(rename = "results")] - results: Vec<::models::Region> + results: Vec } impl InlineResponse2006 { - pub fn new(count: i32, results: Vec<::models::Region>) -> InlineResponse2006 { + pub fn new(count: i32, results: Vec) -> InlineResponse2006 { InlineResponse2006 { count: count, next: None, @@ -82,16 +82,16 @@ impl InlineResponse2006 { self.previous = None; } - pub fn set_results(&mut self, results: Vec<::models::Region>) { + pub fn set_results(&mut self, results: Vec) { self.results = results; } - pub fn with_results(mut self, results: Vec<::models::Region>) -> InlineResponse2006 { + pub fn with_results(mut self, results: Vec) -> InlineResponse2006 { self.results = results; self } - pub fn results(&self) -> &Vec<::models::Region> { + pub fn results(&self) -> &Vec { &self.results } diff --git a/src/genes/cli/data/panelapp/inline_response_200_7.rs b/src/genes/cli/data/panelapp/inline_response_200_7.rs index a13cb216..0b49fdd7 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_7.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_7.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2007 { #[serde(rename = "count")] count: i32, @@ -21,11 +21,11 @@ pub struct InlineResponse2007 { #[serde(rename = "previous")] previous: Option, #[serde(rename = "results")] - results: Vec<::models::Str> + results: Vec } impl InlineResponse2007 { - pub fn new(count: i32, results: Vec<::models::Str>) -> InlineResponse2007 { + pub fn new(count: i32, results: Vec) -> InlineResponse2007 { InlineResponse2007 { count: count, next: None, @@ -82,16 +82,16 @@ impl InlineResponse2007 { self.previous = None; } - pub fn set_results(&mut self, results: Vec<::models::Str>) { + pub fn set_results(&mut self, results: Vec) { self.results = results; } - pub fn with_results(mut self, results: Vec<::models::Str>) -> InlineResponse2007 { + pub fn with_results(mut self, results: Vec) -> InlineResponse2007 { self.results = results; self } - pub fn results(&self) -> &Vec<::models::Str> { + pub fn results(&self) -> &Vec { &self.results } diff --git a/src/genes/cli/data/panelapp/mod.rs b/src/genes/cli/data/panelapp/mod.rs index 92acb74e..683d1677 100644 --- a/src/genes/cli/data/panelapp/mod.rs +++ b/src/genes/cli/data/panelapp/mod.rs @@ -1,3 +1,4 @@ +#![allow(missing_docs)] //! Code generated with `swagger-codegen` from: //! //! - https://panelapp.genomicsengland.co.uk/api/docs/?format=openapi diff --git a/src/genes/cli/data/panelapp/panel.rs b/src/genes/cli/data/panelapp/panel.rs index 3878ac2f..298ecd67 100644 --- a/src/genes/cli/data/panelapp/panel.rs +++ b/src/genes/cli/data/panelapp/panel.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Panel { #[serde(rename = "id")] id: i32, @@ -36,7 +36,7 @@ pub struct Panel { #[serde(rename = "stats")] stats: Option, #[serde(rename = "types")] - types: Option> + types: Option> } impl Panel { @@ -220,16 +220,16 @@ impl Panel { self.stats = None; } - pub fn set_types(&mut self, types: Vec<::models::PanelType>) { + pub fn set_types(&mut self, types: Vec) { self.types = Some(types); } - pub fn with_types(mut self, types: Vec<::models::PanelType>) -> Panel { + pub fn with_types(mut self, types: Vec) -> Panel { self.types = Some(types); self } - pub fn types(&self) -> Option<&Vec<::models::PanelType>> { + pub fn types(&self) -> Option<&Vec> { self.types.as_ref() } diff --git a/src/genes/cli/data/panelapp/panel_type.rs b/src/genes/cli/data/panelapp/panel_type.rs index 1279e15d..bec43172 100644 --- a/src/genes/cli/data/panelapp/panel_type.rs +++ b/src/genes/cli/data/panelapp/panel_type.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct PanelType { #[serde(rename = "name")] name: String, diff --git a/src/genes/cli/data/panelapp/region.rs b/src/genes/cli/data/panelapp/region.rs index c5838b12..a517cf2c 100644 --- a/src/genes/cli/data/panelapp/region.rs +++ b/src/genes/cli/data/panelapp/region.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Region { #[serde(rename = "gene_data")] gene_data: Option, @@ -55,7 +55,7 @@ pub struct Region { #[serde(rename = "tags")] tags: Option>, #[serde(rename = "panel")] - panel: Option<::models::Panel> + panel: Option } impl Region { @@ -374,16 +374,16 @@ impl Region { self.tags = None; } - pub fn set_panel(&mut self, panel: ::models::Panel) { + pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { self.panel = Some(panel); } - pub fn with_panel(mut self, panel: ::models::Panel) -> Region { + pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Region { self.panel = Some(panel); self } - pub fn panel(&self) -> Option<&::models::Panel> { + pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { self.panel.as_ref() } diff --git a/src/genes/cli/data/panelapp/str.rs b/src/genes/cli/data/panelapp/str.rs index 4a346bef..5df93811 100644 --- a/src/genes/cli/data/panelapp/str.rs +++ b/src/genes/cli/data/panelapp/str.rs @@ -1,4 +1,4 @@ -/* +/* * PanelApp API * * PanelApp API @@ -12,7 +12,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, Serialize, Deserialize)] +#[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Str { #[serde(rename = "gene_data")] gene_data: Option, @@ -49,7 +49,7 @@ pub struct Str { #[serde(rename = "tags")] tags: Option>, #[serde(rename = "panel")] - panel: Option<::models::Panel> + panel: Option } impl Str { @@ -308,16 +308,16 @@ impl Str { self.tags = None; } - pub fn set_panel(&mut self, panel: ::models::Panel) { + pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { self.panel = Some(panel); } - pub fn with_panel(mut self, panel: ::models::Panel) -> Str { + pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Str { self.panel = Some(panel); self } - pub fn panel(&self) -> Option<&::models::Panel> { + pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { self.panel.as_ref() } From 3fe7088532043c55fec829f625a62286b8c60af7 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 09:11:13 +0100 Subject: [PATCH 03/10] clippy fix --- src/genes/cli/data/panelapp/activity.rs | 342 +++++----- src/genes/cli/data/panelapp/evaluation.rs | 327 +++++---- src/genes/cli/data/panelapp/gene.rs | 398 ++++++----- .../cli/data/panelapp/historical_snapshot.rs | 70 +- .../cli/data/panelapp/inline_response_200.rs | 135 ++-- .../data/panelapp/inline_response_200_1.rs | 129 ++-- .../data/panelapp/inline_response_200_2.rs | 135 ++-- .../data/panelapp/inline_response_200_3.rs | 135 ++-- .../data/panelapp/inline_response_200_4.rs | 138 ++-- .../data/panelapp/inline_response_200_5.rs | 135 ++-- .../data/panelapp/inline_response_200_6.rs | 135 ++-- .../data/panelapp/inline_response_200_7.rs | 135 ++-- src/genes/cli/data/panelapp/mod.rs | 2 + src/genes/cli/data/panelapp/panel.rs | 409 ++++++------ src/genes/cli/data/panelapp/panel_type.rs | 97 ++- src/genes/cli/data/panelapp/region.rs | 632 +++++++++--------- src/genes/cli/data/panelapp/str.rs | 510 +++++++------- 17 files changed, 1906 insertions(+), 1958 deletions(-) diff --git a/src/genes/cli/data/panelapp/activity.rs b/src/genes/cli/data/panelapp/activity.rs index 74fa0366..03b92983 100644 --- a/src/genes/cli/data/panelapp/activity.rs +++ b/src/genes/cli/data/panelapp/activity.rs @@ -8,198 +8,192 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Activity { - #[serde(rename = "created")] - created: Option, - #[serde(rename = "panel_name")] - panel_name: Option, - #[serde(rename = "panel_id")] - panel_id: Option, - #[serde(rename = "panel_version")] - panel_version: Option, - #[serde(rename = "user_name")] - user_name: Option, - #[serde(rename = "item_type")] - item_type: Option, - #[serde(rename = "text")] - text: String, - #[serde(rename = "entity_name")] - entity_name: Option, - #[serde(rename = "entity_type")] - entity_type: Option + #[serde(rename = "created")] + created: Option, + #[serde(rename = "panel_name")] + panel_name: Option, + #[serde(rename = "panel_id")] + panel_id: Option, + #[serde(rename = "panel_version")] + panel_version: Option, + #[serde(rename = "user_name")] + user_name: Option, + #[serde(rename = "item_type")] + item_type: Option, + #[serde(rename = "text")] + text: String, + #[serde(rename = "entity_name")] + entity_name: Option, + #[serde(rename = "entity_type")] + entity_type: Option, } impl Activity { - pub fn new(text: String) -> Activity { - Activity { - created: None, - panel_name: None, - panel_id: None, - panel_version: None, - user_name: None, - item_type: None, - text: text, - entity_name: None, - entity_type: None - } - } - - pub fn set_created(&mut self, created: String) { - self.created = Some(created); - } - - pub fn with_created(mut self, created: String) -> Activity { - self.created = Some(created); - self - } - - pub fn created(&self) -> Option<&String> { - self.created.as_ref() - } - - pub fn reset_created(&mut self) { - self.created = None; - } - - pub fn set_panel_name(&mut self, panel_name: String) { - self.panel_name = Some(panel_name); - } - - pub fn with_panel_name(mut self, panel_name: String) -> Activity { - self.panel_name = Some(panel_name); - self - } - - pub fn panel_name(&self) -> Option<&String> { - self.panel_name.as_ref() - } - - pub fn reset_panel_name(&mut self) { - self.panel_name = None; - } - - pub fn set_panel_id(&mut self, panel_id: String) { - self.panel_id = Some(panel_id); - } - - pub fn with_panel_id(mut self, panel_id: String) -> Activity { - self.panel_id = Some(panel_id); - self - } - - pub fn panel_id(&self) -> Option<&String> { - self.panel_id.as_ref() - } - - pub fn reset_panel_id(&mut self) { - self.panel_id = None; - } - - pub fn set_panel_version(&mut self, panel_version: String) { - self.panel_version = Some(panel_version); - } - - pub fn with_panel_version(mut self, panel_version: String) -> Activity { - self.panel_version = Some(panel_version); - self - } - - pub fn panel_version(&self) -> Option<&String> { - self.panel_version.as_ref() - } - - pub fn reset_panel_version(&mut self) { - self.panel_version = None; - } - - pub fn set_user_name(&mut self, user_name: String) { - self.user_name = Some(user_name); - } - - pub fn with_user_name(mut self, user_name: String) -> Activity { - self.user_name = Some(user_name); - self - } - - pub fn user_name(&self) -> Option<&String> { - self.user_name.as_ref() - } - - pub fn reset_user_name(&mut self) { - self.user_name = None; - } - - pub fn set_item_type(&mut self, item_type: String) { - self.item_type = Some(item_type); - } - - pub fn with_item_type(mut self, item_type: String) -> Activity { - self.item_type = Some(item_type); - self - } - - pub fn item_type(&self) -> Option<&String> { - self.item_type.as_ref() - } - - pub fn reset_item_type(&mut self) { - self.item_type = None; - } - - pub fn set_text(&mut self, text: String) { - self.text = text; - } - - pub fn with_text(mut self, text: String) -> Activity { - self.text = text; - self - } - - pub fn text(&self) -> &String { - &self.text - } + pub fn new(text: String) -> Activity { + Activity { + created: None, + panel_name: None, + panel_id: None, + panel_version: None, + user_name: None, + item_type: None, + text, + entity_name: None, + entity_type: None, + } + } + + pub fn set_created(&mut self, created: String) { + self.created = Some(created); + } + pub fn with_created(mut self, created: String) -> Activity { + self.created = Some(created); + self + } - pub fn set_entity_name(&mut self, entity_name: String) { - self.entity_name = Some(entity_name); - } + pub fn created(&self) -> Option<&String> { + self.created.as_ref() + } - pub fn with_entity_name(mut self, entity_name: String) -> Activity { - self.entity_name = Some(entity_name); - self - } + pub fn reset_created(&mut self) { + self.created = None; + } - pub fn entity_name(&self) -> Option<&String> { - self.entity_name.as_ref() - } + pub fn set_panel_name(&mut self, panel_name: String) { + self.panel_name = Some(panel_name); + } - pub fn reset_entity_name(&mut self) { - self.entity_name = None; - } + pub fn with_panel_name(mut self, panel_name: String) -> Activity { + self.panel_name = Some(panel_name); + self + } - pub fn set_entity_type(&mut self, entity_type: String) { - self.entity_type = Some(entity_type); - } + pub fn panel_name(&self) -> Option<&String> { + self.panel_name.as_ref() + } - pub fn with_entity_type(mut self, entity_type: String) -> Activity { - self.entity_type = Some(entity_type); - self - } + pub fn reset_panel_name(&mut self) { + self.panel_name = None; + } - pub fn entity_type(&self) -> Option<&String> { - self.entity_type.as_ref() - } + pub fn set_panel_id(&mut self, panel_id: String) { + self.panel_id = Some(panel_id); + } - pub fn reset_entity_type(&mut self) { - self.entity_type = None; - } + pub fn with_panel_id(mut self, panel_id: String) -> Activity { + self.panel_id = Some(panel_id); + self + } -} + pub fn panel_id(&self) -> Option<&String> { + self.panel_id.as_ref() + } + pub fn reset_panel_id(&mut self) { + self.panel_id = None; + } + pub fn set_panel_version(&mut self, panel_version: String) { + self.panel_version = Some(panel_version); + } + + pub fn with_panel_version(mut self, panel_version: String) -> Activity { + self.panel_version = Some(panel_version); + self + } + + pub fn panel_version(&self) -> Option<&String> { + self.panel_version.as_ref() + } + + pub fn reset_panel_version(&mut self) { + self.panel_version = None; + } + + pub fn set_user_name(&mut self, user_name: String) { + self.user_name = Some(user_name); + } + + pub fn with_user_name(mut self, user_name: String) -> Activity { + self.user_name = Some(user_name); + self + } + + pub fn user_name(&self) -> Option<&String> { + self.user_name.as_ref() + } + + pub fn reset_user_name(&mut self) { + self.user_name = None; + } + pub fn set_item_type(&mut self, item_type: String) { + self.item_type = Some(item_type); + } + + pub fn with_item_type(mut self, item_type: String) -> Activity { + self.item_type = Some(item_type); + self + } + + pub fn item_type(&self) -> Option<&String> { + self.item_type.as_ref() + } + + pub fn reset_item_type(&mut self) { + self.item_type = None; + } + + pub fn set_text(&mut self, text: String) { + self.text = text; + } + + pub fn with_text(mut self, text: String) -> Activity { + self.text = text; + self + } + + pub fn text(&self) -> &String { + &self.text + } + + pub fn set_entity_name(&mut self, entity_name: String) { + self.entity_name = Some(entity_name); + } + + pub fn with_entity_name(mut self, entity_name: String) -> Activity { + self.entity_name = Some(entity_name); + self + } + + pub fn entity_name(&self) -> Option<&String> { + self.entity_name.as_ref() + } + + pub fn reset_entity_name(&mut self) { + self.entity_name = None; + } + + pub fn set_entity_type(&mut self, entity_type: String) { + self.entity_type = Some(entity_type); + } + + pub fn with_entity_type(mut self, entity_type: String) -> Activity { + self.entity_type = Some(entity_type); + self + } + + pub fn entity_type(&self) -> Option<&String> { + self.entity_type.as_ref() + } + + pub fn reset_entity_type(&mut self) { + self.entity_type = None; + } +} diff --git a/src/genes/cli/data/panelapp/evaluation.rs b/src/genes/cli/data/panelapp/evaluation.rs index 5dd37a83..077ac90e 100644 --- a/src/genes/cli/data/panelapp/evaluation.rs +++ b/src/genes/cli/data/panelapp/evaluation.rs @@ -8,182 +8,177 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Evaluation { - #[serde(rename = "created")] - created: Option, - #[serde(rename = "rating")] - rating: Option, - #[serde(rename = "mode_of_pathogenicity")] - mode_of_pathogenicity: Option, - #[serde(rename = "publications")] - publications: Option>, - #[serde(rename = "phenotypes")] - phenotypes: Option>, - #[serde(rename = "moi")] - moi: Option, - #[serde(rename = "current_diagnostic")] - current_diagnostic: Option, - /// Interruptions in the repeated sequence are reported as part of standard diagnostic practise - #[serde(rename = "clinically_relevant")] - clinically_relevant: Option + #[serde(rename = "created")] + created: Option, + #[serde(rename = "rating")] + rating: Option, + #[serde(rename = "mode_of_pathogenicity")] + mode_of_pathogenicity: Option, + #[serde(rename = "publications")] + publications: Option>, + #[serde(rename = "phenotypes")] + phenotypes: Option>, + #[serde(rename = "moi")] + moi: Option, + #[serde(rename = "current_diagnostic")] + current_diagnostic: Option, + /// Interruptions in the repeated sequence are reported as part of standard diagnostic practise + #[serde(rename = "clinically_relevant")] + clinically_relevant: Option, } impl Evaluation { - pub fn new() -> Evaluation { - Evaluation { - created: None, - rating: None, - mode_of_pathogenicity: None, - publications: None, - phenotypes: None, - moi: None, - current_diagnostic: None, - clinically_relevant: None - } - } - - pub fn set_created(&mut self, created: String) { - self.created = Some(created); - } - - pub fn with_created(mut self, created: String) -> Evaluation { - self.created = Some(created); - self - } - - pub fn created(&self) -> Option<&String> { - self.created.as_ref() - } - - pub fn reset_created(&mut self) { - self.created = None; - } - - pub fn set_rating(&mut self, rating: String) { - self.rating = Some(rating); - } - - pub fn with_rating(mut self, rating: String) -> Evaluation { - self.rating = Some(rating); - self - } - - pub fn rating(&self) -> Option<&String> { - self.rating.as_ref() - } - - pub fn reset_rating(&mut self) { - self.rating = None; - } - - pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - } - - pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Evaluation { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - self - } - - pub fn mode_of_pathogenicity(&self) -> Option<&String> { - self.mode_of_pathogenicity.as_ref() - } - - pub fn reset_mode_of_pathogenicity(&mut self) { - self.mode_of_pathogenicity = None; - } - - pub fn set_publications(&mut self, publications: Vec) { - self.publications = Some(publications); - } - - pub fn with_publications(mut self, publications: Vec) -> Evaluation { - self.publications = Some(publications); - self - } - - pub fn publications(&self) -> Option<&Vec> { - self.publications.as_ref() - } - - pub fn reset_publications(&mut self) { - self.publications = None; - } - - pub fn set_phenotypes(&mut self, phenotypes: Vec) { - self.phenotypes = Some(phenotypes); - } - - pub fn with_phenotypes(mut self, phenotypes: Vec) -> Evaluation { - self.phenotypes = Some(phenotypes); - self - } - - pub fn phenotypes(&self) -> Option<&Vec> { - self.phenotypes.as_ref() - } - - pub fn reset_phenotypes(&mut self) { - self.phenotypes = None; - } - - pub fn set_moi(&mut self, moi: String) { - self.moi = Some(moi); - } - - pub fn with_moi(mut self, moi: String) -> Evaluation { - self.moi = Some(moi); - self - } - - pub fn moi(&self) -> Option<&String> { - self.moi.as_ref() - } + pub fn new() -> Evaluation { + Evaluation { + created: None, + rating: None, + mode_of_pathogenicity: None, + publications: None, + phenotypes: None, + moi: None, + current_diagnostic: None, + clinically_relevant: None, + } + } - pub fn reset_moi(&mut self) { - self.moi = None; - } - - pub fn set_current_diagnostic(&mut self, current_diagnostic: bool) { - self.current_diagnostic = Some(current_diagnostic); - } - - pub fn with_current_diagnostic(mut self, current_diagnostic: bool) -> Evaluation { - self.current_diagnostic = Some(current_diagnostic); - self - } - - pub fn current_diagnostic(&self) -> Option<&bool> { - self.current_diagnostic.as_ref() - } - - pub fn reset_current_diagnostic(&mut self) { - self.current_diagnostic = None; - } - - pub fn set_clinically_relevant(&mut self, clinically_relevant: bool) { - self.clinically_relevant = Some(clinically_relevant); - } - - pub fn with_clinically_relevant(mut self, clinically_relevant: bool) -> Evaluation { - self.clinically_relevant = Some(clinically_relevant); - self - } - - pub fn clinically_relevant(&self) -> Option<&bool> { - self.clinically_relevant.as_ref() - } - - pub fn reset_clinically_relevant(&mut self) { - self.clinically_relevant = None; - } + pub fn set_created(&mut self, created: String) { + self.created = Some(created); + } -} + pub fn with_created(mut self, created: String) -> Evaluation { + self.created = Some(created); + self + } + + pub fn created(&self) -> Option<&String> { + self.created.as_ref() + } + + pub fn reset_created(&mut self) { + self.created = None; + } + + pub fn set_rating(&mut self, rating: String) { + self.rating = Some(rating); + } + + pub fn with_rating(mut self, rating: String) -> Evaluation { + self.rating = Some(rating); + self + } + + pub fn rating(&self) -> Option<&String> { + self.rating.as_ref() + } + + pub fn reset_rating(&mut self) { + self.rating = None; + } + + pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + } + + pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Evaluation { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + self + } + + pub fn mode_of_pathogenicity(&self) -> Option<&String> { + self.mode_of_pathogenicity.as_ref() + } + + pub fn reset_mode_of_pathogenicity(&mut self) { + self.mode_of_pathogenicity = None; + } + + pub fn set_publications(&mut self, publications: Vec) { + self.publications = Some(publications); + } + + pub fn with_publications(mut self, publications: Vec) -> Evaluation { + self.publications = Some(publications); + self + } + pub fn publications(&self) -> Option<&Vec> { + self.publications.as_ref() + } + pub fn reset_publications(&mut self) { + self.publications = None; + } + pub fn set_phenotypes(&mut self, phenotypes: Vec) { + self.phenotypes = Some(phenotypes); + } + + pub fn with_phenotypes(mut self, phenotypes: Vec) -> Evaluation { + self.phenotypes = Some(phenotypes); + self + } + + pub fn phenotypes(&self) -> Option<&Vec> { + self.phenotypes.as_ref() + } + + pub fn reset_phenotypes(&mut self) { + self.phenotypes = None; + } + + pub fn set_moi(&mut self, moi: String) { + self.moi = Some(moi); + } + + pub fn with_moi(mut self, moi: String) -> Evaluation { + self.moi = Some(moi); + self + } + + pub fn moi(&self) -> Option<&String> { + self.moi.as_ref() + } + + pub fn reset_moi(&mut self) { + self.moi = None; + } + + pub fn set_current_diagnostic(&mut self, current_diagnostic: bool) { + self.current_diagnostic = Some(current_diagnostic); + } + + pub fn with_current_diagnostic(mut self, current_diagnostic: bool) -> Evaluation { + self.current_diagnostic = Some(current_diagnostic); + self + } + + pub fn current_diagnostic(&self) -> Option<&bool> { + self.current_diagnostic.as_ref() + } + + pub fn reset_current_diagnostic(&mut self) { + self.current_diagnostic = None; + } + + pub fn set_clinically_relevant(&mut self, clinically_relevant: bool) { + self.clinically_relevant = Some(clinically_relevant); + } + + pub fn with_clinically_relevant(mut self, clinically_relevant: bool) -> Evaluation { + self.clinically_relevant = Some(clinically_relevant); + self + } + + pub fn clinically_relevant(&self) -> Option<&bool> { + self.clinically_relevant.as_ref() + } + + pub fn reset_clinically_relevant(&mut self) { + self.clinically_relevant = None; + } +} diff --git a/src/genes/cli/data/panelapp/gene.rs b/src/genes/cli/data/panelapp/gene.rs index 29e80fc1..6020388b 100644 --- a/src/genes/cli/data/panelapp/gene.rs +++ b/src/genes/cli/data/panelapp/gene.rs @@ -8,257 +8,253 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Gene { - #[serde(rename = "gene_data")] - gene_data: Option, - #[serde(rename = "entity_type")] - entity_type: String, - #[serde(rename = "entity_name")] - entity_name: String, - #[serde(rename = "confidence_level")] - confidence_level: String, - #[serde(rename = "penetrance")] - penetrance: Option, - #[serde(rename = "mode_of_pathogenicity")] - mode_of_pathogenicity: Option, - #[serde(rename = "publications")] - publications: Vec, - #[serde(rename = "evidence")] - evidence: Vec, - #[serde(rename = "phenotypes")] - phenotypes: Vec, - #[serde(rename = "mode_of_inheritance")] - mode_of_inheritance: String, - #[serde(rename = "tags")] - tags: Option>, - #[serde(rename = "panel")] - panel: Option, - #[serde(rename = "transcript")] - transcript: Vec + #[serde(rename = "gene_data")] + gene_data: Option, + #[serde(rename = "entity_type")] + entity_type: String, + #[serde(rename = "entity_name")] + entity_name: String, + #[serde(rename = "confidence_level")] + confidence_level: String, + #[serde(rename = "penetrance")] + penetrance: Option, + #[serde(rename = "mode_of_pathogenicity")] + mode_of_pathogenicity: Option, + #[serde(rename = "publications")] + publications: Vec, + #[serde(rename = "evidence")] + evidence: Vec, + #[serde(rename = "phenotypes")] + phenotypes: Vec, + #[serde(rename = "mode_of_inheritance")] + mode_of_inheritance: String, + #[serde(rename = "tags")] + tags: Option>, + #[serde(rename = "panel")] + panel: Option, + #[serde(rename = "transcript")] + transcript: Vec, } impl Gene { - pub fn new(entity_type: String, entity_name: String, confidence_level: String, publications: Vec, evidence: Vec, phenotypes: Vec, mode_of_inheritance: String, transcript: Vec) -> Gene { - Gene { - gene_data: None, - entity_type: entity_type, - entity_name: entity_name, - confidence_level: confidence_level, - penetrance: None, - mode_of_pathogenicity: None, - publications: publications, - evidence: evidence, - phenotypes: phenotypes, - mode_of_inheritance: mode_of_inheritance, - tags: None, - panel: None, - transcript: transcript - } - } - - pub fn set_gene_data(&mut self, gene_data: Value) { - self.gene_data = Some(gene_data); - } - - pub fn with_gene_data(mut self, gene_data: Value) -> Gene { - self.gene_data = Some(gene_data); - self - } - - pub fn gene_data(&self) -> Option<&Value> { - self.gene_data.as_ref() - } - - pub fn reset_gene_data(&mut self) { - self.gene_data = None; - } - - pub fn set_entity_type(&mut self, entity_type: String) { - self.entity_type = entity_type; - } - - pub fn with_entity_type(mut self, entity_type: String) -> Gene { - self.entity_type = entity_type; - self - } - - pub fn entity_type(&self) -> &String { - &self.entity_type - } - - - pub fn set_entity_name(&mut self, entity_name: String) { - self.entity_name = entity_name; - } + pub fn new( + entity_type: String, + entity_name: String, + confidence_level: String, + publications: Vec, + evidence: Vec, + phenotypes: Vec, + mode_of_inheritance: String, + transcript: Vec, + ) -> Gene { + Gene { + gene_data: None, + entity_type, + entity_name, + confidence_level, + penetrance: None, + mode_of_pathogenicity: None, + publications, + evidence, + phenotypes, + mode_of_inheritance, + tags: None, + panel: None, + transcript, + } + } - pub fn with_entity_name(mut self, entity_name: String) -> Gene { - self.entity_name = entity_name; - self - } + pub fn set_gene_data(&mut self, gene_data: Value) { + self.gene_data = Some(gene_data); + } - pub fn entity_name(&self) -> &String { - &self.entity_name - } + pub fn with_gene_data(mut self, gene_data: Value) -> Gene { + self.gene_data = Some(gene_data); + self + } + pub fn gene_data(&self) -> Option<&Value> { + self.gene_data.as_ref() + } - pub fn set_confidence_level(&mut self, confidence_level: String) { - self.confidence_level = confidence_level; - } + pub fn reset_gene_data(&mut self) { + self.gene_data = None; + } - pub fn with_confidence_level(mut self, confidence_level: String) -> Gene { - self.confidence_level = confidence_level; - self - } + pub fn set_entity_type(&mut self, entity_type: String) { + self.entity_type = entity_type; + } - pub fn confidence_level(&self) -> &String { - &self.confidence_level - } + pub fn with_entity_type(mut self, entity_type: String) -> Gene { + self.entity_type = entity_type; + self + } + pub fn entity_type(&self) -> &String { + &self.entity_type + } - pub fn set_penetrance(&mut self, penetrance: String) { - self.penetrance = Some(penetrance); - } + pub fn set_entity_name(&mut self, entity_name: String) { + self.entity_name = entity_name; + } - pub fn with_penetrance(mut self, penetrance: String) -> Gene { - self.penetrance = Some(penetrance); - self - } + pub fn with_entity_name(mut self, entity_name: String) -> Gene { + self.entity_name = entity_name; + self + } - pub fn penetrance(&self) -> Option<&String> { - self.penetrance.as_ref() - } + pub fn entity_name(&self) -> &String { + &self.entity_name + } - pub fn reset_penetrance(&mut self) { - self.penetrance = None; - } + pub fn set_confidence_level(&mut self, confidence_level: String) { + self.confidence_level = confidence_level; + } - pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - } + pub fn with_confidence_level(mut self, confidence_level: String) -> Gene { + self.confidence_level = confidence_level; + self + } - pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Gene { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - self - } + pub fn confidence_level(&self) -> &String { + &self.confidence_level + } - pub fn mode_of_pathogenicity(&self) -> Option<&String> { - self.mode_of_pathogenicity.as_ref() - } + pub fn set_penetrance(&mut self, penetrance: String) { + self.penetrance = Some(penetrance); + } - pub fn reset_mode_of_pathogenicity(&mut self) { - self.mode_of_pathogenicity = None; - } + pub fn with_penetrance(mut self, penetrance: String) -> Gene { + self.penetrance = Some(penetrance); + self + } - pub fn set_publications(&mut self, publications: Vec) { - self.publications = publications; - } + pub fn penetrance(&self) -> Option<&String> { + self.penetrance.as_ref() + } - pub fn with_publications(mut self, publications: Vec) -> Gene { - self.publications = publications; - self - } + pub fn reset_penetrance(&mut self) { + self.penetrance = None; + } - pub fn publications(&self) -> &Vec { - &self.publications - } + pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + } + pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Gene { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + self + } - pub fn set_evidence(&mut self, evidence: Vec) { - self.evidence = evidence; - } + pub fn mode_of_pathogenicity(&self) -> Option<&String> { + self.mode_of_pathogenicity.as_ref() + } - pub fn with_evidence(mut self, evidence: Vec) -> Gene { - self.evidence = evidence; - self - } + pub fn reset_mode_of_pathogenicity(&mut self) { + self.mode_of_pathogenicity = None; + } - pub fn evidence(&self) -> &Vec { - &self.evidence - } + pub fn set_publications(&mut self, publications: Vec) { + self.publications = publications; + } + pub fn with_publications(mut self, publications: Vec) -> Gene { + self.publications = publications; + self + } - pub fn set_phenotypes(&mut self, phenotypes: Vec) { - self.phenotypes = phenotypes; - } + pub fn publications(&self) -> &Vec { + &self.publications + } - pub fn with_phenotypes(mut self, phenotypes: Vec) -> Gene { - self.phenotypes = phenotypes; - self - } + pub fn set_evidence(&mut self, evidence: Vec) { + self.evidence = evidence; + } - pub fn phenotypes(&self) -> &Vec { - &self.phenotypes - } + pub fn with_evidence(mut self, evidence: Vec) -> Gene { + self.evidence = evidence; + self + } + pub fn evidence(&self) -> &Vec { + &self.evidence + } - pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { - self.mode_of_inheritance = mode_of_inheritance; - } + pub fn set_phenotypes(&mut self, phenotypes: Vec) { + self.phenotypes = phenotypes; + } - pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Gene { - self.mode_of_inheritance = mode_of_inheritance; - self - } + pub fn with_phenotypes(mut self, phenotypes: Vec) -> Gene { + self.phenotypes = phenotypes; + self + } - pub fn mode_of_inheritance(&self) -> &String { - &self.mode_of_inheritance - } + pub fn phenotypes(&self) -> &Vec { + &self.phenotypes + } + pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { + self.mode_of_inheritance = mode_of_inheritance; + } - pub fn set_tags(&mut self, tags: Vec) { - self.tags = Some(tags); - } + pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Gene { + self.mode_of_inheritance = mode_of_inheritance; + self + } - pub fn with_tags(mut self, tags: Vec) -> Gene { - self.tags = Some(tags); - self - } + pub fn mode_of_inheritance(&self) -> &String { + &self.mode_of_inheritance + } - pub fn tags(&self) -> Option<&Vec> { - self.tags.as_ref() - } + pub fn set_tags(&mut self, tags: Vec) { + self.tags = Some(tags); + } - pub fn reset_tags(&mut self) { - self.tags = None; - } + pub fn with_tags(mut self, tags: Vec) -> Gene { + self.tags = Some(tags); + self + } - pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { - self.panel = Some(panel); - } + pub fn tags(&self) -> Option<&Vec> { + self.tags.as_ref() + } - pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Gene { - self.panel = Some(panel); - self - } + pub fn reset_tags(&mut self) { + self.tags = None; + } - pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { - self.panel.as_ref() - } + pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { + self.panel = Some(panel); + } - pub fn reset_panel(&mut self) { - self.panel = None; - } + pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Gene { + self.panel = Some(panel); + self + } - pub fn set_transcript(&mut self, transcript: Vec) { - self.transcript = transcript; - } + pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { + self.panel.as_ref() + } - pub fn with_transcript(mut self, transcript: Vec) -> Gene { - self.transcript = transcript; - self - } + pub fn reset_panel(&mut self) { + self.panel = None; + } - pub fn transcript(&self) -> &Vec { - &self.transcript - } + pub fn set_transcript(&mut self, transcript: Vec) { + self.transcript = transcript; + } + pub fn with_transcript(mut self, transcript: Vec) -> Gene { + self.transcript = transcript; + self + } + pub fn transcript(&self) -> &Vec { + &self.transcript + } } - - - diff --git a/src/genes/cli/data/panelapp/historical_snapshot.rs b/src/genes/cli/data/panelapp/historical_snapshot.rs index c13e56b7..4bab7d9b 100644 --- a/src/genes/cli/data/panelapp/historical_snapshot.rs +++ b/src/genes/cli/data/panelapp/historical_snapshot.rs @@ -8,58 +8,52 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct HistoricalSnapshot { - #[serde(rename = "data")] - data: Value, - #[serde(rename = "signed_off_date")] - signed_off_date: Option + #[serde(rename = "data")] + data: Value, + #[serde(rename = "signed_off_date")] + signed_off_date: Option, } impl HistoricalSnapshot { - pub fn new(data: Value) -> HistoricalSnapshot { - HistoricalSnapshot { - data: data, - signed_off_date: None + pub fn new(data: Value) -> HistoricalSnapshot { + HistoricalSnapshot { + data, + signed_off_date: None, + } } - } - - pub fn set_data(&mut self, data: Value) { - self.data = data; - } - pub fn with_data(mut self, data: Value) -> HistoricalSnapshot { - self.data = data; - self - } - - pub fn data(&self) -> &Value { - &self.data - } + pub fn set_data(&mut self, data: Value) { + self.data = data; + } + pub fn with_data(mut self, data: Value) -> HistoricalSnapshot { + self.data = data; + self + } - pub fn set_signed_off_date(&mut self, signed_off_date: String) { - self.signed_off_date = Some(signed_off_date); - } + pub fn data(&self) -> &Value { + &self.data + } - pub fn with_signed_off_date(mut self, signed_off_date: String) -> HistoricalSnapshot { - self.signed_off_date = Some(signed_off_date); - self - } + pub fn set_signed_off_date(&mut self, signed_off_date: String) { + self.signed_off_date = Some(signed_off_date); + } - pub fn signed_off_date(&self) -> Option<&String> { - self.signed_off_date.as_ref() - } + pub fn with_signed_off_date(mut self, signed_off_date: String) -> HistoricalSnapshot { + self.signed_off_date = Some(signed_off_date); + self + } - pub fn reset_signed_off_date(&mut self) { - self.signed_off_date = None; - } + pub fn signed_off_date(&self) -> Option<&String> { + self.signed_off_date.as_ref() + } + pub fn reset_signed_off_date(&mut self) { + self.signed_off_date = None; + } } - - - diff --git a/src/genes/cli/data/panelapp/inline_response_200.rs b/src/genes/cli/data/panelapp/inline_response_200.rs index d7fe1acd..6a5a5a67 100644 --- a/src/genes/cli/data/panelapp/inline_response_200.rs +++ b/src/genes/cli/data/panelapp/inline_response_200.rs @@ -8,95 +8,94 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse200 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec, } impl InlineResponse200 { - pub fn new(count: i32, results: Vec) -> InlineResponse200 { - InlineResponse200 { - count: count, - next: None, - previous: None, - results: results + pub fn new( + count: i32, + results: Vec, + ) -> InlineResponse200 { + InlineResponse200 { + count, + next: None, + previous: None, + results, + } } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse200 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } + pub fn set_count(&mut self, count: i32) { + self.count = count; + } - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } + pub fn with_count(mut self, count: i32) -> InlineResponse200 { + self.count = count; + self + } - pub fn with_next(mut self, next: String) -> InlineResponse200 { - self.next = Some(next); - self - } + pub fn count(&self) -> &i32 { + &self.count + } - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } - pub fn reset_next(&mut self) { - self.next = None; - } + pub fn with_next(mut self, next: String) -> InlineResponse200 { + self.next = Some(next); + self + } - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } - pub fn with_previous(mut self, previous: String) -> InlineResponse200 { - self.previous = Some(previous); - self - } + pub fn reset_next(&mut self) { + self.next = None; + } - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } - pub fn reset_previous(&mut self) { - self.previous = None; - } + pub fn with_previous(mut self, previous: String) -> InlineResponse200 { + self.previous = Some(previous); + self + } - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } - pub fn with_results(mut self, results: Vec) -> InlineResponse200 { - self.results = results; - self - } + pub fn reset_previous(&mut self) { + self.previous = None; + } - pub fn results(&self) -> &Vec { - &self.results - } + pub fn set_results(&mut self, results: Vec) { + self.results = results; + } + pub fn with_results( + mut self, + results: Vec, + ) -> InlineResponse200 { + self.results = results; + self + } + pub fn results(&self) -> &Vec { + &self.results + } } - - - diff --git a/src/genes/cli/data/panelapp/inline_response_200_1.rs b/src/genes/cli/data/panelapp/inline_response_200_1.rs index 00a6da16..dc98f029 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_1.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_1.rs @@ -8,95 +8,88 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2001 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec, } impl InlineResponse2001 { - pub fn new(count: i32, results: Vec) -> InlineResponse2001 { - InlineResponse2001 { - count: count, - next: None, - previous: None, - results: results + pub fn new(count: i32, results: Vec) -> InlineResponse2001 { + InlineResponse2001 { + count, + next: None, + previous: None, + results, + } } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2001 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } + pub fn set_count(&mut self, count: i32) { + self.count = count; + } - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } + pub fn with_count(mut self, count: i32) -> InlineResponse2001 { + self.count = count; + self + } - pub fn with_next(mut self, next: String) -> InlineResponse2001 { - self.next = Some(next); - self - } + pub fn count(&self) -> &i32 { + &self.count + } - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } - pub fn reset_next(&mut self) { - self.next = None; - } + pub fn with_next(mut self, next: String) -> InlineResponse2001 { + self.next = Some(next); + self + } - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } - pub fn with_previous(mut self, previous: String) -> InlineResponse2001 { - self.previous = Some(previous); - self - } + pub fn reset_next(&mut self) { + self.next = None; + } - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } - pub fn reset_previous(&mut self) { - self.previous = None; - } + pub fn with_previous(mut self, previous: String) -> InlineResponse2001 { + self.previous = Some(previous); + self + } - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } - pub fn with_results(mut self, results: Vec) -> InlineResponse2001 { - self.results = results; - self - } + pub fn reset_previous(&mut self) { + self.previous = None; + } - pub fn results(&self) -> &Vec { - &self.results - } + pub fn set_results(&mut self, results: Vec) { + self.results = results; + } + pub fn with_results(mut self, results: Vec) -> InlineResponse2001 { + self.results = results; + self + } + pub fn results(&self) -> &Vec { + &self.results + } } - - - diff --git a/src/genes/cli/data/panelapp/inline_response_200_2.rs b/src/genes/cli/data/panelapp/inline_response_200_2.rs index afda3fe6..723f31f2 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_2.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_2.rs @@ -8,95 +8,94 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2002 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec, } impl InlineResponse2002 { - pub fn new(count: i32, results: Vec) -> InlineResponse2002 { - InlineResponse2002 { - count: count, - next: None, - previous: None, - results: results + pub fn new( + count: i32, + results: Vec, + ) -> InlineResponse2002 { + InlineResponse2002 { + count, + next: None, + previous: None, + results, + } } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2002 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } + pub fn set_count(&mut self, count: i32) { + self.count = count; + } - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } + pub fn with_count(mut self, count: i32) -> InlineResponse2002 { + self.count = count; + self + } - pub fn with_next(mut self, next: String) -> InlineResponse2002 { - self.next = Some(next); - self - } + pub fn count(&self) -> &i32 { + &self.count + } - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } - pub fn reset_next(&mut self) { - self.next = None; - } + pub fn with_next(mut self, next: String) -> InlineResponse2002 { + self.next = Some(next); + self + } - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } - pub fn with_previous(mut self, previous: String) -> InlineResponse2002 { - self.previous = Some(previous); - self - } + pub fn reset_next(&mut self) { + self.next = None; + } - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } - pub fn reset_previous(&mut self) { - self.previous = None; - } + pub fn with_previous(mut self, previous: String) -> InlineResponse2002 { + self.previous = Some(previous); + self + } - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } - pub fn with_results(mut self, results: Vec) -> InlineResponse2002 { - self.results = results; - self - } + pub fn reset_previous(&mut self) { + self.previous = None; + } - pub fn results(&self) -> &Vec { - &self.results - } + pub fn set_results(&mut self, results: Vec) { + self.results = results; + } + pub fn with_results( + mut self, + results: Vec, + ) -> InlineResponse2002 { + self.results = results; + self + } + pub fn results(&self) -> &Vec { + &self.results + } } - - - diff --git a/src/genes/cli/data/panelapp/inline_response_200_3.rs b/src/genes/cli/data/panelapp/inline_response_200_3.rs index 55585d49..e0b86a92 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_3.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_3.rs @@ -8,95 +8,94 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2003 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec, } impl InlineResponse2003 { - pub fn new(count: i32, results: Vec) -> InlineResponse2003 { - InlineResponse2003 { - count: count, - next: None, - previous: None, - results: results + pub fn new( + count: i32, + results: Vec, + ) -> InlineResponse2003 { + InlineResponse2003 { + count, + next: None, + previous: None, + results, + } } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2003 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } + pub fn set_count(&mut self, count: i32) { + self.count = count; + } - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } + pub fn with_count(mut self, count: i32) -> InlineResponse2003 { + self.count = count; + self + } - pub fn with_next(mut self, next: String) -> InlineResponse2003 { - self.next = Some(next); - self - } + pub fn count(&self) -> &i32 { + &self.count + } - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } - pub fn reset_next(&mut self) { - self.next = None; - } + pub fn with_next(mut self, next: String) -> InlineResponse2003 { + self.next = Some(next); + self + } - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } - pub fn with_previous(mut self, previous: String) -> InlineResponse2003 { - self.previous = Some(previous); - self - } + pub fn reset_next(&mut self) { + self.next = None; + } - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } - pub fn reset_previous(&mut self) { - self.previous = None; - } + pub fn with_previous(mut self, previous: String) -> InlineResponse2003 { + self.previous = Some(previous); + self + } - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } - pub fn with_results(mut self, results: Vec) -> InlineResponse2003 { - self.results = results; - self - } + pub fn reset_previous(&mut self) { + self.previous = None; + } - pub fn results(&self) -> &Vec { - &self.results - } + pub fn set_results(&mut self, results: Vec) { + self.results = results; + } + pub fn with_results( + mut self, + results: Vec, + ) -> InlineResponse2003 { + self.results = results; + self + } + pub fn results(&self) -> &Vec { + &self.results + } } - - - diff --git a/src/genes/cli/data/panelapp/inline_response_200_4.rs b/src/genes/cli/data/panelapp/inline_response_200_4.rs index 07a49fa1..3ee1b22c 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_4.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_4.rs @@ -8,95 +8,97 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2004 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec, } impl InlineResponse2004 { - pub fn new(count: i32, results: Vec) -> InlineResponse2004 { - InlineResponse2004 { - count: count, - next: None, - previous: None, - results: results + pub fn new( + count: i32, + results: Vec, + ) -> InlineResponse2004 { + InlineResponse2004 { + count, + next: None, + previous: None, + results, + } } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2004 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } + pub fn set_count(&mut self, count: i32) { + self.count = count; + } - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } + pub fn with_count(mut self, count: i32) -> InlineResponse2004 { + self.count = count; + self + } - pub fn with_next(mut self, next: String) -> InlineResponse2004 { - self.next = Some(next); - self - } + pub fn count(&self) -> &i32 { + &self.count + } - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } - pub fn reset_next(&mut self) { - self.next = None; - } + pub fn with_next(mut self, next: String) -> InlineResponse2004 { + self.next = Some(next); + self + } - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } - pub fn with_previous(mut self, previous: String) -> InlineResponse2004 { - self.previous = Some(previous); - self - } + pub fn reset_next(&mut self) { + self.next = None; + } - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } - pub fn reset_previous(&mut self) { - self.previous = None; - } + pub fn with_previous(mut self, previous: String) -> InlineResponse2004 { + self.previous = Some(previous); + self + } - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } - pub fn with_results(mut self, results: Vec) -> InlineResponse2004 { - self.results = results; - self - } + pub fn reset_previous(&mut self) { + self.previous = None; + } - pub fn results(&self) -> &Vec { - &self.results - } + pub fn set_results( + &mut self, + results: Vec, + ) { + self.results = results; + } + pub fn with_results( + mut self, + results: Vec, + ) -> InlineResponse2004 { + self.results = results; + self + } + pub fn results(&self) -> &Vec { + &self.results + } } - - - diff --git a/src/genes/cli/data/panelapp/inline_response_200_5.rs b/src/genes/cli/data/panelapp/inline_response_200_5.rs index 24c8ed96..d31405a9 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_5.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_5.rs @@ -8,95 +8,94 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2005 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec, } impl InlineResponse2005 { - pub fn new(count: i32, results: Vec) -> InlineResponse2005 { - InlineResponse2005 { - count: count, - next: None, - previous: None, - results: results + pub fn new( + count: i32, + results: Vec, + ) -> InlineResponse2005 { + InlineResponse2005 { + count, + next: None, + previous: None, + results, + } } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2005 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } + pub fn set_count(&mut self, count: i32) { + self.count = count; + } - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } + pub fn with_count(mut self, count: i32) -> InlineResponse2005 { + self.count = count; + self + } - pub fn with_next(mut self, next: String) -> InlineResponse2005 { - self.next = Some(next); - self - } + pub fn count(&self) -> &i32 { + &self.count + } - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } - pub fn reset_next(&mut self) { - self.next = None; - } + pub fn with_next(mut self, next: String) -> InlineResponse2005 { + self.next = Some(next); + self + } - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } - pub fn with_previous(mut self, previous: String) -> InlineResponse2005 { - self.previous = Some(previous); - self - } + pub fn reset_next(&mut self) { + self.next = None; + } - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } - pub fn reset_previous(&mut self) { - self.previous = None; - } + pub fn with_previous(mut self, previous: String) -> InlineResponse2005 { + self.previous = Some(previous); + self + } - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } - pub fn with_results(mut self, results: Vec) -> InlineResponse2005 { - self.results = results; - self - } + pub fn reset_previous(&mut self) { + self.previous = None; + } - pub fn results(&self) -> &Vec { - &self.results - } + pub fn set_results(&mut self, results: Vec) { + self.results = results; + } + pub fn with_results( + mut self, + results: Vec, + ) -> InlineResponse2005 { + self.results = results; + self + } + pub fn results(&self) -> &Vec { + &self.results + } } - - - diff --git a/src/genes/cli/data/panelapp/inline_response_200_6.rs b/src/genes/cli/data/panelapp/inline_response_200_6.rs index ade5ab89..ce52f74c 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_6.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_6.rs @@ -8,95 +8,94 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2006 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec, } impl InlineResponse2006 { - pub fn new(count: i32, results: Vec) -> InlineResponse2006 { - InlineResponse2006 { - count: count, - next: None, - previous: None, - results: results + pub fn new( + count: i32, + results: Vec, + ) -> InlineResponse2006 { + InlineResponse2006 { + count, + next: None, + previous: None, + results, + } } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2006 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } + pub fn set_count(&mut self, count: i32) { + self.count = count; + } - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } + pub fn with_count(mut self, count: i32) -> InlineResponse2006 { + self.count = count; + self + } - pub fn with_next(mut self, next: String) -> InlineResponse2006 { - self.next = Some(next); - self - } + pub fn count(&self) -> &i32 { + &self.count + } - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } - pub fn reset_next(&mut self) { - self.next = None; - } + pub fn with_next(mut self, next: String) -> InlineResponse2006 { + self.next = Some(next); + self + } - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } - pub fn with_previous(mut self, previous: String) -> InlineResponse2006 { - self.previous = Some(previous); - self - } + pub fn reset_next(&mut self) { + self.next = None; + } - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } - pub fn reset_previous(&mut self) { - self.previous = None; - } + pub fn with_previous(mut self, previous: String) -> InlineResponse2006 { + self.previous = Some(previous); + self + } - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } - pub fn with_results(mut self, results: Vec) -> InlineResponse2006 { - self.results = results; - self - } + pub fn reset_previous(&mut self) { + self.previous = None; + } - pub fn results(&self) -> &Vec { - &self.results - } + pub fn set_results(&mut self, results: Vec) { + self.results = results; + } + pub fn with_results( + mut self, + results: Vec, + ) -> InlineResponse2006 { + self.results = results; + self + } + pub fn results(&self) -> &Vec { + &self.results + } } - - - diff --git a/src/genes/cli/data/panelapp/inline_response_200_7.rs b/src/genes/cli/data/panelapp/inline_response_200_7.rs index 0b49fdd7..b2ab96f2 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_7.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_7.rs @@ -8,95 +8,94 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2007 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec + #[serde(rename = "count")] + count: i32, + #[serde(rename = "next")] + next: Option, + #[serde(rename = "previous")] + previous: Option, + #[serde(rename = "results")] + results: Vec, } impl InlineResponse2007 { - pub fn new(count: i32, results: Vec) -> InlineResponse2007 { - InlineResponse2007 { - count: count, - next: None, - previous: None, - results: results + pub fn new( + count: i32, + results: Vec, + ) -> InlineResponse2007 { + InlineResponse2007 { + count, + next: None, + previous: None, + results, + } } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2007 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } + pub fn set_count(&mut self, count: i32) { + self.count = count; + } - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } + pub fn with_count(mut self, count: i32) -> InlineResponse2007 { + self.count = count; + self + } - pub fn with_next(mut self, next: String) -> InlineResponse2007 { - self.next = Some(next); - self - } + pub fn count(&self) -> &i32 { + &self.count + } - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } + pub fn set_next(&mut self, next: String) { + self.next = Some(next); + } - pub fn reset_next(&mut self) { - self.next = None; - } + pub fn with_next(mut self, next: String) -> InlineResponse2007 { + self.next = Some(next); + self + } - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } + pub fn next(&self) -> Option<&String> { + self.next.as_ref() + } - pub fn with_previous(mut self, previous: String) -> InlineResponse2007 { - self.previous = Some(previous); - self - } + pub fn reset_next(&mut self) { + self.next = None; + } - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } + pub fn set_previous(&mut self, previous: String) { + self.previous = Some(previous); + } - pub fn reset_previous(&mut self) { - self.previous = None; - } + pub fn with_previous(mut self, previous: String) -> InlineResponse2007 { + self.previous = Some(previous); + self + } - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } + pub fn previous(&self) -> Option<&String> { + self.previous.as_ref() + } - pub fn with_results(mut self, results: Vec) -> InlineResponse2007 { - self.results = results; - self - } + pub fn reset_previous(&mut self) { + self.previous = None; + } - pub fn results(&self) -> &Vec { - &self.results - } + pub fn set_results(&mut self, results: Vec) { + self.results = results; + } + pub fn with_results( + mut self, + results: Vec, + ) -> InlineResponse2007 { + self.results = results; + self + } + pub fn results(&self) -> &Vec { + &self.results + } } - - - diff --git a/src/genes/cli/data/panelapp/mod.rs b/src/genes/cli/data/panelapp/mod.rs index 683d1677..ff269825 100644 --- a/src/genes/cli/data/panelapp/mod.rs +++ b/src/genes/cli/data/panelapp/mod.rs @@ -1,4 +1,6 @@ #![allow(missing_docs)] +#![allow(clippy::too_many_arguments)] +#![allow(clippy::new_without_default)] //! Code generated with `swagger-codegen` from: //! //! - https://panelapp.genomicsengland.co.uk/api/docs/?format=openapi diff --git a/src/genes/cli/data/panelapp/panel.rs b/src/genes/cli/data/panelapp/panel.rs index 298ecd67..b45511d0 100644 --- a/src/genes/cli/data/panelapp/panel.rs +++ b/src/genes/cli/data/panelapp/panel.rs @@ -8,236 +8,229 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Panel { - #[serde(rename = "id")] - id: i32, - #[serde(rename = "hash_id")] - hash_id: Option, - #[serde(rename = "name")] - name: Option, - #[serde(rename = "disease_group")] - disease_group: Option, - #[serde(rename = "disease_sub_group")] - disease_sub_group: Option, - #[serde(rename = "status")] - status: Option, - #[serde(rename = "version")] - version: Option, - #[serde(rename = "version_created")] - version_created: Option, - #[serde(rename = "relevant_disorders")] - relevant_disorders: Vec, - /// Object with panel statistics (number of genes or STRs) - #[serde(rename = "stats")] - stats: Option, - #[serde(rename = "types")] - types: Option> + #[serde(rename = "id")] + id: i32, + #[serde(rename = "hash_id")] + hash_id: Option, + #[serde(rename = "name")] + name: Option, + #[serde(rename = "disease_group")] + disease_group: Option, + #[serde(rename = "disease_sub_group")] + disease_sub_group: Option, + #[serde(rename = "status")] + status: Option, + #[serde(rename = "version")] + version: Option, + #[serde(rename = "version_created")] + version_created: Option, + #[serde(rename = "relevant_disorders")] + relevant_disorders: Vec, + /// Object with panel statistics (number of genes or STRs) + #[serde(rename = "stats")] + stats: Option, + #[serde(rename = "types")] + types: Option>, } impl Panel { - pub fn new(id: i32, relevant_disorders: Vec) -> Panel { - Panel { - id: id, - hash_id: None, - name: None, - disease_group: None, - disease_sub_group: None, - status: None, - version: None, - version_created: None, - relevant_disorders: relevant_disorders, - stats: None, - types: None - } - } - - pub fn set_id(&mut self, id: i32) { - self.id = id; - } - - pub fn with_id(mut self, id: i32) -> Panel { - self.id = id; - self - } - - pub fn id(&self) -> &i32 { - &self.id - } - - - pub fn set_hash_id(&mut self, hash_id: String) { - self.hash_id = Some(hash_id); - } - - pub fn with_hash_id(mut self, hash_id: String) -> Panel { - self.hash_id = Some(hash_id); - self - } - - pub fn hash_id(&self) -> Option<&String> { - self.hash_id.as_ref() - } - - pub fn reset_hash_id(&mut self) { - self.hash_id = None; - } - - pub fn set_name(&mut self, name: String) { - self.name = Some(name); - } - - pub fn with_name(mut self, name: String) -> Panel { - self.name = Some(name); - self - } - - pub fn name(&self) -> Option<&String> { - self.name.as_ref() - } - - pub fn reset_name(&mut self) { - self.name = None; - } - - pub fn set_disease_group(&mut self, disease_group: String) { - self.disease_group = Some(disease_group); - } - - pub fn with_disease_group(mut self, disease_group: String) -> Panel { - self.disease_group = Some(disease_group); - self - } - - pub fn disease_group(&self) -> Option<&String> { - self.disease_group.as_ref() - } - - pub fn reset_disease_group(&mut self) { - self.disease_group = None; - } - - pub fn set_disease_sub_group(&mut self, disease_sub_group: String) { - self.disease_sub_group = Some(disease_sub_group); - } - - pub fn with_disease_sub_group(mut self, disease_sub_group: String) -> Panel { - self.disease_sub_group = Some(disease_sub_group); - self - } - - pub fn disease_sub_group(&self) -> Option<&String> { - self.disease_sub_group.as_ref() - } - - pub fn reset_disease_sub_group(&mut self) { - self.disease_sub_group = None; - } - - pub fn set_status(&mut self, status: String) { - self.status = Some(status); - } - - pub fn with_status(mut self, status: String) -> Panel { - self.status = Some(status); - self - } - - pub fn status(&self) -> Option<&String> { - self.status.as_ref() - } + pub fn new(id: i32, relevant_disorders: Vec) -> Panel { + Panel { + id, + hash_id: None, + name: None, + disease_group: None, + disease_sub_group: None, + status: None, + version: None, + version_created: None, + relevant_disorders, + stats: None, + types: None, + } + } - pub fn reset_status(&mut self) { - self.status = None; - } + pub fn set_id(&mut self, id: i32) { + self.id = id; + } - pub fn set_version(&mut self, version: String) { - self.version = Some(version); - } + pub fn with_id(mut self, id: i32) -> Panel { + self.id = id; + self + } - pub fn with_version(mut self, version: String) -> Panel { - self.version = Some(version); - self - } + pub fn id(&self) -> &i32 { + &self.id + } - pub fn version(&self) -> Option<&String> { - self.version.as_ref() - } - - pub fn reset_version(&mut self) { - self.version = None; - } - - pub fn set_version_created(&mut self, version_created: String) { - self.version_created = Some(version_created); - } - - pub fn with_version_created(mut self, version_created: String) -> Panel { - self.version_created = Some(version_created); - self - } - - pub fn version_created(&self) -> Option<&String> { - self.version_created.as_ref() - } - - pub fn reset_version_created(&mut self) { - self.version_created = None; - } - - pub fn set_relevant_disorders(&mut self, relevant_disorders: Vec) { - self.relevant_disorders = relevant_disorders; - } - - pub fn with_relevant_disorders(mut self, relevant_disorders: Vec) -> Panel { - self.relevant_disorders = relevant_disorders; - self - } - - pub fn relevant_disorders(&self) -> &Vec { - &self.relevant_disorders - } + pub fn set_hash_id(&mut self, hash_id: String) { + self.hash_id = Some(hash_id); + } + + pub fn with_hash_id(mut self, hash_id: String) -> Panel { + self.hash_id = Some(hash_id); + self + } + pub fn hash_id(&self) -> Option<&String> { + self.hash_id.as_ref() + } - pub fn set_stats(&mut self, stats: Value) { - self.stats = Some(stats); - } + pub fn reset_hash_id(&mut self) { + self.hash_id = None; + } - pub fn with_stats(mut self, stats: Value) -> Panel { - self.stats = Some(stats); - self - } + pub fn set_name(&mut self, name: String) { + self.name = Some(name); + } - pub fn stats(&self) -> Option<&Value> { - self.stats.as_ref() - } + pub fn with_name(mut self, name: String) -> Panel { + self.name = Some(name); + self + } - pub fn reset_stats(&mut self) { - self.stats = None; - } + pub fn name(&self) -> Option<&String> { + self.name.as_ref() + } - pub fn set_types(&mut self, types: Vec) { - self.types = Some(types); - } + pub fn reset_name(&mut self) { + self.name = None; + } - pub fn with_types(mut self, types: Vec) -> Panel { - self.types = Some(types); - self - } + pub fn set_disease_group(&mut self, disease_group: String) { + self.disease_group = Some(disease_group); + } - pub fn types(&self) -> Option<&Vec> { - self.types.as_ref() - } + pub fn with_disease_group(mut self, disease_group: String) -> Panel { + self.disease_group = Some(disease_group); + self + } - pub fn reset_types(&mut self) { - self.types = None; - } + pub fn disease_group(&self) -> Option<&String> { + self.disease_group.as_ref() + } -} + pub fn reset_disease_group(&mut self) { + self.disease_group = None; + } + + pub fn set_disease_sub_group(&mut self, disease_sub_group: String) { + self.disease_sub_group = Some(disease_sub_group); + } + + pub fn with_disease_sub_group(mut self, disease_sub_group: String) -> Panel { + self.disease_sub_group = Some(disease_sub_group); + self + } + + pub fn disease_sub_group(&self) -> Option<&String> { + self.disease_sub_group.as_ref() + } + + pub fn reset_disease_sub_group(&mut self) { + self.disease_sub_group = None; + } + pub fn set_status(&mut self, status: String) { + self.status = Some(status); + } + pub fn with_status(mut self, status: String) -> Panel { + self.status = Some(status); + self + } + pub fn status(&self) -> Option<&String> { + self.status.as_ref() + } + + pub fn reset_status(&mut self) { + self.status = None; + } + + pub fn set_version(&mut self, version: String) { + self.version = Some(version); + } + + pub fn with_version(mut self, version: String) -> Panel { + self.version = Some(version); + self + } + + pub fn version(&self) -> Option<&String> { + self.version.as_ref() + } + + pub fn reset_version(&mut self) { + self.version = None; + } + + pub fn set_version_created(&mut self, version_created: String) { + self.version_created = Some(version_created); + } + + pub fn with_version_created(mut self, version_created: String) -> Panel { + self.version_created = Some(version_created); + self + } + + pub fn version_created(&self) -> Option<&String> { + self.version_created.as_ref() + } + + pub fn reset_version_created(&mut self) { + self.version_created = None; + } + + pub fn set_relevant_disorders(&mut self, relevant_disorders: Vec) { + self.relevant_disorders = relevant_disorders; + } + + pub fn with_relevant_disorders(mut self, relevant_disorders: Vec) -> Panel { + self.relevant_disorders = relevant_disorders; + self + } + + pub fn relevant_disorders(&self) -> &Vec { + &self.relevant_disorders + } + + pub fn set_stats(&mut self, stats: Value) { + self.stats = Some(stats); + } + + pub fn with_stats(mut self, stats: Value) -> Panel { + self.stats = Some(stats); + self + } + + pub fn stats(&self) -> Option<&Value> { + self.stats.as_ref() + } + + pub fn reset_stats(&mut self) { + self.stats = None; + } + + pub fn set_types(&mut self, types: Vec) { + self.types = Some(types); + } + + pub fn with_types(mut self, types: Vec) -> Panel { + self.types = Some(types); + self + } + + pub fn types(&self) -> Option<&Vec> { + self.types.as_ref() + } + + pub fn reset_types(&mut self) { + self.types = None; + } +} diff --git a/src/genes/cli/data/panelapp/panel_type.rs b/src/genes/cli/data/panelapp/panel_type.rs index bec43172..2bc6ebaa 100644 --- a/src/genes/cli/data/panelapp/panel_type.rs +++ b/src/genes/cli/data/panelapp/panel_type.rs @@ -8,75 +8,68 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct PanelType { - #[serde(rename = "name")] - name: String, - #[serde(rename = "slug")] - slug: Option, - #[serde(rename = "description")] - description: String + #[serde(rename = "name")] + name: String, + #[serde(rename = "slug")] + slug: Option, + #[serde(rename = "description")] + description: String, } impl PanelType { - pub fn new(name: String, description: String) -> PanelType { - PanelType { - name: name, - slug: None, - description: description + pub fn new(name: String, description: String) -> PanelType { + PanelType { + name, + slug: None, + description, + } } - } - - pub fn set_name(&mut self, name: String) { - self.name = name; - } - - pub fn with_name(mut self, name: String) -> PanelType { - self.name = name; - self - } - - pub fn name(&self) -> &String { - &self.name - } + pub fn set_name(&mut self, name: String) { + self.name = name; + } - pub fn set_slug(&mut self, slug: String) { - self.slug = Some(slug); - } + pub fn with_name(mut self, name: String) -> PanelType { + self.name = name; + self + } - pub fn with_slug(mut self, slug: String) -> PanelType { - self.slug = Some(slug); - self - } + pub fn name(&self) -> &String { + &self.name + } - pub fn slug(&self) -> Option<&String> { - self.slug.as_ref() - } + pub fn set_slug(&mut self, slug: String) { + self.slug = Some(slug); + } - pub fn reset_slug(&mut self) { - self.slug = None; - } + pub fn with_slug(mut self, slug: String) -> PanelType { + self.slug = Some(slug); + self + } - pub fn set_description(&mut self, description: String) { - self.description = description; - } + pub fn slug(&self) -> Option<&String> { + self.slug.as_ref() + } - pub fn with_description(mut self, description: String) -> PanelType { - self.description = description; - self - } + pub fn reset_slug(&mut self) { + self.slug = None; + } - pub fn description(&self) -> &String { - &self.description - } + pub fn set_description(&mut self, description: String) { + self.description = description; + } + pub fn with_description(mut self, description: String) -> PanelType { + self.description = description; + self + } + pub fn description(&self) -> &String { + &self.description + } } - - - diff --git a/src/genes/cli/data/panelapp/region.rs b/src/genes/cli/data/panelapp/region.rs index a517cf2c..596fbdea 100644 --- a/src/genes/cli/data/panelapp/region.rs +++ b/src/genes/cli/data/panelapp/region.rs @@ -8,390 +8,386 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Region { - #[serde(rename = "gene_data")] - gene_data: Option, - #[serde(rename = "entity_type")] - entity_type: String, - #[serde(rename = "entity_name")] - entity_name: String, - /// Region Name - #[serde(rename = "verbose_name")] - verbose_name: Option, - #[serde(rename = "confidence_level")] - confidence_level: String, - #[serde(rename = "penetrance")] - penetrance: Option, - #[serde(rename = "mode_of_pathogenicity")] - mode_of_pathogenicity: Option, - #[serde(rename = "haploinsufficiency_score")] - haploinsufficiency_score: Option, - #[serde(rename = "triplosensitivity_score")] - triplosensitivity_score: Option, - /// Required percent of overlap - #[serde(rename = "required_overlap_percentage")] - required_overlap_percentage: i32, - #[serde(rename = "type_of_variants")] - type_of_variants: Option, - #[serde(rename = "publications")] - publications: Vec, - #[serde(rename = "evidence")] - evidence: Vec, - #[serde(rename = "phenotypes")] - phenotypes: Vec, - #[serde(rename = "mode_of_inheritance")] - mode_of_inheritance: String, - #[serde(rename = "chromosome")] - chromosome: String, - #[serde(rename = "grch37_coordinates")] - grch37_coordinates: Vec, - #[serde(rename = "grch38_coordinates")] - grch38_coordinates: Vec, - #[serde(rename = "tags")] - tags: Option>, - #[serde(rename = "panel")] - panel: Option + #[serde(rename = "gene_data")] + gene_data: Option, + #[serde(rename = "entity_type")] + entity_type: String, + #[serde(rename = "entity_name")] + entity_name: String, + /// Region Name + #[serde(rename = "verbose_name")] + verbose_name: Option, + #[serde(rename = "confidence_level")] + confidence_level: String, + #[serde(rename = "penetrance")] + penetrance: Option, + #[serde(rename = "mode_of_pathogenicity")] + mode_of_pathogenicity: Option, + #[serde(rename = "haploinsufficiency_score")] + haploinsufficiency_score: Option, + #[serde(rename = "triplosensitivity_score")] + triplosensitivity_score: Option, + /// Required percent of overlap + #[serde(rename = "required_overlap_percentage")] + required_overlap_percentage: i32, + #[serde(rename = "type_of_variants")] + type_of_variants: Option, + #[serde(rename = "publications")] + publications: Vec, + #[serde(rename = "evidence")] + evidence: Vec, + #[serde(rename = "phenotypes")] + phenotypes: Vec, + #[serde(rename = "mode_of_inheritance")] + mode_of_inheritance: String, + #[serde(rename = "chromosome")] + chromosome: String, + #[serde(rename = "grch37_coordinates")] + grch37_coordinates: Vec, + #[serde(rename = "grch38_coordinates")] + grch38_coordinates: Vec, + #[serde(rename = "tags")] + tags: Option>, + #[serde(rename = "panel")] + panel: Option, } impl Region { - pub fn new(entity_type: String, entity_name: String, confidence_level: String, required_overlap_percentage: i32, publications: Vec, evidence: Vec, phenotypes: Vec, mode_of_inheritance: String, chromosome: String, grch37_coordinates: Vec, grch38_coordinates: Vec) -> Region { - Region { - gene_data: None, - entity_type: entity_type, - entity_name: entity_name, - verbose_name: None, - confidence_level: confidence_level, - penetrance: None, - mode_of_pathogenicity: None, - haploinsufficiency_score: None, - triplosensitivity_score: None, - required_overlap_percentage: required_overlap_percentage, - type_of_variants: None, - publications: publications, - evidence: evidence, - phenotypes: phenotypes, - mode_of_inheritance: mode_of_inheritance, - chromosome: chromosome, - grch37_coordinates: grch37_coordinates, - grch38_coordinates: grch38_coordinates, - tags: None, - panel: None - } - } - - pub fn set_gene_data(&mut self, gene_data: Value) { - self.gene_data = Some(gene_data); - } - - pub fn with_gene_data(mut self, gene_data: Value) -> Region { - self.gene_data = Some(gene_data); - self - } - - pub fn gene_data(&self) -> Option<&Value> { - self.gene_data.as_ref() - } - - pub fn reset_gene_data(&mut self) { - self.gene_data = None; - } - - pub fn set_entity_type(&mut self, entity_type: String) { - self.entity_type = entity_type; - } - - pub fn with_entity_type(mut self, entity_type: String) -> Region { - self.entity_type = entity_type; - self - } - - pub fn entity_type(&self) -> &String { - &self.entity_type - } - - - pub fn set_entity_name(&mut self, entity_name: String) { - self.entity_name = entity_name; - } - - pub fn with_entity_name(mut self, entity_name: String) -> Region { - self.entity_name = entity_name; - self - } - - pub fn entity_name(&self) -> &String { - &self.entity_name - } - - - pub fn set_verbose_name(&mut self, verbose_name: String) { - self.verbose_name = Some(verbose_name); - } - - pub fn with_verbose_name(mut self, verbose_name: String) -> Region { - self.verbose_name = Some(verbose_name); - self - } - - pub fn verbose_name(&self) -> Option<&String> { - self.verbose_name.as_ref() - } - - pub fn reset_verbose_name(&mut self) { - self.verbose_name = None; - } - - pub fn set_confidence_level(&mut self, confidence_level: String) { - self.confidence_level = confidence_level; - } - - pub fn with_confidence_level(mut self, confidence_level: String) -> Region { - self.confidence_level = confidence_level; - self - } - - pub fn confidence_level(&self) -> &String { - &self.confidence_level - } - - - pub fn set_penetrance(&mut self, penetrance: String) { - self.penetrance = Some(penetrance); - } - - pub fn with_penetrance(mut self, penetrance: String) -> Region { - self.penetrance = Some(penetrance); - self - } - - pub fn penetrance(&self) -> Option<&String> { - self.penetrance.as_ref() - } + pub fn new( + entity_type: String, + entity_name: String, + confidence_level: String, + required_overlap_percentage: i32, + publications: Vec, + evidence: Vec, + phenotypes: Vec, + mode_of_inheritance: String, + chromosome: String, + grch37_coordinates: Vec, + grch38_coordinates: Vec, + ) -> Region { + Region { + gene_data: None, + entity_type, + entity_name, + verbose_name: None, + confidence_level, + penetrance: None, + mode_of_pathogenicity: None, + haploinsufficiency_score: None, + triplosensitivity_score: None, + required_overlap_percentage, + type_of_variants: None, + publications, + evidence, + phenotypes, + mode_of_inheritance, + chromosome, + grch37_coordinates, + grch38_coordinates, + tags: None, + panel: None, + } + } - pub fn reset_penetrance(&mut self) { - self.penetrance = None; - } + pub fn set_gene_data(&mut self, gene_data: Value) { + self.gene_data = Some(gene_data); + } - pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - } + pub fn with_gene_data(mut self, gene_data: Value) -> Region { + self.gene_data = Some(gene_data); + self + } - pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Region { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - self - } + pub fn gene_data(&self) -> Option<&Value> { + self.gene_data.as_ref() + } - pub fn mode_of_pathogenicity(&self) -> Option<&String> { - self.mode_of_pathogenicity.as_ref() - } + pub fn reset_gene_data(&mut self) { + self.gene_data = None; + } - pub fn reset_mode_of_pathogenicity(&mut self) { - self.mode_of_pathogenicity = None; - } + pub fn set_entity_type(&mut self, entity_type: String) { + self.entity_type = entity_type; + } - pub fn set_haploinsufficiency_score(&mut self, haploinsufficiency_score: String) { - self.haploinsufficiency_score = Some(haploinsufficiency_score); - } + pub fn with_entity_type(mut self, entity_type: String) -> Region { + self.entity_type = entity_type; + self + } - pub fn with_haploinsufficiency_score(mut self, haploinsufficiency_score: String) -> Region { - self.haploinsufficiency_score = Some(haploinsufficiency_score); - self - } + pub fn entity_type(&self) -> &String { + &self.entity_type + } - pub fn haploinsufficiency_score(&self) -> Option<&String> { - self.haploinsufficiency_score.as_ref() - } + pub fn set_entity_name(&mut self, entity_name: String) { + self.entity_name = entity_name; + } - pub fn reset_haploinsufficiency_score(&mut self) { - self.haploinsufficiency_score = None; - } + pub fn with_entity_name(mut self, entity_name: String) -> Region { + self.entity_name = entity_name; + self + } - pub fn set_triplosensitivity_score(&mut self, triplosensitivity_score: String) { - self.triplosensitivity_score = Some(triplosensitivity_score); - } + pub fn entity_name(&self) -> &String { + &self.entity_name + } - pub fn with_triplosensitivity_score(mut self, triplosensitivity_score: String) -> Region { - self.triplosensitivity_score = Some(triplosensitivity_score); - self - } + pub fn set_verbose_name(&mut self, verbose_name: String) { + self.verbose_name = Some(verbose_name); + } - pub fn triplosensitivity_score(&self) -> Option<&String> { - self.triplosensitivity_score.as_ref() - } + pub fn with_verbose_name(mut self, verbose_name: String) -> Region { + self.verbose_name = Some(verbose_name); + self + } - pub fn reset_triplosensitivity_score(&mut self) { - self.triplosensitivity_score = None; - } + pub fn verbose_name(&self) -> Option<&String> { + self.verbose_name.as_ref() + } - pub fn set_required_overlap_percentage(&mut self, required_overlap_percentage: i32) { - self.required_overlap_percentage = required_overlap_percentage; - } + pub fn reset_verbose_name(&mut self) { + self.verbose_name = None; + } - pub fn with_required_overlap_percentage(mut self, required_overlap_percentage: i32) -> Region { - self.required_overlap_percentage = required_overlap_percentage; - self - } + pub fn set_confidence_level(&mut self, confidence_level: String) { + self.confidence_level = confidence_level; + } - pub fn required_overlap_percentage(&self) -> &i32 { - &self.required_overlap_percentage - } + pub fn with_confidence_level(mut self, confidence_level: String) -> Region { + self.confidence_level = confidence_level; + self + } + pub fn confidence_level(&self) -> &String { + &self.confidence_level + } - pub fn set_type_of_variants(&mut self, type_of_variants: String) { - self.type_of_variants = Some(type_of_variants); - } + pub fn set_penetrance(&mut self, penetrance: String) { + self.penetrance = Some(penetrance); + } - pub fn with_type_of_variants(mut self, type_of_variants: String) -> Region { - self.type_of_variants = Some(type_of_variants); - self - } + pub fn with_penetrance(mut self, penetrance: String) -> Region { + self.penetrance = Some(penetrance); + self + } - pub fn type_of_variants(&self) -> Option<&String> { - self.type_of_variants.as_ref() - } + pub fn penetrance(&self) -> Option<&String> { + self.penetrance.as_ref() + } - pub fn reset_type_of_variants(&mut self) { - self.type_of_variants = None; - } + pub fn reset_penetrance(&mut self) { + self.penetrance = None; + } - pub fn set_publications(&mut self, publications: Vec) { - self.publications = publications; - } + pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + } - pub fn with_publications(mut self, publications: Vec) -> Region { - self.publications = publications; - self - } + pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Region { + self.mode_of_pathogenicity = Some(mode_of_pathogenicity); + self + } - pub fn publications(&self) -> &Vec { - &self.publications - } + pub fn mode_of_pathogenicity(&self) -> Option<&String> { + self.mode_of_pathogenicity.as_ref() + } + pub fn reset_mode_of_pathogenicity(&mut self) { + self.mode_of_pathogenicity = None; + } - pub fn set_evidence(&mut self, evidence: Vec) { - self.evidence = evidence; - } + pub fn set_haploinsufficiency_score(&mut self, haploinsufficiency_score: String) { + self.haploinsufficiency_score = Some(haploinsufficiency_score); + } - pub fn with_evidence(mut self, evidence: Vec) -> Region { - self.evidence = evidence; - self - } + pub fn with_haploinsufficiency_score(mut self, haploinsufficiency_score: String) -> Region { + self.haploinsufficiency_score = Some(haploinsufficiency_score); + self + } - pub fn evidence(&self) -> &Vec { - &self.evidence - } + pub fn haploinsufficiency_score(&self) -> Option<&String> { + self.haploinsufficiency_score.as_ref() + } + pub fn reset_haploinsufficiency_score(&mut self) { + self.haploinsufficiency_score = None; + } - pub fn set_phenotypes(&mut self, phenotypes: Vec) { - self.phenotypes = phenotypes; - } + pub fn set_triplosensitivity_score(&mut self, triplosensitivity_score: String) { + self.triplosensitivity_score = Some(triplosensitivity_score); + } - pub fn with_phenotypes(mut self, phenotypes: Vec) -> Region { - self.phenotypes = phenotypes; - self - } + pub fn with_triplosensitivity_score(mut self, triplosensitivity_score: String) -> Region { + self.triplosensitivity_score = Some(triplosensitivity_score); + self + } - pub fn phenotypes(&self) -> &Vec { - &self.phenotypes - } + pub fn triplosensitivity_score(&self) -> Option<&String> { + self.triplosensitivity_score.as_ref() + } + pub fn reset_triplosensitivity_score(&mut self) { + self.triplosensitivity_score = None; + } - pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { - self.mode_of_inheritance = mode_of_inheritance; - } + pub fn set_required_overlap_percentage(&mut self, required_overlap_percentage: i32) { + self.required_overlap_percentage = required_overlap_percentage; + } - pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Region { - self.mode_of_inheritance = mode_of_inheritance; - self - } + pub fn with_required_overlap_percentage(mut self, required_overlap_percentage: i32) -> Region { + self.required_overlap_percentage = required_overlap_percentage; + self + } - pub fn mode_of_inheritance(&self) -> &String { - &self.mode_of_inheritance - } + pub fn required_overlap_percentage(&self) -> &i32 { + &self.required_overlap_percentage + } + pub fn set_type_of_variants(&mut self, type_of_variants: String) { + self.type_of_variants = Some(type_of_variants); + } - pub fn set_chromosome(&mut self, chromosome: String) { - self.chromosome = chromosome; - } + pub fn with_type_of_variants(mut self, type_of_variants: String) -> Region { + self.type_of_variants = Some(type_of_variants); + self + } - pub fn with_chromosome(mut self, chromosome: String) -> Region { - self.chromosome = chromosome; - self - } + pub fn type_of_variants(&self) -> Option<&String> { + self.type_of_variants.as_ref() + } - pub fn chromosome(&self) -> &String { - &self.chromosome - } + pub fn reset_type_of_variants(&mut self) { + self.type_of_variants = None; + } + pub fn set_publications(&mut self, publications: Vec) { + self.publications = publications; + } - pub fn set_grch37_coordinates(&mut self, grch37_coordinates: Vec) { - self.grch37_coordinates = grch37_coordinates; - } + pub fn with_publications(mut self, publications: Vec) -> Region { + self.publications = publications; + self + } - pub fn with_grch37_coordinates(mut self, grch37_coordinates: Vec) -> Region { - self.grch37_coordinates = grch37_coordinates; - self - } + pub fn publications(&self) -> &Vec { + &self.publications + } - pub fn grch37_coordinates(&self) -> &Vec { - &self.grch37_coordinates - } + pub fn set_evidence(&mut self, evidence: Vec) { + self.evidence = evidence; + } + pub fn with_evidence(mut self, evidence: Vec) -> Region { + self.evidence = evidence; + self + } - pub fn set_grch38_coordinates(&mut self, grch38_coordinates: Vec) { - self.grch38_coordinates = grch38_coordinates; - } + pub fn evidence(&self) -> &Vec { + &self.evidence + } - pub fn with_grch38_coordinates(mut self, grch38_coordinates: Vec) -> Region { - self.grch38_coordinates = grch38_coordinates; - self - } + pub fn set_phenotypes(&mut self, phenotypes: Vec) { + self.phenotypes = phenotypes; + } - pub fn grch38_coordinates(&self) -> &Vec { - &self.grch38_coordinates - } + pub fn with_phenotypes(mut self, phenotypes: Vec) -> Region { + self.phenotypes = phenotypes; + self + } + pub fn phenotypes(&self) -> &Vec { + &self.phenotypes + } - pub fn set_tags(&mut self, tags: Vec) { - self.tags = Some(tags); - } + pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { + self.mode_of_inheritance = mode_of_inheritance; + } - pub fn with_tags(mut self, tags: Vec) -> Region { - self.tags = Some(tags); - self - } + pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Region { + self.mode_of_inheritance = mode_of_inheritance; + self + } - pub fn tags(&self) -> Option<&Vec> { - self.tags.as_ref() - } + pub fn mode_of_inheritance(&self) -> &String { + &self.mode_of_inheritance + } - pub fn reset_tags(&mut self) { - self.tags = None; - } + pub fn set_chromosome(&mut self, chromosome: String) { + self.chromosome = chromosome; + } - pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { - self.panel = Some(panel); - } + pub fn with_chromosome(mut self, chromosome: String) -> Region { + self.chromosome = chromosome; + self + } - pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Region { - self.panel = Some(panel); - self - } + pub fn chromosome(&self) -> &String { + &self.chromosome + } - pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { - self.panel.as_ref() - } + pub fn set_grch37_coordinates(&mut self, grch37_coordinates: Vec) { + self.grch37_coordinates = grch37_coordinates; + } - pub fn reset_panel(&mut self) { - self.panel = None; - } + pub fn with_grch37_coordinates(mut self, grch37_coordinates: Vec) -> Region { + self.grch37_coordinates = grch37_coordinates; + self + } -} + pub fn grch37_coordinates(&self) -> &Vec { + &self.grch37_coordinates + } + pub fn set_grch38_coordinates(&mut self, grch38_coordinates: Vec) { + self.grch38_coordinates = grch38_coordinates; + } + + pub fn with_grch38_coordinates(mut self, grch38_coordinates: Vec) -> Region { + self.grch38_coordinates = grch38_coordinates; + self + } + + pub fn grch38_coordinates(&self) -> &Vec { + &self.grch38_coordinates + } + + pub fn set_tags(&mut self, tags: Vec) { + self.tags = Some(tags); + } + + pub fn with_tags(mut self, tags: Vec) -> Region { + self.tags = Some(tags); + self + } + + pub fn tags(&self) -> Option<&Vec> { + self.tags.as_ref() + } + + pub fn reset_tags(&mut self) { + self.tags = None; + } + + pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { + self.panel = Some(panel); + } + pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Region { + self.panel = Some(panel); + self + } + + pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { + self.panel.as_ref() + } + pub fn reset_panel(&mut self) { + self.panel = None; + } +} diff --git a/src/genes/cli/data/panelapp/str.rs b/src/genes/cli/data/panelapp/str.rs index 5df93811..8eda65c5 100644 --- a/src/genes/cli/data/panelapp/str.rs +++ b/src/genes/cli/data/panelapp/str.rs @@ -8,324 +8,320 @@ * Generated by: https://github.com/swagger-api/swagger-codegen.git */ - #[allow(unused_imports)] use serde_json::Value; #[derive(Debug, serde::Serialize, serde::Deserialize)] pub struct Str { - #[serde(rename = "gene_data")] - gene_data: Option, - #[serde(rename = "entity_type")] - entity_type: String, - #[serde(rename = "entity_name")] - entity_name: String, - #[serde(rename = "confidence_level")] - confidence_level: String, - #[serde(rename = "penetrance")] - penetrance: Option, - #[serde(rename = "publications")] - publications: Vec, - #[serde(rename = "evidence")] - evidence: Vec, - #[serde(rename = "phenotypes")] - phenotypes: Vec, - #[serde(rename = "mode_of_inheritance")] - mode_of_inheritance: String, - #[serde(rename = "repeated_sequence")] - repeated_sequence: String, - #[serde(rename = "chromosome")] - chromosome: String, - #[serde(rename = "grch37_coordinates")] - grch37_coordinates: Vec, - #[serde(rename = "grch38_coordinates")] - grch38_coordinates: Vec, - /// =< Maximum normal number of repeats - #[serde(rename = "normal_repeats")] - normal_repeats: i32, - /// >= Minimum fully penetrant pathogenic number of repeats - #[serde(rename = "pathogenic_repeats")] - pathogenic_repeats: i32, - #[serde(rename = "tags")] - tags: Option>, - #[serde(rename = "panel")] - panel: Option + #[serde(rename = "gene_data")] + gene_data: Option, + #[serde(rename = "entity_type")] + entity_type: String, + #[serde(rename = "entity_name")] + entity_name: String, + #[serde(rename = "confidence_level")] + confidence_level: String, + #[serde(rename = "penetrance")] + penetrance: Option, + #[serde(rename = "publications")] + publications: Vec, + #[serde(rename = "evidence")] + evidence: Vec, + #[serde(rename = "phenotypes")] + phenotypes: Vec, + #[serde(rename = "mode_of_inheritance")] + mode_of_inheritance: String, + #[serde(rename = "repeated_sequence")] + repeated_sequence: String, + #[serde(rename = "chromosome")] + chromosome: String, + #[serde(rename = "grch37_coordinates")] + grch37_coordinates: Vec, + #[serde(rename = "grch38_coordinates")] + grch38_coordinates: Vec, + /// =< Maximum normal number of repeats + #[serde(rename = "normal_repeats")] + normal_repeats: i32, + /// >= Minimum fully penetrant pathogenic number of repeats + #[serde(rename = "pathogenic_repeats")] + pathogenic_repeats: i32, + #[serde(rename = "tags")] + tags: Option>, + #[serde(rename = "panel")] + panel: Option, } impl Str { - pub fn new(entity_type: String, entity_name: String, confidence_level: String, publications: Vec, evidence: Vec, phenotypes: Vec, mode_of_inheritance: String, repeated_sequence: String, chromosome: String, grch37_coordinates: Vec, grch38_coordinates: Vec, normal_repeats: i32, pathogenic_repeats: i32) -> Str { - Str { - gene_data: None, - entity_type: entity_type, - entity_name: entity_name, - confidence_level: confidence_level, - penetrance: None, - publications: publications, - evidence: evidence, - phenotypes: phenotypes, - mode_of_inheritance: mode_of_inheritance, - repeated_sequence: repeated_sequence, - chromosome: chromosome, - grch37_coordinates: grch37_coordinates, - grch38_coordinates: grch38_coordinates, - normal_repeats: normal_repeats, - pathogenic_repeats: pathogenic_repeats, - tags: None, - panel: None - } - } - - pub fn set_gene_data(&mut self, gene_data: Value) { - self.gene_data = Some(gene_data); - } - - pub fn with_gene_data(mut self, gene_data: Value) -> Str { - self.gene_data = Some(gene_data); - self - } - - pub fn gene_data(&self) -> Option<&Value> { - self.gene_data.as_ref() - } - - pub fn reset_gene_data(&mut self) { - self.gene_data = None; - } - - pub fn set_entity_type(&mut self, entity_type: String) { - self.entity_type = entity_type; - } - - pub fn with_entity_type(mut self, entity_type: String) -> Str { - self.entity_type = entity_type; - self - } - - pub fn entity_type(&self) -> &String { - &self.entity_type - } - - - pub fn set_entity_name(&mut self, entity_name: String) { - self.entity_name = entity_name; - } - - pub fn with_entity_name(mut self, entity_name: String) -> Str { - self.entity_name = entity_name; - self - } - - pub fn entity_name(&self) -> &String { - &self.entity_name - } - + pub fn new( + entity_type: String, + entity_name: String, + confidence_level: String, + publications: Vec, + evidence: Vec, + phenotypes: Vec, + mode_of_inheritance: String, + repeated_sequence: String, + chromosome: String, + grch37_coordinates: Vec, + grch38_coordinates: Vec, + normal_repeats: i32, + pathogenic_repeats: i32, + ) -> Str { + Str { + gene_data: None, + entity_type, + entity_name, + confidence_level, + penetrance: None, + publications, + evidence, + phenotypes, + mode_of_inheritance, + repeated_sequence, + chromosome, + grch37_coordinates, + grch38_coordinates, + normal_repeats, + pathogenic_repeats, + tags: None, + panel: None, + } + } - pub fn set_confidence_level(&mut self, confidence_level: String) { - self.confidence_level = confidence_level; - } - - pub fn with_confidence_level(mut self, confidence_level: String) -> Str { - self.confidence_level = confidence_level; - self - } - - pub fn confidence_level(&self) -> &String { - &self.confidence_level - } + pub fn set_gene_data(&mut self, gene_data: Value) { + self.gene_data = Some(gene_data); + } + pub fn with_gene_data(mut self, gene_data: Value) -> Str { + self.gene_data = Some(gene_data); + self + } - pub fn set_penetrance(&mut self, penetrance: String) { - self.penetrance = Some(penetrance); - } + pub fn gene_data(&self) -> Option<&Value> { + self.gene_data.as_ref() + } - pub fn with_penetrance(mut self, penetrance: String) -> Str { - self.penetrance = Some(penetrance); - self - } + pub fn reset_gene_data(&mut self) { + self.gene_data = None; + } - pub fn penetrance(&self) -> Option<&String> { - self.penetrance.as_ref() - } + pub fn set_entity_type(&mut self, entity_type: String) { + self.entity_type = entity_type; + } - pub fn reset_penetrance(&mut self) { - self.penetrance = None; - } + pub fn with_entity_type(mut self, entity_type: String) -> Str { + self.entity_type = entity_type; + self + } - pub fn set_publications(&mut self, publications: Vec) { - self.publications = publications; - } + pub fn entity_type(&self) -> &String { + &self.entity_type + } - pub fn with_publications(mut self, publications: Vec) -> Str { - self.publications = publications; - self - } + pub fn set_entity_name(&mut self, entity_name: String) { + self.entity_name = entity_name; + } - pub fn publications(&self) -> &Vec { - &self.publications - } + pub fn with_entity_name(mut self, entity_name: String) -> Str { + self.entity_name = entity_name; + self + } + pub fn entity_name(&self) -> &String { + &self.entity_name + } - pub fn set_evidence(&mut self, evidence: Vec) { - self.evidence = evidence; - } + pub fn set_confidence_level(&mut self, confidence_level: String) { + self.confidence_level = confidence_level; + } - pub fn with_evidence(mut self, evidence: Vec) -> Str { - self.evidence = evidence; - self - } + pub fn with_confidence_level(mut self, confidence_level: String) -> Str { + self.confidence_level = confidence_level; + self + } - pub fn evidence(&self) -> &Vec { - &self.evidence - } + pub fn confidence_level(&self) -> &String { + &self.confidence_level + } + pub fn set_penetrance(&mut self, penetrance: String) { + self.penetrance = Some(penetrance); + } - pub fn set_phenotypes(&mut self, phenotypes: Vec) { - self.phenotypes = phenotypes; - } + pub fn with_penetrance(mut self, penetrance: String) -> Str { + self.penetrance = Some(penetrance); + self + } - pub fn with_phenotypes(mut self, phenotypes: Vec) -> Str { - self.phenotypes = phenotypes; - self - } + pub fn penetrance(&self) -> Option<&String> { + self.penetrance.as_ref() + } - pub fn phenotypes(&self) -> &Vec { - &self.phenotypes - } + pub fn reset_penetrance(&mut self) { + self.penetrance = None; + } + pub fn set_publications(&mut self, publications: Vec) { + self.publications = publications; + } - pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { - self.mode_of_inheritance = mode_of_inheritance; - } + pub fn with_publications(mut self, publications: Vec) -> Str { + self.publications = publications; + self + } - pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Str { - self.mode_of_inheritance = mode_of_inheritance; - self - } + pub fn publications(&self) -> &Vec { + &self.publications + } - pub fn mode_of_inheritance(&self) -> &String { - &self.mode_of_inheritance - } + pub fn set_evidence(&mut self, evidence: Vec) { + self.evidence = evidence; + } + pub fn with_evidence(mut self, evidence: Vec) -> Str { + self.evidence = evidence; + self + } - pub fn set_repeated_sequence(&mut self, repeated_sequence: String) { - self.repeated_sequence = repeated_sequence; - } + pub fn evidence(&self) -> &Vec { + &self.evidence + } - pub fn with_repeated_sequence(mut self, repeated_sequence: String) -> Str { - self.repeated_sequence = repeated_sequence; - self - } + pub fn set_phenotypes(&mut self, phenotypes: Vec) { + self.phenotypes = phenotypes; + } - pub fn repeated_sequence(&self) -> &String { - &self.repeated_sequence - } + pub fn with_phenotypes(mut self, phenotypes: Vec) -> Str { + self.phenotypes = phenotypes; + self + } + pub fn phenotypes(&self) -> &Vec { + &self.phenotypes + } - pub fn set_chromosome(&mut self, chromosome: String) { - self.chromosome = chromosome; - } + pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { + self.mode_of_inheritance = mode_of_inheritance; + } - pub fn with_chromosome(mut self, chromosome: String) -> Str { - self.chromosome = chromosome; - self - } + pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Str { + self.mode_of_inheritance = mode_of_inheritance; + self + } - pub fn chromosome(&self) -> &String { - &self.chromosome - } + pub fn mode_of_inheritance(&self) -> &String { + &self.mode_of_inheritance + } + pub fn set_repeated_sequence(&mut self, repeated_sequence: String) { + self.repeated_sequence = repeated_sequence; + } - pub fn set_grch37_coordinates(&mut self, grch37_coordinates: Vec) { - self.grch37_coordinates = grch37_coordinates; - } + pub fn with_repeated_sequence(mut self, repeated_sequence: String) -> Str { + self.repeated_sequence = repeated_sequence; + self + } - pub fn with_grch37_coordinates(mut self, grch37_coordinates: Vec) -> Str { - self.grch37_coordinates = grch37_coordinates; - self - } + pub fn repeated_sequence(&self) -> &String { + &self.repeated_sequence + } - pub fn grch37_coordinates(&self) -> &Vec { - &self.grch37_coordinates - } + pub fn set_chromosome(&mut self, chromosome: String) { + self.chromosome = chromosome; + } + pub fn with_chromosome(mut self, chromosome: String) -> Str { + self.chromosome = chromosome; + self + } - pub fn set_grch38_coordinates(&mut self, grch38_coordinates: Vec) { - self.grch38_coordinates = grch38_coordinates; - } + pub fn chromosome(&self) -> &String { + &self.chromosome + } - pub fn with_grch38_coordinates(mut self, grch38_coordinates: Vec) -> Str { - self.grch38_coordinates = grch38_coordinates; - self - } + pub fn set_grch37_coordinates(&mut self, grch37_coordinates: Vec) { + self.grch37_coordinates = grch37_coordinates; + } - pub fn grch38_coordinates(&self) -> &Vec { - &self.grch38_coordinates - } + pub fn with_grch37_coordinates(mut self, grch37_coordinates: Vec) -> Str { + self.grch37_coordinates = grch37_coordinates; + self + } + pub fn grch37_coordinates(&self) -> &Vec { + &self.grch37_coordinates + } - pub fn set_normal_repeats(&mut self, normal_repeats: i32) { - self.normal_repeats = normal_repeats; - } + pub fn set_grch38_coordinates(&mut self, grch38_coordinates: Vec) { + self.grch38_coordinates = grch38_coordinates; + } - pub fn with_normal_repeats(mut self, normal_repeats: i32) -> Str { - self.normal_repeats = normal_repeats; - self - } + pub fn with_grch38_coordinates(mut self, grch38_coordinates: Vec) -> Str { + self.grch38_coordinates = grch38_coordinates; + self + } - pub fn normal_repeats(&self) -> &i32 { - &self.normal_repeats - } + pub fn grch38_coordinates(&self) -> &Vec { + &self.grch38_coordinates + } + pub fn set_normal_repeats(&mut self, normal_repeats: i32) { + self.normal_repeats = normal_repeats; + } - pub fn set_pathogenic_repeats(&mut self, pathogenic_repeats: i32) { - self.pathogenic_repeats = pathogenic_repeats; - } + pub fn with_normal_repeats(mut self, normal_repeats: i32) -> Str { + self.normal_repeats = normal_repeats; + self + } - pub fn with_pathogenic_repeats(mut self, pathogenic_repeats: i32) -> Str { - self.pathogenic_repeats = pathogenic_repeats; - self - } + pub fn normal_repeats(&self) -> &i32 { + &self.normal_repeats + } - pub fn pathogenic_repeats(&self) -> &i32 { - &self.pathogenic_repeats - } + pub fn set_pathogenic_repeats(&mut self, pathogenic_repeats: i32) { + self.pathogenic_repeats = pathogenic_repeats; + } + pub fn with_pathogenic_repeats(mut self, pathogenic_repeats: i32) -> Str { + self.pathogenic_repeats = pathogenic_repeats; + self + } - pub fn set_tags(&mut self, tags: Vec) { - self.tags = Some(tags); - } + pub fn pathogenic_repeats(&self) -> &i32 { + &self.pathogenic_repeats + } - pub fn with_tags(mut self, tags: Vec) -> Str { - self.tags = Some(tags); - self - } + pub fn set_tags(&mut self, tags: Vec) { + self.tags = Some(tags); + } - pub fn tags(&self) -> Option<&Vec> { - self.tags.as_ref() - } + pub fn with_tags(mut self, tags: Vec) -> Str { + self.tags = Some(tags); + self + } - pub fn reset_tags(&mut self) { - self.tags = None; - } + pub fn tags(&self) -> Option<&Vec> { + self.tags.as_ref() + } - pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { - self.panel = Some(panel); - } + pub fn reset_tags(&mut self) { + self.tags = None; + } - pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Str { - self.panel = Some(panel); - self - } + pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { + self.panel = Some(panel); + } - pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { - self.panel.as_ref() - } + pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Str { + self.panel = Some(panel); + self + } - pub fn reset_panel(&mut self) { - self.panel = None; - } + pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { + self.panel.as_ref() + } + pub fn reset_panel(&mut self) { + self.panel = None; + } } - - - From 8fac07986aab3488e76fbb5452c06727eb5e8a32 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 09:33:13 +0100 Subject: [PATCH 04/10] deser test --- src/genes/cli/data/mod.rs | 14 + src/genes/cli/data/panelapp/gene.rs | 2 + ...ta__tests__deserialize_acmg_sf_record.snap | 2 +- ...ta__tests__deserialize_clingen_record.snap | 2 +- ...ata__tests__deserialize_dbnsfp_record.snap | 2 +- ...tests__deserialize_decipher_hi_record.snap | 2 +- ...ata__tests__deserialize_domino_record.snap | 2 +- ...s__deserialize_gnomad_constraints@2.1.snap | 2 +- ...s__deserialize_gnomad_constraints@4.0.snap | 2 +- ..._data__tests__deserialize_gtex_record.snap | 2 +- ..._data__tests__deserialize_hgnc_record.snap | 2 +- ..._data__tests__deserialize_ncbi_record.snap | 2 +- ..._data__tests__deserialize_omim_record.snap | 2 +- ...ests__deserialize_panelapp_record.snap.new | 322 ++++++++++++++++++ ..._data__tests__deserialize_rcnv_record.snap | 2 +- ..._data__tests__deserialize_shet_record.snap | 2 +- tests/genes/panelapp/panelapp.jsonl | 5 + 17 files changed, 356 insertions(+), 13 deletions(-) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap (99%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap (99%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap (99%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap (97%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap (95%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap (97%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap (99%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap (99%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap (98%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap (96%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap (96%) create mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap.new rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap (99%) rename src/genes/cli/{ => data}/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap (99%) create mode 100644 tests/genes/panelapp/panelapp.jsonl diff --git a/src/genes/cli/data/mod.rs b/src/genes/cli/data/mod.rs index 11bb7ac3..aa289816 100644 --- a/src/genes/cli/data/mod.rs +++ b/src/genes/cli/data/mod.rs @@ -2202,6 +2202,20 @@ mod tests { Ok(()) } + #[test] + fn deserialize_panelapp_record() -> Result<(), anyhow::Error> { + let path_jsonl = "tests/genes/panelapp/panelapp.jsonl"; + let str_jsonl = std::fs::read_to_string(path_jsonl)?; + let records = str_jsonl + .lines() + .map(|s| serde_json::from_str::(s).unwrap()) + .collect::>(); + + insta::assert_yaml_snapshot!(records); + + Ok(()) + } + #[test] fn deserialize_ncbi_record() -> Result<(), anyhow::Error> { let path_tsv = "tests/genes/acmg/acmg.tsv"; diff --git a/src/genes/cli/data/panelapp/gene.rs b/src/genes/cli/data/panelapp/gene.rs index 6020388b..86710d40 100644 --- a/src/genes/cli/data/panelapp/gene.rs +++ b/src/genes/cli/data/panelapp/gene.rs @@ -38,6 +38,8 @@ pub struct Gene { #[serde(rename = "panel")] panel: Option, #[serde(rename = "transcript")] + #[serde(skip_serializing_if = "Vec::is_empty")] + #[serde(default)] transcript: Vec, } diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap similarity index 99% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap index a426d8a8..70c4d276 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - gene_id: "673" diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap similarity index 99% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap index 6b3f7dd1..9d66747c 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - gene_symbol: A4GALT diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap similarity index 99% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap index 487c738f..648ca1ea 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - gene_name: BRAF diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap similarity index 97% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap index 44abb613..4945d819 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - hgnc_id: "HGNC:100" diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap similarity index 95% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap index f96a4212..073082d1 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - gene_symbol: SF3B1 diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap similarity index 97% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap index 831d9752..d9861f35 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - ensembl_gene_id: ENSG00000133703 diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap similarity index 99% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap index f09e7c79..39811dcc 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - ensembl_gene_id: ENSG00000121410 diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap similarity index 99% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap index fb367faf..32068e0f 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - hgnc_id: "HGNC:37102" diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap similarity index 98% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap index 7165778c..6eb64025 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - hgnc_id: "HGNC:12403" diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap similarity index 96% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap index 1e5569d8..e57691f0 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - hgnc_id: "HGNC:130" diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap similarity index 96% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap index a86c701b..3cd24e37 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - hgnc_id: "HGNC:20" diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap.new b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap.new new file mode 100644 index 00000000..6fb7234d --- /dev/null +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap.new @@ -0,0 +1,322 @@ +--- +source: src/genes/cli/data/mod.rs +assertion_line: 2214 +expression: records +--- +- gene_data: + alias: + - RNF163 + - ZCCHC22 + - CNBP1 + biotype: protein_coding + hgnc_id: "HGNC:13164" + gene_name: CCHC-type zinc finger nucleic acid binding protein + omim_gene: + - "116955" + alias_name: ~ + gene_symbol: CNBP + hgnc_symbol: CNBP + hgnc_release: 2017-11-03 + ensembl_genes: + GRch37: + "82": + location: "3:128888327-128902765" + ensembl_id: ENSG00000169714 + GRch38: + "90": + location: "3:129169484-129183922" + ensembl_id: ENSG00000169714 + hgnc_date_symbol_changed: 2006-06-29 + entity_type: str + entity_name: CNBP_CCTG + confidence_level: "1" + penetrance: ~ + mode_of_pathogenicity: ~ + publications: [] + evidence: + - NHS GMS + - Expert Review Red + - Expert list + phenotypes: + - "Myotonic dystrophy 2, OMIM:602668" + - "Myotonic dystrophy type 2, MONDO:0011266" + mode_of_inheritance: "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" + tags: + - STR + - NGS Not Validated + panel: + id: 229 + hash_id: 55c4a3ed22c1fc0fe5e416e9 + name: Skeletal Muscle Channelopathies + disease_group: Neurology and neurodevelopmental disorders + disease_sub_group: Channelopathies + status: public + version: "1.45" + version_created: "2022-03-10T17:10:13.493246Z" + relevant_disorders: [] + stats: + number_of_genes: 22 + number_of_strs: 2 + number_of_regions: 0 + types: + - name: Rare Disease 100K + slug: rare-disease-100k + description: Rare Disease 100K +- gene_data: + alias: + - DMK + - DM1PK + - MDPK + - MT-PK + biotype: protein_coding + hgnc_id: "HGNC:2933" + gene_name: DM1 protein kinase + omim_gene: + - "605377" + alias_name: + - dystrophia myotonica 1 + - DM protein kinase + - myotonin protein kinase A + - myotonic dystrophy associated protein kinase + - thymopoietin homolog + gene_symbol: DMPK + hgnc_symbol: DMPK + hgnc_release: 2017-11-03 + ensembl_genes: + GRch37: + "82": + location: "19:46272975-46285810" + ensembl_id: ENSG00000104936 + GRch38: + "90": + location: "19:45769717-45782552" + ensembl_id: ENSG00000104936 + hgnc_date_symbol_changed: 1997-10-10 + entity_type: str + entity_name: DMPK_CTG + confidence_level: "3" + penetrance: ~ + mode_of_pathogenicity: ~ + publications: [] + evidence: + - Expert Review Green + - NHS GMS + - Expert list + phenotypes: + - "Myotonic dystrophy 1, OMIM:160900" + mode_of_inheritance: "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" + tags: + - STR + panel: + id: 229 + hash_id: 55c4a3ed22c1fc0fe5e416e9 + name: Skeletal Muscle Channelopathies + disease_group: Neurology and neurodevelopmental disorders + disease_sub_group: Channelopathies + status: public + version: "1.45" + version_created: "2022-03-10T17:10:13.493246Z" + relevant_disorders: [] + stats: + number_of_genes: 22 + number_of_strs: 2 + number_of_regions: 0 + types: + - name: Rare Disease 100K + slug: rare-disease-100k + description: Rare Disease 100K +- gene_data: + alias: + - DMK + - DM1PK + - MDPK + - MT-PK + biotype: protein_coding + hgnc_id: "HGNC:2933" + gene_name: DM1 protein kinase + omim_gene: + - "605377" + alias_name: + - dystrophia myotonica 1 + - DM protein kinase + - myotonin protein kinase A + - myotonic dystrophy associated protein kinase + - thymopoietin homolog + gene_symbol: DMPK + hgnc_symbol: DMPK + hgnc_release: 2017-11-03 + ensembl_genes: + GRch37: + "82": + location: "19:46272975-46285810" + ensembl_id: ENSG00000104936 + GRch38: + "90": + location: "19:45769717-45782552" + ensembl_id: ENSG00000104936 + hgnc_date_symbol_changed: 1997-10-10 + entity_type: str + entity_name: DMPK_CTG + confidence_level: "1" + penetrance: ~ + mode_of_pathogenicity: ~ + publications: [] + evidence: + - NHS GMS + - Expert Review Red + - Expert list + phenotypes: + - "Myotonic dystrophy 1, OMIM:160900" + mode_of_inheritance: "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" + tags: + - STR + panel: + id: 144 + hash_id: 5763f4868f620350a199604f + name: Fetal hydrops + disease_group: Dysmorphic and congenital abnormality syndromes + disease_sub_group: Fetal disorders + status: public + version: "1.61" + version_created: "2023-07-26T10:19:26.703341Z" + relevant_disorders: [] + stats: + number_of_genes: 91 + number_of_strs: 1 + number_of_regions: 0 + types: + - name: Rare Disease 100K + slug: rare-disease-100k + description: Rare Disease 100K +- gene_data: + alias: + - AIS + - NR3C4 + - SMAX1 + - HUMARA + biotype: protein_coding + hgnc_id: "HGNC:644" + gene_name: androgen receptor + omim_gene: + - "313700" + alias_name: + - testicular feminization + - Kennedy disease + gene_symbol: AR + hgnc_symbol: AR + hgnc_release: 2017-11-03 + ensembl_genes: + GRch37: + "82": + location: "X:66764465-66950461" + ensembl_id: ENSG00000169083 + GRch38: + "90": + location: "X:67544032-67730619" + ensembl_id: ENSG00000169083 + hgnc_date_symbol_changed: 1986-01-01 + entity_type: str + entity_name: AR_CAG + confidence_level: "3" + penetrance: ~ + mode_of_pathogenicity: ~ + publications: [] + evidence: + - Expert Review Green + - NHS GMS + - Expert list + phenotypes: + - "Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200" + mode_of_inheritance: "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" + tags: + - STR + panel: + id: 235 + hash_id: 55b7a0bb22c1fc05fd2345d1 + name: Distal myopathies + disease_group: Neurology and neurodevelopmental disorders + disease_sub_group: Neuromuscular disorders + status: public + version: "3.16" + version_created: "2023-10-25T21:25:56.162797Z" + relevant_disorders: [] + stats: + number_of_genes: 31 + number_of_strs: 2 + number_of_regions: 0 + types: + - name: Rare Disease 100K + slug: rare-disease-100k + description: Rare Disease 100K + - name: Component Of Super Panel + slug: component-of-super-panel + description: This panel is a component of a Super Panel + - name: GMS signed-off + slug: gms-signed-off + description: This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS. +- gene_data: + alias: + - RNF163 + - ZCCHC22 + - CNBP1 + biotype: protein_coding + hgnc_id: "HGNC:13164" + gene_name: CCHC-type zinc finger nucleic acid binding protein + omim_gene: + - "116955" + alias_name: ~ + gene_symbol: CNBP + hgnc_symbol: CNBP + hgnc_release: 2017-11-03 + ensembl_genes: + GRch37: + "82": + location: "3:128888327-128902765" + ensembl_id: ENSG00000169714 + GRch38: + "90": + location: "3:129169484-129183922" + ensembl_id: ENSG00000169714 + hgnc_date_symbol_changed: 2006-06-29 + entity_type: str + entity_name: CNBP_CCTG + confidence_level: "1" + penetrance: ~ + mode_of_pathogenicity: ~ + publications: [] + evidence: + - NHS GMS + - Expert Review Red + - Expert list + phenotypes: + - "Myotonic dystrophy 2, OMIM:602668" + - "Myotonic dystrophy type 2, MONDO:0011266" + mode_of_inheritance: "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" + tags: + - STR + - NGS Not Validated + panel: + id: 235 + hash_id: 55b7a0bb22c1fc05fd2345d1 + name: Distal myopathies + disease_group: Neurology and neurodevelopmental disorders + disease_sub_group: Neuromuscular disorders + status: public + version: "3.16" + version_created: "2023-10-25T21:25:56.162797Z" + relevant_disorders: [] + stats: + number_of_genes: 31 + number_of_strs: 2 + number_of_regions: 0 + types: + - name: Rare Disease 100K + slug: rare-disease-100k + description: Rare Disease 100K + - name: Component Of Super Panel + slug: component-of-super-panel + description: This panel is a component of a Super Panel + - name: GMS signed-off + slug: gms-signed-off + description: This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS. + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap similarity index 99% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap index 7875e2ca..0504510f 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - hgnc_id: "HGNC:100" diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap similarity index 99% rename from src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap index e717f735..a677a737 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap @@ -1,5 +1,5 @@ --- -source: src/genes/cli/data.rs +source: src/genes/cli/data/mod.rs expression: records --- - hgnc_id: "HGNC:100" diff --git a/tests/genes/panelapp/panelapp.jsonl b/tests/genes/panelapp/panelapp.jsonl new file mode 100644 index 00000000..d0570b51 --- /dev/null +++ b/tests/genes/panelapp/panelapp.jsonl @@ -0,0 +1,5 @@ +{"gene_data": {"alias": ["RNF163", "ZCCHC22", "CNBP1"], "biotype": "protein_coding", "hgnc_id": "HGNC:13164", "gene_name": "CCHC-type zinc finger nucleic acid binding protein", "omim_gene": ["116955"], "alias_name": null, "gene_symbol": "CNBP", "hgnc_symbol": "CNBP", "hgnc_release": "2017-11-03", "ensembl_genes": {"GRch37": {"82": {"location": "3:128888327-128902765", "ensembl_id": "ENSG00000169714"}}, "GRch38": {"90": {"location": "3:129169484-129183922", "ensembl_id": "ENSG00000169714"}}}, "hgnc_date_symbol_changed": "2006-06-29"}, "entity_type": "str", "entity_name": "CNBP_CCTG", "confidence_level": "1", "penetrance": null, "publications": [], "evidence": ["NHS GMS", "Expert Review Red", "Expert list"], "phenotypes": ["Myotonic dystrophy 2, OMIM:602668", "Myotonic dystrophy type 2, MONDO:0011266"], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAGG", "chromosome": "3", "grch37_coordinates": [128891420, 128891499], "grch38_coordinates": [129172577, 129172656], "normal_repeats": 27, "pathogenic_repeats": 75, "tags": ["STR", "NGS Not Validated"], "panel": {"id": 229, "hash_id": "55c4a3ed22c1fc0fe5e416e9", "name": "Skeletal Muscle Channelopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Channelopathies", "status": "public", "version": "1.45", "version_created": "2022-03-10T17:10:13.493246Z", "relevant_disorders": [], "stats": {"number_of_genes": 22, "number_of_strs": 2, "number_of_regions": 0}, "types": [{"name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K"}]}} +{"gene_data": {"alias": ["DMK", "DM1PK", "MDPK", "MT-PK"], "biotype": "protein_coding", "hgnc_id": "HGNC:2933", "gene_name": "DM1 protein kinase", "omim_gene": ["605377"], "alias_name": ["dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"], "gene_symbol": "DMPK", "hgnc_symbol": "DMPK", "hgnc_release": "2017-11-03", "ensembl_genes": {"GRch37": {"82": {"location": "19:46272975-46285810", "ensembl_id": "ENSG00000104936"}}, "GRch38": {"90": {"location": "19:45769717-45782552", "ensembl_id": "ENSG00000104936"}}}, "hgnc_date_symbol_changed": "1997-10-10"}, "entity_type": "str", "entity_name": "DMPK_CTG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": ["Expert Review Green", "NHS GMS", "Expert list"], "phenotypes": ["Myotonic dystrophy 1, OMIM:160900"], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CTG", "chromosome": "19", "grch37_coordinates": [46273463, 46273522], "grch38_coordinates": [45770205, 45770264], "normal_repeats": 35, "pathogenic_repeats": 50, "tags": ["STR"], "panel": {"id": 229, "hash_id": "55c4a3ed22c1fc0fe5e416e9", "name": "Skeletal Muscle Channelopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Channelopathies", "status": "public", "version": "1.45", "version_created": "2022-03-10T17:10:13.493246Z", "relevant_disorders": [], "stats": {"number_of_genes": 22, "number_of_strs": 2, "number_of_regions": 0}, "types": [{"name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K"}]}} +{"gene_data": {"alias": ["DMK", "DM1PK", "MDPK", "MT-PK"], "biotype": "protein_coding", "hgnc_id": "HGNC:2933", "gene_name": "DM1 protein kinase", "omim_gene": ["605377"], "alias_name": ["dystrophia myotonica 1", "DM protein kinase", "myotonin protein kinase A", "myotonic dystrophy associated protein kinase", "thymopoietin homolog"], "gene_symbol": "DMPK", "hgnc_symbol": "DMPK", "hgnc_release": "2017-11-03", "ensembl_genes": {"GRch37": {"82": {"location": "19:46272975-46285810", "ensembl_id": "ENSG00000104936"}}, "GRch38": {"90": {"location": "19:45769717-45782552", "ensembl_id": "ENSG00000104936"}}}, "hgnc_date_symbol_changed": "1997-10-10"}, "entity_type": "str", "entity_name": "DMPK_CTG", "confidence_level": "1", "penetrance": null, "publications": [], "evidence": ["NHS GMS", "Expert Review Red", "Expert list"], "phenotypes": ["Myotonic dystrophy 1, OMIM:160900"], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CTG", "chromosome": "19", "grch37_coordinates": [46273463, 46273522], "grch38_coordinates": [45770205, 45770264], "normal_repeats": 35, "pathogenic_repeats": 50, "tags": ["STR"], "panel": {"id": 144, "hash_id": "5763f4868f620350a199604f", "name": "Fetal hydrops", "disease_group": "Dysmorphic and congenital abnormality syndromes", "disease_sub_group": "Fetal disorders", "status": "public", "version": "1.61", "version_created": "2023-07-26T10:19:26.703341Z", "relevant_disorders": [], "stats": {"number_of_genes": 91, "number_of_strs": 1, "number_of_regions": 0}, "types": [{"name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K"}]}} +{"gene_data": {"alias": ["AIS", "NR3C4", "SMAX1", "HUMARA"], "biotype": "protein_coding", "hgnc_id": "HGNC:644", "gene_name": "androgen receptor", "omim_gene": ["313700"], "alias_name": ["testicular feminization", "Kennedy disease"], "gene_symbol": "AR", "hgnc_symbol": "AR", "hgnc_release": "2017-11-03", "ensembl_genes": {"GRch37": {"82": {"location": "X:66764465-66950461", "ensembl_id": "ENSG00000169083"}}, "GRch38": {"90": {"location": "X:67544032-67730619", "ensembl_id": "ENSG00000169083"}}}, "hgnc_date_symbol_changed": "1986-01-01"}, "entity_type": "str", "entity_name": "AR_CAG", "confidence_level": "3", "penetrance": null, "publications": [], "evidence": ["Expert Review Green", "NHS GMS", "Expert list"], "phenotypes": ["Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200"], "mode_of_inheritance": "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", "repeated_sequence": "CAG", "chromosome": "X", "grch37_coordinates": [66765160, 66765225], "grch38_coordinates": [67545316, 67545383], "normal_repeats": 35, "pathogenic_repeats": 38, "tags": ["STR"], "panel": {"id": 235, "hash_id": "55b7a0bb22c1fc05fd2345d1", "name": "Distal myopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "3.16", "version_created": "2023-10-25T21:25:56.162797Z", "relevant_disorders": [], "stats": {"number_of_genes": 31, "number_of_strs": 2, "number_of_regions": 0}, "types": [{"name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K"}, {"name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel"}, {"name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}} +{"gene_data": {"alias": ["RNF163", "ZCCHC22", "CNBP1"], "biotype": "protein_coding", "hgnc_id": "HGNC:13164", "gene_name": "CCHC-type zinc finger nucleic acid binding protein", "omim_gene": ["116955"], "alias_name": null, "gene_symbol": "CNBP", "hgnc_symbol": "CNBP", "hgnc_release": "2017-11-03", "ensembl_genes": {"GRch37": {"82": {"location": "3:128888327-128902765", "ensembl_id": "ENSG00000169714"}}, "GRch38": {"90": {"location": "3:129169484-129183922", "ensembl_id": "ENSG00000169714"}}}, "hgnc_date_symbol_changed": "2006-06-29"}, "entity_type": "str", "entity_name": "CNBP_CCTG", "confidence_level": "1", "penetrance": null, "publications": [], "evidence": ["NHS GMS", "Expert Review Red", "Expert list"], "phenotypes": ["Myotonic dystrophy 2, OMIM:602668", "Myotonic dystrophy type 2, MONDO:0011266"], "mode_of_inheritance": "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", "repeated_sequence": "CAGG", "chromosome": "3", "grch37_coordinates": [128891420, 128891499], "grch38_coordinates": [129172577, 129172656], "normal_repeats": 27, "pathogenic_repeats": 75, "tags": ["STR", "NGS Not Validated"], "panel": {"id": 235, "hash_id": "55b7a0bb22c1fc05fd2345d1", "name": "Distal myopathies", "disease_group": "Neurology and neurodevelopmental disorders", "disease_sub_group": "Neuromuscular disorders", "status": "public", "version": "3.16", "version_created": "2023-10-25T21:25:56.162797Z", "relevant_disorders": [], "stats": {"number_of_genes": 31, "number_of_strs": 2, "number_of_regions": 0}, "types": [{"name": "Rare Disease 100K", "slug": "rare-disease-100k", "description": "Rare Disease 100K"}, {"name": "Component Of Super Panel", "slug": "component-of-super-panel", "description": "This panel is a component of a Super Panel"}, {"name": "GMS signed-off", "slug": "gms-signed-off", "description": "This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS."}]}} From 81623d34e7128d067fea18746d5018a2ad15968e Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 09:39:59 +0100 Subject: [PATCH 05/10] wip --- src/genes/cli/data/panelapp/gene.rs | 12 +++++------- ...i__data__tests__deserialize_panelapp_record.snap} | 6 +++++- 2 files changed, 10 insertions(+), 8 deletions(-) rename src/genes/cli/data/snapshots/{annonars__genes__cli__data__tests__deserialize_panelapp_record.snap.new => annonars__genes__cli__data__tests__deserialize_panelapp_record.snap} (99%) diff --git a/src/genes/cli/data/panelapp/gene.rs b/src/genes/cli/data/panelapp/gene.rs index 86710d40..0ccc0cc6 100644 --- a/src/genes/cli/data/panelapp/gene.rs +++ b/src/genes/cli/data/panelapp/gene.rs @@ -38,9 +38,7 @@ pub struct Gene { #[serde(rename = "panel")] panel: Option, #[serde(rename = "transcript")] - #[serde(skip_serializing_if = "Vec::is_empty")] - #[serde(default)] - transcript: Vec, + transcript: Option>, } impl Gene { @@ -52,7 +50,7 @@ impl Gene { evidence: Vec, phenotypes: Vec, mode_of_inheritance: String, - transcript: Vec, + transcript: Option>, ) -> Gene { Gene { gene_data: None, @@ -247,16 +245,16 @@ impl Gene { self.panel = None; } - pub fn set_transcript(&mut self, transcript: Vec) { + pub fn set_transcript(&mut self, transcript: Option>) { self.transcript = transcript; } - pub fn with_transcript(mut self, transcript: Vec) -> Gene { + pub fn with_transcript(mut self, transcript: Option>) -> Gene { self.transcript = transcript; self } - pub fn transcript(&self) -> &Vec { + pub fn transcript(&self) -> &Option> { &self.transcript } } diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap.new b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap similarity index 99% rename from src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap.new rename to src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap index 6fb7234d..5624544e 100644 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap.new +++ b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap @@ -1,6 +1,5 @@ --- source: src/genes/cli/data/mod.rs -assertion_line: 2214 expression: records --- - gene_data: @@ -62,6 +61,7 @@ expression: records - name: Rare Disease 100K slug: rare-disease-100k description: Rare Disease 100K + transcript: ~ - gene_data: alias: - DMK @@ -125,6 +125,7 @@ expression: records - name: Rare Disease 100K slug: rare-disease-100k description: Rare Disease 100K + transcript: ~ - gene_data: alias: - DMK @@ -188,6 +189,7 @@ expression: records - name: Rare Disease 100K slug: rare-disease-100k description: Rare Disease 100K + transcript: ~ - gene_data: alias: - AIS @@ -254,6 +256,7 @@ expression: records - name: GMS signed-off slug: gms-signed-off description: This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS. + transcript: ~ - gene_data: alias: - RNF163 @@ -319,4 +322,5 @@ expression: records - name: GMS signed-off slug: gms-signed-off description: This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS. + transcript: ~ From 57e289c6ab4ee2dde0d5b4c20afe0038414906de Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 10:43:31 +0100 Subject: [PATCH 06/10] wip --- build.rs | 1 + protos/annonars/genes/base.proto | 4 + protos/annonars/panelapp/models.proto | 283 ++++++++++++++++++ src/genes/cli/data/mod.rs | 2 + src/genes/cli/data/panelapp/activity.rs | 2 +- src/genes/cli/data/panelapp/evaluation.rs | 2 +- src/genes/cli/data/panelapp/gene.rs | 2 +- .../cli/data/panelapp/historical_snapshot.rs | 2 +- .../cli/data/panelapp/inline_response_200.rs | 2 +- .../data/panelapp/inline_response_200_1.rs | 2 +- .../data/panelapp/inline_response_200_2.rs | 2 +- .../data/panelapp/inline_response_200_3.rs | 2 +- .../data/panelapp/inline_response_200_4.rs | 2 +- .../data/panelapp/inline_response_200_5.rs | 2 +- .../data/panelapp/inline_response_200_6.rs | 2 +- .../data/panelapp/inline_response_200_7.rs | 2 +- src/genes/cli/data/panelapp/panel.rs | 2 +- src/genes/cli/data/panelapp/panel_type.rs | 2 +- src/genes/cli/data/panelapp/region.rs | 2 +- src/genes/cli/data/panelapp/str.rs | 2 +- src/genes/cli/import.rs | 47 ++- src/pbs/mod.rs | 1 + src/pbs/panelapp.rs | 8 + 23 files changed, 361 insertions(+), 17 deletions(-) create mode 100644 protos/annonars/panelapp/models.proto create mode 100644 src/pbs/panelapp.rs diff --git a/build.rs b/build.rs index 1c30e607..9d1f7cdd 100644 --- a/build.rs +++ b/build.rs @@ -27,6 +27,7 @@ fn main() -> Result<(), anyhow::Error> { "annonars/gnomad/vep_gnomad4.proto", "annonars/helixmtdb/base.proto", "annonars/regions/clingen.proto", + "annonars/panelapp/models.proto", ] .iter() .map(|f| root.join(f)) diff --git a/protos/annonars/genes/base.proto b/protos/annonars/genes/base.proto index 373f5bdd..842d3184 100644 --- a/protos/annonars/genes/base.proto +++ b/protos/annonars/genes/base.proto @@ -2,6 +2,8 @@ syntax = "proto3"; package annonars.genes.base; +import "annonars/panelapp/models.proto"; + // Information from ACMG secondary findings list. message AcmgSecondaryFindingRecord { // The HGNC ID. @@ -842,4 +844,6 @@ message Record { DominoRecord domino = 12; // DECIPHER HI score. DecipherHiRecord decipher_hi = 13; + // GenomicsEngland PanelApp gene information. + repeated annonars.panelapp.Gene panelapp = 14; } diff --git a/protos/annonars/panelapp/models.proto b/protos/annonars/panelapp/models.proto new file mode 100644 index 00000000..49286250 --- /dev/null +++ b/protos/annonars/panelapp/models.proto @@ -0,0 +1,283 @@ +// Protobuf definition file generated by `openapi2proto`. +// +// The file was then post-edited to include a dummy value for enum values 0. +// +// Also, `GeneDataMessage` was partially completed. + +syntax = "proto3"; + +package annonars.panelapp; + +message Activity { + string created = 1; + string entity_name = 2; + string entity_type = 3; + string item_type = 4; + string panel_id = 5; + string panel_name = 6; + string panel_version = 7; + string text = 8; + string user_name = 9; +} + +message Evaluation { + enum EvaluationModeOfPathogenicity { + EVALUATION_MODE_OF_PATHOGENICITY = 0; + EVALUATION_MODE_OF_PATHOGENICITY_LOSS_OF_FUNCTION_VARIANTS_AS_DEFINED_IN_POP_UP_MESSAGE_DO_NOT_CAUSE_THIS_PHENOTYPE_PLEASE_PROVIDE_DETAILS_IN_THE_COMMENTS = 1; + EVALUATION_MODE_OF_PATHOGENICITY_OTHER = 2; + } + + enum EvaluationMoi { + EVALUATION_MOI = 0; + EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_NOT_IMPRINTED = 1; + EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_MATERNALLY_IMPRINTED_PATERNAL_ALLELE_EXPRESSED = 2; + EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_PATERNALLY_IMPRINTED_MATERNAL_ALLELE_EXPRESSED = 3; + EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_IMPRINTED_STATUS_UNKNOWN = 4; + EVALUATION_MOI_BIALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL = 5; + EVALUATION_MOI_BOTH_MONOALLELIC_AND_BIALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL = 6; + EVALUATION_MOI_BOTH_MONOALLELIC_AND_BIALLELIC_BUT_BIALLELIC_MUTATIONS_CAUSE_A_MORE_SEVERE_DISEASE_FORM_AUTOSOMAL_OR_PSEUDOAUTOSOMAL = 7; + EVALUATION_MOI_X_LINKED_HEMIZYGOUS_MUTATION_IN_MALES_BIALLELIC_MUTATIONS_IN_FEMALES = 8; + EVALUATION_MOI_X_LINKED_HEMIZYGOUS_MUTATION_IN_MALES_MONOALLELIC_MUTATIONS_IN_FEMALES_MAY_CAUSE_DISEASE_MAY_BE_LESS_SEVERE_LATER_ONSET_THAN_MALES = 9; + EVALUATION_MOI_MITOCHONDRIAL = 10; + EVALUATION_MOI_UNKNOWN = 11; + EVALUATION_MOI_OTHER = 12; + } + + enum EvaluationRating { + EVALUATION_RATING = 0; + EVALUATION_RATING_GREEN = 1; + EVALUATION_RATING_RED = 2; + EVALUATION_RATING_AMBER = 3; + } + + // Interruptions in the repeated sequence are reported as part of standard diagnostic practise + bool clinically_relevant = 1; + string created = 2; + bool current_diagnostic = 3; + EvaluationModeOfPathogenicity mode_of_pathogenicity = 4; + EvaluationMoi moi = 5; + repeated string phenotypes = 6; + repeated string publications = 7; + EvaluationRating rating = 8; +} + +message GeneDataMessage { + optional string hgnc_id = 1; + optional string gene_name = 2; + repeated string alias = 3; + optional string gene_symbol = 4; + optional string hgnc_symbol = 5; +} + +message Gene { + enum GeneModeOfPathogenicity { + GENE_MODE_OF_PATHOGENICITY = 0; + GENE_MODE_OF_PATHOGENICITY_LOSS_OF_FUNCTION_VARIANTS_AS_DEFINED_IN_POP_UP_MESSAGE_DO_NOT_CAUSE_THIS_PHENOTYPE_PLEASE_PROVIDE_DETAILS_IN_THE_COMMENTS = 1; + GENE_MODE_OF_PATHOGENICITY_OTHER = 2; + } + + enum GenePenetrance { + GENE_PENETRANCE = 0; + GENE_PENETRANCE_UNKNOWN = 1; + GENE_PENETRANCE_COMPLETE = 2; + GENE_PENETRANCE_INCOMPLETE = 3; + } + + string confidence_level = 1; + string entity_name = 2; + string entity_type = 3; + repeated string evidence = 4; + GeneDataMessage gene_data = 5; + string mode_of_inheritance = 6; + GeneModeOfPathogenicity mode_of_pathogenicity = 7; + Panel panel = 8; + GenePenetrance penetrance = 9; + repeated string phenotypes = 10; + repeated string publications = 11; + repeated string tags = 12; + repeated string transcript = 13; +} + +message HistoricalSnapshot { + message DataMessage {} + + DataMessage data = 1; + string signed_off_date = 2; +} + +message Panel { + message StatsMessage {} + + string disease_group = 1; + string disease_sub_group = 2; + string hash_id = 3; + int32 id = 4; + string name = 5; + repeated string relevant_disorders = 6; + + // Object with panel statistics (number of genes or STRs) + StatsMessage stats = 7; + string status = 8; + repeated PanelType types = 9; + string version = 10; + string version_created = 11; +} + +message PanelType { + string description = 1; + string name = 2; + string slug = 3; +} + +message Region { + enum RegionChromosome { + REGION_CHROMOSOME_UNKNOWN = 0; + REGION_CHROMOSOME_1 = 1; + REGION_CHROMOSOME_2 = 2; + REGION_CHROMOSOME_3 = 3; + REGION_CHROMOSOME_4 = 4; + REGION_CHROMOSOME_5 = 5; + REGION_CHROMOSOME_6 = 6; + REGION_CHROMOSOME_7 = 7; + REGION_CHROMOSOME_8 = 8; + REGION_CHROMOSOME_9 = 9; + REGION_CHROMOSOME_10 = 10; + REGION_CHROMOSOME_11 = 11; + REGION_CHROMOSOME_12 = 12; + REGION_CHROMOSOME_13 = 13; + REGION_CHROMOSOME_14 = 14; + REGION_CHROMOSOME_15 = 15; + REGION_CHROMOSOME_16 = 16; + REGION_CHROMOSOME_17 = 17; + REGION_CHROMOSOME_18 = 18; + REGION_CHROMOSOME_19 = 19; + REGION_CHROMOSOME_20 = 20; + REGION_CHROMOSOME_21 = 21; + REGION_CHROMOSOME_22 = 22; + REGION_CHROMOSOME_X = 23; + REGION_CHROMOSOME_Y = 24; + } + + enum RegionHaploinsufficiencyScore { + REGION_HAPLOINSUFFICIENCY_SCORE_UNKNOWN = 0; + REGION_HAPLOINSUFFICIENCY_SCORE_3 = 1; + REGION_HAPLOINSUFFICIENCY_SCORE_2 = 2; + REGION_HAPLOINSUFFICIENCY_SCORE_1 = 3; + REGION_HAPLOINSUFFICIENCY_SCORE_0 = 4; + REGION_HAPLOINSUFFICIENCY_SCORE_40 = 5; + REGION_HAPLOINSUFFICIENCY_SCORE_30 = 6; + } + + enum RegionModeOfPathogenicity { + REGION_MODE_OF_PATHOGENICITY_UNKNOWN = 0; + REGION_MODE_OF_PATHOGENICITY_LOSS_OF_FUNCTION_VARIANTS_AS_DEFINED_IN_POP_UP_MESSAGE_DO_NOT_CAUSE_THIS_PHENOTYPE_PLEASE_PROVIDE_DETAILS_IN_THE_COMMENTS = 1; + REGION_MODE_OF_PATHOGENICITY_OTHER = 2; + } + + enum RegionPenetrance { + REGION_PENETRANCE_UNKNOWN = 0; + REGION_PENETRANCE_COMPLETE = 1; + REGION_PENETRANCE_INCOMPLETE = 2; + } + + enum RegionTriplosensitivityScore { + REGION_TRIPLOSENSITIVITY_SCORE_UNKNOWN = 0; + REGION_TRIPLOSENSITIVITY_SCORE_3 = 1; + REGION_TRIPLOSENSITIVITY_SCORE_2 = 2; + REGION_TRIPLOSENSITIVITY_SCORE_1 = 3; + REGION_TRIPLOSENSITIVITY_SCORE_0 = 4; + REGION_TRIPLOSENSITIVITY_SCORE_40 = 5; + REGION_TRIPLOSENSITIVITY_SCORE_30 = 6; + } + + enum RegionTypeOfVariants { + REGION_TYPE_OF_VARIANTS_UNKNOWN = 0; + REGION_TYPE_OF_VARIANTS_SMALL = 1; + REGION_TYPE_OF_VARIANTS_CNV_LOSS = 2; + REGION_TYPE_OF_VARIANTS_CNV_GAIN = 3; + REGION_TYPE_OF_VARIANTS_CNV_BOTH = 4; + } + + RegionChromosome chromosome = 1; + string confidence_level = 2; + string entity_name = 3; + string entity_type = 4; + repeated string evidence = 5; + GeneDataMessage gene_data = 6; + repeated int32 grch37_coordinates = 7; + repeated int32 grch38_coordinates = 8; + RegionHaploinsufficiencyScore haploinsufficiency_score = 9; + string mode_of_inheritance = 10; + RegionModeOfPathogenicity mode_of_pathogenicity = 11; + Panel panel = 12; + RegionPenetrance penetrance = 13; + repeated string phenotypes = 14; + repeated string publications = 15; + + // Required percent of overlap + int32 required_overlap_percentage = 16; + repeated string tags = 17; + RegionTriplosensitivityScore triplosensitivity_score = 18; + RegionTypeOfVariants type_of_variants = 19; + + // Region Name + string verbose_name = 20; +} + +message STR { + enum STRChromosome { + STR_CHROMOSOME_UNKNOWN = 0; + STR_CHROMOSOME_1 = 1; + STR_CHROMOSOME_2 = 2; + STR_CHROMOSOME_3 = 3; + STR_CHROMOSOME_4 = 4; + STR_CHROMOSOME_5 = 5; + STR_CHROMOSOME_6 = 6; + STR_CHROMOSOME_7 = 7; + STR_CHROMOSOME_8 = 8; + STR_CHROMOSOME_9 = 9; + STR_CHROMOSOME_10 = 10; + STR_CHROMOSOME_11 = 11; + STR_CHROMOSOME_12 = 12; + STR_CHROMOSOME_13 = 13; + STR_CHROMOSOME_14 = 14; + STR_CHROMOSOME_15 = 15; + STR_CHROMOSOME_16 = 16; + STR_CHROMOSOME_17 = 17; + STR_CHROMOSOME_18 = 18; + STR_CHROMOSOME_19 = 19; + STR_CHROMOSOME_20 = 20; + STR_CHROMOSOME_21 = 21; + STR_CHROMOSOME_22 = 22; + STR_CHROMOSOME_X = 23; + STR_CHROMOSOME_Y = 24; + } + + enum STRPenetrance { + STR_PENETRANCE_UNKNOWN = 0; + STR_PENETRANCE_COMPLETE = 1; + STR_PENETRANCE_INCOMPLETE = 2; + } + + STRChromosome chromosome = 1; + string confidence_level = 2; + string entity_name = 3; + string entity_type = 4; + repeated string evidence = 5; + GeneDataMessage gene_data = 6; + repeated int32 grch37_coordinates = 7; + repeated int32 grch38_coordinates = 8; + string mode_of_inheritance = 9; + + // =< Maximum normal number of repeats + int32 normal_repeats = 10; + Panel panel = 11; + + // >= Minimum fully penetrant pathogenic number of repeats + int32 pathogenic_repeats = 12; + STRPenetrance penetrance = 13; + repeated string phenotypes = 14; + repeated string publications = 15; + string repeated_sequence = 16; + repeated string tags = 17; +} diff --git a/src/genes/cli/data/mod.rs b/src/genes/cli/data/mod.rs index aa289816..1a8329d5 100644 --- a/src/genes/cli/data/mod.rs +++ b/src/genes/cli/data/mod.rs @@ -28,6 +28,8 @@ pub struct Record { pub omim: Option, /// Information about ORPHA diseases for a gene. pub orpha: Option, + /// Information about PanelApp entries for a gene. + pub panelapp: Vec, /// Information from rCNV (Collins et al., 2022). pub rcnv: Option, /// Information from sHet (Weghorn et al., 2019). diff --git a/src/genes/cli/data/panelapp/activity.rs b/src/genes/cli/data/panelapp/activity.rs index 03b92983..a109769f 100644 --- a/src/genes/cli/data/panelapp/activity.rs +++ b/src/genes/cli/data/panelapp/activity.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct Activity { #[serde(rename = "created")] created: Option, diff --git a/src/genes/cli/data/panelapp/evaluation.rs b/src/genes/cli/data/panelapp/evaluation.rs index 077ac90e..ec0eb1e2 100644 --- a/src/genes/cli/data/panelapp/evaluation.rs +++ b/src/genes/cli/data/panelapp/evaluation.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct Evaluation { #[serde(rename = "created")] created: Option, diff --git a/src/genes/cli/data/panelapp/gene.rs b/src/genes/cli/data/panelapp/gene.rs index 0ccc0cc6..2a226e29 100644 --- a/src/genes/cli/data/panelapp/gene.rs +++ b/src/genes/cli/data/panelapp/gene.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct Gene { #[serde(rename = "gene_data")] gene_data: Option, diff --git a/src/genes/cli/data/panelapp/historical_snapshot.rs b/src/genes/cli/data/panelapp/historical_snapshot.rs index 4bab7d9b..98e7b5b4 100644 --- a/src/genes/cli/data/panelapp/historical_snapshot.rs +++ b/src/genes/cli/data/panelapp/historical_snapshot.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct HistoricalSnapshot { #[serde(rename = "data")] data: Value, diff --git a/src/genes/cli/data/panelapp/inline_response_200.rs b/src/genes/cli/data/panelapp/inline_response_200.rs index 6a5a5a67..7f649b12 100644 --- a/src/genes/cli/data/panelapp/inline_response_200.rs +++ b/src/genes/cli/data/panelapp/inline_response_200.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct InlineResponse200 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/inline_response_200_1.rs b/src/genes/cli/data/panelapp/inline_response_200_1.rs index dc98f029..8c3d2239 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_1.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_1.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2001 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/inline_response_200_2.rs b/src/genes/cli/data/panelapp/inline_response_200_2.rs index 723f31f2..a2a0eb13 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_2.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_2.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2002 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/inline_response_200_3.rs b/src/genes/cli/data/panelapp/inline_response_200_3.rs index e0b86a92..7964af93 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_3.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_3.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2003 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/inline_response_200_4.rs b/src/genes/cli/data/panelapp/inline_response_200_4.rs index 3ee1b22c..931687f5 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_4.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_4.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2004 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/inline_response_200_5.rs b/src/genes/cli/data/panelapp/inline_response_200_5.rs index d31405a9..5671cbb7 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_5.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_5.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2005 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/inline_response_200_6.rs b/src/genes/cli/data/panelapp/inline_response_200_6.rs index ce52f74c..575e9686 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_6.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_6.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2006 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/inline_response_200_7.rs b/src/genes/cli/data/panelapp/inline_response_200_7.rs index b2ab96f2..55ff0f86 100644 --- a/src/genes/cli/data/panelapp/inline_response_200_7.rs +++ b/src/genes/cli/data/panelapp/inline_response_200_7.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct InlineResponse2007 { #[serde(rename = "count")] count: i32, diff --git a/src/genes/cli/data/panelapp/panel.rs b/src/genes/cli/data/panelapp/panel.rs index b45511d0..a1085655 100644 --- a/src/genes/cli/data/panelapp/panel.rs +++ b/src/genes/cli/data/panelapp/panel.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct Panel { #[serde(rename = "id")] id: i32, diff --git a/src/genes/cli/data/panelapp/panel_type.rs b/src/genes/cli/data/panelapp/panel_type.rs index 2bc6ebaa..697b77e6 100644 --- a/src/genes/cli/data/panelapp/panel_type.rs +++ b/src/genes/cli/data/panelapp/panel_type.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct PanelType { #[serde(rename = "name")] name: String, diff --git a/src/genes/cli/data/panelapp/region.rs b/src/genes/cli/data/panelapp/region.rs index 596fbdea..c4b8f7fc 100644 --- a/src/genes/cli/data/panelapp/region.rs +++ b/src/genes/cli/data/panelapp/region.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct Region { #[serde(rename = "gene_data")] gene_data: Option, diff --git a/src/genes/cli/data/panelapp/str.rs b/src/genes/cli/data/panelapp/str.rs index 8eda65c5..5020ba7d 100644 --- a/src/genes/cli/data/panelapp/str.rs +++ b/src/genes/cli/data/panelapp/str.rs @@ -11,7 +11,7 @@ #[allow(unused_imports)] use serde_json::Value; -#[derive(Debug, serde::Serialize, serde::Deserialize)] +#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] pub struct Str { #[serde(rename = "gene_data")] gene_data: Option, diff --git a/src/genes/cli/import.rs b/src/genes/cli/import.rs index fb94c2c0..b82d59f7 100644 --- a/src/genes/cli/import.rs +++ b/src/genes/cli/import.rs @@ -18,7 +18,7 @@ use crate::{ use super::data::{ self, acmg_sf, clingen_gene, dbnsfp_gene, decipher_hi, domino, gnomad_constraints, gtex, hgnc, - ncbi, omim, orpha, rcnv, shet, + ncbi, omim, orpha, panelapp, rcnv, shet, }; /// Command line arguments for `genes import` sub command. @@ -52,6 +52,9 @@ pub struct Args { /// Path to the TSV file with ORPHA disease information. #[arg(long, required = true)] pub path_in_orpha: String, + /// Path to the JSONL file with PanelApp disease information. + #[arg(long, required = true)] + pub path_in_panelapp: String, /// Path to the TSV file with rCNV information. #[arg(long, required = true)] pub path_in_rcnv: String, @@ -322,6 +325,33 @@ fn load_orpha(path: &str) -> Result, anyhow::Erro Ok(result) } +/// Load PanelApp gene mapping. +/// +/// # Result +/// +/// A map from HGNC ID to PanelApp gene record. +fn load_panelapp(path: &str) -> Result>, anyhow::Error> { + info!(" loading PanelApp information from {}", path); + let mut result: HashMap> = HashMap::new(); + + let reader = std::fs::File::open(path).map(std::io::BufReader::new)?; + for line in reader.lines() { + let line = line?; + let record = serde_json::from_str::(&line)?; + if let Some(gene_data) = record.gene_data() { + if let Some(gene_data) = gene_data.as_object() { + if let Some(Some(hgnc_id)) = + gene_data.get("hgnc_id").map(|hgnc_id| hgnc_id.as_str()) + { + result.entry(hgnc_id.to_string()).or_default().push(record); + } + } + } + } + + Ok(result) +} + /// Load rCNV (Collins et al., 2022) information. /// /// # Result @@ -419,6 +449,7 @@ fn convert_record(record: data::Record) -> pbs::genes::base::Record { ncbi, omim, orpha, + panelapp, rcnv, shet, gtex, @@ -936,6 +967,11 @@ fn convert_record(record: data::Record) -> pbs::genes::base::Record { } }); + let panelapp = panelapp + .into_iter() + .map(|panelapp| todo!()) + .collect::>(); + let rcnv = rcnv.map(|rcnv| { let rcnv::Record { hgnc_id, @@ -1004,6 +1040,7 @@ fn convert_record(record: data::Record) -> pbs::genes::base::Record { shet, gtex, domino, + panelapp, decipher_hi, } } @@ -1020,6 +1057,7 @@ fn write_rocksdb( ncbi_by_ncbi_id: HashMap, omim_by_hgnc_id: HashMap, orpha_by_hgnc_id: HashMap, + panelapp_by_hgnc_id: HashMap>, rcnv_by_hgnc_id: HashMap, shet_by_hgnc_id: HashMap, gtex_by_hgnc_id: HashMap, @@ -1064,6 +1102,10 @@ fn write_rocksdb( hgnc: hgnc_record.clone(), omim: omim_by_hgnc_id.get(&hgnc_id).cloned(), orpha: orpha_by_hgnc_id.get(&hgnc_id).cloned(), + panelapp: panelapp_by_hgnc_id + .get(&hgnc_id) + .cloned() + .unwrap_or_default(), ncbi: hgnc_record .entrez_id .as_ref() @@ -1103,6 +1145,7 @@ pub fn run(common_args: &common::cli::Args, args: &Args) -> Result<(), anyhow::E let ncbi_by_ncbi_id = load_ncbi(&args.path_in_ncbi)?; let omim_by_hgnc_id = load_omim(&args.path_in_omim)?; let orpha_by_hgnc_id = load_orpha(&args.path_in_orpha)?; + let panelapp_by_hgnc_id = load_panelapp(&args.path_in_panelapp)?; let rcnv_by_hgnc_id = load_rcnv(&args.path_in_rcnv)?; let shet_by_hgnc_id = load_shet(&args.path_in_shet)?; let gtex_by_hgnc_id = load_gtex(&args.path_in_gtex)?; @@ -1125,6 +1168,7 @@ pub fn run(common_args: &common::cli::Args, args: &Args) -> Result<(), anyhow::E ncbi_by_ncbi_id, omim_by_hgnc_id, orpha_by_hgnc_id, + panelapp_by_hgnc_id, rcnv_by_hgnc_id, shet_by_hgnc_id, gtex_by_hgnc_id, @@ -1172,6 +1216,7 @@ pub mod test { path_in_ncbi: String::from("tests/genes/ncbi/gene_info.jsonl"), path_in_omim: String::from("tests/genes/omim/omim_diseases.tsv"), path_in_orpha: String::from("tests/genes/orphanet/orphanet_diseases.tsv"), + path_in_panelapp: String::from("tests/genes/panelapp/panelapp.jsonl"), path_in_rcnv: String::from("tests/genes/rcnv/rcnv.tsv"), path_in_shet: String::from("tests/genes/shet/shet.tsv"), path_in_gtex: String::from("tests/genes/gtex/genes_tpm.jsonl"), diff --git a/src/pbs/mod.rs b/src/pbs/mod.rs index fbe92a71..53beb836 100644 --- a/src/pbs/mod.rs +++ b/src/pbs/mod.rs @@ -7,4 +7,5 @@ pub mod functional; pub mod genes; pub mod gnomad; pub mod helixmtdb; +pub mod panelapp; pub mod regions; diff --git a/src/pbs/panelapp.rs b/src/pbs/panelapp.rs new file mode 100644 index 00000000..5a800347 --- /dev/null +++ b/src/pbs/panelapp.rs @@ -0,0 +1,8 @@ +#![allow(missing_docs)] +//! Code generate for protobufs by `prost-build`. + +include!(concat!(env!("OUT_DIR"), "/annonars.panelapp.models.rs")); +include!(concat!( + env!("OUT_DIR"), + "/annonars.panelapp.models.serde.rs" +)); From 79a27a630b3c4617e848c8ca576d03dd575c2dbf Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 11:35:01 +0100 Subject: [PATCH 07/10] wip --- protos/annonars/panelapp/models.proto | 71 +- src/genes/cli/{data/mod.rs => data.rs} | 152 +- src/genes/cli/data/panelapp/activity.rs | 199 - src/genes/cli/data/panelapp/evaluation.rs | 184 - src/genes/cli/data/panelapp/gene.rs | 260 - .../cli/data/panelapp/historical_snapshot.rs | 59 - .../cli/data/panelapp/inline_response_200.rs | 101 - .../data/panelapp/inline_response_200_1.rs | 95 - .../data/panelapp/inline_response_200_2.rs | 101 - .../data/panelapp/inline_response_200_3.rs | 101 - .../data/panelapp/inline_response_200_4.rs | 104 - .../data/panelapp/inline_response_200_5.rs | 101 - .../data/panelapp/inline_response_200_6.rs | 101 - .../data/panelapp/inline_response_200_7.rs | 101 - src/genes/cli/data/panelapp/mod.rs | 42 - src/genes/cli/data/panelapp/panel.rs | 236 - src/genes/cli/data/panelapp/panel_type.rs | 75 - src/genes/cli/data/panelapp/region.rs | 393 - src/genes/cli/data/panelapp/str.rs | 327 - ...ta__tests__deserialize_acmg_sf_record.snap | 16189 --------- ...ta__tests__deserialize_clingen_record.snap | 355 - ...ata__tests__deserialize_dbnsfp_record.snap | 302 - ...tests__deserialize_decipher_hi_record.snap | 85 - ...ata__tests__deserialize_domino_record.snap | 43 - ...s__deserialize_gnomad_constraints@2.1.snap | 80 - ...s__deserialize_gnomad_constraints@4.0.snap | 194 - ..._data__tests__deserialize_gtex_record.snap | 27909 ---------------- ..._data__tests__deserialize_hgnc_record.snap | 154 - ..._data__tests__deserialize_ncbi_record.snap | 38 - ..._data__tests__deserialize_omim_record.snap | 32 - ..._data__tests__deserialize_rcnv_record.snap | 302 - ..._data__tests__deserialize_shet_record.snap | 203 - src/genes/cli/import.rs | 26 +- ...a__tests__deserialize_panelapp_record.snap | 159 +- src/pbs/panelapp.rs | 7 +- 35 files changed, 189 insertions(+), 48692 deletions(-) rename src/genes/cli/{data/mod.rs => data.rs} (95%) delete mode 100644 src/genes/cli/data/panelapp/activity.rs delete mode 100644 src/genes/cli/data/panelapp/evaluation.rs delete mode 100644 src/genes/cli/data/panelapp/gene.rs delete mode 100644 src/genes/cli/data/panelapp/historical_snapshot.rs delete mode 100644 src/genes/cli/data/panelapp/inline_response_200.rs delete mode 100644 src/genes/cli/data/panelapp/inline_response_200_1.rs delete mode 100644 src/genes/cli/data/panelapp/inline_response_200_2.rs delete mode 100644 src/genes/cli/data/panelapp/inline_response_200_3.rs delete mode 100644 src/genes/cli/data/panelapp/inline_response_200_4.rs delete mode 100644 src/genes/cli/data/panelapp/inline_response_200_5.rs delete mode 100644 src/genes/cli/data/panelapp/inline_response_200_6.rs delete mode 100644 src/genes/cli/data/panelapp/inline_response_200_7.rs delete mode 100644 src/genes/cli/data/panelapp/mod.rs delete mode 100644 src/genes/cli/data/panelapp/panel.rs delete mode 100644 src/genes/cli/data/panelapp/panel_type.rs delete mode 100644 src/genes/cli/data/panelapp/region.rs delete mode 100644 src/genes/cli/data/panelapp/str.rs delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap delete mode 100644 src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap rename src/genes/cli/{data => }/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap (59%) diff --git a/protos/annonars/panelapp/models.proto b/protos/annonars/panelapp/models.proto index 49286250..7f35e2a5 100644 --- a/protos/annonars/panelapp/models.proto +++ b/protos/annonars/panelapp/models.proto @@ -2,7 +2,7 @@ // // The file was then post-edited to include a dummy value for enum values 0. // -// Also, `GeneDataMessage` was partially completed. +// Also, `GeneData` was partially completed. syntax = "proto3"; @@ -20,13 +20,13 @@ message Activity { string user_name = 9; } -message Evaluation { - enum EvaluationModeOfPathogenicity { - EVALUATION_MODE_OF_PATHOGENICITY = 0; - EVALUATION_MODE_OF_PATHOGENICITY_LOSS_OF_FUNCTION_VARIANTS_AS_DEFINED_IN_POP_UP_MESSAGE_DO_NOT_CAUSE_THIS_PHENOTYPE_PLEASE_PROVIDE_DETAILS_IN_THE_COMMENTS = 1; - EVALUATION_MODE_OF_PATHOGENICITY_OTHER = 2; - } +enum ModeOfPathogenicity { + MODE_OF_PATHOGENICITY = 0; + MODE_OF_PATHOGENICITY_SEE_COMMENTS_FOR_LOF = 1; + MODE_OF_PATHOGENICITY_OTHER = 2; +} +message Evaluation { enum EvaluationMoi { EVALUATION_MOI = 0; EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_NOT_IMPRINTED = 1; @@ -54,14 +54,14 @@ message Evaluation { bool clinically_relevant = 1; string created = 2; bool current_diagnostic = 3; - EvaluationModeOfPathogenicity mode_of_pathogenicity = 4; + ModeOfPathogenicity mode_of_pathogenicity = 4; EvaluationMoi moi = 5; repeated string phenotypes = 6; repeated string publications = 7; EvaluationRating rating = 8; } -message GeneDataMessage { +message GeneData { optional string hgnc_id = 1; optional string gene_name = 2; repeated string alias = 3; @@ -69,29 +69,22 @@ message GeneDataMessage { optional string hgnc_symbol = 5; } -message Gene { - enum GeneModeOfPathogenicity { - GENE_MODE_OF_PATHOGENICITY = 0; - GENE_MODE_OF_PATHOGENICITY_LOSS_OF_FUNCTION_VARIANTS_AS_DEFINED_IN_POP_UP_MESSAGE_DO_NOT_CAUSE_THIS_PHENOTYPE_PLEASE_PROVIDE_DETAILS_IN_THE_COMMENTS = 1; - GENE_MODE_OF_PATHOGENICITY_OTHER = 2; - } - - enum GenePenetrance { - GENE_PENETRANCE = 0; - GENE_PENETRANCE_UNKNOWN = 1; - GENE_PENETRANCE_COMPLETE = 2; - GENE_PENETRANCE_INCOMPLETE = 3; - } +enum Penetrance { + PENETRANCE_UNKNOWN = 0; + PENETRANCE_COMPLETE = 1; + PENETRANCE_INCOMPLETE = 2; +} +message Gene { string confidence_level = 1; string entity_name = 2; string entity_type = 3; repeated string evidence = 4; - GeneDataMessage gene_data = 5; + GeneData gene_data = 5; string mode_of_inheritance = 6; - GeneModeOfPathogenicity mode_of_pathogenicity = 7; + ModeOfPathogenicity mode_of_pathogenicity = 7; Panel panel = 8; - GenePenetrance penetrance = 9; + Penetrance penetrance = 9; repeated string phenotypes = 10; repeated string publications = 11; repeated string tags = 12; @@ -168,18 +161,6 @@ message Region { REGION_HAPLOINSUFFICIENCY_SCORE_30 = 6; } - enum RegionModeOfPathogenicity { - REGION_MODE_OF_PATHOGENICITY_UNKNOWN = 0; - REGION_MODE_OF_PATHOGENICITY_LOSS_OF_FUNCTION_VARIANTS_AS_DEFINED_IN_POP_UP_MESSAGE_DO_NOT_CAUSE_THIS_PHENOTYPE_PLEASE_PROVIDE_DETAILS_IN_THE_COMMENTS = 1; - REGION_MODE_OF_PATHOGENICITY_OTHER = 2; - } - - enum RegionPenetrance { - REGION_PENETRANCE_UNKNOWN = 0; - REGION_PENETRANCE_COMPLETE = 1; - REGION_PENETRANCE_INCOMPLETE = 2; - } - enum RegionTriplosensitivityScore { REGION_TRIPLOSENSITIVITY_SCORE_UNKNOWN = 0; REGION_TRIPLOSENSITIVITY_SCORE_3 = 1; @@ -203,14 +184,14 @@ message Region { string entity_name = 3; string entity_type = 4; repeated string evidence = 5; - GeneDataMessage gene_data = 6; + GeneData gene_data = 6; repeated int32 grch37_coordinates = 7; repeated int32 grch38_coordinates = 8; RegionHaploinsufficiencyScore haploinsufficiency_score = 9; string mode_of_inheritance = 10; - RegionModeOfPathogenicity mode_of_pathogenicity = 11; + ModeOfPathogenicity mode_of_pathogenicity = 11; Panel panel = 12; - RegionPenetrance penetrance = 13; + Penetrance penetrance = 13; repeated string phenotypes = 14; repeated string publications = 15; @@ -253,18 +234,12 @@ message STR { STR_CHROMOSOME_Y = 24; } - enum STRPenetrance { - STR_PENETRANCE_UNKNOWN = 0; - STR_PENETRANCE_COMPLETE = 1; - STR_PENETRANCE_INCOMPLETE = 2; - } - STRChromosome chromosome = 1; string confidence_level = 2; string entity_name = 3; string entity_type = 4; repeated string evidence = 5; - GeneDataMessage gene_data = 6; + GeneData gene_data = 6; repeated int32 grch37_coordinates = 7; repeated int32 grch38_coordinates = 8; string mode_of_inheritance = 9; @@ -275,7 +250,7 @@ message STR { // >= Minimum fully penetrant pathogenic number of repeats int32 pathogenic_repeats = 12; - STRPenetrance penetrance = 13; + Penetrance penetrance = 13; repeated string phenotypes = 14; repeated string publications = 15; string repeated_sequence = 16; diff --git a/src/genes/cli/data/mod.rs b/src/genes/cli/data.rs similarity index 95% rename from src/genes/cli/data/mod.rs rename to src/genes/cli/data.rs index 1a8329d5..1444f983 100644 --- a/src/genes/cli/data/mod.rs +++ b/src/genes/cli/data.rs @@ -1,7 +1,5 @@ //! Code for loading gene-related data from the TSV. -pub mod panelapp; - use serde::{Deserialize, Serialize}; /// Entry in the genes RocksDB database. @@ -29,7 +27,7 @@ pub struct Record { /// Information about ORPHA diseases for a gene. pub orpha: Option, /// Information about PanelApp entries for a gene. - pub panelapp: Vec, + pub panelapp: Vec, /// Information from rCNV (Collins et al., 2022). pub rcnv: Option, /// Information from sHet (Weghorn et al., 2019). @@ -1583,6 +1581,152 @@ pub mod omim { } } +/// Code for reading relevant parts of the PanelApp gene data. +pub mod panelapp { + use serde::{Deserialize, Serialize}; + + /// Gene identity information. + /// + /// We only keep the minimal information as we already have everything in HGNC. + #[derive(Debug, Clone, Serialize, Deserialize)] + pub struct GeneData { + /// HGNC gene ID. + pub hgnc_id: String, + /// HGNC gene symbol. + pub hgnc_symbol: String, + } + + /// Enumeration for entity types. + #[derive(Debug, Clone, Copy, PartialEq, Eq, PartialOrd, Ord, Hash, Serialize, Deserialize)] + pub enum EntityType { + /// Gene + #[serde(rename = "gene")] + Gene, + /// Short Tandem Repeat + #[serde(rename = "str")] + Str, + /// Region + #[serde(rename = "region")] + Region, + } + + /// Enumeration for confidence levels. + #[derive(Debug, Clone, Copy, PartialEq, Eq, PartialOrd, Ord, Hash, Serialize, Deserialize)] + pub enum ConfidenceLevel { + /// 0 - lowest level, when expert review was removed + #[serde(rename = "0")] + None, + /// 1 - red, low evidence + #[serde(rename = "1")] + Red, + /// 2 - amber, moderate evidence + #[serde(rename = "2")] + Amber, + /// 3 - green, high evidence + #[serde(rename = "3")] + Green, + } + + /// Enumeration for penetrance. + #[derive( + Default, Debug, Clone, Copy, PartialEq, Eq, PartialOrd, Ord, Hash, Serialize, Deserialize, + )] + pub enum Penetrance { + /// Penetrance is unknown. + #[default] + #[serde(rename = "unknown")] + Unknown, + /// Complete penetrance. + #[serde(rename = "Complete")] + Complete, + /// Incomplete penetrance. + #[serde(rename = "Incomplete")] + Incomplete, + } + + /// Panel statistics. + #[derive(Debug, Clone, Serialize, Deserialize)] + pub struct PanelStats { + /// Number of genes. + pub number_of_genes: u32, + /// Number of STRs. + pub number_of_strs: u32, + /// Number of regions. + pub number_of_regions: u32, + } + + /// Panel type. + #[derive(Debug, Clone, Serialize, Deserialize)] + pub struct PanelType { + /// Panel type ID. + pub name: String, + /// Panel type slug. + pub slug: String, + /// Panel type description. + pub description: String, + } + + /// Representation of a panel. + #[derive(Debug, Clone, Serialize, Deserialize)] + pub struct Panel { + /// Panel ID. + pub id: u32, + /// Panel hash ID. + pub hash_id: String, + /// The panel name. + pub name: String, + /// The disease group. + pub disease_group: String, + /// The disease sub group. + pub disease_sub_group: String, + /// The panel version. + pub version: String, + /// The panel version created. + pub version_created: String, + /// The panel relevant disorders. + pub relevant_disorders: Vec, + /// The panel stats. + pub stats: PanelStats, + /// The panel types. + pub types: Vec, + } + + /// Representation of one gene record. + #[derive(Debug, Clone, Serialize, Deserialize)] + pub struct Record { + /// Gene identity information. + pub gene_data: Option, + /// Entity type. + pub entity_type: EntityType, + /// Entity name. + pub entity_name: String, + /// Confidence level. + pub confidence_level: ConfidenceLevel, + /// Penetrance. + #[serde(deserialize_with = "deserialize_null_default")] + pub penetrance: Penetrance, + /// Publications. + pub publications: Vec, + /// Evidence. + pub evidence: Vec, + /// Phenotypes. + pub phenotypes: Vec, + /// Mode of inheritance. + pub mode_of_inheritance: String, + /// Information about the panel of this assessment. + pub panel: Panel, + } + + fn deserialize_null_default<'de, D, T>(deserializer: D) -> Result + where + T: Default + Deserialize<'de>, + D: serde::Deserializer<'de>, + { + let opt = Option::deserialize(deserializer)?; + Ok(opt.unwrap_or_default()) + } +} + /// Code for reading gene to ORPHA disease associations. pub mod orpha { use serde::{Deserialize, Serialize}; @@ -2210,7 +2354,7 @@ mod tests { let str_jsonl = std::fs::read_to_string(path_jsonl)?; let records = str_jsonl .lines() - .map(|s| serde_json::from_str::(s).unwrap()) + .map(|s| serde_json::from_str::(s).unwrap()) .collect::>(); insta::assert_yaml_snapshot!(records); diff --git a/src/genes/cli/data/panelapp/activity.rs b/src/genes/cli/data/panelapp/activity.rs deleted file mode 100644 index a109769f..00000000 --- a/src/genes/cli/data/panelapp/activity.rs +++ /dev/null @@ -1,199 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct Activity { - #[serde(rename = "created")] - created: Option, - #[serde(rename = "panel_name")] - panel_name: Option, - #[serde(rename = "panel_id")] - panel_id: Option, - #[serde(rename = "panel_version")] - panel_version: Option, - #[serde(rename = "user_name")] - user_name: Option, - #[serde(rename = "item_type")] - item_type: Option, - #[serde(rename = "text")] - text: String, - #[serde(rename = "entity_name")] - entity_name: Option, - #[serde(rename = "entity_type")] - entity_type: Option, -} - -impl Activity { - pub fn new(text: String) -> Activity { - Activity { - created: None, - panel_name: None, - panel_id: None, - panel_version: None, - user_name: None, - item_type: None, - text, - entity_name: None, - entity_type: None, - } - } - - pub fn set_created(&mut self, created: String) { - self.created = Some(created); - } - - pub fn with_created(mut self, created: String) -> Activity { - self.created = Some(created); - self - } - - pub fn created(&self) -> Option<&String> { - self.created.as_ref() - } - - pub fn reset_created(&mut self) { - self.created = None; - } - - pub fn set_panel_name(&mut self, panel_name: String) { - self.panel_name = Some(panel_name); - } - - pub fn with_panel_name(mut self, panel_name: String) -> Activity { - self.panel_name = Some(panel_name); - self - } - - pub fn panel_name(&self) -> Option<&String> { - self.panel_name.as_ref() - } - - pub fn reset_panel_name(&mut self) { - self.panel_name = None; - } - - pub fn set_panel_id(&mut self, panel_id: String) { - self.panel_id = Some(panel_id); - } - - pub fn with_panel_id(mut self, panel_id: String) -> Activity { - self.panel_id = Some(panel_id); - self - } - - pub fn panel_id(&self) -> Option<&String> { - self.panel_id.as_ref() - } - - pub fn reset_panel_id(&mut self) { - self.panel_id = None; - } - - pub fn set_panel_version(&mut self, panel_version: String) { - self.panel_version = Some(panel_version); - } - - pub fn with_panel_version(mut self, panel_version: String) -> Activity { - self.panel_version = Some(panel_version); - self - } - - pub fn panel_version(&self) -> Option<&String> { - self.panel_version.as_ref() - } - - pub fn reset_panel_version(&mut self) { - self.panel_version = None; - } - - pub fn set_user_name(&mut self, user_name: String) { - self.user_name = Some(user_name); - } - - pub fn with_user_name(mut self, user_name: String) -> Activity { - self.user_name = Some(user_name); - self - } - - pub fn user_name(&self) -> Option<&String> { - self.user_name.as_ref() - } - - pub fn reset_user_name(&mut self) { - self.user_name = None; - } - - pub fn set_item_type(&mut self, item_type: String) { - self.item_type = Some(item_type); - } - - pub fn with_item_type(mut self, item_type: String) -> Activity { - self.item_type = Some(item_type); - self - } - - pub fn item_type(&self) -> Option<&String> { - self.item_type.as_ref() - } - - pub fn reset_item_type(&mut self) { - self.item_type = None; - } - - pub fn set_text(&mut self, text: String) { - self.text = text; - } - - pub fn with_text(mut self, text: String) -> Activity { - self.text = text; - self - } - - pub fn text(&self) -> &String { - &self.text - } - - pub fn set_entity_name(&mut self, entity_name: String) { - self.entity_name = Some(entity_name); - } - - pub fn with_entity_name(mut self, entity_name: String) -> Activity { - self.entity_name = Some(entity_name); - self - } - - pub fn entity_name(&self) -> Option<&String> { - self.entity_name.as_ref() - } - - pub fn reset_entity_name(&mut self) { - self.entity_name = None; - } - - pub fn set_entity_type(&mut self, entity_type: String) { - self.entity_type = Some(entity_type); - } - - pub fn with_entity_type(mut self, entity_type: String) -> Activity { - self.entity_type = Some(entity_type); - self - } - - pub fn entity_type(&self) -> Option<&String> { - self.entity_type.as_ref() - } - - pub fn reset_entity_type(&mut self) { - self.entity_type = None; - } -} diff --git a/src/genes/cli/data/panelapp/evaluation.rs b/src/genes/cli/data/panelapp/evaluation.rs deleted file mode 100644 index ec0eb1e2..00000000 --- a/src/genes/cli/data/panelapp/evaluation.rs +++ /dev/null @@ -1,184 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct Evaluation { - #[serde(rename = "created")] - created: Option, - #[serde(rename = "rating")] - rating: Option, - #[serde(rename = "mode_of_pathogenicity")] - mode_of_pathogenicity: Option, - #[serde(rename = "publications")] - publications: Option>, - #[serde(rename = "phenotypes")] - phenotypes: Option>, - #[serde(rename = "moi")] - moi: Option, - #[serde(rename = "current_diagnostic")] - current_diagnostic: Option, - /// Interruptions in the repeated sequence are reported as part of standard diagnostic practise - #[serde(rename = "clinically_relevant")] - clinically_relevant: Option, -} - -impl Evaluation { - pub fn new() -> Evaluation { - Evaluation { - created: None, - rating: None, - mode_of_pathogenicity: None, - publications: None, - phenotypes: None, - moi: None, - current_diagnostic: None, - clinically_relevant: None, - } - } - - pub fn set_created(&mut self, created: String) { - self.created = Some(created); - } - - pub fn with_created(mut self, created: String) -> Evaluation { - self.created = Some(created); - self - } - - pub fn created(&self) -> Option<&String> { - self.created.as_ref() - } - - pub fn reset_created(&mut self) { - self.created = None; - } - - pub fn set_rating(&mut self, rating: String) { - self.rating = Some(rating); - } - - pub fn with_rating(mut self, rating: String) -> Evaluation { - self.rating = Some(rating); - self - } - - pub fn rating(&self) -> Option<&String> { - self.rating.as_ref() - } - - pub fn reset_rating(&mut self) { - self.rating = None; - } - - pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - } - - pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Evaluation { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - self - } - - pub fn mode_of_pathogenicity(&self) -> Option<&String> { - self.mode_of_pathogenicity.as_ref() - } - - pub fn reset_mode_of_pathogenicity(&mut self) { - self.mode_of_pathogenicity = None; - } - - pub fn set_publications(&mut self, publications: Vec) { - self.publications = Some(publications); - } - - pub fn with_publications(mut self, publications: Vec) -> Evaluation { - self.publications = Some(publications); - self - } - - pub fn publications(&self) -> Option<&Vec> { - self.publications.as_ref() - } - - pub fn reset_publications(&mut self) { - self.publications = None; - } - - pub fn set_phenotypes(&mut self, phenotypes: Vec) { - self.phenotypes = Some(phenotypes); - } - - pub fn with_phenotypes(mut self, phenotypes: Vec) -> Evaluation { - self.phenotypes = Some(phenotypes); - self - } - - pub fn phenotypes(&self) -> Option<&Vec> { - self.phenotypes.as_ref() - } - - pub fn reset_phenotypes(&mut self) { - self.phenotypes = None; - } - - pub fn set_moi(&mut self, moi: String) { - self.moi = Some(moi); - } - - pub fn with_moi(mut self, moi: String) -> Evaluation { - self.moi = Some(moi); - self - } - - pub fn moi(&self) -> Option<&String> { - self.moi.as_ref() - } - - pub fn reset_moi(&mut self) { - self.moi = None; - } - - pub fn set_current_diagnostic(&mut self, current_diagnostic: bool) { - self.current_diagnostic = Some(current_diagnostic); - } - - pub fn with_current_diagnostic(mut self, current_diagnostic: bool) -> Evaluation { - self.current_diagnostic = Some(current_diagnostic); - self - } - - pub fn current_diagnostic(&self) -> Option<&bool> { - self.current_diagnostic.as_ref() - } - - pub fn reset_current_diagnostic(&mut self) { - self.current_diagnostic = None; - } - - pub fn set_clinically_relevant(&mut self, clinically_relevant: bool) { - self.clinically_relevant = Some(clinically_relevant); - } - - pub fn with_clinically_relevant(mut self, clinically_relevant: bool) -> Evaluation { - self.clinically_relevant = Some(clinically_relevant); - self - } - - pub fn clinically_relevant(&self) -> Option<&bool> { - self.clinically_relevant.as_ref() - } - - pub fn reset_clinically_relevant(&mut self) { - self.clinically_relevant = None; - } -} diff --git a/src/genes/cli/data/panelapp/gene.rs b/src/genes/cli/data/panelapp/gene.rs deleted file mode 100644 index 2a226e29..00000000 --- a/src/genes/cli/data/panelapp/gene.rs +++ /dev/null @@ -1,260 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct Gene { - #[serde(rename = "gene_data")] - gene_data: Option, - #[serde(rename = "entity_type")] - entity_type: String, - #[serde(rename = "entity_name")] - entity_name: String, - #[serde(rename = "confidence_level")] - confidence_level: String, - #[serde(rename = "penetrance")] - penetrance: Option, - #[serde(rename = "mode_of_pathogenicity")] - mode_of_pathogenicity: Option, - #[serde(rename = "publications")] - publications: Vec, - #[serde(rename = "evidence")] - evidence: Vec, - #[serde(rename = "phenotypes")] - phenotypes: Vec, - #[serde(rename = "mode_of_inheritance")] - mode_of_inheritance: String, - #[serde(rename = "tags")] - tags: Option>, - #[serde(rename = "panel")] - panel: Option, - #[serde(rename = "transcript")] - transcript: Option>, -} - -impl Gene { - pub fn new( - entity_type: String, - entity_name: String, - confidence_level: String, - publications: Vec, - evidence: Vec, - phenotypes: Vec, - mode_of_inheritance: String, - transcript: Option>, - ) -> Gene { - Gene { - gene_data: None, - entity_type, - entity_name, - confidence_level, - penetrance: None, - mode_of_pathogenicity: None, - publications, - evidence, - phenotypes, - mode_of_inheritance, - tags: None, - panel: None, - transcript, - } - } - - pub fn set_gene_data(&mut self, gene_data: Value) { - self.gene_data = Some(gene_data); - } - - pub fn with_gene_data(mut self, gene_data: Value) -> Gene { - self.gene_data = Some(gene_data); - self - } - - pub fn gene_data(&self) -> Option<&Value> { - self.gene_data.as_ref() - } - - pub fn reset_gene_data(&mut self) { - self.gene_data = None; - } - - pub fn set_entity_type(&mut self, entity_type: String) { - self.entity_type = entity_type; - } - - pub fn with_entity_type(mut self, entity_type: String) -> Gene { - self.entity_type = entity_type; - self - } - - pub fn entity_type(&self) -> &String { - &self.entity_type - } - - pub fn set_entity_name(&mut self, entity_name: String) { - self.entity_name = entity_name; - } - - pub fn with_entity_name(mut self, entity_name: String) -> Gene { - self.entity_name = entity_name; - self - } - - pub fn entity_name(&self) -> &String { - &self.entity_name - } - - pub fn set_confidence_level(&mut self, confidence_level: String) { - self.confidence_level = confidence_level; - } - - pub fn with_confidence_level(mut self, confidence_level: String) -> Gene { - self.confidence_level = confidence_level; - self - } - - pub fn confidence_level(&self) -> &String { - &self.confidence_level - } - - pub fn set_penetrance(&mut self, penetrance: String) { - self.penetrance = Some(penetrance); - } - - pub fn with_penetrance(mut self, penetrance: String) -> Gene { - self.penetrance = Some(penetrance); - self - } - - pub fn penetrance(&self) -> Option<&String> { - self.penetrance.as_ref() - } - - pub fn reset_penetrance(&mut self) { - self.penetrance = None; - } - - pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - } - - pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Gene { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - self - } - - pub fn mode_of_pathogenicity(&self) -> Option<&String> { - self.mode_of_pathogenicity.as_ref() - } - - pub fn reset_mode_of_pathogenicity(&mut self) { - self.mode_of_pathogenicity = None; - } - - pub fn set_publications(&mut self, publications: Vec) { - self.publications = publications; - } - - pub fn with_publications(mut self, publications: Vec) -> Gene { - self.publications = publications; - self - } - - pub fn publications(&self) -> &Vec { - &self.publications - } - - pub fn set_evidence(&mut self, evidence: Vec) { - self.evidence = evidence; - } - - pub fn with_evidence(mut self, evidence: Vec) -> Gene { - self.evidence = evidence; - self - } - - pub fn evidence(&self) -> &Vec { - &self.evidence - } - - pub fn set_phenotypes(&mut self, phenotypes: Vec) { - self.phenotypes = phenotypes; - } - - pub fn with_phenotypes(mut self, phenotypes: Vec) -> Gene { - self.phenotypes = phenotypes; - self - } - - pub fn phenotypes(&self) -> &Vec { - &self.phenotypes - } - - pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { - self.mode_of_inheritance = mode_of_inheritance; - } - - pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Gene { - self.mode_of_inheritance = mode_of_inheritance; - self - } - - pub fn mode_of_inheritance(&self) -> &String { - &self.mode_of_inheritance - } - - pub fn set_tags(&mut self, tags: Vec) { - self.tags = Some(tags); - } - - pub fn with_tags(mut self, tags: Vec) -> Gene { - self.tags = Some(tags); - self - } - - pub fn tags(&self) -> Option<&Vec> { - self.tags.as_ref() - } - - pub fn reset_tags(&mut self) { - self.tags = None; - } - - pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { - self.panel = Some(panel); - } - - pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Gene { - self.panel = Some(panel); - self - } - - pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { - self.panel.as_ref() - } - - pub fn reset_panel(&mut self) { - self.panel = None; - } - - pub fn set_transcript(&mut self, transcript: Option>) { - self.transcript = transcript; - } - - pub fn with_transcript(mut self, transcript: Option>) -> Gene { - self.transcript = transcript; - self - } - - pub fn transcript(&self) -> &Option> { - &self.transcript - } -} diff --git a/src/genes/cli/data/panelapp/historical_snapshot.rs b/src/genes/cli/data/panelapp/historical_snapshot.rs deleted file mode 100644 index 98e7b5b4..00000000 --- a/src/genes/cli/data/panelapp/historical_snapshot.rs +++ /dev/null @@ -1,59 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct HistoricalSnapshot { - #[serde(rename = "data")] - data: Value, - #[serde(rename = "signed_off_date")] - signed_off_date: Option, -} - -impl HistoricalSnapshot { - pub fn new(data: Value) -> HistoricalSnapshot { - HistoricalSnapshot { - data, - signed_off_date: None, - } - } - - pub fn set_data(&mut self, data: Value) { - self.data = data; - } - - pub fn with_data(mut self, data: Value) -> HistoricalSnapshot { - self.data = data; - self - } - - pub fn data(&self) -> &Value { - &self.data - } - - pub fn set_signed_off_date(&mut self, signed_off_date: String) { - self.signed_off_date = Some(signed_off_date); - } - - pub fn with_signed_off_date(mut self, signed_off_date: String) -> HistoricalSnapshot { - self.signed_off_date = Some(signed_off_date); - self - } - - pub fn signed_off_date(&self) -> Option<&String> { - self.signed_off_date.as_ref() - } - - pub fn reset_signed_off_date(&mut self) { - self.signed_off_date = None; - } -} diff --git a/src/genes/cli/data/panelapp/inline_response_200.rs b/src/genes/cli/data/panelapp/inline_response_200.rs deleted file mode 100644 index 7f649b12..00000000 --- a/src/genes/cli/data/panelapp/inline_response_200.rs +++ /dev/null @@ -1,101 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct InlineResponse200 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec, -} - -impl InlineResponse200 { - pub fn new( - count: i32, - results: Vec, - ) -> InlineResponse200 { - InlineResponse200 { - count, - next: None, - previous: None, - results, - } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse200 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } - - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } - - pub fn with_next(mut self, next: String) -> InlineResponse200 { - self.next = Some(next); - self - } - - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } - - pub fn reset_next(&mut self) { - self.next = None; - } - - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } - - pub fn with_previous(mut self, previous: String) -> InlineResponse200 { - self.previous = Some(previous); - self - } - - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } - - pub fn reset_previous(&mut self) { - self.previous = None; - } - - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } - - pub fn with_results( - mut self, - results: Vec, - ) -> InlineResponse200 { - self.results = results; - self - } - - pub fn results(&self) -> &Vec { - &self.results - } -} diff --git a/src/genes/cli/data/panelapp/inline_response_200_1.rs b/src/genes/cli/data/panelapp/inline_response_200_1.rs deleted file mode 100644 index 8c3d2239..00000000 --- a/src/genes/cli/data/panelapp/inline_response_200_1.rs +++ /dev/null @@ -1,95 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct InlineResponse2001 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec, -} - -impl InlineResponse2001 { - pub fn new(count: i32, results: Vec) -> InlineResponse2001 { - InlineResponse2001 { - count, - next: None, - previous: None, - results, - } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2001 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } - - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } - - pub fn with_next(mut self, next: String) -> InlineResponse2001 { - self.next = Some(next); - self - } - - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } - - pub fn reset_next(&mut self) { - self.next = None; - } - - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } - - pub fn with_previous(mut self, previous: String) -> InlineResponse2001 { - self.previous = Some(previous); - self - } - - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } - - pub fn reset_previous(&mut self) { - self.previous = None; - } - - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } - - pub fn with_results(mut self, results: Vec) -> InlineResponse2001 { - self.results = results; - self - } - - pub fn results(&self) -> &Vec { - &self.results - } -} diff --git a/src/genes/cli/data/panelapp/inline_response_200_2.rs b/src/genes/cli/data/panelapp/inline_response_200_2.rs deleted file mode 100644 index a2a0eb13..00000000 --- a/src/genes/cli/data/panelapp/inline_response_200_2.rs +++ /dev/null @@ -1,101 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct InlineResponse2002 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec, -} - -impl InlineResponse2002 { - pub fn new( - count: i32, - results: Vec, - ) -> InlineResponse2002 { - InlineResponse2002 { - count, - next: None, - previous: None, - results, - } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2002 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } - - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } - - pub fn with_next(mut self, next: String) -> InlineResponse2002 { - self.next = Some(next); - self - } - - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } - - pub fn reset_next(&mut self) { - self.next = None; - } - - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } - - pub fn with_previous(mut self, previous: String) -> InlineResponse2002 { - self.previous = Some(previous); - self - } - - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } - - pub fn reset_previous(&mut self) { - self.previous = None; - } - - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } - - pub fn with_results( - mut self, - results: Vec, - ) -> InlineResponse2002 { - self.results = results; - self - } - - pub fn results(&self) -> &Vec { - &self.results - } -} diff --git a/src/genes/cli/data/panelapp/inline_response_200_3.rs b/src/genes/cli/data/panelapp/inline_response_200_3.rs deleted file mode 100644 index 7964af93..00000000 --- a/src/genes/cli/data/panelapp/inline_response_200_3.rs +++ /dev/null @@ -1,101 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct InlineResponse2003 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec, -} - -impl InlineResponse2003 { - pub fn new( - count: i32, - results: Vec, - ) -> InlineResponse2003 { - InlineResponse2003 { - count, - next: None, - previous: None, - results, - } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2003 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } - - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } - - pub fn with_next(mut self, next: String) -> InlineResponse2003 { - self.next = Some(next); - self - } - - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } - - pub fn reset_next(&mut self) { - self.next = None; - } - - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } - - pub fn with_previous(mut self, previous: String) -> InlineResponse2003 { - self.previous = Some(previous); - self - } - - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } - - pub fn reset_previous(&mut self) { - self.previous = None; - } - - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } - - pub fn with_results( - mut self, - results: Vec, - ) -> InlineResponse2003 { - self.results = results; - self - } - - pub fn results(&self) -> &Vec { - &self.results - } -} diff --git a/src/genes/cli/data/panelapp/inline_response_200_4.rs b/src/genes/cli/data/panelapp/inline_response_200_4.rs deleted file mode 100644 index 931687f5..00000000 --- a/src/genes/cli/data/panelapp/inline_response_200_4.rs +++ /dev/null @@ -1,104 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct InlineResponse2004 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec, -} - -impl InlineResponse2004 { - pub fn new( - count: i32, - results: Vec, - ) -> InlineResponse2004 { - InlineResponse2004 { - count, - next: None, - previous: None, - results, - } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2004 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } - - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } - - pub fn with_next(mut self, next: String) -> InlineResponse2004 { - self.next = Some(next); - self - } - - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } - - pub fn reset_next(&mut self) { - self.next = None; - } - - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } - - pub fn with_previous(mut self, previous: String) -> InlineResponse2004 { - self.previous = Some(previous); - self - } - - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } - - pub fn reset_previous(&mut self) { - self.previous = None; - } - - pub fn set_results( - &mut self, - results: Vec, - ) { - self.results = results; - } - - pub fn with_results( - mut self, - results: Vec, - ) -> InlineResponse2004 { - self.results = results; - self - } - - pub fn results(&self) -> &Vec { - &self.results - } -} diff --git a/src/genes/cli/data/panelapp/inline_response_200_5.rs b/src/genes/cli/data/panelapp/inline_response_200_5.rs deleted file mode 100644 index 5671cbb7..00000000 --- a/src/genes/cli/data/panelapp/inline_response_200_5.rs +++ /dev/null @@ -1,101 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct InlineResponse2005 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec, -} - -impl InlineResponse2005 { - pub fn new( - count: i32, - results: Vec, - ) -> InlineResponse2005 { - InlineResponse2005 { - count, - next: None, - previous: None, - results, - } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2005 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } - - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } - - pub fn with_next(mut self, next: String) -> InlineResponse2005 { - self.next = Some(next); - self - } - - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } - - pub fn reset_next(&mut self) { - self.next = None; - } - - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } - - pub fn with_previous(mut self, previous: String) -> InlineResponse2005 { - self.previous = Some(previous); - self - } - - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } - - pub fn reset_previous(&mut self) { - self.previous = None; - } - - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } - - pub fn with_results( - mut self, - results: Vec, - ) -> InlineResponse2005 { - self.results = results; - self - } - - pub fn results(&self) -> &Vec { - &self.results - } -} diff --git a/src/genes/cli/data/panelapp/inline_response_200_6.rs b/src/genes/cli/data/panelapp/inline_response_200_6.rs deleted file mode 100644 index 575e9686..00000000 --- a/src/genes/cli/data/panelapp/inline_response_200_6.rs +++ /dev/null @@ -1,101 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct InlineResponse2006 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec, -} - -impl InlineResponse2006 { - pub fn new( - count: i32, - results: Vec, - ) -> InlineResponse2006 { - InlineResponse2006 { - count, - next: None, - previous: None, - results, - } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2006 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } - - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } - - pub fn with_next(mut self, next: String) -> InlineResponse2006 { - self.next = Some(next); - self - } - - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } - - pub fn reset_next(&mut self) { - self.next = None; - } - - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } - - pub fn with_previous(mut self, previous: String) -> InlineResponse2006 { - self.previous = Some(previous); - self - } - - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } - - pub fn reset_previous(&mut self) { - self.previous = None; - } - - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } - - pub fn with_results( - mut self, - results: Vec, - ) -> InlineResponse2006 { - self.results = results; - self - } - - pub fn results(&self) -> &Vec { - &self.results - } -} diff --git a/src/genes/cli/data/panelapp/inline_response_200_7.rs b/src/genes/cli/data/panelapp/inline_response_200_7.rs deleted file mode 100644 index 55ff0f86..00000000 --- a/src/genes/cli/data/panelapp/inline_response_200_7.rs +++ /dev/null @@ -1,101 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct InlineResponse2007 { - #[serde(rename = "count")] - count: i32, - #[serde(rename = "next")] - next: Option, - #[serde(rename = "previous")] - previous: Option, - #[serde(rename = "results")] - results: Vec, -} - -impl InlineResponse2007 { - pub fn new( - count: i32, - results: Vec, - ) -> InlineResponse2007 { - InlineResponse2007 { - count, - next: None, - previous: None, - results, - } - } - - pub fn set_count(&mut self, count: i32) { - self.count = count; - } - - pub fn with_count(mut self, count: i32) -> InlineResponse2007 { - self.count = count; - self - } - - pub fn count(&self) -> &i32 { - &self.count - } - - pub fn set_next(&mut self, next: String) { - self.next = Some(next); - } - - pub fn with_next(mut self, next: String) -> InlineResponse2007 { - self.next = Some(next); - self - } - - pub fn next(&self) -> Option<&String> { - self.next.as_ref() - } - - pub fn reset_next(&mut self) { - self.next = None; - } - - pub fn set_previous(&mut self, previous: String) { - self.previous = Some(previous); - } - - pub fn with_previous(mut self, previous: String) -> InlineResponse2007 { - self.previous = Some(previous); - self - } - - pub fn previous(&self) -> Option<&String> { - self.previous.as_ref() - } - - pub fn reset_previous(&mut self) { - self.previous = None; - } - - pub fn set_results(&mut self, results: Vec) { - self.results = results; - } - - pub fn with_results( - mut self, - results: Vec, - ) -> InlineResponse2007 { - self.results = results; - self - } - - pub fn results(&self) -> &Vec { - &self.results - } -} diff --git a/src/genes/cli/data/panelapp/mod.rs b/src/genes/cli/data/panelapp/mod.rs deleted file mode 100644 index ff269825..00000000 --- a/src/genes/cli/data/panelapp/mod.rs +++ /dev/null @@ -1,42 +0,0 @@ -#![allow(missing_docs)] -#![allow(clippy::too_many_arguments)] -#![allow(clippy::new_without_default)] -//! Code generated with `swagger-codegen` from: -//! -//! - https://panelapp.genomicsengland.co.uk/api/docs/?format=openapi - -mod activity; -pub use self::activity::Activity; -mod evaluation; -pub use self::evaluation::Evaluation; -mod gene; -pub use self::gene::Gene; -mod historical_snapshot; -pub use self::historical_snapshot::HistoricalSnapshot; -mod inline_response_200; -pub use self::inline_response_200::InlineResponse200; -mod inline_response_200_1; -pub use self::inline_response_200_1::InlineResponse2001; -mod inline_response_200_2; -pub use self::inline_response_200_2::InlineResponse2002; -mod inline_response_200_3; -pub use self::inline_response_200_3::InlineResponse2003; -mod inline_response_200_4; -pub use self::inline_response_200_4::InlineResponse2004; -mod inline_response_200_5; -pub use self::inline_response_200_5::InlineResponse2005; -mod inline_response_200_6; -pub use self::inline_response_200_6::InlineResponse2006; -mod inline_response_200_7; -pub use self::inline_response_200_7::InlineResponse2007; -mod panel; -pub use self::panel::Panel; -mod panel_type; -pub use self::panel_type::PanelType; -mod region; -pub use self::region::Region; -mod str; -pub use self::str::Str; - -// TODO(farcaller): sort out files -pub struct File; diff --git a/src/genes/cli/data/panelapp/panel.rs b/src/genes/cli/data/panelapp/panel.rs deleted file mode 100644 index a1085655..00000000 --- a/src/genes/cli/data/panelapp/panel.rs +++ /dev/null @@ -1,236 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct Panel { - #[serde(rename = "id")] - id: i32, - #[serde(rename = "hash_id")] - hash_id: Option, - #[serde(rename = "name")] - name: Option, - #[serde(rename = "disease_group")] - disease_group: Option, - #[serde(rename = "disease_sub_group")] - disease_sub_group: Option, - #[serde(rename = "status")] - status: Option, - #[serde(rename = "version")] - version: Option, - #[serde(rename = "version_created")] - version_created: Option, - #[serde(rename = "relevant_disorders")] - relevant_disorders: Vec, - /// Object with panel statistics (number of genes or STRs) - #[serde(rename = "stats")] - stats: Option, - #[serde(rename = "types")] - types: Option>, -} - -impl Panel { - pub fn new(id: i32, relevant_disorders: Vec) -> Panel { - Panel { - id, - hash_id: None, - name: None, - disease_group: None, - disease_sub_group: None, - status: None, - version: None, - version_created: None, - relevant_disorders, - stats: None, - types: None, - } - } - - pub fn set_id(&mut self, id: i32) { - self.id = id; - } - - pub fn with_id(mut self, id: i32) -> Panel { - self.id = id; - self - } - - pub fn id(&self) -> &i32 { - &self.id - } - - pub fn set_hash_id(&mut self, hash_id: String) { - self.hash_id = Some(hash_id); - } - - pub fn with_hash_id(mut self, hash_id: String) -> Panel { - self.hash_id = Some(hash_id); - self - } - - pub fn hash_id(&self) -> Option<&String> { - self.hash_id.as_ref() - } - - pub fn reset_hash_id(&mut self) { - self.hash_id = None; - } - - pub fn set_name(&mut self, name: String) { - self.name = Some(name); - } - - pub fn with_name(mut self, name: String) -> Panel { - self.name = Some(name); - self - } - - pub fn name(&self) -> Option<&String> { - self.name.as_ref() - } - - pub fn reset_name(&mut self) { - self.name = None; - } - - pub fn set_disease_group(&mut self, disease_group: String) { - self.disease_group = Some(disease_group); - } - - pub fn with_disease_group(mut self, disease_group: String) -> Panel { - self.disease_group = Some(disease_group); - self - } - - pub fn disease_group(&self) -> Option<&String> { - self.disease_group.as_ref() - } - - pub fn reset_disease_group(&mut self) { - self.disease_group = None; - } - - pub fn set_disease_sub_group(&mut self, disease_sub_group: String) { - self.disease_sub_group = Some(disease_sub_group); - } - - pub fn with_disease_sub_group(mut self, disease_sub_group: String) -> Panel { - self.disease_sub_group = Some(disease_sub_group); - self - } - - pub fn disease_sub_group(&self) -> Option<&String> { - self.disease_sub_group.as_ref() - } - - pub fn reset_disease_sub_group(&mut self) { - self.disease_sub_group = None; - } - - pub fn set_status(&mut self, status: String) { - self.status = Some(status); - } - - pub fn with_status(mut self, status: String) -> Panel { - self.status = Some(status); - self - } - - pub fn status(&self) -> Option<&String> { - self.status.as_ref() - } - - pub fn reset_status(&mut self) { - self.status = None; - } - - pub fn set_version(&mut self, version: String) { - self.version = Some(version); - } - - pub fn with_version(mut self, version: String) -> Panel { - self.version = Some(version); - self - } - - pub fn version(&self) -> Option<&String> { - self.version.as_ref() - } - - pub fn reset_version(&mut self) { - self.version = None; - } - - pub fn set_version_created(&mut self, version_created: String) { - self.version_created = Some(version_created); - } - - pub fn with_version_created(mut self, version_created: String) -> Panel { - self.version_created = Some(version_created); - self - } - - pub fn version_created(&self) -> Option<&String> { - self.version_created.as_ref() - } - - pub fn reset_version_created(&mut self) { - self.version_created = None; - } - - pub fn set_relevant_disorders(&mut self, relevant_disorders: Vec) { - self.relevant_disorders = relevant_disorders; - } - - pub fn with_relevant_disorders(mut self, relevant_disorders: Vec) -> Panel { - self.relevant_disorders = relevant_disorders; - self - } - - pub fn relevant_disorders(&self) -> &Vec { - &self.relevant_disorders - } - - pub fn set_stats(&mut self, stats: Value) { - self.stats = Some(stats); - } - - pub fn with_stats(mut self, stats: Value) -> Panel { - self.stats = Some(stats); - self - } - - pub fn stats(&self) -> Option<&Value> { - self.stats.as_ref() - } - - pub fn reset_stats(&mut self) { - self.stats = None; - } - - pub fn set_types(&mut self, types: Vec) { - self.types = Some(types); - } - - pub fn with_types(mut self, types: Vec) -> Panel { - self.types = Some(types); - self - } - - pub fn types(&self) -> Option<&Vec> { - self.types.as_ref() - } - - pub fn reset_types(&mut self) { - self.types = None; - } -} diff --git a/src/genes/cli/data/panelapp/panel_type.rs b/src/genes/cli/data/panelapp/panel_type.rs deleted file mode 100644 index 697b77e6..00000000 --- a/src/genes/cli/data/panelapp/panel_type.rs +++ /dev/null @@ -1,75 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct PanelType { - #[serde(rename = "name")] - name: String, - #[serde(rename = "slug")] - slug: Option, - #[serde(rename = "description")] - description: String, -} - -impl PanelType { - pub fn new(name: String, description: String) -> PanelType { - PanelType { - name, - slug: None, - description, - } - } - - pub fn set_name(&mut self, name: String) { - self.name = name; - } - - pub fn with_name(mut self, name: String) -> PanelType { - self.name = name; - self - } - - pub fn name(&self) -> &String { - &self.name - } - - pub fn set_slug(&mut self, slug: String) { - self.slug = Some(slug); - } - - pub fn with_slug(mut self, slug: String) -> PanelType { - self.slug = Some(slug); - self - } - - pub fn slug(&self) -> Option<&String> { - self.slug.as_ref() - } - - pub fn reset_slug(&mut self) { - self.slug = None; - } - - pub fn set_description(&mut self, description: String) { - self.description = description; - } - - pub fn with_description(mut self, description: String) -> PanelType { - self.description = description; - self - } - - pub fn description(&self) -> &String { - &self.description - } -} diff --git a/src/genes/cli/data/panelapp/region.rs b/src/genes/cli/data/panelapp/region.rs deleted file mode 100644 index c4b8f7fc..00000000 --- a/src/genes/cli/data/panelapp/region.rs +++ /dev/null @@ -1,393 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct Region { - #[serde(rename = "gene_data")] - gene_data: Option, - #[serde(rename = "entity_type")] - entity_type: String, - #[serde(rename = "entity_name")] - entity_name: String, - /// Region Name - #[serde(rename = "verbose_name")] - verbose_name: Option, - #[serde(rename = "confidence_level")] - confidence_level: String, - #[serde(rename = "penetrance")] - penetrance: Option, - #[serde(rename = "mode_of_pathogenicity")] - mode_of_pathogenicity: Option, - #[serde(rename = "haploinsufficiency_score")] - haploinsufficiency_score: Option, - #[serde(rename = "triplosensitivity_score")] - triplosensitivity_score: Option, - /// Required percent of overlap - #[serde(rename = "required_overlap_percentage")] - required_overlap_percentage: i32, - #[serde(rename = "type_of_variants")] - type_of_variants: Option, - #[serde(rename = "publications")] - publications: Vec, - #[serde(rename = "evidence")] - evidence: Vec, - #[serde(rename = "phenotypes")] - phenotypes: Vec, - #[serde(rename = "mode_of_inheritance")] - mode_of_inheritance: String, - #[serde(rename = "chromosome")] - chromosome: String, - #[serde(rename = "grch37_coordinates")] - grch37_coordinates: Vec, - #[serde(rename = "grch38_coordinates")] - grch38_coordinates: Vec, - #[serde(rename = "tags")] - tags: Option>, - #[serde(rename = "panel")] - panel: Option, -} - -impl Region { - pub fn new( - entity_type: String, - entity_name: String, - confidence_level: String, - required_overlap_percentage: i32, - publications: Vec, - evidence: Vec, - phenotypes: Vec, - mode_of_inheritance: String, - chromosome: String, - grch37_coordinates: Vec, - grch38_coordinates: Vec, - ) -> Region { - Region { - gene_data: None, - entity_type, - entity_name, - verbose_name: None, - confidence_level, - penetrance: None, - mode_of_pathogenicity: None, - haploinsufficiency_score: None, - triplosensitivity_score: None, - required_overlap_percentage, - type_of_variants: None, - publications, - evidence, - phenotypes, - mode_of_inheritance, - chromosome, - grch37_coordinates, - grch38_coordinates, - tags: None, - panel: None, - } - } - - pub fn set_gene_data(&mut self, gene_data: Value) { - self.gene_data = Some(gene_data); - } - - pub fn with_gene_data(mut self, gene_data: Value) -> Region { - self.gene_data = Some(gene_data); - self - } - - pub fn gene_data(&self) -> Option<&Value> { - self.gene_data.as_ref() - } - - pub fn reset_gene_data(&mut self) { - self.gene_data = None; - } - - pub fn set_entity_type(&mut self, entity_type: String) { - self.entity_type = entity_type; - } - - pub fn with_entity_type(mut self, entity_type: String) -> Region { - self.entity_type = entity_type; - self - } - - pub fn entity_type(&self) -> &String { - &self.entity_type - } - - pub fn set_entity_name(&mut self, entity_name: String) { - self.entity_name = entity_name; - } - - pub fn with_entity_name(mut self, entity_name: String) -> Region { - self.entity_name = entity_name; - self - } - - pub fn entity_name(&self) -> &String { - &self.entity_name - } - - pub fn set_verbose_name(&mut self, verbose_name: String) { - self.verbose_name = Some(verbose_name); - } - - pub fn with_verbose_name(mut self, verbose_name: String) -> Region { - self.verbose_name = Some(verbose_name); - self - } - - pub fn verbose_name(&self) -> Option<&String> { - self.verbose_name.as_ref() - } - - pub fn reset_verbose_name(&mut self) { - self.verbose_name = None; - } - - pub fn set_confidence_level(&mut self, confidence_level: String) { - self.confidence_level = confidence_level; - } - - pub fn with_confidence_level(mut self, confidence_level: String) -> Region { - self.confidence_level = confidence_level; - self - } - - pub fn confidence_level(&self) -> &String { - &self.confidence_level - } - - pub fn set_penetrance(&mut self, penetrance: String) { - self.penetrance = Some(penetrance); - } - - pub fn with_penetrance(mut self, penetrance: String) -> Region { - self.penetrance = Some(penetrance); - self - } - - pub fn penetrance(&self) -> Option<&String> { - self.penetrance.as_ref() - } - - pub fn reset_penetrance(&mut self) { - self.penetrance = None; - } - - pub fn set_mode_of_pathogenicity(&mut self, mode_of_pathogenicity: String) { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - } - - pub fn with_mode_of_pathogenicity(mut self, mode_of_pathogenicity: String) -> Region { - self.mode_of_pathogenicity = Some(mode_of_pathogenicity); - self - } - - pub fn mode_of_pathogenicity(&self) -> Option<&String> { - self.mode_of_pathogenicity.as_ref() - } - - pub fn reset_mode_of_pathogenicity(&mut self) { - self.mode_of_pathogenicity = None; - } - - pub fn set_haploinsufficiency_score(&mut self, haploinsufficiency_score: String) { - self.haploinsufficiency_score = Some(haploinsufficiency_score); - } - - pub fn with_haploinsufficiency_score(mut self, haploinsufficiency_score: String) -> Region { - self.haploinsufficiency_score = Some(haploinsufficiency_score); - self - } - - pub fn haploinsufficiency_score(&self) -> Option<&String> { - self.haploinsufficiency_score.as_ref() - } - - pub fn reset_haploinsufficiency_score(&mut self) { - self.haploinsufficiency_score = None; - } - - pub fn set_triplosensitivity_score(&mut self, triplosensitivity_score: String) { - self.triplosensitivity_score = Some(triplosensitivity_score); - } - - pub fn with_triplosensitivity_score(mut self, triplosensitivity_score: String) -> Region { - self.triplosensitivity_score = Some(triplosensitivity_score); - self - } - - pub fn triplosensitivity_score(&self) -> Option<&String> { - self.triplosensitivity_score.as_ref() - } - - pub fn reset_triplosensitivity_score(&mut self) { - self.triplosensitivity_score = None; - } - - pub fn set_required_overlap_percentage(&mut self, required_overlap_percentage: i32) { - self.required_overlap_percentage = required_overlap_percentage; - } - - pub fn with_required_overlap_percentage(mut self, required_overlap_percentage: i32) -> Region { - self.required_overlap_percentage = required_overlap_percentage; - self - } - - pub fn required_overlap_percentage(&self) -> &i32 { - &self.required_overlap_percentage - } - - pub fn set_type_of_variants(&mut self, type_of_variants: String) { - self.type_of_variants = Some(type_of_variants); - } - - pub fn with_type_of_variants(mut self, type_of_variants: String) -> Region { - self.type_of_variants = Some(type_of_variants); - self - } - - pub fn type_of_variants(&self) -> Option<&String> { - self.type_of_variants.as_ref() - } - - pub fn reset_type_of_variants(&mut self) { - self.type_of_variants = None; - } - - pub fn set_publications(&mut self, publications: Vec) { - self.publications = publications; - } - - pub fn with_publications(mut self, publications: Vec) -> Region { - self.publications = publications; - self - } - - pub fn publications(&self) -> &Vec { - &self.publications - } - - pub fn set_evidence(&mut self, evidence: Vec) { - self.evidence = evidence; - } - - pub fn with_evidence(mut self, evidence: Vec) -> Region { - self.evidence = evidence; - self - } - - pub fn evidence(&self) -> &Vec { - &self.evidence - } - - pub fn set_phenotypes(&mut self, phenotypes: Vec) { - self.phenotypes = phenotypes; - } - - pub fn with_phenotypes(mut self, phenotypes: Vec) -> Region { - self.phenotypes = phenotypes; - self - } - - pub fn phenotypes(&self) -> &Vec { - &self.phenotypes - } - - pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { - self.mode_of_inheritance = mode_of_inheritance; - } - - pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Region { - self.mode_of_inheritance = mode_of_inheritance; - self - } - - pub fn mode_of_inheritance(&self) -> &String { - &self.mode_of_inheritance - } - - pub fn set_chromosome(&mut self, chromosome: String) { - self.chromosome = chromosome; - } - - pub fn with_chromosome(mut self, chromosome: String) -> Region { - self.chromosome = chromosome; - self - } - - pub fn chromosome(&self) -> &String { - &self.chromosome - } - - pub fn set_grch37_coordinates(&mut self, grch37_coordinates: Vec) { - self.grch37_coordinates = grch37_coordinates; - } - - pub fn with_grch37_coordinates(mut self, grch37_coordinates: Vec) -> Region { - self.grch37_coordinates = grch37_coordinates; - self - } - - pub fn grch37_coordinates(&self) -> &Vec { - &self.grch37_coordinates - } - - pub fn set_grch38_coordinates(&mut self, grch38_coordinates: Vec) { - self.grch38_coordinates = grch38_coordinates; - } - - pub fn with_grch38_coordinates(mut self, grch38_coordinates: Vec) -> Region { - self.grch38_coordinates = grch38_coordinates; - self - } - - pub fn grch38_coordinates(&self) -> &Vec { - &self.grch38_coordinates - } - - pub fn set_tags(&mut self, tags: Vec) { - self.tags = Some(tags); - } - - pub fn with_tags(mut self, tags: Vec) -> Region { - self.tags = Some(tags); - self - } - - pub fn tags(&self) -> Option<&Vec> { - self.tags.as_ref() - } - - pub fn reset_tags(&mut self) { - self.tags = None; - } - - pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { - self.panel = Some(panel); - } - - pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Region { - self.panel = Some(panel); - self - } - - pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { - self.panel.as_ref() - } - - pub fn reset_panel(&mut self) { - self.panel = None; - } -} diff --git a/src/genes/cli/data/panelapp/str.rs b/src/genes/cli/data/panelapp/str.rs deleted file mode 100644 index 5020ba7d..00000000 --- a/src/genes/cli/data/panelapp/str.rs +++ /dev/null @@ -1,327 +0,0 @@ -/* - * PanelApp API - * - * PanelApp API - * - * OpenAPI spec version: v1 - * Contact: panelapp@genomicsengland.co.uk - * Generated by: https://github.com/swagger-api/swagger-codegen.git - */ - -#[allow(unused_imports)] -use serde_json::Value; - -#[derive(Debug, Clone, serde::Serialize, serde::Deserialize)] -pub struct Str { - #[serde(rename = "gene_data")] - gene_data: Option, - #[serde(rename = "entity_type")] - entity_type: String, - #[serde(rename = "entity_name")] - entity_name: String, - #[serde(rename = "confidence_level")] - confidence_level: String, - #[serde(rename = "penetrance")] - penetrance: Option, - #[serde(rename = "publications")] - publications: Vec, - #[serde(rename = "evidence")] - evidence: Vec, - #[serde(rename = "phenotypes")] - phenotypes: Vec, - #[serde(rename = "mode_of_inheritance")] - mode_of_inheritance: String, - #[serde(rename = "repeated_sequence")] - repeated_sequence: String, - #[serde(rename = "chromosome")] - chromosome: String, - #[serde(rename = "grch37_coordinates")] - grch37_coordinates: Vec, - #[serde(rename = "grch38_coordinates")] - grch38_coordinates: Vec, - /// =< Maximum normal number of repeats - #[serde(rename = "normal_repeats")] - normal_repeats: i32, - /// >= Minimum fully penetrant pathogenic number of repeats - #[serde(rename = "pathogenic_repeats")] - pathogenic_repeats: i32, - #[serde(rename = "tags")] - tags: Option>, - #[serde(rename = "panel")] - panel: Option, -} - -impl Str { - pub fn new( - entity_type: String, - entity_name: String, - confidence_level: String, - publications: Vec, - evidence: Vec, - phenotypes: Vec, - mode_of_inheritance: String, - repeated_sequence: String, - chromosome: String, - grch37_coordinates: Vec, - grch38_coordinates: Vec, - normal_repeats: i32, - pathogenic_repeats: i32, - ) -> Str { - Str { - gene_data: None, - entity_type, - entity_name, - confidence_level, - penetrance: None, - publications, - evidence, - phenotypes, - mode_of_inheritance, - repeated_sequence, - chromosome, - grch37_coordinates, - grch38_coordinates, - normal_repeats, - pathogenic_repeats, - tags: None, - panel: None, - } - } - - pub fn set_gene_data(&mut self, gene_data: Value) { - self.gene_data = Some(gene_data); - } - - pub fn with_gene_data(mut self, gene_data: Value) -> Str { - self.gene_data = Some(gene_data); - self - } - - pub fn gene_data(&self) -> Option<&Value> { - self.gene_data.as_ref() - } - - pub fn reset_gene_data(&mut self) { - self.gene_data = None; - } - - pub fn set_entity_type(&mut self, entity_type: String) { - self.entity_type = entity_type; - } - - pub fn with_entity_type(mut self, entity_type: String) -> Str { - self.entity_type = entity_type; - self - } - - pub fn entity_type(&self) -> &String { - &self.entity_type - } - - pub fn set_entity_name(&mut self, entity_name: String) { - self.entity_name = entity_name; - } - - pub fn with_entity_name(mut self, entity_name: String) -> Str { - self.entity_name = entity_name; - self - } - - pub fn entity_name(&self) -> &String { - &self.entity_name - } - - pub fn set_confidence_level(&mut self, confidence_level: String) { - self.confidence_level = confidence_level; - } - - pub fn with_confidence_level(mut self, confidence_level: String) -> Str { - self.confidence_level = confidence_level; - self - } - - pub fn confidence_level(&self) -> &String { - &self.confidence_level - } - - pub fn set_penetrance(&mut self, penetrance: String) { - self.penetrance = Some(penetrance); - } - - pub fn with_penetrance(mut self, penetrance: String) -> Str { - self.penetrance = Some(penetrance); - self - } - - pub fn penetrance(&self) -> Option<&String> { - self.penetrance.as_ref() - } - - pub fn reset_penetrance(&mut self) { - self.penetrance = None; - } - - pub fn set_publications(&mut self, publications: Vec) { - self.publications = publications; - } - - pub fn with_publications(mut self, publications: Vec) -> Str { - self.publications = publications; - self - } - - pub fn publications(&self) -> &Vec { - &self.publications - } - - pub fn set_evidence(&mut self, evidence: Vec) { - self.evidence = evidence; - } - - pub fn with_evidence(mut self, evidence: Vec) -> Str { - self.evidence = evidence; - self - } - - pub fn evidence(&self) -> &Vec { - &self.evidence - } - - pub fn set_phenotypes(&mut self, phenotypes: Vec) { - self.phenotypes = phenotypes; - } - - pub fn with_phenotypes(mut self, phenotypes: Vec) -> Str { - self.phenotypes = phenotypes; - self - } - - pub fn phenotypes(&self) -> &Vec { - &self.phenotypes - } - - pub fn set_mode_of_inheritance(&mut self, mode_of_inheritance: String) { - self.mode_of_inheritance = mode_of_inheritance; - } - - pub fn with_mode_of_inheritance(mut self, mode_of_inheritance: String) -> Str { - self.mode_of_inheritance = mode_of_inheritance; - self - } - - pub fn mode_of_inheritance(&self) -> &String { - &self.mode_of_inheritance - } - - pub fn set_repeated_sequence(&mut self, repeated_sequence: String) { - self.repeated_sequence = repeated_sequence; - } - - pub fn with_repeated_sequence(mut self, repeated_sequence: String) -> Str { - self.repeated_sequence = repeated_sequence; - self - } - - pub fn repeated_sequence(&self) -> &String { - &self.repeated_sequence - } - - pub fn set_chromosome(&mut self, chromosome: String) { - self.chromosome = chromosome; - } - - pub fn with_chromosome(mut self, chromosome: String) -> Str { - self.chromosome = chromosome; - self - } - - pub fn chromosome(&self) -> &String { - &self.chromosome - } - - pub fn set_grch37_coordinates(&mut self, grch37_coordinates: Vec) { - self.grch37_coordinates = grch37_coordinates; - } - - pub fn with_grch37_coordinates(mut self, grch37_coordinates: Vec) -> Str { - self.grch37_coordinates = grch37_coordinates; - self - } - - pub fn grch37_coordinates(&self) -> &Vec { - &self.grch37_coordinates - } - - pub fn set_grch38_coordinates(&mut self, grch38_coordinates: Vec) { - self.grch38_coordinates = grch38_coordinates; - } - - pub fn with_grch38_coordinates(mut self, grch38_coordinates: Vec) -> Str { - self.grch38_coordinates = grch38_coordinates; - self - } - - pub fn grch38_coordinates(&self) -> &Vec { - &self.grch38_coordinates - } - - pub fn set_normal_repeats(&mut self, normal_repeats: i32) { - self.normal_repeats = normal_repeats; - } - - pub fn with_normal_repeats(mut self, normal_repeats: i32) -> Str { - self.normal_repeats = normal_repeats; - self - } - - pub fn normal_repeats(&self) -> &i32 { - &self.normal_repeats - } - - pub fn set_pathogenic_repeats(&mut self, pathogenic_repeats: i32) { - self.pathogenic_repeats = pathogenic_repeats; - } - - pub fn with_pathogenic_repeats(mut self, pathogenic_repeats: i32) -> Str { - self.pathogenic_repeats = pathogenic_repeats; - self - } - - pub fn pathogenic_repeats(&self) -> &i32 { - &self.pathogenic_repeats - } - - pub fn set_tags(&mut self, tags: Vec) { - self.tags = Some(tags); - } - - pub fn with_tags(mut self, tags: Vec) -> Str { - self.tags = Some(tags); - self - } - - pub fn tags(&self) -> Option<&Vec> { - self.tags.as_ref() - } - - pub fn reset_tags(&mut self) { - self.tags = None; - } - - pub fn set_panel(&mut self, panel: crate::genes::cli::data::panelapp::Panel) { - self.panel = Some(panel); - } - - pub fn with_panel(mut self, panel: crate::genes::cli::data::panelapp::Panel) -> Str { - self.panel = Some(panel); - self - } - - pub fn panel(&self) -> Option<&crate::genes::cli::data::panelapp::Panel> { - self.panel.as_ref() - } - - pub fn reset_panel(&mut self) { - self.panel = None; - } -} diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap deleted file mode 100644 index 70c4d276..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap +++ /dev/null @@ -1,16189 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- gene_id: "673" - summary: "This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]" - rif_entries: - - text: WNT5A-ROR2 axis mediates VEGF dependence of BRAF mutant melanoma. - pmids: - - "36539575" - - text: "[Landscape of KRAS, BRAF, and PIK3CA Mutations and Clinical Features of EBV-Associated and Microsatellite Unstable Gastric Cancer]." - pmids: - - "36976740" - - text: Association of DNA Promoter Methylation and BRAF Mutation in Thyroid Cancer. - pmids: - - "36975440" - - text: Mapping Immune Correlates and Surfaceome Genes in BRAF Mutated Colorectal Cancers. - pmids: - - "36975409" - - text: "Analysis of a pre-2017 follicular variant papillary thyroid carcinoma cohort reclassified as noninvasive follicular thyroid neoplasm with papillary-like features (NIFTP): an 11-year retrospective single institution experience." - pmids: - - "36372672" - - text: "Association of BRAF Variants With Disease Characteristics, Prognosis, and Targeted Therapy Response in Intrahepatic Cholangiocarcinoma." - pmids: - - "36867406" - - text: MUC1-C is necessary for SHP2 activation and BRAF inhibitor resistance in BRAF(V600E) mutant colorectal cancer. - pmids: - - "36878307" - - text: "MR Imaging of Pediatric Low-Grade Gliomas: Pretherapeutic Differentiation of BRAF V600E Mutation, BRAF Fusion, and Wild-Type Tumors in Patients without Neurofibromatosis-1." - pmids: - - "35863783" - - text: "The Presence of Typical \"BRAFV600E-Like\" Atypia in Papillary Thyroid Carcinoma is Highly Specific for the Presence of the BRAFV600E Mutation." - pmids: - - "36709221" - - text: "Association of BRAF[V600E] Mutation with the Aggressive Behavior of Papillary Thyroid Microcarcinoma: A Meta-Analysis of 33 Studies." - pmids: - - "36555268" - - text: "Resistance to BRAF Inhibitors: EZH2 and Its Downstream Targets as Potential Therapeutic Options in Melanoma." - pmids: - - "36768289" - - text: "Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion." - pmids: - - "36520196" - - text: TMB and BRAF mutation status are independent predictive factors in high-risk melanoma patients with adjuvant anti-PD-1 therapy. - pmids: - - "35192052" - - text: Detection of BRAF mutations in malignant melanoma and colorectal cancer by SensiScreen(R) FFPE BRAF qPCR assay. - pmids: - - "36758042" - - text: "[Two Cases of Recurrent Colon Cancer with BRAF Mutation]." - pmids: - - "36733110" - - text: Clinical associations and genetic interactions of oncogenic BRAF alleles. - pmids: - - "36275468" - - text: The implication of BRAF mutation in advanced colorectal cancer. - pmids: - - "34877621" - - text: BRAFV600E Mutation Enhances Estrogen-Induced Metastatic Potential of Thyroid Cancer by Regulating the Expression of Estrogen Receptors. - pmids: - - "36604958" - - text: "RAS and BRAF genes as biomarkers and target for personalised colorectal cancer therapy: An update." - pmids: - - "36591710" - - text: The relationship of the clinicopathological characteristics and treatment results of post-Chornobyl papillary thyroid microcarcinomas with the latency period and radiation exposure. - pmids: - - "36589808" - - text: "Silencing FOXP2 reverses vemurafenib resistance in BRAF[V600E] mutant papillary thyroid cancer and melanoma cells." - pmids: - - "36331719" - - text: BRAF V600E and Novel Somatic Mutations in Thyroid Cancer of Libyan Patients. - pmids: - - "36579983" - - text: Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic data. - pmids: - - "36503484" - - text: "BRAF[V600E] in colorectal cancer reduces sensitivity to oxidative stress and promotes site-specific metastasis by stimulating glutathione synthesis." - pmids: - - "36450250" - - text: Prognostic value of blood cell count-derived ratios in BRAF-mutated metastatic melanoma. - pmids: - - "34446937" - - text: Immunological and Clinico-Molecular Features of Tumor Border Configuration in Colorectal Cancer. - pmids: - - "36519916" - - text: "Association of BRAF V600E Status of Incident Melanoma and Risk for a Second Primary Malignancy: A Population-Based Study." - pmids: - - "36446115" - - text: Identification of a miRNA-based non-invasive predictive biomarker of response to target therapy in BRAF-mutant melanoma. - pmids: - - "36438490" - - text: RASopathy mutations provide functional insight into the BRAF cysteine-rich domain and reveal the importance of autoinhibition in BRAF regulation. - pmids: - - "36347258" - - text: Positive BRAFV600E mutation of primary tumor influences radioiodine avidity but not prognosis of papillary thyroid cancer with lung metastases. - pmids: - - "36407316" - - text: "Non-V600E/K BRAF Mutations in Metastatic Melanoma: Molecular Description, Frequency, and Effectiveness of Targeted Therapy in a Large National Cohort." - pmids: - - "36356284" - - text: "Energy balance-related factors in childhood and adolescence and risk of colorectal cancer based on KRAS, PIK3CA, and BRAF mutations and MMR status." - pmids: - - "36177801" - - text: "Clinical characteristics and treatment outcomes of non-V600 E/K BRAF mutant melanoma patients: a single-institution experience." - pmids: - - "36039514" - - text: Prevalence and breakdown of non-small cell lung cancer BRAF driver mutations in a large UK cohort. - pmids: - - "36156323" - - text: Phosphoproteomics reveals the BRAF-ERK1/2 axis as an important pathogenic signaling node in cartilage degeneration. - pmids: - - "36100125" - - text: The lipid transporter HDLBP promotes hepatocellular carcinoma metastasis through BRAF-dependent epithelial-mesenchymal transition. - pmids: - - "36122630" - - text: Clinical Significance of PEAK1 Expression and BRAF V600E Mutation in Papillary Thyroid Cancer. - pmids: - - "35996515" - - text: MEK inhibitor sensitivity in BRAF fusion-driven prostate cancer. - pmids: - - "35994225" - - text: Association between BRAF expression in circulating tumor cells and the clinical feature of patients with multiple myeloma. - pmids: - - "35951455" - - text: DOG1 overexpression is associated with mismatch repair deficiency and BRAF mutations but unrelated to cancer progression in colorectal cancer. - pmids: - - "35642329" - - text: "A cross-sectional study of clinical, dermoscopic, histopathological, and molecular patterns of scalp melanoma in patients with or without androgenetic alopecia." - pmids: - - "36064728" - - text: Correlation of MRI signal characteristics of intracranial melanoma metastases with BRAF mutation status. - pmids: - - "35979667" - - text: "Concurrent BRAFV600E and BRCA Mutations in MSS Metastatic Colorectal Cancer: Prevalence and Case Series of mCRC patients with prolonged OS." - pmids: - - "35567913" - - text: The genetic duet of BRAF V600E and TERT promoter mutations predicts the poor curative effect of radioiodine therapy in papillary thyroid cancer. - pmids: - - "35501518" - - text: Prevalence of the BRAF (V600E) mutation in Greek adults with Langerhans cell histiocytosis. - pmids: - - "35139731" - - text: Exome sequencing revealed comparable frequencies of RNF43 and BRAF mutations in Middle Eastern colorectal cancer. - pmids: - - "35907983" - - text: BRAF increases endothelial cell stiffness through reorganization of the actin cytoskeleton. - pmids: - - "35916021" - - text: The clinical significance of BRAFV600E mutations in pediatric papillary thyroid carcinomas. - pmids: - - "35879379" - - text: "BRAF V600E Expression in Primary Melanoma and Its Association With Death: A Population-Based, Retrospective, Cross-Sectional Study." - pmids: - - "35856752" - - text: Characterization of BRAF mutation in patients older than 45 years with well-differentiated thyroid carcinoma. - pmids: - - "32972866" - - text: "Correlation of BRAF mutational status with clinical characteristics and survival outcomes of patients with ameloblastoma: the experience of 11 Italian centres." - pmids: - - "33827932" - - text: "The Transcriptional Landscape of BRAF Wild Type Metastatic Melanoma: A Pilot Study." - pmids: - - "35805902" - - text: Acquired resistance to BRAF inhibitors is mediated by BRAF splicing variants in BRAF V600E mutation-positive colorectal neuroendocrine carcinoma. - pmids: - - "35724767" - - text: "Mind your head: two cases of mucosal metastasis of BRAF-mutated melanoma of the scalp." - pmids: - - "34142226" - - text: Risk Factors for Neck Nodal Metastasis in Papillary Thyroid Cancer With BRAF V600E Mutation. - pmids: - - "35784548" - - text: Analysis of BRAF V600E expression and disease-free survival in patients with ameloblastoma. - pmids: - - "34998647" - - text: BRAF Rearrangements and BRAF V600E Mutations Are Seen in a Subset of Pancreatic Carcinomas With Acinar Differentiation. - pmids: - - "34614142" - - text: "Tumor profiling of KRAS, BRAF, and NRAS gene mutations in patients with colorectal cancer: A Lebanese major center cohort study." - pmids: - - "35680020" - - text: "BRAF Immunoexpression Can Be Intralesionally Heterogeneous but BRAF V600E Mutation Status Is Intralesionally Homogeneous and Interlesionally Concordant in Melanoma: A Study of 140 Lesions From 98 Patients." - pmids: - - "35120030" - - text: Mutation patterns and prognostic analysis of BRAF/KRAS/PIK3CA in colorectal cancer. - pmids: - - "35435290" - - text: "MLH1, BRAF and p53 - searching for significant markers to predict evolution towards adenocarcinoma in colonic sessile serrated lesions." - pmids: - - "35673816" - - text: Clinical and radiological findings of glioblastomas harboring a BRAF V600E mutation. - pmids: - - "35362874" - - text: BRAF V600E and previously unidentified KRAS G12C mutations in odontogenic tumors may affect MAPK activation differently depending on tumor type. - pmids: - - "35353428" - - text: AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis. - pmids: - - "35585049" - - text: "Primary vitreoretinal involvement and immunopositivity for BRAFV600E help distinguish metastatic from primary intraocular melanoma: a detailed histopathologic study of metastatic cutaneous melanoma to the eye." - pmids: - - "35275414" - - text: Genetic Study of BRAF V600E and SMO L412F Mutations in Japanese Patients with Ameloblastoma. - pmids: - - "34994576" - - text: Clinicopathologic features and BRAF mutation status of tracheal glomus tumors - Characterization of 4 cases and the distinction from low-grade neuroendocrine tumors. - pmids: - - "34509154" - - text: "Characterization of TERT and BRAF copy number variation in papillary thyroid carcinoma: An analysis of the cancer genome atlas study." - pmids: - - "33305870" - - text: "Association of RAS/BRAF Status and Prognosis of Metastatic Colorectal Cancer: Analysis of 1002 Consecutive Cases." - pmids: - - "35301609" - - text: "The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways." - pmids: - - "35143042" - - text: Identification of BRAF V600E mutation in odontogenic tumors by high-performance MALDI-TOF analysis. - pmids: - - "35468886" - - text: "Benign and Intermediate-grade Melanocytic Tumors With BRAF Mutations and Spitzoid Morphology: A Subset of Melanocytic Neoplasms Distinct From Melanoma." - pmids: - - "34753863" - - text: BRAF Mutations Are Associated with Poor Survival Outcomes in Advanced-stage Mismatch Repair-deficient/Microsatellite High Colorectal Cancer. - pmids: - - "35274712" - - text: Same-Cell Co-Occurrence of RAS Hotspot and BRAF V600E Mutations in Treatment-Naive Colorectal Cancer. - pmids: - - "35235413" - - text: Single nucleotide polymorphisms in matrix metalloproteinase 2 (MMP2) enhance BRAFV600E mutation-mediated oncogenicity and invasiveness of papillary thyroid cancer cells. - pmids: - - "33690170" - - text: "The prognostic and predictive impact of BRAF mutations in deficient mismatch repair/microsatellite instability-high colorectal cancer: systematic review/meta-analysis." - pmids: - - "34323124" - - text: Psychological impact of BRAF mutational status in advanced melanoma patients. - pmids: - - "34159774" - - text: "KRAS and BRAF Mutations in Stage II and III Colon Cancer: A Systematic Review and Meta-Analysis." - pmids: - - "34542636" - - text: A B-Raf V600E gene signature for melanoma predicts prognosis and reveals sensitivity to targeted therapies. - pmids: - - "35044091" - - text: "[BRAF mutation evolution in melanoma: Myth or reality?]\", trans \"Evolution du statut braf dans le melanome : mythe ou Realite ?" - pmids: - - "34865880" - - text: Characterization of the treatment-naive immune microenvironment in melanoma with BRAF mutation. - pmids: - - "35383113" - - text: TP53/BRAF mutation as an aid in predicting response to immune-checkpoint inhibitor across multiple cancer types. - pmids: - - "35344507" - - text: Plasticity of Extrachromosomal and Intrachromosomal BRAF Amplifications in Overcoming Targeted Therapy Dosage Challenges. - pmids: - - "34930786" - - text: "[Clinicopathological features and BRAF V600E and MYD88 L265P mutation status of nodal marginal zone lymphoma]." - pmids: - - "35359040" - - text: Spectrum of BRAF Mutations and Gene Rearrangements in Ovarian Serous Carcinoma. - pmids: - - "34568720" - - text: Oncogenic Mutations in PI3K/AKT/mTOR Pathway Effectors Associate with Worse Prognosis in BRAF(V600E) -Driven Papillary Thyroid Cancer Patients. - pmids: - - "34088725" - - text: "Phase I-II Open-Label Multicenter Study of Palbociclib + Vemurafenib in BRAF (V600MUT) Metastatic Melanoma Patients: Uncovering CHEK2 as a Major Response Mechanism." - pmids: - - "33947696" - - text: "Frequency and Clinicopathological Characteristics of Patients With KRAS/BRAF Double-Mutant Colorectal Cancer: An In Silico Study." - pmids: - - "35280113" - - text: Tumors carrying BRAF-mutations over-express NAMPT that is genetically amplified and possesses oncogenic properties. - pmids: - - "35272691" - - text: BRAF-activated WT1 contributes to cancer growth and regulates autophagy and apoptosis in papillary thyroid carcinoma. - pmids: - - "35123502" - - text: "USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing's disease." - pmids: - - "34664215" - - text: Circulating Tumor DNA Harboring the BRAF(V600E) Mutation May Predict Poor Outcomes of Primary Papillary Thyroid Cancer Patients. - pmids: - - "34541884" - - text: "Retrospective Case Series Analysis of RAF Family Alterations in Pancreatic Cancer: Real-World Outcomes From Targeted and Standard Therapies." - pmids: - - "34476331" - - text: "Selective extraction of low-abundance BRAF V600E mutation from plasma, urine, and sputum using ion-tagged oligonucleotides and magnetic ionic liquids." - pmids: - - "33644840" - - text: Oncogenic Mutation BRAF V600E Changes Phenotypic Behavior of THLE-2 Liver Cells through Alteration of Gene Expression. - pmids: - - "35163468" - - text: BRAF mutations may identify a clinically distinct subset of glioblastoma. - pmids: - - "34625582" - - text: Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls. - pmids: - - "34398495" - - text: "Impact of BRAF mutations on clinical outcomes following liver surgery for colorectal liver metastases: An updated meta-analysis." - pmids: - - "34099355" - - text: "Impact of KRAS, BRAF and microsatellite instability status after cytoreductive surgery and HIPEC in a national cohort of colorectal peritoneal metastasis patients." - pmids: - - "34887523" - - text: GJB5 association with BRAF mutation and survival in cutaneous malignant melanoma. - pmids: - - "34240406" - - text: "BRAF V600E potentially determines \"\"Oncological Resectability\"\" for \"\"Technically Resectable\"\" colorectal liver metastases." - pmids: - - "34535965" - - text: Cardiomyocyte BRAF and type 1 RAF inhibitors promote cardiomyocyte and cardiac hypertrophy in mice in vivo. - pmids: - - "35147166" - - text: "[Correlation between conventional ultrasound features and BRAFV600E gene mutation and central lymph node metastasis in thyroid papillary carcinoma]." - pmids: - - "35193339" - - text: "Prognostic role of tumour-infiltrating lymphocytes and macrophages in relation to MSI, CDX2 and BRAF status: a population-based study of metastatic colorectal cancer patients." - pmids: - - "34671130" - - text: Structural insights into the BRAF monomer-to-dimer transition mediated by RAS binding. - pmids: - - "35078985" - - text: Acetylation-dependent regulation of BRAF oncogenic function. - pmids: - - "35045286" - - text: Diverse kinase alterations and myeloid-associated mutations in adult histiocytosis. - pmids: - - "34611301" - - text: The positive feedback loop of NHE1-ERK phosphorylation mediated by BRAF(V600E) mutation contributes to tumorigenesis and development of glioblastoma. - pmids: - - "34933181" - - text: A phospho-proteomic study of cetuximab resistance in KRAS/NRAS/BRAF(V600) wild-type colorectal cancer. - pmids: - - "34462871" - - text: Impact of BRAF mutations in nasopharyngeal carcinoma. - pmids: - - "34077019" - - text: Population-based analysis of the prevalence of BRAF mutation in patients diagnosed with cutaneous melanoma and its significance as a prognostic factor. - pmids: - - "34789445" - - text: "Significance of BRAF(V600E) mutation in intra-axial brain tumor in Malaysian patients: case series and literature review." - pmids: - - "34190524" - - text: "Clinical, radiological and genomic features and targeted therapy in BRAF V600E mutant adult glioblastoma." - pmids: - - "33646525" - - text: "VISTA, PDL-L1, and BRAF-A Review of New and Old Markers in the Prognosis of Melanoma." - pmids: - - "35056382" - - text: BRAF mutation correlates with worse local-regional control following radiation therapy in patients with stage III melanoma. - pmids: - - "34537078" - - text: LSD1 and Aberrant DNA Methylation Mediate Persistence of Enteroendocrine Progenitors That Support BRAF-Mutant Colorectal Cancer. - pmids: - - "34035083" - - text: Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma. - pmids: - - "33850302" - - text: "BRAF V600E/V600K Mutations versus Nonstandard Alterations: Prognostic Implications and Therapeutic Outcomes." - pmids: - - "33722853" - - text: RAF-Mutant Melanomas Differentially Depend on ERK2 Over ERK1 to Support Aberrant MAPK Pathway Activation and Cell Proliferation. - pmids: - - "33707308" - - text: Metabolic Regulator IAPP (Amylin) Is Required for BRAF and RAS Oncogene-Induced Senescence. - pmids: - - "33500359" - - text: Plasma proteome alterations by MAPK inhibitors in BRAF(V600)-mutated metastatic cutaneous melanoma. - pmids: - - "34246984" - - text: BRAF(V600E) Overrides NOTCH Signaling in Thyroid Cancer. - pmids: - - "33012268" - - text: "Clinical Characteristics of BRAF V600E Gene Mutation in Patients of Epilepsy-Associated Brain Tumor: a Meta-analysis." - pmids: - - "33791912" - - text: "Liquid biopsy for BRAF mutations testing in non-small cell lung cancer: a retrospective study." - pmids: - - "33277344" - - text: "Excellent Response to MEK Inhibition in an AGK-BRAF Gene Fusion Driven Carcinoma: Case Report and Literature Review." - pmids: - - "34969747" - - text: TERT promoter mutations are associated with longer progression-free and overall survival in patients with BRAF-mutant melanoma receiving BRAF and MEK inhibitor therapy. - pmids: - - "34936949" - - text: Development of a Molecular Assay for Detection and Quantification of the BRAF Variation in Residual Tissue From Thyroid Nodule Fine-Needle Aspiration Biopsy Specimens. - pmids: - - "34613404" - - text: "The Prognostic Value of Locoregional Interventions for BRAF V600E Metastatic Colorectal Cancer: A Retrospective Cohort Analysis." - pmids: - - "34572480" - - text: B-Raf autoinhibition in the presence and absence of 14-3-3. - pmids: - - "33711246" - - text: "BRAF (V600E) Mutation in Cell-Free DNA, Rather than in Lesion Tissues, at Diagnosis Is An Independent Prognostic Factor in Children with Langerhans Cell Histiocytosis." - pmids: - - "33879554" - - text: Genomic and prognostic heterogeneity among RAS/BRAF(V600E) /TP53 co-mutated resectable colorectal liver metastases. - pmids: - - "33325154" - - text: "Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging." - pmids: - - "34309696" - - text: Common and mutation specific phenotypes of KRAS and BRAF mutations in colorectal cancer cells revealed by integrative -omics analysis. - pmids: - - "34233735" - - text: METTL3 induces PLX4032 resistance in melanoma by promoting m(6)A-dependent EGFR translation. - pmids: - - "34530048" - - text: "High prevalence of BRAF(V600E) in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis." - pmids: - - "33991404" - - text: The Association of the BRAF-V600E Mutation with the Expression of the Molecular Markers in the Primary Tumor and Metastatic Tissue in Papillary Thyroid Cancer. - pmids: - - "34319022" - - text: Intermittent BRAF inhibition in advanced BRAF mutated melanoma results of a phase II randomized trial. - pmids: - - "34853302" - - text: High frequency of BRAF mutations in primary mucinous ovarian carcinoma of Taiwanese patients. - pmids: - - "34794740" - - text: "Clinical and prognostic characteristics of 95 cases of Langerhans cell histiocytosis in children: a single-institute experience from 2013 to 2020." - pmids: - - "34459688" - - text: BRAF mutations and BRAF mutation functional class have no negative impact on the clinical outcome of advanced NSCLC and associate with susceptibility to immunotherapy. - pmids: - - "33872981" - - text: BRAF Mutation Is Associated with Hyperplastic Polyp-Associated Gastric Cancer. - pmids: - - "34884530" - - text: Comparative study of BRAF gene mutations in ovarian serous tumors by immunohistochemistry and DNA sequencing. - pmids: - - "34268919" - - text: Oncogene mutational analysis in imatinib naive population of gastrointestinal stromal tumor patients. - pmids: - - "34174973" - - text: BRAF(V600E) induces reversible mitotic arrest in human melanocytes via microrna-mediated suppression of AURKB. - pmids: - - "34812139" - - text: BRAF V600E mutation is associated with aggressive features in papillary thyroid carcinomas A mutation in Mexican Papillary Thyroid Cancer patients. - pmids: - - "29808165" - - text: The frequency of BRAF mutations was significantly higher in Serrated Lesions subgroups with highly methylated epigenotype tumors and microsatellite instability. - pmids: - - "29974407" - - text: The rate of EGFR mutation was significantly higher in female and non-smoker patients. In TTF-1 positive cases EGFR mutation was more frequent. Age of the patients over 62-year old was correlated with KRAS mutations. The concordance between ALK IHC and FISH was 58.3%. The MET protein in the cases with MET amplification was 100% positive. - pmids: - - "28756651" - - text: "Lower CA125 serum levels, negative vascular invasion, and wild-type BRAF status were significantly associated with improved 2-year DFS rates among patient with stage III disease who received adjuvant chemotherapy." - pmids: - - "29562502" - - text: "genetic association/nutrigenomic studies in population in Seoul, Republic of Korea: Data suggest that (1) relatively low iodine intake and (2) more than excessive iodine intake are significant risk factors for occurrence of BRAF mutations in thyroid gland and may be risk factors for development of PTC (papillary thyroid cancer) in iodine-replete area." - pmids: - - "28258306" - - text: The BRAF gene has been reported to be mutated in some human cancers. The BRAF mutations have been implicated in ameloblastoma. - pmids: - - "28650588" - - text: The BRAFV600E mutation status may not impact the clinical response to radioiodine therapy for papillary thyroid carcinoma patients - pmids: - - "29762246" - - text: Children with Langerhans cell histiocytosis (LCH) tend to have a high overall survival rate and a high incidence rate of BRAF-V600E mutation. - pmids: - - "29658453" - - text: "BRAF mutations more frequently affected individuals younger than 61 with phototype II. In contrast, NRAS mutations were more frequent in phototype III cases. Mutations of both genes were more frequent in cases with satellitosis in the first melanoma, and in cases with ulceration in the subsequent lesions." - pmids: - - "29180316" - - text: Identification of KRAS/NRAS/BRAF mutation status is crucial to predict the therapeutic effect and determine individual therapeutic strategies for patients with colorectal cancer. - pmids: - - "29335867" - - text: we did not observe GNAS or BRAF mutations in urachal adenocarcinomas - pmids: - - "28285720" - - text: "Study finds infrequent BRAF alterations but enriched FGFR alterations in adults as compared with that reported in pediatric pilocytic astrocytomas. In addition, coexistent BRAF and FGFR alterations and a significant association of FGFR alterations with age and tumor location were noted." - pmids: - - "27608415" - - text: a low frequency of BRAF or KRAS mutation in Chinese patients with low-grade serous carcinoma of the ovary - pmids: - - "29273082" - - text: "genetic association studies in population in China: Data suggest that, in patients with unilateral papillary thyroid carcinoma, a mutation in BRAF (V600E) plus multi-focality are both independently and synergically associated with CLNM (central lymph node metastasis) in the population studied." - pmids: - - "29070763" - - text: "RHEB Y35N expressing cells undergo cancer transformation due to decreased interaction between RHEB and BRAF resulting in overactive RAF/MEK/ERK signaling. Taken together with the previously established function of RHEB to activate mTORC1 signaling, it appears that RHEB performs a dual function; one is to suppress the RAF/MEK/ERK signaling and the other is to activate mTORC1 signaling." - pmids: - - "29320991" - - text: The MLH1-93 AA genotype is significantly associated with promoter hypermethylation and MLH1 loss in the context of Sessile serrated adenoma of dysplasia. BRAF mutant microsatellite stable colorectal cancers with the AA genotype most likely arise in traditional serrated adenomas since the A allele does not predispose to methylation in this context. - pmids: - - "29304767" - - text: "Knowing the mutation status of KRAS, BRAF or PIK3CA in stage II colorectal cancer can significantly improve the accuracy of prognoses." - pmids: - - "28685592" - - text: "Mutated Liquid-based FNAs BRAF, N/HRAS and TERT mutations were significantly associated with malignancy regardless of the cytological classification" - pmids: - - "29094776" - - text: "our study suggests that an activating BRAF I463T mutation was associated with eosinophilic cystitis. Importantly, analysis of ctDNA obtained through \"liquid biopsies\" can identify potentially important genomic alterations in patients for whom biopsy may be difficult in terms of risk or cost." - pmids: - - "28829677" - - text: "The presence of BRAF(V600E) mutation in PTC confers a higher likelihood of FDG PET avidity and is associated with higher SUV uptake values compared to BRAF(V600E)-mutation negative status. [Review and Meta-Analysis]" - pmids: - - "29144823" - - text: "CREB1 may activate the transcription of wtBRAF through directly binding to its promoter, increasing BRAF expression and regulating the cell proliferation, migration and invasion of endometriosis." - pmids: - - "29286077" - - text: "A series of midline gangliogliomas demonstrate that the H3 K27M mutation can occur in association with the BRAF V600E mutation in grade I glioneuronal tumors. Despite the presence of H3 K27M mutations, these cases should not be graded and treated as grade IV tumors because they have a better spontaneous outcome than classic diffuse midline H3 K27M-mutant glioma." - pmids: - - "27984673" - - text: "In in vivo xenograft studies, BVD-523 showed dose-dependent growth inhibition and tumor regression. BVD-523 yielded synergistic antiproliferative effects in a BRAF(V600E)-mutant melanoma cell line xenograft model when used in combination with BRAF inhibition. Antitumor activity was also demonstrated in in vitro and in vivo models of acquired resistance to single-agent and combination BRAF/MEK-targeted therapy" - pmids: - - "28939558" - - text: "Proteomic analysis discovers that a novel E3 ligase, RNF44, accounts for ubiquitin-proteasome system of AMPK-alpha1 degradation in BRAF inhibitor-resistant melanoma cells." - pmids: - - "29094484" - - text: "common conjunctival melanocytic nevi have mutually exclusive mutations in BRAF and NRAS. The two conjunctival blue nevi harbored GNAQ mutations. This suggests the driver mutations of conjunctival nevi are similar to those of nevi of the skin. At the molecular level, conjunctival nevi appear more like cutaneous nevi than choroidal nevi" - pmids: - - "29332123" - - text: "the mutational status of BRAF, NRAS, and TERT promoter genes in 97 melanomas, was investigated." - pmids: - - "29061376" - - text: Coexistence of BRAF V600E mutation and EZH2 gain is rather prevalent in melanoma. - pmids: - - "29202777" - - text: is is the first series on adult patients with BRAF-mutated malignant glioma and leptomeningeal dissemination treated with dabrafenib monotherapy. All patients showed a dramatic response with one patient showing an ongoing response for more than two years. - pmids: - - "29039591" - - text: summary of the current evidence of non-V600 BRAF mutations and BRAF fusions in melanoma (review). - pmids: - - "28278349" - - text: "we have found that a subgroup of colorectal cancers, defined by having either KRAS or BRAF (KRAS/BRAF) mutations and BCL2L1 (encoding BCL-XL) amplification, can be effectively targeted by simultaneous inhibition of BCL-XL (with ABT-263) and MCL1 (with YM-155)." - pmids: - - "28611106" - - text: "Results show BRAFV600E mutation in 42.1% of papillary thyroid cancer (PTC) patients enrolled. In addition, BRAF mutation status was associated with the methylation and expression level of HOXD10 in PTC." - pmids: - - "29115628" - - text: findings demonstrate that KSR-MEK complexes allosterically activate BRAF through the action of N-terminal regulatory region and kinase domain contacts and challenge the accepted role of KSR as a scaffold for MEK recruitment to RAF - pmids: - - "29433126" - - text: The result of our study adds to the growing consensus that BRAF V600E mutational status should be analyzed in correlation with other molecular and clinicopathological prognostic factors for a better risk stratification. - pmids: - - "29199726" - - text: These results indicate that BRAF V600E mutation occurs in OKCs at a high rate and plays an important role in the pathogenesis of OKCs - pmids: - - "29103753" - - text: "data are consistent with those of other studies reporting a positive relation between BRAF V600E mutation and poor prognostic factors in PTC; however, the BRAF status did not significantly correlate with a response to therapy." - pmids: - - "28718951" - - text: "Authors systematically compared BRAF V600E and V600K skin cutaneous melanoma (SKCM) samples from the Cancer Genome Atlas (TCGA) for differential protein, gene, and microRNA expression genome-wide using the Mann-Whitney U-test. Analyses showed that elements of energy-metabolism and protein-translation pathways were upregulated and that proapoptotic pathways were downregulated in V600K tumors compared with V600E tumors." - pmids: - - "28858076" - - text: Enhanced BRAF-mediated NRF2 gene transcription and Histone Acetyltransferases-mediated NRF2 protein acetylation contributes to ABCC1-mediated chemoresistance and glutathione-mediated survival in acquired topoisomerase II poison-resistant cancer cells. - pmids: - - "29080842" - - text: The presence and frequency of BRAF c.1799T > A mutation was investigated in two archival tissue specimens of Hairy cell leukemia and Hairy cell leukemia Variant. - pmids: - - "29238890" - - text: BRAFV600E and RET/PTC and the expression of NF-kappaB promote the proliferation and migration of papillary thyroid carcinoma cells in vitro. - pmids: - - "29117154" - - text: "Meta-analysis: The combination of BRAF and TERT promoter mutations could classify PTCs into four distinct risk groups with decreasing aggressiveness as follows: coexisting BRAF and TERT > TERT alone=BRAF alone > no mutations." - pmids: - - "28666074" - - text: Data indicate proto-oncogene protein B-raf (BRAF)-V600E as the sole recurring somatic mutation in sessile serrated polyps (SSPs) with no additional major genetic mutations detected. - pmids: - - "29590112" - - text: Our findings showed BRAF and/or KRAS mutations in three of seven cases of low-grade serous neoplasms of the testis - pmids: - - "28543997" - - text: mutation profiles of BRAF wild-type craniopharyngiomas and ameloblastomas share mutations of FGFR genes and have additional mutations with potential for targeted therapy - pmids: - - "29546640" - - text: "In vemurafenib-treated patients, the cell-cycle gene signature was associated with shorter PFS. However, in cobimetinib combined with vemurafenib-treated patients, both cell cycle and immune signature subgroups had comparable PFS. Cobimetinib combined with vemurafenib may abrogate the adverse impact of the cell-cycle signature." - pmids: - - "28536307" - - text: results indicate that exposure of the melanoma cell lines to a modified PNA-peptide conjugate complementary to BRAF(V600E) mutation sequence results in a concentration-dependent and time-dependent inhibition of cell growth that is specific for the BRAF(V600E)-mutant melanoma cell lines with inhibition of mRNA and protein expression. - pmids: - - "28937091" - - text: "The diesel exhaust fumes-exposed patients were diagnosed with a BRAF mutation in 25% of all cases. Given its minimal effects in the subgroups, we conclude that occupational exposure slightly affects the molecular pattern of lung cancers in never-smokers." - pmids: - - "29074543" - - text: "while telomere length did not correlate with the presence of a mutation in BRAF (V-raf murine sarcoma viral oncogene homolog B), PIK3CA (phosphatidylinositol 3-kinase catalytic subunit), or MSI status, it was significantly associated with the occurrence of a mutation in KRAS" - pmids: - - "28850092" - - text: "study to identify the incidence of BRAF and CTNNB1 gene mutations in craniopharyngiomas and correlate it with clinicopathological parameters including histopathology, immunohistochemical expression of proteins BRAF pVal600Glu and beta-catenin and clinical outcome" - pmids: - - "28500561" - - text: "Exposure to cetuximab and various concentration of AG490, an inhibitor of JAK2, STAT3 and HSP27 protein levels, except in the KRAS G12V mutant line, SW620...cetuximab may promote SN38 sensitivity via suppression of HSP27, through blocking the JAK/STAT signaling pathway, and shows synergistic effects when combined with SN38 in wild-type RAS CRC cells." - pmids: - - "28656305" - - text: "meta-analysis revealed that, in patients with colorectal cancer, the BRAF mutation was associated with female, proximal site, poor differentiation, >5 cm size, and advanced AJCC stage" - pmids: - - "28611337" - - text: "The results of the trial submitted to confirm clinical benefit, which formed the FDA basis for the regular approval of nivolumab for the first-line treatment of patients with BRAFV600 wild-type (WT) unresectable or metastatic melanoma, are described in this article." - pmids: - - "28073844" - - text: "the FDA granted accelerated approval to nivolumab (OPDIVO; Bristol-Myers Squibb) for the treatment of patients with unresectable or metastatic melanoma and disease progression following ipilimumab and, if BRAF V600 mutation positive, a BRAF inhibitor. Approval was based on a clinically meaningful, durable objective response rate (ORR) in a non-comparative analysis of 120 patients who received 3 mg/kg of nivolumab" - pmids: - - "28087644" - - text: These data suggest that BRAF V600E can predict the regrowth rate of brainstem gangliogliomas after microsurgery - pmids: - - "28986151" - - text: Frequency of BRAF(V600E) mutation was similar in prepubertal and pubertal patients. BRAF(V600E) mutation was found in 14/56 (25%) patients and was high in the classic variant papillary thyroid cancer - pmids: - - "28077340" - - text: KRAS and BRAF mutations are negatively associated with overall and relapse-free survival in patients who undergo complete liver resection for colorectal cancer liver metastases - pmids: - - "28216246" - - text: "The present case series suggests that the incidence of concomitant KRAS/BRAF mutations in patients with surgically treated colorectal liver metastasis may be higher than previously hypothesized, and associated with more variable survival outcomes than expected." - pmids: - - "29715113" - - text: We report acquisition of a BRAF fusion as a novel mechanism of acquired resistance to vemurafenib in a patient with melanoma harboring a BRAF(V600E) mutation. - pmids: - - "28539463" - - text: analysis of BRAF genetic alterations among the histologic variants of papillary thyroid carcinoma in Korea - pmids: - - "28293988" - - text: "In lung adenocarcinomas, BRAF mutations tended to occur in former or current smokers, and BRAF V600E mutations are more common in females. The histologic grade and architecture of these tumors varied significantly in both cytology and histology material, from well to poorly differentiated." - pmids: - - "29320776" - - text: "This study identified two mechanistic subtypes of melanoma: (1) the best responders to clinical BRAF/MEK inhibitors (25%) and (2) nonresponders due to primary resistance mechanisms (9.9%). We identified robust biomarkers that can detect these subtypes in patient samples and predict clinical outcome" - pmids: - - "28455392" - - text: the predictive value of BRAF mutation for central lymph node metastasis in papillary thyroid carcinoma was found to be related to the tumor size. - pmids: - - "26268700" - - text: "Clinical and morphological data and the results of molecular genetic studies led to the conclusion that there was eosinophilic granuloma of the right parietal bone (the unifocal form of Langerhans cell histiocytosis (LCH), type I, group A1, with the monoossal nature of lesion and with BRAFV600E mutation)." - pmids: - - "28791997" - - text: mutations were detected in 8 of the 18 adult Langerhans cell histiocytosis patients analysed. - pmids: - - "28421232" - - text: "Real-time PCR and pyrosequencing methods were equally excellent in determination of BRAF V600 mutations. The immunohistochemistry method, which is commonly used in routine pathology practice, can also be safely used as a screening test for determination of BRAF V600 mutations." - pmids: - - "28216139" - - text: The B-Raf inhibitor PLX4032 induces DR5 upregulation exclusively in Ras-mutant cancer cells; this effect is dependent on Ras/c-Raf/MEK/ERK signaling activation. - pmids: - - "27222248" - - text: RNA sequencing identified in both an AKAP9-BRAF gene fusion - pmids: - - "29464327" - - text: "a new somatic BRAF splicing mutation, was identified." - pmids: - - "28679432" - - text: RAS-ERK signaling in BRAF mutant melanomas is critical for regulating active chromatin state and recruitment of RNA polymerase II at mutant TERT promoters. Our study provides evidence that the mutant TERT promoter is a key substrate downstream of the RAS-ERK pathway. - pmids: - - "27911794" - - text: the presence of the BRAF (V600E) mutation may be negatively correlated with partial aggressive clinicopathological features of pediatric papillary thyroid cancer (PTC). - pmids: - - "28646474" - - text: "Vemurafenib, inhibiting BRAF signaling, shifted the balance of activatory and inhibitory NK ligands on melanoma cells and displayed immunoregulatory effects on NK-cell functional activities" - pmids: - - "28576831" - - text: We have found a higher incidence of axLN metastases in BRAF mutated NSCLC patients than described in non-BRAF mutated NSCLC patients. Examination of the axilla should be a routine part of physical examination in this genetically distinct subgroup of lung cancer patients. - pmids: - - "28625649" - - text: "Braf mutations served as biomarkers for response to anti-EGFR monoclonal antibodies in colorectal cancer.[review]" - pmids: - - "28576857" - - text: "BRAF mutation, rather than KRAS, was a significant prognostic factor in Korean colorectal cancer patients at both early and advanced stages." - pmids: - - "28583095" - - text: "The lack of KRAS, NRAS, BRAF, and PIK3CA mutation in our study may suggest that a subset of eyelid sebaceous carcinomas is unlike that of eyelid sebaceous carcinomas of western countries." - pmids: - - "28551389" - - text: "We show that rosiglitazone increases klotho and decreases Wnt5A in tumor cells, reducing the burden of both BRAF inhibitor-sensitive and BRAF inhibitor-resistant tumors in aged, but not young mice. However, when used in combination with PLX4720, tumor burden was reduced in both young and aged mice, even in resistant tumors" - pmids: - - "28232477" - - text: "A pointmutation located in exon 5 of the TP53 gene and a point mutation in exon 15 of the BRAF gene (c.1799T>A, V600E) were detected in an anaplastic thyroid carcinoma patient" - pmids: - - "27532222" - - text: "Authors tested the mutation-specific BRAF V600E monoclonal antibody (clone VE1) in formalin-fixed, paraffin-embedded LCH samples from 26 pediatric patients using allele-specific real-time polymerase chain reaction (PCR) with a limit of detection of 0.5% as the comparative gold standard." - pmids: - - "28219109" - - text: "KRAS mutations were rarely found together and those in codons 12 and 13 conferred poor prognosis. For BRAF, more c.1781A>G (p.D594G) colorectal cancers (CRC)carried RAS mutations [14% (3/21)] compared with c.1799T>A (p.V600E) CRCs.For NRAS, 5% (3/60) of codon 61 mutant colorectal cancers had KRAS mutations compared with 44% (10/23) of codons 12 and 13 mutant colorectal cancers" - pmids: - - "27815357" - - text: "Results indicate that in addition to being present in established BRAF-associated gliomas, BRAF mutations might be associated with epithelial features in high-grade gliomas, including sheet-like arrangement of polygonal tumor cells with a plump cytoplasm and astroblastic rosettes, and thus could potentially serve as a genetic marker for these features." - pmids: - - "27792249" - - text: the present study identifies the WIPF1 gene as having novel oncogenic functions and playing an important role in the invasiveness and aggressiveness of thyroid cancer when aberrantly up-regulated by the BRAF V600E/MAPK pathway through its promoter demethylation. - pmids: - - "27863429" - - text: BRAF mutation is associated with colonic neuroendocrine carcinoma. - pmids: - - "28940307" - - text: "c-Myc, a downstream key effector of BRAF(V600E) signaling, was required for BRAF(V600E)-induced changes in lysine27-trimethylated histone H3 through regulating the components of the polycomb repressive complex 2 (PRC2) genes Ezh2, Suz12 and Jarid2 at both transcriptional levels via direct binding to their regulatory elements and post-transcriptional levels via repressing the miR-26a, miR-200b and miR-155." - pmids: - - "28656062" - - text: Data show that depletion of SRY (sex determining region Y)-box 10 protein (SOX10) sensitizes mutant proto-oncogene proteins B-raf (BRAF) melanoma cells to RAF inhibitors in vitro and in vivo. - pmids: - - "29295999" - - text: mutations and expression might serve as independent adverse prognostic factors in melanoma - pmids: - - "29505523" - - text: "A panRAF inhibitor, LY3009120, potently inhibited proliferation and tumor growth in BRAF/KRAS mutated colorectal tumors." - pmids: - - "27999210" - - text: "In the coBRIM phase III trial, the addition of cobimetinib, an MEK inhibitor, to vemurafenib, a BRAF inhibitor, significantly improved progression-free survival [hazard ratio (HR), 0.58; P < 0.0001] and overall survival (HR, 0.70; P = 0.005) in advanced BRAF-mutated melanoma. Here, we report on the incidence, course, and management of key adverse events (AEs) in the coBRIM study" - pmids: - - "28444112" - - text: Report heterogeneity and frequency of BRAF mutations in primary melanoma samples. - pmids: - - "28039443" - - text: "Using a panel of BRAF V600E and WT colorectal cancer cell lines and in vitro selected resistant culture, and xenograft models, authors demonstrate here that BRAFV600E confers resistance to mTOR inhibitors." - pmids: - - "27351224" - - text: "Our model is trained to mimic the predictions of a 64-gene signature, the current definition of BRAF-positive group." - pmids: - - "28523274" - - text: "pediatric papillary thyroid carcinomas in Japan are characterized by more advanced clinicopathological features, lower BRAF (V600E) frequency, and absence of TERT mutation" - pmids: - - "28176151" - - text: CSF tumor-derived cell-free DNA has the potential to serve as a diagnostic tool in patients with BRAFV600 mutated malignancies. - pmids: - - "27863426" - - text: BRAF mutation is associated with response to chemotherapy in lung cancer. - pmids: - - "27165943" - - text: Mutation analysis Iindicate NRAS as the most commonly mutated gene in myeloma patients followed by KRAS ( and BRAF. - pmids: - - "27634910" - - text: Co-targeting translation and proteasome using the combination of Episilvestrol and Bortezomib promoted strong endoplasmic reticulum stress and rapid killing of colon cancer cells with KRAS/BRAF mutations. - pmids: - - "28030835" - - text: "Report targeted analysis of KRAS, BRAF and PIK3CA mutations in circulating tumor cells captured by a label-free platform and compare to expression in primary tumor tissue and metastases." - pmids: - - "27863403" - - text: "A rapid monophyletic evolution of melanoma subpopulations in response to targeted therapy that was not observed in non-targeted therapy was observed. NRAS mutations in BRAF mutated patient treated with a BRAF inhibitor were identified post-resistant samples. Sequence analysis showed that NRAS mutations co-occur with BRAF mutations in single cells, and are not mutually exclusive." - pmids: - - "27791198" - - text: "By shedding light on the repertoire of BRAF mRNA and protein variants, and on the complex regulation of their expression, our work paves the way to a deeper understanding of a crucially important player in human cancer and to a more informed development of new therapeutic strategies" - pmids: - - "28454577" - - text: This multicenter data analysis establishes a six-genotype genetic prognostic model for poor outcomes of papillary thyroid cancer with a risk order of genetic duet of BRAF V600E/RAS mutation and TERT mutation >>>>BRAF V600E = TERT mutation alone >RAS mutation alone = wild-type genes. - pmids: - - "27875244" - - text: "Despite a significant prevalence of BRAF mutation, more than 70% of hobnail variant of papillary thyroid carcinomas (HPTCs) in our series showed concurrent mutations of other genes such as TP53, PIK3CA, CTNNB1 and hTERT, in contrast to classic PTC." - pmids: - - "28062544" - - text: Mutational activation of BRAF confers sensitivity to TGFBR1 inhibitors in human melanoma cells. - pmids: - - "27835901" - - text: One way to potentially improve adoptive T cell therapy is to combine it with the administration of small molecule inhibitors. Vemurafenib specifically inhibits mutated BRAFV600E/K molecules and directs cell death of BRAFV600E/K expressing tumors - pmids: - - "28093487" - - text: "miR-579-3p controls melanoma progression and resistance to target therapy by targeting the 3'UTR of two oncoproteins: BRAF and MDM2." - pmids: - - "27503895" - - text: Durable (>/=3 years) survival is achievable with dabrafenib plus trametinib in patients with BRAF V600-mutant metastatic melanoma - pmids: - - "28475671" - - text: A high extent more than 25% of BRAF(V600E) alleles may be associated with disease outcome in PTC patients. - pmids: - - "27865374" - - text: "Study found that high expression of LC3B protein was associated with the presence of BRAF V600E mutation and temporal lesion in glioneuronal tumors, as well as in gangliogliomas alone. As for Beclin-1 protein, it showed statistically significant correlation with BRAF V600E mutation in glioneuronal tumors." - pmids: - - "28667867" - - text: We suggest that BRAF mutant patients should not be considered as having a unique biology and provide an in depth characterization of heterogeneous motifs that may be exploited for drug targeting. - pmids: - - "27354468" - - text: strong correlation between the presence of circulating V600 mutated DNA and overall survival of melanoma patients - pmids: - - "27194447" - - text: "The results establish a link between BRAF(V600E) and NOX4, which is confirmed by a comparative analysis of NOX4 expression in human (TCGA) and mouse thyroid cancers." - pmids: - - "27401113" - - text: PD-L1 expression in colorectal cancer is associated with microsatellite instability and BRAF mutations. - pmids: - - "27198569" - - text: Results indicate that MAPK pathway inhibition leads to changes in the immunological properties of mutant BRAF melanoma cells. - pmids: - - "26974965" - - text: Results show that promoter mutations render telomerase reverse transcriptase (TERT) expression dependent on MAPK signal pathway activation due to oncogenic BRAF or NRAS mutations. - pmids: - - "27449293" - - text: "Of these 6 patients, 3 had a BRAF mutation positive primary with a BRAF mutation negative metastatic lesion, while the other 3 had a BRAF mutation negative primary with BRAF mutation positive metastasis.There is an important discordance rate in the BRAF mutation status of melanoma primaries versus brain metastases." - pmids: - - "29310328" - - text: BRAFV600E mutations were associated with younger patient age and localization of melanoma on sun-protected areas of the skin. - pmids: - - "27433783" - - text: The BRAF V600 mutations were significantly associated with AQP1 expression (P=0.014). Long-term follow-up indicated a reduced progression-free survival (P=0.036) and overall survival (P=0.017) for the AQP1-positive cutaneous melanoma patients. - pmids: - - "26848795" - - text: "This study demonstrates that idiopathic pulmonary fibrosis-associated lung cancer (IPF-LC) is genetically characterized by the presence of somatic mutations reflecting a variety of environmental exposures on the background of specific germline mutations, and is associated with potentially targetable alterations such as BRAF mutations." - pmids: - - "28862766" - - text: "Study found that BRAF alterations are frequent in dysembryoplastic neuroepithelial tumors (DNTs), particularly BRAF copy number gain which is being reported for the first time in these tumors. Evidence of activation of mTOR and MAPK pathways suggests a role for altered signalling in DNT pathogenesis." - pmids: - - "27599148" - - text: Mutations in KRAS and BRAF were associated with inferior PFS and OS of mCRC patients compared with patients with non-mutated tumors. KRAS exon 2 mutation variants were associated with heterogeneous outcome compared with unmutated tumors with KRAS G12C and G13D (trend) being associated with rather poor survival - pmids: - - "27358379" - - text: The BRAF/MAP2K1-mut LCH cells had a more immature state than BRAF/MAP2K1-wt LCH cells. Authors also found the BRAFV600E and MAP2K1 mutations were significantly associated with pERK expression. - pmids: - - "27597420" - - text: Association of the Bethesda category with BRAF mutation can slightly improve the value of stage prediction in papillary thyroid cancer. - pmids: - - "28160058" - - text: "The results demonstrated the lack of activity of anti-EGFRs in RAS(KRAS and NRAS) and BRAF wild-type, right-sided tumors, thus suggesting a potential role for primary tumor location in driving treatment choices" - pmids: - - "27382031" - - text: "Findings of recurrent BRAF gene rearrangements in spindle cell sarcomas showing morphologic overlap with infantile fibrosarcomas expand the genetic spectrum of fusion-positive spindle cell sarcomas, to include unusual presentations, such as older children and adolescents and predilection for axial location." - pmids: - - "28877062" - - text: "Data show that long noncoding RNA RMEL3 is required for MAPK and PI3K signaling, and its knockdown decrease BRAFV600E melanoma cell survival and proliferation." - pmids: - - "27167340" - - text: "Data show that 514 of 1170 patients (44%) carried a BRAF mutation, and all models indicated age and histological subtype of melanoma as the two major predictive variables." - pmids: - - "27150060" - - text: Data indicate that BRAF inhibitor (BRAFi) have unique paradoxical ERK activation profiles. - pmids: - - "27028853" - - text: "these data highlight the poor prognosis of patients with metastatic melanoma and BM, despite a targetable 'driver' oncogene mutation(BRAFv600) and evidence of initial drug-responsiveness" - pmids: - - "27993793" - - text: BRAF-mutant advanced colorectal cancer ( aCRC) confers a markedly worse prognosis independent of associated clinicopathological features. Chemotherapy provides meaningful improvements in outcome throughout treatment lines. Post-progression survival is markedly worse and vigilance is required to ensure appropriate delivery of treatment after first-line progression - pmids: - - "27993800" - - text: "Case Reports: pediatric intracranial and cranial juvenile xanthogranuloma with BRAF V600E mutations." - pmids: - - "28504206" - - text: "Data indicate that BRAF, NRAS and C-KIT melanomas constitute distinct clinico-pathological entities." - pmids: - - "29187493" - - text: "Mutant BRAF may, in part, drive the histologic progression of colorectal adenomas toward serrated histology" - pmids: - - "26910894" - - text: "Case Reports: two cases of gliosarcoma harbouring the BRAF V600E mutation, of which one case appears to have arisen de novo, while the other likely arose from ganglioglioma." - pmids: - - "28775171" - - text: MC1R genotype is associated with patient phenotypes with BRAF and NRAS mutations in melanoma - pmids: - - "28842324" - - text: "Our data suggest that KRAS, NRAS, and BRAF mutations predict response to cetuximab treatment in metastatic colorectal cancer patients." - pmids: - - "26989027" - - text: "Tumor cell content was not associated with mutational rate for EGFR, BRAF and HER2 mutations. DNA quantity was not associated with mutational rate for EGFR, KRAS, BRAF and HER2" - pmids: - - "29175303" - - text: This study is the first to describe the BRAF (L597Q) mutation in malignant peripheral nerve sheath tumors and the first to implicate a BRAF mutation in neurofibroma biology - pmids: - - "29162506" - - text: DiRas3 binds to KSR1 independently of its interaction with activated Ras and RAF. - pmids: - - "27368419" - - text: "Combination BRAF and MEK inhibition has also been shown to improve overall survival in patients with V600E-mutated melanoma. Responses to therapy are often rapid, and treatment is not associated with immune-related adverse events." - pmids: - - "28561662" - - text: "BRAF mutations in the genomic DNA extracted from cancer cell lines were tested, allowing sensitive detection of SNM at very low abundances" - pmids: - - "28319896" - - text: "Study provides evidence of BRAF-KIAA fusion in disseminated glioneuronal lesions occurring in childhood and the first report of a BRAF V600E mutation in children with this disease, representing a potential therapeutic target." - pmids: - - "26994902" - - text: we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. - pmids: - - "28650561" - - text: Data suggest that activation of the metalloproteinase ADAM10 by signal peptide peptidase-like 3 (SPPL3) triggered by mutant BRAF(V600E) was a critical transformation event. - pmids: - - "28292959" - - text: These results provide support for the role of BRAF(V600E) in metastasis. - pmids: - - "27210749" - - text: Acquired BRAF V600E Mutation is associated with resistance to osimertinib in lung cancer. - pmids: - - "27923714" - - text: "FZR1 inhibits BRAF oncogenic functions via both APC-dependent proteolysis and APC-independent disruption of BRAF dimers, whereas hyperactivated ERK and CDK4 reciprocally suppress APC(FZR1) E3 ligase activity" - pmids: - - "28174173" - - text: BRAF mutation is associated with melanoma. - pmids: - - "28822769" - - text: "Mutations in KRAS, NRAS, and BRAF together occur in more than half of all colorectal cancer cases and are often associated with negative responses to the EGFR inhibitors cetuximab and panitumumab.guideline is clear that we should not be giving EGFR inhibitors to patients with RAS mutations and that patients with BRAF V600E mutations have a much worse prognosis" - pmids: - - "28249840" - - text: These findings identify a dynamic interplay between FZR1 and BRAF with strong implications for cell-fate determination and the tumor suppressor role of FZR1 - pmids: - - "28373167" - - text: KIT knockdown increased RAS/MAPK pathway activation in a BRAF(V600E)-mutant melanoma cell line. - pmids: - - "28947418" - - text: "Although BRAF(non-V600E) mutations identified were a rare and unestablished molecular subtype, certain BRAF(non-V600E) mutations might contribute to a lesser benefit of anti-EGFR monoclonal antibody treatment in patients with metastatic colorectal cancer" - pmids: - - "28972961" - - text: ARMC10-BRAF fusion is associated with melanoma. - pmids: - - "27864876" - - text: "BRAF gene mutation is confirmed by several studies found in malignant melanoma of the skin. The histopathology findings in our group did not confirmed our theory, that since the uveal melanoma itself has the similar origin as skin melanoma, should also contain a BRAF mutation." - pmids: - - "27860480" - - text: BRAF mutation is not associated with response to chemotherapy in Melanoma. - pmids: - - "28002643" - - text: the rate of BRAF mutation in Irish cohort (28.8%) was lower than international published rates of 40%-60%. - pmids: - - "28424234" - - text: Study identified BRAF mutations in 1.7% of Chinese patients with non-small-cell lung cancer and seems associated with adenocarcinoma. - pmids: - - "28135039" - - text: "MET amplification is here identified-clinically and preclinically-as a new mechanism of resistance to EGFR and BRAF dual/triple block combinations in BRAF-mutated colorectal cancer. Switching from EGFR to MET inhibition, while maintaining BRAF inhibition, resulted in clinical benefit after the occurrence of MET-driven acquired resistance." - pmids: - - "27325282" - - text: BRAF rearrangements were only found in myxoinflammatory fibroblastic sarcomas but not in hemosiderotic fibrolipomatous tumor lacking TGFBR3-MGEA5 fusions. - pmids: - - "28692601" - - text: "BRAF V600E mutation was detected in 6% of glomus tumors, all of which were malignant or glomus tumors of uncertain malignant potential. This mutation may be associated with a malignant phenotype." - pmids: - - "28834810" - - text: Adenocarcinomas or adenomas derived from pigmented ciliary epithelium is distinguished from uveal melanoma by the absence of SOX10 expression and presence of the BRAF V600E mutation. - pmids: - - "29059311" - - text: somatic KRAS mutations in polyps represent a potential molecular marker for the risk of developing advanced neoplasia - pmids: - - "28953955" - - text: This study is the first to report BRAF mutations in a pure adult sample of differentiated thyroid cancer of Saudi Arabian ethnicity. - pmids: - - "27387551" - - text: "No significant impact on prognosis was observed for mutated KRAS, NRAS, and PIK3CA genes or combined RAS mutations" - pmids: - - "27737711" - - text: BRAF mutations were not associated with an elevated risk for distant metastasis. - pmids: - - "29037127" - - text: ZNF767-BRAF fusion is associated with mucosal melanomas. - pmids: - - "28092667" - - text: "The expression of the nuclear and cytoplasmic forms of p16 represent two independent mechanisms, and both seemed to control proliferation in response to oncogenic stimuli, protecting the cell from malignant transformation in BRAF-mutated gastrointestinal stromal tumors." - pmids: - - "28034324" - - text: BRAF mutation is associated with papillary thyroid carcinoma. - pmids: - - "28423545" - - text: BRAF mutation was found to be associated with lymph node metastasis as first metastasis and sentinel lymph node positivity. BRAF and NRAS mutations were associated with CNS and liver metastasis and NRAS mutation with lung metastasis. - pmids: - - "28787433" - - text: BRAFV600E mutation is associated with astroblastoma. - pmids: - - "27416954" - - text: The association of BRAF mutations with clinical and pathological features was assessed next in a cohort of 840 KRAS exon 2 wild type CRC patients screened with the Real Time PCR assay. - pmids: - - "27261210" - - text: Bromodomain and extra-terminal (BET) inhibitors can suppress growth of BRAF-mutant colon cancer cells via repression of MAPK signaling pathway. - pmids: - - "28576751" - - text: findings should encourage the genetic evaluation of BRAF mutation. This study highlights the potential of RCM as a supplementary tool in the screening of BRAF-mutated melanomas - pmids: - - "28662062" - - text: Increased plasma membrane abundance of PMCA4b in vemurafenib-treated BRAF mutant cells is associated with enhanced Ca2+ clearance. - pmids: - - "27813079" - - text: Data indicate the role of immunohistochemical BRAF V600E expression in patients at the time of progression. - pmids: - - "27863476" - - text: "BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology of low-grade neuroepithelial tumors" - pmids: - - "26810070" - - text: "In this report, we describe a 35-year-old female who presented with multifocal ganglioglioma, involving both the conus medullaris and filum terminale. The dominant lesion in the filum terminale was resected, which revealed World Health Organization I grade, p53 mutant, and BRAF wildtype status" - pmids: - - "27671879" - - text: Studies indicate the clinical importance of BRAF-V600 mutations and BRAF inhibition in the progression to melanoma brain metastasis. - pmids: - - "27342756" - - text: IRP2 expression was associated with mutations in BRAF. - pmids: - - "28281325" - - text: "BRAF mutations were present in 44.6% of primary papillary thyroid carcinomas, 41.7% of lymph node metastasis, and 23.8% of distant metastasis." - pmids: - - "28323937" - - text: Mutation in BRAF gene is associated with Pancreatic Ductal Adenocarcinoma. - pmids: - - "28810144" - - text: "Patients with BRAF V600E PLGG exhibited poor outcomes after chemotherapy and radiation therapies that resulted in a 10-year progression-free survival of 27% (95% CI, 12.1% to 41.9%) and 60.2% (95% CI, 53.3% to 67.1%) for BRAF V600E and wild-type PLGG, respectively ( P < .001)." - pmids: - - "28727518" - - text: RNF43 germline and somatic mutation in Serrated Neoplasia pathway associated with BRAF mutation. - pmids: - - "27329244" - - text: a new BRAF fusion in pilocytic astrocytoma - pmids: - - "28448514" - - text: BRAF V600E mutation in capsular nevi of sentinel lymph nodes may be useful as an adverse predictive biomarker in patients with melanoma. - pmids: - - "27666765" - - text: Data show that combined therapy using HER2 inhibitor and BRAF/MEK inhibitor presented more significant redifferentiation effect on papillary thyroid cancer cells harboring BRAFV600E than BRAF/MEK inhibitor alone. - pmids: - - "28423638" - - text: "BRAF V600E mutations wereencountered in most metanephric stromal tumors, supporting a link with other metanephric tumors and suggesting a clonal event possibly affecting primordial renal cells." - pmids: - - "27769870" - - text: These findings identify a key mechanism of tolerance to Ras-Raf pathway inhibitors and suggest that blocking either AMPK or autophagy in combination with these targeted inhibitors could increase tumor regression and decrease the likelihood of eventual recurrence. - pmids: - - "27041569" - - text: Desmoplastic infantile astrocytoma/ganglioglioma with rare BRAF V600D mutation - pmids: - - "27860162" - - text: The results show that BRAF mutations are associated with a worse prognosis than expected in patients treated with FOLFIRI protocol plus bevacizumab compared with the BRAF wild-type population. - pmids: - - "28463756" - - text: We found a clinically meaningful discrepancy rate in BRAF status both between primary-metastatic and metastatic-metastatic melanoma lesions. - pmids: - - "28623774" - - text: Hypoxic postconditioning attenuates apoptosis via inactivation of adenosine A2a receptor through NDRG3-Raf-ERK pathway. - pmids: - - "28743501" - - text: Increased staining for phosphorylated ERK1/2 does not correlate to BRAF or KRAS mutations in colorectal neoplasms. - pmids: - - "27036313" - - text: "Our purpose was the evaluation of microsatellite stability status within conventional colon adenomas and also b-catenin, BRAFV600E and p53 contribution.we noted a 10% frequency of MSI events where MSI-H reached a 5% share occurred within the left colon and rectal polyps. b-catenin nuclear overexpression was noted with a 70% frequency and p53 with close to a 24% frequency." - pmids: - - "28234922" - - text: "Mutant BRAF represses E-cadherin expression, implicating a catalytic role for BRAF in epithelial-mesenchymal transition." - pmids: - - "26980024" - - text: "There was no statistically significant association between BRAF or MAP2K1 mutation and anatomic site, unifocal versus multifocal presentation, or clinical outcome in Langerhans cell histiocytosis." - pmids: - - "26980021" - - text: "Our data show that Signet ring cell colorectal cancer (SRCCa) phenotype comprises two distinct genotypes. The MSI(+)/CIMP(+)/BRAF V600E(+)/CD3(+)/PDL1(+) hypermethylated genotype is an ideal candidate for immune checkpoint inhibitor therapy. In addition, one fourth of SRCCa cases can potentially be targeted by KIT inhibitors." - pmids: - - "28595259" - - text: "Short-term treatment of nascent melanoma tumors with PAK inhibitors that block RhoJ signaling halts the growth of BRAF mutant melanoma tumors in vivo and induces apoptosis in melanoma cells in vitro via a BAD-dependent mechanism. As up to 50% of BRAF mutant human melanomas express high levels of RhoJ, these studies nominate the RhoJ-BAD signaling network as a therapeutic vulnerability for fledgling BRAF mutant human tumor" - pmids: - - "28753606" - - text: "Despite a high specificity for thyroid cancer, BRAF(V600E) mutation has a low overall sensitivity and therefore has a limited diagnostic value as a single screening test." - pmids: - - "27923591" - - text: "Aspirin use after colon cancer diagnosis was associated with improved overall survival in wild-type BRAF tumors. In contrast, aspirin use in BRAF mutated tumors was not associated with an improved survival." - pmids: - - "28125730" - - text: Alternative pathways through mutations in BRAF gene are associated with the progression of Colorectal polyps to cancer and may provide insights into the genetic characteristics of skirts. - pmids: - - "26808395" - - text: "Compared with newly diagnosed multiple myeloma, an increased prevalence of mutations in the Ras pathway genes KRAS, NRAS, and/or BRAF (72%), as well as TP53 (26%), CRBN (12%), and CRBN pathway genes (10%) was observed." - pmids: - - "27458004" - - text: IFNgamma inhibits CXCL8 secretion and in turn the migration of a BRAF V600e mutated thyroid cell line - pmids: - - "27555670" - - text: "Cdc37 performs a quality control of protein kinases, including b-raf, where induced conformational instability acts as a \"flag\" for Hsp90 dependence and stable cochaperone association." - pmids: - - "27105117" - - text: "The BRAF V600E mutation is now recognized as the causal genetic event of hairy cell leukemia because it is somatic, present in the entire tumor clone, detectable in almost all cases at diagnosis (encompassing the whole disease spectrum), and stable at relapse." - pmids: - - "27554081" - - text: Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis - pmids: - - "27729324" - - text: Angiogenic/cachectic and pro-inflammatory/immune response factors could play a crucial role in BRAF(V600E)-positive human anaplastic thyroid carcinoma aggressiveness. - pmids: - - "26189429" - - text: Morphometric variables are predictive markers for papillary thyroid carcinoma cases with positivity for BRAF V600 mutation. - pmids: - - "27911099" - - text: found that BRAF genotyping in weakly and moderately pigmented samples was more efficient when the sample was processed with BSA or purified with a NucleoSpin(R) gDNA Clean-up XS Kit prior to PCR amplification - pmids: - - "27466810" - - text: "BRAF or KRAS mutations are independently associated with shorter time to recurrence, shorter survival after relapse, and overall survival in patients with microsatellite-stable (MSS) subgroups, but not microsatellite-unstable tumors." - pmids: - - "28040692" - - text: "The BRAFV600E antibody (clone VE1) IHC may show non-specific staining, but molecular assays may be useful for the diagnosis of unicystic ameloblastoma, in conjunction with clinical, radiological and histopathological features." - pmids: - - "27084044" - - text: "Spitzoid neoplasms with BRAF fusion cases were most likely to have high-grade nuclear atypia, to be diagnosed as spitzoid melanoma, to have a positive result by melanoma fluorescence in situ hybridization assay, and to develop copy number gains in the kinase domain of the fusion protein." - pmids: - - "27776007" - - text: investigation of MGMT promoter methylation and in particular BRAF V600E mutations represent reliable additional tools to sustain differentiation of Giant Cell Glioblastoma (gcGBM) from Pleomorphic Xanthoastrocytoma (PXA) on a molecular basis. Based on these data specific BRAF kinase inhibitors could represent a promising agent in the therapy of PXA and their use should be emphasized. - pmids: - - "27253461" - - text: "these results suggest that SIRT6 enhances cell aggressiveness in PTC via BRAF/ERK/Mcl1 pathway, and thus may be a promising target in the treatment of the disease." - pmids: - - "28393212" - - text: Immunohistochemistry is an accurate method to evaluate BRAF proto-oncogene is papillary thyroid cancer. - pmids: - - "27919446" - - text: BRAF-positive thyroid cancers most often demonstrate worrisome sonographic features and are frequently associated with positive or suspicious Bethesda cytology. - pmids: - - "27689252" - - text: "Study of four cases confirms BRAF V600E mutation as a probable driver in a subset of ciliated muconodular papillary tumors (CMPT) of the lung, along with AKT1 mutation, which further supports that CMPT are indolent pulmonary neoplasms." - pmids: - - "27454941" - - text: BRAF protein mutation in metastatic lymph nodes maybe responsible for the recurrence of papillary thyroid carcinoma. - pmids: - - "27866718" - - text: These findings reveal a signaling basis underlying a pathogenic role of dietary fat in BRAF V600E-expressing melanoma. - pmids: - - "28089569" - - text: "Extrathyroid invasion, lymph node metastases, and BRAFV600E mutation were the high risk factors of papillary thyroid microcarcinoma." - pmids: - - "27936049" - - text: Our study provides a rationale to strengthen NK cell immunotherapy through a combination with cetuximab for RAS and BRAF mutant mCRC patients. - pmids: - - "27314237" - - text: BRAF mutation was significantly related with shorter DFS and OS among stage II/III CRC patients receiving adjuvant chemotherapy after curative resection - pmids: - - "27138801" - - text: Data suggest that HMGCS1 (HMG-CoA synthase 1) signals through ketogenesis/acetoacetate to promote cell proliferation and BRAF(V600E)-dependent MEK1 activation in BRAF(V600E)-positive melanoma and colon cancer cells; HMGCS1 co-localizes with HMGCL (HMG-CoA lyase) and BRAF(V600E) in cytosol of melanoma and colon cancer cells. (BRAF = proto-oncogene protein B-raf) - pmids: - - "28468827" - - text: "Thus, the quaternary structure of BRAF complexes is shaped by its activation status, the conformation of its kinase domain, and clinically relevant inhibitors." - pmids: - - "28093501" - - text: "A BRAF mutation, p.Val600Ala, was identified in 1 of 8,000 peripheral blood lymphocytes and 1 of 6,000 T lymphocytes from rheumatoid arthritis patients and in 1 of 12,500 peripheral blood lymphocytes and 1 of 12,500 T lymphocytes from controls" - pmids: - - "26814611" - - text: Results indicate that MLH1-hypermethylated BRAF wild-type colorectal carcinomas can harbor KRAS mutations and arise from precursor polyps resembling conventional tubular/tubulovillous adenomas. - pmids: - - "27438990" - - text: "The patients with traditional serrated adenoma showed KRAS and BRAF mutations in 58.4 and 8.3% of cases, respectively. Mutations of these genes were absent. The study revealed that the subtypes of serrated adenomas substantially differ by sex, age, localization, and molecular genetic characteristics" - pmids: - - "28295004" - - text: r-BRAF are very uncommon in papillary thyroid carcinomas (PTC) and are found almost exclusively in PTC with low-risk clinicopathological features. - pmids: - - "27571181" - - text: "(V600)BRAF switches on a metabolic reprogramming in melanoma cells, leading to a decreased OXPHOS activity and increased glycolytic ATP, lactate, HIF-1alpha and MCT4 levels." - pmids: - - "27542908" - - text: Data show that the expression of Interleukin-8 (IL-8) and connective tissue growth factor (CTGF) was significantly reduced by treatment with vemurafenib and trametinib in (V600E)BRAF protein melanoma cells. - pmids: - - "28067893" - - text: "The authors find that the interaction between sB-Raf and the Hsp90 chaperone system is based on contacts with the M domain of Hsp90, which contributes in forming the ternary complex with Cdc37 as long as the kinase is not stabilized by nucleotide." - pmids: - - "27620500" - - text: Data show that BRAF inhibitor (BRAFi) treatment failed to affect Nodal protein levels in melanoma tissues. - pmids: - - "27775691" - - text: BRAF V600E mutation is associated with cerebellar pilocytic astrocytoma recurring as a ganglioglioma. - pmids: - - "27718322" - - text: findings suggest an association of BRAF-V600E with parameters of a more aggressive behaviour of ameloblastoma - pmids: - - "27681305" - - text: Dabrafenib showed clinical activity in BRAF(V600E)-positive NSCLC. Our findings suggest that dabrafenib could represent a treatment option for a population of patients with limited therapeutic options - pmids: - - "27080216" - - text: "BRAF(V600E)-mediated MEK/ERK activation can upregulate MCL-1 by phosphorylation/stabilization to confer apoptosis resistance that can be reversed by MCL-1 antagonism combined with cobimetinib, suggesting a novel therapeutic strategy against BRAF(V600E)-mutant CRCs." - pmids: - - "27765849" - - text: "These findings demonstrate that the BRAF V600E mutation down-regulates levels of HMGB1, likely through activation of the mitogen-activated protein kinase (MAPK) signaling pathways." - pmids: - - "28342873" - - text: "Compared to some Asian populations, this study of Filipino papillary thyroid carcinoma patients shows a lower prevalence of BRAF V600E mutation" - pmids: - - "27568671" - - text: ndings indicate that BRAF V600E is not a consistent squarending in myopericytoma and does not serve as a useful diagnostic immunohistochemistry marker - pmids: - - "27870159" - - text: "ytoplasmic immunoexpression of BRAF V600E (VE1) protein was found in three specimens: serous superficial papilloma, serous papillary cystadenoma of borderline malignancy, and partially proliferative serous cystadenoma" - pmids: - - "28488545" - - text: BRAF mutation subclonality was associated with earlier disease stage in Papillary Thyroid Carcinoma. - pmids: - - "26835544" - - text: BRAF mutation is associated with melanoma. - pmids: - - "28268064" - - text: BRAF(V600)-mutation is associated with melanoma. - pmids: - - "27480103" - - text: BRAF(V600E)-mutation is associated with metastatic non-small cell lung cancer. - pmids: - - "27283860" - - text: "in response to vemurafenib, BRAF-mutated melanoma and colorectal cancer cells rapidly induced the ISR as a cytoprotective mechanism through activation of general control nonderepressible 2 (GCN2), an eIF2alpha kinase sensing amino acid levels" - pmids: - - "27965097" - - text: "This review highlights treatment options, including clinical trials for ROS1 rearrangement, RET fusions, NTRK1 fusions, MET exon skipping, BRAF mutations, and KRAS mutations." - pmids: - - "27912827" - - text: Incidence of adverse events was similar regardless of RAS/BRAF status. - pmids: - - "27764839" - - text: "the BRAF pathway is activated in endometriotic cells from patients with endometriosis, and inhibition of the BRAF pathway can significantly decrease proliferation in both epithelial and stromal endometriotic cells in vitro and in vivo" - pmids: - - "27087167" - - text: BRAF(V600)-mutation is associated with papillary thyroid cancer. - pmids: - - "27460442" - - text: BRAF V600E mutation is frequent in pulmonary Langerhans cell histiocytosis. - pmids: - - "28220299" - - text: "our studies show that BRAFNon-V600 mutations are not prognostic for stage IV melanoma patients, and this information will augment the design and interpretation of current and future clinical trials in this patient population." - pmids: - - "27911979" - - text: "Here we review the current knowledge about the classification of this tumor subtype and its association with five key features: mutation status of the BRAF or KRAS genes, the CpG island methylation phenotype, microsatellite instability, immune cell infiltration, and overexpression of GTPase RAC1b" - pmids: - - "27345584" - - text: No relation between oropharyngeal squamous cell carcinomas and BRAF gene mutations - pmids: - - "27888823" - - text: "BRAF mutations were not detected in any of the four IM cases examined. One patient with IM died from metastatic disease: this tumour was disomy 3 with 6p and 8q gains. All other patients were alive with no evidence of metastases at study closure." - pmids: - - "27098748" - - text: "using a kinase-inactive mutant of CK2alpha, that RAF-MEK inhibitor resistance did not rely on CK2alpha kinase catalytic function, and both wild-type and kinase-inactive CK2alpha maintained ERK phosphorylation upon inhibition of BRAF or MEK." - pmids: - - "27226552" - - text: "review focuses on the genes, which are frequently mutated in various cancers and are known to be important in the advance and progression of colorectal cancer and melanoma, namely KRAS, NRAS and BRAF" - pmids: - - "28074351" - - text: Alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- tumors originating via specific molecular pathways including the traditional adenoma-carcinoma pathway but not with BRAF+ tumors originating via the serrated pathway - pmids: - - "27943267" - - text: "BRAFV600E mutation significantly associated with nonsmall cell lung cancer in females and nonsmokers [meta-analysis]" - pmids: - - "28383426" - - text: BRAF mutations are rare events in KIT/PDGFRA wild-type gastrointestinal stromal tumors. - pmids: - - "28159677" - - text: we demonstrate that small molecule PERK inhibitors exhibit single agent efficacy against BrafV600E-dependent tumors highlighting the clinical value of targeting PERK - pmids: - - "27977682" - - text: Point mutations of BRAF is associated with thyroid cancer. - pmids: - - "27535135" - - text: Our findings indicate that BRAF and KRAS mutations as well as mutation heterogeneity predict poor outcome in CRC patients subsequent to liver resections and might help guide treatment decisions. - pmids: - - "26991344" - - text: "Report KRAS, NRAS, PIK3CA, and BRAF mutational profile in poorly differentiated clusters of KRAS-mutated colon cancer may depend on tumor histology." - pmids: - - "28025078" - - text: "BRAF mutations are closely associated with aggressive clinicopathological characteristics and poorer prognosis in papillary thyroid cancer. [meta-analysis]" - pmids: - - "27600854" - - text: functional analysis of human BRaf disease-linked mutations identified BRaf as the key missing signaling effector in the common synaptic NMDA-R-CaMKII-SynGap-Ras-BRaf-MEK-ERK transduction cascade. - pmids: - - "28404629" - - text: BRAF mutation is not associated with pheochromocytoma. - pmids: - - "26710756" - - text: "Mutations in BRAFV600E were significantly associated with worse survival after recurrence (SAR) in patients with recurrent stage III colon cancer, and worse SAR for BRAFV600E or KRAS mutant tumors was more strongly associated with distal cancers." - pmids: - - "28006055" - - text: we identify recurrent somatic BRAF alterations in high-grade colorectal NET and demonstrate rapid clinical improvement and tumor responses with a combination of BRAF- and MEK-directed therapies. - pmids: - - "27048246" - - text: "Findings suggest that the association of HER2 amplification with BRAF(V600E) mutation and telomere shortening may represent a marker of tumor aggressiveness, and, in refractory thyroid cancer, may warrant exploration as a site for targeted therapy." - pmids: - - "27775641" - - text: Braf and Kras genes mutation were reveled in gastritis and adenocarcinoma patients. - pmids: - - "27116958" - - text: High BRAF mutation rate is associated between primary colorectal cancer and corresponding metastases. - pmids: - - "28000889" - - text: The expression levels of BRAFV600E and NF-kappaB were significantly greater in thyroglobuiln antibody-positive than in thyroglobuiln antibody-negative papillary thyroid carcinoma patients. - pmids: - - "28214213" - - text: "BRAF V600E is the predominant mutation in Japanese non-chronically sun-damaged melanoma patients, and that both intra- and inter-tumor mutational heterogeneities exist in primary and metastatic melanomas." - pmids: - - "27771229" - - text: "multiregion analysis was performed in 60 spatially separated tumor areas according to the pathological tumor node metastasis (pTNM) staging and KRAS, NRAS and BRAF mutations were tested using pyrosequencing.these results suggest the need for multiple RAS testing in different parts of the same tumor and/or more sensitive techniques." - pmids: - - "27916952" - - text: BRAF mutations were detected in 54 of 115 (47 %) including 51 of V600E and 3 of V600 K in Japanese melanoma cases. - pmids: - - "27766572" - - text: The BRAFV600E mutation was significantly associated with central lymph node metastases in patients undergoing prophylactic central neck dissection when specifically controlling for preoperatively available clinicopathologic variables in all papillary thyroid cancer subtypes. - pmids: - - "26950846" - - text: "This study demonstrated the presence of BRAF V600E mutation in Chinese epileptic patients with Glioneuronal tumors, which was significantly correlated with gender and multiple seizure types." - pmids: - - "27984807" - - text: The rate of the BRAFV600E mutation increased significantly in papillary thyroid cancer diagnosed in Poland from 2000-2013 - pmids: - - "26889698" - - text: "The prognostic role of BRAF, PIK3CA mutations and ploidy in advanced CRC." - pmids: - - "27033063" - - text: BRAF IHC is strongly concordant with the BRAF mutation test. - pmids: - - "27197524" - - text: "The up-regulation of uPA mRNAs was correlated with high-risk clinicopathological features, including extrathyroid invasion, loss of cellular polarity/cohesiveness, and the BRAF(V600E) mutation." - pmids: - - "25085839" - - text: "The coexistence of BRAF or RAS mutations enhanced the prognostic effects of telomerase reverse transcriptase (TERT) promoter mutations. Furthermore, TERT promoter mutations strengthened the predictions of mortality and recurrence by the ATA and TNM staging systems, particularly for high-risk patients with differentiated thyroid cancer." - pmids: - - "26969876" - - text: Data suggest that genotyping for KRAS and BRAF mutation status is a gold standard for categorizing colorectal cancer (CRC) for clinical decisions. - pmids: - - "28179313" - - text: The BRAF was mutated in 55% (29/53) and NRAS in 11% (5/45) of the primary melanomas sequenced. - pmids: - - "27101548" - - text: Functional Na+/I- symporter activity was higher in BRAF(V600E) mutation-positive cases of classical variant papillary thyroid carcinoma - pmids: - - "27180062" - - text: "Growth arrest is accompanied by MAPK-mediated serine/threonine phosphorylation and suppression of a variety of oncogenic drivers that resist treatment by B-Raf(V600E) kinase inhibitors, including ErbB members, c-Met, IGFR, IRS, STAT3 and Akt." - pmids: - - "26959890" - - text: Erdheim-Chester Disease With Cardiovascular Involvement and BRAF V600E Mutation. - pmids: - - "27296272" - - text: The present cohort identifies that the classic architecture with multicentricity and local recurrence are correlates of BRAF (V600E) harboring pediatric papillary thyroid carcinomas - pmids: - - "26951110" - - text: The BRAF(V)(600E) mutation is also seen in paediatric cytology and the morphological features showed a high accuracy as both predictive mutational parameters and a helpful aid in management mainly of the aggressive BRAF(V)(600E) mutated carcinomas. - pmids: - - "27256275" - - text: The presence of BRAF mutation in fine-needle aspiration cytology specimens of nodular goitre may be useful in the assessment of oncological risk. - pmids: - - "26457492" - - text: The V600E mutation is associated with a risk of transformation to high-grade glioma and poor response to chemoradiation approaches and outcome. - pmids: - - "27659822" - - text: "HRM appears the less sensitive assay for the detection of BRAF V600 mutations. The RT-ASA, IdyllaTM and IHC assays are suitable for routine molecular diagnostics aiming at the prescription of anti-BRAF therapies" - pmids: - - "27111917" - - text: BRAF mutation is associated with thyroid neoplasms. - pmids: - - "26749005" - - text: genome analysis of wild-type gastrointestinal stromal tumors for mutations should include the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors - pmids: - - "27864688" - - text: BRAF mutations occur frequently in testicular germ cell tumors. - pmids: - - "27085458" - - text: "BRAF(V600E) in papillary thyroid cancer predicts an increased risk of lymph node metastasis, extra-thyroidal extension and reduced disease-free survival. It is an additional useful prognostic biomarker." - pmids: - - "27138882" - - text: "Rare mutations in KRAS, NRAS, and BRAF oncogenes have been found in patients with melanoma and colorectal neoplasms." - pmids: - - "28091917" - - text: BRAF mutation and DNA mutation was associated with serrated polyps and hyperplastic polyps in the carcinogenesis of colorectal cancers. - pmids: - - "27930579" - - text: "Our data demonstrate that starvation-trigged autophagy, which is BRAF V600E dependent, promotes cancer cell survival in uveal melanoma. Vemurafenib induces autophagic cell death rather than adaptive cell survival in BRAF V600E-mutant melanoma." - pmids: - - "27928645" - - text: Combination of mutant-specific BRAF and CD117 ICC with cytopathology may facilitate the PTC-risk stratification in thyroid FNAB specimens. - pmids: - - "26240026" - - text: BRAF mutation is correlated with response to therapy in melanoma. - pmids: - - "27147251" - - text: NRAS and BRAF mutations are independent events and alternative molecular mechanisms in the primary oral mucosal melanoma tumorigenesis - pmids: - - "28134726" - - text: BRAF(V600E) mutation is a common genetic change in isolated hypothalamic-pituitary Langerhans cell histiocytosis. - pmids: - - "27760550" - - text: p16 and BRAFV600E are useful to distinguish between sporadic and hereditary (Lynch syndrome-related) microsatellite instable colorectal carcinomas - pmids: - - "27220764" - - text: Japanese patients with sporadic colorectal cancer with BRAF V600E mutation exhibited a significantly shorter overall survival. - pmids: - - "27672042" - - text: "A higher number of suspicious US features classified by the TIRADS, but not the BRAF mutation, are associated with lateral lymph node metastasis in patients with PTC, and can aid in the preoperative identification of patients at increased risk of lateral lymph node metastasis." - pmids: - - "27442672" - - text: "The additive effects given by gamma-secretase inhibitor to BRAF inhibitor are due to enhancement of induction of the senescent-like arrest, which is associated with decreased RB phosphorylation and CDK6 expression." - pmids: - - "27000992" - - text: "study suggests an influence of overweight BMI on the status of BRAF (V600E) in patients with PTC, whereas the underlying mechanism need to be further investigated" - pmids: - - "26733165" - - text: "This study, the largest on TERT mutation so far, demonstrates a significant role of BRAF V600E and TERT promoter mutations in the aggressiveness of papillary thyroid carcinoma, which is particularly robust and cooperative when the two mutations coexist." - pmids: - - "26943032" - - text: "One of the most cited proteins in melanoma is BRAF (about 50-60 % of melanomas harbors activating BRAF mutations), for these the most common is a substitution of valine to glutamic acid at codon 600 (p.V600E)[review]" - pmids: - - "26825657" - - text: "Results are the first to describe the presence of Wnt signaling pathway abnormalities, manifested by nuclear beta-catenin, in a subset, as well as the lack of BRAF(V600E) mutation in gliosarcoma." - pmids: - - "26932501" - - text: "BRAF-mutant lesions are consistently associated with poor prognosis. Consequently, the indications of colorectal liver metastasis resection in this patient group should be reconsidered." - pmids: - - "27630332" - - text: "Driver mutations are rare in mutational hotspots of BRAF, NRAS, KIT, and GNAQ/GNA11 in oral mucosal melanoma." - pmids: - - "26399561" - - text: "colorectal cancers with BRAF D594G mutations are similar to those with BRAF wild-type with regard to clinicopathological features, microsatellite instability status, and prognosis. However, colorectal cancers with BRAF D594G mutations are rare." - pmids: - - "27404270" - - text: KRAS mutations are not Associated with Metastatic Colorectal Cancer. - pmids: - - "26925650" - - text: BRAF mutations are associated with poor response to chemptherapy in Colorectal Peritoneal Carcinomatosis. - pmids: - - "26925640" - - text: "BRAFV600E status during melanoma progression was evaluated in a cohort of 54 patients with at least paired-samples. These findings suggest that only VE1-negative tumours would be genotyped to detect other BRAFV600 mutations, and that either primary melanoma or metastasis can be tested using immunohistochemistry, according to the material available." - pmids: - - "26695089" - - text: "BRAF mutation was frequently detected in younger patients, in thin melanomas, and in melanomas with less ulceration. As BRAF and NRAS mutations are rare in Taiwan, BRAF- or NRAS-targeted therapies may be effective only for selected Taiwanese melanoma patients." - pmids: - - "25767048" - - text: "our results suggest that the mutational spectrum of pediatric AF is more complex than in adult AF, being rich in AKT1 and BRAF, as well as CTNNB1 gene mutations." - pmids: - - "27062580" - - text: There is association between CpG island methylator phenotype and mutation of BRAF in patients with metastatic Colorectal cancer. - pmids: - - "27435270" - - text: "The incidence of conjunctival melanoma increased in Denmark over 50 years. The proportion of BRAF-mutated conjunctival melanoma was constant. BRAF mutations were identified as early events in conjunctival melanoma, associated with a distinct clinicopathological profile." - pmids: - - "27009410" - - text: BRAF-mutated traditional serrated adenoma (TSA) is distinct from KRAS-mutated TSA in predisposing to the acquisition of subsequent serrated neoplasia - pmids: - - "26496853" - - text: Chitosan nanoparticle-mediated BRAF siRNA interference evidently reduced the invasion capacity of gastric cancers. - pmids: - - "25794798" - - text: "For patients with non-small cell lung cancer with a EGFR mutation and an anaplastic lymphoma kinase mutation(ALK) with brain metastases, several agents have shown intracranial activity. Lapatinib has been tested for patients with brain metastases from breast cancer harboring a HER2 mutation. molecular targeted therapies have shown efficacy in BRAF-positive melanoma brain metastasis" - pmids: - - "27249714" - - text: BRAF-V600 mutation inconsistencies of up to 14.5% can be seen between the primary and metastatic foci in melanoma cases. These findings should be taken into account when planning targeted therapy and deciding on treatment responsiveness/unresponsiveness. - pmids: - - "26630683" - - text: "KRAS and, infrequently, BRAF mutations are observed in a subset of small intestinal adenocarcinomas, and are associated with higher pT classification and more frequent pancreatic invasion" - pmids: - - "26892442" - - text: BRAF mutation may have different prognostic implications in early- and late-stage colorectal cancer. - pmids: - - "27034263" - - text: BRAF(V600E) mutation is correlated with a lower expression of Na(+)/I(-) symporter in papillary thyroid carcinoma. - pmids: - - "26838744" - - text: "Both Glut1 and GLUT3 are strongly expressed by papillary thyroid carcinomas, and their expressions were significantly associated with the presence of the BRAF V600E mutation." - pmids: - - "26513490" - - text: BRAF mutation is associated with colon cancer. - pmids: - - "26799289" - - text: "Study found that BRAF alterations do not appear to play a prominent role in pediatric oligodendroglioma, and lack of BRAF fusions or BRAF p.V600E separate these tumors from several other pediatric low-grade gliomas" - pmids: - - "26206478" - - text: "Data indicate that BRAFV600E, P-cadherin and cadherin 6 protein expressions were correlated with one another." - pmids: - - "26285159" - - text: BRAF(V600E) status may help to predict clinical outcome of PTC. - pmids: - - "25213729" - - text: "These results revealed differences in the genetic profiles of KRAS, NRAS, PIK3CA and BRAF at mutation hotspots between Chinese CRC patients and those of Western countries." - pmids: - - "26691448" - - text: "Our results indicate that the mutations of BRAF and KIT exist in Japanese melanoma patients, however, the cell growth signaling may be regulated by not only these mutated genes, but by other unknown regulatory factors, which may affect the prognosis of melanoma." - pmids: - - "25766129" - - text: KRAS and BRAF mutation analysis could be used in the selection of patients for anti-EGFR therapy. - pmids: - - "25267307" - - text: "Data show that Griffipavixanthone (GPX), a dimeric xanthone isolated from Garcinia esculenta, is a B-RAF and C-RAF inhibitor against esophageal cancer cells." - pmids: - - "26646323" - - text: Thus ERK5 signaling is unlikely to play a role in tumor cell proliferation downstream of KRAS or BRAF or in tumor cells with ERK5 amplification. These results have important implications for the role of ERK5 as an anti-cancer drug target - pmids: - - "26959608" - - text: "Our findings present EBI-907 as a potent and promising BRAF inhibitor, which might be useful in broader indications." - pmids: - - "26810733" - - text: "NRAS codon 61 is the most frequent genetic alteration in this acromegaly series with Differentiated Thyroid Cancer . Since acromegalic patients have lower prevalance of BRAF V600E mutation, BRAF V600E mutation may not be a causative factor in development ofDifferentiated Thyroid Cancer in acromegaly." - pmids: - - "26575115" - - text: Studies suggest that the role of tumor biomarker V600E mutation of the BRAF proto-oncogene to detect or exclude cancers in patients with fine-needle aspiration (FNA) reports is marginal and should be reconsidered in guidelines. - pmids: - - "25920006" - - text: Results indicated that rs3748093*A single nucleotide polymorphisms (SNPs) of BRAF proto-oncogene (BRAF) was significantly correlated with an increased risk of papillary thyroid carcinoma (PTC) in a Chinese population. - pmids: - - "25916409" - - text: "Braf mutations were extremely rare in pancreatic cancer, suggesting that they play a limited role in PC development.[review]" - pmids: - - "26927447" - - text: Proto-Oncogene Proteins B-raf V600E mutation analysis is considered to be the most useful diagnostic tool for differentiating hairy cell leukemia from related lymphomas. - pmids: - - "25729732" - - text: The findings suggest that the presence of the BRAFV600E mutation and loss of p16 expression accelerate the growth rate of melanomas in vivo leading to larger melanocytes that are more frequently arranged in nests. - pmids: - - "26613644" - - text: "With respect to diagnostic potential, results obtained using the BRAF(V) (600E) mutation test combined with cytological examination were not significantly different from those obtained with cytological examination only." - pmids: - - "25988212" - - text: Data suggest that core-needle biopsy (CNB) + B-Raf proto-oncogene protein BRAF(V600E) mutation analysis can reduce rates of preventable diagnostic surgery. - pmids: - - "26215382" - - text: "The diagnostic classifier based on profiling of 13 microRNAs was proposed, with total estimated accuracy varying from 82.7 to 99% for different nodule types. Relative expression of six microRNAs appeared significantly different in BRAF(V600E)-positive samples compared to BRAF(V600E)-negative papillary carcinoma samples" - pmids: - - "26960768" - - text: BRAF (V600) -mutation is associated with metastatic melanoma. - pmids: - - "26208946" - - text: This study discovered oncogenic BRAF deletions with a distinct activation mechanism dependent on the BRAF dimer formation in tumor cells. - pmids: - - "26732095" - - text: "Langerhans cell histiocytosis and Erdheim-Chester disease, both with cutaneous presentations, and papillary thyroid carcinoma all harboring the BRAF(V600E) mutation." - pmids: - - "26454140" - - text: BRAF V600E inhibition stimulates AMP-activated protein kinase-mediated autophagy in colorectal cancer cells. - pmids: - - "26750638" - - text: BRAFK601E mutant thyroid tumors show better clinical outcomes than BRAFV600E positive tumors - pmids: - - "26422023" - - text: Data show that dasatinib induced DNA damage and activated DNA repair pathways leading to senescence only in the kinase-inactivating BRAF kinase (BRAF) mutations (KIBRAF) non-small cell lung cancer (NSCLC) cells. - pmids: - - "26623721" - - text: mutation is associated with distinct clinical and histopathologic features of colonic carcinomas - pmids: - - "25710585" - - text: BRAF V600E mutation predisposes papillary thyroid carcinoma cells toward invasive phenotypes - pmids: - - "26912807" - - text: "Positive status of BRAF(V600E) mutation was a significant predictor of multifocality (OR = 1.23; 95%CI = 1.14-1.32), extrathyroidal extension (OR = 2.23; 95%CI = 1.90-2.63), TNM stage (OR = 1.67; 95%CI = 1.53-1.81), lymph node metastasis (OR = 1.67; 95%CI = 1.45-1.93), vascular invasion (OR = 1.47; 95%CI = 1.22-1.79) and recurrence/persistence (OR = 2.33; 95%CI = 1.71-3.18) of Papillary Thyroid Carcinoma." - pmids: - - "26871894" - - text: "BRAF mutational status correlates with recurrence of papillary thyroid microcarcinoma [review; meta-analysis]" - pmids: - - "26671072" - - text: "TERT promoter mutations have a limited role in pediatric thyroid carcinoma, but the BRAFV600E mutation may have a role in recurrence in pediatric patients" - pmids: - - "26711586" - - text: "Twenty-three percent of patients with V600E- and 43% of patients with K601E-mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild-type tumors (P = 0.001 and 0.006, respectively). Overall, these mutations represent a significant minority of BRAF mutations, but have distinct clinicopathological phenotypes and clinical behaviors." - pmids: - - "26643848" - - text: BRAF V600E-mutation is associated with response to therapy in glioma. - pmids: - - "26384810" - - text: BRAF mutation is associated with melanoma. - pmids: - - "26678033" - - text: the V600E BRAF mutation occurred in about half of melanoma patients; it was associated with earlier manifestation of melanoma and likely with more aggressive clinical features. - pmids: - - "26600396" - - text: BRAF V600E mutation is associated with resistance to pazopanib in gastroenteropancreatic neuroendocrine tumors. - pmids: - - "26684240" - - text: Data show that B-Raf proto-oncogene (BRAF) V600E mutation was identified in 4 of 27 thyroid nodule patients with isthmic lesion. - pmids: - - "26190162" - - text: "BRAF testing is a useful adjunct to improve PPV for patients with \"suspicious for PTC\" cytology." - pmids: - - "24989827" - - text: BRAF mutations in cfDNA are detectable in >75% of late-stage melanoma patients with BRAF mutation-positive tumors. - pmids: - - "26446943" - - text: "It was suggested that somatic point mutations in BRAF, CDKN2A and PI3KCA do not participate in the oncogenesis of Medullary thyroid carcinoma" - pmids: - - "26718898" - - text: "Specific inhibition of BRAF oncogene, MEK or p38 signaling was associated with decreases in DIO3 expression in papillary thyroid cancer cells" - pmids: - - "26825960" - - text: We demonstrated that the BRAF (V600E) mutation slightly correlated with the clinicopathological characteristics of papillary thyroid cancer in the Han population - pmids: - - "26823860" - - text: BRAF mutations are associated with Papillary Thyroid Cancer. - pmids: - - "26259532" - - text: Levels of BRAF(mutant) and NRAS(mutant) ctDNA were determined using droplet digital PCR (ddPCR) assays. Among patients with samples available prior to treatment initiation ctDNA and LDH levels were elevated in 12/15 (80%) and 6/20 (30%) (p = 0.006) patients respectively - pmids: - - "26440707" - - text: "four cases harbored the BRAF-V600E mutation, one case harbored the BRAF-G606R mutation, and three cases harbored deletions in exon 19 of EGFR" - pmids: - - "26718882" - - text: BRAF mutations are associated with response to therapy in metastatic colorectal cancer. - pmids: - - "26775732" - - text: "olfactory neuroepithelial progenitor cells with the genetic heritage of bipolar I disorder were more sensitive to glutamate induced apoptosis. Under expression of the BRAF gene and protein, which plays a role in regulating the pro-survival MEK/ERK signaling pathway, may contribute to this apoptotic sensitivity." - pmids: - - "26753950" - - text: "Data indicate that among classic and follicular variant papillary thyroid carcinomas (PTCs), mutation of proto-oncogene protein B-raf (BRAF(V600E)) was significantly associated with the smaller size." - pmids: - - "26584635" - - text: BRAF V600E mutations were found in the papillary craniopharyngiomas subgroup and were not detectable in papillary craniopharyngiomas samples. - pmids: - - "26927026" - - text: "Case Report: melanoma with BRAF mutation in circulating cell-free DNA despite no detectable mutation in the primary lesion." - pmids: - - "26123241" - - text: "Clinical data suggest that BRAF mutations define specific subsets of patients with NSCLC; while their oncogenic nature is yet to be established in lung cancer, especially for non-V600E mutations, the value of BRAF mutations to predict the efficacy of targeted agents remains unclear." - pmids: - - "26711930" - - text: "TERT promoter mutation is an independent predictor for distant metastasis of thyroid neoplasms, but ALK testing is not useful for clinical decision-making in Korean patients with a high prevalence of the BRAF V600E mutation." - pmids: - - "26857243" - - text: New and highly sensitive method to detect BRAF V600 mutations in Langerhans cell histiocytosis. - pmids: - - "27094161" - - text: Findings suggested that BRAF-activated noncoding RNA may contribute to hepatocellular carcinoma initiation and progression. - pmids: - - "26758762" - - text: BRAFV600E Mutation Status in obese Patient is associated with Papillary Thyroid Cancer. - pmids: - - "26215201" - - text: BRAF Mutations are associated with Lung Adenocarcinoma. - pmids: - - "26202550" - - text: Chronic lymphocytic thyroiditis was an independent predictor for less aggressiveness in conventional papillary thyroid carcinoma patients regardless of BRAF mutation status. - pmids: - - "26598713" - - text: "use of sorafenib has been ineffective in the management of advanced Colorectal cancer (CRC) patients with KRAS mutation, combination of selective BRAF inhibitors plus EGFR inhibitors may represent a good therapeutic strategy in BRAF-mutant CRC." - pmids: - - "26616508" - - text: "Recent reports show a significant radiosensitization of the irradiated healthy tissue in patients with melanoma after the combination of radiotherapy and BRAF(V600) inhibitors, evoking concern in clinical practice" - pmids: - - "26616061" - - text: Monoclonal antibody VE1 immunohistochemistry predicts BRAF V600E mutation status and clinical outcome in colorectal cancer. - pmids: - - "26496026" - - text: presence of BRAF mutations in melanoma associated with younger age - pmids: - - "26282084" - - text: Data suggest that combination of proto-oncogene protein B-raf (BRAF) and mTOR serine-threonine kinase (mTOR) inhibition forms the basis of a treatment regimen of thyroid cancer. - pmids: - - "26284586" - - text: TRAP1 is a downstream effector of BRAF cytoprotective pathway in mitochondria and TRAP1 targeting may represent a novel strategy to improve the activity of proapoptotic agents in BRAF-driven CRC cells. - pmids: - - "26084290" - - text: BRAFV600 mutations are associated with response to BRAF inhibitors in metastatic melanoma. - pmids: - - "26498143" - - text: Data indicate that tumors with proto-oncogene proteins BRAF or KRAS mutations were in correlation with elevated serum level of carbohydrate antigen (CA19-9) and carcinoma embryonic antigen (CEA). - pmids: - - "26530529" - - text: "Among 33 BRAF wild-type colorectal carcinomas, 16 had no or weak staining, whereas 15 (45%) had heterogeneous staining. In contrast with colorectal carcinoma, Bond and Ventana VE1 IHC in melanoma and PTC were highly concordant with sequencing results" - pmids: - - "26438153" - - text: "combined pan-RAF and MEK inhibition can overcome intrinsic and acquired resistance to single-agent RAF/MEK inhibition, supporting dual pan-RAF and MEK inhibition as a novel therapeutic strategy for BRAF- and KRAS-mutant cancers" - pmids: - - "26351322" - - text: "BRAF V600E mutation is associated with differentiating Rathke's cleft cyst with squamous metaplasia from papillary craniopharyngioma." - pmids: - - "25820214" - - text: BRAF mutation is associated with poor response to cetuximab in colorectal carcinoma. - pmids: - - "26512781" - - text: Cooperation of BRAF(F595L) and mutant HRAS is associated with histiocytic sarcoma. - pmids: - - "26582644" - - text: "In three cases of papillary carcinoma arising in struma ovarii (PSCS), novel BRAF and KRAS mutations were identified in two of three tumors suggesting that mutations in PCSO may differ from those commonly identified in papillary carcinoma of the eutopic thyroid." - pmids: - - "26362194" - - text: beta3-alphaC deletions are activating mutations in BRAF. BRAF deltaNVTAP confers CRAF- and dimer-independent activity and is resistant to vemurafenib. - pmids: - - "26996308" - - text: "According to results, oral benign peripheral nerve sheath tumours have a low LOH rate, but P53 locus alteration is occasionally found. Additionally, BRAF V600E mutation is either not relevant to the molecular pathogenesis of this group of lesions of the oral cavity, or may occur at very low rates." - pmids: - - "26075701" - - text: "The BRAF-mutated Colorectal Cancers ,in comparison to KRAS-mutated ones, are associated with a much worse prognosis for the afflicted patients." - pmids: - - "27082577" - - text: "PIK3CA mutations were observed in 32% (8) of the 25 breast cancer tissues examined, Sequencing of exon 2 of KRAS suggested that 20% (5) of the 25 samples harbored a mutation and 16% (4) of BRAF harbored a mutation." - pmids: - - "26600545" - - text: "Letter: report frequent BRAF V600E mutations in metanephric stromal tumors." - pmids: - - "26796506" - - text: RAS and BRAF wild-type status could help select an elderly and unfit population that could benefit from anti-epidermal growth factor receptor single agent therapy. - pmids: - - "26446234" - - text: BRAF mutation in pilocytic astrocytoma is associated with a more diffuse growth pattern but does not confer a more aggressive clinical behavior - pmids: - - "25066317" - - text: the prevalence and clinicopathological associations of BRAF V600E and TERT promoter mutations in Chinese PTC patients - pmids: - - "27064992" - - text: "AKT3 has a role in prostate cancer proliferation through regulation of Akt, B-Raf, and TSC1/TSC2" - pmids: - - "26318033" - - text: A constitutive active MAPK/ERK pathway due to BRAFV600E mutation positively regulates aryl hydrocarbon receptor pathway in papillary thyroid carcinoma. - pmids: - - "26392334" - - text: BRAF V600E-mutated microcarcinomas represent a distinct biological subtype - pmids: - - "26271724" - - text: "MC1R status is associated with BRAF(V600E), BRAF(V600K), and NRAS mutations in cutaneous melanomas" - pmids: - - "26807515" - - text: results reveal a common BRAF(V600E)-directed transcriptional regulatory pathway that mediates epigenetic silencing in unrelated solid tumors and provide strong support for an instructive model of oncoprotein-directed epigenetic silencing - pmids: - - "26787892" - - text: BRAF-V600E expression in primary nodular melanoma is associated with aggressive tumour features. - pmids: - - "26924424" - - text: that BRAF sequencing has been used to discriminate between dedifferentiated papillary thyroid carcinoma and tumor to tumor metastasis - pmids: - - "26521063" - - text: "BRAF, NRAS and KRAS gene mutations in plasma cell dyscrasias may have a role MEK-ERK pathway activation" - pmids: - - "26090869" - - text: Studies indicate that concurrent inhibition of proto-oncogene protein B-raf (BRAF) and Map kinase kinase (MEK) improved the most effective therapeutic modality as compared as single BRAF or MEK inhibition for patients with metastatic melanoma (MM). - pmids: - - "26143635" - - text: "BRAF mutation is frequent in early-onset colorectal cancer in Taiwan and is associated with a poorly differentiated histology, a serrated precursor polyp, focal signet ring cell differentiation, lack of microsatellite instability and a poor prognosis." - pmids: - - "26500331" - - text: Low incidence of BRAF mutations in adenocarcinomas of the ampulla of Vater suggest no major role in tumorigenesis. - pmids: - - "26997442" - - text: BRAF inhibitor therapy-associated melanocytic lesions lack the BRAF V600E mutation and show increased levels of cyclin D1 expression. - pmids: - - "26997441" - - text: Actin remodeling confers BRAF inhibitor resistance to melanoma cells through YAP/TAZ activation - pmids: - - "26668268" - - text: The lesions designated as KAs and BRAF inhibitor-associated verrucous keratoses had a similar mutational profile. - pmids: - - "26319365" - - text: The rate of the BRAF V600E mutation in the pediatric population with papillary thyroid carcinoma is significantly lower than that seen in the adult population - pmids: - - "26910217" - - text: "Apart from BRAF V(600)E, no other recurrent somatic mutation was identified in these hairy cell leukaemia exomes, thereby excluding additional acquired mutations as also prevalent at a near-universal frequency in this form of the disease." - pmids: - - "26871591" - - text: "BRAF(V600E) mutation induces MGL ligand expression, thereby providing a direct link between oncogenic transformation and aberrant expression of immunosuppressive glycans in colorectal neoplasms." - pmids: - - "26172302" - - text: Findings suggest that triple therapy directed against BRAF/MEK/ErbB3 may be able to provide durable control of BRAF mutated metastatic melanoma. - pmids: - - "26208478" - - text: Patients with multifocal PTC whose largest tumor is BRAF-negative can have smaller tumors that are BRAF-positive. - pmids: - - "26448939" - - text: BRAF was a significant parameter for predicting multifocality in follicular variant of papillary thyroid carcinoma. - pmids: - - "24909403" - - text: "This study demonstrated that when whole chromosome 7 gain accompanies the KIAA1549-BRAF fusion, the fusion likely arises first." - pmids: - - "26945035" - - text: Mutated BRAF mutant protein was detected in 53% of the bile duct adenomas and in none of the cases of bile duct hamartomas - pmids: - - "25704541" - - text: The significant association of SLP-2 overexpression with unfavorable clinicopathological characteristics and BRAFV600E mutation indicates that SLP-2 may have a role in aggressiveness of BRAF-mutated papillary thyroid carcinoma. - pmids: - - "26750533" - - text: "No BRAF V600E mutations were seen in this cohort of non-infiltrative, non-invasive follicular variant of papillary thyroid carcinoma" - pmids: - - "25736029" - - text: BRAF mutations are associated with metastatic colorectal cancer. - pmids: - - "26153495" - - text: The BRAF mutation was significantly associated with persistence/recurrence and a potential predictor in patients with classical PTC >10 mm at a BRAF mutation prevalent area - pmids: - - "24838814" - - text: identification of 7 BRAF-induced genes that are specific for BRAF V600E-driven papillary thyroid carcinoma. - pmids: - - "26625260" - - text: "Case Report: BRAF kinase domains are a clinically important genomic alteration and therapeutic target." - pmids: - - "26562024" - - text: BRAF mutation is not associated response to chemotherapy in melanoma. - pmids: - - "25749811" - - text: "Conclude that PRIMA-1(Met) through its ability to directly reactivate p53, sensitises (V600E/K)BRAF-positive melanoma cells to BRAF inhibitors." - pmids: - - "26790143" - - text: "The patient's resected brain tumor is BRAF V600E mutated, NRAS wild type (WT), and TERT C250T mutated. The patient is a carrier of germline variants in immunomodulatory loci associated with prolonged survival." - pmids: - - "26597176" - - text: "The vast majority of these tumors harbor the oncogenic BRAF V600E mutation. [review]" - pmids: - - "26563980" - - text: "Case Report: erythematous rash as a result of BRAF inhibitor therapy in advance melanoma." - pmids: - - "26381028" - - text: BRAFV600E expression in melanocytes induces Schwannian differentiation in vivo - pmids: - - "26036358" - - text: "Data indicate that mutations in PTEN phosphatase A167T and NRAS protein Q61L, and proto-oncogene protein BRAF V600E were detected in melanoma cell line." - pmids: - - "26562020" - - text: "KRAS and BRAF oncogenes have roles in colorectal cancer development and therapy resistance [review]" - pmids: - - "26299805" - - text: BRAF V600E mutation in non-tumoral surrounding tissue in patients with colorectal cancer may be used as a valuable marker to foresee clinical outcome or a possible recurrence. - pmids: - - "26359417" - - text: BRAF Mutation is associated with response to therapy in Advanced Melanoma. - pmids: - - "26426340" - - text: The determination of BRAF mutational status is recommended in any cystic sellar lesion and can in most cases be provided by VE1 immunohistochemistry even in specimens of low cellularity. - pmids: - - "25442675" - - text: B-Raf(V600E) mutation in metastatic melanoma cells up-regulated tissue factor expression on cell membranes and promoted thrombin production - pmids: - - "26504080" - - text: "BRAF mutations are infrequent, whereas C-KIT and NRAS mutations are seen with higher frequency in vulvar melanomas than melanomas of other sites." - pmids: - - "26225944" - - text: "BRAF mutations seem to occur exclusively in the epithelial, but not in the stromal component" - pmids: - - "26306423" - - text: "These results identify Rnd3 as a regulator of cross talk between the RAF/MEK/ERK and Rho/ROCK signaling pathways, and a key contributor to oncogene-mediated reorganization of the actin cytoskeleton and focal adhesions." - pmids: - - "18045987" - - text: Cdk1/cyclin B has a role in regulating B-raf activation at mitosis - pmids: - - "18434602" - - text: the scaffold protein IQGAP1 couples Ca(2+) and calmodulin signaling to B-Raf function - pmids: - - "18567582" - - text: "proliferation of cells harboring mutations in B-Raf, but not K-Ras, is exquisitely sensitive inhibition of the MAPK pathway" - pmids: - - "19378335" - - text: B-Raf/MKK/ERK provides a permissive environment for melanoma genesis by modulating plexin B1. - pmids: - - "19483722" - - text: "Data show that melanoma cells expressing B-Raf(V600E) display a reduced C-Raf:B-Raf ratio, and further suppression of C-Raf increases MAPK activation and proliferation." - pmids: - - "19917255" - - text: "These data demonstrate a high prevalence of B-RAF mutations in the present study population, underscoring the possibility of strong regional differences." - pmids: - - "20460314" - - text: Mutant protein kinase elicits significant therapeutic responses in mutant BRAF-driven human melanoma xenografts. - pmids: - - "20807807" - - text: The (600DLAT)B-RAF and (V600E)B-RAF mutations were found enriched in DNA and mRNA from the CD1a+ fraction of granuloma. - pmids: - - "22506009" - - text: It was shown that the dimer interface within the kinase domain plays a pivotal role for the activity of B-Raf and several of its gain-of-function mutants. - pmids: - - "22510884" - - text: It was concluded that extracellular kinase-mediated up-regulation of c-myc by K-Ras or B-Raf oncogenes disrupts the establishment of apical/basolateral polarity in colon epithelial cells independently of its effect on proliferation. - pmids: - - "22826122" - - text: Oncogenic B-RAF(V600E) signaling induces the T-Box3 transcriptional repressor to repress E-cadherin and enhance melanoma cell invasion. - pmids: - - "23190890" - - text: elevated pERK expression occurs in urothelial carcinoma in the absence of B-Raf mutations and is not correlated with FGFR3 over-expression - pmids: - - "19404844" - - text: Expression of active mutants of B-Raf induces fibronectin. - pmids: - - "16960555" - - text: The high-resolution melting method developed was shown to be a reliable method for BRAF mutation detection - pmids: - - "24859998" - - text: Colorectal poorly differentiated neuroendocrine carcinomas frequently harbor BRAF mutations and are associated with poor overall survival. - pmids: - - "26826419" - - text: BRAF mutation is playing an important role in the pathogenesis of pyogenic granuloma. - pmids: - - "26802240" - - text: "Two cases of classic HCL, 1 showing CD5 expression, were truly BRAF V600E-negative based on negative results by PCR and sequencing despite high-level leukemic involvement" - pmids: - - "24503706" - - text: BRAF mutation is associated with melanoma. - pmids: - - "26353041" - - text: "Results revealed that in patients with papillary thyroid microcarcinoma (PTMC), BRAF mutation is associated with tumor size, multifocality and aggressive features and may be used as a predictive factor for prognosis of PTMC. [meta-analysis]" - pmids: - - "26223933" - - text: Report BRAF V600 mutation detection in a large cohort of clinical samples of cutaneous melanoma metastases to the lymph nodes. - pmids: - - "26339422" - - text: "BRAF fusions are rare driver alterations in a wide variety of malignant neoplasms, but enriched in Spitzoid melanoma, pilocytic astrocytomas, pancreatic acinar and papillary thyroid cancers." - pmids: - - "26314551" - - text: "Studies indicate that more than half of all Erdheim-Chester disease (ECD) patients carry the proto-oncogene protein B-raf mutation BRAF(V600E) and treated with vemurafenib, a BRAF inhibitor, which has proven highly beneficial." - pmids: - - "26197238" - - text: "BRAF and KRAS mutations show together a high prevalence in stage II and III MSI colon cancer and, when combined, are associated with poor survival compared to dWT cancers, which status confers an excellent cancer-specific survival." - pmids: - - "26376292" - - text: Systems Analysis of Adaptive Responses to MAP Kinase Pathway Blockade in BRAF Mutant Melanoma. - pmids: - - "26405815" - - text: Report BRAF mutations and PD-L1 expression in disseminated histiocytoses. - pmids: - - "26110571" - - text: Report BRAF mutations in selected cohort of patients with pulmonary metastases of malignant melanoma and prognostic implications. - pmids: - - "26305188" - - text: This study sought to investigate the correlations of V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutations with the clinicopathologic features of papillary thyroid carcinoma - pmids: - - "26214416" - - text: "Case Report: combined \"infiltrating astrocytoma/pleomorphic xanthoastrocytoma\" harboring IDH1 R132H and BRAF V600E mutations." - pmids: - - "26414224" - - text: "Cytomorphologic features can help select nodules for the BRAF(V600E) mutation test among thyroid nodules read as \"suspicious for malignancy\" on cytology." - pmids: - - "26187369" - - text: The RAS-binding domain of human BRAF protein exhibits allosteric conformational changes upon binding HRAS. - pmids: - - "26165597" - - text: "In the validation-set (508 pts, RAS wt: 262 (51.6%), BRAFV600E mutated: 49 (9.6%)), right-sided primary, female gender and mucinous histology were confirmed as independent predictors of BRAFV600E mutation with high accuracy" - pmids: - - "26575603" - - text: BRAF mutations were associated with central nervous system tumors. - pmids: - - "26115961" - - text: "Data show that proto-oncogene protein B-raf (BRAF) inhibition reduces melanoma glucose uptake per cell, but that this change is no longer significant following normalization for cell volume changes" - pmids: - - "25948295" - - text: "In 19 cases of papillary tumor of the pineal region, there was a lack of BRAF-V600E mutations." - pmids: - - "26125673" - - text: "Apart from these distinct Cdc37/Hsp90 interfaces, binding of the B-Raf protein kinase to the cochaperone is conserved between mammals and nematodes." - pmids: - - "26511315" - - text: Radiotherapy with concomitant BRAF inhibitor therapy is feasible with an acceptable increase in toxicity. Vemurafenib is a more potent radiosensitizer than dabrafenib. - pmids: - - "25762352" - - text: "BRAF immunohistochemistry(IHC) was strongly concordant with BRAF mutation test and had high diagnostic accuracy in BRAF mutation analysis of Papillary thyroid carcinoma.[review; meta-analysis]" - pmids: - - "25957797" - - text: Data support a central role of BRAF V600E mutation in Erdheim-Chester disease and suggest oncogene-induced senescense as a link to both inflammation and oncogenic mutation in histiocytes playing a role in the disease. - pmids: - - "24671772" - - text: BRAF mutation frequencies depended on histological subtype and localization of primary melanoma. - pmids: - - "26138035" - - text: Colon cancers from Asians have a lower rate of BRAF mutations than blacks or whites. - pmids: - - "26160882" - - text: "Results suggest that the presence of a BRAF mutation does not necessarily 'drive' more rapid tumour growth but is associated with poorer MSS in patients with early-stage disease" - pmids: - - "25752325" - - text: BRAF mutation detection in cell block material is feasible and highly specific for papillary thyroid carcinoma - pmids: - - "26154146" - - text: "associate higher expression of the ligand-receptor axis of TFF2 and CXCR4 with BRAF V600E-mutant colon cancer (P = 3.0 x 10(-3) and 0.077, respectively for TCGA; P = 3.0 x 10(-8) and 5.1 x 10(-7) for CIT)" - pmids: - - "25899003" - - text: The presence or absence of the BRAF mutation and TERT promoter polymorphism was not significantly correlated with survival in Papillary thyroid carcinoma - pmids: - - "26461266" - - text: "Case Report: oncocytic papillary thyroid carcinoma with lymphoid stroma (Warthin-like tumor) with BRAF V600E and V600K mutations." - pmids: - - "26191315" - - text: BRAF mutations often affect a limited fraction of transformed metastatic colorectal cancer cells. - pmids: - - "25851630" - - text: BRAF V600E mutation can be used as a supplementary molecular marker to aid in the diagnosis of Hairy cell leukaemia - pmids: - - "25938346" - - text: consideration needs to put on multiple targets when deciding molecular target therapies for patients with BRAF V600E mutated thyroid carcinoma - pmids: - - "26403329" - - text: "reviews the current knowledge on the use and implications of BRAF mutational status in colorectal tumors, in order to define its present role in the clinical practice" - pmids: - - "25975986" - - text: Characterization of TP53 as a downstream effector of miR-3151 provides evidence for a causal link between BRAF mutations and TP53 inactivation - pmids: - - "26582795" - - text: "Given the high prevalence of lung cancer and the availability of targeted therapy, Chinese lung ADC patients without EGFR and KRAS mutations are recommended for HER2 and BRAF mutations detection, especially for those never smokers" - pmids: - - "26102513" - - text: The presence of the BRAFV600E mutation is independently associated with high F-18 FDG uptake on preoperative PET/CT in patients with overt papillary thyroid cancer. - pmids: - - "26632889" - - text: BRAF V600 mutation is associated with melanoma. - pmids: - - "25899783" - - text: "Histopathological prognostic markers (Breslow thickness, mitotic index, ulceration, tumor infiltrating lymphocytes pattern) did not show any differences depending on BRAF V600E mutational status" - pmids: - - "25888143" - - text: "Tissue micro array availability, BRAF mutation and KRAS mutation were all independent prognostic factors for colorectal cancer survival." - pmids: - - "26121270" - - text: "Retrospective analysis suggesting that nivolumab has similar efficacy and safety outcomes in patients with wild-type or mutant BRAF, regardless of prior BRAF inhibitor or ipilimumab treatment." - pmids: - - "26181250" - - text: "Data suggest that proto-oncogene potein B-raf (BRAF) V600E mutations are present in rare cases of dendritic cell and histiocytic disorders, and their identifi cation off ers a potential therapeutic target for these neoplasms." - pmids: - - "25242093" - - text: "LOH and TP53 mutations detected in lip squamous cell carcinoma and actinic cheilitis may be associated with tumorigenesis, whereas BRAF mutation does not seem to significantly contribute to LSCC pathogenesis" - pmids: - - "26084614" - - text: "Letter/Case Reports: BRAF-mutant colorectal cancers with axillary lymph node involvement." - pmids: - - "26182332" - - text: Report acute kidney injury in patients receiving BRAF inhibitors. - pmids: - - "26182194" - - text: Report 3-fold increased risk of death for higher-risk melanomas harboring NRAS or BRAF mutations. - pmids: - - "26146664" - - text: discordancy of BRAF mutation status is not an infrequent finding between primary and metastatic melanoma. - pmids: - - "25376477" - - text: we identified a new SND1-BRAF fusion that appeared to be present in a subpopulation of tumor cells. - pmids: - - "25985019" - - text: "The increased activity of the V600E mutant is twofold: increased flexibility of the A-loop which likely promotes the release of the products following phosphorylation of the substrate and an increased energy barrier between the active and inactive state." - pmids: - - "25868080" - - text: BRAF overexpression is associated with BRAF V600E mutation in papillary thyroid carcinomas. - pmids: - - "26125698" - - text: "Following B-RAF expression, MIR31HG is located mainly in the cytoplasm." - pmids: - - "25908244" - - text: Report incidence and heterogeneity of genetic changes driving BRAF inhibitor resistance in melanomas. - pmids: - - "26608120" - - text: BRAF V600E Mutation is associated with papillary thyroid carcinoma. - pmids: - - "25937618" - - text: "The study demonstrates the activating BRAF mutation (V600E), which is found in multiple human cancers, is a driver of canine invasive cell carcinoma of the bladder, and highlights a urine-based test for quick diagnosis." - pmids: - - "25767210" - - text: The V600E BRAF mutation in a borderline serous tumour of the testis is genotypic evidence of similarity with its phenotypic ovarian counterpart. - pmids: - - "25491441" - - text: NRASQ61R and BRAFV600E immunohistochemistry coupled with next-generation sequencing allow detection of mutations in melanoma challenging samples. - pmids: - - "26297254" - - text: Data indicate mutation in the proto-oncogene protein B-raf (BRAF) gene at the time of hairy cell leukemia (HCL) diagnosis in two cases. - pmids: - - "25029639" - - text: BRAF V600E Mutation is associated with Melanoma. - pmids: - - "25952101" - - text: BRAF V600-Mutation is associated with Colorectal Cancer. - pmids: - - "26392102" - - text: The presence of TC was significantly associated with TERT promoter and BRAF mutations. BRAF did not influence patient outcome. - pmids: - - "25870252" - - text: BRAF V600E mutation is associated with Anaplastic thyroid cancer. - pmids: - - "25588542" - - text: "Case Report: BRAFV600 mutant non-small-cell lung cancer which progressed on vemurafenib therapy." - pmids: - - "26045855" - - text: BRAF V600-Mutation is associated with Colorectal Cancer. - pmids: - - "26460303" - - text: PXA in adults PXA may present features distinct from pediatric PXA. Anaplastic features and BRAF mutation may potentially identify specific subgroups with distinct prognoses - pmids: - - "26454767" - - text: BRAF-mutated conjunctival melanoma (CM) were frequent in younger patients and were rare in tumors involving the extrabulbar conjunctiva. - pmids: - - "26425792" - - text: "BRAF is minimally prognostic in papillary thyroid carcinoma. However, prevalence of the BRAF mutation is 70% in the general population, providing the opportunity for targeted therapy." - pmids: - - "25712893" - - text: BRAFV600E expression is homogeneous in melanoma tumors. - pmids: - - "26083553" - - text: "The present work discusses the most recent and controversial evidence on the BRAF V600E relevance in development and progression of thyroid tumors. [Review]" - pmids: - - "24828987" - - text: Proteomic profile and in silico analysis in metastatic melanoma with and without BRAF mutation - pmids: - - "25437182" - - text: oncogenic activation of BRAF allows tumor cells to co-opt an evolutionarily conserved MHC-I trafficking pathway as a strategy to facilitate immune evasion. - pmids: - - "25795007" - - text: "BRAF mutations in Non-small cell lung cancer are more likely in Adenocarcinoma, and BRAF V600E mutations are more frequent in women and never smokers." - pmids: - - "25689095" - - text: These findings enhance our understanding of factors cooperating with BRAF inhibition that accelerate keratinocyte oncogenesis as well as broaden the knowledge base of multifactorial mediators of cancer in general. - pmids: - - "25724524" - - text: The BRAF mutation is a possible indicator for determining the extent of thyroidectomy required but not for the extent of lymph node dissection and prognosis in patients with conventional papillary thyroid carcinoma. - pmids: - - "26120069" - - text: This study suggests that BRAF mutation-related specific transcripts associate with a poor phenotype in melanoma and provide a nest for further investigation. - pmids: - - "25174651" - - text: BRAF mutations are associated with response to chemotherapy in colorectal cancer. - pmids: - - "25628445" - - text: BRAF mutations are associated with Metastatic Colorectal Cancer. - pmids: - - "25666295" - - text: Dual inhibition of BRAF(V600E) and MEK reduced but did not prevent SW1736 invasion. - pmids: - - "26384551" - - text: The patient carrying a concomitant BRAF mutation in temporal gangliogliomas and focal cortical dysplasia fell into Engel Class II. - pmids: - - "25937573" - - text: "The aim of this study was to evaluate the prognostic role of MMR status, BRAF mutations and specific KRAS point mutation in 762 patients in Chinese population, and several clinicopathologic features to better stratify colorectal cancer patients" - pmids: - - "25929517" - - text: "genetic association studies in populations in Ireland and Belgium: Data suggest that frequency of mutations in BRAF (specifically the V600E mutation) vary by demographic location." - pmids: - - "25746038" - - text: BRAF V600E mutation is associated with glioblastoma. - pmids: - - "25885250" - - text: RNA expression profiles were compared between conventional BRAFwild type and BRAFmutation papillary thyroid carcinomas. - pmids: - - "25922907" - - text: These findings suggest that prenylation inhibition may be able to target melanoma cells with mutant NRAS or with mutant BRAF and PTEN. - pmids: - - "25646931" - - text: Tumor dissemination in colon cancer patients is less likely to occur with the BRAF mutation. - pmids: - - "25884297" - - text: BRAF mutations are associated with follicular variant of thyroid papillary carcinoma. - pmids: - - "26230187" - - text: BRAF-induced tumorigenesis is IKKalpha-dependent but NF-kappaB-independent - pmids: - - "25900832" - - text: BRAF V600E mutation is associated with Langerhans cell histiocytosis. - pmids: - - "26734696" - - text: high-resolution melt and allele-specific PCR could detect as low as 1.25% KRAS- or BRAF-mutant alleles. - pmids: - - "25605225" - - text: "Case Report: patient with V600E BRAF-mutant leptomeningeal melanoma who experienced a complete clinical and radiologic response after dabrafenib treatment." - pmids: - - "24733801" - - text: No mutations in the BRAF gene were identified in patients with gastric cancer. - pmids: - - "25815786" - - text: Vitamin C is selectively toxic to cells with mutant KRAS or BRAF alleles. - pmids: - - "26541605" - - text: "Among 264 patients, mutations in KRAS exon 2, KRAS exons 3 or 4, NRAS, BRAF and PIK3CA were detected in 34.1%, 3.8%, 4.2%, 5.4% and 6.4%, respectively. Thus, a total of 12.1% of patients without KRAS exon 2 mutations had other RAS mutations" - pmids: - - "25886136" - - text: BRAF(V600E) mutations in primary cutaneous melanomas were associated with residence in locations with medium and high UV indices in mid-life. - pmids: - - "25048604" - - text: "Next Generation Sequencing (NGS) assay revealed three genomic alterations: activating BRAF mutation (V600E), loss of CDKN2A/2B, and APC I1307K. After treatment with BRAF inhibitor (dabrafenib), the child's clinical condition improved progressively." - pmids: - - "25116269" - - text: "global miRNA expression profiles in fresh-frozen metastatic melanomas in relation to clinical outcome and BRAF mutation, were examined." - pmids: - - "25490969" - - text: "Data show that licochalcone A (LicoA) suppresses solar UV-induced cyclooxygenase (COX-2) expression by acting as a potent inhibitor of enzymes PI3K, MEK1, and B-Raf." - pmids: - - "25710724" - - text: A complex mechanism driven by mutation BRAF (V600E) on melanoma tumorigenesis. - pmids: - - "25890285" - - text: "These tumors showed a markedly better prognosis, with molecularly PXA-like tumors frequently harboring BRAF V600E mutations and 9p21 (CDKN2A) homozygous deletion." - pmids: - - "25752754" - - text: neuregulin 1 promotes compensatory ErbB3 receptor signaling in mutant BRAF melanoma - pmids: - - "26269601" - - text: "This is the first observation of a secondary BRAF mutation in a vemurafenib-resistant patient-derived melanoma sample, which confirms the potential importance of the BRAF L505H mutation in the development of therapy resistance." - pmids: - - "25515853" - - text: Combination of a BRAF inhibitor plus a MEK inhibitor adds a clear benefit over monotherapy with BRAF inhibitor in unresectable or metastatic cutaneous BRAF Val600-mutation-positive melanoma. - pmids: - - "26433819" - - text: Missense mutations were identified in the BRAF and KRAS genes in cutaneous melanoma cell line. - pmids: - - "25515650" - - text: Results demonstrate that mutated BRAF is associated with melanomas that are more aggressive.They are also associated with absence of solar elastosis and tumor epitheloid cells - pmids: - - "25385688" - - text: The BRAFT1799A mutation was found in 38 cases (42.7%). - pmids: - - "25854387" - - text: No association was established between BRAF V600E mutation and regional lymph node metastasis in papillary thyroid carcinoma in Chinese patients. - pmids: - - "25755776" - - text: "Patient-derived tumor xenografts provides 'real-time' results in an animal that phenocopies the biology and expected vemurafenib responses of the tumor in a patient with BRAF V600E melanoma." - pmids: - - "23852164" - - text: "Among the 779 cases, 150 cases were positive for BRAF (V600E) staining, including 38 (of 611, 6%) CRCs, 102 (of 127, 80%) PTCs and 10 (of 41, 24%) malignant melanomas." - pmids: - - "25784606" - - text: Report relatively high frequency of BRAF(V600E) and KIT mutations in amelanotic melanoma. - pmids: - - "23938765" - - text: The potential role of combined MMR and BRAF IHC as prognostic markers in CRC. - pmids: - - "25153715" - - text: "Despite its high specificity, our meta-analysis shows that BRAF(V600E) mutation analysis has a low sensitivity in diagnosing papillary thyroid cancer in thyroid nodules" - pmids: - - "26232865" - - text: BRAF protein play a role in the mitochondrial fragmentation in melanoma patients. - pmids: - - "26032958" - - text: Somatic BRAF mutation was found in a patient with syringocystadenoma. - pmids: - - "25950823" - - text: "no BRAF V600E mutations were found in PMSAs, but KIAA1549-BRAF fusion was identified in intermediate pilomyxoid tumors" - pmids: - - "26321697" - - text: "the outcome of 68 patients with advanced colorectal cancer and RAS, BRAF and PI3KCA status according to ALK gene status, is reported." - pmids: - - "24691006" - - text: BRAF protein immunohistochemistry on fine needle aspiration can be important in the diagnosis of papillary thyroid carcinoma - pmids: - - "26080065" - - text: "in different macroscopic subtypes of colorectal adenoma, BRAF mutation (V600E) was found in 2 of 36 lateral spreading tumors and 1 of 34 polypoid lesions; mutations in KRAS, BRAF or PIK3CA occurred in a mutually exclusive manner" - pmids: - - "25551625" - - text: "Case Report: successful (neo)adjuvant BRAF-targeted therapy in a patient with locally advanced BRAF V600E mutant melanoma." - pmids: - - "25643238" - - text: A pathogenic BRAF(V600E) mutation was identified in a patient with Erdheim-Chester disease. - pmids: - - "25735579" - - text: Data suggest that Sema6A and Mical1 may represent new potential therapeutic targets in BRAFV600E melanoma. - pmids: - - "25576923" - - text: LY3009120 also inhibits various forms of RAF dimers including BRAF. - pmids: - - "26343583" - - text: Tumors with non-V600E BRAF mutants are insensitive to these drugs. - pmids: - - "26343582" - - text: BRAFV600E-mutation-positive papillary thyroid microcarcinoma are more likely to manifest with aggressive clinicopathological characteristics. - pmids: - - "25593071" - - text: "these results may not only indicate some future applications of inhibitors targeting B-Raf(v600e), but also benefit B-Raf(v600e) harboring cancer patients." - pmids: - - "25832798" - - text: The absence of CXCR4 expression and BRAF mutation in cancers with a minor PD component underlined different pathogenic and metastatic processes in comparison with WDCs. - pmids: - - "24992171" - - text: "meta-analysis suggested that extrathyroidal extension, lymph node metastasis, disease recurrence, and advanced TNM stage were associated with BRAF(V600E) mutation in papillary thyroid carcinoma" - pmids: - - "24389984" - - text: mutations in BRAF and NRAS are not mutually exclusive because they were simultaneously present in the same tumor specimens - pmids: - - "24710085" - - text: PD-L1 expression in melanocytic lesions does not correlate with the BRAF V600E mutation. - pmids: - - "25370533" - - text: High frequency and specificity of the V600E BRAF mutation make it a useful biochemical marker for selecting the right surgical strategy for thyroidectomy. - pmids: - - "26521469" - - text: we describe three interesting cases of paediatric glial and glioneuronal tumours harbouring both BRAF V600E and H3F3A K27M mutations. - pmids: - - "25389051" - - text: Trametinib alone caused upregulation of p-AKT in BRAF non-V600 mutated cells. - pmids: - - "25706985" - - text: BRAF and NRAS alterations are preserved during in vitro culture in melanoma in a series of patients in which the c-KIT mutation was not detected - pmids: - - "25363723" - - text: It is a major negative mediator of the extracellular signal-related kinase (ERK)/mitogen-activated protein kinase and a substrate of cdk5 in neurons. - pmids: - - "25104559" - - text: Our data lead us to hypothesize that TERT promoter and BRAF mutations cooperate in cutaneous melanoma - pmids: - - "26055532" - - text: v-raf murine sarcoma viral oncogene homolog B (BRAF) is preferentially mutated in proximal colon cancers. - pmids: - - "26145760" - - text: Results show that active BRAF upregulates HMGCL via Oct-1 in cancer cells. HMGCL selectively promotes BRAF V600E-dependent phosphorylation and activation of MEK1 pathway by controlling intracellular levels of its product acetoacetate. - pmids: - - "26145173" - - text: "Presence of BRAF V600E associated with aggressive tumor features in Papillary thyroid carcinoma, including invasion, metastasis, advanced TNM stage at presentation, low response to radioiodine treatment, recurrence, and tumor-related mortality." - pmids: - - "26105190" - - text: "IRS2 copy number gain, IGF-1R, IR-A, and IGFBP6 RNA expression levels, and KRAS and BRAF mutational status were identified as candidate predictive biomarkers for response to BMS-754807." - pmids: - - "25527633" - - text: "Letter/Case Report: BRAF mutations in metanephric adenofibroma." - pmids: - - "26274032" - - text: BRAF mutation was not associated with negative prognostic indicators or adverse outcomes in PTC. - pmids: - - "24862939" - - text: The BRAF(V600E) mutation was significantly associated with lymph node metastasis and poor prognosis in papillary thyroid carcinoma. - pmids: - - "25468810" - - text: "All four tumors that recurred were LN+, with infiltrative borders, and lacked the BRAF mutation." - pmids: - - "25702102" - - text: "Compared with RAS or PAX8/PPARG-positive TCs, BRAFV600E or RET/PTC-positive Thyroid cancers were more often associated with stage III/IV disease and recurrence." - pmids: - - "26258321" - - text: BRAF-V600E mutations occur predominantly in female smokers with adenocarcinomas. - pmids: - - "26066373" - - text: BRAF mutations in NSCLC were significantly associated with adenocarcinomas . - pmids: - - "24979348" - - text: "The prevalence of rare BRAF mutations was 0.76% of all BRAF-positive thyroid cancers, and the rare mutations were associated with less aggressive pathologic features." - pmids: - - "25120313" - - text: "The SMOF412E mutation was not detected in ameloblastoma. The BRAFV600E-activating mutation is a common event in ameloblastomas, occurring regardless of site or histological type. This mutation is also detected in odontogenic carcinomas." - pmids: - - "25854168" - - text: "findings suggest that the BRAF(V600E) mutation can be detected using a PNA clamp real-time PCR in the blood of PTC[ papillary thyroid carcinoma ] patients with lung metastasis" - pmids: - - "25837167" - - text: suggests that PIK3CA mutations account for a small fraction of PI3K pathway activation and have a limited impact in interfering with the BRAF/NRAS-driven growth in melanoma - pmids: - - "25627962" - - text: Mutations in BRAF predict resistance to anti-EGFR therapies. - pmids: - - "24666267" - - text: "HPV presence was not associated with age, stage or grade of tumours, MSI or mutations in KRAS, TP53 or BRAF genes." - pmids: - - "25647260" - - text: BRAF mutation is associated with melanoma. - pmids: - - "24714776" - - text: BRAF mutations are associated with response to chemotherapy in cancer. - pmids: - - "24947927" - - text: This review will focus on the science and clinical findings related to targeted therapies that inhibit BRAF or MEK as well as the immunotherapies that block the CTLA-4 or PD-1 pathways - pmids: - - "25899612" - - text: "Data suggest that the two strands of the BRAF promoter region, the G-rich strand and the C-rich strand, fold into a predominant antiparallel G-quadruplex and into an i-motif, respectively, and that they can coexist at nearly physiological conditions." - pmids: - - "26143373" - - text: BRAF V600E immunostaining is a helpful marker for pediatric metanephric adenoma - pmids: - - "26014474" - - text: real-time PCR cycle threshold values for the BRAFV600E mutation obtained from fine needle aspirates can be associated with central lymph node metastasis in papillary thyroid microcarcinoma patients - pmids: - - "26181555" - - text: "The results from this prospective cohort study further support an influence of sex and lifestyle factors on different pathways of colorectal carcinogenesis, defined by KRAS and BRAF mutation status of the tumours." - pmids: - - "24918610" - - text: BRAF V600E mutation might be associated with right-sided tumors and subsequently related unexplained iron-deficiency anaemia (IDA) at presentation - pmids: - - "25862899" - - text: The percentage of mutant BRAF alleles in papillary thyroid carcinoma is significantly associated with tumor burden and extrathyroidal invasion. - pmids: - - "24748129" - - text: BRAF V600 mutations are associated with pathological features in Japanese melanoma patients - pmids: - - "25051202" - - text: "We show for the first time that this important pediatric tumor may harbor the oncogenic BRAFV600E mutation, providing the first insights to their personalized treatment." - pmids: - - "26122804" - - text: Report low rates of BRAF mutations in Chinese colorectal carcinoma patients. - pmids: - - "25663779" - - text: "The adenocarcinoma showed expression of CK20 and p53, but CK7 in patches. The molecular profile of the adenocarcinoma showed a mutation in KRAS and wild-type BRAF, which might be associated with malignant transformation of intracranial mature teratomas." - pmids: - - "25039399" - - text: our data indicate that preexisting MEK1(P124) mutations are associated with a reduced response to BRAF inhibitor therapy and identify a subset of patients with BRAF-mutant melanoma likely to benefit from combination therapies - pmids: - - "25370473" - - text: "KRAS and BRAF mutations are associated with inferior survival, independent of MSI status, in Japanese patients with curatively resected colorectal carcinoma." - pmids: - - "25632202" - - text: Overexpression of HO-1 in a subset of thyroid cancers is associated with tumour aggressiveness and BRAF V600E expression - pmids: - - "25262966" - - text: there is a lower incidence of brain metastases in patients with BRAF-mutated tumors who took vemurafenib before the diagnosis of brain metastases - pmids: - - "25426645" - - text: "By this integrated approach, we found that patients with BRAF V600E mutation responded very well to broad acting drugs and there was no relation to prognosis in early-stage myeloma" - pmids: - - "25794135" - - text: we identify that analysis of plasma and urinary cfDNA provides a reliable method to detect the BRAF(V600E) mutation and monitor response to therapy in these disorders. - pmids: - - "25324352" - - text: BRAFV600E mutation in primary tumor might be a promising molecular marker to predict the status of 131I uptake in distal metastases. - pmids: - - "24978326" - - text: 6 different BRAF missense mutations were found in 9 of 11 patients with cadiofaciocutaneous syndrome. - pmids: - - "25194980" - - text: The frequency of the BRAF mutation in cPTCs with suspicious US features was higher than that of cPTCs with negative US features regardless of the BSRTC. - pmids: - - "25404749" - - text: BRAF codon 600 mutations not found in Iranian prostate adenocarcinoma patients. - pmids: - - "26299074" - - text: We documented three novel mutations in the BRAF gene in cardio-facio-cutaneous syndrome patients and correlated clinical findings with causative mutations in the BRAF or MEK1/MEK2 genes - pmids: - - "25463315" - - text: "BRAF V600 appears to be a targetable oncogene in some, but not all, nonmelanoma cancers. Preliminary vemurafenib activity was observed in non-small-cell lung cancer and in Erdheim-Chester disease and Langerhans'-cell histiocytosis." - pmids: - - "26287849" - - text: loss of stem cell identity upon induction of BRAF/MAPK activity may represent a novel fail-safe mechanism protecting intestinal tissue from oncogene activation - pmids: - - "25109331" - - text: "This study confirmed the high frequency of KIAA1549:BRAF fusion in Pilocytic Astrocytomas." - pmids: - - "26083571" - - text: Study found BRAF V600E mutations in 81 percent of papillary craniopharyngioma sampled - pmids: - - "24715106" - - text: These observations led us to conclude that increased TSH signaling overcomes OIS and is essential for B-RafV600E-induced papillary thyroid carcinogenesis. - pmids: - - "25499223" - - text: This work supports the fact that BRAF V600 mutation is not implicated in meningioma tumorigenesis - pmids: - - "25817073" - - text: "KIT-mutated patients had a worse outcome than PDGFRA-mutated or triple-negative (KIT, PDGFRA, BRAF wild-type) cases" - pmids: - - "25970686" - - text: detection of BRAF V600E by immunohistochemistry is useful in the distinction of hairy cell leukemias from other splenic-based lymphomas - pmids: - - "26071465" - - text: "truncated RAF1 and BRAF proteins, recently described as products of genomic rearrangements in gastric cancer and other malignancies, have the ability to render neoplastic cells resistant to RTK-targeted therapy" - pmids: - - "25473895" - - text: "This is the largest study on the aggressive role of TERT promoter mutations in anaplastic thyroid cancer(ATC), demonstrating an association of TERT C228T with BRAF V600E, older patient age, and tumor distant metastasis in ATC." - pmids: - - "25584719" - - text: BRAF mutation in cutaneous malignant melanoma plays an important role in the development of skin cancer in Asians. population. - pmids: - - "25819940" - - text: Methylation of MLH1 is strongly associated with BRAF mutations in sporadic colorectal cancer. - pmids: - - "25176643" - - text: the first BRAF V600/601 and KRAS G12-K16 screening study in primary mediastinal B-cell lymphoma that failed to identify hotspot mutations in this specific subtype - pmids: - - "24397598" - - text: Multifunctional bioscaffolds for 3D culture of melanoma cells reveal increased MMP activity and migration with BRAF kinase inhibition. - pmids: - - "25870264" - - text: "analysis of BRAF 3'UTR isoforms in melanoma" - pmids: - - "25685929" - - text: The consistency of the BRAF gene mutation in peripheral blood and tissue is high. - pmids: - - "25450274" - - text: "In tDNA, 50 mutations (36 EGFR, 5 ERBB2, 4 KRAS, 3 BRAF, and 2 PIK3CA) were identified, of which 26 were detected in cfDNA. These data demonstrate the feasibility and potential utility of mutation screening in the detection of a range of tumor biomarkers" - pmids: - - "25013125" - - text: BRAF mutation is associated with melanoma nodal metastases and an unknown primary site. - pmids: - - "24866436" - - text: Our data suggest that the poor prognosis of dMMR is driven by the BRAF(MT) status. - pmids: - - "25139339" - - text: The presence of dermoscopic peppering and thicker Breslow index ulceration suggest a morphological consequence of immune behaviour in BRAF-mutated melanomas - pmids: - - "24749938" - - text: our study demonstrated the BRAF V600E mutation was an independent prognostic factor for colon cancer patients. - pmids: - - "25367198" - - text: Concluded that the presence of BRAF(V600E) mutation in papillary thyroid carcinoma could be preoperatively predictive of extrathyroidal invasion in a Chinese population. - pmids: - - "25400776" - - text: "In this retrospective analysis, triplet chemotherapy with OCX was well tolerated and achieved encouraging efficacy in metastatic colorectal cancer irrespective of RAS/RAF mutation status." - pmids: - - "25427581" - - text: BRAF V600E mutation is associated with refractory hairy cell leukemia. - pmids: - - "24789721" - - text: "Although there was large variability between patients, FDG uptake decreased with higher daily doses in patients with BRAFV600 mutation-positive melanoma" - pmids: - - "24958809" - - text: dual HSP90/TRAP1 inhibitor HSP990 showed activity against the TRAP1 network and high cytostatic potential in BRAF-mutated colorectal carcinoma cells - pmids: - - "25239454" - - text: The most important implication of these findings is that we could begin to treat patients with the BRAF V600E and CDKN2A alteration differently when they are first diagnosed than those with a lower risk for secondary high-grade glioma - pmids: - - "25818616" - - text: "Pediatric oligodendrogliomas (pODGs) can harbor the KIAA1549-BRAF fusion with aberrant MAPK/ERK signaling, and there exists an option of targeting these pathways in such patients." - pmids: - - "25794445" - - text: "ETV1 expression is a rare event in human melanoma and seems to be rather based on hyperactivation of MAPK signals, by BRAF (V600E) mutation, than on ETV1 gene amplification." - pmids: - - "25073704" - - text: Data show that a high proportion of cases of non-pulmonary Langerhans cell histiocytosis (LCH) and pulmonary LCH (PLCH) expressed the proto-oncogene protein B-raf (BRAF) V600E mutant protein. - pmids: - - "24471909" - - text: "The BRAF(V600E)mutation iss significantly associated with several poor clinicopathologic characteristics, but was not associated with sonographic features, regardless of thyroid tumor size." - pmids: - - "25337709" - - text: Report BRAF mutation status in colorectal neoplasms and neuroendocrine differentiation in primary/metastatic colorectal neoplasms. - pmids: - - "25337237" - - text: PTEN loss was significantly associated with OS and time to MBM in patients with BRAF(V600) mutations. - pmids: - - "25165098" - - text: "Study reports that mice engineered to overexpress either the full-length murine B-Raf pseudogene Braf-rs1 and its human ortholog, BRAFP1, elicit their oncogenic activity, at least in part, as competitive endogenous RNAs (ceRNAs) that elevate BRAF expression and MAPK activation in vitro and in vivo." - pmids: - - "25843629" - - text: Activating FGFR2-RAS-BRAF mutations play a critical role in the pathogenesis of most cases of ameloblastoma. - pmids: - - "24993163" - - text: BRAF mutation status was obtained for 146/160 cases. Overall mutation rate was 24/88 (27.3%) in primary and 25/58 (43.1%) in metastatic melanoma. V600E was the predominant mutation in 21/24 (87.5%) of primary and 23/25 (92%) of metastatic melanomas. - pmids: - - "25262755" - - text: "Targeted sequencing on primary, metastatic, and normal tissue from colorectal cancer patients found a high degree of concordance for KRAS, NRAS, and BRAF mutations that were identical in both the primary and metastatic tumors." - pmids: - - "25164765" - - text: "Case Report: KRAS mutated pancreatic adenocarcinoma developing on treatment with combined BRAF and MEK inhibition for metastatic melanoma." - pmids: - - "24821886" - - text: This study demonstrates that IHC analysis is a very sensitive test for evaluation of BRAF mutations in metastatic malignant melanoma and may be useful as an initial screening test. - pmids: - - "25046227" - - text: "genetic association studies in a population in Iran: Data suggest that a mutation in BRAF (V600E) is associated with prognosis of paritents with papillary thyroid carcinoma." - pmids: - - "24679337" - - text: BRAF V600E allele frequency is associated with papillary thyroid cancer progression. - pmids: - - "25266729" - - text: we detected 15 additional mutated melanoma samples and two additional BRAF V600E mutations in metastatic colorectal cancer samples by the LightMix assay compared to Sanger sequencing. - pmids: - - "25318602" - - text: "BRAF mutations were found in 8.7% of colorectal cancer precursor lesions, mainly associated with serrated polyps and absent in adenomas. In CRC cases, 6.5% exhibited BRAF mutation." - pmids: - - "25050586" - - text: BRAF mutations are virtually absent in melanomas originating from the vulva or vagina - pmids: - - "24603591" - - text: analysis of BRAF mutation and CDKN2A deletions in childhood secondary high-grade glioma - pmids: - - "25667294" - - text: "Preoperative targeted therapy of advanced BRAF-mutant melanoma is feasible, well tolerated, induces brisk tumor responses, and facilitates correlative science." - pmids: - - "25797743" - - text: No BRAF mutations were detected in the lesions of 18 cases - pmids: - - "25031736" - - text: "amuvatinib has proapoptotic activity against melanoma cell lines, with selectivity observed for those harboring oncogenic NRAS but not BRAF" - pmids: - - "24950457" - - text: "Report increased frequency of BRAF proto-oncogene hot spot mutation V600E in cohort of colorectal cancer patients from Ahvaz City, southwest Iran." - pmids: - - "25911848" - - text: suboptimal specificity and PPV limits the diagnostic utility of both antibodies to reliably detect BRAF p.V600E mutations in thyroid carcinoma - pmids: - - "24897065" - - text: Data support a role for BRAF V600E immunohistochemistry in diagnostically challenging cases of metanephric adenoma and expand the spectrum of BRAF exon 15 mutations in this uncommon but unique renal neoplasm. - pmids: - - "25602792" - - text: "Suggest that continuing vemurafenib treatment beyond progression may be beneficial in BRAF V600 mutated advanced melanoma patients, who prior to progression responded to vemurafenib." - pmids: - - "25690538" - - text: "BRAF mutational analysis was performed on tissue from 104 patients: 90 with sarcoma only and 14 with sarcoma and melanoma. In the sarcoma-melanoma group, three sarcomas showed BRAF mutation." - pmids: - - "24117833" - - text: Report predictive value of immunohistochemistry in detecting BRAF mutations in neoplasms. - pmids: - - "25634750" - - text: Report BRAF VE1 immunoreactivity patterns in epithelioid glioblastomas positive for BRAF V600E mutation. - pmids: - - "25581727" - - text: Common BRAF mutations are not present in systemic mastocytosis patients. - pmids: - - "25034364" - - text: "evaluated the potential role of XIAP expression as a novel prognostic marker to predict recurrence, in combination with the BRAF(V600E) mutational status in papillary thyroid cancer" - pmids: - - "24124924" - - text: "Review/Meta-analysis: findings support BRAF mutation assessment before initiation of treatment with anti-EGFR monoclonal antibodies." - pmids: - - "25673558" - - text: BRAF V600E mutations occurs infrequently in endometrial cancer. - pmids: - - "23880961" - - text: mutated KRAS and mutated BRAF seem to be prognostic factors in patients with Colorectal cancer who undergo lung metastasectomy. - pmids: - - "25688918" - - text: Findings suggest a link between Langerhans cell histiocytosis and Erdheim-Chester disease involving the BRAF(V600E) mutation. - pmids: - - "24894769" - - text: "BRAF mutations occurred in 2.2% of advanced-stage lung adenocarcinomas, were most commonly V600E, and were associated with distinct clinicopathologic features in comparison with other genomic subtypes and with a high mutation rate in more than 1 gene." - pmids: - - "25273224" - - text: Data indicate an independent prognostic value of BRAF V600E mutation for papillary thyroid cancer (PTC) recurrence in various clinicopathologic categories. - pmids: - - "25332244" - - text: "In the management of thyroid nodules with benign cytology but positive BRAF(V600E) mutation, thyroidectomy should be considered in nodules which have 2 or more suspicious US features and are considered discordant on image-cytology correlation." - pmids: - - "25616949" - - text: "melanoma cell lines selected for resistance to BRAFi+MEKi, but not those to BRAFi alone, displayed robust drug addiction, providing a potentially exploitable therapeutic opportunity." - pmids: - - "25600339" - - text: "Data demonstrate that the BRAF(V600E) cooperates with either PIK3CA(H1074R) or with silencing of the tumor-suppressor PTEN, to promote development of anaplastic thyroid carcinoma." - pmids: - - "24770869" - - text: "Using the PCR test with sense allele-specific primers, mutations in V600 were found in 33 of 51 Russian patients (64.7%) with cutaneous melanoma." - pmids: - - "24922189" - - text: "Aberrant expression of A-, B-, and C-RAF, and COT is frequent in PTC; increased expression of COT is correlated with recurrence of PTC." - pmids: - - "25674762" - - text: did not find a negative prognostic impact of a positive BRAF V600E mutation status on survival in papillary thyroid cancer - pmids: - - "25482468" - - text: Melanomas with associated naevi have a higher frequency of BRAF(V600E) mutations than melanomas unassociated with naevi. - pmids: - - "24614711" - - text: The frequency of KRAS and BRAF mutations was low; KRAS mutations were detected in 1.6% and BRAF mutations in 4.7% of the biopsies for anal carcinoma. - pmids: - - "25244542" - - text: BRAF overexpression could be an independent factor causing tumorigenesis in gliomas regardless of phospho-EGFR expression. - pmids: - - "25618114" - - text: colorectal cancers with a BRAF mutation have distinct molecular features and resulted in a poor prognosis in Korean patients with advanced colorectal cancer - pmids: - - "24764675" - - text: BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas. - pmids: - - "25346165" - - text: "Considering the diagnostic performance and low reproducibility of US, the combination of FNA with BRAFV600E is the most reliable and objective method for diagnosing thyroid malignancy." - pmids: - - "24954313" - - text: Anti-apoptotic BCL-2 proteins govern cellular outcome following B-RAF(V600E) inhibition and can be targeted to reduce resistance. - pmids: - - "24608435" - - text: report of a new IDH1 mutation associated with BRAF mutation in a very unusual glial tumor. - pmids: - - "24857351" - - text: "KRAS, BRAF, and PIK3CA mutations were evaluated in 204 colorectal carcinoma samples; the frequency of KRAS, BRAF, and PIK3CA mutations was 23.5, 9.8, and 5.9 %, respectively." - pmids: - - "25073438" - - text: Preanalytical workflow optimisation may reduce errors in down-stream sequencing in BRAF mutation detection. - pmids: - - "25430497" - - text: "analysis of RAS, RET/PTC, and BRAF mutations in advanced stage of papillary thyroid carcinoma" - pmids: - - "24798740" - - text: "BRAF V600E mutation is a rare event in biliary tract cancer, accounting for only 1% of all subtypes, and is restricted to intrahepatic cholangiocarcinoma." - pmids: - - "24309328" - - text: BRAF mutation in FVPTC is associated with unfavourable clinicopathological characteristics and malignant features on ultrasonography and may be a potential prognostic factor as it is in classical PTC. - pmids: - - "24548081" - - text: "BRAF(V600E) mutation is not a useful prognostic marker, though it does influence the short- and medium-term outcomes of classic papillary thyroid cancer" - pmids: - - "24787545" - - text: the BRAF pathway may contribute to the pathogenesis or malignant transformation of histiocytic and dendritic cell neoplasms. - pmids: - - "24720374" - - text: Shifted termination assay fragment analysis can detect BRAF V600 mutations in formalin-fixed paraffin-embedded papillary thyroid carcinoma samples. - pmids: - - "23883275" - - text: "BRAF V600E mutation affects patients with large/giant congenital melanocytic nevi, and with neurocutaneous melanocytosis, a novel finding." - pmids: - - "25490715" - - text: Multiple potential therapeutic targets were identified in metastatic unknown primary and cutaneous melanomas that lacked BRAFV600 and NRAS mutations - pmids: - - "25148578" - - text: V600E mutations in 8/15 bile duct adenomas - pmids: - - "24634053" - - text: The association between a host response and lymphovascular invasion and microvessel density in primary cutaneous melanoma with a BRAF mutation suggests that they exhibit potential for strategizing immunotherapies - pmids: - - "25537974" - - text: BRAF V600E mutation is related to lack of response and worse survival in wild-type KRAS metastatic colorectal cancer patients treated with anti-EGFR MoAbs. - pmids: - - "25429742" - - text: "Targeted therapy in BRAF mutated melanoma; treatment with BRAF inhibitors and in combination with MEK inhibitors. [Review]" - pmids: - - "25180764" - - text: BRAF V600E mutation status did not correlate with any clinicopathological parameters - pmids: - - "25442222" - - text: "Together, this work provides formal proof of an allosteric link between the RAF dimer interface, the activation segment and the catalytic infrastructure." - pmids: - - "25437913" - - text: "BRAFV600E intratumor and intrapatient heterogeneity in melanoma is diminutive, nevertheless, the identified exceptions will have important implications for the clinical management of this disease." - pmids: - - "25526463" - - text: Enforced expression of RAC1 P29S in sensitive BRAF-mutant melanoma cell lines confers resistance manifested by increased viability. - pmids: - - "25056119" - - text: The combined BAP1-BRAFV600E+ immunoprofile appears to be a constant feature of BAP1 tumor syndrome-associated melanocytic lesions - pmids: - - "25479927" - - text: B-RAF mutations were frequently detected in aberrant crypt foci. - pmids: - - "25314065" - - text: BRAF V600 mutation is associated with melanoma. - pmids: - - "25499274" - - text: "SOX2 expression is partly regulated by BRAF signalling, and an increased SOX2 expression may promote CRC metastasis and mediate a poor patient prognosis" - pmids: - - "25010701" - - text: "Results suggest tha tthe pathological progression from Serrated adenoma through colon carcinoma required the successive events: mutations in BRAF protein, hypermethylation of MLH1 then hypermethylation in AXIN2." - pmids: - - "24964857" - - text: combination of microsatellite instability and BRAF status serves as both a prognostic and predictive marker and may provide much-needed guidance during the planning of therapeutic strategies - pmids: - - "25154726" - - text: "While frequency rates of BRAF mutations were quite identical across the different MPM lesions, a significant increase of cKIT (p<0.001) and CyclinD1 (p=0.002) amplification rates was observed between first and subsequent primary melanomas" - pmids: - - "24885594" - - text: The study found a BRAF(V600E) mutation frequency of 54% (seven of 13) in brainstem gangliogliomas. - pmids: - - "24238153" - - text: study found CYP24A1 expression was increased in papillary thyroid carcinoma compared to benign multinodular goitre; expression was further increased in stage III and IV tumours; a strong correlation found between CYP24A1 overexpression and BRAF(V600E) mutation - pmids: - - "24382015" - - text: Data indicate that dual targeting of heat-shock proteins 90 (Hsp90) and BRAF(V600E) kinase provided combinatorial benefit in vemurafenib-sensitive melanoma cells in vitro and in vivo. - pmids: - - "24398428" - - text: V600E BRAF mutation is associated with synchronous and metachronous thyroid cancer coexisting with Langerhans cell histiocytosis. - pmids: - - "25156525" - - text: We conclude that a high proportion of PTC cases likely harbors the BRAF V600E mutation. This mutation can be used as an independent factor for predicting the recurrence and distal metastasis of PTC tumors. - pmids: - - "24301760" - - text: BRAF V600E inhibited NIS expression by the upregulation of its promoter methylation. Specific regions of CpG islands of NIS promoter in BRAF V600E harboring papillary thyroid carcinoma were highly methylated compared with surrounding normal tissue. - pmids: - - "25378232" - - text: BET inhibition with I-BET151 appears independent of the BRAF and NRAS mutational status of melanoma - pmids: - - "24906137" - - text: Results show that BRAF-mutated patients were significantly younger at the time of primary melanoma and first diagnosis of metastasis than BRAF wild-type patients but BRAF mutation is not associated with a more aggressive illness. - pmids: - - "24926836" - - text: Studies indicate that the role of proto-cncogene protein B-raf-MEK-ERK pathway in controlling cell fate as a primary target for deregulated activation in cancer. - pmids: - - "24664307" - - text: The B-Raf(V600E) inhibitor dabrafenib selectively inhibits RIP3 and alleviates acetaminophen-induced liver injury. - pmids: - - "24901049" - - text: BRAF(V600E) mutation is associated with papillary thyroid carcinoma. - pmids: - - "25156883" - - text: The 5-year survival rate of colorectal cancer patients with BRAF mutations was significantly decreased. - pmids: - - "24942334" - - text: "This study investigated the impact of KRAS, NRAS, BRAF, PI3KCA and TP53 status on outcome of elderly metastatic colorectal cancer patients" - pmids: - - "23821376" - - text: Lymph node specimens with low tumor cellularity due to numerous adjacent lymphocytes may pose a challenge to clinical detection of BRAF mutations of melanoma. - pmids: - - "25456393" - - text: this study supports the idea that additional NK cell-based immunotherapy (by checkpoint blockade or agonists or cytokines) may combine well with BRAF(V600E) inhibitor therapy to promote more durable responses in melanoma. - pmids: - - "25351955" - - text: To detect whether the V600E mutation is present or absent in the BRAF gene in melanoma patients is an important component in the evaluation of the biological behavior of tumor cells and their performance of biologically significant functions. - pmids: - - "25543407" - - text: "Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma." - pmids: - - "24703243" - - text: "BRAF V600E mutation positive pediatric posterior fossa gangliogliomas exhibit no unique imaging features, are associated with shorter progression-free survival, and carry promising treatment implications by BRAF inhibitors" - pmids: - - "24792487" - - text: A high discordant rate was found in Braf mutation statuses between primary and metastatic cutaneous melanoma lesions. - pmids: - - "25236573" - - text: BRAF-V600 mutations are not associated with response to chemotherapy in stage IV melanoma. - pmids: - - "24586605" - - text: Both the CRP single nucleotide polymorphism rs7553007 and KRAS/BRAF mutations were independent prognostic factors for colorectal cancer patients with synchronous liver metastasis. - pmids: - - "23755178" - - text: long-term treatment with BRAF inhibitors can affect the interaction between BRAF/MAPK and Wnt/beta-catenin signaling to affect patient outcomes - pmids: - - "24733413" - - text: Overexpression of BRAF(V600E) in normal thyroid epithelial (H tori) cells also reduced the effects of Dkk-1 on cell survival. - pmids: - - "24848709" - - text: "This study indicated that mutations of KRAS, PIK3CA and NRAS were rare in advanced gastric cancer." - pmids: - - "24774510" - - text: Genetic targeting of BRAF Valine600Aspartate drug resistance mutation identifies dabrafenib as a selective agent against BRAF-resistant colorectal cancer cells. - pmids: - - "24885690" - - text: "Treatment of HCL patients with vemurafenib, an inhibitor of mutated BRAF, resulted in normalization of HSPC frequencies and increased myeloid and erythroid output from HSPCs" - pmids: - - "24871132" - - text: Data reveal a mechanism by which BRAF(V600E) and PI3K signaling cooperate to regulate melanoma proliferation through AKT-independent effects on protein translation. - pmids: - - "24425783" - - text: BRAF(V600E) mutation demonstrated to be an adverse prognostic factor indicating aggressiveness of papillary thyroid carcinoma - pmids: - - "24721322" - - text: Characteristics and prognosis of colorectal cancer with NRAS mutations are different from those with KRAS or BRAF mutations. - pmids: - - "24806883" - - text: The mutations of EGFR and BRAF genes were not found in HER2-mutated patients with brain metastasis from non-small cell lung cancer. - pmids: - - "23744164" - - text: activating V600E BRAF mutation can be frequently demonstrated in pediatric Langerhans cell histiocytosis - pmids: - - "25118810" - - text: 33% of Langerhans cell histiocytosis cases with wild-type BRAF and none with BRAFV600E harbored somatic mutations in MAP2K1 (6 in-frame deletions and 1 missense mutation) that induced extracellular signal-regulated kinase (ERK) phosphorylation in vitro. - pmids: - - "25202140" - - text: "From a practical perspective, small biopsies may not adequately represent a tumor's full mutational profile, particularly for later arising but prognostically important mutations such as those in the KRAS and BRAF genes" - pmids: - - "24742923" - - text: "genetic association study in population in Italy: Data suggest rare BRAF variants (found in 1.6% of all thyroid malignancies) cluster around codon V600 in binding pocket named A-loop of kinase domain leading to greater stability of BRAF conformation." - pmids: - - "24295088" - - text: this study sheds light on the pathogenesis of Serous borderline tumor ovarian tumors by showing that BRAF mutation is associated with cellular senescence - pmids: - - "25188864" - - text: "Based on this methodology and other published results for the BRAF mutation, we believe that it is now feasible and cost effective for the UK NHS to BRAF co-test all Thy4/Bethesda Class V thyroid FNAs." - pmids: - - "24164374" - - text: A combined inhibition strategy targeting BRAF together with multiple erbB family kinases is potentially beneficial for treating BRAF V600E mutant melanoma. - pmids: - - "24709886" - - text: "BRAF mutational analysis by melt curve analysis is feasible in routine thyroid cytology, and in our series had a 100% specificity for PTC in subsequent histology. The application of BRAF analysis could be useful for indeterminate cytology" - pmids: - - "24417615" - - text: Data indicate that BRAF protein overexpression was significantly associated with thyroid extracapsular extension (ECE) and lymph node metastasis (LNM) positive cases. - pmids: - - "24863948" - - text: Serrated colorectal carcinoma as proposed to arise from serrated adenoma is characterized by mutation of BRAF. - pmids: - - "24612059" - - text: "12% of KRAS negative colorectal cancer showed BRAF gene mutation. Considering that 42% of samples have a KRAS mutation, 54% of patients should not respond to therapies with monoclonal antibodies directed against epidermic growth factor (EGFR) pathway." - pmids: - - "24861115" - - text: "Coexisting BRAF V600E and TERT C228T mutations form a novel genetic background that defines PTC with the worst clinicopathologic outcomes, providing unique prognostic and therapeutic implications." - pmids: - - "25024077" - - text: BRAF mutation cannot be regarded as a reliable marker of node metastases in patients with PTC. - pmids: - - "24839220" - - text: we identify KIAA1549-BRAF gene fusions in 45 % of 82 low-grade glioma samples - pmids: - - "24532263" - - text: "Although the sensitive pyrosequencing method was used, no EGFR, KRAS or BRAF mutations could be found" - pmids: - - "24560515" - - text: BRAF mutant/microsatellite stable (MSS) (BRAFmut/MSS) cancers (n = 33) and BRAF mutant/microsatellite unstable (MSI) (BRAFmut/MSI) cancers (n = 30) were compared for presence of copy number aberrations (CNAs) indicative of chromosomal insatbility. - pmids: - - "24651849" - - text: B-cell receptor functions differ in hairy cell leukemia displying BRAF V(600)E and mutated IGHV. - pmids: - - "24497953" - - text: analysis of a possible association between AID expression and BRAF mutation in melanoma - pmids: - - "24684646" - - text: "Although both, DTIC and TMZ act as alkylating agents through the same intermediate, NRAS and BRAF mutant cells responded differentially only to DTIC." - pmids: - - "24941944" - - text: Our results indicate a cross-talk between Braf and p300 in melanoma and demonstrate the importance Braf and p300 expression in the diagnosis and prognosis of melanoma. - pmids: - - "24893747" - - text: "Although BRAF mutation appears to play a role in local tumour progression, it is not a risk factor for poor prognosis or tumour recurrence in papillary thyroid carcinoma" - pmids: - - "23845288" - - text: "Molecular genetic analysis revealed BRAF duplication and a KIAA1549-BRAF fusion gene in 82% of group II tumors, but in none of the group I tumors, and a BRAF:p.V600E mutation in 43% of group I tumors, but in none of the group II tumors" - pmids: - - "24529209" - - text: "In our Near Eastern cohort, the BRAF mutation rate varied significantly by geographic location. In patients with multiple dysplastic nevi examined, discordant BRAF mutation status potentially negates an underlying constitutional predilection" - pmids: - - "23906414" - - text: KRAS and BRAF genes were wild-type in all squamous cell anal carcinoma cases. - pmids: - - "24642661" - - text: Response to this therapy suggests that BRAF inhibitors can affect primary CNS lesions when a documented and targetable mutation is present. - pmids: - - "24725538" - - text: Our results highlight the low incidence of BRAF mutations and CIMP in CRC from Saudi Arabia. - pmids: - - "25005754" - - text: Data indicate that BRAF mutant status and number of positive lymph nodes as the only independent prognostic factors for recurrence-free (RFS) and disease-specific survival (DSS). - pmids: - - "25070294" - - text: NRAS expression and increased MAPK activation drive vemurafenib resistance in V600E BRAF+ve melanoma. - pmids: - - "25063807" - - text: "Our results demonstrated that the BRAF V600E mutation is a common event in melanomas, representing an important molecular target for novel therapeutic approaches in such tumors." - pmids: - - "24535907" - - text: there was no correlation between BRAF-positive primary focus of papillary microcarcinoma and more aggressive or recurrent disease - pmids: - - "24354346" - - text: AKTi combined with BRAFi-based therapy may benefit patients with tumors harboring BRAF mutations and particularly PTEN deletions or AKT mutations. - pmids: - - "24735930" - - text: "BRAF-mutant mCRC is associated with worse clinical outcome. Patients with BRAF-mutant tumors develop peritoneal metastases, less frequently present with disease limited to the liver, and have shorter survival after metastasectomy." - pmids: - - "24737664" - - text: a novel role for B-Raf in the selective regulation of alpha4beta1 integrin-mediated adhesion. - pmids: - - "24936068" - - text: correlation between KRAS or BRAF mutations and prognosis was not observed - pmids: - - "24372748" - - text: No mutations were found in the BRAF gene in a cohort of 84 patients affected by squamous cell anal cancer - pmids: - - "24122611" - - text: "Prevalence of BRAF mutations in CRC patients is not high but extremely correlated with MSI and risk categories as BG, whereas they are absent in LS patients." - pmids: - - "25076244" - - text: Disruption of mutated BRAF signaling modulates thyroid cancer phenotype. - pmids: - - "24673746" - - text: "This study demonstrated that temporal location, reticulin deposition and CD34 expression are associated with BRAF mutation in pleomorphic xanthoastrocytoma." - pmids: - - "24345274" - - text: A novel mechanism for response was discovered whereby high expression level of CAV-1 at the plasma membrane disrupts the BRaf/CRaf heterodimer and thus inhibits the activation of MAPK pathway during dasatinib treatment. - pmids: - - "24486585" - - text: X-ray crystallography reveals a regulatory role for BRAF in the MAPK pathway independent of its kinase activity but dependent on interaction with MEK. - pmids: - - "25155755" - - text: Resistance mechanisms were identified in 58% progressing tumors and BRAF alterations were common. Gene expression analysis revealed that mitogen-activated protein kinase (MAPK) activity remained inhibited in 21% of resistant tumors. - pmids: - - "24463458" - - text: 710 melanomas included in the study were located in sun non-exposed regions of the skin; this category of tumors was characterized by the highest occurrence of BRAF mutations - pmids: - - "25306614" - - text: "Results reveal a BRAF(V600E)-directed pathway that mediates silencing of MLH1 and, more generally, is responsible for CpG Island Methylator phenotype." - pmids: - - "25219500" - - text: Braf(V600E)-driven tumors become addicted to autophagy as a means to preserve mitochondrial function and glutamine metabolism - pmids: - - "24362353" - - text: BRAF and NRAS mutation status does not influence survival in metastatic melanoma. - pmids: - - "24918823" - - text: "Despite being an independent predictor of central node metastasis in small papillary thyroid carcinoma, BRAF did not add substantially to the overall prediction of occult central node metastasis." - pmids: - - "24402044" - - text: "BRAF V600E mutated tumour cells was detected in the cortical tumour component, pronounced leptomeningeal tumoural stroma was predominantly negative for VE1 binding. BRAF V600E mutation affects a subset of desmoplastic infantile astrocytoma/ganglioglioma." - pmids: - - "23822828" - - text: BRAF-mutation analysis should be part of the subtyping of non-squamous NSCLC. - pmids: - - "24552757" - - text: This study shows that BRAF mutation occurs in Nigerian colorectal cancers. - pmids: - - "23310942" - - text: Meta-analysis demonstrated that the BRAF V600E mutation was significantly correlated with adverse pathological features of colorectal cancer and distinct clinical characteristics. - pmids: - - "24594804" - - text: Rapidly metastasizing malignant melanoma characterized by a rare BRAF mutation not responding to vemurafenib - pmids: - - "24238398" - - text: "BRAF V600E immunohistochemistry is reliable for the evaluation of mutational status in colorectal carcinoma regardless of site or prior treatment history, and staining shows a high degree of intratumoral homogeneity." - pmids: - - "24921639" - - text: BRAF V600E is heterogeneously distributed in some papillary thyroid carcinomas(PTCs). The large BRAF V600E neoplastic cell subpopulations found in mutated cases is consistent with the view that the BRAF V600E is acquired early during PTC development. - pmids: - - "24780046" - - text: "BRAF V600E mutations may be more prevalent than previously thought in pediatric patients with papillary thyroid carcinoma, but do not correlate with aggressive disease characteristics" - pmids: - - "24604709" - - text: The BRAF mutation was positive in 37 % of papillary thyroid carcinoma patients. It had no prognostic impact. Cause-specific survival of mutation-positive high-risk patients was poorer than CSS of mutation-negative high-risk patients. - pmids: - - "24052184" - - text: "Mutational events as well as over-expression of BRAF gene are highly implicated, independently, in the pathogenesis of thyroid cancer." - pmids: - - "24442520" - - text: Increased BRAF mutation is associated with colorectal cancer progression and poor response to therapy. - pmids: - - "24659028" - - text: The present study demonstrates that concomitant BRAF mutation and RET/PTC rearrangement is a frequent event in papillary thyroid carcinoma. - pmids: - - "23806056" - - text: BRAF signalling increases Mcl-1 expression in cutaneous metastatic melanoma - pmids: - - "24118207" - - text: "BRAF mutation decreases tumor response in first-line treatment whether cetuximab was given or not in patients with KRAS wild-type, and anti-EGFR MoAb produces a clear benefit in response rate in patients with BRAF and KRAS wild-type." - pmids: - - "24390240" - - text: no significant survival differences were found according to BRAF-V600 tumor mutations in patients with primary melanoma. - pmids: - - "24475086" - - text: The study identifies the BRAFV600E mutation as a significant molecular alteration in malignant peripheral nerve sheath tumors. - pmids: - - "24366910" - - text: RAC1b overexpression constitutes a marker of poor prognosis in KRAS/BRAF WT mCRC patients treated with first-line FOLFOX/XELOX therapy. - pmids: - - "24833563" - - text: "Although VE1 antibody can be useful in the screening of colon carcinomas for BRAF V600E-mutant proteins, molecular genetic confirmation is always necessary for mutation diagnosis." - pmids: - - "24832158" - - text: B-RAF increases the cell surface protein abundance and activity of the type II Na+-coupled phosphate transporters NaPi-IIa and NaPi-IIb. - pmids: - - "24258620" - - text: Molecular genetic tests revealed BRAF V600E mutation. - pmids: - - "24353007" - - text: B-RAF is a powerful regulator of hERG channel activity and cell surface hERG protein abundance. - pmids: - - "24475291" - - text: MSI and the BRAF(V600E) mutation have a prognostic impact in colon cancer - pmids: - - "24964758" - - text: findings suggest that subcategorization of AUS by cytomorphology and BRAF V600E mutation status is important for predicting the risk of malignancy - pmids: - - "24619974" - - text: "Although it has limitations, the VE1 antibody represents a feasible first-line approach for evaluating BRAF mutation status and may be a valid tool in the selection of samples for molecular analysis" - pmids: - - "24639117" - - text: "Classification of serrated lesions using immunohistochemical evaluation of BRAF V600E mutation may identify lesions with higher potential to progression into sessile serrated adenoma/polyp, and further to BRAF V600E-mutated colorectal cancer." - pmids: - - "23887306" - - text: document two rare cases of massively metastatic spinal cord GGs in adult patients who were negative for BRAF V600E mutations via multiple methods - pmids: - - "25015869" - - text: The B-RafV600E mutation detected in melanoma is not associated with a chronic exposure to the sun. - pmids: - - "24424406" - - text: "BRAF mutation appears to be associated with distinct, unfavourable clinicopathological characteristics in colorectal cancer - systematic review and meta-analysis" - pmids: - - "24112392" - - text: BRAF-V600E mutation is associated with younger glioblastoma patients. - pmids: - - "24311634" - - text: This study confirms that the BRAF mutation is differentially detected in each variant of papillary thyroid cancer and is strongly correlated with unfavorable clinicopathologic factors. - pmids: - - "23496275" - - text: BRAF mutation rates varied by geographic location but not based on UV radiation - pmids: - - "23782679" - - text: The presence of BRAF mutations is positively associated with advanced tumor stage in African American colorectal cancer patients. - pmids: - - "24440976" - - text: The study found a high concordance of BRAF mutation status between paired metastases diagnosed at different time points. - pmids: - - "23855428" - - text: "BRAF mutation was significantly associated with a larger tumor size, extrathyroidal invasion and lymph node metastasis in papillary thyroid cancer." - pmids: - - "24559116" - - text: BRAF(V600) mutation is associated with melanoma. - pmids: - - "24958825" - - text: analysis of BRAF mutation and DNA methylation markers on fine needle aspiration biopsy specimens may be a useful strategy to facilitate the diagnosis of malignant thyroid neoplasm - pmids: - - "24588959" - - text: BRAF mutation is asociated with ameloblastoma. - pmids: - - "24859340" - - text: Report detection of BRAF mutations eligible for therapy with vemurafenib in melanoma patients. - pmids: - - "24410877" - - text: BRAF mutation is associated with esophageal squamous cell carcinoma. - pmids: - - "23274581" - - text: "BRAF fusions define a new molecular subset of melanoma, potentially comprising 4% to 8% of \"pan-negative\" cases." - pmids: - - "24345920" - - text: BRAF V600E-mutated protein may be valuable in the diagnostic evaluation of these glioneuronal lesions and the observed association with mTOR activation may aid in the development of targeted treatment involving specific pathogenic pathways - pmids: - - "23941441" - - text: "Summing up the results about the KRAS and the BRAF mutation carriers from our study, the portion of potentially non responsive colorectal cancer patients for the anti-EGFR treatment is 28.26%." - pmids: - - "23849768" - - text: A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. - pmids: - - "24265152" - - text: The finding of BRAF mutations in meningeal melanocytomas points to a potential initiating role of BRAF in transformation toward malignancy and could have therapeutic implications in these specific melanocytomas. - pmids: - - "24493731" - - text: BRAF mutations were correlated with poor overall survival in the full patient cohort - pmids: - - "23188063" - - text: Detection of BRAF(V600E) in cytology specimens by pyrosequencing is a useful diagnostic adjunctive tool in the evaluation of thyroid nodules also in elderly subjects - pmids: - - "24267957" - - text: "The kinase activity of BRAFV600E/L505H was higher than that of BRAFV600E, resulting in cross-resistance to a MEK inhibitor" - pmids: - - "24112705" - - text: Frequency of somatic BRAF mutations in melanocytic lesions from patients in a CDK4 melanoma family. - pmids: - - "24256466" - - text: "The KRAS mutation is not present in about one-third of CRC patients, and therefore other gene mutations need to be investigated to better understand the molecular mechanisms of CRC and its treatment." - pmids: - - "24356563" - - text: "BRAF p.V600E colon tumors showed significant MEIS1 promoter methylation, which was associated with decreased MEIS1 gene expression." - pmids: - - "24244575" - - text: The overall survival rate was not significantly different between patients with wild-type BRAF and those with V600E or non-V600E BRAF mutations in an Asian cohort. - pmids: - - "24297085" - - text: results provide evidence that constitutively activated BRAF(V600E) drives aberrant proliferation of monocyte-lineage cells. - pmids: - - "24152792" - - text: BRAF(V600E) mutation is not associated with papillary thyroid microcarcinoma. - pmids: - - "24228637" - - text: "In this large cohort, we found TERT promoter mutations to be common, particularly in Follicular thyroid carcinoma and BRAF mutation-positive papillary thyroid carcinoma, and associated with aggressive clinicopathological characteristics." - pmids: - - "24617711" - - text: "BRAF V600E-mutation in metastatic colorectal cancer characterizes a subgroup of patients with distinct biologic, clinical and pathological features and is associated with very poor patients' prognosis." - pmids: - - "24367680" - - text: BRAF mutation in papillary thyroid carcinoma determined by IHC is associated with significantly increased risk of lymph node recurrence. - pmids: - - "24247620" - - text: We conclude that a V600E BRAF mutation may not be helpful in distinguishing sporadic from MTS-associated sebaceous neoplasms - pmids: - - "24767862" - - text: "When supplemented with other noninvasive test methods, the B-RAF(V600E) test could be a powerful adjunct with extensive clinical applications for diagnosis of thyroid nodules. (review)" - pmids: - - "24167125" - - text: A subset of patients with RAS(wt) CMML harbors BRAF kinase domain mutations that are potentially capable of activating the MAPK signaling pathway. - pmids: - - "24446311" - - text: "results probably indicate that BRAF mutation may not be the only key factor in melanoma tumorigenesis, and that there should be multiple alternative genetic pathways related to melanoma" - pmids: - - "24471189" - - text: BRAF mutation as a new serum marker for papillary thyroid carcinomas were not detectable in patientts diagnosed with thyroid neoplasms. - pmids: - - "23161556" - - text: Prevalence and distribution of pathogenetic mutations in BRAF and NRAS genes were evaluated in multiple melanoma lesions from patients with different geographical origin within the same Italian population. - pmids: - - "23987572" - - text: Mutation occurs at similar frequencies as NRAS in acral lentiginous melanoma of Swedish patients - pmids: - - "23993026" - - text: High rate of BRAF-KIAA1549 fusion is associated with pilocytic astrocytoma. - pmids: - - "24057326" - - text: BRAF mutation is associated with atypia of undetermined significance and papillary carcinoma. - pmids: - - "24591408" - - text: Report safety of vemurafenib in diverse population of patients with BRAF(V600) mutated metastatic melanoma. - pmids: - - "24582505" - - text: analysis of pro-death autophagic processes responsible for sensitization of BRAF-V600E glioma cells toward UAI-201 - pmids: - - "24721513" - - text: "The BRAF mutation represents an additional risk factor only in some subpopulations of colorectal cancers, in others having limited prognostic value." - pmids: - - "24073892" - - text: BRAF(V600E) mutation is predictive for distant metastasis in papillary thyroid carcinoma but not positively. - pmids: - - "23981603" - - text: "mutations in KRAS codon 61, KRAS codon 146, BRAF, NRAS, or PIK3CA detected in Asian patients were not predictive of clinical benefits from cetuximab treatment." - pmids: - - "24006859" - - text: "When genotypes of BRAF/KRAS mutated s-BOTs and corresponding implants were compared, no patient presented with a fully matching mutation profile of s-BOT and all corresponding implants." - pmids: - - "24139521" - - text: This analysis suggests that differences in disease course of PTC in children versus adults are not strongly dependent upon the presence of the BRAF(V600E) mutation. - pmids: - - "24677749" - - text: Melanomas arising in SSD skin have higher mutation loads and contain a spectrum of molecular subtypes compared with BRAF- and NRAS-mutant tumors indicating multigene screening approaches - pmids: - - "23833303" - - text: "Although no melanomas had high-level amplification of BRAF, the two patients with progressive disease as their best response had BRAF copy gain in their tumors" - pmids: - - "23833299" - - text: "the homebrew dispensation sequence unambiguously identifies all known BRAF mutations in this region, whereas the kit-based dispensation sequence has one unresolvable degeneracy that could be solved with the addition of two injections" - pmids: - - "24713734" - - text: Two V600E-negative hairy-cell leukemias had new pote mutations in exon 11 (F468C and D449E). Another HCL was BRAF wild-type in exons 2-17. All non-HCL lymphomas lacked BRAF mutations. - pmids: - - "24433452" - - text: BRAF mutations are associated with lung cancer. - pmids: - - "23817662" - - text: "decreasing the levels of CTR1 (Cu transporter 1), or mutations in MEK1 that disrupt Cu binding, decreased BRAF(V600E)-driven signalling and tumorigenesis in mice and human cell settings" - pmids: - - "24717435" - - text: discordant BRAF mutation status is rare when samples from individual PTCs are compared or when samples from individual PTCs and lymph node metastasis at thyroidectomy are compared but occurs more when primary and recurrent metastasis are compared - pmids: - - "24746198" - - text: Response to vemurafenib suggests that BRAFV600 is an oncogenic driver in pediatric gliomas. - pmids: - - "24375920" - - text: BRAF mutation is associated with the serrated morphology of traditional serrated adenoma - pmids: - - "23960272" - - text: Suggest that some patients with advanced melanoma who are BRAF-mutation positive may benefit from ipilimumab as the first part of their sequential treatment schedule. - pmids: - - "24484235" - - text: "associations were identified between miR-31, BRAF and prognosis in CRC" - pmids: - - "24242331" - - text: BRAF-V600E expression in tissue dendritic cells did not define specific clinical risk groups but was associated with increased risk of recurrence. - pmids: - - "24638167" - - text: "Most of the Korean patients with multifocal papillary thyroid carcinoma (PTC) had the BRAF(V600E) mutation in one or more tumor foci, and all BRAF(V600E)-positive multifocal PTC showed more aggressive features." - pmids: - - "24612623" - - text: "For the 598 (91%) patients with BRAF(V600E) disease, median overall survival in the vemurafenib group was 13.3 months (95% CI 11.9-14.9) compared with 10.0 months (8.0-14.0) in the dacarbazine group (HR 0.75 [95% CI 0.60-0.93]; p=0.0085)" - pmids: - - "24508103" - - text: We evaluated the BRAF V600E expression by immunohistochemistry in pulmonary and extrapulmonary Langerhans cell histiocytosis cases - pmids: - - "24625419" - - text: "Results sugggest that Cdx2 may play a role in the serrated pathway to colorectal cancer with BRAF(V600E), CpG Island Methylator Phenotype (CIMP)-high and mismatch repair (MMR)-deficiency." - pmids: - - "24166180" - - text: "Suppression of TORC1 activity in response to RAF or MEK inhibitors, as measured by decreased phosphorylation of ribosomal protein S6 (P-S6), effectively predicted induction of cell death by the inhibitor in BRAF-mutant melanoma cell lines." - pmids: - - "23903755" - - text: "BRAF, NRAS, and c-Kit molecular analyses among patients affected by nail apparatus melanoma were investigated." - pmids: - - "23782496" - - text: "These cases further expand the range of glial neoplasia in which epithelioid morphology is encountered, and add to the growing list of biphasic tumors harboring the BRAF V600E mutation" - pmids: - - "24321241" - - text: an unexpectedly higher frequency of BRAF mutations was observed in mucosal melanomas in Southern Italy. - pmids: - - "23817129" - - text: Report clinical consequences of high frequency of BRAF mutations in ameloblastoma. - pmids: - - "24374844" - - text: Significant difference in Progression-free survival (PFS) and overall survival (OS)between patients with BRAF mutated and BRAF wild-type tumours was not detected - pmids: - - "23996432" - - text: The Mcl-1 promoter is dependent on a STAT consensus-site for B-RAF-mediated activation. - pmids: - - "23455323" - - text: evaluated the survival impact of MET expression in patients with BRAF(V600E/K) advanced melanoma treated with vemurafenib - pmids: - - "23802768" - - text: "BRAF mutation in the elderly is also exclusive of papillary carcinoma and is often significant. Furthermore, it is related to the classic variant and possibly to thyroid extravasation" - pmids: - - "23752636" - - text: "Nonsmall cell lung cancer cells with BRAF-V600E, but not other BRAF mutations, initially are sensitive to BRAF-inhibitor treatment, but rapidly acquire resistance to BRAF inhibition." - pmids: - - "24550319" - - text: Human neural crest progenitor cells are susceptible to BRAF(V600E)-induced transformation. - pmids: - - "23334329" - - text: "BRAF inhibition causes decreased CXCL8 secretion from melanoma cells and induce an immune response against the tumor associated with increased IFN-gamma, CCL4, and TNF-alpha." - pmids: - - "24489105" - - text: "The frequencies of EGFR, KRAS, BRAF, and HER-2 mutations in BM-NSCLC were 2.6, 38.5, 0, and 0% respectively." - pmids: - - "23930206" - - text: "Provided there is adequate quantity of viable tumor cells, immunohistochemical testing any melanoma sample from a patient with metastatic disease will accurately determine BRAF status." - pmids: - - "24335665" - - text: "we sought to analyze the nature of IC and EC response and progression in patients with melanoma brain metastases treated with dabrafenib, and hypothesized that metastases respond and progress similarly to BRAF inhibitors." - pmids: - - "24496868" - - text: TIMP-1 protein expression is a reliable surrogate marker for BRAF(V600E)-mutated status in papillary thyroid carcinoma - pmids: - - "23893334" - - text: "BRAF (V600E) is non-associated with Gal-3 expression, whereas it is associated with cytoplasmatic localization of p27kip1 and higher CK19 expression in papillary thyroid carcinoma." - pmids: - - "23203004" - - text: no association with BRAF-V600E mutation in gastroeosophageal tumors - pmids: - - "23343956" - - text: We found BRAF mutations in 13/61 of the melanoma lesions and V600K predominated over V600E. - pmids: - - "24026210" - - text: Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas. - pmids: - - "24413733" - - text: BRAF mutations are associated with colorectal neoplasms. - pmids: - - "23773459" - - text: This study demonistrated that Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression. - pmids: - - "23442159" - - text: BRAF mutation is associated with poor response to anti-EGFR MoAbs and it is an adverse prognostic biomarker of the survival of patients with metastatic colorectal cancer. - pmids: - - "23615046" - - text: BRAF protein mutation can be reliably detected in patients diagnosed with papillary thyroid carcinoma. - pmids: - - "24039206" - - text: "Although moderate or strong cytoplasmic staining is specific for BRAF V600E mutations in colorectal adenocarcinoma, the VE1 monoclonal antibody is insufficiently sensitive to serve as an effective screening tool." - pmids: - - "23763264" - - text: "the role of BRAF mutations in melanoma and colorectal cancer, focusing on similarities and differences of BRAF mutations (Review)" - pmids: - - "23246082" - - text: Findings support the development of CDK and Raf co-targeting strategies in EGFR/HER-2-overexpressing or RAS/RAF mutant breast cancer (BC). - pmids: - - "23908594" - - text: Data indicate that the median time to progression (TTP) 8.9 months is close to the promising BRAF- and MEKi combination therapy with median progression-free survival (PFS) 9.4 months. - pmids: - - "24183461" - - text: We found that inherited variants of CDKN2A have no effect on the prevalence of BRAF/NRAS mutations in melanoma. - pmids: - - "23771122" - - text: "study characterized the multiple-dose pharmacokinetics of vemurafenib 240-960 mg twice daily (bid) in BRAF(V600E) mutation-positive metastatic melanoma patients, using the commercial formulation" - pmids: - - "24178368" - - text: "As heterogeneity with respect to BRAF mutation status is detected in melanoma patients, subsequent testing of initially wild-type patients can yield different results and thus make BRAF inhibitor therapy accessible." - pmids: - - "24196789" - - text: The presence of NRAS or BRAF mutations in a mutually exclusive pattern in roughly half (47%) of conjunctival melanomas and the pattern of CNAs argue for conjunctival melanoma being closely related to cutaneous and mucosal melanoma - pmids: - - "23633454" - - text: the presence of a BRAF- or NRAS mutation in a nevus was not associated with the risk of malignant transformation. - pmids: - - "23861977" - - text: Our studies have identified a previously unrecognized regulatory role of Lys63-linked polyubiquitination in BRAF-mediated normal and oncogenic signalings. - pmids: - - "23907581" - - text: Molecular analysis of the BRAF T1799A mutation in fine needle aspiration biopsy specimens has high specificity and positive predictive value for papillary thyroid carcinoma - pmids: - - "23534744" - - text: the clinical pathological relevance of BRAF mutation in cancer (Review) - pmids: - - "23594689" - - text: "EGF, which signals through CRAF, and an activated BRAF mutant also activate PKC and stimulate cell migration through up-regulating RFFL expression." - pmids: - - "24114843" - - text: study suggests that highly aggressive papillary thyroid microcarcinoma may arise in a subset of patients with BRAF(V600E) mutation and tumors greater than 5 mm; multivariate analysis showed that tumor recurrence was not associated with BRAF(V600E)mutation - pmids: - - "23370668" - - text: B-Raf mutations are associated with cancer. - pmids: - - "24161954" - - text: analysis suggests that BRAF mutations occur at a low frequency in chronic lymphocytic leukemia - pmids: - - "23088640" - - text: "There was no significant association between BRAF positivity and tumor multicentricity, lymphovascular invasion, extranodal extension, central neck involvement, advanced stage (stage III or IV), and distant metastasis." - pmids: - - "24030686" - - text: "Of 54 intrahepatic cholangiocarcinoma cases, 7.4% were mutant for KRAS, 7.4% were mutant for BRAF, and these were mutually exclusive. These cases were associated with a higher tumor stage and a greater likelihood of lymph node involvement." - pmids: - - "24139215" - - text: used a mutation-specific antibody for immunohistochemical detection of the BRAF V600E mutation and correlated expression with clinicopathologic features in papillary thyroid carcinoma - pmids: - - "23931769" - - text: hypothesize that the level of SPRY2 expression contributes to MAPK/ERK pathway output and accounts for BRAF V600E+ and clinical heterogeneity in papillary thyroid cancer - pmids: - - "24094449" - - text: Data indicate that phosphorylation of BRAF by AMPK disrupts its association with KSR1. - pmids: - - "24095280" - - text: BRAF alterations are associated with pediatric low grade gliomas and mixed neuronal-glial tumors. - pmids: - - "23612919" - - text: "The results indicate that BRAF mutant is a predictive biomarker for poor prognosis in mCRC patients undergoing anti-EGFR MoAbs therapy, especially in KRAS WT patients" - pmids: - - "23776587" - - text: low BRAF as well as NRAS expression levels were associated with a longer progression-free survival in the total population - pmids: - - "23673558" - - text: The low incidence of BRAF mutation limited assessment of its prognostic impact. - pmids: - - "24104864" - - text: the association between BRAF V600E mutation and aggressive features of papillary thyroid cancer - pmids: - - "23969188" - - text: "consistent with previous studies, it was concluded that the incidence of BRAF V600E mutation in adult acute lymphoblastic leukemia, if any, is extremely infrequent" - pmids: - - "23009221" - - text: detection of BRAF V600E in colorectal cancer specimens by immunohistochemistry is sensitive and specific and may help to identify Lynch syndrome patients - pmids: - - "23963522" - - text: the BRAF V600E mutation is not pathobiologically relevant in primary central nervous system lymphoma - pmids: - - "23235345" - - text: "A combination of solid nodules, nodules with irregular contours, symptomatic nodules, and positive BRAF mutation has high predictive value for malignancy in patients with thyroid follicular lesion of undetermined signifi-cance." - pmids: - - "23595630" - - text: This study demonstrated that either BRAF or RAS mutations were present in two thirds of follicular variants of papillary thyroid carcinomas and these mutations were mutually exclusive. - pmids: - - "23625203" - - text: "These findings demonstrate the presence of mutation-specific clinical differences between different BRAF genotypes in patients with melanoma, and support the incorporation of this information in patient evaluation and clinical trial design." - pmids: - - "23922205" - - text: "In human BRAF papillary thyroid carcinomas, ERK kinase phosphorylation is decreased compared to normal thyroid glands." - pmids: - - "23544999" - - text: Data indicate that concurrent BRAF and PI3K/mTOR blockade results in induction of apoptosis. - pmids: - - "23549875" - - text: BRAFV600E mutation is not associated with papillary thyroid carcinoma. - pmids: - - "23687957" - - text: An analysis of BRAF mutations in fast-growing melanomas. - pmids: - - "23448684" - - text: "Data indicate that besides confirming the constant presence of BRAF-V600E in all patients with hairy cell leukemia, phospho-ERK1/ERK2 expression was observed." - pmids: - - "23349307" - - text: "In this manuscript, we provide an overview of the emerging scientific literature on dermatological adverse events arising out of BRAF inhibition." - pmids: - - "23463215" - - text: HSP60 protein expression may inhibit lymph node metastasis in papillary thyroid carcinomas harboring the BRAF mutation. - pmids: - - "24123003" - - text: "Data indicate that of the 32 cardio-facio-cutaneous syndrome (CFC) patients, 28 (88%) had a known mutation in a gene that is causative for CFC, including BRAF (n = 21), MEK1 (n = 2), MEK2 (n = 4), and KRAS (n = 1)." - pmids: - - "22946697" - - text: A BRAF mutation-specific (V600E) antibody detected tumors with BRAFV600E mutations and exhibited complete concordance with a DNA-based method. - pmids: - - "23657789" - - text: BRAF mutations were detected in 2 amelanotic acral melanoma cases - pmids: - - "23972510" - - text: The status of BRAF(V600E) mutation was more frequent in multifocal PTC patients with lymph node metastasis and diagnosis at later age. - pmids: - - "23253715" - - text: "BRAF V600E mutation was detected in 41/71 (58 %) gangliogliomas by immunohistochemistry, DNA sequencing was concordant in 60 of 62 analyzed cases, and BRAF V600E-mutated protein was localized predominantly to the neuronal compartment." - pmids: - - "23435618" - - text: "Findings show that KIT and BRAF mutations are only rarely present in SNMMs, whereas NRAS mutations seem to be relatively more frequent." - pmids: - - "23860532" - - text: Ras-mutant cancer cells display B-Raf binding to Ras that activates extracellular signal-regulated kinase and is inhibited by protein kinase A phosphorylation - pmids: - - "23893412" - - text: BRAF mutations are found in 2 to 4% of non-small cell lung cancers. The mutations harbor non-V600E mutations in 40 to 50% of cases. A phase 2 trial of dabrafenib described 8 responses of 20 patients with BRAF V600E mutant NSCLC - pmids: - - "23841470" - - text: Mortalin mediates a switch in tumor-suppressive signaling of Raf/MEK/extracellular signal-regulated kinase. - pmids: - - "23959801" - - text: "Sinonasal intestinal-type adenocarcinomas share common alterations of the EGFR pathway with colorectal adenocarcinomas, except for a lower frequency of KRAS and BRAF mutations." - pmids: - - "23791006" - - text: results suggest that mutant B-RAF signaling downregulates Tiam1/Rac activity resulting in an increase in N-cadherin levels and a decrease in E-cadherin levels and ultimately enhanced invasion - pmids: - - "23208503" - - text: "Data indicate that tumor regression was seen in three of five patients with BRAF-mutated, low pAKT melanomas." - pmids: - - "23444215" - - text: Co-amplification of these candidate genes or the CCND1 amplification along with either BRAF or NRAS mutations might be more important for prognosis than the presence of these alterations alone. - pmids: - - "23795354" - - text: demonstrating that the BRAF(T1799A) mutation is a clonal event in thyroid cancer - pmids: - - "23775351" - - text: We show that (V600E)BRAF upholds the activity of glycolysis and therefore the addiction to glycolysis de facto becomes an addiction to (V600E)BRAF. - pmids: - - "23603840" - - text: "Case Report: BRAF mutation documented in folliculotropic metastatic melanoma." - pmids: - - "23715079" - - text: Detection of the BRAF V600E mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods - pmids: - - "23650027" - - text: High BRAF is associated with metastatic melanoma. - pmids: - - "23307859" - - text: This study demonstrated the absence of consistent recurrent chromosomal alterations in desmoplastic infantile astrocytomas and desmoplastic infantile gangliogliomas and overall rarity of the BRAF mutation in these tumors. - pmids: - - "23965740" - - text: Increased BRAF mutation with age along with the lack of a UVR magnitude-BRAF mutation association suggests that duration of exposure rather than UVR exposure dose is the more likely link to acquiring mutations in melanocytic nevi. - pmids: - - "23051629" - - text: BRAF mutations are associated with papillary thyroid carcinoma. - pmids: - - "23725167" - - text: No evidence existed for a differential prognostic role of BRAF mutation by MSI status (P(interaction) > .50). Combined BRAF/MSI status in colorectal cancer is a tumor molecular biomarker for prognosic risk stratification. - pmids: - - "23878352" - - text: The BRAF gene polymorphism (rs10487888) may not be a genetic determinant for increasing the risk of chronic periodontitis among the Iranian population - pmids: - - "23412871" - - text: The overall BRAF V600E mutation rate was 70.4% and 100% in tall cell variant. - pmids: - - "23580256" - - text: and SSCA followed by Sanger sequencing are effective two-step strategies for the detection of BRAF mutations in the clinical setting. - pmids: - - "23584600" - - text: "Studied the cytotoxicity and anti-tumour activity of novel MEK inhibitor, E6201, in a panel of melanoma cell lines. Most melanoma cell lines were sensitive or hypersensitive to E6201; the sensitivity correlated with wildtype PTEN and mutant BRAF status." - pmids: - - "23039341" - - text: "About one fourth of mCRC cases wild-type for KRAS codons 12 and 13 present other mutations either in KRAS, BRAF, or PIK3CA, many of which may explain the lack of response to anti-EGFR therapy observed in a significant proportion of these patients." - pmids: - - "23548132" - - text: prevalence of the BRAF(V600E) mutation increased with increased tumor size - pmids: - - "22488961" - - text: A BRAF mutation was only detected in a single Japanese gastric cancer. - pmids: - - "23511561" - - text: report that Mps1/AKT and B-Raf(WT)/ERK signaling form an auto-regulatory negative feedback loop in melanoma cells - pmids: - - "23726842" - - text: "demonstrate dose-dependent effects of oncogenic signaling, with physiologic Braf(V600E) expression being sufficient for hyperplasia induction" - pmids: - - "23845441" - - text: BRAF mutations were associated with reduced overall survival among patients with cololectal cancer without KRAS mutations in exon 2 and among those with NRAS mutations in exon 3. - pmids: - - "24024839" - - text: "Selumetinib plus dacarbazine showed clinical activity in patients with BRAF-mutant cutaneous or unknown primary melanoma, reflected by a significant benefit in progression-free survival." - pmids: - - "23735514" - - text: Preoperative mutation screening for BRAF(V600E) does not meaningfully improve risk stratification and is unlikely to alter the initial management of patients with indeterminate nodules. - pmids: - - "23280049" - - text: "follow-up BRAFV600E mutation analysis may be helpful in the diagnosis of selected thyroid nodules negative for BRAFV600E mutation on initial analysis, which are assessed as suspicious malignant on ultrasonography." - pmids: - - "23505540" - - text: The findings support the hypothesis that BRAF-mutated cells may show resistance to the anticancer effects of aspirin in patients with colorectal cancer. - pmids: - - "23800934" - - text: "One hundred and ten patients (51%) were identified who were potentially nonresponders to anti-EGFR therapy: 13/117 (11.1%) had the V600E BRAF mutation." - pmids: - - "23125007" - - text: "ARAF seems to stabilize BRAF:CRAF complexes in cells treated with RAF inhibitors and thereby regulate cell signaling in a subtle manner to ensure signaling efficiency" - pmids: - - "22926515" - - text: Findings support the potential use of immunohistochemistry as an ancillary screening tool to assess the BRAFV600E mutation status in primary cutaneous melanoma. - pmids: - - "23041829" - - text: "We found BRAF(V600E) mutations in the melanocytic nevi to be fully clonal, strongly suggesting that BRAF-activating mutations typically are early initiating events in melanocytic neoplasia." - pmids: - - "23690527" - - text: Results demonstrated the action of Dabrafenib and the inhibition of MAPK pathway in melanoma cell lines carrying BRAFV600D/R mutations; these results could be helpful to enlarge the number of patients who may benefit of a more effective targeted treatment - pmids: - - "23317446" - - text: BRAF and codon 12 KRAS mutations predict for adverse outcome of colorectal cancer patients receiving cetuximab. - pmids: - - "23374602" - - text: Data indicate that BRAF and EGF receptor or SRC family kinase inhibition blocked proliferation and invasion of the resistant tumors. - pmids: - - "23242808" - - text: BRAF mutations enhance the predictability of malignancy in thyroid follicular lesions of undetermined significance. - pmids: - - "22156468" - - text: The BRAF V600E mutation is associated with a higher pathological stage at surgery and a higher rate of recurrence. - pmids: - - "22156467" - - text: RSK regulates activated BRAF signalling to mTORC1 and promotes melanoma growth - pmids: - - "22797077" - - text: BRAF (V600E) mutation is associated with papillary thyroid microcarcinoma. - pmids: - - "23192956" - - text: "AURKB and WEE1 are targets and biomarkers of therapeutic efficacy, lying downstream of (V600E)B-RAF in melanomas." - pmids: - - "23416158" - - text: Aim of this work is to provide a detailed comparison of clinical-pathologic features between well-differentiated and poorly differentiated tumors according to their BRAF and RASSF1A status. - pmids: - - "23192464" - - text: Pulmonary Langerhans cell histiocytosis appears to be a clonal proliferation that may or may not have BRAF V600E mutations. - pmids: - - "23287985" - - text: BRAF mutation is suggested to be poor prognostic factors in CRLM. - pmids: - - "23010994" - - text: BRAF (V600E) mutation is associated with papillary thyroid carcinomas. - pmids: - - "23179992" - - text: No BRAF V600E mutations were detected in nonserous epithelial ovarian tumors. - pmids: - - "22820660" - - text: BRAF mutations is associated with colorectal cancer. - pmids: - - "23324583" - - text: "This is the first report of BRAF V600E mutation in endometrial cancer, indicating that it may contribute to tumorigenesis of endometrial cancer, although at a low frequency compared with KRAS mutations." - pmids: - - "23370429" - - text: "This report is the first to identify the rare, variant BRAF V600D mutation in LCH, and provides support for constitutively activated BRAF oncogene-induced cell senescence as a mechanism of regression in congenital, benign LCH." - pmids: - - "22996177" - - text: "BRAF(V600E) mutation is an early event in thyroid carcinogenesis, and is associated with distinctive morphology and aggressive features even in papillary thyroid microcarcinomas" - pmids: - - "22918165" - - text: BRAF mutation shows clinical significance in the prognosis of thyroid papillary cancer. - pmids: - - "23482475" - - text: Establishment of molecular subgroups based on KRAS and BRAF mutation status is important and should be considered in future prognostic studies in colorectal carcinoma. - pmids: - - "23660947" - - text: "Accurate diagnosis of rare BRAF mutations is crucial. Pyrosequencing is accurate, highly sensitive, reliable, and time saving to detect rare BRAF mutations." - pmids: - - "23579220" - - text: "The present study revealed that ESCC of Brazilian patients do not present mutations in hot spots of EGFR, K-RAS and BRAF and only a minor proportion present overexpression of EGFR or HER2." - pmids: - - "23207070" - - text: Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to neurofibromatosis - pmids: - - "23190154" - - text: BRAF(V600E) increases migration and invasion of thyroid cancer cells via upregulation of Snail with a concomitant decrease of its target E-cadherin. - pmids: - - "23435375" - - text: "we deduce that in the absence of mutation activation, B-Raf overexpression or downregulation is a protective event, since it delays the development of both malignant and benign thyroid tumors." - pmids: - - "23263826" - - text: The detected Merkel cell polyomavirus prevalence in non-small cell lung cancer in combination with the deregulated expression of BRAF and Bcl-2 genes suggests that these events are likely to contribute to the pathogenesis of non-small cell lung cancer. - pmids: - - "23355004" - - text: "Alternative splicing of exons 14, 15, 15b, 16b and 16c occurs in a considerable fraction of BRAF mRNA in normal colon and colorectal cancer cells and is independent of the V600E mutational status of the parental allele." - pmids: - - "23354951" - - text: Braf mutations were not associated with the risk of lymph node metastasis in papillary thyroid carcinoma. - pmids: - - "23636013" - - text: The BRAF V600E mutation is the only independent predictor of compartment lymph node metastasis in papillary thyroid carcinoma. - pmids: - - "22941165" - - text: study identified two miRNAs (miR-21* and miR-203 that are differentially expressed in papillary thyroid carcinoma tissues with BRAF(V600E) and revealed their associations with clinicopathological features - pmids: - - "23416953" - - text: A systematic review and meta-analysis revealed that BRAF mutation is an absolute risk factor for patient survival in colorectal cancer and melanoma. - pmids: - - "23056577" - - text: Aberrant BRAF splice variants with deletions in both kinase and RAS-binding domains in rheumatoid arthritis patients demonstrate that these BRAF splice variants constitutively activate MAPK through CRAF - pmids: - - "23517740" - - text: "in cells expressing KIAA1549-BRAF, the fusion kinase functions as a homodimer that is resistant to PLX4720 and accordingly is associated with CRAF-independent paradoxical activation of MAPK signaling" - pmids: - - "23533272" - - text: "genetic association studies in population in Italy: Data suggest that V600E mutation in BRAF in subjects with papillary thyroid carcinomas with/without lymph node metastases is not associated with disease progression." - pmids: - - "23533235" - - text: "BRAF V600E mutation may identify a subset of grade 2 diffuse gliomas that have a distinct phenotype, incl. supratentorial location, chronic seizure disorder, and atypical radiographic and histologic features." - pmids: - - "23547069" - - text: BRAFV600E mutation is associated with cervical lymph node metastasis and recurrence in papillary thyroid cancer. - pmids: - - "23132792" - - text: Antitumor effects of vemurafenib are mediated by inhibiting oncogenic MAPK signaling in BRAF(V600)-mutant metastatic melanoma. Data suggest that inhibition downstream of BRAF should help to overcome acquired resistance. - pmids: - - "23569304" - - text: No point mutations were identified in BRAF codon Val600Glu in the studied colorectal adenocarcinomas in the Turkish population. - pmids: - - "23297805" - - text: K-RAS and B-RAF mutations do not seem to be predictive of treatment outcome as potential biomarkers for bevacizumab therapy in metastatic colorectal cancer. - pmids: - - "23613396" - - text: Report BRAF mutations in ovarian serous carcinoma. - pmids: - - "23388101" - - text: "found a significantly increased risk of papillary thyroid carcinoma attributed to the SNP variants rs17161747, rs1042179, and rs3748093 for those with a family history of cancer, for smokers, and for both those of age <45 years and nondrinkers" - pmids: - - "22973979" - - text: Results document the expression of RAC1b in normal thyroid cells as well as overexpression in a subset of PTCs. They suggest a possible interplay between BRAF V600E and RAC1b contributing to poor clinical outcome. - pmids: - - "23482591" - - text: B-Raf/MKK/ERK controls key aspects of cancer cell behavior and gene expression by modulating a network of miRNAs with cross-regulatory functions. - pmids: - - "22751131" - - text: "KRAS and BRAF mutations are infrequent or absent, respectively in Intestinal-type sinonasal adenocarcinoma" - pmids: - - "23055340" - - text: "The novel melanoma cell lines were compared to metastatic cell lines (HBL, LND1), wild type (wt) for MC1R and BRAF genes." - pmids: - - "23489693" - - text: BRAF V600E mutation testing modifies sensitivity or specificity of the Afirma Gene Expression Classifier in cytologically indeterminate thyroid nodules. - pmids: - - "23476074" - - text: V600R mutation and double (V600E -V600M) mutation were identified in two melanomas - pmids: - - "23463675" - - text: Our findings confirm that BRAF mutations originate in the serrated epithelium of colonic perineuriomas with crypt serration - pmids: - - "23588369" - - text: V600E point mutation was identified in the BRAF gene in 3 intramucosal nevi and in 2 melanomas. Only 1 blue nevus harbored the GNAQ209 mutation - pmids: - - "23159116" - - text: A K601E BRAF mutation is associated with papillary thyroid carcinoma. - pmids: - - "22887810" - - text: A high percentage of epithelioid giant cell glioblastoma multiformemanifest BRAF V600E mutation - pmids: - - "23552385" - - text: "Studies indicate that BRAF mutations are identified in 40-50% of patients with melanoma, and treatment with either of two BRAF inhibitors (vemurafenib, dabrafenib) or the MEK inhibitor trametinib is associated with improved clinical benefit." - pmids: - - "23290787" - - text: BRAF mutation is associated with pleomorphic xanthoastrocytomas with anaplastic features. - pmids: - - "23096133" - - text: melanomas with activation of the BRAF/MAPK pathway have suppressed levels of MITF and PGC1alpha and decreased oxidative metabolism - pmids: - - "23477830" - - text: "Desmoplastic malignant melanoma: a study of ten cases and status of BRAF mutation." - pmids: - - "23095503" - - text: "Studies identified 21 deleterious mutations MLH1, MSH2, MSH6 and BRAF." - pmids: - - "23401454" - - text: MITF-BCL2A1 as a lineage-specific oncogenic pathway in melanoma and underscore its role for improved response to BRAF-directed therapy. - pmids: - - "23447565" - - text: "In CRC patients treated with cetuximab, activating mutation signatures for BRAF (58 genes) were developed." - pmids: - - "22798500" - - text: "The role of BRAF V600E as targetable driver mutation in lung adenocarcinoma is strengthened by finding that in vivo expression of V600E in mice leads to development of invasive adenocarcinoma, a phenotype that is reversed when V600E expression is stopped." - pmids: - - "23401445" - - text: BRAF (V600) mutations are are associated with melanomas. - pmids: - - "22772867" - - text: We found that NRAS-mutant melanomas were significantly more likely from older patients and BRAF-mutant melanomas were more frequent in melanomas from the trunk. - pmids: - - "23096702" - - text: Histopathologic changes suggesting prolapsed rectal mucosa should take precedence over BRAF results in diagnosing sessile serrated adenomas in the rectum. - pmids: - - "23069257" - - text: "Codon 12, 13 in KRAS gene and codon 600 in BRAF gene are the most common mutation points in Chinese colorectal cancer. KRAS and BRAF mutations are mutually exclusive. KRAS and BRAF gene mutation is higher in females than that in males." - pmids: - - "23157824" - - text: "In Chinese colorectal carcinoma patients, BRAF mutation is associated with tumor differentiation and primary tumor sites." - pmids: - - "23157823" - - text: "Mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not associated with sporadic vestibular schwannomas." - pmids: - - "23224067" - - text: "This study reveals a novel mechanism of immune suppression sensitive to BRAF(V600E) inhibition, and indicates that clinical blockade of IL-1 may benefit patients" - pmids: - - "22850568" - - text: Patients with V600R BRAF mutations can be treated successfully with oral BRAF inhibitors. - pmids: - - "23237741" - - text: Higher response rates and longer time to progression were observed with selumetinib-containing regimens in patients who had melanoma that harbored a BRAF mutation. - pmids: - - "22972589" - - text: "Our results suggest that in a small fraction of diffuse gliomas, KIAA1549-BRAF fusion gene and BRAF(v600E) mutation may be responsible for deregulation of the Ras-RAF-ERK signaling pathway" - pmids: - - "22591444" - - text: These results suggest that low-grade diffuse gliomas with 1p/19q loss have frequent BRAF gains - pmids: - - "22568401" - - text: A review summarizes the role of the BRAF V600E mutation in the development and progression of thyroid cancer. - pmids: - - "22858857" - - text: we found no cases of Rosette-forming glioneuronal tumors of the fourth ventricle showing KIAA1549-BRAF gene fusion or BRAF (V600E) mutation - pmids: - - "22814862" - - text: "study concludes that generally, overweight increases the risk of colorectal cancer; taller individuals have an increased risk of developing a tumour with a BRAF mutation or microsatellite instability" - pmids: - - "22531127" - - text: Ras pathway activation via EGF treatment induced strong binding between B-Raf and C-Raf and a low level of binding between B-Raf and A-Raf. - pmids: - - "23352452" - - text: expression of these oncogenes markedly stimulated ERK1/2 activities and morphologically transformed IECs. Importantly however - pmids: - - "22430215" - - text: "Study demonstrates that chromosomal instability commonly occurs in advanced BRAF mutant/MSS colorectal cancers where it may contribute to poorer survival, and further highlights molecular similarities occurring between these and BRAF wild type cancers." - pmids: - - "23110075" - - text: Data suggest that the BRAF V600E mutation does not seem to play a role in myeloid malignant transformation. - pmids: - - "22339435" - - text: Clinical characteristics of colorectal cancer with the V600E BRAF mutation. - pmids: - - "23138171" - - text: "Data suggest that BRAF V600E mutation may not be widespread in hematologic malignancies, excluding hairy-cell leukemia (HCL)." - pmids: - - "22639828" - - text: "In this retrospective multicenter study, the presence of the BRAF V600E mutation was significantly associated with increased cancer-related mortality among patients with papillary thyroid carcinom" - pmids: - - "23571588" - - text: "We propose that , and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis." - pmids: - - "22430208" - - text: "Studied differential miRNA expression in metastatic colorectal cancer by microarrays from primary tumors of 33 patients who had wild-type KRAS/BRAF and third- to sixth-line anti-EGFRmAb treatment, with/without irinotecan." - pmids: - - "23098991" - - text: "genetic association studies in population in Turkey: Data suggest that a mutation in BRAF (V600E; found in 39.45% of patients) is associated with aggressiveness of papillary thyroid neoplasms; lymph node metastasis increases when mutation is present." - pmids: - - "22426956" - - text: Kidins220 is a novel T-cell receptor (TCR)-interacting protein that couples B-Raf to the TCR. Kidins220 is mandatory for sustained Erk signaling and is crucial for TCR-mediated T cell activation. - pmids: - - "23359496" - - text: "B-RAF upregulates SGLT1 activity, an effect requiring vesicle insertion into the cell membrane." - pmids: - - "23010278" - - text: Investigated BRAF and RAF1 alterations in Chinese prostate cancer.Found BRAF truncated in five of 200 informative Chinese cases & RAF1 was truncated in three of 204 informative cases and genomic rearrangements were correlated w/high Gleason scores. - pmids: - - "22833462" - - text: "MSI status, KRAS and BRAF mutation rates varied remarkably among the colonic carcinoma subsites irrespective of right- and left-sided origin." - pmids: - - "22898351" - - text: BRAF mutation is associated with early stage disease and improved outcome in patients with low-grade serous ovarian cancer. - pmids: - - "22930283" - - text: "These findings indicate that ABCG2 confers resistance to vemurafenib in A375 cells, suggesting involvement of this transporter in acquired resistance to vemurafenib." - pmids: - - "23153455" - - text: Braf mutation status is not significantly associated with poor survival for melanoma in Koreans. - pmids: - - "23014346" - - text: "In papillary thyroid carcinoma BRAFV600E is associated with increased expression of the urokinase plasminogen activator and its cognate receptor, but not with disease-free interval." - pmids: - - "22702340" - - text: The presence of BRAF mutations in these adenomatous precursors to colon cancer suggests that they represent sessile serrated adenomas with complete cytologic dysplasia. - pmids: - - "22684223" - - text: Preoperative BRAF mutation was a predictive factor for occult contralateral papillary thyroid microcarcinoma presence. - pmids: - - "22799316" - - text: "We conclude that the presence of BRAF mutation, NRAS mutation, and the absence of an immune-related expressed gene profile predict poor outcome in melanoma patients with macroscopic stage III disease." - pmids: - - "22931913" - - text: "BRAF V600E mutations are present in approximately 90% of all kidney metanephric adenoma cases, serving as a potential valuable diagnostic tool in the differential diagnosis." - pmids: - - "22727996" - - text: "Mutation BRAF transforms cells through cross talk with developmental pathways Hedgehog and Wnt, as well as by deregulation of colorectal cancer related kinase pathways." - pmids: - - "22515520" - - text: "Data indicate that mutation frequency in malanoma patients was found witih BRAF(V600) in 51%, NRAS in 19%, PI3K pathway in 41% and PTEN in 22%." - pmids: - - "22912864" - - text: Hairy cell leukemia cell lines expressing annexin A1 and displaying B-cell receptor signals characteristic of primary tumor cells lack the signature BRAF mutation to reveal unrepresentative origins. - pmids: - - "22705994" - - text: "data confirm that among lymphoproliferative disorders, BRAF V600E mutation is restricted to hairy cell leukemia (HCL); no mutations were identified in variant HCL, NMZL, ENMZL, PTLD, PTCL, ALCL, or LGL proliferations" - pmids: - - "23161722" - - text: "Data indicate that the presence of the BRAF V600E mutation was more frequent in women, but this gender difference was not statistically significant." - pmids: - - "23157614" - - text: High-throughput genotyping in metastatic esophageal squamous cell carcinoma identifies phosphoinositide-3-kinase and BRAF mutations. - pmids: - - "22870241" - - text: these results link epigenetic genes to methylation and suppression of tumor suppressor genes as a mechanism involved in BRAFV600E-promoted melanoma tumorigenesis and uncover a novel molecular signature that predicts a poor prognosis of melanoma. - pmids: - - "22820187" - - text: "EGFR and downstream genetic alterations in KRAS/BRAF and PI3K/AKT pathways have roles in colorectal cancer and treatment [review]" - pmids: - - "23021375" - - text: Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. - pmids: - - "23026937" - - text: The BRAF(V600E) mutation was demonstrated to be a poor prognostic factor for the persistence of the disease independent from other clinical-pathological features in low-risk intrathyroid papillary thyroid carcinoma patients. - pmids: - - "23066120" - - text: "BRAF mutation was associated with lymph node metastases (LNM), advanced stage, extrathyroidal extension, tumor size, male gender, multifocality, absence of capsule, classic PTC, and tall-cell variant papillary thyroid cancer." - pmids: - - "23055546" - - text: BRAF V600E mutation is associated with response to vemurafenib in lung adenocarcinoma. - pmids: - - "22743296" - - text: BRAF V600E mutation in low and intermediate grade lymphomas is associated with frequent occurrence in hairy cell leukaemia. - pmids: - - "22246856" - - text: the impact of BRAF mutation and microsatellite instability on prognosis in metastatic colorectal cancer - pmids: - - "21456008" - - text: BRAF V600E mutation revealed a strong association with specific histological variants of papillary thyroid carcinoma. - pmids: - - "22732794" - - text: Data show clinical significance to BRAF(L597) mutations in melanoma. - pmids: - - "22798288" - - text: "study reports a novel complex BRAF mutation identified in 4/492 Japanese papillary thyroid carcinoma(PTC) cases; findings suggest the BRAF(V600delinsYM)mutation, is a gain-of-function mutation and plays an important role in PTC development" - pmids: - - "22752848" - - text: "B-Raf(insT) and B-Raf(V600E) , but not B-Raf(wt) , provoke drastic morphological alterations in human astrocytes." - pmids: - - "21190184" - - text: "In a cohort of Indian patients with ulcerative colitis, with or without neoplasia, none showed the BRAF mutation." - pmids: - - "22398042" - - text: "The combined effects of EGFR downregulation, ligand competition, and immune effector function conspire to inhibit tumor growth in xenograft models of cetuximab-resistant BRAF and KRAS mutant cancers." - pmids: - - "22706026" - - text: BRAFV600E mutation is associated with lymph node metastasis in multiple papillary thyroid carcinoma. - pmids: - - "22681706" - - text: Demonstrate that BRAF V600E mutation-specific antibody can be used in immunohistochemical diagnosis of hairy cell leukemia. - pmids: - - "22531170" - - text: BRAF mutational status is predictive of papillary thyroid carcinoma recurrence - pmids: - - "23158172" - - text: BRAF mutation was not found to be significantly associated with lymph node metastasis in patients with papillary thyroid cancer - pmids: - - "23062653" - - text: This study reveals a novel molecular mechanism underlying the regulation of feedback loops between the MAPK and AKT pathways. - pmids: - - "22880048" - - text: High prevalence of BRAF V600E mutations is associated with Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. - pmids: - - "22879539" - - text: study found a relatively higher B-Raf serine/threonine-protein kinase (BRAF)(V600E) mutation rate in classical type papillary thyroid carcinomas than in other similar studies - pmids: - - "22767446" - - text: "As has been reported in other common types of melanoma, V600 BRAF mutation is the most common mutation of those tested in spindle cell melanoma. NRAS or KIT mutation appears to be rare, if not completely absent." - pmids: - - "22809251" - - text: "The BRAFV600E occurs exclusively in papillary thyroid carcinoma and papillary carcinoma-derived anaplastic cancer, rising as a specific diagnostic marker for this tumor when identified in cytological / histological exams" - pmids: - - "22863493" - - text: BRAF mutations play a limited role in the development of sinonasal cancer. - pmids: - - "22459936" - - text: "Out of 1041 Korean patients with papillary thyroid carcinoma, 0.4% had rare types of BRAF mutation and three new somatic mutations were identified" - pmids: - - "22471241" - - text: "DNA methylation of each marker was quantified using combined bisulfite restriction analysis (COBRA) and analyzed along with various genetic factors associated with CRC [the BRAF and KRAS mutations, MLH1 methylation and microsatellite instability" - pmids: - - "22006538" - - text: BRAF and KIT mutations have been found in Japanese melanoma patients. - pmids: - - "22534474" - - text: The presence of a BRAF c.1799T>A (p.V600E) mutation is associated with significantly poorer prognosis after colorectal cancer diagnosis among subgroups of patients. - pmids: - - "22899730" - - text: BRAF mRNA expression may help to identify PTC among thyroid nodules independently of the presence of BRAFV600E mutation. - pmids: - - "22770943" - - text: "Vemurafenib is effective for advanced melanomas expressing the BRAF V600E mutations [review]" - pmids: - - "22742884" - - text: We describe 3 patients with BRAF V600E mutation metastatic melanoma in whom treatment with vemurafenib resulted in prompt extracranial disease response but progression of metastatic disease in the brain. - pmids: - - "23036672" - - text: The tumor with T1799A BRAF mutation and tumor sizes of 2 cm or more were clinicopathologic parameters associated with lower STAT1 activity. - pmids: - - "22514085" - - text: "study shows there are clinically and biologically distinct subtypes of BRAF-mutant metastatic melanoma, defined by genotype, with distinct etiology and behavior; cumulative sun-induced damage in primary cutaneous melanoma and older age are associated with V600K BRAF mutations;it establishes prevalence of the BRAF mutation by age-decade" - pmids: - - "22535154" - - text: BRAFV600E mutation is associated with Langerhans cell histiocytosis. - pmids: - - "22859608" - - text: No BRAF V600E mutations were indentified in this study of patients with endometrial cancer. - pmids: - - "22498935" - - text: "RAF1(D486N), as well as other kinase-impaired RAF1 mutants, showed increased heterodimerization with BRAF, which was necessary and sufficient to promote increased MEK/ERK activation." - pmids: - - "22826437" - - text: BRAF regulates expression of long noncoding RNAs in melanocytes and melanoma cells - pmids: - - "22581800" - - text: "we have analyzed the prevalence of somatic mutations in the FGFR3, PIK3CA, AKT1, KRAS, HRAS, and BRAF genes in bladder cancers" - pmids: - - "22417847" - - text: The BRAF(V600E) mutation might be associated with a more aggressive phenotype and a poor prognosis in classic variant of papillary thyroid carcinomas. - pmids: - - "23163107" - - text: Report of oncogenic BRAF/KRAS mutations in sporadic glomus tumors. - pmids: - - "22317887" - - text: "KRAS, BRAF, and PIK3CA mutations in colorectal cancer have sustained prevalence rate in the Taiwanese population." - pmids: - - "22579930" - - text: These results clearly prove that the BRAFV600E mutation is not associated with the development of distant metastases or fatal outcome in papillary thyroid carcinoma - pmids: - - "22740704" - - text: "Data indicate that KRAS, BRAF, PIK3CA, and AKT1 mutations can be rapidly and accurately detected for cancer diagnosis." - pmids: - - "22938585" - - text: "Compared with BRAF-wt papillary thyroid cancer, those harboring BRAF(V600E) exhibit downregulated VEGFA, VEGFR, and PDGFRbeta expression, suggesting presence of BRAF mutation does not imply stronger response to drugs targeting VEGF and PDGFB signal pathways." - pmids: - - "21653734" - - text: the spectrum and frequency distribution of the identified KRAS and BRAF mutations in Serbian patient with colorectal cancer are in good accordance with literature data. - pmids: - - "23033302" - - text: "study examined the clinical characteristics and outcomes of patients with mutant BRAF advanced cancer; conclude that BRAF appears to be a druggable mutation that also defines subgroups of patients with phenotypic overlap, albeit with differences that correlate with histology or site of mutation" - pmids: - - "22039425" - - text: Postmenopausal hormone therapy was associated with borderline statistically significant risk reductions for BRAF-wildtype tumours among women with prolonged exposure to Postmenopausal hormone therapy. - pmids: - - "22027477" - - text: Reactivation of mitogen-activated protein kinase (MAPK) pathway by FGF receptor 3 (FGFR3)/Ras mediates resistance to vemurafenib in human B-RAF V600E mutant melanoma. - pmids: - - "22730329" - - text: "In papillary thyroid cancer, significant correlations between the methylation status of four genes (TIMP3, RASSF1A, RARbeta2 and DCC) and the V600E BRAF mutation were found." - pmids: - - "22694820" - - text: "Thus, in this meta-analysis, the BRAF mutation in PTC was significantly associated with PTC recurrence, lymph node metastasis, extrathyroidal extension, and advanced stage AJCC III/IV." - pmids: - - "22932786" - - text: Single Nucleotide Polymorphisms in BRAF gene is associated with diseases. - pmids: - - "22824468" - - text: "In signet ring cell carcinoma, BRAF V600E mutation adversely affects survival in microsatellite-stable tumors, but not in high-level microsatellite-unstable tumor" - pmids: - - "22522845" - - text: B-Raf gene mutation primarily occurs at two loci--the exon 11 glycine loop and the activation area of exon 15--in surgically resected specimens of hepatocellular carcinoma patients. - pmids: - - "22190283" - - text: "BRAF p.Val600Lys mutations were present at a relatively high frequency in the cohort of metastatic melanoma patients (27/183, 15%)" - pmids: - - "22614711" - - text: The results of this study supported an important role for BRAF duplication and MAPK pathway activation in gliomas of the optic nerve proper. - pmids: - - "22892521" - - text: BRAF mutation is associated with colorectal serrated adenocarcinoma. - pmids: - - "22287190" - - text: Data indicate that 14% with pancreatic ductal adenocarcinomas (PDACs) and 7% ampullary adenocarcinomas (A-ACs) had mutations in both KRAS and BRAF. - pmids: - - "22699145" - - text: "Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1." - pmids: - - "22773810" - - text: V600E mutation of the BRAF gene reported to be associated with poor prognosis of germ cell tumors in adults prognostic biomarkers cannot necessarily be transferred from one age group to the other. - pmids: - - "22147429" - - text: "The presence of activating GNAS mutations, in association with KRAS or BRAF mutations, is a characteristic genetic feature of colorectal villous adenoma." - pmids: - - "22374786" - - text: Data show that RNF149 (RING finger protein 149) interacts with wild-type BRAF. - pmids: - - "22628551" - - text: BRAF V600E is associated with gliomas. - pmids: - - "22492957" - - text: Highly sensitive and specific molecular assays such as MEMO sequencing are optimal for detecting the BRAF mutations in thyroid FNAC because these techniques can detect PTC that might be missed by cytology or less sensitive molecular assays. - pmids: - - "22500044" - - text: The analysis of BRAF mutations by pyrosequencing is useful to refine the risk stratification of patients with papillary thyroid carcinoma. - pmids: - - "22508706" - - text: "Patient's BRAF mutation was likely responsible for his tumor's marked response to dasatinib, suggesting that tumors bearing kinase-impaired BRAF mutations may be exquisitely sensitive to dasatinib." - pmids: - - "22649091" - - text: "In the present study, we did not find any significant correlations between KRAS, BRAF and PIK3CA mutations and the loss of PTEN expression and various clinicopathological features in Chinese patients with colorectal cancer." - pmids: - - "22586484" - - text: BRAF (V600E) is a prevalent genetic alteration in adult sporadic papillary thyroid carcinoma in Indian cohort and it may be responsible for the progression of its classic variant. - pmids: - - "22105775" - - text: "BRAF V600E mutation-positive papillary thyroid carcinomas (PTCs) displayed infiltrative growth, stromal fibrosis, psammoma bodies, plump eosinophilic tumour cells, and classic fully developed nuclear features of PTC." - pmids: - - "22335197" - - text: "The diagnostic sensitivity for thyroid cancer is significantly increased by BRAF V600E mutation analysis, indicating that the screening for BRAF mutation in FNAB samples has a relevant diagnostic potential." - pmids: - - "22535974" - - text: "The mTOR pathway could be a good target to enhance therapy effects in certain types of thyroid carcinoma, namely in those harboring the BRAF(V600E) mutation." - pmids: - - "22549934" - - text: BRAF mutation is an independent prognostic biomarker for colorectal liver metastasectomy. - pmids: - - "22331825" - - text: "Investigation the prevalence of mutations in the BRAF gene and its correlation with demographic characteristics, tumor location and stage in 100 colorectal carcinoma patients from India." - pmids: - - "22427190" - - text: BRAF/NRAS mutations were identified in 58% of primary melanomas (43% BRAF; 15% NRAS) - pmids: - - "22614978" - - text: Recurrent/persistent PTC in the central compartment typically harbors the BRAF mutation - pmids: - - "22549559" - - text: BRAF mutations are associated with hairy cell leukemia and related lymphoproliferative disorders. - pmids: - - "22133769" - - text: "analysis of a patient with pancreatic metastasis arising from a BRAF(V600E)-positive papillary thyroid cancer [case report]" - pmids: - - "22435913" - - text: BRAF V600E is common in patients with low-risk papillary thyroid carcinoma but does not predict recurrence. - pmids: - - "22515292" - - text: BRAF activating mutations are a major genetic alteration in this histologic group of pediatric low-grade brain tumors. - pmids: - - "20156809" - - text: Cardio-facio-cutaneous syndrome is caused by heterogeneous mutations in BRAF gene. - pmids: - - "22876591" - - text: Eleven patients displayed Durable Disease Control (DDC) of which 55% had BRAF-V600E mutation positive tumors and 45% did not. - pmids: - - "22382362" - - text: Report marked differences in the genetic pattern of the BRAF or NRAS mutated and wild-type melanoma subgroups. - pmids: - - "22456166" - - text: Aberrant gene methylation driven by BRAF(V600E) altered expression of the DNA methyltransferase 1 and histone methyltransferase EZH2 profoundly. - pmids: - - "22189819" - - text: These data support a model where the continuous regenerative process initiated by oncogenic B-RAF-driven alveolar disruption provides a tumor-promoting environment associated with chronic inflammation. - pmids: - - "22194995" - - text: Report upregulation of Bim and the splicing factor SRp55 in melanoma cells from patients treated with selective BRAF inhibitors. - pmids: - - "22516966" - - text: "Data indicate that 266 (76.2%) tumors harbored EGFR mutations, 16 (4.6%) HER2 mutations, 15 (4.3%) EML4-ALK fusions, 7 (2.0%) KRAS mutations, and 2 (0.6%) BRAF mutations." - pmids: - - "22317764" - - text: "Patients with microsatellite instability tumor phenotype had favorable prognosis, but in those with the V600E BRAF mutation higher recurrence rate was observed." - pmids: - - "22210186" - - text: findings show (V600E)B-RAF copy-number gain as a mechanism of acquired B-RAF inhibitor resistance in 4 out of 20 patients treated with B-RAF inhibitor - pmids: - - "22395615" - - text: abrogation of BRAFV600E-induced senescence contributes to melanomagenesis. - pmids: - - "22549727" - - text: Colon adenocarcinomas with BRAF mutations have morphologic characteristics distinct from those with KRAS mutations and BRAF-mutated proximal colonic adenocarcinomas with proficient DNA mismatch repair have an aggressive clinical course. - pmids: - - "22314188" - - text: "Overall, no difference existed in microsatellite instability or BRAF mutation frequencies between African Americans and Caucasians with colorectal neoplasms." - pmids: - - "22114137" - - text: "thieno[2,3-d]pyrimidines are B-Raf inhibitors" - pmids: - - "22137342" - - text: Mutational activation of both BRAF and PIK3CA genes does contribute to hepatocellular tumorigenesis at somatic level in Southern Italian population. - pmids: - - "22258409" - - text: "The prevalence of EGFR, KRAS, BRAF and PIK3CA somatic mutations in 861 randomly selected Chinese patients with non-small cell lung cancer" - pmids: - - "22430133" - - text: "Data indicate that TaqMan(R) Mutation Detection assay is an important technology to consider in the field of mutation detection for KRAS, BRAF and EGFR point mutation screening." - pmids: - - "22426079" - - text: No hotspot mutations in Braf were found in oral squamous cell carcinoma in a Greek population. - pmids: - - "22294102" - - text: The V600E BRAF mutation in papillary thyroid carcinomas may contribute to the initiation of the glycolytic phenotype and confers growth advantages in cancer - pmids: - - "22376167" - - text: "This is the first reported study of the relationship between CK20/CK7 immunophenotype, BRAF mutations and microsatellite status in colorectal carcinomas" - pmids: - - "22361037" - - text: evidence presented that ERK activation occurs in a K-ras or B-raf -independent manner in the majority of primary colon cancer cases; B-raf mutations are not associated with mismatch-repair deficiency through loss of hMLH1 or hMSH2 expression - pmids: - - "22376079" - - text: "review demonstrates that tumour BRAF V600E mutation, and MLH1 promoter 'C region' methylation specifically, are strong predictors of negative MMR mutation status[review]" - pmids: - - "22368298" - - text: "Article reviews the current understanding of BRAF gene, its structure, expression, and signal pathway in non-small cell lung cancer. [Review]" - pmids: - - "22429583" - - text: Patients with serrated polyposis syndrome referred to genetics clinics had a pan-colonic disease with a high polyp burden and a high rate of BRAF mutation. - pmids: - - "22510757" - - text: A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. - pmids: - - "22367297" - - text: Immunohistochemical detection of the mutated V600E BRAF protein in papillary thyroid carcinoma may facilitate mutational analysis in the clinical setting. - pmids: - - "22592144" - - text: the BRAF(V600E) mutation should be considered as a poor prognostic marker in papillary thyroid cancer (Meta-Analysis) - pmids: - - "21882184" - - text: In naive GISTs carrying activating mutations in KIT or PDGFRA a concomitant activating mutation was detected in KRAS (5%) or BRAF (about 2%) genes. I - pmids: - - "22282465" - - text: "In malignant FNABs in papillary thyroid carcinoma, BRAF(V600E) mutation was significantly associated with presence of extra-thyroidal extension and metastases after surgery." - pmids: - - "21948220" - - text: Our results suggest that HCLv and IGHV4-34(+) HCLs have a different pathogenesis than HCLc and that a significant minority of other HCLc are also wild-type for BRAF V600. - pmids: - - "22210875" - - text: Studies indicate that BRAF V600E mutation initiates follicular cell transformation. - pmids: - - "21900390" - - text: Results support evaluation of BRAF(V600E)-specific inhibitors for treating BRAF(V600E) malignant astrocytomas (MA) patients. - pmids: - - "22038996" - - text: Patient diagnosed with colon cancer shows poor prognosis with BRAF genetic mutation. - pmids: - - "22393095" - - text: "MSS/BRAF mutant cancers were more commonly proximal (38/54, 70.3%)." - pmids: - - "21557216" - - text: An update on malignancies displaying high frequencies of BRAF mutations and the mechanisms underlying the side effects and drug resistance phenomena associated with Raf inhibitors. - pmids: - - "22471666" - - text: "This article reviewes the spectrum of KRAS/BRAF genotype and the impact of KRAS/BRAF mutations on the clinicopathological features and prognosis of patients with colorectal cancer. [review]" - pmids: - - "22043994" - - text: "Report mutations in KRAS, EGFR, and BRAF in cholangiocarcinoma and identify therapeutic targets for tyrosine kinase inhibitors." - pmids: - - "22178589" - - text: The BRAF V600E mutation did not show association with clinical or molecular characteristics of colorectal cancer. - pmids: - - "21681432" - - text: BRAF V600E mutation has a significant correlation with papillary thyroid carcinomas. - pmids: - - "21875464" - - text: The BRAF(V600E) mutation analysis from FNA specimens for calcified thyroid nodules may be performed for a greater negative predictive value and unveil the malignancy in 25% of indeterminate or nondiagnostic cytology. - pmids: - - "22451557" - - text: BRAFmut as a useful marker in hairy cell leukemia. - pmids: - - "22331186" - - text: Pyrosequencing of BRAF V600E in routine samples of hairy cell leukaemia identifies CD5+ variant hairy cell leukaemia that lacks V600E. - pmids: - - "22145942" - - text: BRAF mutation is associated with inferior survival in stage III colon cancer. - pmids: - - "22147942" - - text: An integrated approach combining both VE1 mutant protein immunohistochemistry and genetic analysis may increase the diagnostic accuracy of BRAF mutation analysis. - pmids: - - "22012135" - - text: high prevalence of BRAF (V600E) mutation is associated with synchronous bilateral papillary thyroid carcinoma. - pmids: - - "22033631" - - text: The BRAF(V600E) mutation was associated with high-risk clinicopathologic characteristics in patients with papillary thyroid cancer (PTC). The BRAF(V600E) mutation may be a potential prognostic factor in PTC patients. - pmids: - - "22190222" - - text: evidence for heterogeneity of the BRAF(V600E) mutation within individual melanoma tumor specimens - pmids: - - "22235286" - - text: BRAF mutation is not indicative for predicting papillary thyroid cancer prognosis. - pmids: - - "21803329" - - text: papillary thyroid cancers in young patients display a low prevalence of the already identified oncogenic alterations; the increasing prevalence with age is mainly due to V600E BRAF mutation - pmids: - - "22150560" - - text: "During therapy with selective BRAF inhibitors, panniculitis with arthralgia represents a new adverse effect that can require dose reduction." - pmids: - - "22250191" - - text: Effective use of PDT in the treatment of BRAF inhibitor-associated KAs and SCCs. - pmids: - - "22431777" - - text: Ras induces DR5 expression through co-activation of ERK/RSK and JNK signaling pathways - pmids: - - "22065586" - - text: "EFVPTC 1 patient BRAFV600E mutation, NVPTC 2 patients, FVPTC 2 patients." - pmids: - - "22431868" - - text: "CXCR4 expression and BRAF mutation status could cooperatively induce and promote a more aggressive phenotype in papillary thyroid carcinoma through several pathways and specifically increase the tumors' spread outside of the thyroid gland." - pmids: - - "21909080" - - text: The findings show mutant BRAF-induced oncogenic stress manifests itself by DNA damage and growth arrest by activating the pCHK2-p53-p21 pathway.It also confers tumor-promoting phenotypes such as the up-regulation of GLUT1 and enhances glucose metabolism. - pmids: - - "22227015" - - text: Papillary thyroid cancers with no 131I uptake had a high frequency of BRAF mutations. - pmids: - - "17854396" - - text: "Sessile serrated adenomas are precursors of sporadic colorectal cancers with microsatellite instability.Identified a novel surface microstructure, the Type II open-shape pit pattern (Type II-O), which was specific to SSAs with BRAF mutation and CIMP." - pmids: - - "22233696" - - text: The antibody response against the catalytic domain of BRAF is not specific for rheumatoid arthritis. - pmids: - - "22174938" - - text: (BRAF(V600E))detected in 141/170 malignant thyroid nodules (82.9%) (140 PTCs and one follicular variant of PTC). BRAF status not associated with US features with the exception of a negative relation between BRAF(V600E) and an irregular shape (p = 0.004). - pmids: - - "22358007" - - text: No V600E mutation was identified in the BRAF gene in any sample. - pmids: - - "21455633" - - text: No BRAF mutations were found in colon adenocarcinomas from renal transplant recipients. - pmids: - - "22245873" - - text: Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome) - pmids: - - "21871821" - - text: One chronic lymphocytic leukaemia patient and one patient with B-prolymphocytic leukaemia were found to harbour the BRAF V600E mutation - pmids: - - "22230299" - - text: "In sporadic colorectal tumourspatients, the most frequently mutated gene was APC (68.9% of tumours), followed by KRAS (31.1%), TP53 (27.2%), BRAF (8.7%) and CTNNB1 (1.9%)." - pmids: - - "21901162" - - text: "BRAF mutation in papillary thyroid carcinoma is a later subclonal event, its intratumoral heterogeneity may hamper the efficacy of targeted pharmacotherapy, and its association with a more aggressive disease should be reevaluated." - pmids: - - "22170714" - - text: "Case Report: describe case of follicular thyroid carcinoma with BRAF mutation." - pmids: - - "22136270" - - text: "None of the molecular marker mutations that were analyzed in this study, including the BRAF mutation, predicted lymph node metastasis in classic papillary thyroid carcinoma." - pmids: - - "22249628" - - text: "BRAF and KRAS mutations were observed in six (46.2%) and four (30.3%) filiform serrated adenomaS, respectively." - pmids: - - "22157687" - - text: Findings suggest that the BRAF inhibitor vemurafenib in combination with standard-of-care or novel targeted therapies may lead to enhanced and sustained clinical antitumor efficacy in CRCs harboring the BRAF(V600E) mutation. - pmids: - - "22180495" - - text: A prominent epigenetic mechanism through which BRAF V600E can promote papillary thyroid cancer tumorigenesis by altering the methylation and hence the expression of numerous important genes. - pmids: - - "21937738" - - text: "BRAF(V600E) causes upregulation of TIMP-1 via NF-kappaB. TIMP-1 binds then its surface receptor CD63, leading eventually to Akt activation, which in turn confers antiapoptotic behavior and promotion of cell invasion." - pmids: - - "21903858" - - text: These results provide a functional link between oncogenic BRAF and angiogenesis. - pmids: - - "22203991" - - text: identified concurrent mutational inactivation of the PTEN and RB1 tumor suppressors as a mechanism for loss of BRAF/MEK dependence in melanomas harboring (V600E)BRAF mutations - pmids: - - "21725359" - - text: Aberrant CIMP was detected in 16% of chromosomal instable tumors and in 44% of both microsatellite instable and microsatellite and chromosomally stable carcinomas - pmids: - - "21915661" - - text: samples of metastatic colorectal cancer were tested for the presence of the seven most common mutations in the KRAS gene and the V600E mutation in the BRAF gene - pmids: - - "20645028" - - text: BRAF V600E mutation is associated with recurrent papillary thyroid cancer. - pmids: - - "21594703" - - text: The application of BRAF(V600E) mutation analysis in US-guided FNAB can improve the diagnostic accuracy of thyroid nodules. - pmids: - - "21707687" - - text: this novel B-Raf fusion protein (SND-1 was identified as the B-Raf fusion partner) presents a novel target with potential clinical implications in the treatment of patients resistant to c-Met inhibitors. - pmids: - - "21936566" - - text: "In patients with colorectal adenocarcinoma, there were significant differences between BRAF wild-type and mutant tumors in age, female sex, proximal tumor location, frequency of microsatellite instability, and survival." - pmids: - - "22228154" - - text: Findings suggest that inhibition of Raf-MEK-Erk pathway might offer a novel therapeutic strategy in neuroendocrine tumors - pmids: - - "21317202" - - text: "BAG3 protein sustains anaplastic thyroid tumor growth in vitro and in vivo. The underlying molecular mechanism appears to rely on BAG3 binding to BRAF, thus protecting it from proteasome-dependent degradation." - pmids: - - "22072743" - - text: BRAF V600E mutation is associated with hairy cell leukemia and B-cell neoplasms - pmids: - - "22028477" - - text: Braf mutation in metastatic melanoma treated with BRAF inhibitor vemurafenib. - pmids: - - "21863388" - - text: analysis of BRAF gene mutations in non-small cell lung cancer - pmids: - - "22199339" - - text: The frequency of BRAF-KIAA1549 fusion transcripts is significantly lower in adult patients with pilocytic astrocytoma. - pmids: - - "21696415" - - text: "Although it constitutes a poor prognostic factor in colorectal cancer, it is not conclusive if it interferes with a poor therapeutic effect when cetuximab is used.[review]" - pmids: - - "22214007" - - text: BRAF V600E mutation is associated with hairy cell leukemia and other mature B-cell neoplasms - pmids: - - "22072557" - - text: "RET mutations may have a role in medullary thyroid carcinoma, while BRAF, AKT1, and CTNNB1 do not; the role of HRAS, KRAS, and NRAS mutations are not determined" - pmids: - - "22199277" - - text: "BRAF mutations, but not KRAS mutations, were associated with a worse outcome in Chinese colorectal cancer patients." - pmids: - - "21553007" - - text: BRAF mutations and llelic loss of susceptibility loci are associated with familial non-medullary thyroid cancer. - pmids: - - "21826673" - - text: Murine thyroid tumors carrying the human BRAF(V600E) mutations are exquisitely dependent on the oncoprotein for viability. - pmids: - - "22105174" - - text: "Patients with mutations in BRAF or NRAS gene are frequently present with ulceration, and mutation in BRAF or NRAS gene is indicator for poor prognosis." - pmids: - - "21788131" - - text: "BRAF(V600E) mutation analysis using residual liquid-based preparation cytologic samples is, therefore, a powerful additional diagnostic tool for diagnosis of papillary thyroid carcinoma." - pmids: - - "21774961" - - text: BRAF mutation V600E significantly induces cell migration and invasion properties in vitro in colon cancer cells - pmids: - - "21943101" - - text: BRAF mutations are of pathogenetic significance in wild type gastrointestinal stromal tumors. - pmids: - - "21906875" - - text: "In the present series, no BRAF mutation was detected. The presence of KRAS mutations and loss of PTEN expression were not associated with impaired response to cetuximab-based chemoradiotherapy and 3-year disease free survival." - pmids: - - "20947270" - - text: introduction of constitutively active BRAF V600E into human cortical stem and progenitor cells initially promotes clonogenic growth in soft agar but ultimately results in dramatically reduced proliferation and arrested growth of the culture. - pmids: - - "21636552" - - text: study reports that V600E and non-V600E BRAF mutations affect different patients with non-small-cell lung cancer; V600E mutations are significantly associated with female sex and represent a negative prognostic factor - pmids: - - "21825258" - - text: "B-Raf mutations, microsatellite instability and p53 protein expression is not associated with sporadic basal cell carcinomas." - pmids: - - "21274671" - - text: "Analysis showed that blood samples with PCR evidence for CMC were heterogeneous for BRAF status under limiting-dilution conditions, suggestive of heterogeneity of CMC" - pmids: - - "21570823" - - text: B-Raf signaling has a key function in the altered expression of contractile receptors in the cerebrovasculature. - pmids: - - "21223556" - - text: BRAF mutation is associated with papillary thyroid cancer. - pmids: - - "21412762" - - text: The high expression of activated ERK is not caused by BRAF gene mutation in nasal mucosa malignant melanomas. - pmids: - - "21223812" - - text: "We describe a new mutation of BRAF, T599dup, in a case of anaplastic thyroid carcinoma with tall cell papillary thyroid carcinomas component." - pmids: - - "21716161" - - text: Importance of infiltrative growth pattern and invasiveness over presence of BRAF mutation in classic and follicular variant papillary thyroid carcinoma for development of nodal metastases. - pmids: - - "21796448" - - text: Studies indicate that Raf kinases are excellent molecular targets for anticancer therapy. - pmids: - - "21577205" - - text: "BRAF mutation of papillary thyroid carcinoma may have differential predictive values for LN metastasis, according to tumor size." - pmids: - - "21750338" - - text: "MEK1(F129L) mutation also strengthened binding to c-Raf, suggesting an underlying mechanism of higher intrinsic kinase activity" - pmids: - - "21705440" - - text: "The BRAF/MEK/ERK pathway is upregulated in progressive retinal arterial macroaneurysm patients, caused by mutation in IGFBP7." - pmids: - - "21835307" - - text: "There were no significant differences in the frequency of BRAF mutations among lesions exhibiting the hyperplastic, adenomatous, or mixed patterns." - pmids: - - "21427714" - - text: Findings suggest inhibition of autophagy in combination with ER stress-inducing agents may represent a means by which to harness autophagy for the therapeutic benefit of B-RAF wild-type melanoma. - pmids: - - "21270111" - - text: "reduced RKIP mRNA levels and the elevated levels of B-RAF in pT1, grade III tumors vs. normal tissue, corroborate that these genes are involved in the pathogenesis of urinary bladder cancer." - pmids: - - "20853079" - - text: Eight of 16 primary tumor samples and 4 of 6 metastatic samples showed BRAF V600E gene mutations and no copy number changes were associated exclusively with metastatic cancer - pmids: - - "21693616" - - text: The presence of the BRAF(V600E) mutation may play different roles between medium and giant CMNs in melanocytic tumorigenesis. - pmids: - - "21430505" - - text: Heterogeneity of KRAS and BRAF mutation status intra-tumorally in colorectal cancer was assessed. - pmids: - - "21483104" - - text: Mutated BRAF is detected in approximately 45% of papillary thyroid carcinomas (PTC). - pmids: - - "21512141" - - text: "findings support the notion that BRAF(V600E), which can be detected preoperatively in papillary thyroid carcinoma fine-needle aspiration biopsy material, has a potential to contribute to patients stratification into high- and low-risk groups." - pmids: - - "21498916" - - text: This study demonistrated that the role of RAF kinase fusions as a central oncogenic mechanism in the development of pilocytic astrocytoma. - pmids: - - "21424530" - - text: "tumor initiation by oncogenic BRAF renders thyroid cells susceptible to TGFbeta-induced epithelial-mesenchymal transition, through a MAPK-dependent process" - pmids: - - "21383698" - - text: "In papilary thyroid carcinoma, the BRAFT1799A mutation is associated with age over 60 & a tumor size of 1cm or greater, but not with other clinicopathological characteristics, tumor recurrence or persistence." - pmids: - - "21441079" - - text: Activated BRAF promotes melanoma cell growth by matrix metalloproteinase-1 - pmids: - - "21451543" - - text: Regulation of NR4A nuclear receptor expression by oncogenic BRAF in melanoma cells. - pmids: - - "21362156" - - text: Although many studies document BRAF mutation as a prognostic factor in PTC our results underline that it is too early to consider it as a routine clinical predictive factor. - pmids: - - "21049459" - - text: "Thus, MEK1(C121S) or functionally similar mutations are predicted to confer drug resistance of neoplasms to combined MEK/RAF inhibition." - pmids: - - "21383288" - - text: BRAF mutations are specific for serrated adenocarcinoma and identify a subset of serrated adenocarcinomas with gene methylation and a tendency for MSI-H - pmids: - - "21457162" - - text: BRAF T1799A mutation may be an early and essential carcinogenic event in nearly all Korean papillary thyroid carcinomas - pmids: - - "21431280" - - text: "study suggested that both KRAS and BRAF mutations are exclusive, but KRAS and PIK3CA mutations are coexistent" - pmids: - - "21424126" - - text: "Wnt5a methylation was strongly associated with tumour microsatellite instability tumours after adjustment for age, sex, and tumour location and with BRAF V600E mutation, a marker of CpG island methylator phenotype" - pmids: - - "21587258" - - text: "analysis of gallbladder carcinomas, gallbladder adenomas, and high-grade dysplastic lesions for the BRAF and the KRAS mutations" - pmids: - - "21307665" - - text: "the oncogenic effect of BRAF(V600E) is associated with the inhibition of MST1 tumor suppressor pathways, and the activity of RASSF1A-MST1-FoxO3 pathways determines the phenotypes of BRAF(V600E) tumors." - pmids: - - "21249150" - - text: "Primary esophageal melanomas of Caucasian patients harbor mutations of c-Kit, KRAS and BRAF in varied frequencies." - pmids: - - "21131919" - - text: BRAF V600E mutation is associated with lack of response in wild-type KRAS metastatic colorectal cancer treated with anti-EGFR monoclonal antibodies. - pmids: - - "20857202" - - text: BRAF V600E mutations are common in the majority of pleomorphic xanthoastrocytoma. - pmids: - - "21479234" - - text: identified BAD serine 134 to be strongly involved in survival signaling of B-RAF-V600E-containing tumor cells and found that phosphorylation of BAD at this residue is critical for efficient proliferation in these cells. - pmids: - - "21317286" - - text: Ablation of B-Raf had no significant effect on development of K-Ras oncogene-driven non-small cell lung carcinoma. - pmids: - - "21514245" - - text: "Amplification of the driving oncogene, KRAS or BRAF, underpins acquired resistance to MEK1/2 inhibitors in colorectal cancer cells." - pmids: - - "21447798" - - text: "Mutations at the position V600 of BRAF were described in approximately 8% of all solid tumors, including 50% of melanomas, 30 to 70% of papillary thyroid carcinomas and 5 to 8% of colorectal adenocarcinomas." - pmids: - - "21426297" - - text: "K-ras gene mutation is a common event in Chinese colorectal cancer (CRC) patients, but may not be a prognostic factor in CRC , while BRAF is rarely mutated in Chinese CRC patients." - pmids: - - "21390154" - - text: Ras/Raf/MAPK and RhoA/ROCKII signalling pathways are abnormally activated in eutopic endometrial stromal cells of patients with endometriosis - pmids: - - "21303778" - - text: BRAF mutations have a smaller role in the carcinogenesis of malignant melanoma in Chinese Han than in Western patients. - pmids: - - "21326296" - - text: Studies showed that siRNA knockdown of BIM significantly blunted the apoptotic response in PTEN+ melanoma cells. - pmids: - - "21317224" - - text: "Allele-specific qPCR assays for the most frequent activating mutations in EGFR, KRAS, BRAF and PIK3CA in tumor-positive fine needle cytological aspirates were compared against histological material of primary tumors." - pmids: - - "21408138" - - text: 78 colorectal tumor samples were mutant for BRAF. - pmids: - - "21305640" - - text: B-Raf associates with and stimulates NHE1 activity and that B-Raf(V600E) also increases NHE1 activity that raises intracellular pH. - pmids: - - "21345796" - - text: "These results show that melanoma cell phenotype is an important factor in MAPK pathway inhibition response, as invasive phenotype cell response is dependent on BRAF mutation status." - pmids: - - "21176117" - - text: "Data show that BRAF-mutated melanomas occur in a younger age group on skin without marked solar elastosis and less frequently affect the head and neck area, compared to melanomas without BRAF mutations." - pmids: - - "21324100" - - text: The BRAF V600E mutation was present in all patients with hairy-cell leukemia who were evaluated. - pmids: - - "21663470" - - text: "KSR interacts with a regulatory Raf molecule in cis to induce a conformational switch of MEK, facilitating MEK's phosphorylation by a separate catalytic Raf molecule in trans" - pmids: - - "21441910" - - text: We show a strong association between concordant methylation of >/= 3 of five 3p22 genes with the CpG island methylator phenotype and the BRAF V600E mutation. - pmids: - - "21102416" - - text: BRAF(V600E) mutation is associated with thyroid nodules. - pmids: - - "20945104" - - text: "The analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma." - pmids: - - "21274720" - - text: findings indicate that somatic mutations in KRAS and PIK3CA but not BRAF oncogenes are closely associated with the development of cholangiocarcinoma in Chinese population - pmids: - - "21051183" - - text: BRAF mutations were rare in colorectal laterally-spreading tumors. - pmids: - - "21332555" - - text: 803 metastatic colorectal cancer samples studied for KRAS exon 2 and BRAF exon 15 mutations; BRAF mutated samples were characterized for mismatch repair function; 344 tumours were mutated -34 involving BRAF mutations (8 of microsatellite instability type) - pmids: - - "21289333" - - text: identifying downstream events from the BRAFV600E/ERK1/2 pathway will eventually identify novel biomarkers that can be used to correlate with disease outcome and overall survival. - pmids: - - "21321384" - - text: The BRAF mutation was frequently detected in patients with superficial spreading melanoma (OR=2.021; P<0.001) and in melanomas arising in nonchronic sun-damaged skin (OR=2.043; P=0.001). - pmids: - - "21166657" - - text: PIK3CA mutations may have a role in KRAS and BRAF wild type colorectal cancer - pmids: - - "20571907" - - text: "The presence of mutant BRAF had no impact on the disease-free interval from diagnosis of first-ever melanoma to first distant metastasis; however, it may have impacted survival thereafter." - pmids: - - "21343559" - - text: BRAF mutational status yielded no useful prognostic information in predicting recurrence and benefits from adjuvant chemotherapy in colorectal cancer. - pmids: - - "21383284" - - text: IDH1 mutation works with other oncogenic mutations and could contribute to the metastasis in melanoma. - pmids: - - "21356389" - - text: We found that performing BRAF(V600E) mutation analysis on the fine-needle aspiration biopsy specimens was of great help to make a therapeutic decision for thyroid nodules when the fine-needle aspiration biopsy results were equivocal - pmids: - - "21239517" - - text: "HER2, but not EGFR gene amplification, is frequently observed in KRAS and BRAF wild type colorectal cancer patients" - pmids: - - "20563851" - - text: concluded that follicular variant of papillary thyroid carcinoma differs from conventional papillary thyroid carcinoma in the rate of BRAF mutation - pmids: - - "21167555" - - text: BRAF mutation is associated with selective inhibition of thyroid cancer cells by the novel MEK inhibitor RDEA119 and genetic-potentiated synergism with the mTOR inhibitor temsirolimus - pmids: - - "21351275" - - text: "Data show that among 181 CRC patients, stratified by microsatellite instability status, DNA sequence changes were identified in KRAS (32%), BRAF (16%), PIK3CA (4%), PTEN (14%) and TP53 (51%)." - pmids: - - "21103049" - - text: Presence of mutated BRAF is one of the most powerful prognostic factors for advanced and recurrent CRC - pmids: - - "21285991" - - text: KRAS mutations arise more frequently than BRAF mutations in Moroccan patients with colorectal carcinomas. - pmids: - - "21161938" - - text: BRAF mutation is associated with papillary thyroid microcarcinoma. - pmids: - - "20953721" - - text: "Anti-BRAF autoantibodies from RA patients preferentially recognize one BRAF peptide: P2" - pmids: - - "20955560" - - text: "Acquisition of a BRAF mutation is not a founder event, but may be one of the multiple clonal events in melanoma development, which is selected for during the progression." - pmids: - - "21224857" - - text: "Mutations of EGFR, BRAF, and KRAS in adenocarcinoma were mutually exclusive and inversely correlated with RASSF1A methylation" - pmids: - - "21102258" - - text: first report implicating BRAF mutation in OSCC. study supports that mutations in the BRAF gene makes at least a minor contribution to OSCC tumorigenesis. - pmids: - - "20813562" - - text: The V600E BRAF mutation confers a worse prognosis to stage II and stage III colon cancer patients independently of disease stage and therapy. - pmids: - - "20501503" - - text: "In melanoma cells, oncogenic (V600E) BRAF signaling downregulates PDE5A through the transcription factor BRN2, leading to increased cGMP and Ca2+ and the induction of invasion through increased cell contractility." - pmids: - - "21215707" - - text: "Data show that BRAF knockdown led to suppression of the expression of the GABPbeta, which involved in regulating HPR1 promoter activity." - pmids: - - "21076620" - - text: BRAF mutation is rare in advanced-stage low-grade ovarian serous carcinomas. - pmids: - - "20802181" - - text: The dermoscopical and histopathological patterns of nevi correlate with the frequency of BRAF mutations. - pmids: - - "21068756" - - text: this study has confirmed that the BRAF(T1799A) mutation confers cancer cells sensitivity to PLX4032 and demonstrated its specific potential as an effective and BRAF(T1799A) mutation-selective therapeutic agent for thyroid cancer. - pmids: - - "21185263" - - text: "BRAF is mutated in a low percentage of follicular variant of papillary thyroid carcinoma, and most of these mutated cases are suspicious or positive on fine-needle aspiration." - pmids: - - "20950194" - - text: These findings suggest that BRAF mutations may be associated with the pathogenesis of sessile serrated colorectal adenomas. - pmids: - - "21263251" - - text: BRAF gene amplification can promote acquired resistance to MEK inhibitors in cancer cells harboring the BRAF V600E mutation. - pmids: - - "21098728" - - text: melanomas escape B-RAF(V600E) targeting not through secondary B-RAF(V600E) mutations but via receptor tyrosine kinase (RTK)-mediated activation of alternative survival pathway(s) or activated RAS-mediated reactivation of the MAPK pathway - pmids: - - "21107323" - - text: identification of MAP3K8 (the gene encoding COT/Tpl2) as a MAPK pathway agonist that drives resistance to RAF inhibition in B-RAF(V600E) cell lines - pmids: - - "21107320" - - text: Mutant Braf can be detected in RNA from mixed populations with as few as 0.1% Braf(V600E) mutant cells. - pmids: - - "20679909" - - text: BRAF mutation detection in fine needle biopsy may be an adjunct tool for preoperative didagnosis of papillary thyroid carcinoma. - pmids: - - "20837233" - - text: BRAF alternative splicing is differentially regulated in human and mouse. BRAF exon 9b is required for learning and memory associated with the hippocampus. - pmids: - - "21203559" - - text: RET rearrangements and BRAF mutation in undifferentiated thyroid carcinomas having papillary carcinoma components - pmids: - - "20840674" - - text: "Using traditional PCR and direct sequencing, we found KRAS mutations in 47 (40%) patients and BRAF(V600E) in 10 (8.5%)" - pmids: - - "20616366" - - text: BRAF mutations activate the mitogen-activated protein kinase pathway and confer an aggressive thyroid cancer phenotype. - pmids: - - "21134562" - - text: BRAF mutation in papillary thyroid carcinoma is associated with an increased risk of palpable nodal recurrence and the need for reoperative surgery. - pmids: - - "21134544" - - text: It therefore appears that BRAF mutations may play a strong negative prognostic role and only a slight role in resistance to anti-EGFR Abs. - pmids: - - "21129611" - - text: The BRAF 1799T>A mutation was found in 5 of 19 (26%) of infiltrative follicular variant of papillary thyroid carcinomas and in none of the encapsulated carcinomas - pmids: - - "20526288" - - text: Braf mutation is associated with basal and treatment-induced regulation of the PI3K-AKT pathway as a critical regulator of AZD6244 sensitivity in cutaneous melanoma. - pmids: - - "20959481" - - text: association between MC1 receptor germline variation and BRAF/NRAS mutations in melanoma - pmids: - - "20720566" - - text: V600E BRAF mutation is not associated with seminoma. - pmids: - - "20607849" - - text: PLX4032 has robust activity in BRAF mutated melanoma. - pmids: - - "20689758" - - text: "A BRAF aberrant splice variant with an intact kinase domain and partial loss of the N-terminal autoinhibitory domain was identified in fibroblasts from an additional patient, and fibroblast proliferation was inhibited by BRAF-specific siRNA." - pmids: - - "20843808" - - text: Describe benign serrated colorectal fibroblastic polyps/intramucosal perineuriomas are true mixed epithelial-stromal polyps (hybrid hyperplastic polyp/mucosal perineurioma) with frequent BRAF mutations. - pmids: - - "20962618" - - text: in melanomas activation of the MAPK pathway can occur through signaling pathways operating independently of BRAF T1799A - pmids: - - "20605766" - - text: Findings delineate how mutant B-RAF protects melanoma cells from apoptosis and provide insight into possible resistance mechanisms to B-RAF inhibitors. - pmids: - - "20647317" - - text: Hypoxia-inducible factor-1alpha is expressed in papillary thyroid carcinomas and is regulated not only by hypoxia but also by BRAF(V600E)-mediated signaling pathway. - pmids: - - "20473281" - - text: Determination of the BRAF mutation and the growth fraction of melanomas may add a prognostic value. - pmids: - - "20944096" - - text: Activated Raf-1 induces focal adhesion kinase expression and regulates neuroendocrine and metastatic phenotypes in gastrointestinal carcinoid cell line BON. - pmids: - - "20407018" - - text: "With MSI, specific KRAS and BRAF mutations, 3 distinct prognostic subgroups were observed: patients with (i) KRAS mutation G12D, G12V or BRAFmutation, (ii) KRAS/BRAFwild-type or KRAS G13D mutations in MSS/MSI-L and (iii) MSI-H and KRAS G13D mutations." - pmids: - - "20162668" - - text: Incidence of cancer in FDRs of index CRC patients with the p.V600E BRAF mutation may be explained by a genetic predisposition to develop cancer through the serrated pathway of colorectal carcinogenesis. - pmids: - - "20570909" - - text: Studies identified the oncogenic BRAF V600E mutation in 35 of 61 archived specimens (57%). - pmids: - - "20519626" - - text: "allele specific Taqman-based real-time PCR assay allows the sensitive, accurate and reliable measurement of BRAF(V600E) mutated DNA in plasma" - pmids: - - "20576522" - - text: No significant difference in BRAF alterations was found between pT1 tumors and thyroid capsule invasion and pT3 tumors. - pmids: - - "20631031" - - text: BRAF mutational status of metastases is not required when the primary tumour is BRAF wild type. - pmids: - - "20573852" - - text: "reports the low frequency of PIK3CA and B-RAF mutations in astrocytomas, despite the presence of activated ERK and AKT proteins" - pmids: - - "20569675" - - text: This study identified an exceptionally high frequency of KIAA1549-BRAF fusions in pilocytic astrocytoma. - pmids: - - "20454969" - - text: The BRAF V600E mutational status appears to be of limited diagnostic utility in distinguishing genital naevi that exhibit atypia from those that do not. - pmids: - - "19919630" - - text: The knowledge of BRAF mutation status can facilitate more accurate risk stratification and better decision making at various steps in the management of papillary thyroid cancer. - pmids: - - "19883729" - - text: BRAFV600E mutation is associated with high-risk clinicopathological characteristics of papillary thyroid carcinoma and worse prognosis of patients - pmids: - - "20009493" - - text: "if KRAS is not mutated, assessing BRAF, NRAS, and PIK3CA exon 20 mutations (in that order) gives additional information about the efficacy of cetuximab plus chemotherapy in metastatic colorectal cancer." - pmids: - - "20619739" - - text: Traditional DNA sequencing and the somewhat more-sensitive pyrosequencing method can detect multiple alternative BRAF mutations. - pmids: - - "20670148" - - text: "Screening for BRAF, RET, KRAS, NRAS, and HRAS mutations, as well as RET-PTC1 and RET-PTC3 rearrangements, was performed on cases of Hashimoto thyroiditis with a dominant nodule" - pmids: - - "20012784" - - text: PCR is practically applicable to KRAS/BRAF genotyping using small amounts of biopsied colorectal tumor cells. - pmids: - - "20627194" - - text: The miR-146b expression levels in papillary thyroid carcinoma with BRAF mutation were significantly higher than those without this mutation - pmids: - - "20406109" - - text: B-RAF(V600E) can protect melanocytes from anoikis independently of cell cycle inhibition - pmids: - - "20445557" - - text: "pathogenesis of papillary thyroid cancer , and the clinical implications of BRAF(V600E) mutation in the diagnosis, prognosis and potential targeted therapeutic strategies for thyroid cancer [review]" - pmids: - - "20230995" - - text: BRAF mutations only in metastases is not associated with resistance to anti-EGFR treatment in primary colorectal tumors. - pmids: - - "20049644" - - text: BRAF gene rearrangements were more common in cerebellar pilocytic astrocytoma than non-cerebellar tumors; clinical outcome was independent of BRAF status - pmids: - - "20044755" - - text: "BRAF mutation is not associated with interval cancers but is a marker of poor prognosis, particularly in microsatellite stable cancers." - pmids: - - "20300843" - - text: Knockdown of B-Raf(V600E) resulted in thrombospondin-1 down-regulation and a reduction of adhesion and migration/invasion of human thyroid cancer cells. - pmids: - - "20498063" - - text: "Data demonstrate a signaling loop between B-Raf activation and p73 function, and suggest that low expression of TAp73 in colorectal cancer cell lines with mutated B-Raf may lead to lack of response to oxaliplatin/cetuximab." - pmids: - - "20146801" - - text: BRAF mutation may be used a biomarker for the selection of patients with colorectal cancer patients who might benefit from anti-egf receptor monoclonal antibodies. - pmids: - - "20514492" - - text: BRAF V600E mutations are associated with MSI-H status and cyclin D1 overexpression and characterize a subgroup of patients with poor prognosis. - pmids: - - "20485284" - - text: "Meta-analysis of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "20514492" - - text: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) - pmids: - - "20379614" - - text: Formalin-fixed primary melanomas from relapsed and nonrelapsed patients were sequenced for common BRAF and NRAS mutations. BRAF/NRAS mutations were detected in 77% of relapsers and 58% of nonrelapsers and did not predict ulceration or mitotic rate. - pmids: - - "20140953" - - text: we measured the prevalence and epidemiologic correlates of the BRAF V600E somatic mutation in cases collected as a part of a population-based case-control study of colorectal cancer in northern Israel. - pmids: - - "20200438" - - text: BRAF gene mutation is associated with colorectal cancer. - pmids: - - "19908233" - - text: "High oncogenic BRAF levels trigger autophagy, which may have a role in melanoma tumor progression." - pmids: - - "20182446" - - text: BRAF mutations are not relevant for rectal carcinogenesis - pmids: - - "19913317" - - text: Study concludes that the secreted protein IGFBP7 is dispensable for B-RAF(V600E)-induced senescence in human melanocytes. - pmids: - - "20478260" - - text: thyroid carcinoma with the BRAF(V600E) mutation tends to be taller than wide and is not associated with the presence of calcifications on ultrasound. - pmids: - - "20410389" - - text: no support for MC1R variants with BRAF mutation for melanoma risk - pmids: - - "20043015" - - text: "data support the model of BRAF and K-ras mutations arising in distinct colorectal cancer subsets associated with different clinicopathological and dietary factors, acting as mutually exclusive mechanisms of activation of the same signalling pathway" - pmids: - - "20233436" - - text: "Studies show FOXD3 is suppressed by B-RAF, uncover a novel role and mechanism for FOXD3 as a negative cell cycle regulator, and have implications for the repression of melanocytic lineage cells." - pmids: - - "20332228" - - text: "Whenever necessary BRAF testing may be performed on the residual samples of thyroid nodules, without interfering with routine cytology." - pmids: - - "19693938" - - text: "Our study suggests that mutations of KRAS, not BRAF, may play a role in the pathogenesis of prostate carcinoma in Chinese patients." - pmids: - - "20303012" - - text: "In this study, 28 matched tumor and serum samples obtained from patients with both benign and malignant thyroid disorders were analyzed for BRAF mutation." - pmids: - - "19626635" - - text: BRAF T1796A mutation was identified in 27% of papillary thyroid cancer samples and its identification may be used to determine this risk factor of the development of papillary thyroid cancer. - pmids: - - "19960590" - - text: data argues against obligatory downregulation in IGFBP7 expression in BRAF mutated melanoma cells - pmids: - - "19829302" - - text: CpG island methylator phenotype (CIMP)-specific inactivation of BRAF(V600E)-induced senescence and apoptosis pathways by IGFBP7 DNA hypermethylation might create a favorable context for the acquisition of BRAF(V600E) in CIMP+ colorectal cancer. - pmids: - - "20027224" - - text: "BRAF(V600E) mutation seems to define a subset of malignant astrocytomas in children, in which there is frequent concomitant homozygous deletion of CDKN2A (five of seven cases)." - pmids: - - "20068183" - - text: v-Raf murine sarcoma viral oncogene mutations are common in ovarian serous bordeline tumors. - pmids: - - "19955937" - - text: BRAF V600E mutations were seen in 83% of proximal and 74% of distal hyperplastic colonic polyps - pmids: - - "19855373" - - text: 2-fold increased risk of BRAF V600E colonic tumor mutation was observed in current and former cigarette smokers homozygous for the OGG1 polymorphism - pmids: - - "19959686" - - text: Study identified the previously reported pathogenic mutation of NTRK3 in a KRAS/BRAF wild-type tumor and 2 somatic mutations in the Src family of kinases (YES1 and LYN) that would be expected to cause structural changes. - pmids: - - "19893451" - - text: analysis of the effect on the Ras/Raf signaling pathway of post-translational modifications of neurofibromin - pmids: - - "19718661" - - text: analysis of coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations - pmids: - - "19759551" - - text: This study provides a basis for understanding the molecular processes that are regulated by (V600E)BRAF/MEK signalling in melanoma cells. - pmids: - - "19682280" - - text: EPAC-mediated cellular effects require activation of the B-Raf/ERK and mTOR signaling cascades - pmids: - - "19725049" - - text: "Hyperactivation of BRAF-MEK signaling activates MAP2 expression in melanoma cells by two independent mechanisms, promoter demethylation or down-regulation of neuronal transcription repressor HES1." - pmids: - - "19880519" - - text: We observed no association between germline MC1R status and somatic BRAF mutations in melanomas - pmids: - - "19571821" - - text: BRAFV600E mutation is associated with papillary thyroid carcinoma. - pmids: - - "19644722" - - text: "Results show that activating BRAF somatic mutations may be occasionally found in advanced adrenocortical carcinomas, while CTNNB1 activating mutations are early and common events in adrenal tumorigenesis." - pmids: - - "19498322" - - text: Suppression of BRAF gene expression inhibited cell proliferation in cells with BRAF(V600E) mutation. - pmids: - - "19878585" - - text: "Investigated the prevalence of PTPN11, HRAS, KRAS, NRAS, BRAF, MEK1, and MEK2 mutations in a relatively large cohort of primary embryonal Rhabdomyosarcoma (RMS) tumors. No mutation was observed in BRAF and MEK genes." - pmids: - - "19681119" - - text: "Studies indicate that in pilocytic astrocytomas, the BRAF fusion gene has been identified as a specific and frequent event leading to potentially targetable mitogen-activated protein kinase pathway activation." - pmids: - - "19667985" - - text: BRAF V600E detection in the tumor does not induce a higher expression of the B-raf protein or the preferential activation of the p42/44 mitogen-activated protein kinase (MAPK) signaling pathway compared with GISTs without the BRAF mutation. - pmids: - - "20023270" - - text: "Studies indicate that drugs are effective in targeting essential molecular pathways of BRAF, PTEN, Akt and mammalian target of rapamycin." - pmids: - - "19679016" - - text: "Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "19956635" - - text: The BRAF(V600E) mutation can be used as a potential prognostic factor in PTMC patients in a BRAF(V600E)-prevalent area. - pmids: - - "19710001" - - text: BRAF and KRAS oncogenes have different transforming capability in colon cancer - pmids: - - "19881948" - - text: BRAF(T1799A) can be detected in the blood of papillary thyroid carcinoma patients with residual or metastatic disease and may provide diagnostic information - pmids: - - "19850689" - - text: "clinical, cytologic, and pathologic parameters of 106 consecutive surgically treated patients with BRAF-positive PTC were compared with a concurrent cohort of 100 patients with BRAF-negative PTC (papillary thyroid carcinoma)" - pmids: - - "19958951" - - text: study of KRAS/BRAF mutation status in a large and well-documented cohort of primary and metastatic renal cell carcinoma - pmids: - - "19282104" - - text: "BRAF status, EGFR amplification, and cytoplasmic expression of PTEN were associated with outcome measures in KRAS wild-type patients treated with a cetuximab-based regimen." - pmids: - - "19884556" - - text: KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan. - pmids: - - "19884549" - - text: These data demonstrate the feasibility of BRAF mutation detection in cfDNA of patients with advanced melanoma. Future studies should aim to incorporate BRAF mutation testing in cfDNA to further validate this biomarker for patient selection. - pmids: - - "19861964" - - text: Insights into the molecular function of the inactivating mutations of B-Raf involving the DFG motif. - pmids: - - "19735675" - - text: BRAF V600E may have a role in development of papillary thyroid carcinoma - pmids: - - "19534623" - - text: CTNNB1 and BRAF mutations may have roles in the cribriform-morular variant of papillary thyroid carcinoma - pmids: - - "19534622" - - text: Mutated BRAF is a target in metastatic melanomas - pmids: - - "19624312" - - text: Beta-catenin nuclear labeling is a common feature of sessile serrated adenomas and correlates with early neoplastic progression after BRAF activation. - pmids: - - "19745699" - - text: "As predicted from the genomic organization at this locus, 22 of 36 patients with sporadic pilocytic astrocytomas and B-Raf gene rearrangement also exhibit corresponding homeodomain interacting protein kinase-2 (HIPK2) gene amplification." - pmids: - - "19794125" - - text: Characterization of candidate gene copy number alterations in the 11q13 region along with BRAF and NRAS mutations in human melanoma. - pmids: - - "19633643" - - text: BRAFV600E oncogene induces transforming growth factor beta secretion leading to sodium iodide symporter repression and increased malignancy in thyroid cancer. - pmids: - - "19861538" - - text: "The result showed that the mutation rate of PIK3CA in nasopharyngeal carcinomas (n = 73) was 9.6%, whereas both BRAF (n = 65) and RAS (n = 45) were wild type in every specimen with adequate DNA for analysis." - pmids: - - "19012001" - - text: DGKeta acts as a novel critical regulatory component of the Ras/B-Raf/C-Raf/MEK/ERK signaling cascade via a previously unidentified mechanism. - pmids: - - "19710016" - - text: This article focuses on reviewing the impact of the BRAFV600E mutation in the tumorigenesis of Papillary thyroid carcinoma - pmids: - - "19724843" - - text: "a dual mechanism that affects the Sprouty2/B-Raf interaction: Sprouty phosphorylation and B-Raf conformation" - pmids: - - "19690147" - - text: Papillary carcinomas of the thyroid with papillary growth and areas of follicular growth have a high frequency of BRAF mutations. - pmids: - - "19738460" - - text: "oncogenic properties of KRAS and BRAF but not NRAS, HRAS, and PIK3CA contribute to the tumorigenesis of periampullary and ampullary tumors" - pmids: - - "19440799" - - text: Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence is reported. - pmids: - - "19416762" - - text: The polyclonality of BRAF mutations in acquired melanocytic nevi suggests that mutation of BRAF may not be an initial event in melanocyte transformation. - pmids: - - "19752400" - - text: Mutations in BRAF protein is associated with Colorectal Carcinoma. - pmids: - - "19679059" - - text: simultaneous depletion of both MITF and BRAF(V600E) significantly inhibited melanoma growth even for the melanoma cell lines resistant to MITF depletion - pmids: - - "19659611" - - text: BRAF mutations represent an alternative molecular pathway in the early tumorigenesis of a subset of KIT/PDGFRA wild-type GISTs and are per se not associated with a high risk of malignancy. - pmids: - - "19561230" - - text: Reverse transcription polymerase chain reaction-based sequencing revealed a fusion product between KIAA1549 and BRAF in pediatric low-grade astrocytomas - pmids: - - "19016743" - - text: "Results suggest that the mutations of EGFR, KRAS, BRAF between primary tumors and corresponding lymph node metastases should be considered whenever mutations are used for the selection of patients for EGFR-directed tyrosine kinase inhibitor therapy." - pmids: - - "19584155" - - text: data confirm that KRAS and BRAF mutations do occur in the same cell and that BRAF V600E mutation is associated with CIMP+ status. - pmids: - - "19474002" - - text: BRAF V600E mutation analysis can significantly improve FNAB diagnostic accuracy. - pmids: - - "19574281" - - text: Sorafenib inhibits NSCLC cell growth by targeting B-RAF in cells with wild-type KRAS and C-RAF in those with mutant KRAS. - pmids: - - "19638574" - - text: strong inter-relation between DR4 AND DR5 overexpression and presence of oncogenic KRAS/ BRAF mutations in colon cancer. - pmids: - - "19637313" - - text: Observational study of gene-disease association and DATA ERROR. (HuGE Navigator) - pmids: - - "19669908" - - text: "Expression levels of fibronectin, vimentin and CITED1 were positively correlated with those of BRAFV600E, suggesting pathophysiological links between activated BRAF and overexpression of these genes." - pmids: - - "19194051" - - text: study concludes that a BRAF mutation is a negative prognostic marker in patients with metastatic colorectal cancer - pmids: - - "19571295" - - text: Assessing KRAS and BRAF mutations might help optimising the selection of the candidate metastatic colorectal cancer patients to receive anti-EGFR moAbs. - pmids: - - "19603018" - - text: "BRAF(V600E)'alone' does not represent a marker for poor outcome" - pmids: - - "18070147" - - text: "Mutations in BRAF were found 10% patients in the low-grade carcinoma group, however, they were not found in the high-grade carcinoma group. KRAS and BRAF mutations were mutually exclusive, and both mutations were observed in 40%." - pmids: - - "19430562" - - text: "MLH1-hypermethylated tumors harbor fewer APC and KRAS mutations and more BRAF mutations, suggesting that they develop distinctly from an MGMT methylator pathway." - pmids: - - "19164452" - - text: BRAF V600E mutation is not the target gene for abnormal DNA mismatch repair in patients with sporadic endometrial cancer. - pmids: - - "19424571" - - text: Pilocytic astrocytomas had BRAF fusions in 70% of cases but not IDH1 or IDH2 mutations. Diffuse astrocytomas had IDH1 mutations in 76% of cases but not IDH2 mutations or BRAF fusions. Analysis of BRAF and IDH1 separates pilocytic from diffuse astrocytoma. - pmids: - - "19543740" - - text: BRAF mutations may not play an important role in the oncogenesis or therapy of prostate adenocarcinoma - pmids: - - "18987552" - - text: "The RAS/RAF/MEK/ERK signaling pathway has emerged as a major player in the induction and maintenance of melanoma, particularly the protein kinase BRAF, mutated in approximately 44% of melanoma cases. Review." - pmids: - - "19464601" - - text: BRAF (P=0.01) mutations predicted reduced progress free survival in response to cetuximab salvage therapy in patients with metastatic colorectal cancer . - pmids: - - "19603024" - - text: "Investigated BRAF mutations in 30 bladder tumors. Detected two tumor specimens bearing two different mutations, both of which were found in exon 15. One sample showed the T1799A (V600E) and the other the G1798T (V600L) mutation." - pmids: - - "19404918" - - text: There is a higher frequency of the BRAF(V600E) mutation in papillary thyroid carcinomas than in normal thyroid tissue. - pmids: - - "18710471" - - text: BRAF V600E mutation was significantly found in papillary thyroid carcinoma. - pmids: - - "19370505" - - text: mismatch repair deficiency is not a crucial event for BRAF mutation in melanocytic tumors - pmids: - - "19461239" - - text: "B-RAF mutation was found to be significantly higher in papillary carcinomas when compared to follicular variant of papillary thyroid carcinomas (55.6% vs 14.3%, P = 0.05)." - pmids: - - "19393416" - - text: "BRAF(V600E) is associated some of the aggressive clinicopathological features of papillary thyroid carcinoma including younger age at diagnosis, larger tumor size, and classic histological type, as well as also extrathyroidal invasion." - pmids: - - "19355825" - - text: BRAF and RET/PTC dual mutations are associated with recurrent papillary thyroid carcinoma - pmids: - - "19147753" - - text: Targeting NRAS alone or both BRAF and CRAF in combination or both BRAF and PIK3CA together showed delay in tumor growth. - pmids: - - "19492075" - - text: BRAF mutated tumors occurred with a much greater frequency in proximal colon tumors than in either distal colon or rectal tumors - pmids: - - "19571709" - - text: "Findings provide evidence for a wide phenotypic diversity associated with mutations affecting BRAF, and occurrence of a clinical continuum associated with these molecular lesions." - pmids: - - "19206169" - - text: The murine model of mutant BRAF-induced melanoma formation provides an important tool for identifying further genetic alterations that cooperates with BRAF and that may be useful in enhancing susceptibility to BRAF-targeted therapeutics in melanoma. - pmids: - - "19398955" - - text: "In BRAF mutated colorectal carcinoma cells quercetin, luteolin and ursolic acid decreased Akt phosphorylation" - pmids: - - "19344998" - - text: "BRAFT1799A mutation or RET/PTC rearrangement, mainly corresponding to follicular variants, maintain a thyroid differentiation expression level close to that of normal tissue." - pmids: - - "19208736" - - text: Mutation in BRAF is associated with adrenocortical carcinomas. - pmids: - - "19190079" - - text: "If BRAF is mutated in the primary thyroid neoplasm, it is likely that the metastases will harbor the defect." - pmids: - - "19487299" - - text: "Report efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability." - pmids: - - "19424639" - - text: Sessile serrated adenomas are encountered commonly in routine endoscopy practice and the histological diagnosis correlates strongly with the presence of BRAF mutation. - pmids: - - "19126563" - - text: a subpopulation of melanocytes possesses the ability to survive BRAF(V600E)-induced senescence - pmids: - - "19389934" - - text: NRAS and BRAF mutations increase from the radial to the vertical growth phase in cutaneous melanoma - pmids: - - "19037234" - - text: Targets of phosphorylation by B-Raf signaling are investigated in melanoma. - pmids: - - "19362540" - - text: oncogenic BRAF(V600E) induces the uncoupling of LKB1-AMPKalpha complexes providing at the same time a possible mechanism in cell proliferation that engages cell growth and cell division in response to mitogenic stimuli - pmids: - - "19274086" - - text: "(novel) mutation in the activation kinase domain of the BRAF (A598V), this mutation led to the up-regulation of the BRAF kinase activity and its downstream signaling factors." - pmids: - - "19200582" - - text: Mutation in BRAF is associated with ERK1/2 activation and MEK1/2 inhibitor therapy in colorectal cancer. - pmids: - - "19372556" - - text: "Both BRAF and RKIP expression levels exhibit a decrease from normal skin tissue and actinic keratosis, going to squamous cell carcinoma." - pmids: - - "19342899" - - text: Mutations are absent or rare in the kinase domain of B-RAF in Japanese head and neck squamous cell carcinoma. - pmids: - - "19178815" - - text: "GDC-0879-mediated efficacy was associated strictly with BRAF(V600E) status, MEK inhibition also attenuated proliferation and tumor growth of cell lines expressing wild-type BRAF." - pmids: - - "19276360" - - text: REVIEW summarizes the literature on NRAS and BRAF activating mutations in melanoma tumors with respect to available data on histogenetic classification as well as body site and presumed UV-exposure. - pmids: - - "19383313" - - text: "The genes whose expression is associated with BRAF mutations are not simply restricted to the MAPK/ERK signaling but also converge to enhanced immune responsiveness, cell motility and melanosomes processing involved in the adaptative UV response" - pmids: - - "19383316" - - text: The T1799A BRAF mutation does not appear to play a role in the tumorigenesis of the cribriform-morular variant of papillary carcinoma. - pmids: - - "19415957" - - text: Observational study of gene-disease association and genetic testing. (HuGE Navigator) - pmids: - - "20501689" - - "19414674" - - text: a correlation between a gene mutation--BRAF V600E--and cisplatin resistance in nonseminomatous germ cell tumors. - pmids: - - "19289622" - - text: "Our data provide evidence that PIK3CA and BRAF contribute to the tumorigenesis of IPMN/IPMC, but at a lower frequency than KRAS." - pmids: - - "18343945" - - text: "ERK activation was induced by PKD2 overexpression via B-Raf signaling, providing a possible molecular mechanism of cystogenesis" - pmids: - - "19098310" - - text: the presence of the braf protein mutation increases prohibitin promoter activity and therefore potentially mediates effects of this mutation on the behavior of BRAF protein - pmids: - - "19207009" - - text: BRAF(V600E) mutation is assocciated with aggressive papillary thyroid microcarcinoma. - pmids: - - "19034577" - - text: "K-ras, EGFR, and BRAF mutations are disproportionately seen in adenocarcinomas of lung with a dominant micropapillary growth pattern compared with conventional adenocarcinoma in our institutional experience." - pmids: - - "19369630" - - text: BRAF* melanomas appear to be associated with a specific profile of DNA copy number aberrations that is distinct from those found in NRAS* and BRAF/NRAS(wt/wt) tumors. - pmids: - - "19226609" - - text: "BRAF(V600E) mutation may play some roles in local carcinoma development, there is no evidence that BRAF(V600E) mutation significantly reflects the aggressive characteristics and poor prognosis of patients with papillary carcinoma in Japan." - pmids: - - "18840924" - - text: "BRAF V600E appeared to be the most commonly mutated gene in both the melanocytic aggregate (seven of 18, 39%) and the melanoma (four of 18, 22%)" - pmids: - - "18945298" - - text: G12D mutation may be more likely selected in a BRAF mutated context - pmids: - - "19087308" - - text: Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. - pmids: - - "19190129" - - text: "In Korean patients with papillary thyroid carcinoma, the BRAFV600E mutation is associated with a lower frequency of background Hashimoto thyroiditis and a high frequency of lymph node metastasis." - pmids: - - "19014278" - - text: "Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "19884549" - - "19255327" - - text: influence of B-RAF-specific RNA interference on the proliferation and apoptosis of gastric cancer BGC823 cell line - pmids: - - "17548320" - - text: study identified a group of melanomas with low-activity BRAF mutations (G469E- and D594G) that are reliant upon CRAF-mediated survival activity - pmids: - - "18794803" - - text: study concludes a single endogenous BRAF(V600E) allele is sufficient to repress BIM & prevent death from growth factor withdrawal; colorectal cancer cells with V600E mutations are addicted to the ERK1/2 pathway for repression of BIM - pmids: - - "18806830" - - text: "Genetic extinction of BRAF(V600E) in established prostate tumors did not lead to tumor regression, indicating that while sufficient to initiate development of invasive prostate adenocarcinoma, BRAF(V600E) is not required for its maintenance." - pmids: - - "19079609" - - text: "N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression" - pmids: - - "18668139" - - text: BRAF pseudogene activation may play a role in thyroid tumor development. - pmids: - - "19107232" - - text: hyperactivation of the MAPK pathway following activation of an inducible form of oncogenic C-Raf induces a senescence-like proliferation arrest in B-Raf mutant melanoma cells - pmids: - - "18650848" - - text: Hereditary pancreatitis patients with PRSS1 mutations also had mutations in BRAF and KRAS2. - pmids: - - "18946221" - - text: BRAF mutation is associated with the CpG island methylator phenotype in colorectal cancer from young patients - pmids: - - "18778891" - - text: "The frequencies of LOHs of 17q21, 17p13, 10q23, and 22q13 were higher in tumors with lymph node metastasis, suggesting that these LOHs may be important in increased lymph node metastasis." - pmids: - - "18628356" - - text: "CIMP-high appears to be an independent predictor of a low colon cancer-specific mortality, while BRAF mutation is associated with a high colon cancer-specific mortality." - pmids: - - "18832519" - - text: Observational study and meta-analysis of gene-disease association. (HuGE Navigator) - pmids: - - "19064572" - - text: "Examined associations between BRAF mutations, morphology, and apoptosis in early colorectal cancer." - pmids: - - "17924122" - - text: Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. - pmids: - - "19001320" - - text: BRAF-V600E mutation is uncommon in endocrine tumors other than thyroid papillary carcinomas - pmids: - - "19003996" - - text: 8% of sporadic colorectal tumors in this study harbor mutation in the BRAF gene. - pmids: - - "18992635" - - text: ovarian cancer patients with KRAS or BRAF mutations may benefit from CI-1040 treatment - pmids: - - "19018267" - - text: Identification and functional characterization of a novel T599I-VKSR(600-603)del BRAF mutation in a patient with follicular variant papillary thyroid carcinoma. - pmids: - - "18697864" - - text: study shows high expression of p16(INK4a) or the absence of activated B-RAF correlates with in vivo response of melanoma to cytotoxic drugs - pmids: - - "18953432" - - text: "presence of the BRAF (V600E) mutation,the incidence of microsatellite instability high colorectal cancer in populations based study." - pmids: - - "18718023" - - text: These data suggest that regulation of BIM expression by BRAF-->MEK-->ERK signaling is one mechanism by which oncogenic BRAF(V600E) can influence the aberrant physiology of melanoma cells. - pmids: - - "18715233" - - text: MLH1 methylation and BRAF mutations are associated with microsatellite unstable colon tumors - pmids: - - "18615680" - - text: V600E BRAF mutation is associated with imatinib-resistant gastrointestinal stromal tumors - pmids: - - "18615679" - - text: The BRAF(V600E) mutation was demonstrated to be a poor prognostic factor independent from other clinicopathological features. - pmids: - - "18682506" - - text: the T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous. - pmids: - - "18985043" - - text: "rearrangement, which was not observed in a series of 244 higher-grade astrocytomas, results in an in-frame fusion gene incorporating the kinase domain of the BRAF oncogene" - pmids: - - "18974108" - - text: "With at least 3 markers methylated, new CIMP-positive colorectal cancers were closely associated with proximal tumor location, low frequency of KRAS mutation, and high frequency of BRAF mutation." - pmids: - - "18834226" - - text: BRAF mutation occurs independently of CpG island methylator phenotype and MSI in all types of serrated polyps and may serve as a marker of serrated pathway of colorectal carcinogenesis - pmids: - - "18798261" - - text: These data implicates a mitotic role for B-Raf in regulating spindle formation and the spindle checkpoint in human somatic cells. - pmids: - - "18787396" - - text: "BRAF, KRAS and PIK3CA mutations occur prior to malignant transformation demonstrating that these oncogenic alterations are primary genetic events in colorectal carcinogenesis" - pmids: - - "18782444" - - text: "People of southern European origin had lower risk of colorectal cancers with CIMP and BRAF mutation than people of Anglo-Celtic origin, which may in part be due to genetic factors that are less common in people of southern European origin." - pmids: - - "18628431" - - text: "Shorter overall survival in primary melanoma was associated with the presence of ulceration and BRAF exon 15 mutations, as well as the absence of nuclear activation of Akt and of cytoplasmic activation of ERK." - pmids: - - "18509361" - - text: study revealed a significant correlation of BRAFV600E mutation with a lower expression of both sodium iodide symporter and thyroperoxidase in papillary thyroid cancer - pmids: - - "18509003" - - text: This study confirms that the known MC1R-melanoma risk association is confined to subjects whose melanomas harbor BRAF mutations. - pmids: - - "18368129" - - text: Follicular histotypes of oncocytic thyroid carcinomas do not carry BRAF mutations - pmids: - - "18235983" - - text: focal gains at chromosome 7q34 and increased BRAF-MEK-ERK signaling are common findings in sporadic pilocytic astrocytomas - pmids: - - "18716556" - - text: Rac1b and B-Raf(V600E) functionally cooperate to sustain colorectal cell viability and suggest they constitute an alternative survival pathway to oncogenic K-Ras - pmids: - - "18602919" - - text: KRAS and BRAF mutations can impair response to anti-EGFR therapy for colorectal neoplasms - pmids: - - "18757341" - - text: lung adenocarcinoma of mixed type with a high incidence of papillary and lepidic growth may be worthwhile investigating for BRAF-V600E mutation as more genetically oriented drug therapies emerge. - pmids: - - "18636014" - - text: BRAF regulates melanoma proliferation through the lineage specific factor MITF - pmids: - - "18628967" - - text: "CST6, CXCL14, DHRS3, and SPP1 are regulated by BRAF signaling and may play a role in papillary thyroid carcinoma pathogenesis" - pmids: - - "18676742" - - text: oncogenic BRAF inhibition can have a different effect on cell fate depending on the cellular type - pmids: - - "18458053" - - text: aberrant methylation of the hMLH1 gene may play a role in BRAF mutation-promoted thyroid tumorigenesis - pmids: - - "18470905" - - text: a significant relationship in overall survival in colon cancer patients with defective DNA mismatch repair and the presence of a specific mutation in BRAF (V600E) - pmids: - - "18519771" - - text: Mitogen-activated protein kinase (MAPK) activity is subject to regulation even in BRAF/NRAS mutant melanoma cells and that high MAPK pathway signaling may be important only in distinct subsets of tumor cells. - pmids: - - "18323787" - - text: Presence of BRAF V600E in very early stages of papillary thyroid carcinoma. - pmids: - - "17542667" - - text: "in melanocytic lesions, BRAF(V600E) mutation can affect a subset of the cells and is associated with the type and quantity of sun exposure" - pmids: - - "18408659" - - text: study describes the biochemical characterization of novel BRAF and MEK germline mutations in cardio-facio-cutaneous syndrome - pmids: - - "18413255" - - text: co-overexpression of KIT/CDK4 is a potential mechanism of oncogenic transformation in some BRAF/NRAS wild-type melanomas - pmids: - - "18632627" - - text: BRAF and MEK1/2 mutations may be more common than anticipated in ovarian cancer which could have important implications for treatment of patients with this disease and suggests potential new therapeutic avenues - pmids: - - "18060073" - - text: "BRAF mutation testing of papillary thyroid carcinoma might improve the diagnosis, prognostic stratification and treatment of these tumors." - pmids: - - "18337114" - - text: "Compared to melanomas without BRAF mutations, melanomas with BRAF mutations showed statistically significantly higher degrees of intraepidermal scatter of melanocytes, and a higher proportion of melanocytes arranged in nests." - pmids: - - "18532874" - - text: "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "20413299" - - "20234366" - - "19884556" - - "19738388" - - "19603024" - - "19603018" - - "19289622" - - "19018267" - - "19001320" - - "18676756" - - "18669866" - - "18621636" - - text: "is commonly activated by somatic point mutation, it may provide possible diagnostic and therapeutic targets in human malignant tumors." - pmids: - - "18397470" - - text: "RKIP could play an important role in the down-regulation of wild-type BRAF, serving thus as an endogenous inhibitor of the MAPK pathway in nasal polyps and their adjacent turbinate mucosa." - pmids: - - "18329792" - - text: BRAF mutation is associated with disease stabilization in melanoma - pmids: - - "18375819" - - text: "Detecting BRAF mutation by pyrosequencing is more sensitive, faster, and less expensive than direct DNA sequencing." - pmids: - - "18382358" - - text: Thyroid cancers with BRAF mutation are preferentially sensitive to MEK inhibitors. - pmids: - - "18381570" - - text: CpG island methylator phenotype in colorectal neoplasms may result from activating mutations in either BRAF or KRAS. - pmids: - - "18435933" - - text: Results implicate aberrant activation of the MAPK pathway due to gene duplication or mutation of BRAF as a molecular mechanism of pathogenesis in low-grade astrocytomas and suggest inhibition of the MAPK pathway as a potential treatment. - pmids: - - "18398503" - - text: Mutant B-RAF mediates resistance to anoikis via Bad and Bim. - pmids: - - "18246127" - - text: BRAF mutations in colorectal cancer microsatellite-stable cases are associated with high levels of chromosomal instability that are likely responsible for the adverse outcomes in these cases - pmids: - - "18517279" - - text: Akt3 and mutant V600E B-Raf cooperate to promote early melanoma development. - pmids: - - "18451171" - - text: frequency of the occurrence of BRAF mutation and/or RET/PTC in H4-PTEN positive tumors was extremely high (75%) in papillary thyroid carcinoma - pmids: - - "18226854" - - text: B-Raf(V600E) signaling deregulates the mitotic spindle checkpoint through stabilizing Mps1 levels in melanoma cells. - pmids: - - "18071315" - - text: Aberrant BRAF and INK4A functionally interact to promote growth and survival of melanoma cells. - pmids: - - "18402768" - - text: BRAF-V600E mutation is associated with familial non-medullary thyroid carcinoma - pmids: - - "18310288" - - text: BRAF(V600E) mutation is asscoiated with papillary thyroid cancer - pmids: - - "18310287" - - text: BRAF T1799A mutation is associated with aggressive pathological outcomes of papillary thyroid cancer - pmids: - - "18310286" - - text: Important signalling role in T cell development. - pmids: - - "18228248" - - text: BRAF mutation is not associated with cutaneous melanoma - pmids: - - "18227705" - - text: "MSI is rare in UC-related neoplasia as well as non-neoplastic lesions, and does not contribute to the development of dysplasia." - pmids: - - "17454879" - - text: K-RAS and BRAF mutations are a frequent genetic event in our samples of sporadic papillary and medullary thyroid carcinoma. - pmids: - - "18383861" - - text: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) - pmids: - - "20736745" - - "20720566" - - "20702649" - - "20162668" - - "20043015" - - "19765726" - - "19237633" - - "18224685" - - text: "A worse clinical outcome was found for CIMP-high, microsatellite stable colorectal cancer with KRAS/BRAF mutation but not for those lacking KRAS/BRAF mutation." - pmids: - - "18199160" - - text: BRAF mutation represents a novel indicator of the progression and aggressiveness of papillary thyroid cancer (Review) - pmids: - - "17940185" - - text: BRAF provides proliferation and survival signals in MSI colorectal carcinoma cells displaying BRAF(V600E) but not KRAS mutations. - pmids: - - "18098337" - - text: "Observational study of genotype prevalence, gene-disease association, and genetic testing. (HuGE Navigator)" - pmids: - - "17693984" - - text: Meta-analysis of gene-disease association. (HuGE Navigator) - pmids: - - "17520704" - - text: Observational study of genetic testing. (HuGE Navigator) - pmids: - - "20703476" - - "20489114" - - "20098682" - - "20051945" - - "19850689" - - "19026650" - - "18759827" - - "18061181" - - "17312306" - - text: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) - pmids: - - "21048031" - - "20200438" - - "19358278" - - "19351817" - - "17507627" - - "17186541" - - "17148775" - - text: Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) - pmids: - - "16618717" - - text: Observational study of genotype prevalence. (HuGE Navigator) - pmids: - - "16687919" - - "16397024" - - text: Observational study of gene-disease association. (HuGE Navigator) - pmids: - - "21051183" - - "21049459" - - "20979647" - - "20975100" - - "20947270" - - "20945104" - - "20944096" - - "20881644" - - "20860430" - - "20840674" - - "20813562" - - "20802181" - - "20652941" - - "20647301" - - "20645028" - - "20640859" - - "20635392" - - "20631031" - - "20591910" - - "20571907" - - "20570909" - - "20569675" - - "20563851" - - "20543023" - - "20526288" - - "20501503" - - "20496269" - - "20495538" - - "20485284" - - "20473281" - - "20460314" - - "20453000" - - "20444249" - - "20381121" - - "20305537" - - "20303012" - - "20302979" - - "20300843" - - "20187782" - - "20186801" - - "20177422" - - "20118768" - - "20049644" - - "20009493" - - "20008640" - - "19960590" - - "19955937" - - "19935791" - - "19919912" - - "19913317" - - "19908233" - - "19903786" - - "19861964" - - "19826477" - - "19704056" - - "19686742" - - "19679059" - - "19652585" - - "19628078" - - "19626635" - - "19584155" - - "19571295" - - "19561230" - - "19551857" - - "19547661" - - "19504446" - - "19498322" - - "19487299" - - "19430562" - - "19404918" - - "19404844" - - "19393416" - - "19370505" - - "19369630" - - "19355825" - - "19240718" - - "19190129" - - "19190105" - - "19178815" - - "19159571" - - "19152441" - - "19147753" - - "19142971" - - "19133693" - - "19127559" - - "19034577" - - "19033861" - - "19014278" - - "19012001" - - "18992635" - - "18980976" - - "18840924" - - "18794094" - - "18782444" - - "18778891" - - "18757433" - - "18682506" - - "18615680" - - "18615679" - - "18594528" - - "18592405" - - "18383861" - - "18368129" - - "18000091" - - "17785355" - - "17717450" - - "17566669" - - "17487277" - - "17453358" - - "17393356" - - "17309670" - - "17270239" - - "17195912" - - "17159915" - - "16973828" - - "16918957" - - "16728573" - - "16691193" - - "16601293" - - "16487015" - - "16452550" - - "16376942" - - "16354196" - - "16268813" - - "16181547" - - "16181240" - - "16174717" - - "16144912" - - "16143028" - - "16098042" - - "16024606" - - "16015629" - - "15994075" - - "15968271" - - "15904951" - - "15824163" - - text: Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) - pmids: - - "14722037" - - text: BRAF interacts with PLCepsilon1 in nephrotic syndrome type 3. Both proteins are coexpressed and colocalize in developing and mature glomerular podocytes. - pmids: - - "17942568" - - text: "A genome-wide RNA-interference screening to identify genes required for an activated BRAF oncogene to block proliferation of fibroblasts and melanocytes revealed that a IGFBP7, has a central role in BRAF-mediated senescence and apoptosis." - pmids: - - "18267069" - - text: Detection of BRAF improves the diagnosis in fine-needle biopsy with cytological findings suspicious for papillary thyroid carcinoma. - pmids: - - "18045960" - - text: "the results of HRAS, BRAF and MAP2K1/2 mutation screening in a large cohort of patients with CS and CFC" - pmids: - - "18042262" - - text: "Because of the very sensitive pyrophosphorolysis-activated polymerization (PAP)technology, B-RAF mutations were found in cell lines and primary uveal melanomas." - pmids: - - "18172070" - - text: "mutation of N-RAS or B-RAF, signature genetic lesions present in most MMs, potently induced the expression of cell-surface CD200, a repressor of DC function." - pmids: - - "18008004" - - text: MEK inhibition is cytostatic in papillary thyroid cancer and anaplastic thyroid cancer cells bearing a BRAF mutation - pmids: - - "17878251" - - text: "BRAF gene plays a \"gatekeeper\" role but does not act as a predisposition gene in the development of low-grade ovarian serous carcinomas" - pmids: - - "17309670" - - text: "effects of a MEK inhibitor, CI-1040, on thyroid cancer cells, some of which, particularly cell proliferation and tumor growth, seemed to be BRAF mutation or RAS mutation selective" - pmids: - - "17911174" - - text: "BRAF(V600E) mutation detected on fine-needle aspiration biopsy specimens, more than RET/PTC rearrangements, is highly specific for papillary thyroid carcinoma." - pmids: - - "17727338" - - text: "5 unreported mutations (T241P, Q262R, G464R, E501V, N581K) were found in cardio-facio-cutaneous syndrome. A hotspot in exon 6 at Q257 was found." - pmids: - - "17704260" - - text: diffuse expression of wild-type and/or mutant B-Raf may be involved in the tumorigenic process - pmids: - - "17714762" - - text: There was no coexistence of BRAF (V600E) mutation in papillary thyroid carcinoma. - pmids: - - "17693984" - - text: "The BRAF mutation is common in melanomas, but variation in rates across melanoma subtypes points to a complex interplay between BRAF activation and other factors (eg, sun exposure)." - pmids: - - "18032947" - - text: BRAF V600E mutation is associated with high-risk papillary thyroid carcinoma - pmids: - - "17785355" - - text: no BRAF mutations identified in 65 screened JMML patients; this gene is unlikely to play a role in the pathogenesis of JMML. - pmids: - - "18024410" - - text: BRAF mutation is associated as early as the hyperplastic polyp stage followed by microsatellite instability at the carcinoma stage - pmids: - - "17914558" - - text: BRAF V600E mutation is primarily present in conventional papillary thyroid cancer; it is associated with an aggressive tumor phenotype and higher risk of recurrent and persistent disease in patients with conventional papillary thyroid cancer - pmids: - - "17717450" - - text: "In this small study, the T1799A BRAF mutation was identified in almost half of the iris melanoma tissues samples examined. This finding suggests that there may be genetic as well as clinical differences between iris and posterior uveal melanomas." - pmids: - - "17962436" - - text: BRAFV600E mutations were found in 41.2% of the papillary thyroid carcinomas - pmids: - - "17786355" - - text: These results suggest that papillary thyroid carcinomas with BRAF (V600E) mutation are more aggressive than those with wildtype BRAF. - pmids: - - "17972530" - - text: B-RAF has been identified as the most mutated gene in invasive cells and therefore an attractive therapeutic target in melanoma. - pmids: - - "16912199" - - text: PPARbeta/delta has a role in growth of RAF-induced lung adenomas - pmids: - - "17671688" - - text: "data showed differences in gene expression between nevi with and without the V600E BRAF mutation. Moreover, nevi with mutations showed over-expression of genes involved in melanocytic senescence and cell cycle inhibition" - pmids: - - "17696195" - - text: We conclude that screening for BRAF 15 exon mutation is an efficient tool in the diagnostic strategy for HNPCC - pmids: - - "17566669" - - text: c-kit expression is not alternative to BRAF and/or KRAS activation. - pmids: - - "17487504" - - text: "KLF6 and p53 mutations are involved in the development of nonpolypoid colorectal carcinoma, whereas K-ras and B-raf mutations are not" - pmids: - - "17663506" - - text: "Normally, BRAF alone is responsible for signaling to MEK. However, when RAS is mutated in melanoma, melanocytes switch their signaling from BRAF to CRAF." - pmids: - - "17018604" - - text: "data indicate that both early-life UV exposure and nevus propensity contribute to occurrence of BRAF+ melanoma, whereas nevus propensity and later-life sun exposure influence the occurrence of NRAS+ melanoma" - pmids: - - "17507627" - - text: The heterogeneous distribution of BRAF mutations suggests that discrete tumor foci in multifocal PTC may occur as independent tumors. - pmids: - - "17535994" - - text: "In contrast to C-RAF that requires farnesylated H-Ras, cytosolic B-RAF associates effectively and with significantly higher affinity with both farnesylated and nonfarnesylated H-Ras." - pmids: - - "17635919" - - text: T1790A BRAF mutation (L597Q) in childhood acute lymphoblastic leukemia is a functional oncogene - pmids: - - "17525723" - - text: prevalence of BRAF mutation and RET/PTC were determined in diffuse sclerosing variant of papillary thyroid carcinoma; none of the cases showed a BRAF mutation - pmids: - - "17464312" - - text: RNA interference and pharmacologic approaches were used to assess the role of B-Raf activation in the growth of human melanomas and additionally determined if a similar role for mutant B-Raf is seen for colorectal carcinoma cell lines. - pmids: - - "17699719" - - text: BRAF V600E mutation in papillary carcinoma of the thyroid may facilitate tumor cell growth and progression once seeded in the lymph nodes. - pmids: - - "17685465" - - text: Develompment of malignant strumo ovarii with papillary thyroid carcinoma features is associated with BRAF mutations. - pmids: - - "17721188" - - text: RASSF1A methylation was observed in a high frequency in endometrioid endometrial carcinoma whereas K-ras and B-raf mutations were observed in a low frequency - pmids: - - "17170014" - - text: "among 23 melanomas located at body sites with chronic UV exposure, only a single tumour harboured the B-raf V599E mutation which was a significantly lower frequency in comparison to melanomas from sun-protected body sites" - pmids: - - "16773193" - - text: frequency of the BRAF mutation and the associations between BRAF mutation and clinicopathologic parameters in papillary thyroid carcinoma were evaluated by meta-analysis - pmids: - - "17520704" - - text: Molecular diagnosis and careful observations should be considered in children with Cardio-facio-cutaneous syndrome because they have germline mutations in BRAF and might develop malignancy. - pmids: - - "17483702" - - text: BRAF V600E mutation in PTCs is associated with reduced expression of key genes involved in iodine metabolism - pmids: - - "17488796" - - text: These data suggest that MITF is an anti-proliferation factor that is down-regulated by B-RAF signaling and that this is a crucial event for the progression of melanomas that harbor oncogenic B-RAF. - pmids: - - "16129781" - - text: Mutations of BRAF are associated with extensive hMLH1 promoter methylation in sporadic colorectal carcinomas - pmids: - - "14639609" - - text: BRAF(V600E) mutation is identified in a subset of cutaneous metastases from papillary thyroid carcinomas - pmids: - - "17387744" - - text: BRAF mutations are restricted to papillary carcinomas and poorly differentiated and anaplastic carcinomas arising from papillary carcinomas - pmids: - - "14602780" - - text: 3 cell lines derived from human choroidal melanoma express B-Raf containing the V599E mutation and showed a 10-fold increase in endogenous B-RafV599E kinase activity and a constitutive activation of the MEK/ERK pathway that is independent of Ras - pmids: - - "12917419" - - text: High prevalence of BRAF mutations in thyroid cancer is genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. - pmids: - - "12670889" - - text: BRAF V600E mutation was occasionally observed in anaplastic carcinomas with papillary carcinoma. - pmids: - - "17453004" - - text: Our findings of a high frequency of BRAF mutations at codon 599 in benign melanocytic lesions of the skin indicate that this mutation is not sufficient by itself for malignant transformation. - pmids: - - "14501284" - - text: "B-RAF (V600E) was confirmed to be associated with the papillary growth pattern, but not with poorer differentiated papillary thyroid carcinoma variants." - pmids: - - "16728573" - - text: "Copy gain of PDGFB occurs in a subset of tumors showing no evidence of mutated BRAF or rearranged ret, suggesting that copy gain of PDGFB may underlie the increased expression of platelet-derived growth factor described recently in the literature." - pmids: - - "17227125" - - text: The aim of this study was to identify the effect that BRAF oncogene has on post-transcriptional regulation in papillary thyroid carcinoma by using microRNA analysis. - pmids: - - "17355635" - - text: "gene is mutated in skin melanoma, but not in uveal melanomas" - pmids: - - "12778069" - - text: BRAF mutations are as uncommon as KRAS mutations in prostate adenocarcinoma - pmids: - - "16721785" - - text: BRAF mutation is associated with thyroid carcinogenesis - pmids: - - "17186541" - - text: Both BRAF and FBXW7 mutations functionally activate kinase effectors important in pancreatic cancer and extend potential options for therapeutic targeting of kinases in treatment of phenotypically distinct pancreatic adenocarcinoma subsets. - pmids: - - "14507635" - - text: Missense mutation is marker of colonic but not gastric cancer. - pmids: - - "14668801" - - text: BRAF T1976A mutation is present at high frequency in benign naevi such as Spitz and Reed. - pmids: - - "16987295" - - text: These studies identify isoprenylcysteine carboxyl methyltransferase as a potential target for reducing the growth of K-Ras- and B-Raf-induced malignancies. - pmids: - - "14966563" - - text: "results demonstrate that the mutational status of BRAF and KRAS is distinctly different among histologic types of ovarian serous carcinoma, occurring most frequently in invasive micropapillary serous carcinomas and its precursors, serous borderline tumors" - pmids: - - "12644542" - - text: The finding of tandem mutations in thin melanomas makes it more likely that they arise as a simultaneous rather than sequential event. - pmids: - - "15140228" - - text: determination of mutation specific gene expression profiles in papillary thyroid carcinoma - pmids: - - "16007166" - - text: BRAF mutation does not seem to be sufficient to produce MAPK activation in melanocytic nevi. - pmids: - - "16417232" - - text: Uceal melanomas arise independent of oncogenic BRAF and NRAS mutations. - pmids: - - "14522897" - - text: activation of this gene may be one of the early events in the pathogenesis of some melanomas. - pmids: - - "15191558" - - text: Mutations of BRAF or KRAS oncogenes are early events in the serrated polyp neoplasia pathway. CpG island methylation plays a role in serrated polyp progression to colorectal carcinoma. - pmids: - - "15489648" - - text: B-raf V599E and V599K oncogenic mutations are likely to affect melanocyte-specific pathways controlling proliferation and differentiation - pmids: - - "15935100" - - text: Mutations are not detectable in plasma cell leukemia and multiple myeloma. - pmids: - - "12931219" - - text: "findings show that MC1R variants are strongly associated with BRAF mutations in non-chronic sun-induced damage melanomas; in this subtype, risk for melanoma associated with MC1R is due to increase in risk of developing melanomas with BRAF mutations" - pmids: - - "16809487" - - text: Expression of p27Kip1 in melanoma is regulated by B-RAF at the mRNA level and via B-RAF control of Cks1/Skp2-mediated proteolysis. - pmids: - - "16924241" - - text: BRAF(V599E) mutation is seven times higher in lesions with structural changes and 13 times higher in growing lesions as compared with lesions without changes - pmids: - - "15373778" - - text: Single-cell clones with efficient knockdown of (V 600 E)B-RAF could be propagated in the presence of basic fibroblast growth factor but underwent apoptosis or senescence-like growth arrest upon withdrawal of this growth factor - pmids: - - "16007203" - - text: "mutational analysis of KRAS, BRAF, and MAP2K1/2 in 56 patients with CFC syndrome; comparison of the genotype-phenotype correlation of CFC with that of Costello syndrome suggest a significant clinical overlap but not genotype overlap." - pmids: - - "17366577" - - text: "BRAF is occasionally mutated in NHL, and BRAF mutation may contribute to tumor development in some NHLs" - pmids: - - "14612909" - - text: "sustained BRAF(V600E) expression in human melanocytes induces cell cycle arrest, which is accompanied by the induction of both p16(INK4a) and senescence-associated acidic beta-galactosidase (SA-beta-Gal) activity, a commonly used senescence marker" - pmids: - - "16079850" - - text: BRAF mutation in melanoma is most likely to occur prior to the development of metastatic disease - pmids: - - "16096377" - - text: Activating BRAF mutation is associated with papillary thyroid carcinoma - pmids: - - "17044028" - - text: B-raf is involved in adhesion-independent ERK1/2 signaling in melanocytes - pmids: - - "12821662" - - text: Mutations in BRAF gene is associated with malignant melanomas - pmids: - - "14961576" - - text: "in contrast to cutaneous melanoma, BRAF does not appear to be involved in the pathogenesis of uveal melanoma" - pmids: - - "15179189" - - text: B-Raf kinase activity regulation by tuberin and Rheb is mammalian target of rapamycin (mTOR)-independent - pmids: - - "15150271" - - text: mutated in childhood acute lymphoblastic leukemia. - pmids: - - "15538400" - - text: a novel Ras-independent ERK1/2 activation system in which p110gamma/Raf-1/MEK1/2 and PKA/B-Raf/MEK1/2 cooperate to activate ERK1/2. - pmids: - - "15653554" - - text: "AKAP9-BRAF fusion was preferentially found in radiation-induced papillary carcinomas developing after a short latency, whereas BRAF point mutations were absent in this group" - pmids: - - "15630448" - - text: activating BRAF mutations may be an important event in the development of papillary thyroid cancer - pmids: - - "12697856" - - text: BRAF mutations were seen in stomach neoplasms. - pmids: - - "14534542" - - text: "In patients with papillary thyroid cancer, BRAF mutation is associated with poorer clinicopathological outcomes and independently predicts recurrence." - pmids: - - "16174717" - - text: copy number gain may represent another mechanism of BRAF activation in thyroid tumors - pmids: - - "16199894" - - text: B-Raf has a role in extracellular signal-regulated kinase (ERK) signaling in T cells and prevents antigen-presenting cell-induced anergy - pmids: - - "12855697" - - text: "13 germline BRAF variants, 4 of which were silent mutations in coding regions & 9 nucleotide substitutions in introns, were found in melanoma patients and melanoma family, but none appeared statistically likely to be a melanoma susceptibility gene." - pmids: - - "12810628" - - text: "Although BRAF and NRAS mutations are likely to be important for the initiation and maintenance of some melanomas, other factors might be more significant for proliferation and prognosis in subgroups of aggressive melanoma" - pmids: - - "16098042" - - text: Merlin and MLK3 can interact in situ and merlin can disrupt the interactions between B-Raf and Raf-1 or those between MLK3 and either B-Raf or Raf-1. - pmids: - - "16537381" - - text: "A subset of Spitz nevi, some with atypical histologic features, possess BRAF mutations. The BRAF mutational status does not separate all Spitz nevi from spitzoid melanomas and non-Spitz types of melanocytic proliferations, contrary to previous reports." - pmids: - - "16799476" - - text: "CpG island methylator phenotype-positive colorectal tumors represent a distinct subset, encompassing almost all cases of tumors with BRAF mutation" - pmids: - - "16804544" - - text: phosphorylation on both S365 and S429 participate in the differential regulation of B-Raf isoforms through distinct mechanisms - pmids: - - "17074813" - - text: "BRAF mutation remained a significant prognostic factor for lymph node metastasis (odds ratio = 10.8, 95% confidence interval, 3.5-34.0, P < 0.0001)." - pmids: - - "17060774" - - text: Absence of association between BRAF mutation and activation of MAPK pathway in papillary thyroid carcinoma suggests the presence of mechanisms that downregulate MAPK activation. - pmids: - - "17199737" - - text: "finding of a strong association between BRAF mutations and serrated histology in hyperplastic aberrant crypt foci supports the idea that these lesions are an early, sentinel, or a potentially initiating step on the serrated pathway to colorectal carcinoma" - pmids: - - "17440063" - - text: "The BRAF(V599E) mutation appears to be an alternative event to RET/PTC rearrangement rather than to RAS mutations, which are rare in PTC. BRAF(V599E) may represent an alternative pathway to oncogenic MAPK activation in PTCs without RET/PTC activation." - pmids: - - "12881714" - - text: mutation of BRAF gene could be a potentially useful marker of prognosis of patients with advanced thyroid cancers - pmids: - - "12970315" - - text: NRAS and BRAF mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression - pmids: - - "14695152" - - text: "BRAF mutations, which are present in a variety of other human cancers, do not seem to be involved in gastric cancer development" - pmids: - - "14513361" - - text: Radiation-induced tumors have a low prevalence of BRAF point mutations and high prevalence of RET/PTC rearrangements - pmids: - - "15145515" - - text: Our data indicate that BRAF gene mutations are rare to absent events in uveal melanoma of humans. - pmids: - - "14691295" - - text: The lack or low prevalence of BRAF mutation in other thyroid neoplasms is consistent with the notion that other previously defined genetic alterations on the same signaling pathway are sufficient to cause tumorigenesis in most thyroid neoplasms. - pmids: - - "15001635" - - text: we found 19 cases (38%) to harbor somatic B-raf exon 15 mutations. - pmids: - - "15331929" - - text: autoinhibition was negatively regulated by acidic substitutions at phosphorylation sites within the activation loop - pmids: - - "15710605" - - text: "The oncogenic B-raf mutations V599E and V599K, as early events in melanocyte transformation, persist throughout metastasis with important prognostic implications." - pmids: - - "16179870" - - text: "As the BRAF oncogene is frequently found to be mutated in human cutaneous melanomas, it may constitute a risk factor for melanoma formation within CMN and DMN." - pmids: - - "16179867" - - text: Mutation and elevated expression of BRAF is associated with the development of testicular germ cell tumors - pmids: - - "16354586" - - text: "aberrant B-Raf activity in angiomyolipomas leads to abnormal cellular differentiation and migration [review]" - pmids: - - "16382052" - - text: BRAF V600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/I- targeting to the membrane - pmids: - - "16601293" - - text: BRAF mutation is associated with melanoma and melanocytic nevi. - pmids: - - "16845322" - - text: Rheb has a central role in the regulation of the Ras/B-Raf/C-Raf/MEK signaling network - pmids: - - "16803888" - - text: findings show that RASSF1A hypermethylation and KRAS mutations and BRAF mutations are inversely correlated and play an important role in the development of cervical adenocarcinomas - pmids: - - "17360030" - - text: "low rate of RAS-RAF mutations (2/22, 9.1%) observed in Spitz melanocytic nevi suggests that these lesions harbor as yet undetected activating mutations in other components of the RAS-RAF-MEK-ERK-MAPK pathway" - pmids: - - "17518771" - - text: The V599E BRAF mutation appears to be a somatic mutation associated with melanoma development and/or progression in a proportion of affected individuals. - pmids: - - "12619120" - - text: BRAF mutation may be acquired during development of metastasis but is not a significant factor for primary melanoma development and disease outcome. - pmids: - - "15014028" - - text: New enriched PCR-RFLP assay for detecting mutations of BRAF codon 599 mutation in pleural mesotheliomas. - pmids: - - "14719068" - - text: BRAF mutations are frequently present in sporadic colorectal cancer with methylated hMLH1 - pmids: - - "14734469" - - text: "Data provide evidence that B-Raf is a positive regulator of T cell receptor-mediated sustained ERK activation, which is required for NFAT activation and the full production of IL-2." - pmids: - - "15339934" - - text: "The data of this study suggest that activating mutations of B-RAF are not a frequent event in gliomas; nevertheless, when present they are associated with high-grade malignant lesions." - pmids: - - "15791479" - - text: "selective reduction in catalytic activity and expression of B-Raf but not Raf-1 suggest that B-Raf may be playing an important role in altered ERK signaling in brain of suicide subjects, and thus in the pathophysiology of suicide" - pmids: - - "16172610" - - text: KSHV-infected cell lines expressed higher levels of B-Raf and VEGF-A; B-Raf-induced VEGF-A expression was demonstrated to be sufficient to enhance tubule formation in endothelial cells - pmids: - - "15705790" - - text: B-Raf and ERK are activated by cyclic AMP after calcium restriction - pmids: - - "15263001" - - text: "REVIEW: our understanding of B-RAF as an oncogene and of its role in cancer" - pmids: - - "15488754" - - text: "In this study, this BRAF mutation was demonstrated in some conjunctival melanoma tissue samples, suggesting that some conjunctival melanomas may share biological features in common with cutaneous melanoma." - pmids: - - "15277467" - - text: BRAF mutations proved to be absent in tumors from hereditary nonpolyposis colorectal cancer syndrome (HNPCC) families with germline mutations in the MMR genes MLH1 and MSH2. - pmids: - - "15782118" - - text: Anaplastic thyroid carcinomas which are derived from papillary carcinomas are due to BRAF and p53 mutations - pmids: - - "15880523" - - text: The increasing frequency of BRAF mutations as a function of age could help account for the well documented but poorly understood observation that age is a relevant prognostic indicator for patients with papillary thyroid carcinoma. - pmids: - - "15968271" - - text: Mutations of the BRAF gene are partly involved in the malignant transformation of the endometrium. - pmids: - - "16144912" - - text: V599E BRAF mutation was uncommon in Japanese lung cancer. - pmids: - - "16376942" - - text: wild-type B-Raf-mediated ERK1/2 activation plays a major role in proliferation and transformation of uveal melanocytes; Raf-1 is not involved in this activation - pmids: - - "16452469" - - text: Braf mutations in thyroid tumorigenesis. - pmids: - - "16946010" - - text: data support a model in which mutational activation of BRAF in human melanomas contributes to constitutive induction of NF-kappaB activity and to increased survival of melanoma cells - pmids: - - "17001349" - - text: The role for BRAF activation in thyroid cancer development and establishing the potential therapeutic efficacy of BRAF-targeted agents in patients with thyroid cancerwill be reviewed. - pmids: - - "17179987" - - text: characterization of the T1799-1801del and A1799-1816ins BRAF mutations in papillary thyroid cancer; the two new mutations resulted in constitutive activation of the BRAF kinase and caused NIH3T3 cell transformation - pmids: - - "17297294" - - text: "BRAF mutations in colorectal cancers occur only in tumours that do not carry mutations in a RAS gene known as KRAS, and BRAF mutation is linked to the proficiency of these tumours in repairing mismatched bases in DNA" - pmids: - - "12198537" - - text: "cAMP activates ERK and increases proliferation of autosomal dominant polycystic kindey epithelial cells through the sequential phosphorylation of PKA, B-Raf and MAPK in a pathway separate from the classical receptor tyrosine kinase cascade" - pmids: - - "12753285" - - text: BRAF mutations are associated with proximal colon tumors with mismatch repair deficiency and MLH1 hypermethylation. - pmids: - - "14695993" - - text: "RAS or BRAF mutations are detected in about 32% of all Barrett's adenocarcinomas; the disruption of the Raf/MEK/ERK (MAPK) kinase pathway is a frequent but also early event in the development of Barrett's adenocarcinoma" - pmids: - - "14724583" - - text: BRAF mutations are rather rare in solitary cold adenomas and adenomatous nodules and do not explain the molecular etiology of ras mutation-negative cold thyroid nodules. - pmids: - - "15186612" - - text: mutated in papillary thyroid cancer. - pmids: - - "15273715" - - text: High frequency of BRAF mutations in nevi - pmids: - - "12447372" - - text: These results suggest that the BRAF mutation is unlikely to be involved in gastric carcinogenesis. - pmids: - - "15104286" - - text: Mutations within the BRAF gene are useful markers for the differential diagnosis between Spitz nevus and malignant melanoma. - pmids: - - "15330192" - - text: These results suggest that BRAF mutations do not have a role in tumorigenesis of neuroendocrine gastroenteropancreatic tumors. - pmids: - - "15842051" - - text: Mutations in the BRAF protooncogene (V599E)may be an alternative pathway of tumorigenesis of familial colorectal cancer. - pmids: - - "15765445" - - text: "The results showed that conjunctival nevi, similar to skin nevi, have a high frequency of oncogenic BRAF mutations." - pmids: - - "16123397" - - text: Data suggest that B-RAF activates C-RAF through a mechanism involving 14-3-3 mediated heterooligomerization and C-RAF transphosphorylation. - pmids: - - "16364920" - - text: "The estimated proportion of attributable risk of melanoma due to variants in BRAF is 1.6%, but the burden of disease associated with this variant is greater than that associated with the major melanoma locus (CDKN2A) which has a risk of 0.2%." - pmids: - - "16354196" - - text: Melanoma cells require either B-RAF or phosphoinositide-3 kinase activation for protection from anoikis. - pmids: - - "16547495" - - text: a BRAFT1799A mutation may have a role in poor differentiation of thyroid carcinoma - pmids: - - "16786134" - - text: "Thus, we propose that the hitherto unidentified function of the B-Raf amino-terminal region is to mediate calcium-dependent activation of B-Raf and the following MEK activation, which may occur in the absence of Ras activation." - pmids: - - "16858395" - - text: BRAF mutation was frequent in hyperplastic polyps (67%) and sessile serrated adenomas (81%). - pmids: - - "16879389" - - text: BRAF mutations are associated with colorectal cancers - pmids: - - "16918136" - - text: "BRAFV600E activates not only MAPK but also NF-kappaB signaling pathway in human thyroid cancer cells, leading to an acquisition of apoptotic resistance and promotion of invasion." - pmids: - - "16959844" - - text: "data provide evidence that oncogenic properties of BRAF contribute to the tumorigenesis of intraductal papillary mucinous neoplasm/carcinoma (IPMN/IPMC), but at a lower frequency than KRAS" - pmids: - - "17097223" - - text: there is a subgroup of colorectal carcinomas which develop via the microsatellite instability pathway that carry an alteration of the BRAF gene - pmids: - - "17195912" - - text: "Overexpression of B-Raf mRNA and protein may be a feature of nonfunctioning pituitary adenomas, highlighting overactivity of the Ras-B-Raf-MAP kinase pathway in these tumors." - pmids: - - "17302867" - - text: data suggest that BRAF mutations might be present less frequently than KRAS mutations in Greek patients with colorectal carcinomas - pmids: - - "17393356" - - text: Data suggest that BRAF T1796A activating mutation is not common in primary uveal melanoma. - pmids: - - "12824225" - - text: Mutations were found in exon 15 in colorectal adenocarcinoma. - pmids: - - "14688025" - - text: "BRAF(V599E) is more common genetic alteration found to date in adult sporadic papillary thyroid carcinomas (PTCs). It is unique for this thyroid cancer histotype, and it might drive the development of PTCs of classic papillary subtype." - pmids: - - "15126572" - - text: Data suggest that Rit is involved in a novel pathway of neuronal development and regeneration by coupling specific trophic factor signals to sustained activation of the B-Raf/ERK and p38 MAP kinase cascades. - pmids: - - "15632082" - - text: B-raf mutations surrounding Thr439 found in human cancers are unlikely to contribute to increased oncogenic properties of B-raf - pmids: - - "15791648" - - text: Role of BRAF mutation in facilitating metastasis and progression of papillary thyroid cancer in lymph nodes. - pmids: - - "15998781" - - text: V600E B-Raf requires the Hsp90 chaperone for stability and is degraded in response to Hsp90 inhibitors. - pmids: - - "16371460" - - text: "The authors have developed and run a high-throughput screen to find inhibitors of V600E BRAF using an enzyme cascade assay in which oncogenic BRAF activates MEK1, which in turn activates ERK2, which then phosphorylates the transcription factor ELK1." - pmids: - - "16361694" - - text: mutations in the BRAF gene and to some extent in the N-ras gene represent early somatic events that occur in melanocytic nevi - pmids: - - "15009715" - - text: possible cooperation between BRAF activation and PTEN loss in melanoma development. - pmids: - - "15009714" - - text: "Data suggest that SPRY2, an inhibitor of ERK signaling, may be bypassed in melanoma cells either by down-regulation of its expression in WT BRAF cells, or by the presence of the BRAF mutation." - pmids: - - "15313890" - - text: The most frequent B-RAF gene alterations are not involved in prostate carcinogenesis - pmids: - - "16413100" - - text: mucosal melanomas of the head and neck do not frequently harbor an activating mutation of BRAF - pmids: - - "15161700" - - text: somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers - pmids: - - "12068308" - - text: ovarian serous cystadenomas do not contain mutations in either BRAF or KRAS genes - pmids: - - "15077125" - - text: BRAF mutations are associated with conjunctival neoplasms - pmids: - - "15577314" - - text: "We found mutations in p53, K-ras, and BRAF genes in 35%, 30%, and 4% of tumors, respectively, and observed a minimal or no co-presence of these gene alterations." - pmids: - - "15702478" - - text: BRAF mutation occurs later in thyroid tumor progression and is restricted mainly to papillary thyroid carcinoma and anaplastic thyroid carcinoma - pmids: - - "15980887" - - text: "findings demonstrate that heterogeneous de novo missense mutations in three genes within the mitogen-activated protein kinase pathway, BRAF, MEK1 and MEK2 cause cardio-facio-cutaneous syndrome" - pmids: - - "16439621" - - text: Cardio-facio-cutaneous (CFC) syndrome involves dysregulation of the RAS-RAF-ERK pathway. - pmids: - - "16474404" - - text: gain-of-function BRAF signaling is strongly associated with in vivo tumorigenicity - pmids: - - "16424035" - - text: "NRAS and BRAF activating mutations can coexist in the same melanoma, but are mutually exclusive at the single-cell level" - pmids: - - "16462768" - - text: "Aberrant methylation and hence silencing of TIMP3, SLC5A8, DAPK and RARbeta2, in association with BRAF mutation, may be an important step in PTC tumorigenesis and progression." - pmids: - - "16858683" - - text: "BRAF, K-ras and BAT26 are expressed in colorectal polyps and stool" - pmids: - - "16937524" - - text: "Previously identified associations between smoking and colon cancer, whether microsatellite unstable or stable, appear to be explained by the association of smoking with BRAF mutation." - pmids: - - "17148775" - - text: BRAF(T1799A) mutation is associated with a lower rate of tumor proliferation. - pmids: - - "17159915" - - text: B-RAF mutations are a rare event in pituitary tumorigenesis. - pmids: - - "17318013" - - text: analysis of a BRAF mutation-associated gene expression signature in melanoma - pmids: - - "17516929" - - text: BRAF has a role in in squamous cell carcinoma of the head and neck through uncommon mutations - pmids: - - "12879021" - - text: None of the cases of gastric cancer showed braf mutations - pmids: - - "14618633" - - text: Mucinous ovarian cancers without a KRAS mutation have not sustained alternative activation of this signaling pathway through mutation of the BRAF oncogene. - pmids: - - "12893203" - - text: "activating mutations of PDGFR-alpha, c-kit and B-RAF are absent in gliosarcomas" - pmids: - - "16373964" - - text: "UV light is not necessarily required for the acquisition of the BRAF(V600E) mutation, and non-mutagenic effects of UV light to melanocytes may be more important in the nevogenesis" - pmids: - - "16691193" - - text: Single nucleotide polymorphism found exclusively in papillary thyroid carcinoma. - pmids: - - "16932278" - - text: "Concomitant KRAS and BRAF mutations increased along progression of MSS colorectal cancer, suggesting that activation of both genes is likely to harbour a synergistic effect" - pmids: - - "16953233" - - text: Extracellular signal-regulated kinase-3 (ERK3/MAPK6) is highly expressed in response to BRAF signaling. - pmids: - - "16964379" - - text: Association with preexisting nevi and pronounced infiltration of lymphocytes was significantly higher in BRAF mutated melanoma tumours - pmids: - - "17119447" - - text: BRAF-V600E mutations are mainly involved in colorectal cancer families characterized by an increased risk of other common malignancies - pmids: - - "17119056" - - text: BRAFV600E represents a detectable marker in the plasma/serum from melanoma patients for monitoring but not diagnostic purposes - pmids: - - "17315191" - - text: MEK1 interacts with B-Raf. - pmids: - - "8621729" -- gene_id: "3845" - summary: "This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]" - rif_entries: - - text: Expansion of KRAS hotspot mutations reactive T cells from human pancreatic tumors using autologous T cells as the antigen-presenting cells. - pmids: - - "36436020" - - text: "[Landscape of KRAS, BRAF, and PIK3CA Mutations and Clinical Features of EBV-Associated and Microsatellite Unstable Gastric Cancer]." - pmids: - - "36976740" - - text: Distribution and prognostic impact of EGFR and KRAS mutations according to histological subtype and tumor invasion status in pTis-3N0M0 lung adenocarcinoma. - pmids: - - "36918771" - - text: Analysis of KRAS Mutations in Gastrointestinal Tract Adenocarcinomas Reveals Site-Specific Mutational Signatures. - pmids: - - "36853786" - - text: Impact of KRAS Mutations on Clinical Outcomes of Patients with Advanced Non-Squamous Non-Small Cell Lung Cancer Receiving Anti-PD-1/PD-L1 Therapy. - pmids: - - "36482151" - - text: Elevated FSP1 protects KRAS-mutated cells from ferroptosis during tumor initiation. - pmids: - - "36443441" - - text: Mutant KRAS Drives Immune Evasion by Sensitizing Cytotoxic T-Cells to Activation-Induced Cell Death in Colorectal Cancer. - pmids: - - "36599679" - - text: Oncogenic RAS promotes MYC protein stability by upregulating the expression of the inhibitor of apoptosis protein family member Survivin. - pmids: - - "36581205" - - text: Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10. - pmids: - - "36538983" - - text: Extensive genomic analysis in patients with KRAS-mutated solid tumors shows high frequencies of concurrent alterations and potential targets but has limited clinical impact. - pmids: - - "36529989" - - text: "KRAS mutation status between left- and right-sided colorectal cancer: are there any differences in computed tomography?" - pmids: - - "35976561" - - text: CircIFNGR2 enhances proliferation and migration of CRC and induces cetuximab resistance by indirectly targeting KRAS via sponging to MiR-30b. - pmids: - - "36639711" - - text: Association between KRAS gene polymorphisms and genetic susceptibility to breast cancer in a Chinese population. - pmids: - - "36510353" - - text: Oncogenic KRAS signaling drives evasion of innate immune surveillance in lung adenocarcinoma by activating CD47. - pmids: - - "36413402" - - text: "RAS and BRAF genes as biomarkers and target for personalised colorectal cancer therapy: An update." - pmids: - - "36591710" - - text: "The relationships of OSBPL3 expression with KI-67 expression and KRAS mutations in CRC: implications for diagnosis and prognosis." - pmids: - - "36517805" - - text: Oncogenic KRAS alters splicing factor phosphorylation and alternative splicing in lung cancer. - pmids: - - "36522653" - - text: High frequency of KRAS and EGFR mutation profiles in BRAF-negative thyroid carcinomas in Indonesia. - pmids: - - "36510281" - - text: KRAS G12D mutation eliminates reactive oxygen species through the Nrf2/CSE/H 2S axis and contributes to pancreatic cancer growth. - pmids: - - "36514219" - - text: Prognostic and Predictive Impact of Primary Tumor Sidedness for Previously Untreated Advanced Colorectal Cancer. - pmids: - - "34061178" - - text: "Impact of a haplotype (composed of the APC, KRAS, and TP53 genes) on colorectal adenocarcinoma differentiation and patient prognosis." - pmids: - - "36288643" - - text: "Differential properties of KRAS transversion and transition mutations in non-small cell lung cancer: associations with environmental factors and clinical outcomes." - pmids: - - "36348317" - - text: The dynamicity of mutant KRAS beta2 strand modulates its downstream activation and predicts anticancer KRAS inhibition. - pmids: - - "36228769" - - text: "Energy balance-related factors in childhood and adolescence and risk of colorectal cancer based on KRAS, PIK3CA, and BRAF mutations and MMR status." - pmids: - - "36177801" - - text: "Correlations among KRAS Mutation, Microsatellite Instability, and 18F-FDG Uptake in Colon Cancer." - pmids: - - "36308376" - - text: Chemical acylation of an acquired serine suppresses oncogenic signaling of K-Ras(G12S). - pmids: - - "35864332" - - text: "KRAS alterations in colorectal liver metastases: shifting to exon, codon, and point mutations." - pmids: - - "35595182" - - text: Interplays of glucose metabolism and KRAS mutation in pancreatic ductal adenocarcinoma. - pmids: - - "36151074" - - text: "Both Kras gene mutation and Her2 gene mutation tend to exist in an inverse manner but not mutually exclusive in mucinous ovarian carcinoma: An analysis of 21 taiwanese women." - pmids: - - "35900578" - - text: "Dissecting the clinicopathologic, genomic, and immunophenotypic correlates of KRAS(G12D)-mutated non-small-cell lung cancer." - pmids: - - "35872166" - - text: The kinase PLK1 promotes the development of Kras/Tp53-mutant lung adenocarcinoma through transcriptional activation of the receptor RET. - pmids: - - "36194647" - - text: "Impact of anatomical liver resection on patient survival in KRAS-wild-type colorectal liver metastasis: A multicenter retrospective study." - pmids: - - "35965146" - - text: Colorectal cancer-derived exosomes and modulation KRAS signaling. - pmids: - - "35789981" - - text: "Adagrasib, a KRAS G12C inhibitor, reverses the multidrug resistance mediated by ABCB1 in vitro and in vivo." - pmids: - - "36104708" - - text: EHMT2 methyltransferase governs cell identity in the lung and is required for KRAS (G12D) tumor development and propagation. - pmids: - - "35983994" - - text: "KRAS variant allele frequency, but not mutation positivity, associates with survival of patients with pancreatic cancer." - pmids: - - "35567350" - - text: Markov State Models and Molecular Dynamics Simulations Reveal the Conformational Transition of the Intrinsically Disordered Hypervariable Region of K-Ras4B to the Ordered Conformation. - pmids: - - "35994329" - - text: KRAS-G12D mutation drives immune suppression and the primary resistance of anti-PD-1/PD-L1 immunotherapy in non-small cell lung cancer. - pmids: - - "35811500" - - text: "Moving Towards Dawn: KRas Signaling and Treatment in Pancreatic Ductal Adenocarcinoma." - pmids: - - "35088684" - - text: Correlation of miR-31 and miR-373 expression with KRAS mutations and its impact on prognosis in colorectal cancer. - pmids: - - "35989410" - - text: The Potency of a KRAS Silent Variant. - pmids: - - "35767444" - - text: "Effect of KRAS codon 12 or 13 mutations on survival with trifluridine/tipiracil in pretreated metastatic colorectal cancer: a meta-analysis." - pmids: - - "35688062" - - text: Recurrent KRAS mutations are early events in the development of papillary renal neoplasm with reverse polarity. - pmids: - - "35152262" - - text: Genomic and Clinical Analysis of Children with Acute Lymphoblastic Leukemia. - pmids: - - "36017149" - - text: Indoloquinoline-Mediated Targeted Downregulation of KRAS through Selective Stabilization of the Mid-Promoter G-Quadruplex Structure. - pmids: - - "36011352" - - text: "KRAS mutation in intrahepatic cholangiocarcinoma: Linkage with metastasis-free survival and reduced E-cadherin expression." - pmids: - - "35833881" - - text: Meta-analysis on prognostic value of KRAS mutation in resected mass-forming cholangiocarcinoma. - pmids: - - "35317947" - - text: "Joint effects of polycyclic aromatic hydrocarbons, smoking, and XPC polymorphisms on damage in exon 2 of KRAS gene among young coke oven workers." - pmids: - - "35991047" - - text: "A special subtype: Revealing the potential intervention and great value of KRAS wildtype pancreatic cancer." - pmids: - - "35732240" - - text: Functional and biological heterogeneity of KRAS(Q61) mutations. - pmids: - - "35944066" - - text: Engineered KRAS G12D-Reactive T Cells Show Promise in Pancreatic Cancer. - pmids: - - "35686834" - - text: "ctDNA: Moving toward Clinical Utility." - pmids: - - "35671334" - - text: Characterization of KRAS Mutational Regression in Oligometastatic Patients. - pmids: - - "35936004" - - text: Evaluation of the Role of the KRAS Gene Polymorphism LCS6 (rs61764370) in Iraqi Women with Ovarian Cancer. - pmids: - - "35891756" - - text: "KRAS Mutation: Characterization and Its Impact on Survival Outcome of Patients with Metastatic Colorectal Cancer." - pmids: - - "35866409" - - text: Mutant KRAS regulates transposable element RNA and innate immunity via KRAB zinc-finger genes. - pmids: - - "35858545" - - text: KRAS mutations as essential promoters of lymphangiogenesis via extracellular vesicles in pancreatic cancer. - pmids: - - "35838046" - - text: "Regulation of VEGFA, KRAS, and NFE2L2 Oncogenes by MicroRNAs in Head and Neck Cancer." - pmids: - - "35806488" - - text: KRAS mutant-driven SUMOylation controls extracellular vesicle transmission to trigger lymphangiogenesis in pancreatic cancer. - pmids: - - "35579947" - - text: KRAS mutation allele frequency threshold alters prognosis in right-sided resected pancreatic cancer. - pmids: - - "35333412" - - text: KRAS(G12R)-Independent Macropinocytosis in Pancreatic Cancer. - pmids: - - "35378710" - - text: KRAS(G12C)-independent feedback activation of wild-type RAS constrains KRAS(G12C) inhibitor efficacy. - pmids: - - "35732135" - - text: "Tumor profiling of KRAS, BRAF, and NRAS gene mutations in patients with colorectal cancer: A Lebanese major center cohort study." - pmids: - - "35680020" - - text: Mutation patterns and prognostic analysis of BRAF/KRAS/PIK3CA in colorectal cancer. - pmids: - - "35435290" - - text: BRAF V600E and previously unidentified KRAS G12C mutations in odontogenic tumors may affect MAPK activation differently depending on tumor type. - pmids: - - "35353428" - - text: PATTERN OF KRAS GENE EXPRESSION IN IRAQI WOMEN OVARIAN CARCINOMA. - pmids: - - "35633344" - - text: AIMP2-DX2 provides therapeutic interface to control KRAS-driven tumorigenesis. - pmids: - - "35546148" - - text: Mutant KRAS drives metabolic reprogramming and autophagic flux in premalignant pancreatic cells. - pmids: - - "33833413" - - text: Concomitant KRAS mutations attenuate sensitivity of non-small cell lung cancer cells to KRAS G12C inhibition. - pmids: - - "35177674" - - text: The Advance and Correlation of KRAS Mutation With the Fertility-Preservation Treatment of Endometrial Cancer in the Background of Molecular Classification Application. - pmids: - - "34975345" - - text: Differential expression analysis of genes and long non-coding RNAs associated with KRAS mutation in colorectal cancer cells. - pmids: - - "35562390" - - text: Structures of RGL1 RAS-Association Domain in Complex with KRAS and the Oncogenic G12V Mutant. - pmids: - - "35257782" - - text: "NMR (1)H, (13)C, (15)N backbone resonance assignments of the T35S and oncogenic T35S/Q61L mutants of human KRAS4b in the active, GppNHp-bound conformation." - pmids: - - "34686998" - - text: "(1) H, (15) N and (13) C resonance assignments of the Q61H mutant of human KRAS bound to GDP." - pmids: - - "34787842" - - text: The prognostic value of KRAS mutation in locally advanced rectal cancer. - pmids: - - "35484252" - - text: "Association of RAS/BRAF Status and Prognosis of Metastatic Colorectal Cancer: Analysis of 1002 Consecutive Cases." - pmids: - - "35301609" - - text: Effect of Co-mutation of RAS and TP53 on Postoperative ctDNA Detection and Early Recurrence after Hepatectomy for Colorectal Liver Metastases. - pmids: - - "35290266" - - text: The human AP-endonuclease 1 (APE1) is a DNA G-quadruplex structure binding protein and regulates KRAS expression in pancreatic ductal adenocarcinoma cells. - pmids: - - "35286386" - - text: Silent mutations reveal therapeutic vulnerability in RAS Q61 cancers. - pmids: - - "35236983" - - text: HIPK2 Cooperates with KRAS Signaling and Associates with Colorectal Cancer Progression. - pmids: - - "35082165" - - text: KRAS mutation in pancreatic cancer. - pmids: - - "33676749" - - text: Diminished Efficacy of Programmed Death-(Ligand)1 Inhibition in STK11- and KEAP1-Mutant Lung Adenocarcinoma Is Affected by KRAS Mutation Status. - pmids: - - "34740862" - - text: "Mutant KRAS as a prognostic biomarker after hepatectomy for rectal cancer metastases: Does the primary disease site matter?" - pmids: - - "34614304" - - text: Prevalence of KRAS p.(G12C) in stage IV NSCLC patients in the Netherlands; a nation-wide retrospective cohort study. - pmids: - - "35349855" - - text: "KRAS: A Druggable Target in Colon Cancer Patients." - pmids: - - "35456940" - - text: The Impact of KRAS Mutation in Patients With Sporadic Nonampullary Duodenal Epithelial Tumors. - pmids: - - "34797780" - - text: Same-Cell Co-Occurrence of RAS Hotspot and BRAF V600E Mutations in Treatment-Naive Colorectal Cancer. - pmids: - - "35235413" - - text: Activating KRAS and GNAS mutations in heterotopic submucosal glands of the stomach. - pmids: - - "35188590" - - text: Validation of a small molecule inhibitor of PDE6D-RAS interaction with favorable anti-leukemic effects. - pmids: - - "35422065" - - text: "Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies." - pmids: - - "35409398" - - text: "KRAS and BRAF Mutations in Stage II and III Colon Cancer: A Systematic Review and Meta-Analysis." - pmids: - - "34542636" - - text: KRAS Addiction Promotes Cancer Cell Adaptation in Harsh Microenvironment Through Macropinocytosis. - pmids: - - "35378709" - - text: Classification of KRAS-Activating Mutations and the Implications for Therapeutic Intervention. - pmids: - - "35373279" - - text: Sotorasib Tackles KRASG12C-Mutated Pancreatic Cancer. - pmids: - - "35373275" - - text: "Landscape of KRAS(G12C), Associated Genomic Alterations, and Interrelation With Immuno-Oncology Biomarkers in KRAS-Mutated Cancers." - pmids: - - "35319967" - - text: Targeting the ERK mitogen-activated protein kinase cascade for the treatment of KRAS-mutant pancreatic cancer. - pmids: - - "35101228" - - text: Leukotriene B4 receptor-2 contributes to KRAS-driven lung tumor formation by promoting interleukin-6-mediated inflammation. - pmids: - - "34635780" - - text: Targeted Transcriptome and KRAS Mutation Analysis Improve the Diagnostic Performance of EUS-FNA Biopsies in Pancreatic Cancer. - pmids: - - "34400416" - - text: KRAS Inhibitor Resistance in MET-Amplified KRAS (G12C) Non-Small Cell Lung Cancer Induced By RAS- and Non-RAS-Mediated Cell Signaling Mechanisms. - pmids: - - "34365406" - - text: Clinical and Functional Characterization of Atypical KRAS/NRAS Mutations in Metastatic Colorectal Cancer. - pmids: - - "34117033" - - text: Rapid idiosyncratic mechanisms of clinical resistance to KRAS G12C inhibition. - pmids: - - "34990404" - - text: Limited Prognostic Value of KRAS in Patients Undergoing Hepatectomy for Colorectal Liver Metastases. - pmids: - - "34851437" - - text: Metabonomics study of the effects of single copy mutant KRAS in the presence or absence of WT allele using human HCT116 isogenic cell lines. - pmids: - - "34822010" - - text: KRAS A146 Mutations Are Associated With Distinct Clinical Behavior in Patients With Colorectal Liver Metastases. - pmids: - - "34820593" - - text: Comprehensive Analysis of Somatic Mutations in Driver Genes of Resected Pancreatic Ductal Adenocarcinoma Reveals KRAS G12D and Mutant TP53 Combination as an Independent Predictor of Clinical Outcome. - pmids: - - "34792696" - - text: "Association between rs61764370, rs9266, and rs140080026 polymorphisms of the KRAS gene and breast cancer risk in a Mexican population." - pmids: - - "34787849" - - text: "KRAS mutation: from undruggable to druggable in cancer." - pmids: - - "34776511" - - text: "Frequency and Clinicopathological Characteristics of Patients With KRAS/BRAF Double-Mutant Colorectal Cancer: An In Silico Study." - pmids: - - "35280113" - - text: KRAS gene mutation quantification in the resection or venous margins of pancreatic ductal adenocarcinoma is not predictive of disease recurrence. - pmids: - - "35194118" - - text: Mutant GNAS limits tumor aggressiveness in established pancreatic cancer via antagonizing the KRAS-pathway. - pmids: - - "35018527" - - text: Uptake of KRAS Testing and Anti-EGFR Antibody Use for Colorectal Cancer in the VA. - pmids: - - "34250412" - - text: Comprehensive Clinical and Molecular Characterization of KRAS (G12C)-Mutant Colorectal Cancer. - pmids: - - "34250391" - - text: Identification of Targetable Gene Fusions and Structural Rearrangements to Foster Precision Medicine in KRAS Wild-Type Pancreatic Cancer. - pmids: - - "34250383" - - text: Mutant KRAS triggers functional reprogramming of tumor-associated macrophages in colorectal cancer. - pmids: - - "33833221" - - text: KRAS signaling in malignant pleural mesothelioma. - pmids: - - "34898002" - - text: "The impact of KRAS mutation, microsatellite instability, and tumor laterality on the prognosis of nonmetastatic colon cancer." - pmids: - - "34865865" - - text: Targeting KRAS Regulation with PolyPurine Reverse Hoogsteen Oligonucleotides. - pmids: - - "35216221" - - text: Neuropilin-1 is over-expressed in claudin-low breast cancer and promotes tumor progression through acquisition of stem cell characteristics and RAS/MAPK pathway activation. - pmids: - - "35078508" - - text: KRAS (G12C) Mutation Is Associated with Increased Risk of Recurrence in Surgically Resected Lung Adenocarcinoma. - pmids: - - "33593884" - - text: Clinical characteristics and prognostic value of the KRAS mutation in Chinese colorectal cancer patients. - pmids: - - "34044655" - - text: Association Between KRAS Variant Status and Outcomes With First-line Immune Checkpoint Inhibitor-Based Therapy in Patients With Advanced Non-Small-Cell Lung Cancer. - pmids: - - "33856403" - - text: "Impact of KRAS, BRAF and microsatellite instability status after cytoreductive surgery and HIPEC in a national cohort of colorectal peritoneal metastasis patients." - pmids: - - "34887523" - - text: Age-dependent prognostic value of KRAS mutation in metastatic colorectal cancer. - pmids: - - "34758634" - - text: Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis. - pmids: - - "33115932" - - text: "Transcriptomic Mapping of Non-Small Cell Lung Cancer K-RAS p.G12C Mutated Tumors: Identification of Surfaceome Targets and Immunologic Correlates." - pmids: - - "35178045" - - text: "Pancreatic tumor initiation: the potential role of IL-33." - pmids: - - "34023857" - - text: Prognostic Value of KRAS Mutation Subtypes and PD-L1 Expression in Patients With Lung Adenocarcinoma. - pmids: - - "32807653" - - text: "KRAS and MET in non-small-cell lung cancer: two of the new kids on the 'drivers' block." - pmids: - - "35098800" - - text: T7 Endonuclease I-mediated voltammetric detection of KRAS mutation coupled with horseradish peroxidase for signal amplification. - pmids: - - "35083578" - - text: Mutated RAS-associating proteins and ERK activation in relapse/refractory diffuse large B cell lymphoma. - pmids: - - "35039569" - - text: Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer. - pmids: - - "35011738" - - text: Epigenetic basis of oncogenic-Kras-mediated epithelial-cellular proliferation and plasticity. - pmids: - - "35134344" - - text: Regulation of EGFR signalling by palmitoylation and its role in tumorigenesis. - pmids: - - "34610265" - - text: KRAS mutation analysis by droplet digital PCR of duodenal juice from patients with MODY8 and other pancreatic diseases. - pmids: - - "34580018" - - text: Evaluation of circulating cell-free KRAS mutational status as a molecular monitoring tool in patients with pancreatic cancer. - pmids: - - "34511398" - - text: Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome. - pmids: - - "34254724" - - text: Machine learning-driven multiscale modeling reveals lipid-dependent dynamics of RAS signaling proteins. - pmids: - - "34983849" - - text: CircCD44 plays oncogenic roles in triple-negative breast cancer by modulating the miR-502-5p/KRAS and IGF2BP2/Myc axes. - pmids: - - "34696797" - - text: Overcoming Adaptive Resistance to KRAS and MEK Inhibitors by Co-targeting mTORC1/2 Complexes in Pancreatic Cancer. - pmids: - - "33294856" - - text: "The improbable targeted therapy: KRAS as an emerging target in non-small cell lung cancer (NSCLC)." - pmids: - - "33521700" - - text: Structural insights into the BRAF monomer-to-dimer transition mediated by RAS binding. - pmids: - - "35078985" - - text: Sequence-Selective Covalent CaaX-Box Receptors Prevent Farnesylation of Oncogenic Ras Proteins and Impact MAPK/PI3 K Signaling. - pmids: - - "33899342" - - text: Endothelial k-RasV12 Expression Induces Capillary Deficiency Attributable to Marked Tube Network Expansion Coupled to Reduced Pericytes and Basement Membranes. - pmids: - - "34879709" - - text: Association of KRAS Variant Subtypes With Survival and Recurrence in Patients With Surgically Treated Intrahepatic Cholangiocarcinoma. - pmids: - - "34730772" - - text: "Associations of Polymorphisms Localized in the 3'UTR Regions of the KRAS, NRAS, MAPK1 Genes with Laryngeal Squamous Cell Carcinoma." - pmids: - - "34828284" - - text: Analysis of KRAS Mutation Status Prediction Model for Colorectal Cancer Based on Medical Imaging. - pmids: - - "34976107" - - text: A phospho-proteomic study of cetuximab resistance in KRAS/NRAS/BRAF(V600) wild-type colorectal cancer. - pmids: - - "34462871" - - text: Association between autophagy and KRAS mutation with clinicopathological variables in colorectal cancer patients. - pmids: - - "34448791" - - text: Role of the preoperative circulating tumor DNA KRAS mutation in patients with resectable pancreatic cancer. - pmids: - - "34120460" - - text: Mutant KRAS Downregulates the Receptor for Leukemia Inhibitory Factor (LIF) to Enhance a Signature of Glycolysis in Pancreatic Cancer and Lung Cancer. - pmids: - - "33931487" - - text: Mutational status of plasma exosomal KRAS predicts outcome in patients with metastatic colorectal cancer. - pmids: - - "34811396" - - text: Not All Kirsten Rat Sarcoma Viral Oncogene Homolog Mutations Predict Poor Survival in Patients With Unresectable Colorectal Liver Metastasis. - pmids: - - "34669528" - - text: Dietary Fat Intake and KRAS Mutations in Colorectal Cancer in a Moroccan Population. - pmids: - - "35057499" - - text: Targeting the ERbeta/HER Oncogenic Network in KRAS Mutant Lung Cancer Modulates the Tumor Microenvironment and Is Synergistic with Sequential Immunotherapy. - pmids: - - "35008514" - - text: Past and Future Strategies to Inhibit Membrane Localization of the KRAS Oncogene. - pmids: - - "34947990" - - text: D154Q Mutation does not Alter KRAS Dimerization. - pmids: - - "34896362" - - text: KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib. - pmids: - - "34190333" - - text: p27kip1 expression and phosphorylation dictate Palbociclib sensitivity in KRAS-mutated colorectal cancer. - pmids: - - "34654798" - - text: Topographic mapping of the glioblastoma proteome reveals a triple-axis model of intra-tumoral heterogeneity. - pmids: - - "35013227" - - text: High SHP2 expression determines the efficacy of PD-1/PD-L1 inhibitors in advanced KRAS mutant non-small cell lung cancer. - pmids: - - "34490728" - - text: Identification of mutant K-RAS in pituitary macroadenoma. - pmids: - - "33954928" - - text: The prognostic value of Kirsten rat sarcoma viral oncogene homolog mutations in resected lung adenocarcinoma differs according to clinical features. - pmids: - - "32739163" - - text: Promotion of cancer cell stemness by Ras. - pmids: - - "33544116" - - text: Prognostic value of absolute quantification of mutated KRAS in circulating tumour DNA in lung adenocarcinoma patients prior to therapy. - pmids: - - "33502820" - - text: "After decades, RAS mutation has finally become a therapeutic target." - pmids: - - "34657456" - - text: Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations. - pmids: - - "34114335" - - text: Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants. - pmids: - - "34056834" - - text: Selective targeting of KRAS-driven lung tumorigenesis via unresolved ER stress. - pmids: - - "33830081" - - text: MicroRNA-16 Restores Sensitivity to Tyrosine Kinase Inhibitors and Outperforms MEK Inhibitors in KRAS-Mutated Non-Small Cell Lung Cancer. - pmids: - - "34948154" - - text: Targeted Long-Read Sequencing Decodes the Transcriptional Atlas of the Founding RAS Gene Family Members. - pmids: - - "34948093" - - text: Development of a KRAS-Associated Metabolic Risk Model for Prognostic Prediction in Pancreatic Cancer. - pmids: - - "34660806" - - text: "High expression of LAMA3/AC245041.2 gene pair associated with KRAS mutation and poor survival in pancreatic adenocarcinoma: a comprehensive TCGA analysis." - pmids: - - "34134622" - - text: Plasma KRAS mutations predict the early recurrence after surgical resection of pancreatic cancer. - pmids: - - "34632919" - - text: Expression of Immuno-Oncologic Biomarkers Is Enriched in Colorectal Cancers and Other Solid Tumors Harboring the A59T Variant of KRAS. - pmids: - - "34063999" - - text: The function and mechanism of the miR-210-3p/KRAS axis in bone marrow-derived mesenchymal stem cell from patients with osteoporosis. - pmids: - - "33982450" - - text: Endoplasmic reticulum chaperone GRP78/BiP is critical for mutant Kras-driven lung tumorigenesis. - pmids: - - "33931739" - - text: Genomic and prognostic heterogeneity among RAS/BRAF(V600E) /TP53 co-mutated resectable colorectal liver metastases. - pmids: - - "33325154" - - text: Loss of the wild-type KRAS allele promotes pancreatic cancer progression through functional activation of YAP1. - pmids: - - "34663879" - - text: EGFR and KRAS Mutations in Lung Parenchyma of Subjects With EGFR/KRAS Wild-Type Lung Adenocarcinoma. - pmids: - - "34257550" - - text: Common and mutation specific phenotypes of KRAS and BRAF mutations in colorectal cancer cells revealed by integrative -omics analysis. - pmids: - - "34233735" - - text: PPP2R4 dysfunction promotes KRAS-mutant lung adenocarcinoma development and mediates opposite responses to MEK and mTOR inhibition. - pmids: - - "34216687" - - text: "KARATE: PKA-induced KRAS4B-RHOA-mTORC2 supercomplex phosphorylates AKT in insulin signaling and glucose homeostasis." - pmids: - - "34551282" - - text: Dual blockade of macropinocytosis and asparagine bioavailability shows synergistic anti-tumor effects on KRAS-mutant colorectal cancer. - pmids: - - "34543685" - - text: Dysregulated KRAS gene-signaling axis and abnormal chromatin remodeling drive therapeutic resistance in heterogeneous-sized circulating tumor cells in gastric cancer patients. - pmids: - - "34126192" - - text: KRAS-dependent cancer cells promote survival by producing exosomes enriched in Survivin. - pmids: - - "34111513" - - text: ANGPTL4 accelerates KRAS(G12D)-Induced acinar to ductal metaplasia and pancreatic carcinogenesis. - pmids: - - "34311032" - - text: KRAS phosphorylation regulates cell polarization and tumorigenic properties in colorectal cancer. - pmids: - - "34333552" - - text: Regulation of KRAS protein expression by miR-544a and KRAS-LCS6 polymorphism in wild-type KRAS sporadic colon adenocarcinoma. - pmids: - - "34235620" - - text: Malfeasance of KRAS mutations in carcinogenesis. - pmids: - - "33709341" - - text: Oncogenic KRAS drives radioresistance through upregulation of NRF2-53BP1-mediated non-homologous end-joining repair. - pmids: - - "34606602" - - text: Prognostic Value of KRAS Gene Mutation on Survival of Patients with Peritoneal Metastases of Colorectal Adenocarcinoma. - pmids: - - "34557315" - - text: Oncogenic KRAS creates an aspartate metabolism signature in colorectal cancer cells. - pmids: - - "34227245" - - text: Antipsychotic phenothiazine drugs bind to KRAS in vitro. - pmids: - - "34176062" - - text: Association analysis of miRNA-related genetic polymorphisms in miR-143/145 and KRAS with colorectal cancer susceptibility and survival. - pmids: - - "33825830" - - text: Luteolin and its derivative apigenin suppress the inducible PD-L1 expression to improve anti-tumor immunity in KRAS-mutant lung cancer. - pmids: - - "34052328" - - text: Clinicopathological characteristics and mutational profile of KRAS and NRAS in Tunisian patients with sporadic colorectal cancer - pmids: - - "32892548" - - text: The Q61H mutation decouples KRAS from upstream regulation and renders cancer cells resistant to SHP2 inhibitors. - pmids: - - "34725361" - - text: Searching for treatments for non-G12C-KRAS mutant cancers. - pmids: - - "33859342" - - text: Small-Molecule Inhibitors and Degraders Targeting KRAS-Driven Cancers. - pmids: - - "34830024" - - text: The KRAS-regulated kinome identifies WEE1 and ERK coinhibition as a potential therapeutic strategy in KRAS-mutant pancreatic cancer. - pmids: - - "34688654" - - text: RAS interaction with Sin1 is dispensable for mTORC2 assembly and activity. - pmids: - - "34380736" - - text: FAK-targeting PROTAC demonstrates enhanced antitumor activity against KRAS mutant non-small cell lung cancer. - pmids: - - "34648846" - - text: "Circulating tumour cells and cell-free DNA as a prognostic factor in metastatic colorectal cancer: the OMITERC prospective study." - pmids: - - "33953347" - - text: Impact of KRAS mutation status on the efficacy of immunotherapy in lung cancer brain metastases. - pmids: - - "34518623" - - text: Discovery of a novel and a rare Kristen rat sarcoma viral oncogene homolog (KRAS) gene mutation in colorectal cancer patients. - pmids: - - "34369256" - - text: ZC3HAV1 promotes the proliferation and metastasis via regulating KRAS in pancreatic cancer. - pmids: - - "34319912" - - text: EndoBind detects endogenous protein-protein interactions in real time. - pmids: - - "34526658" - - text: "Expression profiles of miR-196, miR-132, miR-146a, and miR-134 in human colorectal cancer tissues in accordance with their clinical significance : Comparison regarding KRAS mutation." - pmids: - - "34463887" - - text: Oncogenic KRAS engages an RSK1/NF1 pathway to inhibit wild-type RAS signaling in pancreatic cancer. - pmids: - - "34021083" - - text: A structural model of a Ras-Raf signalosome. - pmids: - - "34625747" - - text: Irinotecan and vandetanib create synergies for treatment of pancreatic cancer patients with concomitant TP53 and KRAS mutations. - pmids: - - "32743640" - - text: The Genomic Landscape of SMARCA4 Alterations and Associations with Outcomes in Patients with Lung Cancer. - pmids: - - "32709715" - - text: "SMARCA4 mutations in KRAS-mutant lung adenocarcinoma: a multi-cohort analysis." - pmids: - - "33107184" - - text: Epithelial-to-Mesenchymal Transition is a Cause of Both Intrinsic and Acquired Resistance to KRAS G12C Inhibitor in KRAS G12C-Mutant Non-Small Cell Lung Cancer. - pmids: - - "32900796" - - text: Adenoid ameloblastoma with dentinoid is molecularly different from ameloblastomas and adenomatoid odontogenic tumors. - pmids: - - "34549835" - - text: "PD-L1 expression, EGFR and KRAS mutations and survival among stage III unresected non-small cell lung cancer patients: a Danish cohort study." - pmids: - - "34413420" - - text: Predictive value of KRAS mutation and excision repair cross-complementing 1 (ERCC1) protein overexpression in patients with colorectal cancer administered FOLFOX regimen. - pmids: - - "33468383" - - text: KRAS G12V mutation upregulates PD-L1 expression via TGF-beta/EMT signaling pathway in human non-small-cell lung cancer. - pmids: - - "33325140" - - text: Dynamic Regulation of Expression of KRAS and Its Effectors Determines the Ability to Initiate Tumorigenesis in Pancreatic Acinar Cells. - pmids: - - "33602788" - - text: Targeting the DNA replication stress phenotype of KRAS mutant cancer cells. - pmids: - - "33574444" - - text: "Recurrent KRAS, KIT and SF3B1 mutations in melanoma of the female genital tract." - pmids: - - "34102999" - - text: Calmodulin disrupts plasma membrane localization of farnesylated KRAS4b by sequestering its lipid moiety. - pmids: - - "32234958" - - text: "Complete Screening of Exons 2, 3, and 4 of KRAS and NRAS Genes Reveals a Higher Number of Clinically Relevant Mutations than Food and Drug Administration Quantitative Polymerase Chain Reaction-Based Commercial Kits." - pmids: - - "33053566" - - text: Blocking EGFR palmitoylation suppresses PI3K signaling and mutant KRAS lung tumorigenesis. - pmids: - - "32127496" - - text: Evaluation of KRAS Concomitant Mutations in Advanced Lung Adenocarcinoma Patients. - pmids: - - "34684076" - - text: Highlights on the Role of KRAS Mutations in Reshaping the Microenvironment of Pancreatic Adenocarcinoma. - pmids: - - "34638560" - - text: YTHDF1 Promotes Cyclin B1 Translation through m(6)A Modulation and Contributes to the Poor Prognosis of Lung Adenocarcinoma with KRAS/TP53 Co-Mutation. - pmids: - - "34359836" - - text: The Interleukin 22 Pathway Interacts with Mutant KRAS to Promote Poor Prognosis in Colon Cancer. - pmids: - - "32430479" - - text: "The Prognostic Impact of KRAS G12C Mutation in Patients with Metastatic Colorectal Cancer: A Multicenter Retrospective Observational Study." - pmids: - - "34232546" - - text: True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature. - pmids: - - "33744389" - - text: Analysis of KRAS mutations in circulating tumor DNA and colorectal cancer tissue. - pmids: - - "32876508" - - text: "Reevaluating the prognostic value of RAS mutation status in patients with resected liver metastases from colorectal cancer: A systematic review and meta-analysis." - pmids: - - "34115442" - - text: Suppression of m6A mRNA modification by DNA hypermethylated ALKBH5 aggravates the oncological behavior of KRAS mutation/LKB1 loss lung cancer. - pmids: - - "34016959" - - text: The G protein signaling regulator RGS3 enhances the GTPase activity of KRAS. - pmids: - - "34618566" - - text: Differential substrate use in EGF- and oncogenic KRAS-stimulated human mammary epithelial cells. - pmids: - - "33811729" - - text: "Mutation status and prognostic value of KRAS and NRAS mutations in Moroccan colon cancer patients: A first report." - pmids: - - "33784337" - - text: Diffusion-based determination of protein homodimerization on reconstituted membrane surfaces. - pmids: - - "33408000" - - text: Comprehensive genomic profiling reveals ubiquitous KRAS mutations and frequent PIK3CA mutations in ovarian seromucinous borderline tumor. - pmids: - - "32616873" - - text: Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity. - pmids: - - "34504076" - - text: KRAS expression is a prognostic indicator and associated with immune infiltration in breast cancer. - pmids: - - "33067762" - - text: RAF1 kinase activity is dispensable for KRAS/p53 mutant lung tumor progression. - pmids: - - "33513349" - - text: Oncogenic mutation or overexpression of oncogenic KRAS or BRAF is not sufficient to confer oncogene addiction. - pmids: - - "33793658" - - text: Eicosapentaenoic Acid Inhibits KRAS Mutant Pancreatic Cancer Cell Growth by Suppressing Hepassocin Expression and STAT3 Phosphorylation. - pmids: - - "33801246" - - text: Loss of Jag1 cooperates with oncogenic Kras to induce pancreatic cystic neoplasms. - pmids: - - "33268505" - - text: Virtual Fluorescence Color Channels by Selective Photobleaching in Digital PCR Applied to the Quantification of KRAS Point Mutations. - pmids: - - "34279918" - - text: Clinicopathological factors associated with tumour-specific mutation detection in plasma of patients with RAS-mutated or BRAF-mutated metastatic colorectal cancer. - pmids: - - "33961700" - - text: "Mutation Status and Prognostic Value of KRAS and BRAF in Southeast Iranian Colorectal Cancer Patients: First Report from Southeast of Iran." - pmids: - - "32495109" - - text: "KRAS G12C Metastatic Colorectal Cancer: Specific Features of a New Emerging Target Population." - pmids: - - "32605718" - - text: BCL6 confers KRAS-mutant non-small-cell lung cancer resistance to BET inhibitors. - pmids: - - "33393503" - - text: ZNF768 links oncogenic RAS to cellular senescence. - pmids: - - "34404770" - - text: Discoveries in the redox regulation of KRAS. - pmids: - - "33309959" - - text: Clinical significance of HRAS and KRAS genes expression in patients with non-small-cell lung cancer - preliminary findings. - pmids: - - "33549031" - - text: Autophagy-dependent ferroptosis drives tumor-associated macrophage polarization via release and uptake of oncogenic KRAS protein. - pmids: - - "31920150" - - text: Impact of K-Ras Over-expression in Laryngeal Squamous Cell Carcinoma. - pmids: - - "33910843" - - text: Oncogenic KRAS-Driven Metabolic Reprogramming in Pancreatic Cancer Cells Utilizes Cytokines from the Tumor Microenvironment. - pmids: - - "32046984" - - text: "Prognostic Impact of KRAS G12C Mutation in Patients With NSCLC: Results From the European Thoracic Oncology Platform Lungscape Project." - pmids: - - "33647504" - - text: Identification of Radil as a Ras binding partner and putative activator. - pmids: - - "33482197" - - text: Preoperative detection of KRAS mutated circulating tumor DNA is an independent risk factor for recurrence in colorectal cancer. - pmids: - - "33432066" - - text: The integrated stress response is tumorigenic and constitutes a therapeutic liability in KRAS-driven lung cancer. - pmids: - - "34330898" - - text: Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations. - pmids: - - "32799314" - - text: Discernment between candidate mechanisms for KRAS G13D colorectal cancer sensitivity to EGFR inhibitors. - pmids: - - "33153459" - - text: Oncogenic mutant RAS signaling activity is rescaled by the ERK/MAPK pathway. - pmids: - - "33073539" - - text: Syndecan-1 and KRAS Gene Expression Signature Associates With Patient Survival in Pancreatic Cancer. - pmids: - - "32898003" - - text: AMPK activation overcomes anti-EGFR antibody resistance induced by KRAS mutation in colorectal cancer. - pmids: - - "32703218" - - text: "The Prognostic Impact of Primary Tumor Site Differs According to the KRAS Mutational Status: A Study By the International Genetic Consortium for Colorectal Liver Metastasis." - pmids: - - "31389831" - - text: Biochemical and functional characterization of mutant KRAS epitopes validates this oncoprotein for immunological targeting. - pmids: - - "34272369" - - text: Real world outcomes in KRAS G12C mutation positive non-small cell lung cancer. - pmids: - - "32619782" - - text: Frequency of KRAS p.Gly12Cys Mutation in Brazilian Patients With Lung Cancer. - pmids: - - "33956502" - - text: PRMT1 enhances oncogenic arginine methylation of NONO in colorectal cancer. - pmids: - - "33420374" - - text: LINC00514 promotes gastric cancer cell growth and EMT progression via miR-204-3p/KRAS. - pmids: - - "33888645" - - text: KRAS mutations are negatively correlated with immunity in colon cancer. - pmids: - - "33254149" - - text: KRAS G12D mutation predicts lower TMB and drives immune suppression in lung adenocarcinoma. - pmids: - - "32956987" - - text: Targeting KRAS4A splicing through the RBM39/DCAF15 pathway inhibits cancer stem cells. - pmids: - - "34257283" - - text: Cell-permeable CaaX-peptides affect K-Ras downstream signaling and promote cell death in cancer cells. - pmids: - - "33112492" - - text: Detection of Somatic Mutations with ddPCR from Liquid Biopsy of Colorectal Cancer Patients. - pmids: - - "33669856" - - text: "Analysis of EGFR, KRAS, and PIK3CA gene mutation rates and clinical distribution in patients with different types of lung cancer." - pmids: - - "34217313" - - text: A novel prenyl-polybasic domain code determines lipid-binding specificity of the K-Ras membrane anchor. - pmids: - - "29239694" - - text: Oncogenic tuftelin 1 as a potential molecular-targeted for inhibiting hepatocellular carcinoma growth. - pmids: - - "34163115" - - text: RAS ubiquitylation modulates effector interactions. - pmids: - - "29185849" - - text: "Clinical Effect of Driver Mutations of KRAS, CDKN2A/P16, TP53, and SMAD4 in Pancreatic Cancer: A Meta-Analysis." - pmids: - - "33347393" - - text: Prognostic impact of KRAS mutation status for patients with stage IV adenocarcinoma of the lung treated with first-line pembrolizumab monotherapy. - pmids: - - "33838467" - - text: Acquired Resistance to KRAS(G12C) Inhibition in Cancer. - pmids: - - "34161704" - - text: Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing. - pmids: - - "31992579" - - text: Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity. - pmids: - - "31534204" - - text: KRAS mutation and abnormal expression of Cripto-1 as two potential candidate biomarkers for detection of colorectal cancer development. - pmids: - - "31692030" - - text: Association of Rs61764370 polymorphism within let-7 microRNA-binding site with lung cancer in Iranian population. - pmids: - - "33402978" - - text: MiR-16 inhibits proliferation of cervical cancer cells by regulating KRAS. - pmids: - - "33155198" - - text: Frequent KRAS and HRAS mutations in squamous cell papillomas of the head and neck. - pmids: - - "31960612" - - text: Atypical Mesonephric Hyperplasia of the Uterus Harbors Pathogenic Mutation of Kirsten Rat Sarcoma 2 Viral Oncogene Homolog (KRAS) and Gain of Chromosome 1q. - pmids: - - "33099482" - - text: Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling. - pmids: - - "33795873" - - text: Noninvasive KRAS mutation estimation in colorectal cancer using a deep learning method based on CT imaging. - pmids: - - "32487083" - - text: Oncogenic Ras Disrupts Epithelial Integrity by Activating the Transmembrane Serine Protease Hepsin. - pmids: - - "33461973" - - text: Voltage-gated sodium channel Nav1.5 promotes tumor progression and enhances chemosensitivity to 5-fluorouracil in colorectal cancer. - pmids: - - "33338532" - - text: Melatonin Downregulates PD-L1 Expression and Modulates Tumor Immunity in KRAS-Mutant Non-Small Cell Lung Cancer. - pmids: - - "34073318" - - text: KRAS and EGFR Mutations Differentially Alter ABC Drug Transporter Expression in Cisplatin-Resistant Non-Small Cell Lung Cancer. - pmids: - - "34065402" - - text: Normal Mode Analysis of KRas4B Reveals Partner Specific Dynamics. - pmids: - - "33978412" - - text: Mild Oxidative Stress Reduces NRF2 SUMOylation to Promote Kras/Lkb1/Keap1 Mutant Lung Adenocarcinoma Cell Migration and Invasion. - pmids: - - "33299528" - - text: "Comparison of Biocartis IDYLLA cartridge assay with Qiagen GeneReader NGS for detection of targetable mutations in EGFR, KRAS/NRAS, and BRAF genes." - pmids: - - "33773991" - - text: KRAS(G12C) Can Either Promote or Impair Cap-Dependent Translation in Two Different Lung Adenocarcinoma Cell Lines. - pmids: - - "33672357" - - text: Dysregulated Kras/YY1/ZNF322A/Shh transcriptional axis enhances neo-angiogenesis to promote lung cancer progression. - pmids: - - "32929330" - - text: A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease. - pmids: - - "32591603" - - text: Somatic Gain of KRAS Function in the Endothelium Is Sufficient to Cause Vascular Malformations That Require MEK but Not PI3K Signaling. - pmids: - - "32552404" - - text: Promoter hypomethylation as potential confounder of Ras gene overexpression and their clinical significance in subsets of urothelial carcinoma of bladder. - pmids: - - "33620658" - - text: Mutation-Specific and Common Phosphotyrosine Signatures of KRAS G12D and G13D Alleles. - pmids: - - "32986951" - - text: "The role of circulating tumor cells and K-ras mutations in patients with locally advanced rectal cancer: a prospective study." - pmids: - - "33174084" - - text: "RALB GTPase: a critical regulator of DR5 expression and TRAIL sensitivity in KRAS mutant colorectal cancer." - pmids: - - "33122623" - - text: "Integrin-linked kinase (ILK) regulates KRAS, IPP complex and Ras suppressor-1 (RSU1) promoting lung adenocarcinoma progression and poor survival." - pmids: - - "32592097" - - text: Alterations in driver genes are predictive of survival in patients with resected pancreatic ductal adenocarcinoma. - pmids: - - "32573775" - - text: Association between C-myc and K-ras gene polymorphisms and non-Hodgkin lymphoma. - pmids: - - "32373977" - - text: Tectal glioma harbors high rates of KRAS G12R and concomitant KRAS and BRAF alterations. - pmids: - - "31822998" - - text: Combinative treatment of beta-elemene and cetuximab is sensitive to KRAS mutant colorectal cancer cells by inducing ferroptosis and inhibiting epithelial-mesenchymal transformation. - pmids: - - "32308771" - - text: Differential effects of KRAS mutational status on long-term survival according to the timing of colorectal liver metastases. - pmids: - - "33858364" - - text: Biological significance of KRAS mutant allele expression in ovarian endometriosis. - pmids: - - "33675098" - - text: Molecular profile of KRAS G12C-mutant colorectal and non-small-cell lung cancer. - pmids: - - "33632153" - - text: "KRAS mutation as a prognostic factor and predictive factor in advanced/metastatic non-small cell lung cancer: A systematic literature review and meta-analysis." - pmids: - - "32750661" - - text: KRAS Mutation-Responsive miR-139-5p inhibits Colorectal Cancer Progression and is repressed by Wnt Signaling. - pmids: - - "32641995" - - text: RAS and TP53 can predict survival in adults with T-cell lymphoblastic leukemia treated with hyper-CVAD. - pmids: - - "31804006" - - text: "Prevalence of RAS and BRAF mutations in metastatic colorectal cancer patients by tumor sidedness: A systematic review and meta-analysis." - pmids: - - "31856410" - - text: The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence. - pmids: - - "33024263" - - text: A KRAS-responsive long non-coding RNA controls microRNA processing. - pmids: - - "33795683" - - text: Kras mutation correlating with circulating regulatory T cells predicts the prognosis of advanced pancreatic cancer patients. - pmids: - - "32017404" - - text: "The Impact of KRAS Mutation on the Presentation and Prognosis of Non-Metastatic Colon Cancer: an Analysis from the National Cancer Database." - pmids: - - "32128676" - - text: Membrane interactions of the globular domain and the hypervariable region of KRAS4b define its unique diffusion behavior. - pmids: - - "31958057" - - text: Functional dissection of the KRAS G12C mutation by comparison among multiple oncogenic driver mutations in a lung cancer cell line model. - pmids: - - "33302159" - - text: Plasma clearance of RAS mutation under therapeutic pressure is a rare event in metastatic colorectal cancer. - pmids: - - "31472013" - - text: Pulmonary Inflammation and KRAS Mutation in Lung Cancer. - pmids: - - "33788188" - - text: The origins and genetic interactions of KRAS mutations are allele- and tissue-specific. - pmids: - - "33753749" - - text: "KRAS Promoter G-Quadruplexes from Sequences of Different Length: A Physicochemical Study." - pmids: - - "33466280" - - text: Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei. - pmids: - - "31997427" - - text: "A PCR-Based Approach for Driver Mutation Analysis of EGFR, KRAS, and BRAF Genes in Lung Cancer Tissue Sections." - pmids: - - "33683689" - - text: Circulating tumour-derived KRAS mutations in pancreatic cancer cases are predominantly carried by very short fragments of cell-free DNA. - pmids: - - "32249202" - - text: "Targeting KRAS-Mutant Non-Small-Cell Lung Cancer: One Mutation at a Time, With a Focus on KRAS G12C Mutations." - pmids: - - "33104438" - - text: Reduced replication origin licensing selectively kills KRAS-mutant colorectal cancer cells via mitotic catastrophe. - pmids: - - "32612138" - - text: KRAS drives immune evasion in a genetic model of pancreatic cancer. - pmids: - - "33674596" - - text: Clinical features and KRAS mutation in colorectal cancer with bone metastasis. - pmids: - - "33273596" - - text: Metabolic regulation of EGFR effector and feedback signaling in pancreatic cancer cells requires K-Ras. - pmids: - - "32972751" - - text: "KRAS gene silencing inhibits the activation of PI3K-Akt-mTOR signaling pathway to regulate breast cancer cell epithelial-mesenchymal transition, proliferation and apoptosis." - pmids: - - "32271426" - - text: KRAS interaction with RAF1 RAS-binding domain and cysteine-rich domain provides insights into RAS-mediated RAF activation. - pmids: - - "33608534" - - text: "The interplay of KRAS mutational status with tumor laterality in non-metastatic colorectal cancer: An international, multi-institutional study in patients with known KRAS, BRAF, and MSI status." - pmids: - - "33368279" - - text: Ubiquitin-binding associated protein 2 regulates KRAS activation and macropinocytosis in pancreatic cancer. - pmids: - - "32692445" - - text: Altered RNA Splicing by Mutant p53 Activates Oncogenic RAS Signaling in Pancreatic Cancer. - pmids: - - "32559497" - - text: Neuron type-specific expression of a mutant KRAS impairs hippocampal-dependent learning and memory. - pmids: - - "33082413" - - text: KRAS K104 modification affects the KRAS(G12D)-GEF interaction and mediates cell growth and motility. - pmids: - - "33060649" - - text: KRAS mutations in uterine endometrium are associated with gravidity and parity. - pmids: - - "32393751" - - text: Radioresistance of KRAS/TP53-mutated lung cancer can be overcome by radiation dose escalation or EGFR tyrosine kinase inhibition in vivo. - pmids: - - "31359406" - - text: SREBP1 regulates mitochondrial metabolism in oncogenic KRAS expressing NSCLC. - pmids: - - "32568455" - - text: ZEB1 and oncogenic Ras constitute a regulatory switch for stimulus-dependent E-cadherin downregulation. - pmids: - - "33068045" - - text: "Beyond the Genomic Mutation: Rethinking the Molecular Biomarkers of K-RAS Dependency in Pancreatic Cancers." - pmids: - - "32708716" - - text: Amplification of KRAS and its heterogeneity in non-Asian gastric adenocarcinomas. - pmids: - - "32571252" - - text: "Role of Poly [ADP-ribose] Polymerase 1 in Activating the Kirsten ras (KRAS) Gene in Response to Oxidative Stress." - pmids: - - "32872305" - - text: Anti-Metastatic Activity of an Anti-EGFR Monoclonal Antibody against Metastatic Colorectal Cancer with KRAS p.G13D Mutation. - pmids: - - "32839411" - - text: Early KRAS oncogenic driver mutations in nonmucinous tissue of congenital pulmonary airway malformations as an indicator of potential malignant behavior. - pmids: - - "32681943" - - text: "Outcome of patients with colorectal cancer undergoing lung metastases resection: a single-institution retrospective analysis." - pmids: - - "32597321" - - text: Active Compound of Pharbitis Semen (Pharbitis nil Seeds) Suppressed KRAS-Driven Colorectal Cancer and Restored Muscle Cell Function during Cancer Progression. - pmids: - - "32580297" - - text: Early assessment of KRAS mutation in cfDNA correlates with risk of progression and death in advanced non-small-cell lung cancer. - pmids: - - "32376889" - - text: Does KRAS mutation status impact the risk of local recurrence after R1 vascular resection for colorectal liver metastasis? An observational cohort study. - pmids: - - "31839435" - - text: "Impact of KRAS mutation status on outcomes of metastatic colorectal cancer treated with anti-angiogenic agents: a meta-analysis." - pmids: - - "31838964" - - text: "IKKbeta Kinase Promotes Stemness, Migration, and Invasion in KRAS-Driven Lung Adenocarcinoma Cells." - pmids: - - "32823550" - - text: "Impact of RAS mutations on the immune infiltrate of colorectal liver metastases: A preliminary study." - pmids: - - "32108374" - - text: Atypical KRAS(G12R) Mutant Is Impaired in PI3K Signaling and Macropinocytosis in Pancreatic Cancer. - pmids: - - "31649109" - - text: TPL2 enforces RAS-induced inflammatory signaling and is activated by point mutations. - pmids: - - "32573499" - - text: "Metabolic characterization of colorectal cancer cells harbouring different KRAS mutations in codon 12, 13, 61 and 146 using human SW48 isogenic cell lines." - pmids: - - "32300895" - - text: "Associations between nutritional factors and KRAS mutations in colorectal cancer: a systematic review." - pmids: - - "32723394" - - text: "Colorectal carcinomas with mucinous differentiation are associated with high frequent mutation of KRAS or BRAF mutations, irrespective of quantity of mucinous component." - pmids: - - "32384877" - - text: Genetic Changes of P(53) and Kras in Gallbladder Carcinoma in Kumaon Region of Uttarakhand. - pmids: - - "31396884" - - text: Scaffold association factor B (SAFB) is required for expression of prenyltransferases and RAS membrane association. - pmids: - - "33257571" - - text: PLCgamma1 suppression promotes the adaptation of KRAS-mutant lung adenocarcinomas to hypoxia. - pmids: - - "33077911" - - text: KRAS mutations by digital PCR in circulating tumor cells isolated from the mesenteric vein are associated with residual disease and overall survival in resected colorectal cancer patients. - pmids: - - "32088737" - - text: Recurrent KRAS mutations identified in papillary renal neoplasm with reverse polarity-a comparative study with papillary renal cell carcinoma. - pmids: - - "31953522" - - text: PAWI-2 overcomes tumor stemness and drug resistance via cell cycle arrest in integrin beta3-KRAS-dependent pancreatic cancer stem cells. - pmids: - - "32514015" - - text: The prevalence and prognostic value of KRAS co-mutation subtypes in Chinese advanced non-small cell lung cancer patients. - pmids: - - "31709742" - - text: RAS/RAF mutations and their associations with epigenetic alterations for distinct pathways in Vietnamese colorectal cancer. - pmids: - - "32089414" - - text: "KRAS and BRAF Mutations as Prognostic and Predictive Biomarkers for Standard Chemotherapy Response in Metastatic Colorectal Cancer: A Single Institutional Study." - pmids: - - "31952366" - - text: KRAS SNPs are related to colorectal cancer susceptibility and survival in Chinese people. - pmids: - - "31729889" - - text: KRAS(Q61H) Preferentially Signals through MAPK in a RAF Dimer-Dependent Manner in Non-Small Cell Lung Cancer. - pmids: - - "32605999" - - text: Genome-wide DNA methylation analysis of KRAS mutant cell lines. - pmids: - - "32576853" - - text: Isoprenylcysteine carboxylmethyltransferase is required for the impact of mutant KRAS on TAZ protein level and cancer cell self-renewal. - pmids: - - "32561852" - - text: RAS internal tandem duplication disrupts GTPase-activating protein (GAP) binding to activate oncogenic signaling. - pmids: - - "32393580" - - text: The hexosamine biosynthesis pathway is a targetable liability in KRAS/LKB1 mutant lung cancer. - pmids: - - "33257855" - - text: "Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing." - pmids: - - "33237900" - - text: KRAS-regulated glutamine metabolism requires UCP2-mediated aspartate transport to support pancreatic cancer growth. - pmids: - - "33230296" - - text: Coaltered Ras/B-raf and TP53 Is Associated with Extremes of Survivorship and Distinct Patterns of Metastasis in Patients with Metastatic Colorectal Cancer. - pmids: - - "31719050" - - text: Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium. - pmids: - - "31926049" - - text: IMPACT OF KRAS MUTATIONS IN CLINICAL FEATURES IN COLORECTAL CANCER. - pmids: - - "33331426" - - text: Aurora A kinase and its activator TPX2 are potential therapeutic targets in KRAS-induced pancreatic cancer. - pmids: - - "32193808" - - text: Suppression of the SLC7A11/glutathione axis causes synthetic lethality in KRAS-mutant lung adenocarcinoma. - pmids: - - "31874110" - - text: The Mir181ab1 cluster promotes KRAS-driven oncogenesis and progression in lung and pancreas. - pmids: - - "31874105" - - text: Docosahexaenoic acid inhibits the proliferation of Kras/TP53 double mutant pancreatic ductal adenocarcinoma cells through modulation of glutathione level and suppression of nucleotide synthesis. - pmids: - - "33137095" - - text: The cytochrome P450 enzyme CYP24A1 increases proliferation of mutant KRAS-dependent lung adenocarcinoma independent of its catalytic activity. - pmids: - - "32165494" - - text: KRAS mutations in brown tumor of the jaws in hyperparathyroidism. - pmids: - - "32492752" - - text: KRAS Mutation Predicted More Mirometastases and Closer Resection Margins in Patients with Colorectal Cancer Liver Metastases. - pmids: - - "31720935" - - text: Cytology-based Detection of Circulating Tumour Cells in Human Pancreatic Cancer Xenograft Models With KRAS Mutation. - pmids: - - "33288571" - - text: "Influence of KRAS mutations, persistent organic pollutants, and trace elements on survival from pancreatic ductal adenocarcinoma." - pmids: - - "32791343" - - text: DRP1 promotes lactate utilization in KRAS-mutant non-small-cell lung cancer cells. - pmids: - - "32767829" - - text: KRAS mutation status concordance between the primary tumor and the corresponding metastasis in patients with rectal cancer. - pmids: - - "33002027" - - text: Preoperative prediction of perineural invasion and KRAS mutation in colon cancer using machine learning. - pmids: - - "32779023" - - text: Differential Expression of KRAS and SIRT1 in Ovarian Cancers with and Without Endometriosis. - pmids: - - "32046380" - - text: Mortalin/HSPA9 targeting selectively induces KRAS tumor cell death by perturbing mitochondrial membrane permeability. - pmids: - - "32291414" - - text: "Loss of heterozygosity for Kras(G12D) promotes REDD1-dependent, non-canonical glutamine metabolism in pancreatic ductal adenocarcinoma." - pmids: - - "32279996" - - text: The proprotein convertase furin is a pro-oncogenic driver in KRAS and BRAF driven colorectal cancer. - pmids: - - "32139876" - - text: Cell-type specific tumorigenesis with Ras oncogenes in human lung epithelial cells. - pmids: - - "32111352" - - text: "HPV mediated carcinogenesis: the role of k-ras mutations." - pmids: - - "32277691" - - text: Actionable Mutation Profiles of Non-Small Cell Lung Cancer patients from Vietnamese population. - pmids: - - "32066856" - - text: Uncovering a membrane-distal conformation of KRAS available to recruit RAF to the plasma membrane. - pmids: - - "32913056" - - text: Analysis of circulating cell-free DNA identifies KRAS copy number gain and mutation as a novel prognostic marker in Pancreatic cancer. - pmids: - - "31406261" - - text: Structures of N-terminally processed KRAS provide insight into the role of N-acetylation. - pmids: - - "31324887" - - text: "Prognostic Value of BRAF and KRAS Mutation in Relation to Colorectal Cancer Survival in Iranian Patients: Correlated to Microsatellite Instability." - pmids: - - "30635874" - - text: "Multiclonal colorectal cancers with divergent histomorphological features and RAS mutations: one cancer or separate cancers?" - pmids: - - "32171651" - - text: "Activating KRAS, NRAS, and BRAF mutants enhance proteasome capacity and reduce endoplasmic reticulum stress in multiple myeloma." - pmids: - - "32747568" - - text: Relationship between KRAS mutation and diffusion weighted imaging in colorectal liver metastases; Preliminary study. - pmids: - - "32109834" - - text: Prognostic and predictive value of KRAS mutation number in metastatic colorectal cancer. - pmids: - - "32991469" - - text: The GTPase KRAS suppresses the p53 tumor suppressor by activating the NRF2-regulated antioxidant defense system in cancer cells. - pmids: - - "32001619" - - text: Association of KRAS mutation with tumor deposit status and overall survival of colorectal cancer. - pmids: - - "32394229" - - text: Undermining Glutaminolysis Bolsters Chemotherapy While NRF2 Promotes Chemoresistance in KRAS-Driven Pancreatic Cancers. - pmids: - - "31911550" - - text: "Long noncoding RNA SNHG14 accelerates cell proliferation, migration, invasion and suppresses apoptosis in colorectal cancer cells by targeting miR-944/KRAS axis through PI3K/AKT pathway." - pmids: - - "31799655" - - text: "Diffusion kurtosis imaging-derived histogram metrics for prediction of KRAS mutation in rectal adenocarcinoma: Preliminary findings." - pmids: - - "30637861" - - text: Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRAS. - pmids: - - "31160609" - - text: Circulating Tumor DNA in KRAS positive colorectal cancer patients as a prognostic factor - a systematic review and meta-analysis. - pmids: - - "32763752" - - text: "Simplified molecular classification of lung adenocarcinomas based on EGFR, KRAS, and TP53 mutations." - pmids: - - "32005111" - - text: "BRAF, KRAS and PIK3CA Mutation and Sensitivity to Trastuzumab in Breast Cancer Cell Line Model." - pmids: - - "31983154" - - text: Development and validation of a MRI-based radiomics signature for prediction of KRAS mutation in rectal cancer. - pmids: - - "31942672" - - text: The KRAS-variant and its impact on normal breast epithelial cell biology. - pmids: - - "30932013" - - text: An albuminbinding domain and targeting peptidebased recombinant protein and its enediyneintegrated analogue exhibit directional delivery and potent inhibitory activity on pancreatic cancer with Kras mutation. - pmids: - - "32020213" - - text: "Aberrant epigenetic inactivation of RASSF1A and MGMT gene and genetic mutations of KRAS, cKIT and BRAF in Indian testicular germ cell tumours." - pmids: - - "31653608" - - text: "Mutation Status of RAS, TP53, and SMAD4 is Superior to Mutation Status of RAS Alone for Predicting Prognosis after Resection of Colorectal Liver Metastases." - pmids: - - "31221662" - - text: Rectal Aberrant Crypt Foci in Humans Are Not Surrogate Markers for Colorectal Cancer Risk. - pmids: - - "31136360" - - text: "KRAS, NRAS, and BRAF mutation prevalence, clinicopathological association, and their application in a predictive model in Mexican patients with metastatic colorectal cancer: A retrospective cohort study." - pmids: - - "32628708" - - text: Pancreatic stellate cells activated by mutant KRAS-mediated PAI-1 upregulation foster pancreatic cancer progression via IL-8. - pmids: - - "31695760" - - text: Mutational profile of Brazilian lung adenocarcinoma unveils association of EGFR mutations with high Asian ancestry and independent prognostic role of KRAS mutations. - pmids: - - "30824880" - - text: Copper bioavailability is a KRAS-specific vulnerability in colorectal cancer. - pmids: - - "32709883" - - text: MEK nuclear localization promotes YAP stability via sequestering beta-TrCP in KRAS mutant cancer cells. - pmids: - - "30833665" - - text: "Epidermal growth factor receptor (EGFR), KRAS, and BRAF mutations in lung adenocarcinomas: A study from India." - pmids: - - "30591192" - - text: Novel activating KRAS mutation candidates in lung adenocarcinoma. - pmids: - - "31787238" - - text: A Spontaneous Aggressive ERalpha+ Mammary Tumor Model Is Driven by Kras Activation. - pmids: - - "31390566" - - text: Weighted gene coexpression network analysis identifies hub genes related to KRAS mutant lung adenocarcinoma. - pmids: - - "32769881" - - text: Mu-KRAS attenuates Hippo signaling pathway through PKCiota to sustain the growth of pancreatic cancer. - pmids: - - "31230347" - - text: Oncogenic ERBB2 aberrations and KRAS mutations cooperate to promote pancreatic ductal adenocarcinoma progression. - pmids: - - "31046123" - - text: Multivalent assembly of KRAS with the RAS-binding and cysteine-rich domains of CRAF on the membrane. - pmids: - - "32414921" - - text: The Prognostic Impact of KRAS Mutation in Patients Having Curative Resection of Synchronous Colorectal Liver Metastases. - pmids: - - "30276588" - - text: "PCC0208023, a potent SHP2 allosteric inhibitor, imparts an antitumor effect against KRAS mutant colorectal cancer." - pmids: - - "32335126" - - text: A systems mechanism for KRAS mutant allele-specific responses to targeted therapy. - pmids: - - "31551296" - - text: MK615 Suppresses Hypoxia Tolerance by Up-regulation of E-cadherin in Colorectal Cancer Cells With Mutant KRAS. - pmids: - - "32727793" - - text: Mutant KRAS Promotes NKG2D(+) T Cell Infiltration and CD155 Dependent Immune Evasion. - pmids: - - "32727790" - - text: Long Non-coding RNA LINC01420 Contributes to Pancreatic Cancer Progression Through Targeting KRAS Proto-oncogene. - pmids: - - "31562613" - - text: Assessing pathogenic mutations in dental follicles as an attempt to identify early events in odontogenic tumours tumourigenesis. - pmids: - - "31543246" - - text: "Results present evidence that KRAS-mutant pancreatic ductal adenocarcinoma cells can channel their glucose metabolism away from the mitochondria by a previously unappreciated means: programmed mitophagy via the mediator BNIP3L/NIX. Oncogenic KRAS induces NIX expression and suppression of mitochondrial content in a MAPK pathway-dependent fashion." - pmids: - - "31263025" - - text: A subset of papillary fibroelastomas harbor pathogenic KRAS mutations. - pmids: - - "32141886" - - text: "Targeting the KRAS, p38alpha, and NF-kappaB in lung adenocarcinoma cancer cells has been reported." - pmids: - - "30656741" - - text: Patients with wtKRAS tumors appear to have the highest likelihood of experiencing a major response after preoperative chemotherapy. Codon 13 mutations were independently associated with minor pathologic response. - pmids: - - "30979646" - - text: "In patients with mutant KRAS, those in the high p53 group exhibited significantly longer OS than those in the low p53 group" - pmids: - - "31834556" - - text: "The presence of KRAS mutations in the colorectal cancer specimens, especially G12D or G13D mutations, seems to promote pulmonary metastases formation." - pmids: - - "31773354" - - text: "APEH knockdown abrogated RAS-RAF-MAPK signaling in cells expressing the constitutively active (oncogenic) mutant of KRAS (KRASG12V), and selectively inhibited the proliferation of KRAS-transformed pancreatic cancer cells. Taken together, these results identify APEH as a novel drug target for a potential anti-KRAS therapeutic." - pmids: - - "31266814" - - text: "KRAS mutations were identified in codon 12 and 13, and include KRAS_12V, KRAS_G12S, KRAS_G12D, KRAS_G13C and KRAS_G13D were seen in Papillary thyroid carcinoma." - pmids: - - "32315324" - - text: A subset of endosalpingiotic lesions are clonal and harbour the same oncogenic driver mutations in KRAS shared with low-grade ovarianserous tumours. - pmids: - - "31576556" - - text: analysis of genetic interactions with a KRAS(G12C) inhibitor in cellular models of KRAS(G12C) mutant lung and pancreatic cancer using CRISPR interference - pmids: - - "31138768" - - text: "inhibition of the Golgi-localized PI4-kinases (PI4Ks) translocates K-Ras, and PtdSer to mitochondria and endomembranes, respectively." - pmids: - - "31331963" - - text: "\"intramuscular hemangioma capillary type\" (IHCT) lesions are phenotypically similar to arteriovenous malformation (AVM) and contain the same somatic MAP2K1 or KRAS mutations, suggesting that IHCT is on the AVM spectrum. We propose calling this lesion \"intramuscular fast-flow vascular anomaly." - pmids: - - "31486960" - - text: "have shown that targeting ORP5, ORP8, or PI4KIIIalpha depletes the PM of PtdSer resulting in mislocalization of KRAS and reduced nanoclustering of KRAS that remains PM bound in all cell lines tested. In turn, these perturbations of KRAS PM interactions lead to reduced proliferative and tumorigenic capacity of KRAS-mutant cancer cells." - pmids: - - "31451509" - - text: In vitro cell models differ in the basal transcriptional profile of the KRAS signalling pathway. - pmids: - - "31375828" - - text: "The dynamics of the KRAS4b G-domain at the bilayer surface are altered in the presence of phosphatidylinositol 4,5-bisphosphate (PIP2), due to the formation of long-lived salt bridges with basic residues on the G-domain." - pmids: - - "31339036" - - text: "Results provide evidence that KRAS activation in gastric adenocarcinoma cells stimulates EMT and transition to cancer stem-like cells, thus promoting metastasis" - pmids: - - "31217166" - - text: the presence of concomitant EGFR mutation can affect the tyrosine kinase inhibitors response of KRAS-mutated cells. - pmids: - - "32130260" - - text: These results reveal novel insights into to how KRAS4B may organize on membranes. - pmids: - - "31330153" - - text: The combination of KRAS and SMAD4 mutations in DNA obtained from formalin-fixed paraffin-embedded tissues is an independent poor prognostic factor in pancreatic ductal adenocarcinoma - pmids: - - "32314446" - - text: "Acquired resistance, in patients with initial treatment benefit, is mainly explained by polyclonal emergence of RAS, BRAF, and EGFR mutations in circulating tumor DNA." - pmids: - - "31350822" - - text: Our analyses also revealed that this is irrespective of the presence of mutations as the correlation coefficients in the wildtype study group was similar to the patient group that had KRAS or BRAFmutations - pmids: - - "31658042" - - text: "Rs712 polymorphism T>G in the 3'-untranslated region of KRAS interrupts the interactions between let-7g and KRAS mRNA, leading to a higher cell proliferation index and reduced doubling time of thyroid nodules." - pmids: - - "31152438" - - text: "Overexpression of HAO2 by plasmid promoted lipid catabolic process, eliminated lipid accumulation, inhibited KRAS expression, controlled the proliferation, migration, and invasion activity of clear cell renal cell carcinoma (ccRCC) tumor cells." - pmids: - - "31127626" - - text: Highly sensitive digital PCR detects low abundance KRAS mutations in colorectal cancer specimens for prediction of treatment outcome in phase 2 clinical trial of panitumumab plus FOLFIRI. - pmids: - - "30840064" - - text: "Ras overactivation switches the pattern of PDIA1-dependent Rac1/Nox1 regulation, so that Ras-induced PDIA1 bypass can directly activate Rac1. PDIA1 may be a crucial regulator of redox-dependent adaptive processes related to cancer progression." - pmids: - - "30760703" - - text: These findings indicate that the rs12587 G>T polymorphism in KRAS is associated with increased Wilms tumor susceptibility; polymorphisms of NRAS did not influence the risk. - pmids: - - "30860980" - - text: GSK-J4 as a potential treatment option for cancer patients with KRAS mutations. - pmids: - - "31506334" - - text: This process occurred when Kras/Erk/ADAM17 signaling was switched on. - pmids: - - "31506332" - - text: "HMGA2 and KRAS could be translationally downregulated by the hsa-let-7d-3p, and the loss of hsa-let-7d-3p expression led to the progression of EOC related to the tumorigenesis, invasion, and metastasis." - pmids: - - "31898667" - - text: KRAS mutations occur in almost one-third of brain arteriovenous malformations - pmids: - - "31026472" - - text: Decitabine is a promising drug for cancer cells dependent on RAS signaling. - pmids: - - "31492820" - - text: Results show how membrane organization dictates membrane diffusion and trafficking of Ras and offer insight into the spatial regulation of Ras signaling. - pmids: - - "31674905" - - text: KRAS mutations and activation of the MAPK-ERK signaling pathway occur in implant-associated peripheral giant cell granuloma. - pmids: - - "31758745" - - text: RAS/TP53 co-mutation was the only factor independently associated with increased risk of recurrence for all groups with resection of colorectal liver metastasis. - pmids: - - "31054911" - - text: "we confirmed that miR-487b is a CRC suppressor that prevents the EMT process and targets MYC, SUZ12, and KRAS to inhibit the proliferation, migration and invasion of CRC cells. Meanwhile, miR-487b is negatively regulated by DNA methylation" - pmids: - - "30791232" - - text: "Cooperation between KRAS and TP53 oncogenic mutations in pancreatic ductal carcinoma activates the ARF6-AMAP1 pathway to promote tumor malignancies and evade the immune system. KRAS primarily acts to promote eIF4A/4E-dependent mRNA translation to up-regulate ARF6 and AMAP1 protein expression, whereas, TP53 facilitates ARF6 activation by platelet-derived growth factor receptor(PDGFR)." - pmids: - - "31399545" - - text: KRAS is a useful biomarker in metastatic colorectal cancer (Review) - pmids: - - "31597434" - - text: Results highlight a mechanistic connection between KRAS(A146T) and KRAS(V14I) that may have implications for the regulation of these variants. - pmids: - - "31341022" - - text: Loss of heterozygosity (LOH) was analyzed in a cohort of EGFR-mutated non-small-cell lung cancer (NSCLC) patients who were positive or negative for EGFR mutations in their cfDNA. Patients carrying KRAS mutations were also analyzed. No association between KRAS status in cfDNA and number of LOH events was found. - pmids: - - "31861832" - - text: "we report a role for MEK-driven lactate production in mTORC1 activation in KRAS-activated cells. KRAS/MEK-induced upregulation of the chicken ovalbumin upstream promoter transcriptional factor II (COUP-TFII) increases the expression of lactate dehydrogenase A (LDHA), resulting in lactate production and mTORC1 activation." - pmids: - - "30988000" - - text: A germ-line single-nucleotide polymorphism in the let-7 microRNA-binding site of the KRAS gene was not associated with sporadic endometriosis in an infertile Caucasian population - pmids: - - "31185482" - - text: The IntelliPlextrade mark KRAS G12/13 Mutation Kit demonstrates suitable specificity and sensitivity for use in clinical laboratories to determine the mutational status of KRAS codons 12 and 13. - pmids: - - "31347028" - - text: "Combining clinical factors and COX-2/C-MET/KRAS expression status, our models provided accurate prognostic information in CRC. They can be used to aid treatment decisions in clinical practice." - pmids: - - "30720004" - - text: Data suggest the mitogenic role of gastrin in activation of K-Ras protein (KRAS) during pancreatic carcinogenesis. - pmids: - - "31268978" - - text: "a direct GTP-dependent interaction between KRAS4A and hexokinase 1 (HK1) is reported, that alters the activity of the kinase, and thereby establishes that HK1 is an effector of KRAS4A" - pmids: - - "31827279" - - text: "KRAS-mutated NSCLC represents a genetically heterogeneous subgroup with a high frequency of co-occurring mutations in cancer-associated pathways, partly associated with distinct KRAS mutation subtypes." - pmids: - - "30605727" - - text: Nf1 loss promotes Kras-driven lung adenocarcinoma and results in Psat1-mediated glutamate dependence. - pmids: - - "31036704" - - text: KRAS mutation is a recurrent mechanism of primary and secondary resistance to MET tyrosine kinase inhibitors in METex14 lung cancers. - pmids: - - "30352902" - - text: "a high proportion of adenomatoid odontogenic tumors (27/38, 71%) have KRAS codon 12 mutations" - pmids: - - "30643167" - - text: BCAT2-mediated branched-chain amino acids catabolism is critical for the development of pancreatic ductal adenocarcinoma-harboring KRAS mutations. - pmids: - - "32029896" - - text: This study identified a relationship between KRAS mutation and mucinous phenotype in gastric cancer; a high level of intratumour morphological heterogeneity could reflect KRASmut heterogeneity - pmids: - - "31111275" - - text: KRas-ERK signalling promotes the onset and maintenance of uveal melanoma through regulating JMJD6-mediated H2A.X phosphorylation - pmids: - - "31736361" - - text: Study demonstrated that Kras harboring G12D mutation in the pancreas is sufficient to induce pancreatic ductal adenocarcinoma in cooperation with TGIF1 deficiency. - pmids: - - "31109321" - - text: KRAS and BRAF gene mutations correlate with various histologic features of ovarian serous borderline tumor and subsequent development of serous carcinoma. - pmids: - - "31343420" - - text: "Study found recurring KRAS mutations in 26/70 (37.1%) of adenomyosis cases. Multi-regional sequencing reveals oligoclonality in adenomyosis, with some mutations also detected in normal endometrium and/or co-occurring endometriosis. KRAS mutations are more frequent in cases of adenomyosis with co-occurring endometriosis, low progesterone receptor expression, or progestin pretreatment." - pmids: - - "31857578" - - text: "The findings strongly suggest that pathogenic hotspot KRAS, FGFR1 and NF1 mutations underlie the vast majority of non-ossifying fibroma of the bone." - pmids: - - "30549028" - - text: "KRAS mutations were the most common genetic alterations involving 22.1% of the cases and being mutually exclusive with the EGFR mutations, which were found in 12.6% of them." - pmids: - - "31711449" - - text: "Our results revealed that increased accumulation of miR143 is likely to modulate levels of KRAS protein expression at the posttranscriptional level by interacting specifically with the complementary site, and consequently inhibiting proliferation of the transfected cells." - pmids: - - "31638218" - - text: "Our results underlined that miR-425-5p might act as an oncogene to participate in the pathogenesis of KRAS-mutated CRC and contribute to increase the aggressiveness of this subcategory of CRC, controlling a complex molecular network" - pmids: - - "31673240" - - text: "Response rate (RR), progression-free survival (PFS) and overall survival (OS) were increasingly improved in patients with RAS wild-type, RAS/BRAF wild-type or quadruple (KRAS/NRAS/BRAF/PIK3CA) wild-type tumours treated with anti-EGFR, assessed by standard-of-care." - pmids: - - "30689692" - - text: "Results found KRAS exon 2 mutations accounting for 83.69% of metastatic colorectal cancer patients in Jordan. KRAS G12D was the most common one, followed by KRAS G12A and G12T. Also, 10.87% mutations in KRAS are found in exon 3 and 4." - pmids: - - "31881025" - - text: "The MRI findings of rectal cancer, especially texture features, showed an encouraging value for identifying KRAS status." - pmids: - - "31727020" - - text: "hese findings indicated that this synthetic miR-143#12 induced a marked growth inhibition by impairing K-RAS-signaling networks in vitro and in vivo." - pmids: - - "30930112" - - text: identified a fragment binder to KRas(G12D) and used (1)H (15)N transverse relaxation optimized spectroscopy (TROSY) heteronuclear single-quantum coherence (HSQC) NMR to characterize its binding site as a pocket adjacent to the switch 2 region. - pmids: - - "31399543" - - text: MAP kinase and autophagy pathways cooperate to maintain RAS mutant cancer cell survival. - pmids: - - "30709910" - - text: "data suggest that KRAS mutation is predictive of a superior response to immunotherapy. Furthermore, the lack of response of STK11 and KRAS co-mutated NSCLC patients to ICIs, is indeed negated by an additional TP53 mutation." - pmids: - - "31659111" - - text: "EGFR and KRAS mutations were found in 10.7% and 16.6% of all histologies, respectively, and in 14.9% and 21.9% of adenocarcinomas. At 4.5 years median follow-up, KRAS status was an independent negative prognostic factor for overall survival (OS, p=0.016). KRAS mutations conferred 80% increased risk of death in patients receiving first-line treatment" - pmids: - - "31659106" - - text: It was established that there is no reliable dependence of rate of KRAS gene mutation in patients with colorectal cancer in the region of their residence in Kazakhstan - pmids: - - "32119223" - - text: "Our data suggest that dysfunction of cytoplasmic KARS resulted in a decreased level of translation of the nuclear-encoded lysine-rich proteins belonging to the respiratory chain complex, thus impairing mitochondria functions." - pmids: - - "31116475" - - text: "patients undergoing surgical resection of colorectal cancer and synchronous liver metastases, m-KRAS was associated with right-sided lesions and African-American ethnicity. Compared to wt-KRAS, m-KRAS was associated with a reduced DSS. Additionally, right-sided lesions were an independent negative prognostic factor for DSS." - pmids: - - "31500429" - - text: "Studies suggest that carcinoembryonic antigen and cytology are more accurate than KRAS proto-oncogene [Review and Meta-Analysis]." - pmids: - - "31206466" - - text: "As FOLFIRI+Bevacizumab has recently also been associated with sustained complete remission in a APC/TP53/KRAS triple-mutated patient, these driver genes should be tested and monitored in a more in-depth manner in future patients." - pmids: - - "31900123" - - text: "Addition of anti-EGFR in left sided K-RAS wild-type metastatic colorectal cancer (mCRC) regarding PFS was beneficial, however there was no difference in terms of OS." - pmids: - - "31646798" - - text: "Our study confirmed that after bevacizumab-based treatment, KRAS status might not be a prognostic factor. We have also shown that left Colorectal cancer (CRC) have more favorable outcomes than right CRC in bevacizumab therapy" - pmids: - - "31646797" - - text: K-RAS mutation-positive follicular neoplasm/suspicious for follicular neoplasm nodules have a 50% risk of malignancy and surgery should be recommended. Combined use of ACR TIRADS and K-RAS mutation may facilitate risk-stratification of patients with CITNs. - pmids: - - "31295281" - - text: MiR-143-3p may suppress tumorigenesis in Pancreatic ductal adenocarcinoma by targeting KRAS. - pmids: - - "31521891" - - text: was no significant difference of K-ras gene mutation between primary malignancies patients with colorectal cancer (CRC) and patients with single CRC - pmids: - - "32075360" - - text: "SNORD50A/B RNAs shape the composition of proteins proximal to KRAS, notably by inhibiting KRAS proximity to the SNARE vesicular transport proteins." - pmids: - - "31712554" - - text: beta-Catenin is a potent biomarker candidate for alleviating MEK inhibitor resistance in KRAS mutant colon cancer cells with PIK3CA mutations. - pmids: - - "30944457" - - text: "Our study demonstrates that [(89)Zr]Zr-Tf is a valuable tool to noninvasively assess oncogene status and target engagement of small-molecule inhibitors downstream of oncogenic KRAS, allowing a quantitative assessment of drug delivery." - pmids: - - "30228208" - - text: KRAS mutation status can help predict recurrence-free survival. Primary tumor location was not a prognostic factor after resection. KRAS mutation status can help design a multidisciplinary approach after curative resection of CLM. - pmids: - - "31426677" - - text: Results indicate that oncogene addiction can be targeted for therapy in colon cancer cells harboring the KRAS-mutant. - pmids: - - "30674639" - - text: "MAPK signaling dependency in epithelial lung cancer cells is due to the scaffold protein interleukin-17 receptor D (IL17RD), which is directly repressed by ZEB1." - pmids: - - "30867319" - - text: Results from tumor biopsies and blood-derived ctDNA biopsies were used to investigate the level of concordance for altered KRAS among 433 patients with diverse cancer types in order to determine temporal and spatial effects on concordance across the spectrum of malignancies suggest that presence of KRAS alterations in both tests is an independent prognostic factor for poor survival. - pmids: - - "31199507" - - text: "Summary of the types of KRAS mutations and their relationship with pancreatic cancer and included the downstream signaling pathway Raf-MEK-ERK, PI3K-AKT, RalGDS-Ral of KRAS (review)" - pmids: - - "31456520" - - text: BRAF mutation and dMMR. KRAS and BRAF mutations were independent risk factors for shorter overall survival (OS) in Stage IV tumors but not in Stage I-III tumors. NRAS mutation was an independent risk factor for shorter OS in Stage I-II tumors - pmids: - - "31162857" - - text: Cigarette smoking-induced airway epithelium remodeling is mediated by abnormal activation of KRAS-dependent signaling mechanisms. - pmids: - - "31399087" - - text: JAK1/2 inhibition as promising therapy for K-RAS-driven lung AC. - pmids: - - "31407334" - - text: Authors demonstrated that enforced PCDH7 expression significantly accelerates Kras(G12D) -driven lung tumorigenesis and potentiates MAPK pathway activation. - pmids: - - "30409919" - - text: High Frequency of KRAS Codon 146 is associated with colon Cancer. - pmids: - - "31450901" - - text: The small numbers of KRAS mutations and ALK rearrangements are the limitation of this study for evaluation of diagnostic imaging. The frequency of these genetic alterations was as reported in the literature. We believe that our work will contribute to future meta-analysis. - pmids: - - "31910789" - - text: The aim of this study was to clarify the impact of KRAS mutations on prognosis in patients with stage I-III colorectal cancer - pmids: - - "30739887" - - text: "Even if the found, KRAS G12D mutation is predicted to be tolerated and has no deleterious effect on the entire Ras protein; the consequence of this missense mutation depends mainly on the position in the protein and the chemical properties of the amino acid involved in the substitution and which shows a strong affinity with the GTP molecule." - pmids: - - "31021322" - - text: Sinonasal inverted papilloma and sinonasal oncocytic papilloma are two clinical entities with different genetic mutational patterns of EGFR and KRAS. Mixed types with elements of both may harbour both EGFR and KRAS mutations. - pmids: - - "30916792" - - text: KRAS codon 12G-to-V or G-to-C mutations are independent prognostic factors in patients with stage I-III colorectal cancer. - pmids: - - "31309326" - - text: KRAS mutations in codon35 were detected in about two thirds of specimens with brain arteriovenous malformations - pmids: - - "30902772" - - text: KRAS hotspot mutations remain a rare event in diffuse gliomas. Targeted screening of oligodendrogliomas for KRAS mutations does not provide additional diagnostic benefit in clinical practice. - pmids: - - "30676672" - - text: "Some smoking characteristics, i.e. being an ex-smoker, frequency and inhalation, may be associated with risk for colorectal cancer characterized by the wild-type KRAS gene, especially in men." - pmids: - - "18296105" - - text: Alcohol consumption is weakly associated with an increased risk of having a K-ras mutated pancreatic ductal adenocarcinoma - pmids: - - "19326463" - - text: "KRAS does not seem an \"a priori\" negative factor for TKI-based treatment of NSCLC" - pmids: - - "19596959" - - text: Sorafenib inhibits NSCLC cell growth by targeting B-RAF in cells with wild-type KRAS and C-RAF in those with mutant KRAS. - pmids: - - "19638574" - - text: Features of KRAS mutations in lung cancer contrast with the features of EGFR mutations. - pmids: - - "20108024" - - text: "Human lung adenocarcinoma cases lacking EGFR, KRAS, and ALK mutations had a worse prognosis for relapse and death, compared with cases with EGFR, KRAS, or ALK mutations" - pmids: - - "22080568" - - text: This study provides significant guidance for narrowing down the number of KRAS mutations to be screened as potential diagnostic biomarkers and to better understand the structural and functional mechanisms of the KRAS protein - pmids: - - "31117243" - - text: The V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) mutation status has been identified as an important factor in the treatment of colorectal cancer. - pmids: - - "31439256" - - text: Targeted degradation of the KRAS oncoprotein through the ODC/AZ pathway at the post-translational level may reflect a more effective future therapeutic strategy for pancreatic cancer patients - pmids: - - "30347501" - - text: Kras(G12D) mutation plays a critical role in Treg conversion and contributes to an immunosuppressive tumour microenvironment in pancreatic cancer. - pmids: - - "30664964" - - text: Our preclinical study supports further clinical evaluation of combined MEK inhibition and chemotherapy for lung cancer patients harboring KRAS (G12C) and wild-type p53 status. - pmids: - - "29945997" - - text: KRAS exon 3 and PTEN exon 7 mutations had no significant impact on overall survival of small-cell lung cancer patients. - pmids: - - "31209806" - - text: Results provide evidence that KRAS and EGFR gene amplifications mediate resistance to the third-generation EGFR TKIs rociletinib and osimertinibin acquired Afatinib-resistant non-small cell lung cancer harboring exon 19 deletion/T790M in EGFR. - pmids: - - "30322949" - - text: "KRAS is frequently mutated in endometriotic epithelium, with a higher mutant allele frequency accompanied by arm-level allelic imbalances." - pmids: - - "30110635" - - text: Findings highlight the prognostic significance of the transcriptional regulator Id1 in KRAS-mutant lung adenocarcinoma and provide mechanistic insight into how it controls tumor growth and metastasis. - pmids: - - "30563891" - - text: "Using patient-derived cell line and xenografts, we characterize the mechanism of crizotinib resistance mediated by KRAS amplification in METex14-mutant NSCLC and demonstrate the superior efficacy of the dual MET/PI3K inhibition as a therapeutic strategy addressing this resistance mechanism." - pmids: - - "30072474" - - text: The LKB1 mutation in KRAS-mutant NSCLC conferred enhanced radiosensitization in combination with trametinib. The WT LKB1 could activate autophagy through AMPK pathway to induce resistance to the combination of trametinib and radiation. - pmids: - - "30068711" - - text: "Although patients with baseline ctDNA RAS mutations had worse outcomes than patients who were WT RAS before initiating treatment, emergent ctDNA RAS mutations were not associated with less favorable patient outcomes in panitumumab-treated patients." - pmids: - - "29898991" - - text: the expression of KRAS G12V expression did not change Yap/Taz activity in myoblasts and there was a limited overlap in gene expression between KRAS G12V and YAP1 S127A-driven tumours. - pmids: - - "30353028" - - text: we used this to investigate mechanisms of cEt-ASO trafficking across a panel of cancer cells. We found that the extent of ASO-mediated KRAS mRNA knockdown varied significantly between cells and that this did not correlate with bulk levels of intracellular accumulation - pmids: - - "30927008" - - text: Activation of Src might prove effective in treating EGFR/wild-type KRAS colon cancer. - pmids: - - "30158525" - - text: "Patients with KRAS exon 2 wild-type (WT) mCRC following failure of fluoropyrimidine-based therapy received i.v. irinotecan and panitumumab every 2 weeks, and everolimus orally throughout a 14-day cycle. The primary endpoint of the phase II study was response rate (RR). Secondary survival outcomes were calculated using the Kaplan-Meier method, and results were analyzed as intention to treat." - pmids: - - "29739790" - - text: "We find that most JAK2 mutations, some TP53 mutations, and rare KRAS mutations detected in cfDNA are derived from clonal hematopoiesis, CH not tumor. Clinicians ordering plasma genotyping must be prepared for the possibility that mutations detected in plasma, particularly in genes mutated in CH, may not represent true tumor genotype." - pmids: - - "29567812" - - text: "Study in Norwegian cohort of primary colorectal cancer patients revealed that BRAFV600E mutations are enriched and associated with metastatic disease in consensus molecular subtype-1 (CMS1) microsatellite stable (MSS) tumors, leading to poor prognosis in this subtype. KRAS mutations are associated with adverse outcome in epithelial (CMS2/CMS3) MSS tumors." - pmids: - - "29518181" - - text: "Study shows that LIF expression is induced specifically by oncogenic KRAS in pancreatic ductal adenocarcinomas (PDAC) and that LIF depletion by genetic means or by neutralizing antibodies prevents engraftment in pancreatic xenograft models. The related cytokine IL-6 cannot substitute for LIF, suggesting that LIF mediates KRAS-driven malignancies through a non-STAT-signaling pathway." - pmids: - - "31296870" - - text: "That CRISPR-Cas9-mediated genome editing can potentially be used for the treatment of cancer patients, specifically those with oncogenic KRAS mutations." - pmids: - - "30089886" - - text: "Inhibition of either autophagy or asparagine synthetase reduced KRAS(G12V)-driven tumor cell proliferation, migration, and invasion." - pmids: - - "29956571" - - text: Alterations of mTOR signaling impact metabolic stress resistance in colorectal carcinomas with BRAF and KRAS mutations. - pmids: - - "29907857" - - text: "This study found \"rare mutations\" in RAS genes in nearly 14% of colorectal cancer (CRC) -i.e., in almost a quarter (24.0%) of KRAS exon 2 wild type CRCs, including 2.3% in KRAS exon 3, 8.2% in KRAS exon 4 and 3.4% in NRAS. Stage I-III patients with PIK3CA or NRAS mutations developed more distant metastases (3-year risk in PIK3CA mutated and wild type patients: 23.3% vs 11.5%, P = 0.03." - pmids: - - "29666387" - - text: Full-length EGFR and truncated EGFRvIII work through KRAS to upregulate the chemokine CCL2 and drive macrophage infiltration in glioblastoma - pmids: - - "30401716" - - text: "Despite affecting an identical amino acid in both KARS isoforms, results show that the disease-causing variant p.(Pro228Leu) inhibits specifically mitochondrial, but not cytosolic, translation." - pmids: - - "30252186" - - text: "Dual-luciferase reporter assay in pancreatic ductal adenocarcinoma (PDAC) cells validated that TP53TG1 and 3'UTR of KRAS oncogene mRNA competitively bind with miR-96. Data further indicate that TP53TG1 could effectively function as a sponge for miR-96 to modulate the derepression of KRAS, thus promoting PDAC development." - pmids: - - "31325400" - - text: identified focally upregulated FAK and collagen-associated collective invasion in KRAS and LKB1 comutated human lung adenocarcinoma patients. Our results suggest that patients with LKB1 mutant tumors should be stratified for early treatment with FAK inhibitors - pmids: - - "28289710" - - text: "In response to hypoxia, pancreatic ductal adenocarcinoma cells that express activated KRAS increase expression of carbonic anhydrase 9, via stabilization of HIF1A and HIF2A, to regulate pH and glycolysis." - pmids: - - "31078621" - - text: "Nivolumab is an effective and safe treatment option for patients with previously treated, advanced non-squamous non-small-cell lung cancer regardless of KRAS mutations." - pmids: - - "30377342" - - text: Plasma KRAS mutations were detected in 5/17 (29.4%) patients. KRAS ctDNA detection was associated with shorter survival (8 vs. 37.5 months). - pmids: - - "29371474" - - text: "we found that BLT2, a cell surface GPCR for leukotriene B4 and 12hydroxyeicosatetraenoic acid, is highly upregulated in KRAS mutant LOVO and SW480 colorectal cancer cells and plays critical roles in mediating proliferation through activation of phosphatidylinositol 3kinase (PI3K)/protein kinase B (Akt) and subsequent upregulation of cyclin D1." - pmids: - - "30553812" - - text: "Oncogenic KRAS, together with beta-Catenin, favours expansion of crypt cells with high ERK activity." - pmids: - - "31266962" - - text: "RAS genes (HRAS, KRAS, and NRAS) comprise the most frequently mutated oncogene family in human cancer. With a near 100% KRAS mutation frequency, pancreatic ductal adenocarcinoma (PDAC) is considered the most RAS-addicted of all cancers. [review]" - pmids: - - "29229669" - - text: "results demonstrated that O-GlcNAcylation was sufficient and required to accelerate KrasG12D lung tumorigenesis in vivo, which was reinforced by epithelial plasticity programs." - pmids: - - "30130254" - - text: KRAS mutation is associated with ovarian mucinous carcinoma. - pmids: - - "31030485" - - text: "Two patients harbored KRAS with codon 12 mutations; one harbored the gly12val mutation with a variation of leu597val in the BRAF exon 15 codon, the other harbored mutation in the BRAF exon 15 codon. One patient harbored a codon 117 mutation with a BRAF V600E mutation. The last patient harbored a NRAS exon 2 mutation with the GGT/GAT, V600G mutation in the BRAF exon 15 codon" - pmids: - - "31062740" - - text: Mutations of RAS/RAF Proto-oncogenes Impair Survival After Cytoreductive Surgery and HIPEC for Peritoneal Metastasis of Colorectal Origin. - pmids: - - "30303876" - - text: "The study shows a high concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations in plasma against mutation status in tumor tissue." - pmids: - - "31104677" - - text: findings support a causative role of somatic tumour-related mutations of KRAS/BRAF in the overwhelming majority of brain and spinal arteriovenous malformations. - pmids: - - "30544177" - - text: KRAS up-regulation is a promising strategy for lung cancer therapy. - pmids: - - "30971271" - - text: "In colorectal cancer with K-ras gene mutation, the expression of TAK1 protein was positively correlated with the expression of MAP4K2 protein" - pmids: - - "31037906" - - text: Our findings suggest that mutant K-Ras plays an oncogenic role through downregulating miR-199b in NSCLC and that overexpression of miR-199b is a novel strategy for the treatment of K-Ras-mutated NSCLC. - pmids: - - "30987652" - - text: HIC-5 regulates mitochondrial ROS production in tumor cells while requiring activated KRAS to mediate its effect on NOX4 in oncogene-induced senescence and tumor invasiveness. - pmids: - - "30281903" - - text: Colorectal tumors with multiple pit patterns exhibited more advanced pit patterns and higher frequencies of KRAS and/or TP53 mutations than tumors with a single pit pattern - pmids: - - "29948303" - - text: HIC-5 regulates mitochondrial ROS production in tumor cells while requiring activated KRAS to mediate its effect on NOX4 in oncogene-induced senescence and tumor invasiveness. - pmids: - - "30680933" - - text: finding of 5 mutations in RAS-expanded genes allowed us to understand the resistance to cetuximab in 33% of KRAS WT exon 2 nonresponder patients. HER2 does not seem to be a potential biomarker for cetuximab-targeted therapy. - pmids: - - "30199395" - - text: "The authors found KRAS exon 2 and BRAF(V600E) mutation rates were 37.7 and 2.8% in colorectal cancer patients. Tumors with KRAS exon 2 mutations were more likely to be present in female and patients aged older than 75 years, right colon and have well-differentiated histology. Tumors with BRAF(V600E) mutations were more likely to be present in the female, right colon and have poorly differentiated histology." - pmids: - - "30414169" - - text: "Tumor location has been proposed as an additional prognostic indicator and -more recently- as a factor with significant influence on the prognostic value of particular molecular markers and/or combination of markers (KRAS, MSI, APC/MSI), allowing the discrimination of specific disease subsets with considerably disparate outcome and the identification of high risk cases" - pmids: - - "29745066" - - text: KRAS and NRAS gene mutations are associated with sporadic colorectal cancer. - pmids: - - "29921458" - - text: KRAS is the most frequently mutated gene in human cancers. Direct inhibition of KRAS via pharmacological inhibitors has been challenging - pmids: - - "31289919" - - text: These findings suggested that syn-miR-143 acted as a tumor suppressor through the impairment of KRAS networks including the DDX6. - pmids: - - "30959742" - - text: "Sex differences may affect the presentation of KRAS mutations in patients with colorectal cancer (CRC), which were more frequently detected in women and men with in right-sided CRC; KRAS codon 13 mutations were significantly associated with high-plasma cholesterol" - pmids: - - "28277374" - - text: "Knockdown of MSI2 induced downregulation of KRAS, and overexpression of MSI2 upregulated KRAS without causing an increase in the level of KRAS mRNA in bladder cancer. These results indicated that MSI2 post-transcriptionally regulated KRAS expression. Furthermore, MSI2 positively regulated KRAS expression through directly binding to the target sequence UAGUA in the 3'UTR region of KRAS mRNA." - pmids: - - "31066120" - - text: The coregulation of beta-catenin and RAS stabilities by the modulation of their interaction provides a mechanism for Wnt/beta-catenin and RAS-ERK pathway cross-talk and the synergistic transformation of colorectal cancer by both APC and KRAS mutations. - pmids: - - "30413483" - - text: "FOSL1 is a determinant of lung cancer in vivo and regulates tumor cell proliferation and survival, largely in the context of KRAS mutations through amphiregulin and cell survival gene regulation." - pmids: - - "29112457" - - text: The presence of KRAS mutations in parental tumours is associated with an acceleration of the growth rate of cultured tumoroids. - pmids: - - "30884019" - - text: KRAS mutation at codon 12 and the presence of MAPK/ERK pathway proteins were detected suggesting their association with tumorigenesis of adenomatoid odontogenic tumors. - pmids: - - "30294831" - - text: "This study investigated a bypass mechanism of resistance to MEK inhibition in KRAS colorectal cancer (CRC). KRAS mutant colorectal cancer cells with refametinib, MEK inhibitor, induced MIF secretion and resulted in activation of STAT3 and MAPK." - pmids: - - "29896883" - - text: the effects of NRP1 knockdown in cancer cells are dependent on the genetic status of KRAS. - pmids: - - "29018205" - - text: RRSP is a critical virulence factor that robustly inactivates Ras and Rap1 and augments the pathogenicity of invading bacteria via the combined effects of its N and C lobes. - pmids: - - "30282804" - - text: KRAS mutational status can affect the immune microenvironment and survival of lung adenocarcinoma patients - pmids: - - "29858030" - - text: Results suggest that mutant KRAS promotes RAD51 expression to enhance DNA damage repair and lung cancer cell survival. - pmids: - - "30638176" - - text: "aimed to elucidate the carcinogenic effects of insulin and the synergistic effect with the KRAS mutation in the early stage of pancreatic cancer through PI3K/AKT and ERK1/2 activation, with MMP-2 gelatinolytic activity playing a vital role in this process" - pmids: - - "30838710" - - text: High metabolic tumor volume is associated with KRAS mutation and poor postoperative outcomes in patients with intrahepatic cholangiocarcinoma. - pmids: - - "29642912" - - text: Sirt5 inhibitors in combination with chemotherapeutic agents and/or cetuximab may represent a therapeutic strategy for colorectal cancer patients harboring wild-type Kras. - pmids: - - "29514096" - - text: Study in tumor cell lines shows that MEK1/2 inhibitors (MEKi) resistance driven by KRAS(G13D) amplification is not reversible; these cells do not exhibit growth defects upon MEKi withdrawal but undergo an ERK1/2-dependent epithelial-to-mesenchymal transition and exhibit resistance to commonly used chemotherapeutics. - pmids: - - "31048689" - - text: An actionable requirement for IKKalpha in KRAS-mutant lung adenocarcinoma. - pmids: - - "29588349" - - text: "KRAS mutation is associated with suppressed Th1/cytotoxic immunity in colorectal cancer, the extent of the effect being modulated by CMS subtype. These results add a novel immunobiological dimension to the biological heterogeneity of colorectal cancer." - pmids: - - "29061646" - - text: Mutations in both the p53 tumor suppressor gene and K-ras oncogene are highly frequent in lung tumors from nonsmoking women in China. The predominance of G-->T transversions in both genes and the occurrence of p53 mutations within a specific GC rich region or at specific hotspot codons on the non-transcribed strand are consistent with exposure to smoky coal emissions. - pmids: - - "29704996" - - text: "two major subtypes of KRAS mutant cancers of the lung, pancreas, and large intestine, which reflect different KRAS effector engagement were identified." - pmids: - - "29444439" - - text: MerTK mediates STAT3-KRAS/SRC-signaling axis for glioma stem cell maintenance - pmids: - - "29553850" - - text: Data suggest that Kirsten Ras protein (KRAS) has prognostic value beyond mutation status in microsatellite stable (MSS) colorectal cancer (CRC). - pmids: - - "30121958" - - text: prolonged MAPK pathway inhibition could result in acquired resistance which is associated with increased malignant phenotype in KRAS mutant gastric cancer. - pmids: - - "30466782" - - text: Kras protein expression is controlled by a self-regulating feedforward mechanism mediated by eIF5A-PEAK1.Kras protein level is increased during pancreatic ductal adenocarcinoma progression with the highest levels of expression observed in metastatic cell populations. - pmids: - - "29321164" - - text: A report of the possible use of abundance measures for K-Ras4A for predicting the survival of lung adenocarcinoma patients with KRAS mutations. - pmids: - - "29504894" - - text: KRAS-membrane interaction is tuned by multiple factors - pmids: - - "30559287" - - text: The results indicate that lung cancer patients carrying KRAS mutations are prone to multiple metastases in both lungs. - pmids: - - "29454587" - - text: "KRAS gene mutations do not affect downstream protein expression in colorectal cancer. KRAS protein is associated with poor tumor differentiation, older age, and a risk of tumor recurrence." - pmids: - - "30809081" - - text: SHP2 inhibition is an unexpected vulnerability of KRAS-mutant non-small-cell lung cancer cells. - pmids: - - "29808006" - - text: "Letter: PIK3CA mutation, in particular, mutation of exon 9, has a significant positive association with KRAS mutation in colorectal cancer." - pmids: - - "30361395" - - text: "SHP2 has a critical function in promoting oncogenic RAS/MAPK pathway activation in cancers with RAS-GTP-dependent oncogenic BRAF, NF1 loss and nucleotide-cycling oncogenic KRAS." - pmids: - - "30104724" - - text: No significant differences were found in the frequency of TP53 and K-ras mutations among patients in the 5 countries. - pmids: - - "30678452" - - text: "introducing a rapid and sensitive microarray-based assay for the multiplex detection of minority mutations of oncogenes (KRAS, NRAS and BRAF) with relevant diagnostics implications in tissue biopsies and plasma samples in metastatic colorectal cancer patients" - pmids: - - "30562355" - - text: Mutant Kras-induced upregulation of CD24 enhances prostate cancer stemness and bone metastasis - pmids: - - "30467381" - - text: These data underscore a critical sex-specific role for epithelial Stat3 signaling in K-ras mutant Lung adenocarcinomas. - pmids: - - "30389925" - - text: "EGFR and KRAS mutation status was associated with the expression of AKT, p-AKT, DR5, and DcR1 in non-small cell lung cancer" - pmids: - - "28043144" - - text: Pancreatic juice from PDAC patients is rich in KRAS mutations often not seen in the primary tumor and possibly reflecting precancerous lesions in other regions of the pancreas. The inclusion of TP53 mutation detection and additional markers must therefore be considered for fully exploiting the clinical potential of pancreatic juice samples in early cancer detection - pmids: - - "30611220" - - text: "Gain-of-function mutations in KRAS, FGFR1, and TRPV4 are present in 72% of giant cell lesions of the jaw (GCLJ). TRPV4 mutations induce sustained activation of ERK1/2, indicating that their effects converge with that of KRAS and FGFR1 mutations on the activation of the MAPK pathway in GCLJ." - pmids: - - "30385747" - - text: "This study demonstrated that no significant difference of KRAS status between colon cancer and rectal cancer. KRAS mutation was much more frequent in right-sided colon cancer (RCC) compared with left-sided colon cancer (LCC) and LCC patients with KRAS mutation has a poor prognosis compared with KRAS wild type, but RCC patients did not show the similar effect." - pmids: - - "30917791" - - text: KRAS rare codons inhibit both translation efficiency and transcription. Common codons increase transcriptional rates. Codon usage can affect KRAS protein conformation. - pmids: - - "30275015" - - text: These data highlight that MAPK7 represents a promising target for combination treatment with MEK inhibition in KRAS mutant Non Small Cell Lung Carcinoma. - pmids: - - "29912950" - - text: The present study shows that the regulation of KRAS expression by IMP1 is complex and may involve both the IMP1 protein and its mRNA transcript. - pmids: - - "30104206" - - text: "the data indicated that the miR1433p/kRas/Raf/MEK/ERK axis serves a key regulator in the development and progression of laryngeal squamous cell carcinoma (LSCC), suggesting that miR1433p may be a potential prognostic biomarker and therapeutic target in the treatment of LSCC" - pmids: - - "30535502" - - text: "A non to light smoking habit might contribute to an improvement in prognosis that is equivalent to that of wild-type KRAS, and p53 mutation did not affect survival in smokers harboring KRAS codon 12." - pmids: - - "30223391" - - text: "A dual specificity phosphatase, DUSP6, that negatively regulates phosphorylation of (P)-ERK is up-regulated in EGFR- or KRAS-mutant lung adenocarcinoma (LUAD), potentially protecting cells with mutations in the RAS signaling pathway, a proposal supported by experiments with DUSP6-specific siRNA and an inhibitory drug" - pmids: - - "30475204" - - text: G12D and G12C mutations in the KRAS gene are associated with cases of tubular apocrine adenoma (TAA). - pmids: - - "29241739" - - text: "studies strongly suggest that posttranslational modification(s), including sumoylation mediated by Lys-42, plays a crucial role in K-Ras activities in vivo." - pmids: - - "30228186" - - text: "Postzygotic KRAS mutation is associated with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus." - pmids: - - "30443000" - - text: KRAS Mutation is associated with Recurrence in Colorectal Cancer Liver Metastases. - pmids: - - "29786130" - - text: Mutations in the KRAS gene are associated with invasiveness of implants and a poorer prognosis in patients with serous borderline tumor or atypical proliferative serous tumor. - pmids: - - "29027536" - - text: RAS mutations in acute myeloid leukaemia patients - pmids: - - "30194935" - - text: High KRAS expression is associated with melanoma. - pmids: - - "29495114" - - text: No young-age colorectal cancer patients contained a BRAF mutation compared with 46 (10.6%) of 434 in older-age cancer patients (p < 0.001). KRAS mutations were less common in young cancers compared with older cancers (13/57 (22.8%) vs 126/410 (30.7%); p < 0.01). Eleven (19.3%) of 57 young cancers were proximal compared with 228 (51.8%) of 440 (p < 0.001) older cancers. - pmids: - - "30394984" - - text: Mutations that confer resistance in cancer are even less likely to occur downstream of KRAS than to occur within KRAS. - pmids: - - "29453361" - - text: "Cecal adenocarcinomas are characterized by a high frequency of KRAS mutations compared with noncecal right colon tumors, frequently display high tumor budding, and this may be a prognostically relevant variable, particularly in patients with stage III or IV disease." - pmids: - - "29240583" - - text: Mutant KRAS is associated with liver metastasis of colorectal cancer. - pmids: - - "29559746" - - text: KRAS mutation G12D induces protumerogenic phenotype in macrophages and neoplastic structural and phenotypic changes in pancreatic organoids - pmids: - - "29756386" - - text: Associations have been identified between radiological features and clinical features with Epidermal Growth Factor Receptor (EGFR)/ Kirsten RAt Sarcoma (KRAS) alterations in an independent group of patients with Non-Small Cell Lung Cancer (NSCLC). - pmids: - - "30599853" - - text: "Results show that K-Ras has a more substantial population of state 1 in solution than H-Ras, which predominantly favors state 2. The oncogenic mutant K-RasG12D favors state 2, changing the balance of conformational states in favor of interactions with effector proteins." - pmids: - - "29706533" - - text: Post-operative mutations in the KRAS gene identified in cell-free DNA from pancreatic ductal adenocarcinoma patients are associated with significantly earlier recurrence and shorter disease-free survival. - pmids: - - "29360815" - - text: High KRAS expression promotes invasion and metastasis of pancreatic ductal adenocarcinoma. - pmids: - - "29059173" - - text: Wild-type KRAS expression promotes acquired resistance to BRAF inhibition in melanoma. - pmids: - - "29059159" - - text: this study identified a novel mechanism by which oncogenic RAS promotes survival of malignant intestinal epithelial cells. This mechanism is driven by RAS-dependent loss of ATG12 in these cells. - pmids: - - "28933585" - - text: "We conclude that if transfer of functional K-Ras from extracellular vesicles into the cytoplasm of recipient cells occurs, it must do so at an extremely low efficiency and therefore is unlikely to initiate Ras-ERK MAP kinase pathway signaling. These results suggest that studies claiming functional transfer of protein cargoes from exosomes should be interpreted with caution." - pmids: - - "30192821" - - text: "MDM2 amplification in large-duct intrahepatic cholangiocarcinomas is more common than presently considered, and it may represent a unique biliary carcinogenetic process in which KRAS and TP53 mutations are less frequent." - pmids: - - "29309301" - - text: "Stratification of intrahepatic cholangiocarcinoma patients based on occurrence of mutations in three classifier genes (IDH, KRAS, TP53) revealed unique oncogenic programs (mutational, structural, epimutational) that influence pharmacologic response in drug repositioning protocols." - pmids: - - "29278425" - - text: Report recurrent KRAS mutations in mesonephric-like adenocarcinomas of the ovaries/uterus best regarded as of Mullerian origin and representing adenocarcinomas which differentiate along mesonephric lines. - pmids: - - "28984674" - - text: Targeting EGFR ligands may benefit patients who carry EGFR-mutant lung tumors but will not benefit patients with KRAS-mutant lung tumors. - pmids: - - "29662194" - - text: KRAS mutations with Microsatellite Instability is associated with Gastric Cancer. - pmids: - - "29116623" - - text: "These results pinpoint mTOR as a mechanism of resistance to chemotherapy in KRAS-mutant lung cancer and validate a rational and readily translatable strategy that combines mTOR inhibitors with standard chemotherapy to treat KRAS-mutant adenocarcinoma, the most common and deadliest lung cancer subset." - pmids: - - "30171261" - - text: Inhibition of aurora kinases preferentially kills mutant KRAS CRC cells and overcomes KRAS-mediated resistance to anti-EGFR antibodies in vitro and in vivo by restoring PUMA induction. - pmids: - - "29755130" - - text: "In addition, 6 other cancer-associated genes (BRAF, NRAS, HRAS, ERK1, ERK2 and PTEN) were also analyzed. In total, four somatic mutations were identified in three out of 101 ovarian endometriotic lesions (4%, 4/101), including a KRAS p.G12V, a PPP2R1A p.S256F and two ARID1A nonsense mutations (p.Q403* and p.G1926*); while no mutations were identified in the remaining 7 genes (BRAF, NRAS, HRAS, ERK1, ERK2, PTEN and PIK3CA)" - pmids: - - "29547736" - - text: Proscillaridin A as a selective inhibitor of cells harboring the oncogenic KRas(G12V) allele. - pmids: - - "29743592" - - text: "review of the role of KRAS in predicting transition from hyperplastic endometrium to early-stage well-differentiated endometrial cancer, as well as further invasive proliferation of the tumor to advanced-stage disease [review]" - pmids: - - "30711927" - - text: "SHP2 dephosphorylates KRAS, a process that is required to maintain dynamic canonical KRAS GTPase cycle." - pmids: - - "30644389" - - text: "Authors demonstrate that co-occurring KRAS mutation/LKB1 loss in NSCLC cells allowed efficient exploitation of glycolysis and oxidative phosphorylation, when compared to cells with each single oncologic genotype." - pmids: - - "30514331" - - text: "Memory T cells targeting oncogenic mutations in KRAS, SMAD5, and MUC4 detected in peripheral blood of colon cancer patients have been isolated." - pmids: - - "30683863" - - text: "This study unravels an anti-metastatic role of AKT1 in the NSCLC cells with KRAS or EGFR mutations, and establishes an AKT1-MARCKS-LAMC2 feedback loop in this regulation." - pmids: - - "28765579" - - text: "KRAS, SIRT1 and BCL6 are coordinately over-expressed in eutopic endometrium of women with endometriosis" - pmids: - - "28754906" - - text: "KRAS promotes these effects by activating a MAPK-dependent signaling pathway leading to MYC upregulation and transcription of the non-oxidative pentose phosphate pathway (PPP) gene RPIA, which results in nucleotide biosynthesis." - pmids: - - "30470748" - - text: A potential avenue for therapeutic treatment of KRAS-mutant cancers which are otherwise difficult targeted by small molecules. - pmids: - - "30415007" - - text: "Results highlight the differential expression of K-RAS4A and K-RAS4B in advanced adenocarcinoma NSCLC patients and underline the need to further clarify the enigma behind their biological significance in various cancer types, including NSCLC." - pmids: - - "29413054" - - text: "This study provides evidence that germline polymorphisms in VEGFR1, KRAS and ITGAV genes are associated with prognosis in stages II-III colon cancer patients. As stage and tumor location are correlated with prognosis, future genetic studies should stratify colon cancer patients according to these parameters." - pmids: - - "29282362" - - text: "Six mutations located at the BRAF, KRAS, and PIK3CA genes have been detected in colorectal cancer patients using a novel multiplex surface enhanced Raman spectroscopy-multiplex PCR method." - pmids: - - "29556349" - - text: There was a high accordance between KRAS mutation status in EBC-DNA and cancer tissue in NSCLC patients what suggests usefulness of monitoring KRAS mutation in EBC-DNA as a biomarker of NSCLC - pmids: - - "30368666" - - text: molecular dynamics simulation of mutation probabilities of KRAS G12 missense mutants - pmids: - - "30199525" - - text: studies provide mechanistic and biological insights into the role of KRAS dimerization and highlight a role for disruption of dimerization as a therapeutic strategy for KRAS mutant cancers. - pmids: - - "29336889" - - text: We observed that the designed ss-miR-216b mimics engaged AGO2 to promote the silencing of KRAS. We also tested a new delivery strategy based on the use of palmityl-oleyl-phosphatidylcholine (POPC) liposomes functionalized with ss-miR-216b conjugated with two palmityl chains and a lipid-modified cell penetrating peptide . These versatile nanoparticles suppressed oncogenic KRAS in pancreatic ductal adenocarcinoma cells - pmids: - - "30306823" - - text: "MALAT1 acts as a tumour promoter at least in part by binding miR-217 and sequestering the molecule in the nucleus, thereby promoting oncogenic KRAS expression in PDAC." - pmids: - - "28701723" - - text: "Mutations of KRAS and DDR2 were found in large cell carcinoma (LCC) and squamous cell carcinoma (SCC) subtypes, respectively, whereas mutations of TP53 were seen in SCC and lung adenocarcinoma subtypes with higher frequencies and LCC subtype with lower frequency in Iranian patients." - pmids: - - "30048458" - - text: "The results suggest that somatic mutation of hotspot KRAS in codons 12 and 13 is rare in endometriosis, including cases of deep infiltrating endometriosis (DIE) in Korean patients." - pmids: - - "29604100" - - text: Pesticide exposure may play a great role in malignant transformation of urinary bladder cells through mutation in the K-ras gene. - pmids: - - "29644616" - - text: deletion of the oncogenic KRAS allele resulted in enhanced STIM1 expression and greater Ca(2+) influx. - pmids: - - "29748135" - - text: PIP5K1A loss reduces oncogenic KRAS signaling. - pmids: - - "30194290" - - text: GATAD2B interacts with C-MYC to enhance KRAS driven tumor growth. - pmids: - - "30013058" - - text: "the present study demonstrates that miR-422a may serve as a tumor suppressor in osteosarcoma via inhibiting BCL2L2 and KRAS translation both in vitro and in vivo Therefore, miR-422a could be developed as a novel therapeutic target in osteosarcoma." - pmids: - - "29358307" - - text: "our studies demonstrate how KRAS inhibits the tumor suppressor RKIP, thus offering novel justification for targeting RKIP as a strategy to overcome KRAS-induced tumor metastasis and chemoresistance in PDAC." - pmids: - - "29315556" - - text: "This study confirms the tumor suppressor roles of miR-193a-3p, its downstream target affinity to KRAS and clinical significance in patients with colorectal adenocarcinoma." - pmids: - - "29104111" - - text: "in Stage I colorectal cancer presence of KRAS mutations, that of simultaneous mutations in PIK3CA gene, or that of multiple KRAS mutations was significantly associated with shorter cancer specific survival; PIK3CA or multiple KRAS mutations were associated with nodal micrometastases and poorly differentiated clusters G3 as well" - pmids: - - "30018674" - - text: "Inhibition of Wee1 by its specific inhibitor MK1775 in combination with sorafenib restored the KRAS mutated cells' response to the multi-target tyrosine kinase inhibitor." - pmids: - - "29343688" - - text: High FOS-like antigen 1 (FOSL1) expression with mutant KRAS protein lung and pancreatic cancer patients showed the worst survival outcome. - pmids: - - "28220783" - - text: "primary resistance to cetuximab is dependent upon both KRAS mutational status and protein expression level, and acquired resistance is often associated with KRAS(Q61) mutations that function even when protein expression is low." - pmids: - - "28593995" - - text: The HSF1-BAG3-Mcl-1 signal axis is critical for protection of mutant KRAS colon cancer cells from AUY922-induced apoptosis. - pmids: - - "29068469" - - text: Study results indicate that pleural homed cancer cells harboring activating KRAS mutations are competent of malignant pleural effusion induction. This genotype-phenotype link is primarily mediated via mutant KRAS-dependent CCL2 signaling that results in the recruitment of CD11b+Gr1+ myeloid cells to the pleural space. - pmids: - - "28508873" - - text: "Copy number gains were seen in EGFR (two of 23, 13.0%) and in one (4.3%) of each PIK3CA, KRAS, MET and STK11" - pmids: - - "29489023" - - text: Study reveals the novel function of NOX4 in reprogramming aerobic glycolysis initiated by activated Kras and inactivated p16 in pancreatic ductal adenocarcinoma. - pmids: - - "28232723" - - text: "The role of KRAS oncogenic signaling in cancer cells.[review]" - pmids: - - "29263151" - - text: High KRAS expression is associated with Bladder Cancer. - pmids: - - "29321082" - - text: "Studies on the metabolic properties of mutant KRAS protein lung tumors have uncovered unique metabolic features that can potentially be exploited therapeutically [Review]." - pmids: - - "28570035" - - text: Plasma membrane polyphosphoinositides depletion caused rapid translocation of K-Ras4B but not H-Ras from the plasma membrane to the Golgi. - pmids: - - "28939768" - - text: "we used hot-spot mutation sequencing to examine whether KRAS/NRAS mutations, a characteristic feature of mesonephric carcinoma,1 are also present in mesonephric hyperplasia. None of the mesonephric hyperplasia cases harboured a KRAS or NRAS mutation." - pmids: - - "28703285" - - text: KRAS mutations are associated with colorectal liver metastases. - pmids: - - "29937183" - - text: "Our data provide evidence that blocking TfR could significantly inhibit lung adenocarcinoma (LAC) proliferation by targeting the oncogene KRAS; therefore, TfR may be a therapeutic target for LAC. In addition, our results suggest a new method for blocking the signal from the oncogene KRAS by targeting TfR in LAC." - pmids: - - "29286585" - - text: "Results show mutation in Kras was associated with worse survival results in patients with pancreatic neoplasm. [review]" - pmids: - - "30227250" - - text: CFTR exhibited an inhibitory role in the malignancy of lung adenocarcinoma A549 cells - pmids: - - "29526175" - - text: "characteristics of the expression of epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), V-Ki-ras2 Kirsten rat sarcoma viral oncogene homologue (KRAS) in non-small cell lung cancer" - pmids: - - "30037374" - - text: "Despite the presence of histological findings indicating long-standing gastroesophageal reflux in 25%, as well as symptomatic gastroesophageal reflux in more than 40%, there was no detectable tissue expression of KRAS or BRAF mutations in adult patients treated for esophageal atresia in childhood." - pmids: - - "28873491" - - text: "The high frequency of KRAS mutation in endometrial atypical hyperplasia with mucinous differentiation, endometrioid carcinoma with mucinous differentiation and mucinous carcinoma indicates that KRAS mutational activation is implicated in the pathogenesis of endometrial mucinous carcinoma." - pmids: - - "30220122" - - text: The frequency of KRAS mutations was significantly higher in Serrated Lesions subgroups with low and intermediate methylated epigenotype tumors and microsatellite stability. - pmids: - - "29974407" - - text: The rate of EGFR mutation was significantly higher in female and non-smoker patients. In TTF-1 positive cases EGFR mutation was more frequent. Age of the patients over 62-year old was correlated with KRAS mutations. The concordance between ALK IHC and FISH was 58.3%. The MET protein in the cases with MET amplification was 100% positive. - pmids: - - "28756651" - - text: the findings demonstrated that mutated K-ras promotes cathepsin L expression and plays a pivotal role in EMT of human lung cancer. The regulatory effect of IR-induced cathepsin L on lung cancer invasion and migration was partially attributed to the Cathepsin L /CUX1-mediated EMT signaling pathway - pmids: - - "29246726" - - text: "These findings collectively suggest that the triple combination of survivin knockdown with ABT-263 and trametinib treatment, may be a potential strategy for the treatment of KRAS-mutant lung adenocarcinoma. Furthermore, our findings indicate that the welldifferentiated type of KRAS-mutant lung tumors depends, at least in part, on TTF1 for growth." - pmids: - - "29658609" - - text: Increased long noncoding RNA HomeoboxA transcript at the distal tip (HOTTIP) expression was associated with poor prognosis independent of KRAS mutation. - pmids: - - "29329159" - - text: "Data show no patient positive for KRAS mutation and/or p53 mutation was found to have malignant transformation, suggesting detection of KRAS or p53 mutation in plasma is not an effective screening tool for pancreatic cancer because accumulation of multiple mutations is required for malignant transformation in the pancreas." - pmids: - - "29303908" - - text: BCL-XL has a role in modulating RAS signalling to favor breast cancer cell stemness - pmids: - - "29066722" - - text: "KRAS is one of the most common mutations in Non-small cell lung cancer. [review]" - pmids: - - "29764594" - - text: "Combination of PCR HRM with either RFLP or direct DNA sequencing was useful to detect K-RAS exon 2 and extended RAS mutations, respectively. Frequency of all RAS mutations in stage IV Indonesian (41%) was similar among Asians (41-49%), which tend to be lower than western (55%) CRC." - pmids: - - "28044264" - - text: "PPARgamma activator, pioglitazone, can activate p21, which is associated with decreased proliferation in 2 aerodigestive preneoplastic cell lines. In addition, the p21 gene may be a potential hypothesis-driven biomarker in translational studies of pioglitazone as a chemoprevention agent for aerodigestive cancer." - pmids: - - "30047791" - - text: "show that mutant KRAS facilitates IKKalpha-mediated responsiveness of tumor cells to host IL-1beta, thereby establishing a host-to-tumor signaling circuit that culminates in inflammatory MPE development and drug resistance" - pmids: - - "29445180" - - text: "In a cohort of patients with pancreatic cysts, KRAS and GNAS mutations had no significant diagnostic benefit in comparison with conventional testing." - pmids: - - "29796909" - - text: "Results reveal that KRAS 3'UTR is a target for miR-19a which overexpression suppresses KRAS expression thus inhibiting angiogenesis in colorectal cancer." - pmids: - - "29207158" - - text: observed that the trend is highly correlative of the rate of change in KRAS mutant DNA concentrations and the period of monitoring - pmids: - - "28956302" - - text: "Mutation frequencies in KRAS exon 3 or 4, NRAS, BRAF, and PIK3CA were 5.5%, 2.7%, 8.3%, and 5.5%, respectively." - pmids: - - "29908105" - - text: "Fluorescence cross-correlation data indicate no direct interaction between C6-ceramide and KRas4B, suggesting that KRas4B essentially recruits other lipids. A FRET-based binding assay reveals that the stability of KRas4B proteins inserted into the membrane containing C6-ceramide is reduced." - pmids: - - "29357287" - - text: Identification of KRAS/NRAS/BRAF mutation status is crucial to predict the therapeutic effect and determine individual therapeutic strategies for patients with colorectal cancer. - pmids: - - "29335867" - - text: KRAS mutation was significantly associated with tumor size - pmids: - - "29103773" - - text: Our finding of frequent KRAS mutation in urachal adenocarcinoma suggests its potential role in the oncogenesis of this neoplasm - pmids: - - "28285720" - - text: a low frequency of BRAF or KRAS mutation in Chinese patients with low-grade serous carcinoma of the ovary - pmids: - - "29273082" - - text: "The authors report that one of the K-Ras splice variants, K-Ras4a, is subject to lysine fatty acylation, a previously under-studied protein post-translational modification. Sirtuin 2 (SIRT2), one of the mammalian nicotinamide adenine dinucleotide (NAD)-dependent lysine deacylases, catalyzes the removal of fatty acylation from K-Ras4a." - pmids: - - "29239724" - - text: "Data indicate that absence of KRAS, TP53 and SMAD4 genetic alterations may identify a subset of pancreatic carcinomas with better outcome." - pmids: - - "29103024" - - text: "Proteoforms with or without the Gly13Asp mutation (G13D) in the KRAS4b isoform were studied in isogenic KRAS colorectal cancer (CRC) cell lines and patient CRC tumors with matching KRAS genotypes. In 2 cellular models, a direct link between knockout of the mutant G13D allele and complete nitrosylation of cysteine 118 of the remaining WT KRAS4b was observed. Major differences in C-terminal carboxymethylation were seen." - pmids: - - "29610327" - - text: "GNAS mutation is a highly specific test for IPMN. When GNAS testing is added to CEA and KRAS, a significantly greater overall accuracy (86.2%) is achieved." - pmids: - - "27514845" - - text: "Knowing the mutation status of KRAS, BRAF or PIK3CA in stage II colorectal cancer can significantly improve the accuracy of prognoses." - pmids: - - "28685592" - - text: KRAS mutations were predominant in non-Squamous cell carcinomas of the cervix and were associated with HPV 18 infection. A combination of KRAS mutation detection and HPV genotyping would be useful in identifying patient with poor prognosis for further interventions. - pmids: - - "29185262" - - text: KRAS mutation is associated with pancreatic cancer. - pmids: - - "29851957" - - text: "Of 106 KRAS protein (KRAS) mutations detected in 171 pancreatic juice samples, 58 were detected in the 5-minute samples, 70 mutations were detected in the 10-minute samples, and 65 were detected in the 15-minute samples." - pmids: - - "29200129" - - text: "We have investigated if the initial source of intratumoral heterogeneity is consequent to multiple independent lineages derived from different crypts harboring distinct truncal APC and driver KRAS mutations, thus challenging the prevailing monoclonal monocryptal model." - pmids: - - "28645942" - - text: KRAS mutations were only associated with risk of death. - pmids: - - "29223986" - - text: "we have found that a subgroup of colorectal cancers, defined by having either KRAS or BRAF (KRAS/BRAF) mutations and BCL2L1 (encoding BCL-XL) amplification, can be effectively targeted by simultaneous inhibition of BCL-XL (with ABT-263) and MCL1 (with YM-155)." - pmids: - - "28611106" - - text: the resveratrol derivative did not affect the growth of HKe3 cell spheroids derived from HCT116 cells by disruption of the activating mutant KRAS gene. These results suggest that the resveratrol derivative inhibits the growth of HCT116 cell spheroids via inhibition of an oncogenic KRAS-mediated signaling pathway. - pmids: - - "28936721" - - text: Kras regulates circular RNA in colon cancer cells. - pmids: - - "27892494" - - text: these results suggest that aspirin inhibited human uterine leiomyoma cell growth by regulating KRasp110alpha interaction. Aspirin which targeting on interaction between K-Ras and p110alpha may serve as a new therapeutic drug for uterine leiomyoma treatment. - pmids: - - "28849118" - - text: "These data reveal previously unknown genomic diversity among KrasG12D-initiated GEMM tumors, places them in context of human patients, and demonstrates how to exploit this inherent tumor heterogeneity to discover therapeutic vulnerabilities." - pmids: - - "29203670" - - text: "Digital droplet PCR reliably detects KRAS G12D mutations in stool-derived DNA from colorectal cancer patients, especially at early stages." - pmids: - - "29093617" - - text: "results thus provide the first detailed insight into the multiplicity, structure, and membrane organization of K-Ras homomers" - pmids: - - "28863262" - - text: Programmed cell death 1 ligand 1 protein (PD-L1) expression significantly correlates with overall mutational load and KRAS protein mutational status in pulmonary sarcomatoid carcinomas. - pmids: - - "29110857" - - text: Our findings showed BRAF and/or KRAS mutations in three of seven cases of low-grade serous neoplasms of the testis - pmids: - - "28543997" - - text: "Intratumoral heterogeneity of the KRAS mutational status is rare in pancreatic ductal adenocarcinoma. In addition, no KRAS heterogeneity between primary tumors and metastatic lymph nodes was detected in this study." - pmids: - - "26967456" - - text: ALK and KRAS mutations are associated with acquired resistance to crizotinib in ALK-positive non-small cell lung cancer - pmids: - - "28601386" - - text: "Altogether, these data show that humanized anti-progastrin antibodies might represent a potential new treatment for K-RAS-mutated colorectal patients, for which there is a crucial unmet medical need" - pmids: - - "28600477" - - text: "longitudinal monitoring of urine specimens showed an increase in the quantity of mutant KRAS transrenal DNA, which were highly associated with disease progression and outcome." - pmids: - - "27998182" - - text: "The presence of KRAS mutations did not enrich for the activation of IL-6, JAK1 or phosphorylated STAT3 in resected lung adenocarcinoma." - pmids: - - "28879441" - - text: "Due to the discordant results (GGT->GTT exon 2 KRAS mutation in the primary tumor, and KRAS-WT in the liver metastases), mutational analysis on liver metastasis was repeated using next-generation sequencing and enriching the sample in tumor cells by manual microdissection; the same type of mutation of the primary tumor (GGT->GTT exon 2 KRAS gene) was confirmed" - pmids: - - "28665451" - - text: KRAS mutations appear to be major driver genetic alterations in both liver and pancreatic mucinous cystic neoplasms (MCNs). - pmids: - - "28570009" - - text: Circulating tumor DNA may serve as a viable alternative to tissue analysis for the detection of KRAS mutations in colorectal cancer - pmids: - - "28885658" - - text: "Collection of transrenal DNA, being noninvasive, is an attractive assay and easily allows serial monitoring of the disease. Results from preoperative detection showed a close correlation to tumor tissue profiling and demonstrated close associations to the disease. We also observed significant decreases in mutant KRAS DNA concentration after surgery, which confirmed transrenal DNA's sensitivity to treatment response." - pmids: - - "28708207" - - text: "Expression of Ki-67, p53 and K-ras in the intestinal mucosa was detected by immunohistochemistry and quantitative real-time polymerase chain reaction (qRT-PCR), respectively. 1.03% patients (n = 7) underwent polypectomy was confirmed to be the early stage of Colorectal cancer (CRC). Histological analysis for expression of p53 and K-ras can guarantee to screen the early stage of CRC." - pmids: - - "29104470" - - text: Deciphering KRAS and NRAS mutated clone dynamics in MLL-AF4 paediatric leukaemia by ultra deep sequencing analysis. - pmids: - - "27698462" - - text: "these results describe a novel mechanism governing PRKD1 gene expression in pancreatic ductal adenocarcinoma and provide a functional link between oncogenic KRas, NF-kappaB and expression of PRKD1." - pmids: - - "27649783" - - text: Data suggest that the co-existence of KRAS mutations and high MYC expression predicts anti-mitotic drug sensitivity. - pmids: - - "27412232" - - text: "activated Ras, protumorigenic COX-2 and Notch1 have roles in in papillary mucinous neoplasm onset" - pmids: - - "27381829" - - text: "while telomere length did not correlate with the presence of a mutation in BRAF (V-raf murine sarcoma viral oncogene homolog B), PIK3CA (phosphatidylinositol 3-kinase catalytic subunit), or MSI status, it was significantly associated with the occurrence of a mutation in KRAS" - pmids: - - "28850092" - - text: "Exposure to cetuximab and various concentration of AG490, an inhibitor of JAK2, STAT3 and HSP27 protein levels, except in the KRAS G12V mutant line, SW620...cetuximab may promote SN38 sensitivity via suppression of HSP27, through blocking the JAK/STAT signaling pathway, and shows synergistic effects when combined with SN38 in wild-type RAS CRC cells." - pmids: - - "28656305" - - text: "In this study we report a new delivery strategy for a G4-decoy oligonucleotide that sequesters MAZ, a transcription factor essential for KRAS transcription. It is based on the use of palmitoyl-oleyl-phosphatidylcholine (POPC) liposomes functionalized with lipid-modified G4-decoy oligonucleotides and a lipid-modified cell penetrating TAT peptide" - pmids: - - "27929127" - - text: These findings suggest that future trials of everolimus in biliary tract cancer would benefit from preselecting patients based on their K-Ras and PI3K/mTOR pathway activation status. - pmids: - - "28544747" - - text: "Our up-to-date review discusses CaM's role in PI3K signaling at the membrane in KRAS-driven cancers. This is significant since it may help development of K-Ras-specific pharmacology." - pmids: - - "28462395" - - text: we detected mutually exclusive KRAS and MAP2K1 mutations in one-third of cases of Rosai-Dorfman disease - pmids: - - "28664935" - - text: "Human and mouse studies reveal that different gene dosages of an activating KRAS mutation are critical determinants of pancreatic cancer biology, including early progression, metastasis, histopathology, cellular plasticity and clinical aggressiveness." - pmids: - - "29364867" - - text: "Our results demonstrated increased expression of both K-Ras mRNA splicing variants in leiomyoma tissue. However, the ultimate result of KRAS expression on leiomyoma development depends on the overall KRAS isoform balance and, consequently, on activated signaling pathways." - pmids: - - "28122482" - - text: observations add to a body of evidence suggesting that HRAS and KRAS show meaningful differences in functionality stemming from differential protein dynamics independent of the hypervariable region - pmids: - - "29235861" - - text: KRAS and BRAF mutations are negatively associated with overall and relapse-free survival in patients who undergo complete liver resection for colorectal cancer liver metastases - pmids: - - "28216246" - - text: "study is the first to identify driver-follower relationships in correlated motions of K-Ras residue pairs, revealing the direction of information flow during allosteric modulation of its nucleotide-dependent intrinsic activity: active K-Ras Switch-II region motions drive Switch-I region motions, while alpha-helix-3L7 motions control both." - pmids: - - "27845397" - - text: "The present case series suggests that the incidence of concomitant KRAS/BRAF mutations in patients with surgically treated colorectal liver metastasis may be higher than previously hypothesized, and associated with more variable survival outcomes than expected." - pmids: - - "29715113" - - text: The high incidence of KRAS mutations in papillary mucinous metaplasia suggests that papillary mucinous metaplasia may be a precancerous lesion of a certain subset of mucinous carcinomas of the endometrium - pmids: - - "29715099" - - text: "in vitro results showed that the repression of KRAS by miR-16 suppressed the proliferation and invasion and induced the apoptosis of colorectal cancer (CRC) cells, and the in vivo results revealed that miR-16 exerted a tumor-suppressive effect by negatively regulating KRAS in xenograft mice. Taken together, our findings provide evidence supporting the role of miR-16 as a tumor suppressor in CRC by targeting KRAS" - pmids: - - "27857191" - - text: k-RAS gene mutation status was associated with the response of Gefitinib treatment in patients with nonsmall-cell lung cancer - pmids: - - "28901317" - - text: "we demonstrate that oncogenic p110alphaH1047R, K-RasG12V, H-RasG12V, and Her2 use a common Akt1-FOXO3a pathway in suppression of DeltaNp63alpha expression and, consequently, promote cell migration/invasion and tumor metastasis. Thus, DeltaNp63alpha may function as a critical integrator of oncogenic signals in cell motility and cancer metastasis." - pmids: - - "28468801" - - text: "In the colorectal biopsies from 50 patients with suspected colorectal cancer, 18 cases (36%) contained mutant KRAS, and the amount of mutant DNA accounted for 18.664.2% of the total DNA." - pmids: - - "28677778" - - text: "KRAS mutation patterns in Sri Lankan metastatic colorectal cancer: p.Gly13Asp (40.0%), p.Gly12Val (24.0%),p.Gly12Cys (12.0%), p.Gly12Ser (12.0%), p.Gly12Asp (8.0%), and p.Gly12Arg (4.0%). The codon 13 mutation was a G>A transition (40.0%), while G>T transversions (32.0%), G>A transitions (24.0%), and G>C transversions (4.0%) were found in the codon 12 mutations." - pmids: - - "28797274" - - text: "It is unclear if we may have seen greater clinical activity if we were able to fully inhibit Src in this study, but given the requirement that enrolling patients have documented disease progression on cetuximab, acquired resistant KRAS-mutant clones may have been present, limiting future strategies to reverse EGFR resistance" - pmids: - - "28280091" - - text: "KRAS is associated with activation of ERK2, induction of FASN, and promotion of lipogenesis." - pmids: - - "28400509" - - text: These results indicated that ASCT2 (SLC1A5) could be a novel therapeutic target against KRAS-mutant colorectal cancer. - pmids: - - "28749408" - - text: "Authors analyzed 421 samples from CLM patients for their all-RAS mutation status to compare the overall survival rate (OS), recurrence-free survival rate (RFS), and the pattern of recurrence between the patients with and without RAS mutations." - pmids: - - "29194647" - - text: "A quantitative, mutation-enrichment next-generation sequencing test for detecting KRAS(G12/G13) mutations in urine cfDNA had good concordance with testing of archival tumor tissue. Changes in mutated urine cfDNA were associated with time to treatment failure." - pmids: - - "28096270" - - text: "Findings indicate neurofibromin 1 (NF1) as the most frequently occurring driver mutation in mucosal melanoma, and RAS alterations, consisting of NRAS and KRAS mutations, were the second most frequent mutation type." - pmids: - - "28380455" - - text: AFR3 cells harbored the secondary EGFR mutation T790M. Our findings constitute the first report showing acquired wild-type KRAS overexpression and attenuation of afatinib resistance following a drug holiday. The heterogeneous mechanisms of afatinib resistance should facilitate the development of more effective therapeutic strategies for non-small cell lung cancer patients - pmids: - - "28289161" - - text: that conventional cytology from Endoscopic ultrasound-guided fine-needle aspiration samples is highly specific for the diagnosis of KRAS mutation in pancreatic cancer - pmids: - - "28450086" - - text: KRAS Polymorphism is associated with recurrence in non-small cell lung cancer. - pmids: - - "28150169" - - text: The study results improve our understanding of the ATMIN-KRas axis leading to HNSCC migration or invasion and metastasis and facilitates the identification of possible therapy targets of downstream genes for designing effective therapeutic strategies in personalized medicine - pmids: - - "28012797" - - text: miR-450b-5p induced by oncogenic KRAS is required for colorectal cancer progression - pmids: - - "27494869" - - text: "BRAF mutation, rather than KRAS, was a significant prognostic factor in Korean colorectal cancer patients at both early and advanced stages." - pmids: - - "28583095" - - text: The critical roles of miR-30a and ME1 in the development of KRAS-mutant colorectal cancer indicate therapy potentials for this subtype of cancer. - pmids: - - "28475173" - - text: "The lack of KRAS, NRAS, BRAF, and PIK3CA mutation in our study may suggest that a subset of eyelid sebaceous carcinomas is unlike that of eyelid sebaceous carcinomas of western countries." - pmids: - - "28551389" - - text: "The model we propose is a variation of the currently existing model and hypothesizes that, in a subgroup of colorectal carcinomas, K-ras mutation may precede APC inactivation, representing the earliest driving force and, probably, an early biomarker of colorectal carcinogenesis." - pmids: - - "28652417" - - text: G12C mutation associated with reduced progression-free survival in non-small cell lung cancer treated with pemetrexed - pmids: - - "28407465" - - text: This work provides evidence that TP53 and KRAS mutation in lung adenocarcinoma may be served as a pair of potential predictive factors in guiding anti-PD-1/PD-L1 immunotherapy - pmids: - - "28039262" - - text: "KRAS exon 2 codon 13 mutations, compared to codon 12 mutations, seem to be associated with better outcomes following lung metastasectomy in colorectal cancer" - pmids: - - "27911859" - - text: analysis of K-RAS and N-RAS mutations in testicular germ cell tumors - pmids: - - "28426398" - - text: "KRAS mutations were rarely found together and those in codons 12 and 13 conferred poor prognosis. For BRAF, more c.1781A>G (p.D594G) colorectal cancers (CRC)carried RAS mutations [14% (3/21)] compared with c.1799T>A (p.V600E) CRCs.For NRAS, 5% (3/60) of codon 61 mutant colorectal cancers had KRAS mutations compared with 44% (10/23) of codons 12 and 13 mutant colorectal cancers" - pmids: - - "27815357" - - text: The mutation rate of EGFR in stag I-IIIa NSCLC patients was lower than that in advanced NSCLC patients. And the percentage of the NSCLC patients with EGFR-KRAS double mutations is 0.9%. - pmids: - - "28935015" - - text: "KRAS mutations were present in all high-grade (HG) lesions, suggesting that this gene has an important role in the pathogenesis of pancreatic adenocarcinomas arising from mucinous cystic neoplasm (MCN)." - pmids: - - "28196015" - - text: Data suggest a role of XIST- correlated small RNA XPi2 in modulating the G-quadruplex formation which may play some essential roles in the KRAS- associated carcinogenesis. - pmids: - - "27880931" - - text: "Our data suggest that Kras mutations increase telomerase activity and telomere length by activating the RAS/MEK pathway, which contributes to an aggressive phenotype of NSCLC." - pmids: - - "27329725" - - text: "Mutations in each of the KRAS, CDKN2A, TP53, and SMAD4 genes were not associated with overall survival." - pmids: - - "28099251" - - text: "KRAS mutation analysis with PNAClamptrade mark technique using washing fluid from EUS-FNA along with cytological examination may not only improve the diagnostic accuracy of PDACs, but also establish the platform using genetic analysis which would be helpful as diagnostic modality for PDACs." - pmids: - - "27974679" - - text: KRAS mutations in ctDNA indicated a worse PFS and OS in patients treated by chemotherapy. - pmids: - - "28430611" - - text: "A panRAF inhibitor, LY3009120, potently inhibited proliferation and tumor growth in BRAF/KRAS mutated colorectal tumors." - pmids: - - "27999210" - - text: KRAS and PIK3CA genotype may be considered as negative predictive markers and should carry out the analysis expeditiously. - pmids: - - "26033401" - - text: "microRNA expression profiles had clinicopathological implications that were related to EGFR and KRAS mutations, as well as ALK-rearrangement in lung adenocarcinoma." - pmids: - - "28035073" - - text: Generated multiple mutant KRAS-driven cancer cell lines with acquired resistance to the purine-scaffold HSP90 inhibitor PU-H71. Report a Y142N missense mutation in the ATP-binding domain of HSP90alpha that co-occurred with amplification of the HSP90AA1 locus in resistant cells. - pmids: - - "28032595" - - text: KRAS mutation is associated with Colorectal Liver Metastases. - pmids: - - "27016292" - - text: KRAS mutation is associated with lymph node metastasis in Rectal Cancer. - pmids: - - "27020587" - - text: recombinantly tailored beta-defensin can intensively enter into the K-Ras mutant pancreatic cancer cells through macropinocytosis-mediated process - pmids: - - "27517152" - - text: "KRAS mutation is associated with poor relapse-free-survival, but not with overall survival in patients with ampullary adenocarcinoma.[meta-analysis]" - pmids: - - "27517148" - - text: KRAS mutation could induce PD-L1 expression through p-ERK signaling in lung adenocarcinoma - pmids: - - "28451792" - - text: Mutation analysis Iindicate NRAS as the most commonly mutated gene in myeloma patients followed by KRAS ( and BRAF. - pmids: - - "27634910" - - text: KRAS point mutations are associated lung cancer. - pmids: - - "26992209" - - text: Co-targeting translation and proteasome using the combination of Episilvestrol and Bortezomib promoted strong endoplasmic reticulum stress and rapid killing of colon cancer cells with KRAS/BRAF mutations. - pmids: - - "28030835" - - text: "Report targeted analysis of KRAS, BRAF and PIK3CA mutations in circulating tumor cells captured by a label-free platform and compare to expression in primary tumor tissue and metastases." - pmids: - - "27863403" - - text: The in vitro and in vivo inhibitory effect of zoledronic acid was based on the blockade of cell cycle in wild type KRAS-expressing human non-small cell lung cancer cells. - pmids: - - "27780929" - - text: RAS-driven tumors induce PI3K/AKT-dependent beta-catenin activation - pmids: - - "27384483" - - text: Report screening of KRAS mutations in plasma samples from pancreatic cancer patients. - pmids: - - "27705932" - - text: "Our studies offer a way forward for Hsp90 inhibitors through the rational design of Hsp90 inhibitor combinations that may prevent and/or overcome resistance to Hsp90 inhibitors, providing an effective therapeutic strategy for KRAS-mutant non-small cell lung cancer ." - pmids: - - "28167505" - - text: this study shows that miR-384 inhibits human colorectal cancer metastasis by targeting KRAS and CDC42 - pmids: - - "27769041" - - text: "Using the system, we detected Circulating tumor cells (CTCs) heterozygosity and heterogeneity in KRAS status among CTCs within a patient and between CTCs and tumor tissues" - pmids: - - "28468669" - - text: "The G12A mutation reduces intrinsic K-Ras GTP hydrolysis by an unexplained mechanism.Study reports crystal structures of G12A K-Ras in complex with GDP, GTP, GTPgammaS and GppNHp, and of Q61A K-Ras in complex with GDP, G12A K-Ras-GTP complex, the switch I region undergoes a significant reorganization such that the Tyr32 side chain points towards the GTP-binding pocket and forms a hydrogen bond to the GTP gamma-phosphate." - pmids: - - "29199977" - - text: "Kras mutation appears to be one of the imperative events in the ovarian mucinous adenoma-borderline tumor-carcinoma sequence, as increased numbers of Kras mutations have been shown to be the strongest predictor of unequivocal malignancy in ovarian mucinous neoplasms." - pmids: - - "27888800" - - text: KRAS Mutation is associated with Recurrence in rectal cancer. - pmids: - - "26786089" - - text: "KY1022, a small molecule that destabilizes both beta-catenin and Ras by targeting the Wnt/beta-catenin pathway, inhibitits cellular events, including epithelial mesenchymal transformation, an initial process of metastasis, and apoptosis in colorectal cancer cells." - pmids: - - "27835580" - - text: The addition of simtuzumab to FOLFIRI did not improve clinical outcomes in patients with metastatic KRAS mutant colorectal carcinoma - pmids: - - "28246207" - - text: The present study demonstrated that pathological stage I adenocarcinoma harboring EGFR and K-ras gene mutations have distinct clinicopathological features. The presence of these mutations alone were not prognostic factors in patients with resected pathological stage I adenocarcinoma. - pmids: - - "28322512" - - text: "Results indicate that specific inhibition of PI3K p110alpha could provide an alternative therapeutic approach for colorectal cancer (CRC) patients, particularly those harboring KRAS mutations." - pmids: - - "27602501" - - text: "Reduced insulin receptor substrate-1 (IRS-1) staining in lung adenocarcinoma tissue microarray displayed a significant survival disadvantage, especially within the Kirsten rat sarcoma viral oncogene homolog (KRAS) mutant subgroup." - pmids: - - "27439864" - - text: "Serrated lesions of the appendix are frequently found in serrated polyposis patients and are most commonly of SSA-type morphology, frequently associated with KRAS mutation." - pmids: - - "27020206" - - text: The expression level of KTRAS was positively correlated to the activity of ERK pathway in glioma cell proliferation. - pmids: - - "26732596" - - text: The gene signatures identified a different patient population for MEK inhibitor treatment compared with KRAS mutation testing. The predictive power of the MEK signature should be studied further in clinical trials - pmids: - - "27733477" - - text: "These results suggest that cetuximab treatment in combination with IL-21 adjuvant therapy in patients with EGFR-positive pancreatic cancer results in significant NK cell activation, irrespective of KRAS mutation status, and may be a potential therapeutic strategy" - pmids: - - "27435400" - - text: MEK inhibition in KRas mutant cells results in activation of ER signaling and prevents the abrogation of signaling through ERK1/2 and p90RSK that is achieved in KRas wild-type EC cells. - pmids: - - "28498246" - - text: "describes practical clinico-pathological specifications to optimize RAS ctDNA determination. Moreover, OncoBEAMtrade mark is useful to monitor RAS in patients undergoing systemic therapy to detect resistance and evaluate the efficacy of particular treatments" - pmids: - - "28419195" - - text: Data show that Williams-Beuren syndrome transcription factor (WSTF) release was mediated by neuregulin-3 (NRG3) following KRASG12V expression in intestinal epithelial cells. - pmids: - - "27449290" - - text: our findings provide support for an autocrine signaling loop engaged by oncogenic K-Ras involving ErbB3 that contributes to the dedifferentiation of the intestinal epithelium during tumor initiation and progression. - pmids: - - "27447549" - - text: The KRAS mutation was associated with Depression severity and higher rates of probable Depression in older Metastatic Colorectal Cancer patients.( - pmids: - - "27468967" - - text: We identified activating KRAS mutations in the majority of tissue samples of arteriovenous malformations of the brain that we analyzed. We propose that these malformations develop as a result of KRAS-induced activation of the MAPK-ERK signaling pathway in brain endothelial cells. - pmids: - - "29298116" - - text: ACSL3 is essential for mutant KRAS lung cancer tumorigenesis in vivo and is highly expressed in human lung cancer - pmids: - - "27477280" - - text: "Mutational activation of Kit-, Ras/Raf/Erk- and Akt- pathways indicate the biological importance of these pathways and their components as potential targets for therapy." - pmids: - - "27391150" - - text: "Data indicate acquired KRAS, NRAS or HRAS mutations in more than one third of patients after cetuximab exposure." - pmids: - - "27119512" - - text: "Mutational status of NRAS, KRAS, and PTPN11 genes is associated with genetic/cytogenetic features in children with B-precursor acute lymphoblastic leukemia." - pmids: - - "28853218" - - text: Mutations in KRAS and BRAF were associated with inferior PFS and OS of mCRC patients compared with patients with non-mutated tumors. KRAS exon 2 mutation variants were associated with heterogeneous outcome compared with unmutated tumors with KRAS G12C and G13D (trend) being associated with rather poor survival - pmids: - - "27358379" - - text: "Mechanistically, increased KRAS expression induced ROS production, which elevated HIF-1alpha and YAP1 expression. Increased HIF-1alpha persistently promoted DDX3 expression via a KRAS/ROS/HIF-1alpha feedback loop." - pmids: - - "28435452" - - text: "The results demonstrated the lack of activity of anti-EGFRs in RAS(KRAS and NRAS) and BRAF wild-type, right-sided tumors, thus suggesting a potential role for primary tumor location in driving treatment choices" - pmids: - - "27382031" - - text: provide a rationale for stratification of human patients with lung cancer harboring KRAS/KEAP1- or KRAS/NRF2-mutant lung tumors as likely to respond to glutaminase inhibition - pmids: - - "28967920" - - text: "These analyses revealed similar efficacy and safety among patient subgroups with differing KRAS mutation status, longer or shorter first-line TTP, and age. Ramucirumab is a beneficial addition to second-line FOLFIRI treatment for a wide range of patients with metastatic colorectal carcinoma" - pmids: - - "27573561" - - text: RAS signaling can upregulate tumor cell PD-L1 expression through a mechanism involving increases in PD-L1 mRNA stability via modulation of the AU-rich element-binding protein tristetraprolin. - pmids: - - "29246442" - - text: To examine the relation of carcinoembryonic antigen (CEA) response with tumor response and survival in patients with (K)RAS wild-type metastatic colorectal cancer receiving first-line chemotherapy in the FIRE-3 trial comparing FOLFIRI plus cetuximab versus FOLFIRI plus bevacizumab - pmids: - - "27234640" - - text: "RAS and GNAS mutations were associated with worse progression-free survival (PFS) at univariate analysis (P = 0.006 and 0.011, respectively). At multivariate analysis, only KRAS mutations were independently associated with PFS (P = 0.012); GNAS mutations were not-being significantly associated with other poor prognostic features such as incomplete cytoreduction or KRAS mutations" - pmids: - - "27502722" - - text: "mutant KRAS can be bypassed by L-ascorbic acid in an SVCT-2-dependent manner. Furthermore, SVCT-2 in mutant KRAS colon cancer may act as a potent marker for potentiating L-ascorbic acid co-treatment with cetuximab." - pmids: - - "27012422" - - text: Multiplex detection of KRASG12/G13 mutations in a small amount of unamplified plasma cfDNA using ddPCR has good sensitivity and specificity and good concordance with conventional clinical mutation testing of archival specimens. A higher percentage of mutant KRASG12/G13 in cfDNA corresponded with shorter survival - pmids: - - "27993791" - - text: "In multivariate analysis, KRAS mutation was associated with poor prognosis." - pmids: - - "27133754" - - text: Mucinous cyst neoplasms (MCNs) more frequently have KRAS mutations and higher risk of malignant progression. - pmids: - - "29187496" - - text: "KRAS mutations may, in part, drive the histologic progression of colorectal adenomas toward a villous histology and higher grades of dysplasia" - pmids: - - "26910894" - - text: "findings indicate that multiple cis-regulatory motifs in the 3' UTR of KRAS finely modulate its expression, and sequence alterations within a binding motif may disrupt the precise functions of trans-regulatory factors, potentially leading to aberrant KRAS expression" - pmids: - - "26930719" - - text: "Our data suggest that KRAS, NRAS, and BRAF mutations predict response to cetuximab treatment in metastatic colorectal cancer patients." - pmids: - - "26989027" - - text: "Data show that KRAS, MTA1 and HMGA2 are direct targets of miR-543." - pmids: - - "26968810" - - text: "Tumor cell content was not associated with mutational rate for EGFR, BRAF and HER2 mutations. DNA quantity was not associated with mutational rate for EGFR, KRAS, BRAF and HER2" - pmids: - - "29175303" - - text: "KRAS codon 12 mutations were detected in 23 of 30 fine-needle aspiration (FNA) specimens (77%) compared with 17 of 30 matched formalin-fixed, paraffin-embedded (FFPE) specimens (57%), for a concordance rate of 74%." - pmids: - - "29024530" - - text: we showed that combination therapy with low concentrations of sorafenib and betulinic acid had the capacity to induce high levels of cell death and abolish clonogenic activity in some non-small cell lung cancer cell lines regardless of KRAS mutations. - pmids: - - "28846180" - - text: Transgenic mouse line expressing the human Ki-Ras bearing an activating mutation (Ki-Ras((G12V))) selectively in the mammary epithelium develop estrogen receptor alpha (ERalpha)-positive ductal adenocarcinomas with 100% incidence within 3-9 months after Ki-Ras((G12V)) induction. - pmids: - - "28745321" - - text: we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. - pmids: - - "28650561" - - text: "Mutations in KRAS, NRAS, and BRAF together occur in more than half of all colorectal cancer cases and are often associated with negative responses to the EGFR inhibitors cetuximab and panitumumab.guideline is clear that we should not be giving EGFR inhibitors to patients with RAS mutations and that patients with BRAF V600E mutations have a much worse prognosis" - pmids: - - "28249840" - - text: Ras inhibitor Kobe0065 prevents lung metastasis through inhibition of the Ras-PI3K-Akt-HIF-1alpha-LOX signaling. - pmids: - - "28951129" - - text: Taken together these data support a model where PDHK4 regulates KRAS signalling and its tumorigenic properties and suggest that inhibition of PDHK4 could represent a novel therapeutic strategy to target KRAS mutant colorectal and lung cancers - pmids: - - "28692044" - - text: ALK/EGFR mutational co-alterations are associated with response to chemotherapy in Non-Small Cell Lung Cancer. - pmids: - - "28007627" - - text: KRAS mutation is associated with lung adenocarcinoma. - pmids: - - "28934759" - - text: KRAS mutation is associated with response to therapy in rectal cancer. - pmids: - - "28859058" - - text: "Study shows that during the development and progression of pancreatic cancer, oncogenic KRas causes metabolic changes that lead to increased generation of mitochondrial reactive oxygen species." - pmids: - - "27215184" - - text: KRAS mutation is associated with response to chemotherapy in metastatic colorectal cancer. - pmids: - - "28068936" - - text: analysis provides further information on the mutational profiles of pulmonary sarcomatoid carcinoma and demonstrates for the first time a role of KRAS mutations in driving the aggressiveness of this type of cancer - pmids: - - "27156442" - - text: KRAS mutations and AKT activation are present in Wilms tumors (WT) and may represent novel therapeutic targets for this tumor. - pmids: - - "28188683" - - text: "The defined role of oncogenic KRAS in the regulation of altered metabolic signaling pathways in KRAS-driven cancers.[review]" - pmids: - - "28647837" - - text: Inhibition of BET bromodomain-dependent XIAP and FLIP expression sensitizes KRAS-mutated non-small cell lung cancer to pro-apoptotic agents. - pmids: - - "27607580" - - text: It has been concluded that VMP1-mediated autophagy cooperated with Kras to promote pancreatic ductal adenocarcinoma initiation. - pmids: - - "27415425" - - text: The presence of a mutation in KRAS is helpful in identifying a mucin-producing Pancreatic cyst and is found in more than 90% of Intraductal Papillary Mucinous Pancreas Neoplasms . - pmids: - - "28890216" - - text: "we found that H-Ras proteins and particularly the G12V and G13D variants are significantly more flexible than their K-Ras counterparts.while most of the simulated proteins sampled the effector-interacting state 2 conformational state, G12V and G13D H-Ras adopted an open switch state 1 conformation that is defective in effector interaction" - pmids: - - "28498561" - - text: We show that the increased gefitinib sensitivity in cancer cells induced by DHHC20 inhibition is mediated directly through loss of palmitoylation on a previously identified cysteine residue in the C-terminal tail of EGFR. - pmids: - - "28899783" - - text: somatic KRAS mutations in polyps represent a potential molecular marker for the risk of developing advanced neoplasia - pmids: - - "28953955" - - text: "In conclusion, mutant KRAS promotes endosomal degradation in PDAC cell lines, which is impaired by KRAS silencing. Moreover, KRAS silencing activates RAB5A upregulation and drives PDAC subtype-dependent modulation of endosome trafficking." - pmids: - - "28867190" - - text: These data indicate that RAGE plays a central role in maintaining inflammatory signaling in PDAC that benefits tumor growth. - pmids: - - "28867179" - - text: "Results from all-atom molecular dynamics simulations show how KRas4A interacts with anionic lipid membranes and find that the protein surface charge as well as geometry, in contact with certain lipids can strongly modulate the orientation preference." - pmids: - - "28286004" - - text: Study underscores genomic alterations that represent early events in the development of Kras mutant LUAD following Gprc5a loss and tobacco carcinogen exposure. - pmids: - - "28653505" - - text: "No significant impact on prognosis was observed for mutated KRAS, NRAS, and PIK3CA genes or combined RAS mutations" - pmids: - - "27737711" - - text: "KRAS mutations were associated with Primary Pulmonary Enteric Adenocarcinomas. KRAS mutations occurred more frequently in Primary Pulmonary Enteric Adenocarcinomas , which are cytokeratin 7-negative (P=.032)." - pmids: - - "28953659" - - text: High expression of KRAS is associated with cutaneous squamous cell carcinoma. - pmids: - - "28931048" - - text: The current study uncovers the contribution of oncogenic KRAS to serum marker CA125 production through a mechanism that involves the ERK/c-Myc axis. - pmids: - - "28108627" - - text: "TAZ was positively correlated with EGFR signaling, and coexpression of TAZ/EGFR conferred a poorer prognosis in lung cancer patients. Our findings identify that targeting TAZ-mediated compensatory mechanism is a novel therapeutic approach to overcome gefitinib resistance in KRAS-mutant/EGFR-wild-type non-small-cell lung cancer ." - pmids: - - "28710768" - - text: CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells - pmids: - - "28538732" - - text: Differences between KRAS and EGFR alterations were not significant. The great majority of the analyzed tumor sections (16/19) exhibited two or more morphological growth patterns. Mutant allele frequencies were significantly higher in segments with a predominant solid pattern compared to all other histologies (p < 0.01). - pmids: - - "28699162" - - text: KRAS mutation is associated with inflammatory bowel disease-associated colorectal cancer. - pmids: - - "28077799" - - text: "We observed that in patients with colorectal cancers, we cannot predict KRAS gene mutations using PET/CT parameters (SUVmax, MTV, TLG), hematological parameters (NLR, PLR) or tumor marker CA 19-9. We detected a significant but not very strong association only between CEA and KRAS mutations." - pmids: - - "28697193" - - text: "KRAS mutation in cfDNA was associated with a poorer survival in cancer patients for overall survival. [meta-analysis]" - pmids: - - "28796802" - - text: Serum and plasma were found to be good materials for detecting cancer-specific DNA in the peripheral blood and the presence of KRAS mutations in blood-derived DNA may be used as a prognostic biomarker for patients with pancreatic cancer. - pmids: - - "28139399" - - text: "the genomic pattern according to MATH demonstrated that mutation rates of TP53, IRF5 and KRAS were independently associated with MATH, and the latter two were only significant in male patients. As MATH increased, the fraction of somatic copy number alteration (SCNA) elevated. Moreover, more SCNA events was independently associated with MATH in male than in female" - pmids: - - "28531253" - - text: "The mutual exclusivity analysis showed that events in K-ras and p53 were likely to co-occur in pancreatic adenocarcinoma. The graphical summary of the mutations showed that there were hotspots for protein activation. In the network analysis, no solid association between K-ras and p53 was observed in pancreatic adenocarcinoma. In the survival analysis, neither K-ras nor p53 were associated with both survival events." - pmids: - - "28742845" - - text: KRAS exon 2 mutation is associated with colorectal cancer. - pmids: - - "28636636" - - text: RAS mutation is associated with infant acute lymphoblastic leukemia. - pmids: - - "27588400" - - text: Suggest that GPR31 acts as a secretory pathway chaperone for KRAS4B in tumor cells. - pmids: - - "28619714" - - text: "The current meta-analysis suggests that Codon 13 mutation of KRAS gene seems to correlate with the OS of patients with colorectal cancer, but has similar overall survival to those with KRAS wild-type in patients receiving anti-EGFR therapy" - pmids: - - "28858102" - - text: "YAP inhibition significantly enhances the antitumor efficacy of a pan-RAF inhibitor, LY3009120, in KRAS-mutant pancreatic cancer." - pmids: - - "28576749" - - text: KRAS mutations are associated with high-grade tumor in colorectal adenocarcinomas. KRAS and PIK3CA genetic variants are associated with aggressive clinicopathological features in colorectal adenocarcinoma. - pmids: - - "28188750" - - text: "The structure model of the CaM-K-Ras4B HVR association provides plausible clues to CaM's regulatory action in PI3Kalpha activation involving the ternary complex in cell proliferation signaling by oncogenic K-Ras4B." - pmids: - - "28623230" - - text: "Circulating exosomal DNA in 5 out of 9 CP patients enabled the detection of KRAS(G)(12)(D) mutation. In 114 healthy subject-derived circulating exosomal DNA, 2.6% presented with KRAS(G)(12)(D) mutation and none with TP53(R)(273)(H) mutation." - pmids: - - "28121262" - - text: Studies indicate that positive PD-L1 expression was significantly correlated with KRAS mutation and EGFR mutation. - pmids: - - "28423587" - - text: "mechanistic insights into the role that phosphorylation at Ser181 plays in regulating K-Ras4B's cellular distribution and activity." - pmids: - - "28448716" - - text: "Data show that Prima-1 kills hypoxic wt p53 KRAS-mutant cells resistant to 3-bromopyruvate (3-BrPA), partly by decreasing GLUT-1 expression." - pmids: - - "27863474" - - text: The data provided new insights into the functional interaction between the KRAS and MYC pathways across various cancer types - pmids: - - "28152508" - - text: COLD-PCR HRM is a cost-effective way for screening KRAS mutation to predict the worst prognosis in colorectal cancer. - pmids: - - "27753016" - - text: these evidences demonstrate that let-7-KRAS rs712 G > T polymorphism might be associated with digestive system cancer risk in the Chinese population. - pmids: - - "28099923" - - text: Cytokines IL-2/7/9 stimulation activates PI3K/Akt pathways downstream of Ras in RasGRP1 T-cell acute lymphoblastic leukemia (T-ALL). - pmids: - - "26549032" - - text: K-Ras is the Direct Target of miR-622. MiR-622 inhibited colorectal cancer cells proliferation and migration and tumor metastasis by suppressing K-Ras. - pmids: - - "26333174" - - text: "Studies indicate that frequently altered genes in type I carcinomas are TP53, K-Ras, PTEN, and ss-catenin." - pmids: - - "27910065" - - text: "we found that ectopic expression of oncogenic KRas and HRas in cells resulted in elevated CIB1 expression. We previously described the Ca(2+)-myristoyl switch function of CIB1, and its ability to facilitate agonist-induced plasma membrane localisation of sphingosine kinase 1 (SK1), a location where SK1 is known to elicit oncogenic signalling." - pmids: - - "27941888" - - text: KRAS mutations were observed in 255 patients (32%) and were correlated with negative histopathological factors in resected non-small-cell lung cancer. - pmids: - - "27530493" - - text: KRAS-E2F1-ILK-hnRNPA1 regulatory loop enables pancreatic cancer cells to promote oncogenic KRAS signaling and to interact with the tumor microenvironment to promote aggressive phenotypes. - pmids: - - "26616862" - - text: "Case Report: KRAS-mutant mucinous adenocarcinoma arose in a longstanding residual neurenteric cyst after partial resection." - pmids: - - "27569299" - - text: activating mutations in GNAS and Kras cooperatively promote murine pancreatic tumorigenesis - pmids: - - "26257060" - - text: "Ras-induced senescent cells are hindered in their ability to recruit BRCA1 and 53BP1 to DNA damage sites. Whereas BRCA1 is downregulated at transcripts levels, 53BP1 loss is caused by activation of cathepsin L-mediated degradation of 53BP1 protein. we discovered a marked downregulation of vitamin D receptor (VDR) during OIS, and a role for the vitamin D/VDR axis regulating the levels of these DNA repair" - pmids: - - "27041576" - - text: These findings identify a key mechanism of tolerance to Ras-Raf pathway inhibitors and suggest that blocking either AMPK or autophagy in combination with these targeted inhibitors could increase tumor regression and decrease the likelihood of eventual recurrence. - pmids: - - "27041569" - - text: "we established that the most potent compound, ophiobolin A, exerts its K-ras4B-specific activity through inactivation of calmodulin. Our data suggest that specific interference with the K-ras4B/calmodulin interaction selectively inhibits CSC." - pmids: - - "26973241" - - text: "This study demonstrated that KRAS and TP53 mutations are frequently detected in LIFE bronchoscopy samples from former lung cancer patients with early stage lung cancer. These mutations were found not only in abnormal lesions but also in histologically normal tissues in samples from active smokers, from ex-smokers and never smokers." - pmids: - - "27182622" - - text: "Overexpression of mutated K-RAS in gastrointestinal cancer cell lines led to more aggressive phenotypes, with increased proliferation, decreased apoptosis, and increased motility and invasion. IGF-1R blockade suppressed cell growth, colony formation, migration, and invasion, and up-regulated chemotherapy-induced apoptosis of gastrointestinal cancer cells, even when mutated K-RAS was over-expressed." - pmids: - - "27312358" - - text: TP53 comutation with KRAS or EGFR is not a significant prognostic marker in patients with resected Non-Small-Cell Lung Cancer. Dual TP53/KRAS mutation seems to be predictive of shortened survival in patients who are treated with platinum-based ACT. - pmids: - - "28453411" - - text: Variation in organ-specific PIK3CA and KRAS mutant levels in normal human tissues correlates with mutation prevalence in corresponding carcinomas. - pmids: - - "28755461" - - text: a potent tumor-suppressive function for Lfng - pmids: - - "26279302" - - text: "Rescue experiments with mutated KRas 3'UTR showed very significantly that the anti-tumour effect of miR-193a-3p is via specific direct targeting of KRas and not due to other targets." - pmids: - - "27669434" - - text: ConclusionThe significantly higher frequency of codon 61 mutation of the ras oncogene in primary and bilateral pterygium specimens compared with normal conjunctiva supports the tumoral origin of pterygium - pmids: - - "27834959" - - text: The results show that KRAS mutations are associated with a worse prognosis than expected in patients treated with FOLFIRI protocol plus bevacizumab compared with the KRAS wild-type population. - pmids: - - "28463756" - - text: Concurrent MET silver in situ hybridization positivity and KRAS mutation may predict a high risk of recurrence in pancreatobiliary subtype of ampullary adenocarcinomas - pmids: - - "28214200" - - text: "A significantly higher proportion (54%) of early onset colorectal cancer cases harbored KRAS mutations, a finding that was independent of tumor stage." - pmids: - - "27346571" - - text: A novel molecular mechanism describing K-Ras and H-REV107 binding is suggested and insights into new K-Ras effector target drugs are provided. - pmids: - - "28743497" - - text: "Data suggest that isoform-specific sequences in the allosteric lobes of HRAS, KRAS, and NRAS have an impact on biocatalysis (kinetics of GTP hydrolysis) and interaction with c-Raf kinase, which must be due to allosteric effects on dynamics and conformational states, given the identical active sites of these isoenzymes." - pmids: - - "28630043" - - text: KRAS mutation patients had more frequent lung metastasis and had higher (18)F-FDG uptake compared to WT KRAS in stage IV CRC. - pmids: - - "28161825" - - text: These five SNPs in the KRAS gene and the VEGF gene were not associated with CRC susceptibility. - pmids: - - "28328959" - - text: The possibility of cfDNA-based genotyping of KRAS to early detect the emergence of resistance during chemotherapy. - pmids: - - "28328955" - - text: Increased staining for phosphorylated ERK1/2 does not correlate to BRAF or KRAS mutations in colorectal neoplasms. - pmids: - - "27036313" - - text: "pancreatic ductal cells, whereas exhibiting relative resistance to oncogenic Kras alone, can serve as an effective cell of origin for pancreatic ductal adenocarcinoma in the setting of gain-of-function mutations in p53" - pmids: - - "26592447" - - text: High KRAS expression is associated with Metastasis in Colorectal Cancer. - pmids: - - "26945839" - - text: "K-ras mutations in codon 12 were significantly associated with the I phenotype of gastric signet ring cell carcinoma, and exhibited an inverse relationship with MUC5AC and MUC6 expression." - pmids: - - "28453172" - - text: KRAS-mutant colorectal carcinoma shows intrinsic radioresistance along with rapid upregulation of hnRNP K in response to ionizing radiation that can effectively be targeted by MEK inhibition. - pmids: - - "27793696" - - text: KRAS mutational status did not differentiate in the association between aspirin use and survival. - pmids: - - "28125730" - - text: Alternative pathways through mutations in KRAS gene are associated with the progression of Colorectal polyps to cancer and may provide insights into the genetic characteristics of skirts. - pmids: - - "26808395" - - text: tyrosine kinase FAK and the laminin subunit LAMB3 as functional targets of miR-1298. Silencing of FAK or LAMB3 recapitulated the synthetic lethal effects of miR-1298 expression in KRAS-driven cancer cells. - pmids: - - "27698189" - - text: "Compared with newly diagnosed multiple myeloma, an increased prevalence of mutations in the Ras pathway genes KRAS, NRAS, and/or BRAF (72%), as well as TP53 (26%), CRBN (12%), and CRBN pathway genes (10%) was observed." - pmids: - - "27458004" - - text: the study identifies mutations in KRAS and POT1 as novel determinants of outcome after chemoimmunotherapy using chlorambucil and anti-CD20 treatment. - pmids: - - "27226433" - - text: Our data suggest that testing for any RAS mutation is unlikely to change the clinical management of thyroid nodules that have indeterminate cytology - pmids: - - "28116986" - - text: "In salivary gland neoplasms, no KRAS mutations at codon 12 and 13 could be observed in the data at hand." - pmids: - - "26245271" - - text: Mutation in KRAS gene is associated with Advanced Lung Adenocarcinoma. - pmids: - - "27518729" - - text: KRAS mutation is associated with colon and lung cancer. - pmids: - - "28154181" - - text: "Equilibrium dissociation constants were determined for the binding of HRAS, KRAS, NRAS and RRAS2 to the RAS binding (RB) domain of binding proteins." - pmids: - - "27936046" - - text: "BRAF or KRAS mutations are independently associated with shorter time to recurrence, shorter survival after relapse, and overall survival in patients with microsatellite-stable (MSS) subgroups, but not microsatellite-unstable tumors." - pmids: - - "28040692" - - text: Mutations within codon 146 of KRAS are associated with oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. - pmids: - - "26970110" - - text: "KRAS protein mutation, may guide the extent of thyroidectomy in patients with thyroid neoplasms." - pmids: - - "27863786" - - text: Studies indicate that RAS proteins were among the first oncogenes identified and are mutationally activated in 30% of all cancer types. - pmids: - - "28202657" - - text: "In patients with resected stage I lung adenocarcinomas, KRAS mutation was an independent prognostic factor for survival and recurrence, especially in solid predominant tumors." - pmids: - - "27740967" - - text: Our study provides a rationale to strengthen NK cell immunotherapy through a combination with cetuximab for RAS and BRAF mutant mCRC patients. - pmids: - - "27314237" - - text: analysis of the G-quadruplex involved in transcriptional regulation of the KRAS proto-oncogene promoter - pmids: - - "28330874" - - text: Studies indicate that the control of spatiotemporal RAS protein signalling show that activation kinetics and subcellular compartmentalisation are tightly coupled to the generation of specific biological outcomes. - pmids: - - "27911734" - - text: "KRAS protein mutation in colorectal liver metastasis, hepatectomy associated with high mortality rate." - pmids: - - "27592215" - - text: "Our data proved that RMRP acted as an oncogene LncRNA to promote the expression of KRAS, FMNL2 and SOX9 by inhibiting miR-206 expression in lung cancer. These data suggested that RMRP might serve as a therapeutic target in lung adenocarcinoma" - pmids: - - "27906963" - - text: Results indicate that MLH1-hypermethylated BRAF wild-type colorectal carcinomas can harbor KRAS mutations and arise from precursor polyps resembling conventional tubular/tubulovillous adenomas. - pmids: - - "27438990" - - text: "The patients with traditional serrated adenoma showed KRAS and BRAF mutations in 58.4 and 8.3% of cases, respectively. Mutations of these genes were absent. The study revealed that the subtypes of serrated adenomas substantially differ by sex, age, localization, and molecular genetic characteristics." - pmids: - - "28295004" - - text: "Endoplasmic reticulum stress triggers a localized signaling module on the ER surface involving Nox4-dependent calcium mobilization, which directs local Ras activation through ER-associated, calcium-responsive RasGRF." - pmids: - - "27856453" - - text: "Additionally, we report that PIP2 forms key contacts with Helix-4 on the catalytic domain of KRas4b that orient the protein in a manner expected to facilitate association with upstream and downstream signaling partners." - pmids: - - "28412347" - - text: Studies indicate potential mechanisms of resistance to anti-EGFR therapies act through acquired mutations of KRAS and the EGFR ectodomain. - pmids: - - "28368335" - - text: "In 2,437 NSCLC patients, a \"KRAS signature\" consisting of the mean expression of the top 5 genes showing altered expression in KRAS-mutated patients had a higher prognostic power than KRAS mutation status alone, indicating that secondary effects of a mutation can have a higher prognostic relevance than the primary genetic alteration itself." - pmids: - - "27859136" - - text: "Our data demonstrate an important connection between mRNA translation and KRAS tumorigenesis under the control of STAT1, which can determine the susceptibility of KRAS tumors to pharmacologic inhibition of mRNA translation initiation." - pmids: - - "27913706" - - text: repression of endogenous mir-200 expression is one of the important cellular responses to KRAS activation during tumor initiation and progression. - pmids: - - "27550813" - - text: "ytoplasmic immunoexpression of BRAF V600E (VE1) protein was found in three specimens: serous superficial papilloma, serous papillary cystadenoma of borderline malignancy, and partially proliferative serous cystadenoma" - pmids: - - "28488545" - - text: Epidermal growth factor receptor mutation and KRAS amino acid substitutions seem to predict site-specific recurrence and metastasis after NSCLC surgery - pmids: - - "27336603" - - text: "KRAS K104Q mutant exhibited defects in both guanine nucleotide exchange factors -mediated exchange and GTPase-activating proteins -mediated GTP hydrolysis, consistent with NMR-detected structural perturbations in localized regions of KRAS important for recognition of these regulatory proteins." - pmids: - - "28154176" - - text: "This review highlights treatment options, including clinical trials for ROS1 rearrangement, RET fusions, NTRK1 fusions, MET exon skipping, BRAF mutations, and KRAS mutations." - pmids: - - "27912827" - - text: "To our knowledge, this is the first report of a K-Ras(G12D)-selective inhibitor, contributing to the development and study of K-Ras(G12D)-targeting drugs." - pmids: - - "28153726" - - text: Three hundred seventy seven patients with wild-type KRAS exon 2 mCRC were randomised. - pmids: - - "27736842" - - text: nuclear Ect2 GEF activity is required for Kras-Trp53 lung tumorigenesis in vivo and that Ect2-mediated transformation requires Ect2-dependent rDNA transcription. - pmids: - - "28110998" - - text: Results suggest that SECs are of neoplastic origin and that KRAS mutations play an important role in the tumorigenesis of ECs and SECs. - pmids: - - "27154241" - - text: "SLC25A22 promotes proliferation and migration of colorectal cancer (CRC) cells with KRAS mutations, and formation and metastasis of CRC xenograft tumors in mice. Patients with colorectal tumors expressing increased levels of SLC25A22 have shorter survival times. SLC25A22 induces intracellular synthesis of aspartate." - pmids: - - "27451147" - - text: "Sequencing of over 11,000 advanced human cancers revealed mutant allele imbalance in 55% of 1,168 KRAS mutant tumors of all histologic types, many of which lost WT KRAS through diverse genetic mechanisms. Clonal evolution at the KRAS locus resulting in increased oncogene expression and loss of the normal allele may identify a subset of cancers with increased dependence on MAPK signaling in some tissue contexts." - pmids: - - "28215705" - - text: "farnesylation of K-Ras was required for its packaging within extracellular nanovesicles, yet expressing a K-Ras farnesylation mutant did not decrease the number of nanovesicles or the amount of Alix protein released per cell." - pmids: - - "27909058" - - text: "By using this model of curative-intent, margin-negative resection in patients at high risk of recurrence, the authors were able to establish a link between mutation location within the K/NRAS gene and the biology of metastatic colorectal cancer." - pmids: - - "27737491" - - text: "Here we review the current knowledge about the classification of this tumor subtype and its association with five key features: mutation status of the BRAF or KRAS genes, the CpG island methylation phenotype, microsatellite instability, immune cell infiltration, and overexpression of GTPase RAC1b" - pmids: - - "27345584" - - text: "KRAS mutations were found in 3 patients with endometriosis but found that lesions in deep infiltrating endometriosis, which are associated with virtually no risk of malignant transformation, harbor somatic cancer driver mutations." - pmids: - - "28489996" - - text: Gli1 and Gli2 exhibited different functions in the regulation of p63 expression or proliferation of p63(+) cells in Kras-AR driven tumors. - pmids: - - "27760825" - - text: Specific mutations in KRAS codon 12 are associated with recurrent colorectal cancer. - pmids: - - "28208157" - - text: "There is a relationship between KRAS mutation status and local recurrence after image-guided ablation of lung adenocarcinoma. Specifically, KRAS mutation status of the ablated lesion is a significant predictor of time to local recurrence, independent of size and margin." - pmids: - - "27440441" - - text: KRAS mutation is associated with recurrent and colorectal liver metastases. - pmids: - - "27244540" - - text: the analysis of K-ras mutations in pancreatic juice has a considerable diagnostic value in pancreatic cancer (Meta-Analysis) - pmids: - - "27237100" - - text: "Ras isoforms' dimer conformations are not uniform; instead, the isoform-specific dimers reflect the favoured interactions of the HVRs (hypervariable regions) with cell membrane microdomains, biasing the effector-binding site orientations, thus isoform binding selectivity." - pmids: - - "27057007" - - text: No relation between oropharyngeal squamous cell carcinomas and KRAS gene mutations - pmids: - - "27888823" - - text: The mitosis-like condensed chromatin positive phenotype defined a subset of KRAS-mutated lung cancers that were enriched for co-occurring genomic alterations in TP53 and CDKN2A. Results illuminate the basis for the radiation resistance of KRAS-mutated lung cancers. - pmids: - - "28202526" - - text: "Study demonstrates that stress granules are markedly elevated in mutant KRAS cells following exposure to stress-inducing stimuli. The upregulation of stress granules by mutant KRAS is dependent on the production of the signaling lipid molecule 15-deoxy-delta 12,14 prostaglandin J2 (15-d-PGJ2) and confers cytoprotection against stress stimuli and chemotherapeutic agents." - pmids: - - "27984728" - - text: "review focuses on the genes, which are frequently mutated in various cancers and are known to be important in the advance and progression of colorectal cancer and melanoma, namely KRAS, NRAS and BRAF" - pmids: - - "28074351" - - text: studies provide a deeper understanding of the critical role for WASF3 in facilitating increased invasion potential in cancer cells expressing mutant RAS and supports the idea that targeting WASF3 in metastatic cells overexpressing RAS may be used to suppress invasion and metastasis - pmids: - - "28233357" - - text: Study found that the K-Ras anchor binds selected plasma membrane anionic lipids with defined head groups and lipid side chains. The precise amino acid sequence and prenyl group define a combinatorial code for lipid binding that extends beyond simple electrostatics; within this code lysine and arginine residues are non-equivalent and prenyl chain length modifies nascent polybasic domain lipid preferences. - pmids: - - "28041850" - - text: Alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- tumors originating via specific molecular pathways including the traditional adenoma-carcinoma pathway but not with BRAF+ tumors originating via the serrated pathway - pmids: - - "27943267" - - text: This is the first report of somatic KRAS mutations in oncocytic sinonasal papillomas and metachronous sinonasal squamous cell carcinoma - pmids: - - "27234382" - - text: A higher percentage of patients with localized pancreatic ductal adenocarcinoma exhibited detectable KRAS mutations in exosome-derived DNA than previously reported for cell-free DNA - pmids: - - "28104621" - - text: we demonstrated that KRAS-mutant CRC cells could become adaptive to glutamine depletion through asparagine biosynthesis by ASNS - pmids: - - "27764698" - - text: "Our population-based study of 1,081 patients with refractory, KRAS exon 2 wild-type mCRC suggests a possible OS benefit with the combination of Cmab + I compared to Pmab alone without an associated increase in toxicity.With a much larger sample size (n = 1081), our study was better powered to detect an OS difference between combination and EGFR monotherapy." - pmids: - - "28220486" - - text: A potential role for anti-IGF-1R agents in KRAS exon 2 mutant CRC. - pmids: - - "27681944" - - text: "Two genes, namely ZNF518B and EPDR1, exhibit a pattern of isoform abundance dependent on KRAS G13D and G12D mutations." - pmids: - - "27805251" - - text: "Overexpression of K-p21Ras was found in all colorectal cancer tissues tested, overexpression of N-p21Ras was found in 85.7% of the colorectal cancertissues, while H-p21Ras expression was not found in any colorectal cancer tissue." - pmids: - - "28259994" - - text: Our data suggest a possibility that miR-487b may suppress metastasis of colorectal cancer progression through inhibition of KRAS - pmids: - - "28000854" - - text: No relationship was noted between KRAS mutation status and standardized uptake value of fluorodeoxyglucose F18. - pmids: - - "28422979" - - text: RAS mutation in mCRC metastasectomy patients was associated with shorter overall survival - pmids: - - "27004837" - - text: Our findings indicate that BRAF and KRAS mutations as well as mutation heterogeneity predict poor outcome in CRC patients subsequent to liver resections and might help guide treatment decisions. - pmids: - - "26991344" - - text: "Report KRAS, NRAS, PIK3CA, and BRAF mutational profile in poorly differentiated clusters of KRAS-mutated colon cancer may depend on tumor histology." - pmids: - - "28025078" - - text: Oncogenic mutations in Her-2/neu or k-ras had no association with the severity of endometrial cancer. - pmids: - - "27343315" - - text: A concordance rate of 81.0 % was detected in KRAS mutation between primary tumor and metastatic lesion in Chinese patients with colorectal cancer - pmids: - - "27270901" - - text: "The present study evaluated the mutation percentage of two well-known drivers of colorectal cancer (KRAS) and melanoma (BRAF) to further elucidate other risk factors in anal cancer development. In conclusion, a low percentage of mutation was identified in squamous cell carcinoma, adenocarcinomas and highgrade squamous intraepithelial lesion." - pmids: - - "27573925" - - text: this meta-analysis suggests that K-Ras mutations are associated with a worse overall survival in pancreatic cancer patients - pmids: - - "27225938" - - text: Patients with the KRAS-variant with head and neck squamous cell carcinoma significantly benefit from the addition of cetuximab to radiotherapy - pmids: - - "28006059" - - text: "Mutations in BRAFV600E were significantly associated with worse survival after recurrence (SAR) in patients with recurrent stage III colon cancer, and worse SAR for BRAFV600E or KRAS mutant tumors was more strongly associated with distal cancers." - pmids: - - "28006055" - - text: SP174 immunohistochemistry allows sensitive detection of NRAS and KRAS Q61R mutants. - pmids: - - "28353383" - - text: this study shows that combining the analysis of KRAS mutational status and computed tomographic features could better predict survival in patients lung adenocarcinoma - pmids: - - "26712103" - - text: KRAS mutation is associated with colorectal cancer. - pmids: - - "27444698" - - text: KRAS mutation is associated with colorectal liver metastasis. - pmids: - - "27566041" - - text: Braf and Kras genes mutation were reveled in gastritis and adenocarcinoma patients. - pmids: - - "27116958" - - text: KRAS mutant status is associated with distant recurrence of rectal cancer - pmids: - - "28314302" - - text: The KRAS gene mutations (especially in codon 12) are the most frequent genetic abnormalities both in primary and in central nervous system metastatic lesions of non-small cell lung cancer. - pmids: - - "25902737" - - text: High KRAS mutation rate is associated between primary colorectal cancer and corresponding metastases. - pmids: - - "28000889" - - text: "EGFR and KRAS mutations have a predictive role on brain metastases incidence, recurrence and outcome in Caucasian Non-Small Cell Lung Cancer patients." - pmids: - - "27999344" - - text: Data indicate that ninety-three percent of the patients had KRAS protein mutations in tumor DNA. - pmids: - - "26684859" - - text: "multiregion analysis was performed in 60 spatially separated tumor areas according to the pathological tumor node metastasis (pTNM) staging and KRAS, NRAS and BRAF mutations were tested using pyrosequencing.these results suggest the need for multiple RAS testing in different parts of the same tumor and/or more sensitive techniques." - pmids: - - "27916952" - - text: "The aim of the current study was to clarify the frequency of relevant alterations of the 3'UTR regions of the KRAS gene and the effect of KRAS 3'UTR polymorphisms on the prognosis of patients with codon 12, 13 and 61 mutations in a Turkish population with pancreatobiliary tumors" - pmids: - - "27256640" - - text: "KRAS mutation was found in 38 (81%) cases, of which 12 (32%) showed intratumor heterogeneity (ITH) and 9 (23%) were found to have KRAS mutant allele amplification." - pmids: - - "26646269" - - text: "the central autophagy regulator TFEB is expressed and active in PDAC, but autophagy is sustained after TFEB knockdown, suggesting alternative bypass signaling. TFEB is dispensable for gemcitabine-induced cell death, but inversely correlated with KRAS expression." - pmids: - - "27175909" - - text: "Our results suggest that KRAS mutation status could have some predictive and prognostic importance in rectal cancer when analyzed together with other parameters, such as VEGF and Ki67 expression." - pmids: - - "27184911" - - text: Data suggest that the rs61764370 single nucleotide polymorphism may be associated with an increased risk of metastatic disease in osteosarcoma (OS) by disrupting the interaction between microRNA let-7a and KRAS mRNA. - pmids: - - "27430246" - - text: Codon 12 of exon 2 of K--ras gene detected by modified mismatch PCR-RFLP assay is significantly associated with liver metastasis in CRC patients during the first 5 years after surgery. - pmids: - - "28169239" - - text: The results of our study are compatible with other studies and indicate the correlation between K-ras gene mutation and colorectal cancer incidence. Identification of K-ras gene mutation may complement other diagnostic methods at early stage of colorectal cancer. - pmids: - - "27096769" - - text: "These results indicated that genotype. GT/GG of rs61764370 was not a genetic susceptible risk factor for cancer, and rs61764370 could not be used as a biomarker for estimating cancer risk in Caucasian population." - pmids: - - "27461636" - - text: KRAS mutation is associated with lung cancer. - pmids: - - "27793187" - - text: "Activating EGFR mutations were found in 14.1% of all tumors, whereas KRAS mutations were found in 30.5% of all tumors." - pmids: - - "27373829" - - text: "findings demonstrate that KRAS affects the homeostasis of MA4-expressing HSPCs, suggesting that KRAS activation in MA4(+) B-ALL is important for tumor maintenance rather than initiation" - pmids: - - "26837759" - - text: "study evaluated the KRAS oncogene and its relationship with clinicopathologic features in 33 Kurdish colorectal cancer patients; 12 samples had a nucleotide change, 11 in codon 12 and 1 in codon 13; there was no significant relationship between the mutation and clinical and pathological aspects of the disease" - pmids: - - "27509933" - - text: Data suggest that genotyping for KRAS and BRAF mutation status is a gold standard for categorizing colorectal cancer (CRC) for clinical decisions. - pmids: - - "28179313" - - text: Inhibition of EGFR and KRAS downstream with a P13K/Akt inhibitor could be useful for treating NSCLC. - pmids: - - "27121230" - - text: "recent years, there has been significant advancement in the understanding of the biology of KRAS and its downstream effectors. This has translated into a multitude of important preclinical studies and clinical trials that are currently underway to find effective therapeutic drugs for KRAS mutant lung cancer recent years, there has been significant advancement in the understanding of the biology of KRAS and its downstream" - pmids: - - "27100819" - - text: "Study shows the prevalence of mutations in codons 12 and 13 of K-ras exon 2 comparable between the Middle Eastern population and previous reports from the region. These mutations were associated with adverse features during presentation of the disease, including higher serum CEA, and also associated with poor outcomes in patients presenting with both early and advanced stages of the disease." - pmids: - - "28218784" - - text: overactivity of KRAS due to mutation inhibits localization of Ago2 to multivesicular endosomes (MVEs) and decreases Ago2 secretion in exosomes. - pmids: - - "27117408" - - text: RAS mutations constitute a frequent molecular event in RET-negative sporadic medullary thyroid carcinoma in Polish patients. - pmids: - - "25931041" - - text: KRAS mutation is associated with lung adenocarcinomas. - pmids: - - "26882436" - - text: KRAS mutation is associated with response to therapy in pancreatic cancer. - pmids: - - "26684803" - - text: These data suggest that SIRT1 is involved in hydroquinone -induced malignant transformation associated with suppressing p53 signaling and activation of KRAS. - pmids: - - "27515134" - - text: oncogenic KRas-induced increase in fluid-phase endocytosis has a key role during cellular transdifferentiation in pancreatic acinar cells. This result supports emerging evidence for endocytosis playing a crucial role in regulating the signaling output of the cells - pmids: - - "28057438" - - text: High KRAS expression is associated with hepatocellular carcinoma. - pmids: - - "27488117" - - text: miR-613 is frequently downregulated in ovarian cancer and is a potential tumor-suppressing miRNA that may decrease ovarian cancer development and/or progression. KRAS regulation by miR-613 might play a role in its regulation of the malignant behavior of ovarian cancer. - pmids: - - "26631045" - - text: "Rare mutations in KRAS, NRAS, and BRAF oncogenes have been found in patients with melanoma and colorectal neoplasms." - pmids: - - "28091917" - - text: comparison of the survival of patients with tumors harboring G12V/A KRAS mutations with those harboring wild-type KRAS gene revealed that G12V/A KRAS mutations are prognostic biomarker for inferior PFS and OS in patients with mCRC treated with bevacizumab in univariate as well as multivariable analyses. - pmids: - - "26662311" - - text: RAS proteins are essential for intracellular signal transmission. - pmids: - - "27146067" - - text: KRAS mutation status was an independent predictor of overall survival among patients undergoing liver resection of colorectal liver metastases. - pmids: - - "27264476" - - text: "a novel EWSR1/ETS chimeric gene, was identified in a patient diagnosed with refractory AML, suggesting a potential role of leukemogenesis in rare cases of AML. This fusion gene is very likely to exhibit oncogenic potential by interfering with the p53/p21-dependent pathway." - pmids: - - "27627705" - - text: KRAS rs61764370 polymorphism is significantly associated with risk and prognosis of gallbladder malignancy in this endemic belt in North India. - pmids: - - "27620744" - - text: our findings demonstrate that coexpression of Bmi1 and KRASG12D could lead to transformation of human pancreatic duct-derived cells cells in vitro - pmids: - - "26951514" - - text: "upregulated miRNA-622 inhibited cell proliferation, migration, and invasion via repressing K-Ras in the progression of glioblastoma, and miR-622-K-Ras pathway can be recommended as a potential target for treatment of glioblastoma" - pmids: - - "26596833" - - text: rs61764370 and rs712 polymorphisms of the KRAS are functional and it may play an important role in the development of colorectal cancer (CRC) and oxaliplatin-based chemotherapy efficiency and prognosis of CRC. - pmids: - - "26515332" - - text: "The recurring expression of NF-kB, SHH, K-RAS, and PTX3 in vimentin- and CD44-positive breast cancer cells allows to speculate that breast cells acquire the ability to express these molecules in concomitance to EMT phenomenon." - pmids: - - "26563370" - - text: "KRAS mutations were associated with N stage, a polypoid pattern, axial tumor length, and the ratio of the axial to the longitudinal dimensions of the tumor." - pmids: - - "27630331" - - text: None of the clinicopathological parameters were associated with the expressions of FIH-1 and SOCS3 at mRNA level. - pmids: - - "26749281" - - text: KRAS gene mutations are associated with Urinary Bladder Cancer. - pmids: - - "27356691" - - text: KRASG12V may be a marker of adenomatoid odontogenic tumors - pmids: - - "26979257" - - text: "Authors identified 9 neoplasms, all invasive mucinous adenocarcinomas or mixed mucinous/nonmucinous adenocarcinomas, with mutations of KRAS." - pmids: - - "26829311" - - text: The rs61764370 Functional Variant in the KRAS Oncogene is Associated with Chronic Myeloid Leukemia Risk. - pmids: - - "27221928" - - text: Data show that expressions of histone deacetylase 6 protein (HDAC6) and c-myc protein are increased in fibroblasts transformed with activated K-ras protein. - pmids: - - "26848526" - - text: KRAS mutations are Associated with Metastatic Colorectal Cancer. - pmids: - - "26925650" - - text: It was concluded that a serum sample might alternatively be used when it is difficult to obtain tumor tissues for analyzing the status of KRAS mutation in patients with advanced colorectal cancer. - pmids: - - "25687873" - - text: The biomarkers KRAS/p16/beta-catenin could be used as a combined biomarker for prediction of local recurrence and stratification of the risk for further surgery - pmids: - - "27798894" - - text: Analysis of KRAS mutation combined with immunohistochemical expression of CD44 and CD166 identified subgroups of patients with colon adenocarcinoma at higher risk of lymph node involvement by the tumor and development of liver and lung metastasis. - pmids: - - "27062566" - - text: No easily clinically assessable parameter was significantly associated with KRAS mutations in patients with colorectal cancer. - pmids: - - "27466537" - - text: KRAS Mutation is associated with Metastatic Colorectal Cancers. - pmids: - - "27039744" - - text: KRAS Mutations are associated with response to therapy in Metastatic Colorectal Cancer. - pmids: - - "27221845" - - text: "Activating HRAS, KRAS and EGFR mutations play a major role in the pathogenesis of sporadic SGH. These results support the concept that SGH is a true benign neoplasm rather than a reactive hyperplasia." - pmids: - - "26804118" - - text: K-ras mutation is associated with pancreatic cancer. - pmids: - - "27183870" - - text: "KRAS and, infrequently, BRAF mutations are observed in a subset of small intestinal adenocarcinomas, and are associated with higher pT classification and more frequent pancreatic invasion" - pmids: - - "26892442" - - text: "Similarly, there was no association between KRAS mutation status and survival parameters. As a result, the effect of KRAS mutation status on clinicopathological features, survival time and prognosis is unclear." - pmids: - - "27072218" - - text: KRAS mutation is associated with lung cancer. - pmids: - - "26636714" - - text: KRAS mutations are associated with non-small-cell lung cancer. - pmids: - - "26789109" - - text: Clinical relevance of circulating KRAS mutated DNA in plasma from patients with advanced pancreatic cancer. - pmids: - - "26725968" - - text: KRAS mutations are associated with non-small-cell lung cancer. - pmids: - - "26840022" - - text: "Molecular dynamics simulations help provide a mechanistic explanation of key mutational events in one of the most oncogenic proteins in cancer, KRAS-4B." - pmids: - - "26902995" - - text: KRAS mutation is associated with pancreatic cancer. - pmids: - - "26771140" - - text: Mutant KRAS Conversion of Conventional T Cells into Regulatory T Cells - pmids: - - "26880715" - - text: There were not statistical significant differences between carriers of KRAS mutated alleles between SD and PD groups. No significant difference was found between response rates and toxicity and DPD or UGT1A1 genotypes. Our results suggested that determination of DPD or UGT1A1 genotypes could not be useful for predicting severe toxicity of irinotecan in our population. - pmids: - - "27072236" - - text: KRAS mutation is associated with colon cancer. - pmids: - - "26799289" - - text: KRAS mutation is associated with liver cancer. - pmids: - - "26799184" - - text: Variation in KRAS driver substitution distributions between tumor types is determined by both mutation and natural selection. - pmids: - - "26902163" - - text: Data indicate that a RAS mutation was found in 24 thyroid aspirates with 8 NRAS and 16 KRAS. - pmids: - - "26260959" - - text: KRAS mutations in lung adenocarcinoma were not associated with asbestos exposure. - pmids: - - "26463840" - - text: "These results revealed differences in the genetic profiles of KRAS, NRAS, PIK3CA and BRAF at mutation hotspots between Chinese CRC patients and those of Western countries." - pmids: - - "26691448" - - text: Ras overexpression outcome depends on the clonogenic potential of the recipient keratinocyte and that only the stem cell compartment is competent to initiate tumorigenesis. - pmids: - - "26795563" - - text: KRAS and BRAF mutation analysis could be used in the selection of patients for anti-EGFR therapy. - pmids: - - "25267307" - - text: Thus ERK5 signaling is unlikely to play a role in tumor cell proliferation downstream of KRAS or BRAF or in tumor cells with ERK5 amplification. These results have important implications for the role of ERK5 as an anti-cancer drug target - pmids: - - "26959608" - - text: Results show that oncogenic KRAS can activate Rho through miR-31-mediated regulation of RASA1 indicating miR-31 acts as a KRAS effector to modulate invasion and migration in pancreatic cancer. - pmids: - - "26747707" - - text: "Forty-nine paired tissues with both primary adenocarcinoma of lung and matched brain metastasis were collected. Thirteen patients (26.5%) were discordant for the status of EGFR between primary and metastatic sites. K-ras gene could be checked in paired specimens from 33 patients, thirteen patients (39.6%) were discordant for the status of K-ras." - pmids: - - "27070580" - - text: "Development of Brain metastases (BM) from colorectal cancer (CRC) is associated with young age, lung metastases, rectal primary and KRAS mutation." - pmids: - - "27037031" - - text: "Prognosis impact of KRAS mutations in non-small cell lung cancer.[review]" - pmids: - - "26520779" - - text: This study failed to show improvement in ORR or PFS with combination therapy of selumetinib and erlotinib over monotherapy in KRAS mutant and KRAS wild-type advanced nonsmall-cell lung cancer - pmids: - - "26802155" - - text: KRAS engages AGO2 to enhance cellular neoplastic transformation. - pmids: - - "26854235" - - text: "KRAS mutations appear to be unrelated to clinical outcome in pancreatic cancer. [review]" - pmids: - - "26927447" - - text: "we employed a double-stranded toehold-exchange probe, which is labeled with fluorescent molecules (FAM) and quenchers (Dabcyl), to detect KRAS mutations in cancer tissues." - pmids: - - "26829579" - - text: "Results of APC and DCC LOH, KRAS and microsatellite instability indicate our colorectal cancer cases were typical of sporadic cancers following the 'chromosomal instability' pathway." - pmids: - - "26970738" - - text: "Based on the findings, it is concluded that the occurrence of the KRAS-LCS6 TG genotype was statistically significantly different in association with status of the HER2 gene in breast cancer." - pmids: - - "26077004" - - text: The data support an in vivo plasticity model of human colon cancer initiation that merges the intrinsic stem cell properties of aberrant colon stem cells with the embryonic stem cell-like program induced by KRASmut to optimize malignant transformation. - pmids: - - "26744320" - - text: Data show that KRAS protein codon 12 mutations were detected in 100% pancreatic ductal adenocarcinomas. - pmids: - - "26474433" - - text: oncogenic mutant K-Ras interacts with a negatively charged lipid bilayer membrane in multiple orientations. - pmids: - - "26958889" - - text: Results showed that the presence of KRAS activating mutations in patients with metastatic or recurrent non-small cell lung cancer are correlated with worse prognosis. - pmids: - - "26775593" - - text: "treatment response, survival, and the associations between KRAS mutation status and tumour expression levels of BRCA1, TYMS and SRC retrospectively in a cohort of patients with non-small cell lung cancer, were evaluated." - pmids: - - "26740498" - - text: Results show that the presence of KRAS mutation (especially KRAS G12C mutation) correlated with adverse prognosis in non-small cell lung cancer patients treated with second- or third-line pemetrexed or docetaxel. - pmids: - - "26977001" - - text: both mRNA and protein KRAS expression were significantly decreased in SCC-15 cells in which miR-126 was overexpressed. - pmids: - - "26883054" - - text: This study identifies the molecular basis for the S-phase arrest caused by Q deprivation in KRas-driven cancer cells that arrest in S-phase in response to Q deprivation. - pmids: - - "26921316" - - text: High KRAS expression is associated with Pancreatic cancer. - pmids: - - "26716649" - - text: The KRAS variant impact on breast cancer development risk. - pmids: - - "26710843" - - text: "Case Report: KRAS mutation-positive bronchial surface epithelium type lung adenocarcinoma with strong expression of TTF-1." - pmids: - - "26823891" - - text: No difference was found in overall survival between KRAS codon 12 versus codon 13 mutations in metastatic colorectal cancer - pmids: - - "26610798" - - text: "RAS mutation status may assist in identifying a particular sub-set of multiple myeloma patients, who especially benefit from ASCT in the era of novel agents." - pmids: - - "25947035" - - text: KRAS mutations are associated with response to therapy in metastatic colorectal cancer. - pmids: - - "26775732" - - text: KRAS mutation is a negative prognostic factor in mCRC patients undergoing LM. - pmids: - - "26715198" - - text: Studied the role of KRAS mutation status as a prognostic factor in surgically resected colorectal cancer patients with liver and lung metastases. - pmids: - - "26887348" - - text: Hsa-miR-1 suppresses breast cancer development by down-regulating K-ras and long non-coding RNA MALAT1 - pmids: - - "26275461" - - text: "Findings suggest that COX-2 deletion contributes to the repression of K-ras-induced lung tumorigenesis by reducing tumor cell proliferation, decreasing the production of PGE2, and increasing the production of 13,14-dihydro-15-keto-PGE2, possibly via the MAPK pathway." - pmids: - - "26452035" - - text: Data show that epidermal growth factor receptor (EGFR)-mediated signaling in mutant KRAS protein (K-ras) pancreatic cancer cells does not follow canonical mitogen-activated protein kinase (MAPK) signaling. - pmids: - - "26262587" - - text: The results suggest a prevalence of KRAS mutation at 42.8% in Indian population. - pmids: - - "26842186" - - text: "This confirms the heterogeneity of KRAS mutations and could suggest to expand KRAS testing in SCC to assess impact of RAS in SCC, which remains poorly investigated." - pmids: - - "26520186" - - text: The concept that cotargeting MEK and CDK4/6 would prove efficacious in KRAS-mutant (KRAS(mt)) colorectal cancers. - pmids: - - "26369631" - - text: "As a consequence, Slug transcription is down-regulated relieving A549 cells from Slug-mediated repression of E-cadherin transcription, thereby diminishing the metastatic potential of these oncogenic Ras-expressing NSCLC cells" - pmids: - - "26810856" - - text: "As depicted in Figure 3, APC (25%) followed by KRAS (20%), TP53 (14%), and PIK3CA (11%) were the most frequently mutated genes." - pmids: - - "26650777" - - text: Overexpression of mTORC1 is associated with pancreatic cancer cells expressing mutant Ras. - pmids: - - "26575954" - - text: These results indicate that CREG1 is a down-stream effector of KRAS in a sub-type of non-small cell lung cancer cells and a novel candidate biomarker or therapeutic target for KRAS mutant non-small cell lung cancer. - pmids: - - "26722374" - - text: KRAS Mutations are associated with Non-Small-Cell Lung Cancer. - pmids: - - "26432508" - - text: The TG/GG of KRAS-LCS (rs61764370) had a benefit from docetaxel treatment compared with the TT allele in terms of PFS. - pmids: - - "26573509" - - text: Data show that Ras protein regulates inhibitor of growth protein 4 (ING4)-thymine-DNA glycosylase (TDG)-Fas protein axis to promote apoptosis resistance in pancreatic cancer. - pmids: - - "26544625" - - text: "KRAS mutations are more common in females and smokers, but are not associated with chronic obstructive pulmonary disease status in non-small cell lung cancer patients." - pmids: - - "27008036" - - text: "use of sorafenib has been ineffective in the management of advanced Colorectal cancer (CRC) patients with KRAS mutation, combination of selective BRAF inhibitors plus EGFR inhibitors may represent a good therapeutic strategy in BRAF-mutant CRC." - pmids: - - "26616508" - - text: mEGFR are associated with higher response rate (RR) to brain metastasis radiotherapy than wild-type EGFR/RAS or mKRAS. - pmids: - - "26616848" - - text: "A high molecular and genetic concordance between primary tumor (PR) and PDX was confirmed by the evaluation of biliary epithelial markers, tissue architecture, genetic aberrations (including K-RAS G12D mutation), and transcriptomic and microRNA profiles" - pmids: - - "26868125" - - text: Aurora kinases are important KRAS targets in lung cancer. - pmids: - - "26842935" - - text: "As an example of the application of this platform we performed the analysis of six common mutations in the codon 12 of KRAS gene (G12A, G12C, G12D, G12R, G12S, and G12V)." - pmids: - - "26655175" - - text: Negative correlation between KRAS mutation and oncological outcome after resection of colorectal liver metastasis. - pmids: - - "26428229" - - text: Data indicate that tumors with proto-oncogene proteins BRAF or KRAS mutations were in correlation with elevated serum level of carbohydrate antigen (CA19-9) and carcinoma embryonic antigen (CEA). - pmids: - - "26530529" - - text: "combined pan-RAF and MEK inhibition can overcome intrinsic and acquired resistance to single-agent RAF/MEK inhibition, supporting dual pan-RAF and MEK inhibition as a novel therapeutic strategy for BRAF- and KRAS-mutant cancers" - pmids: - - "26351322" - - text: We observed no statistically significant association between BC risk and the let-7a KRAS rs712 polymorphism - pmids: - - "26681038" - - text: "In lung adenocarcinomas, EGFR mutation was higher in female and non-smoking patients, KRAS mutation only in patients with wild-type EGFR gene was higher." - pmids: - - "26582224" - - text: our study suggested that black rice anthocyanins extract suppress metastasis in breast cancer cells by targeting the RAS/RAF/MAPK pathway - pmids: - - "26649302" - - text: Kras single nucleotide polymorphisms rs12228277 and rs61761074 of intron 2 result in differential binding patterns of lung nuclear proteins.Rs61761074 demonstrated a significant correlation with allele frequency in non-small-cell lung cancer. - pmids: - - "26648033" - - text: "In three cases of papillary carcinoma arising in struma ovarii (PSCS), novel BRAF and KRAS mutations were identified in two of three tumors suggesting that mutations in PCSO may differ from those commonly identified in papillary carcinoma of the eutopic thyroid." - pmids: - - "26362194" - - text: "No relation was found between the K-ras oncogene mutation and reduced survival, in contrast to what has been established in the international medical literature" - pmids: - - "25216999" - - text: KRAS Mutation is associated with recurrence in Colorectal Liver Metastases. - pmids: - - "26077912" - - text: The KRAS mutated Colorectal Cancers have less aggressive phenotype in comparison to the BRAF-mutated Colorectal Cancers. - pmids: - - "27082577" - - text: "PIK3CA mutations were observed in 32% (8) of the 25 breast cancer tissues examined, Sequencing of exon 2 of KRAS suggested that 20% (5) of the 25 samples harbored a mutation and 16% (4) of BRAF harbored a mutation." - pmids: - - "26600545" - - text: patients with KRAS mutations except for patients with KRAS codon 13 mutations that seem to be resistant to neoadjuvant CRT and less likely to achieve a pCR. - pmids: - - "25702261" - - text: Ras.GDP weakly binds to the catalytic but not to the allosteric site of Sos. - pmids: - - "26565026" - - text: "let-7 is a tumor suppressor that negatively regulates RAS, also in Ewing Sarcoma, and HIF-1alpha may contribute to the aggressive metastatic behavior of Ewing Sarcoma" - pmids: - - "26393682" - - text: The combination of tivantinib and CETIRI was well tolerated but did not significantly improve PFS in previously treated KRAS WT metastatic colorectal cancer - pmids: - - "26891420" - - text: RAS and BRAF wild-type status could help select an elderly and unfit population that could benefit from anti-epidermal growth factor receptor single agent therapy. - pmids: - - "26446234" - - text: KRAS/NRAS mutations are common in mesonephric carcinoma and are often accompanied by gain of 1q and mutations in chromatin remodeling genes - pmids: - - "26336887" - - text: K-Ras mutation is associated with response to chemotherapy in metastatic colorectal cancer. - pmids: - - "26384309" - - text: the presence of KRAS mutations has a mild negative impact on overall survival in advanced NSCLC patient treated with a first-line platinum-containing regimen - pmids: - - "26416458" - - text: KRAS Mutation is associated with response to therapy in Rectal Cancer. - pmids: - - "27064574" - - text: KRAS mutant circulating free DNA was detected in patients with exocrine pancreatic cancer and associated with overall survival. - pmids: - - "26498594" - - text: Here we aimed to investigate the relationship between KRAS rs712 polymorphisms and hepatocellular carcinoma susceptibility - pmids: - - "26535719" - - text: "NF2/merlin inactivation augments mutant RAS signaling by promoting YAP/TEAD-driven transcription of oncogenic and wild-type RAS, resulting in greater MAPK output and increased sensitivity to MEK inhibitors." - pmids: - - "26359368" - - text: Results suggest a different pattern of sensitivity/resistance to cisplatin depending on the Kirsten Ras protein (KRAS) mutational status. - pmids: - - "26353932" - - text: "detection of somatic KRAS A146T and Q61H mutations in 2 out of 4 (50%) sarcomatoid Salivary duct carcinoma variants, is reported." - pmids: - - "26289340" - - text: KRAS mutant lung adenocarcinomas appear to have a more intricate RAS linked signaling network than WT tumors. - pmids: - - "26468985" - - text: "BRAF, NRAS and KRAS gene mutations in plasma cell dyscrasias may have a role MEK-ERK pathway activation" - pmids: - - "26090869" - - text: the RAS mutation in lymphoid cells is tightly linked with various autoimmune symptoms. The presence of the RAS mutation in lymphocytes should be reconsidered as a pathogenesis in cases of autoimmunity. - pmids: - - "26933204" - - text: Colorectal cancer-related mutant KRAS alleles function as positive regulators of autophagy. - pmids: - - "26418750" - - text: conclude that from the point of view of practical KRAS mutation testing for predictive purposes in patients with colorectal cancer - pmids: - - "27179269" - - text: Low incidence of KRAS mutations in adenocarcinomas of the ampulla of Vater suggest no major role in tumorigenesis. - pmids: - - "26997442" - - text: KRAS mutations are not associated with inferior progression-free and overall survival in advanced NSCLC patients treated with standard first-line platinum-based chemotherapy. - pmids: - - "26471290" - - text: The therapeutic potential of PKCiota-ELF3-NOTCH3 signal inhibition to more effectively treat KRAS LADC. - pmids: - - "26977885" - - text: Studies indicate that KRAS and NRAS mutations are currently recognized as the best predictive factors for primary resistance to anti-EGFR monoclonal antibodies. - pmids: - - "26318427" - - text: The incidence of missense mutations in KRAS was much higher in patients with early treatment failure than in other groups - pmids: - - "26009992" - - text: Data suggest that Src kinases inhibitors may act with different mechanisms in non-small cell lung cancer (NSCLC) depending on EGF receptor (EGFR)/Ras protein (Ras) mutational profile. - pmids: - - "26325669" - - text: mTORC1/SREBP pathway is a major mechanism through which common oncogenic signaling events induce de novo lipid synthesis to promote aberrant growth and proliferation of cancer cells - pmids: - - "26028026" - - text: Data show that microRNA miR-365 could inhibit the proliferation and promote the apoptosis in SOSP-9607 osteosarcoma cells probably by mediating the expression of KRAS protein. - pmids: - - "26728377" - - text: CDK1 is a synthetic lethal target for KRAS mutant tumors. - pmids: - - "26881434" - - text: Co-transduction of Kras(G12D) and AML1/ETO induces acute monoblastic leukemia. - pmids: - - "24480914" - - text: The significant association between mutated KRAS and tumor grade suggests that KRAS mutations may be involved in the formation of poorly differentiated clusters (PDC) of neoplastic cells in colorectal cancer - pmids: - - "26352110" - - text: MUC1 expression significantly correlated with that of MYC and its target genes in human KRAS mutant NSCLC tumors. - pmids: - - "26833129" - - text: "anti-EGFR therapy is restricted to KRAS wild-type patients as it has been shown that KRAS exon 2-mutated patients do not respond to this therapy--{REVIEW}" - pmids: - - "26347132" - - text: KRAS mutation neither on primary tumor nor in circulating tumor cells was associated with clinical-pathological parameters in metastatic colorectal cancer. - pmids: - - "26252055" - - text: "Data show that 11/105 patients failed all molecular analysis: no mutations in oncogenes EGFR, KRAS and NRAS were detected, and no ALK gene rearrangements or MET gene amplifications were identified." - pmids: - - "26581482" - - text: "Confirm contribution of PTPRZ1, and especially PTPRQ, in CRC carcinogenesis and demonstrated that PTPRQ expression is correlated with KRAS mutation." - pmids: - - "26851024" - - text: KRAS mutations are associated with nonsmall-cell lung cancer. - pmids: - - "26209642" - - text: "The HSP90 inhibitor, NVP-AUY922, sensitizes KRAS-mutant non-small cell lung cancer with intrinsic resistance to MEK inhibitor, trametinib." - pmids: - - "26723875" - - text: "In operated pancreatic adenocarcinoma, incidence of mutations was: Kirsten rat sarcoma viral oncogene homolong (KRAS) = 87%." - pmids: - - "26754455" - - text: The KRAS gene may contribute to the formation of borderline mucinous cystadenoma. - pmids: - - "26400304" - - text: "KRAS and PIK3CA mutations can influence the response of DLD1 colorectal cancer cell lines to MEK and PI3K inhibitors, but that the effect is dependent on the experimental model used to assess drug sensitivity." - pmids: - - "26820797" - - text: "analysis of HRAS, KRAS and NRAS expression in colorectal tumor cells" - pmids: - - "26560143" - - text: "Meta-analysis: no significant difference between KRAS G13D and other KRAS mutant colorectal tumours in terms of treatment benefit from anti-EGFR mAbs." - pmids: - - "26812186" - - text: "Kras insertion mutations cause reduced intrinsic GTP hydrolysis rates, protein accumulation in the GTP-bound conformation and resistance to GAP-mediated GTP hydrolysis. Kras with switch 2 insertions are impaired for PI3 kinase binding and Akt activation." - pmids: - - "26854029" - - text: miR-1 was suppressed by LMP1 and its tumour-suppressive effects were mediated chiefly by repressing K-ras expression in nasopharyngeal carcinoma. - pmids: - - "26852690" - - text: SLFN11 expression predicts good better survival in colorectal cancer patients with KRAS exon 2 wild type who have received oxaliplatin based adjuvant chemotherapy. - pmids: - - "26525741" - - text: Demonstrate a correlation between occurrence of DPYD gene variant c.496A>G and KRAS wild type status of colorectal cancer tissue. - pmids: - - "26281864" - - text: miR-155 plays an important role in oncogenic K-Ras transformation mediated by cellular redox regulation - pmids: - - "26020803" - - text: KRAS promoter oligonucleotide with decoy activity dimerizes into a unique topology consisting of two G-quadruplex units.Nucleotides of the MAZ binding G-rich motif are dynamic and could be available for sequence or structure based recognition - pmids: - - "26656490" - - text: "Using the extensive guanine-rich region of the kRAS core promoter, and particularly the G4mid structure, future drug discovery programs will have potential to develop a potent, specifically targeted small molecule to be used in the treatment of cancers" - pmids: - - "26597160" - - text: miR-31 directly targets and reduces expression of negative regulators of RAS/MAPK signaling - pmids: - - "26657862" - - text: "Data show that tet methylcytosine dioxygenase 2 TET2, isocitrate dehydrogenases 1/2 IDH1/IDH2, serine/arginine-rich splicing factor 2 SRSF2, splicing factor 3b subunit 1 SF3B1, and ras proteins (KRAS/NRAS) are not conserved in dog mast Cell tumors." - pmids: - - "26562302" - - text: "KRAS and BRAF oncogenes have roles in colorectal cancer development and therapy resistance [review]" - pmids: - - "26299805" - - text: "Elevated calcium levels clinically observed in adenocarcinomas may explain calmodulin's involvement in recruiting and stimulating PI3Kalpha through interaction with its n/cSH2 domains as well as K-Ras4B; importantly, it also explains why K-Ras4B specifically is a key player in ductal carcinomas, such as pancreatic, colorectal, and lung cancers. [Review]" - pmids: - - "26085527" - - text: LGALS9/galectin-9 induces fatal frustrated autophagy in KRAS mutant colon carcinoma that depends on elevated basal autophagic flux - pmids: - - "26086204" - - text: Data suggest bisphenol S binds to K-Ras4B binding pocket previously identified as binding site for various low molecular weight compounds including bisphenol A (another plasticizer/endocrine disruptor). - pmids: - - "26867649" - - text: "The structural data and measurements, obtained herein, indicate that measurable biochemical properties provide clues for identifying KRAS-driven tumors that preferentially signal through RAF." - pmids: - - "26037647" - - text: The high-resolution melting method developed was shown to be a reliable method for KRAS mutation detection - pmids: - - "24859998" - - text: K-Ras stabilization by estrogen via PKCdelta has a role in endometrial tumorigenesis - pmids: - - "26015399" - - text: CREB plays a key role in the K-RAS(V12)-mediated neoplastic phenotype and represents a suitable therapeutic target for murine and human K-RAS(V12)-induced tumors - pmids: - - "25934695" - - text: "Case Report: undifferentiated pleomorphic sarcoma with two missense mutations - KRAS mutation (35G > A, G12D) and PIK3CA mutation (1636C > A, Q546K." - pmids: - - "26339434" - - text: The RAS/MAPK and PI3K/mTOR pathways are activated in the majority of cases of UPS. The RAS/MAPK pathway distinguishes a subgroup of patients with localized UPS with a worse outcome. - pmids: - - "26479291" - - text: FOLFOX adjuvant chemotherapy benefits patients with stage II or III colorectal cancer with KRAS mutant tumors and is worth further investigation - pmids: - - "25864038" - - text: "BRAF and KRAS mutations show together a high prevalence in stage II and III MSI colon cancer and, when combined, are associated with poor survival compared to dWT cancers, which status confers an excellent cancer-specific survival." - pmids: - - "26376292" - - text: EGFR and KRAS mutation status are both predictive factors for the treatment efficacy. - pmids: - - "26055897" - - text: Modulation of Polycomb repressive complexes by either Ezh2 overexpression or Eed deletion enhances KRAS-driven adenomagenesis and inflammation - pmids: - - "26766588" - - text: An inflammatory cue from oncogenic hepatocytes upon induction of kras(V12) expression causes a rapid recruitment of neutrophils to oncogenic liver and the neutrophils play a promoting role in early hepatocarcinogenesis. - pmids: - - "25828472" - - text: Data suggest that over-expression of lincRNA-p21 promotes up-regulation of p21 at both mRNA and protein levels in hepatic stellate cells; expression of lincRNA-p21 and p21 is down-regulated in cirrhotic liver patients as compared to normal subjects. - pmids: - - "26433205" - - text: Patients with CRC and KRAS wt may derive greater survival benefit from (90)Y radioembolization therapy than patients with KRAS mutant. - pmids: - - "26210240" - - text: "Report a mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix." - pmids: - - "26160192" - - text: KRAS activating mutation is relatively low in Korean colorectal cancer patients. - pmids: - - "25997687" - - text: MEK1/2 inhibitor trametinib showed similar PFS and a response rate as docetaxel in patients with previously treated KRAS-mutant-positive non-small cell lung carcinoma. - pmids: - - "25722381" - - text: Report KRAS mutations/copy number variations and chromosome aberrations in colorectal adenocarcinomas. - pmids: - - "26122820" - - text: Addition of cetuximab to GEMOX chemotherapy improved progress-free survival in biliary tract neoplasms but this did not correlate with KRAS mutation status. - pmids: - - "25632066" - - text: this study was unable to confirm that KRAS-driven tumor lines require macroautophagy for growth. - pmids: - - "26677873" - - text: "study concluded that 26% of patients had detectable FLT3-ITD or RAS mutation at transformation from myelodysplastic syndrome to acute myeloid leukemia, and these mutations were associated with very poor outcome" - pmids: - - "26547258" - - text: "CYP1B1, KRAS and MTHFR variants are associated with shorter telomere length in postmenopausal women" - pmids: - - "25987236" - - text: KRAS gene mutations may have a prognostic role in colorectal cancer - pmids: - - "26429158" - - text: "KRAS mutation may occur with MSI in colorectal cancers with wild-type BRAF. If a mutation in KRAS co-exists with MSI, then strong methylation of the MLH1 gene is unlikely" - pmids: - - "26523369" - - text: This study revealed that specific epidemiologic and clinicopathologic characteristics are associated with mismatch repair status stratified by KRAS mutation. - pmids: - - "26042813" - - text: Determination of mutated KRAS seems to be of limited value in predicting long-term outcome in adenoma in the major duodenal papilla. - pmids: - - "25971870" - - text: The incidence of KRAS mutations in Chinese patients with Esophageal Squamous Cell Carcinoma was not low. KRAS mutations were mainly located in codon 12. - pmids: - - "21615826" - - text: Differences in the KRAS mutational status during colorectal cancer disease progression. - pmids: - - "25248721" - - text: "Meta-analysis: robust estimates of overall RAS mutation prevalence and individual variation patterns in metastatic colorectal cancer patients." - pmids: - - "26049686" - - text: "EGFR and KRAS mutations were low in lung squamous cell carcinomas, and had no significant correlation with clinical features." - pmids: - - "26483334" - - text: Colon cancers from Asians have a lower rate of KRAS mutations than blacks or whites. - pmids: - - "26160882" - - text: "KRAS 3'-UTR rs712 polymorphism interfered with has-let-7g/mRNA interaction, and showed that the minor allele was associated with an elevated risk for development of lung cancer in COPD." - pmids: - - "26316738" - - text: KRAS mutations and SEPT9 promoter methylation were present in 34% (29/85) and in 82% (70/85) of primary tumor tissue samples. - pmids: - - "25946211" - - text: KRAS mutations are indicators of malignant transition in the progression to lung adenocarcinoma. - pmids: - - "26374070" - - text: "Our data show that combined targeting of MEK and PI3K-AKT with mTOR is a better option than single agents alone for KRAS mutant NSCLC, thus opening the possibility of a beneficial treatment strategy in the future." - pmids: - - "26108998" - - text: KRAS mutations are usually present in the majority of metastatic colorectal cancer cells. - pmids: - - "25851630" - - text: PIK3CA amplification may be an early and important event in colorectal carcinogenesis and may drive the development of left-side tubular adenomas independently with KRAS mutation. - pmids: - - "26019684" - - text: "Results show that KRAS expression is downregulated by miR-193b that targets its 3'-UTR in pancreatic ductal adenocarcinoma and dysregulation of the miR-193b-KRAS axis appears to be involved in pancreatic carcinogenesis." - pmids: - - "25905463" - - text: "In SW48 cells, exon 2 mutations of the KRAS gene may influence antitumor effects of regorafenib." - pmids: - - "26161928" - - text: KRAS mutation status seems to identify two different subtypes of pancreatic ductal adenocarcinoma with similar outcome but distinct molecular features and probably different therapeutic targets. - pmids: - - "26161927" - - text: The data suggest a role for redox-dependent activation of wild-type KRAS through cysteine 118 in oncogenic HRAS-driven tumorigenesis. - pmids: - - "25902334" - - text: KRAS mutational status can be determined in biopsies representing bronchial pulmonary carcinomas because when a mutation is present it is generally present in all the histological patterns - pmids: - - "25926253" - - text: "KRAS(G12V)-transformed cells in transgenic zebrafish showed activation of the ERK-MAP kinase pathway and expressed the zebrafish homologue for human CXCL8, a cytokine produced by mammalian Ras-transformed cells in tumor-associated inflammatory lesions." - pmids: - - "25798815" - - text: K-Ras self-association can regulate effector binding and activity. - pmids: - - "26051715" - - text: Estrogen withdrawal and a low estrogen state increase breast cancer risk in women with the KRAS-variant. - pmids: - - "25961464" - - text: Studied the role of PAK1/Crk axis in transduction of the oncogenic KRAS signal in non-small cell lung cancer (NSCLC). - pmids: - - "25956913" - - text: "miR-10b was selectively increased in exosomes of cells with wild-type KRAS, while miR-100 was increased in exosomes of cells with mutant KRAS." - pmids: - - "26132860" - - text: "Tissue micro array availability, BRAF mutation and KRAS mutation were all independent prognostic factors for colorectal cancer survival." - pmids: - - "26121270" - - text: "cyclin D1 expression cooperates with KRAS and PTEN alterations in pathogenesis of NSCLC, and they could serve as potential multiple molecular markers for specific subgroups of NSCLC patients as well as prognostic markers for this type of cancer." - pmids: - - "26055143" - - text: "data suggest one-step screening platform for KIF5B-RET as well as EGFR, K-RAS, ALK oncogenic mutations be necessary for lung adenocarcinoma patients" - pmids: - - "26268359" - - text: "Study reports that oncogenic K-Ras, but not H-Ras, suppresses non-canonical Wnt/Ca(2+) signaling, an effect that contributes strongly to its tumorigenic properties." - pmids: - - "26590425" - - text: "Data indicate that KRAS protein mutation detection in archival tumour tissue showed no correlation to survival, whereas plasma KRAS status remained a strong predictive and prognostic factor." - pmids: - - "26508156" - - text: KRAS mutations were associated with poorer overall survival of patients with pediatric B cell precursor acute lymphoblastic leukemia. - pmids: - - "24067137" - - text: "Secondly, we show the molecular consequences of allele imbalance by deletion of either, a wild-type or a mutant allele in KRASG13D/WT CRC cells" - pmids: - - "26110767" - - text: Latin American populations had a low frequency of KRAS mutations compared with European/North American populations. - pmids: - - "25634006" - - text: GTP Binding and Oncogenic Mutations May Attenuate Hypervariable Region (HVR)-Catalytic Domain Interactions in Small GTPase K-Ras4B - pmids: - - "26453300" - - text: activated K-Ras regulation of brain neural stem cells proliferation requires Raf binding and suppression of retinoblastoma (Rb) function - pmids: - - "25788415" - - text: "Each mutation generates a distinct signature, with the most variability seen between G13D and the codon 12 KRAS mutants" - pmids: - - "25599653" - - text: This study suggests that patients with mCRC with KRAS-mutated subclones (at least those with a KRAS-mutated subclones fraction lower or equal to 1%) had a benefit from anti-EGFR therapies. - pmids: - - "25248381" - - text: "Oncogenic KRAS sensitizes premalignant, but not malignant cells, to Noxa-dependent apoptosis through the activation of the MEK/ERK pathway." - pmids: - - "26028667" - - text: KRAS mutations were associated with stage IV lung adenocarcinoma adrenal metastases. - pmids: - - "25695224" - - text: KRAS gene mutation is associated with non small cell lung carcinoma. - pmids: - - "25637496" - - text: KRAS mutation is associated with metastatic lung adenocarcinomas. - pmids: - - "25415430" - - text: KRAS mutation is associated with endometrial carcinomas and concomitant hyperplasia. - pmids: - - "25768080" - - text: "In transgenic mice programmed to express both mutant oncogenes in the lung epithelium, the resulting tumors express either the KRAS, or the EGFR oncogene." - pmids: - - "26047463" - - text: "Data show that RAS protein activation was the initiating oncogenic event, with polycomb repressive complex 2 (PRC2) subunits impairment being a secondary event." - pmids: - - "26457648" - - text: "Deacetylation of K-Ras by Sirt1 increased the transformation of Ras-GTP to Ras-GDP, promoting the activation of downstream of ERK1/2. In reverse, Ras/ERK pathway could also regulate Sirt1 transcription." - pmids: - - "25894374" - - text: our studies suggest that Ras activation is a key determinant for dissemination and poor prognosis of ERalpha(+)/luminal breast cancer in humans - pmids: - - "26400062" - - text: High mesothelin expression was strongly associated with mutant KRAS/wild-type EGFR and poor prognosis in advanced lung cancer. - pmids: - - "26028668" - - text: Our results indicate that KRAS mutations are associated with inferior survival benefits for Non-Small Cell Lung Cancer but not for those treated with chemotherapies integrating cetuximab. - pmids: - - "26028111" - - text: Findings suggest that a high frequency of K-ras mutations occurs in Chinese metastatic colorectal cancer patients and that K-ras mutation is required to select patients for eligibility for cetuximab therapy. - pmids: - - "25950441" - - text: KRAS mutations are associated with poor prognosis in Non-Small Cell Lung Cancer patients. Good diagnostic performance obtained from Malignant pleural effusion samples for detecting KRAS mutations. - pmids: - - "25302858" - - text: "KRAS mutations portend a worse outcome with increased risk of recurrence in early-stage Non-small cell lung cancer and poorer survival in metastatic stage. It is associated with Adenocarcinoma subtype and smoking, and is common in Caucasian patients." - pmids: - - "25689095" - - text: Tumor mutant KRAS status is associated with an increased risk of venous thromboembolism in patients with metastatic colorectal cancer. - pmids: - - "25809746" - - text: "MEKi induced the expression of negative regulators of mTORC1, including TSC1, TSC2 and Deptor, which occurred more significantly in BRaf-mutant cells than in KRas-mutant cells." - pmids: - - "25703330" - - text: "The prognostic significance of KRAS gene mutations, evaluated by using two methods in patients with colorectal cancer, is reported." - pmids: - - "25713627" - - text: The results suggested that KRAS mutation could be associated with a reduced efficacy of chemoradiotherapy and a shortened survival time. - pmids: - - "26177347" - - text: "The presence of K-Ras mutations has prognostic value in colon cancer patients, and also predicts the responsiveness to inhibitors of EGFR signaling." - pmids: - - "24219000" - - text: "The prevalence of oncogenic RAS mutations was higher among Arab Asian children than in other countries. RAS mutations in AML were found to coexist with other genetic aberrations, particularly MLL rearrangement" - pmids: - - "26222068" - - text: "Although, the KRAS LCS6 is neither constitutional nor somatic biomarker for endometriosis, increased expression ratio of KRAS mRNA indicates its role in the implantation of endometrial tissue outside the uterine cavity." - pmids: - - "25361550" - - text: KRAS mutations are associated with response to chemotherapy in colorectal cancer. - pmids: - - "25628445" - - text: KRAS mutations are associated with Metastatic Colorectal Cancer. - pmids: - - "25666295" - - text: "Transfection of constitutively activated K-rasG12V in pancreatic cancer cells led to the transcriptional upregulation of MUC4 at the transcriptional level by AP-1, MAPK, JNK and NF-kappaB pathways and at the posttranscriptional level by RalB GTPase." - pmids: - - "26477488" - - text: "RAS-positive thyroid nodules, especially in older individuals, frequently demonstrate a benign phenotype.Cytologically benign nodules, even if RAS-positive, may be candidates for a non-operative observational strategy" - pmids: - - "26253102" - - text: KRAS mutations are frequent in our series of microsatellite instable cancers cases and are often found in a subpopulation of the tumour and not in the whole tumour - pmids: - - "26318594" - - text: RAS mutations are associated with colorectal carcinoma. - pmids: - - "26163758" - - text: the Eprobe system had a higher sensitivity for detecting KRAS mutations in colorectal cancer patient samples; these mutations could not be identified by Sanger sequencing - pmids: - - "25823645" - - text: "The aim of this study was to evaluate the prognostic role of MMR status, BRAF mutations and specific KRAS point mutation in 762 patients in Chinese population, and several clinicopathologic features to better stratify colorectal cancer patients" - pmids: - - "25929517" - - text: "A high rate of homozygous and heterozygous mutations of codon 12, but not codon 13 and 61, may influence the invasive ductal carcinoma of breast risk in the South Indian population." - pmids: - - "25921169" - - text: "Risk of recurrence was significantly lower for non-KRAS G12V (HR: 0.01, (0.001-0.08), P<0.0001)." - pmids: - - "26372703" - - text: Overexpression of mutant KRAS in Caco-2 cells led to an increase in CIP2A expression and cell proliferation. - pmids: - - "25896895" - - text: The presence of a KRAS mutation in colon cancer patients increases the likelihood of disseminated disease. - pmids: - - "25884297" - - text: "HER2 gene amplifications, and wild type KRAS genes are common in eyelid sebaceous carcinomas" - pmids: - - "25468813" - - text: KRAS amplification confers resistance to ROS1 targeting drugs in lung cancer. - pmids: - - "25691052" - - text: high-resolution melt and allele-specific PCR could detect as low as 1.25% KRAS- or BRAF-mutant alleles. - pmids: - - "25605225" - - text: The frequency of mutations in either KRAS or PIK3CA were significantly higher in patients without lymph node metastasis than those with. - pmids: - - "25815786" - - text: Vitamin C is selectively toxic to cells with mutant KRAS or BRAF alleles. - pmids: - - "26541605" - - text: "Among 264 patients, mutations in KRAS exon 2, KRAS exons 3 or 4, NRAS, BRAF and PIK3CA were detected in 34.1%, 3.8%, 4.2%, 5.4% and 6.4%, respectively. Thus, a total of 12.1% of patients without KRAS exon 2 mutations had other RAS mutations" - pmids: - - "25886136" - - text: Missense mutations were identified in the BRAF and KRAS genes in cutaneous melanoma cell line. - pmids: - - "25515650" - - text: "The K-ras mutational status of the primary colorectal cancer differed from that of the liver metastasis, and codon 13 mutations may explain such discrepancies." - pmids: - - "26026309" - - text: KRAS gene mutations were detected 11 of 24 cases in exon 4 mutations. - pmids: - - "25412182" - - text: This expert group recommends testing for KRAS and NRAS status in all patients with metastatic CRC being considered for anti-epidermal growth factor receptor (anti-EGFR) therapy - pmids: - - "25373533" - - text: BCL-XL up-regulation by STAT3 contributes to mutant KRAS-mediated apoptosis resistance. Such resistance can be overcome by potent BIM induction and concurrent BCL-XL antagonism - pmids: - - "26245900" - - text: LRP6 phosphorylation by ERK1/2 may provide a unique point of convergence between KRAS/MAPK and Wnt/beta-catenin signalings during oncogenesis - pmids: - - "25500543" - - text: mir206 targets ANXA2 and KRAS genes in pancreatic adenocarcinoma. - pmids: - - "25500542" - - text: "in different macroscopic subtypes of colorectal adenoma, KRAS mutation was noted more frequently in lateral spreading tumors than polypoid neoplasms; mutations in KRAS, BRAF or PIK3CA occurred in a mutually exclusive manner" - pmids: - - "25551625" - - text: KRAS codon 12 mutations specifically G12V and G12S mutations were associated with worse prognosis after resection of colorectal liver metastasis especially among patients with recurrence after surgery. - pmids: - - "26038887" - - text: "Based on our findings, we conclude that the hybcell-based compact sequencing technology represents a valuable alternative to the existing methods used for the detection of clinically relevant point mutations in the KRAS gene" - pmids: - - "25757545" - - text: Report low frequency of KRAS mutation in pancreatic ductal adenocarcinomas in Korean patients. - pmids: - - "25513781" - - text: KRAS mutations in both tumor tissue and plasma are a strong prognostic marker for poor outcomes in metastatic colorectal cancer. - pmids: - - "25491325" - - text: Data show that small molecule protein kinase inhibitor DEL-22379 blocks proliferation of tumor cells harboring RAS-ERK pathway oncogenes. - pmids: - - "26267534" - - text: EGFR and KRAS mutation were associated with non-small cell lung carcinoma. - pmids: - - "25936883" - - text: scFv(CD44v6)-conjugated nanocarriers provide a highly efficient and safe platform for KRAS suppression in pancreatic cancer. - pmids: - - "25401377" - - text: "ABL phosphorylates tyrosine 137 of H-, K-, and NRAS." - pmids: - - "25999467" - - text: (18)F-FDG PET/CT scans may be useful for predicting the KRAS status of metastatic CRC and help in determining the therapeutic strategies against metastatic CRC. - pmids: - - "26135109" - - text: this is the first study focused on the effect of statins in selected patients with advanced-stage NSCLC harbouring KRAS mutation treated with EGFR-TKIs. A randomized prospective clinical trial should be conducted to confirm our results in the future. - pmids: - - "25702091" - - text: KRAS and EGFR co-mutation was detected in one case. PPMA patients with ALK rearrangements or KRAS mutation represent a unique subtype in Non-Small-Cell Lung Carcinoma - pmids: - - "25813151" - - text: gLCR has the capacity to detect one mutated allele in an excess of at least one million wild type alleles (0.0001 %) and is therefore an ideal technique for confirming doubtful KRAS mutation screening results obtained by other techniques - pmids: - - "25813150" - - text: K-Ras 4A expression was 2.7-fold higher in endometriosis than non-endometriosis eutopic samples; this overexpression mainly occurs through the proliferative phase of menstrual cycle - pmids: - - "25537670" - - text: K-RAS Mutation is associated with non small cell lung cancer. - pmids: - - "24956168" - - text: These results supported the role of the KRAS rs712 polymorphism as a potential genetic biomarker for the extension of papillary thyroid cancer. - pmids: - - "25201577" - - text: "IRS2 copy number gain, IGF-1R, IR-A, and IGFBP6 RNA expression levels, and KRAS and BRAF mutational status were identified as candidate predictive biomarkers for response to BMS-754807." - pmids: - - "25527633" - - text: KRAS mutations are associated with recurrence in hyperdiploid acute lymphoblastic leukemia. - pmids: - - "25917266" - - text: Mutations in KRAS exon 2 (codon 12/13) are an established predictor of lack of response to the anti-EGFR monoclonal antibodies cetuximab and panitumumab in patients with metastatic Colorectal cancer. - pmids: - - "26220150" - - text: "The frequencies of KRAS and IDHs mutations, which are associated with poor disease-free survival, were significantly higher in hepatitis-negative LCBs" - pmids: - - "25636086" - - text: Data show that RAS-MAPK pathway mutations may function as a biomarker for new therapeutic approaches to refractory disease. - pmids: - - "26121087" - - text: These findings indicate that miR-143/145 rs4705343 and KRAS rs712 may contribute to the etiology of Cervical Squamous Cell Carcinoma in Chinese women. - pmids: - - "26252302" - - text: The KRAS mutation status does not influence the tumor response to the radiotherapy and survival in locally advanced rectal cancer patients who received preoperative chemoradiotherapy and curative surgery. - pmids: - - "26252300" - - text: Data suggest that detection of the c.34G>T KRAS transversion could imply biallelic germline mutY DNA glycosylase MUTYH mutation and lead to genetic counseling. - pmids: - - "26056087" - - text: DNA mutational analysis in lebanese population shows that mutations of EGFR and KRAS are present in 8.5% and 37.7% respectivement in lung adenocarcinoma. - pmids: - - "25120214" - - text: "KRAS showed a direct connection to numerous cancer-related pathways, such as MAPK signaling pathway, suggesting that it may be a central communication hub in breast cancer." - pmids: - - "25137136" - - text: in pancreatic undifferentiated rhabdoid carcinomas the pleomorphic giant cell subtype is characterized by KRAS alterations and the anaplastic monomorphic subtype correlates with the absence of KRAS alterations - pmids: - - "25103069" - - text: The loss of the wild-type KRAS allele may be a common secondary genetic change in KRAS-related JMML and may affect the differentiation behavior of early JMML progenitors. - pmids: - - "24766281" - - text: KRAS mutation is associated with response to chemotherapy in colorectal liver metastases. - pmids: - - "25227306" - - text: Mutations in KRAS exons 3 and 4 predict resistance to anti-EGFR therapies. - pmids: - - "24666267" - - text: "HPV presence was not associated with age, stage or grade of tumours, MSI or mutations in KRAS, TP53 or BRAF genes." - pmids: - - "25647260" - - text: KRAS mutations are associated with response to chemotherapy in cancer. - pmids: - - "24947927" - - text: These findings indicate that KRAS/MAPK1 amplification is critical for the growth of a subset of type II ovarian carcinomas. - pmids: - - "23820584" - - text: KRAS mutation is associated with pancreatic mucinous cysts. - pmids: - - "24938521" - - text: "study surveyed the ability of 12 different oncogenic KRAS mutations to induce pancreatic tumors in an in vivo tumorigenesis assay; results suggest the spectrum of KRAS mutations observed in human pancreatic cancer reflects selection based on variable tumorigenic capacities, including ability to activate MAPK/ERK signaling" - pmids: - - "25065594" - - text: Results suggest that WT1 and c-MYC expression is important for survival in KRAS mutant tumors as opposed to KRAS wild-type non-small cell lung tumors. - pmids: - - "25613309" - - text: "A let-7 microRNA-complementary site (LCS6) polymorphism in the 3' untranslated region of the KRAS gene has been shown to disrupt let-7 binding and upregulate KRAS expression in colon cancer." - pmids: - - "24727325" - - text: "Case Report: coexisting KRAS/NRAS mutations in caecal adenocarcinoma and contiguous tubulovillous adenoma." - pmids: - - "25926041" - - text: "The results from this prospective cohort study further support an influence of sex and lifestyle factors on different pathways of colorectal carcinogenesis, defined by KRAS and BRAF mutation status of the tumours." - pmids: - - "24918610" - - text: In patients receiving selumetinib+docetaxel and harbouring KRAS G12C or G12V mutations there were trends towards greater improvement in overall survival - pmids: - - "26125448" - - text: KRAS codon 12 and 13 mutations are associated with pancreatic adenocarcinoma. - pmids: - - "25605154" - - text: "In patients with mutant KRAS codon 13, the mOS was not significantly different." - pmids: - - "26124380" - - text: Report high rates of KRAS mutations in Chinese colorectal carcinoma patients. - pmids: - - "25663779" - - text: miR-21 promotes malignant behaviors of colon cancer cells by regulating RASA1 expression via RAS pathways. - pmids: - - "25663768" - - text: KRAS-mutation is associated with non-small cell lung cancer. - pmids: - - "24893629" - - text: "The adenocarcinoma showed expression of CK20 and p53, but CK7 in patches. The molecular profile of the adenocarcinoma showed a mutation in KRAS and wild-type BRAF, which might be associated with malignant transformation of intracranial mature teratomas." - pmids: - - "25039399" - - text: "KRAS and BRAF mutations are associated with inferior survival, independent of MSI status, in Japanese patients with curatively resected colorectal carcinoma." - pmids: - - "25632202" - - text: "KRAS is a critical regulator for the metastatic behavior associated with mesenchymal features of breast cancer cells, implicating a novel therapeutic target for basal-type breast cancer." - pmids: - - "25633745" - - text: "NQO1 expression was significantly more frequent in non-small cell lung carcinoma patients with KRAS mutations, suggesting that oxidative stress may be important in the pathogenesis, worse prognosis, and resistance to treatment reported in these patients." - pmids: - - "25222473" - - text: "KRAS oncogene mutations originated from the guanosine nucleotide and over half of all transversions in lung cancer and colorectal cancer were c.34 G>T and c.35 G>T, respectively. c.35 G>A was the most frequent type of transition in both cancers." - pmids: - - "25158139" - - text: KRAS mutations occur in rare gastrointestinal stromal tumors with wild type KIT and PDGFRA. - pmids: - - "25427437" - - text: Report mutations in SNP loci of K-RAS in neoplastic intestinal polyps and colorectal cancer. - pmids: - - "25561800" - - text: High MACC1 expression in combination with mutated KRAS G13 indicates poor survival of colorectal cancer patients - pmids: - - "25742883" - - text: "There is 20.3% KRAS discordance between primary and recurrent colorectal tumors, which is higher rate than is generally known." - pmids: - - "26031776" - - text: "APC, KRAS, and TP53 gene mutations were more common in colorectal cancer than in stomach cancer" - pmids: - - "24861525" - - text: Mutant KRAS-induced expression of ICAM-1 in pancreatic acinar cells causes attraction of macrophages to expedite the formation of precancerous lesions. - pmids: - - "25361845" - - text: Suggest common mutations of the KRAS gene can be used as an early determining marker for early diagnosis of prostate adenocarcinoma. - pmids: - - "26299074" - - text: "In multivariable analyses, in both patients with EGFR-mutant and KRAS-mutant lung adenocarcinomas, advanced stage at the time of diagnosis was found to be independently associated with shorter survival." - pmids: - - "25781862" - - text: KRAS exon 2 mutations are independent predictors of shorter time to recurrence in patients with resected stage III distal colon cancers receiving adjuvant therapy - pmids: - - "25294886" - - text: KRAS mutation analysis may offer additional discriminatory power in separating benign microglandular hyperplasia from endometrial adenocarcinoma with microglandular pattern. - pmids: - - "25997988" - - text: "In unselected advanced non-small-cell lung cancer patients, KRAS mutations could be used as a potential negative predictor of clinical benefit from epidermal growth factor receptor tyrosine kinase inhibitors.[meta-analysis]" - pmids: - - "25577224" - - text: SMYD3-mediated methylation of MAP3K2 increases mutant K-Ras-induced activation of ERK1/2. (Review) - pmids: - - "25382779" - - text: "The effector-binding region of activated K-RAS4B is occluded by interaction with the membrane in one of the NMR-observable, and thus highly populated, conformational states." - pmids: - - "25941399" - - text: KRAS mutation is associated with high-risk stage II colon cancer. - pmids: - - "24889488" - - text: Suppression of TET1-dependent DNA demethylation is critical for KRAS-mediated transformation. - pmids: - - "25466250" - - text: "Our results suggest that smoking is not a major cause of adenocarcinomas in situ. Rather, smoking may play a role in progression of adenocarcinomas in situ to invasive adenocarcinoma with AIS features" - pmids: - - "25970685" - - text: our study identifies coordinate hyperactivation of Notch1 and Ras/MAPK pathways as novel biomarkers for poor breast cancer outcome. - pmids: - - "25253780" - - text: miR-134 may function as a tumor suppressor in cell proliferation by targeting KRAS in renal cell carcinoma cells. - pmids: - - "25811077" - - text: These findings support a model in which targeting MUC1-C inhibits mutant KRAS signaling in Non-small cell lung cancer cells and thereby reverses the epithelial-mesenchymal transition phenotype and decreases self-renewal. - pmids: - - "25245423" - - text: NRAS and KRAS mutations have a role in Down syndrome acute lymphoblastic leukemia that lacks JAK2 mutations - pmids: - - "25105841" - - text: The results suggest a possible association between KRAS mutations and mucinous differentiation in endometrial carcinogenesis - pmids: - - "25972319" - - text: the first BRAF V600/601 and KRAS G12-K16 screening study in primary mediastinal B-cell lymphoma that failed to identify hotspot mutations in this specific subtype - pmids: - - "24397598" - - text: RAS mutations cause vascular tumors including pyogenic granuloma - pmids: - - "25695684" - - text: mutations are associated with decreased cancer-specific survival after lung stereotactic body radiation therapy for early-stage non-small-cell lung cancer - pmids: - - "25450872" - - text: KRAS mutations are known to promote the emergence of aggressive subclones in the evolution of colorectal cancer. - pmids: - - "24906690" - - text: results indicate MTH1 is a novel and critical component of oncogenic KRAS-associated malignancy and its inhibition is likely to yield significant tumor-suppressive outcomes in KRAS-driven tumors. - pmids: - - "25023700" - - text: These data suggest that disabling of the G1 Q checkpoint could represent a novel vulnerability of cancer cells harboring K-Ras and possibly other mutations that disable the Q-dependent checkpoint. - pmids: - - "25023699" - - text: "In tDNA, 50 mutations (36 EGFR, 5 ERBB2, 4 KRAS, 3 BRAF, and 2 PIK3CA) were identified, of which 26 were detected in cfDNA. These data demonstrate the feasibility and potential utility of mutation screening in the detection of a range of tumor biomarkers" - pmids: - - "25013125" - - text: LKB1 CN in combination with KRAS mutation predicted brain metastasis in NSCLC. - pmids: - - "25224251" - - text: "Amplified PAK1, as well as KRAS amplification/mutation, may represent unique opportunities for developing targeted therapeutics for the treatment of gastric cancer." - pmids: - - "24935174" - - text: "LCS6-variant (of the KRAS gene) patients with metastatic colorectal cancer have an excellent response to anti-EGFR mAb monotherapy, without any benefit from the addition of chemotherapy." - pmids: - - "25183481" - - text: KRAS mutation is associated with refractory metastatic colorectal cancer - pmids: - - "25444464" - - text: EGFR and KRAS mutations were present in adenocarcinoma of the lung but not squamous tumors. - pmids: - - "24866168" - - text: A KRAS or NRAS mutation was found in 31% and 62% of benign hyperplastic thyroid nodules and follicular thyroid carcinomas respectively. - pmids: - - "24866065" - - text: KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type colorectal cancers in Chinese patients. - pmids: - - "25367198" - - text: "In this retrospective analysis, triplet chemotherapy with OCX was well tolerated and achieved encouraging efficacy in metastatic colorectal cancer irrespective of RAS/RAF mutation status." - pmids: - - "25427581" - - text: c-Met targeting enhances the effect of irradiation and chemical agents against malignant colon cells harboring a KRAS mutation. - pmids: - - "25427200" - - text: "Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC zeta activation, which is perturbed in neurofibromatosis type 1." - pmids: - - "25070947" - - text: Chinese colorectal cancer patients with either KRAS or PIK3CA mutations are more susceptible to distant metastasis. - pmids: - - "24861917" - - text: Report KRAS mutation status in colorectal neoplasms and neuroendocrine differentiation in primary/metastatic colorectal neoplasms. - pmids: - - "25337237" - - text: KRAS mutations were more prevalent in tubular-type than colloid-type intraductal papillary mucinous neoplasms-associated invasive carcinoma. - pmids: - - "25840541" - - text: The TG/GG rs61764370 KRAS-variant is a potential predictive biomarker for poor platinum response in recurrent/metastatic head and neck squamous cell carcinoma patients - pmids: - - "25081901" - - text: Activating FGFR2-RAS-BRAF mutations play a critical role in the pathogenesis of most cases of ameloblastoma. - pmids: - - "24993163" - - text: "This helps to clarify the confusing body of literature regarding the clinical implications of the KRAS-LCS6 genetic variant on colorectal cancer outcomes, indicating that it should not be used to personalize therapeutic strategies." - pmids: - - "24890702" - - text: "Targeted sequencing on primary, metastatic, and normal tissue from colorectal cancer patients found a high degree of concordance for KRAS, NRAS, and BRAF mutations that were identical in both the primary and metastatic tumors." - pmids: - - "25164765" - - text: "Meta-analysis found that cetuximab objective response rate (ORR) of metastatic colorectal cancer (mCRC) patients with KRAS mutation was 8%, whereas the ORR of mCRC patients with wild-type KRAS was 34%." - pmids: - - "25155261" - - text: KRAS (G-->A) mutation does not affect in vivo anti-cancer efficacy of cetuximab in gastric cancer xenograft model. - pmids: - - "24467518" - - text: "Study sequenced a large clinical series of patients with metastatic colorectal cancer (mCRC) for RAS and PIK3CA mutations. RAS alterations occurred in 48% of mCRC cases, with mutations within KRAS exon 2 in 43%, KRAS exons 3 and 4 in 3%, and NRAS in 2% of cases. PIK3CA mutations occurred in about 10% of mCRC and were significantly associated with concurrent RAS mutation." - pmids: - - "25491172" - - text: "Case Report: KRAS mutated pancreatic adenocarcinoma developing on treatment with combined BRAF and MEK inhibition for metastatic melanoma." - pmids: - - "24821886" - - text: Binding of RAGE to oncogenic KRAS facilitates hypoxia-inducible factor 1 (HIF1)alpha activation and promotes pancreatic tumor growth under hypoxic conditions. - pmids: - - "25341034" - - text: "Clinicopathologic characteristics, survival outcomes, functional impact, and gene expression profiling were similar between patients with KRAS 12/13 and those with NRAS or KRAS 61/146-mutated colorectal cancers" - pmids: - - "25009008" - - text: The variant G-allele of the KRAS-LCS6 polymorphism was significantly associated with better overall survival in patients with oropharyngeal squamous cell carcinoma - pmids: - - "25127693" - - text: These results suggest that the combination of a selective MEK inhibitor and a PI3K/mTOR inhibitor was effective in CRC harboring with KRAS and PIK3CA mutations. - pmids: - - "25326806" - - text: "Report EGFR expression/KRAS mutations and the effect of EGFR expression on stage, prognosis and response to conventional chemotherapy agents." - pmids: - - "25911864" - - text: "Review\\Meta-analysis: KRAS gene mutation is associated with poorer prognosis in colorectal cancer patients." - pmids: - - "25911860" - - text: Study demonstrated the presence of recurrent GNAS and KRAS mutations in gastric foveolar metaplasia and gastric heterotopia lesions in the duodenum. - pmids: - - "25867268" - - text: Oncogenic KRAS upregulated mir31 in lung carcinogenesis. - pmids: - - "25050641" - - text: "KRAS mutations were detected in 13.6% of the colorectal cancer precursor lesions, namely in adenomas and in hyperplastic polyps, but in no serrated adenoma. In CRC cases, 46.8% exhibited KRAS mutation." - pmids: - - "25050586" - - text: Data show that patients with a mutation in KRAS codon 13 experienced worse outcome than those with a mutation in KRAS codon 12 but both mutations are associated with a significantly higher mortality. - pmids: - - "24859378" - - text: "KRAS mutations in serial blood samples revealed that individual patient's circulatin tumor cells exhibited different mutational status of KRAS during treatment." - pmids: - - "25137394" - - text: Studies indicate that K-RAS gene mutations cause GTPase RAS to remain locked in constitutively active signals through the downstream cascades leading to proliferation. - pmids: - - "24958732" - - text: "KRAS mutant allele-specific imbalance is a significant event in colorectal cancer, specifically associated with G13D mutation, and featuring a heterogeneous spatial distribution, that may have a role to predict the response to EGFR inhibitors." - pmids: - - "25609577" - - text: The frequency of KRAS mutations in metastatic colorectal cancer reported by the major Australian test sites is very similar to that reported by other large overseas studies. - pmids: - - "24811330" - - text: Neither all RAS gene mutation status nor PIK3CA mutation status was prognostic for PFS or OS. - pmids: - - "25742472" - - text: KRAS is an independent prognostic marker in resected stage I lung adenocarcinoma. Differential outcomes are associated with codon and amino acid specific KRAS mutations. - pmids: - - "25122432" - - text: The KRAS rs712 polymorphism in let-7 miRNA binding site has no association with nasopharyngeal carcinoma risk. - pmids: - - "23996697" - - text: miR125a loss may have a role in k-ras dependent lung carcinogenesis - pmids: - - "24913817" - - text: The frequency and characteristics of KRAS gene mutation in Turkish non-small cell lung cancer patients - pmids: - - "24973952" - - text: Data suggest that the K-Ras - JNK1/2 axis could be a potential target in cancer stem cells (CSCs) or proliferating cancer stem-like cells (CSLCs)-directed therapies against pancreatic cancer. - pmids: - - "24947996" - - text: A higher number of gene mutations and the DAXX/ATRX and KRAS gene mutations are correlated with a poor prognosis of Chinese patients with pancreatic neuroendocrine tumors. - pmids: - - "25210493" - - text: Findings indicate that KRAS mutations at codon-12 are associated with different metabolomic profiles that might affect the responses to cancer treatments. - pmids: - - "24952473" - - text: Data indicate that high KRAS gene expression corresponded to low survival rates. - pmids: - - "25076326" - - text: Mutated KRAS and mutated BRAF seem to be prognostic factors in patients with Colorectal cancer who undergo lung metastasectomy. - pmids: - - "25688918" - - text: "Review/Meta-analysis: suggest that rs712 polymorphism in Kras gene 3'-luntranslated region may increase susceptibility to cancer risk in Chinese population." - pmids: - - "25778332" - - text: Report KRAS mutation discordance between primary colorectal nsoplasms and their metastases. - pmids: - - "25778307" - - text: Ras regulates KIF2C to control cell migration pathways in transformed human bronchial epithelial cells. - pmids: - - "24240690" - - text: Data suggest that the status of p53 and KRAS may be considered for the targeted therapy against NF-kappaappa B in lung cancer patients. - pmids: - - "25499080" - - text: The KRAS(G12D) mutation identifies a subset of ampullary adenocarcinoma patients with poor prognoses and may be used to identify patients at risk of early recurrence and poorer survival who may benefit from adjuvant therapy. - pmids: - - "25616942" - - text: Findings demonstrated that oncogenic K-Ras activates the signaling cascade p38/PDPK1/PKCdelta/p47(phox)/NOX1 for ROS generation and consequent malignant cellular transformation. - pmids: - - "24632950" - - text: "KRAS CRC regulates MEK-dependent, ADAM17-mediated shedding of soluble decoy MET." - pmids: - - "24931611" - - text: The frequency of KRAS and BRAF mutations was low; KRAS mutations were detected in 1.6% and BRAF mutations in 4.7% of the biopsies for anal carcinoma. - pmids: - - "25244542" - - text: "The presented data subclassified colorectal cancers (CRCs) based on their activated signaling pathways and identify a role for c-MET and IGF1R-driven PI3K signaling in CRCs, which is superior to KRAS mutational tests alone." - pmids: - - "25090459" - - text: "KRAS mutation is a poor prognostic factor in patients with metastatic colorectal cancer. In KRAS mutation metastatic colorectal cancer, mutation at codon 12 or at codon 13 had no relationship with prognosis." - pmids: - - "25713893" - - text: Lung metastasis was more likely to develop during the disease course in patients whose tumour had a KRAS mutation than in those whose tumour did not have a KRAS mutation. - pmids: - - "25535726" - - text: Activating KRAS mutations were associated with lung cancer. - pmids: - - "24594201" - - text: "results suggest that KRAS mutation may be a useful prognostic marker for patients with metastatic colorectal cancer receiving mFOLFOX6 +/- bevacizumab therapy, especially for patients treated with mFOLFOX6 + bevacizumab" - pmids: - - "25699356" - - text: Only one (2.8%) had a K-ras mutation. - pmids: - - "25041017" - - text: "Suggest that activating mutations of EGFR, HRAS, and KRAS contribute to the pathogenesis of human seborrheic keratosis." - pmids: - - "23739246" - - text: "KRAS, BRAF, and PIK3CA mutations were evaluated in 204 colorectal carcinoma samples; the frequency of KRAS, BRAF, and PIK3CA mutations was 23.5, 9.8, and 5.9 %, respectively." - pmids: - - "25073438" - - text: KRas G12V has higher aggressiveness than KRas G13D in a colorectal cancer model - pmids: - - "25359494" - - text: Clinical relevance of KRAS mutations in predicting the efficacy of cetuximab-containing therapy for metastatic colorectal patients in the Japanese population. - pmids: - - "24013837" - - text: Mutations in KRAS were associated with rectal cancer. - pmids: - - "24700299" - - text: "This study is the first to compare different SMIs in combination with IR for the treatment of K-RAS mutant rectal cancer, and our findings suggest that Chk1/2 inhibitors should be evaluated in new clinical trials for LARC." - pmids: - - "24349411" - - text: "miR-143 and miR-145 and the predicted target proteins API5, ERK5, K-RAS, and IRS-1 display regional differences in expression in the colon" - pmids: - - "25477374" - - text: "KRAS mutations are more common in heavy smokers, and lung adenocarcinomas with KRAS mutation are more likely to invade the visceral pleura." - pmids: - - "24694341" - - text: an MEK1/2 inhibitor potentiated the anti-tumor effects of cisplatin in KRAS-dependent lung cancer cells and an animal model through inhibition of BIM degradation. - pmids: - - "25541062" - - text: "KRAS mutational status could have an impact to the decision to give chemotherapy or EGFR-TKIs as second-line treatment to patients with non-small cell lung cancer, mainly in patients harboring WT-EGFR." - pmids: - - "23538866" - - text: Current approaches for predicting a lack of response to anti-EGFR therapy in KRAS wild-type patients. - pmids: - - "25032217" - - text: oncogenic K-ras and downregulated p16/INK4A in human pancreatic tumorigenesis - pmids: - - "25029561" - - text: activation of the RAS-mitogen-activated protein kinase pathway by BRAF and RAS mutations contributes significantly to the tumorigenesis of sporadic SCAP - pmids: - - "25532942" - - text: Mutated K-ras activates CDK8 to stimulate the epithelial-to-mesenchymal transition in pancreatic cancer in part via the Wnt/beta-catenin signaling pathway. - pmids: - - "25305448" - - text: AKR1B10 is a unique enzyme involved in pancreatic carcinogenesis via modulation of the Kras-E-cadherin pathway. - pmids: - - "25304374" - - text: EGFR or KRAS mutations were detected with xTAG liquidchip technology - pmids: - - "24994038" - - text: KRAS mutations are associated with pseudomyxoma peritonei. - pmids: - - "25274248" - - text: "systemic delivery of MNPsiCDK4 significantly inhibited tumor growth in an A549 NSCLC xenograft murine model, with depressed expression of CDK4 and mutational KRAS status." - pmids: - - "24496383" - - text: Non-invasive QTA can differentiate the presence of K-ras mutation from pan-wildtype NSCLC and is associated with patient survival. - pmids: - - "24987838" - - text: "The cumulative incidence of bone, brain, and lung metastases was significantly higher for patients with KRAS MUT compared with those with KRAS WT." - pmids: - - "25155157" - - text: KRAS mutation in adenocarcinoma of the gastrointestinal type arising from a mature cystic teratoma of the ovary. - pmids: - - "25297496" - - text: KRAS mutations are associated with colorectal cancer. - pmids: - - "24798549" - - text: we identify altered regulation of folate metabolism in KRAS-mutant NSCLC cells that may account for higher antifolate activity in this subtype of NSCLC. - pmids: - - "24688052" - - text: Thyroid nodules with KRAS mutations are different from nodules with NRAS and HRAS mutations with regard to cytopathologic and histopathologic outcome characteristics. - pmids: - - "25132659" - - text: KRAS codons 12 and 13 mutation status was the first validated molecular biomarker for anti-EGFR antibodies - pmids: - - "24956256" - - text: "This study investigated the impact of KRAS, NRAS, BRAF, PI3KCA and TP53 status on outcome of elderly metastatic colorectal cancer patients" - pmids: - - "23821376" - - text: No patients exhibiting phospho-S6rp-positive staining and an activating KRAS mutation demonstrated a prolonged response of everolimus in endometrial cancer. - pmids: - - "24651628" - - text: "Embelin suppresses growth of human pancreatic cancer xenografts, and pancreatic cancer cells isolated from KrasG12D mice by inhibiting Akt and Sonic hedgehog pathways." - pmids: - - "24694877" - - text: "After activating hK-rasG12D gene expression, hK-rasG12D transgenic goat fetal fibroblast cells were transformed into tumorgenesis cells." - pmids: - - "24594684" - - text: Our findings illuminate the mechanistic details of KRAS-mediated drug resistance and provide a preclinical rationale to improve the management of lung tumors harboring KRAS mutations with NRF2 pathway inhibitors. - pmids: - - "25339352" - - text: Mutated KRAS caused higher (18)F-FDG accumulation possibly by upregulation of GLUT1 - pmids: - - "25453050" - - text: Both the CRP single nucleotide polymorphism rs7553007 and KRAS/BRAF mutations were independent prognostic factors for colorectal cancer patients with synchronous liver metastasis. - pmids: - - "23755178" - - text: "None of the 66 tumors harbored mutations in KRAS exon 2, thus excluding KRAS mutations as a common event in squamous cell carcioma of the anogenital and head and neck region and as a cause of p16(INK4a) expression in these tumors." - pmids: - - "25257576" - - text: Results identify miR-134 as a novel RTK-regulated tumor-suppressive hub that mediates RTK and RTK-inhibitor effects on GBM malignancy by controlling KRAS and STAT5B. - pmids: - - "24440911" - - text: Inhibition of proliferation by K-RAS depended on antiproliferative RAS effector RASSF1A and blockade of the RAS-activated proproliferative RAF/MAPK pathway by tumor suppressor menin - pmids: - - "25133424" - - text: "expression of K-Ras and RalB and possibly RalA proteins is critical for maintaining low levels of p53, and down-regulation of these GTPases reactivates p53 by significantly enhancing its stability, contributing to suppression of malignant transformation" - pmids: - - "25210032" - - text: "We show that loss of Scrib and activated oncogenic KRas cooperate in vivo, resulting in more aggressive lung tumors" - pmids: - - "24276238" - - text: The KRAS mutation rate is significantly higher in women than in men and tumors on the right colon have a higher frequency of KRAS mutations than those on the left. - pmids: - - "24642870" - - text: study found incidence of KRAS mutations in metastatic colorectal cancer (mCRC) was similar to that of non-mCRC as previously reported; KRAS codon 13 mutations might be associated with younger female patients with mCRC - pmids: - - "24642668" - - text: The KRAS-variant may be a genetic marker of risk for type 2 endometrial cancers. - pmids: - - "24732316" - - text: "This study indicated that mutations of KRAS, PIK3CA and NRAS were rare in advanced gastric cancer." - pmids: - - "24774510" - - text: Tumors with KRAS mutations in codons 61 and 146 account for an appreciable proportion of colorectal cancers. - pmids: - - "24885062" - - text: Characteristics and prognosis of colorectal cancer with NRAS mutations are different from those with KRAS or BRAF mutations. - pmids: - - "24806883" - - text: There were no clearly pathogenic mutations in the KRAS gene in a cohort with thymic tumors. - pmids: - - "24870739" - - text: Results demonstrated that the SPACE-HRM system we set up is a high sensitive assay that can be used for EGFR and KRAS allele enrichment and reliable detection - pmids: - - "24883309" - - text: KRAS mutations in either codon 12 or 13 are associated with inferior survival in patients with resected stage III colon cancer - pmids: - - "24687927" - - text: KRAS gene mutation is not associated with chronic myeloid leukemia. - pmids: - - "24377583" - - text: "From a practical perspective, small biopsies may not adequately represent a tumor's full mutational profile, particularly for later arising but prognostically important mutations such as those in the KRAS and BRAF genes" - pmids: - - "24742923" - - text: High KRAS mRNA expression is associated with non-small-cell lung cancer growth and progression. - pmids: - - "24389431" - - text: KRAS mutational subtype and copy number is associated with in vitro response of pancreatic cancer cell lines to MEK inhibition. - pmids: - - "25167228" - - text: Report no KRAS mutations in thyroid carcinoma showing thymus-like elements. - pmids: - - "24934485" - - text: The inflammatory cytokine TNFalpha cooperates with Ras in elevating metastasis and turns WT-Ras to a tumor-promoting entity in MCF-7 cells. - pmids: - - "24598028" - - text: "KRAS gene was wild type in 18 cases, whereas one mucinous carcinoma harboured a point mutation at codon 12" - pmids: - - "24454858" - - text: findings identified Yap as a critical oncogenic KRAS effector and a promising therapeutic target for PDAC and possibly other types of KRAS-mutant cancers - pmids: - - "24803537" - - text: PS detection of low-frequency mutations may improve the KRAS predictive value for EGFR therapy selection. - pmids: - - "24799053" - - text: Oxaliplatin-based regimens are more beneficial in KRAS mutant than in KRAS wild-type metastatic colorectal cancer patients. - pmids: - - "24505265" - - text: This study investigated the proteome modulated by oncogenic KRAS in immortalized airway epithelial cells. - pmids: - - "24503901" - - text: No correlation was found between the frequency of cancer recurrence and KRAS mutations in surgical margins - pmids: - - "24629489" - - text: The presence of KRAS mutation in both mucinous adenocarcinoma and complex mucinous changes indicates that KRAS mutational activation is implicated in the pathogenesis of a significant subset of endometrial mucinous carcinoma. - pmids: - - "24186144" - - text: "Although the sensitive pyrosequencing method was used, no EGFR, KRAS or BRAF mutations could be found" - pmids: - - "24560515" - - text: "Data shows that KRAS genotype, specifically the c.35 G>A KRAS mutation, may indicate poor prognosis in metastatic colorectal cancer patients." - pmids: - - "24715238" - - text: "frequency of K-RAS mutations in the Puerto Rican population studied was 39 percent and mutant K-RAS was associated with advanced colorectal cancer stage, mucinous histotype and ulcerated tumors" - pmids: - - "23999847" - - text: "we review the latest published literature specific to KRAS mutation testing techniques--{REVIEW}" - pmids: - - "24534449" - - text: Implementation of KRAS testing did not influence CRC OS. Our data support the use of KRAS testing to guide administration of EGFR inhibitors for treatment of metastatic CRC without diminished OS. - pmids: - - "24788807" - - text: KRAS and BRAF genes were wild-type in all squamous cell anal carcinoma cases. - pmids: - - "24642661" - - text: Reexpression of Let-7g microRNA inhibits the proliferation and migration via K-Ras/HMGA2/snail axis in hepatocellular carcinoma. - pmids: - - "24724096" - - text: "In a Brazilian cohort of patients with metastatic colorectal cancer, tumors had overall percentage of wild-type and mutated KRAS was 62.8% and 31.9%, respectively, with a greater percentage in women." - pmids: - - "24720724" - - text: Report high concordance rate between next generation sequencing and standard testing for KRAS. - pmids: - - "25004944" - - text: "Using an inducible RAS expression system, we show that overexpression of RAS disrupts the circadian clock and leads to an increase of the circadian period while RAS inhibition causes a shortening of period length." - pmids: - - "24875049" - - text: correlation between KRAS or BRAF mutations and prognosis was not observed - pmids: - - "24372748" - - text: "The SMURF2:UBCH5 complex is critical in maintaining KRAS protein stability." - pmids: - - "24709419" - - text: "Findings suggest that miR-200c is a potent inhibitor of tumor progression and therapy resistance, by regulating a multitude of oncogenic pathways including the RAS pathway." - pmids: - - "24368337" - - text: KRAS gene mutations were found in 4 (5%) of 28 patients with squamous cell anal cancer - pmids: - - "24122611" - - text: Results support the role of KRAS mutational status in pancreatic cancer biology and suggest may serve as prognostic marker. - pmids: - - "24681874" - - text: "In KRAS-dependent pancreatic ductal adenocarcinoma cell lines, HNRNPA2B1 interacts with and regulates the activity of KRAS G12V and G12D." - pmids: - - "24998203" - - text: KRAS mutations are at high risk for early pulmonary recurrence in colorectal carcinoma. - pmids: - - "24281417" - - text: significant KRAS mutation discordance between the adenoma and carcinoma component of the colorectal tumor lesion. - pmids: - - "24998492" - - text: "A mutually exclusive pattern of FGFR2, HER2, and KRAS gene amplification and survival trends in gastric cancer patients." - pmids: - - "25086186" - - text: "42% of colorectal cancer tissue samples had KRAS mutations. Their frequency and distribution are similar to those reported in the literature, except for G12C mutation" - pmids: - - "24522420" - - text: Here we report a sensitive and inexpensive assay for KRAS mutations based on a PNA-mediated PCR clamping. - pmids: - - "24242294" - - text: "in lung adenocarcinomas, KRAS mutations are prevalent in male smokers; EGFR mutations are associated with female sex, nonsmoking and lepidic and micropapillary growth; TTF1 has a role in survival; BRAF mutations have roles in survival" - pmids: - - "23988776" - - text: This study shows that 21% of Nigerian colorectal patients carry a KRAS mutation; half the rate in Caucasians. - pmids: - - "23310942" - - text: "KRAS (41%) and PIK3CA (8%) mutations in Colorectal cancer in patient-derived xenograft models closely paralleled patient tumors (35 to 51% KRAS, 12 to 21% PIK3CA)." - pmids: - - "25197873" - - text: "rs712, rs9266, and one novel variant may have a functional role in regulation of KRAS by disrupting complementary sites of various miRNAs, including let-7 and miR-181." - pmids: - - "24552817" - - text: Increased KRAS mutation is associated with colorectal cancer progression and poor response to therapy. - pmids: - - "24659028" - - text: Rasfonin is a robust inhibitor of pancreatic cancers with the K-ras mutation. - pmids: - - "24853419" - - text: A KRAS somatic mutation was identified in 25% (7/28) of the TP53 mutated tumors - pmids: - - "24443225" - - text: "In 14 % of ovarian clear cell carcinomas, a KRAS mutation occurs in codon 2 exon 2." - pmids: - - "24889043" - - text: "Quality control and assurance of KRAS genotyping is critical, and standardization of the methodology is warranted" - pmids: - - "23299277" - - text: Down-regulated expression of K-Ras mRNA. - pmids: - - "23464485" - - text: mutations result in lower disease control rate after the first-line platinum-based chemotherapy - pmids: - - "24439569" - - text: "kras and p53 undergo separate pathways in colorectal tumorogenesis. Interestingly, mutations in the K-ras gene might be considered a valuable prognostic factor correlated to poor outcome" - pmids: - - "24763823" - - text: RAC1b overexpression constitutes a marker of poor prognosis in KRAS/BRAF WT mCRC patients treated with first-line FOLFOX/XELOX therapy. - pmids: - - "24833563" - - text: mutation patterns are quantitatively and qualitatively distinct between non-small-cell lung cancer and colorectal cancer - pmids: - - "24331409" - - text: up-regulation of KIF2C and KIF2A by ERK1/2 caused aberrant lysosomal positioning and mTORC1 activity in a mutant K-Ras-dependent cancer and cancer model. - pmids: - - "25002494" - - text: "Simultaneous diagnostic platform of genotyping EGFR, KRAS, and ALK in 510 Korean patients with non-small-cell lung cancer highlights significantly higher ALK rearrangement rate in advanced stage." - pmids: - - "24888607" - - text: Variable KRAS mutations may have different effects on colon cancers; further studies are needed to verify these results - pmids: - - "24964758" - - text: An antisense oligonucleotide specific to a K-ras point mutation promotes apoptosis in PC-2 cells. - pmids: - - "23828694" - - text: GNAS and KRAS mutations are common in intraductal papillary neoplasms of the bile duct - pmids: - - "24312577" - - text: Studies suggest the potential predictive role of mutant KRAS in the context of chemosensitivity of non-small-cell lung cancer (NSCLC) which may depend on the individual drug types. - pmids: - - "24463346" - - text: Enhanced KRAS activity increases bovine herpesvirus 1 oncolytic capacity in cancer cells. - pmids: - - "24696490" - - text: presence of a K-ras gene mutation was a poor prognostic factor - pmids: - - "23609009" - - text: EGFR and KRAS mutations are frequent in adenocarcinomas and are not prognostic factors for survival. - pmids: - - "23357969" - - text: "our findings suggest that loss of CDKN2A and, to a lesser extent, KRAS and PIK3CA somatic mutations have a role in the progression of a benign to an atypical proliferative Brenner tumor" - pmids: - - "23887305" - - text: "KRAS G12C mutations were associated with primary lung adenocarcinoma, whereas KRAS G12R mutations favored pancreatic adenocarcinoma" - pmids: - - "23887294" - - text: "Primary and recurrent anal cancer expresses wild type KRAS, unaffected by treatment, supporting trials targeting EGFR in poor risk/recurrent anal cancer." - pmids: - - "24021343" - - text: Oncogenic K-Ras and loss of Smad4 mediate invasion by activating an EGFR/NF-kappaB Axis that induces expression of MMP9 and uPA in human pancreas progenitor cells. - pmids: - - "24340014" - - text: "Using a colon cancer cell line, study found 147 genes that promoted survival upon KRAS suppression. In particular, the transcriptional coactivator YAP1 rescued cell viability in KRAS-dependent cells upon suppression of KRAS and was required for KRAS-induced cell transformation." - pmids: - - "24954536" - - text: 7 KRAS mutations were detected in adult Korean patients with acute myeloid leukemia; most common mutation was G-to-A transition in the second base of KRAS codon 13; study could not find any statistical differences of clinical features according to KRAS mutaion status - pmids: - - "24105326" - - text: Knockdown of ACK1 abrogated bosutinib-induced inhibition of cell migration and invasion specifically in KRAS mutant cells. This finding was further confirmed in an in vivo zebrafish metastatic model - pmids: - - "24461128" - - text: KRAS mutations are more common in African Americans than among Caucasians and are associated with advanced stage in colorectal cancer patients. - pmids: - - "24440976" - - text: GNAS mutant colon tumors commonly have synchronous mutations in KRAS. - pmids: - - "24498230" - - text: "We sought to investigate whether mucinous features, such as signet-ring cell feature and extracellular mucin, are associated with EGFR and KRAS mutations in patients with lung adenocarcinoma" - pmids: - - "25029118" - - text: The suppression of K-ras expression by siRNA interfered with this synergism and inhibited both EGFR and Akt activity in A549 cells. - pmids: - - "24399305" - - text: Smad4 represents a barrier in KRAS-mediated malignant transformation of the near normal immortalized human pancreatic duct epithelial (HPDE) cell - pmids: - - "24386371" - - text: miR-27a suppresses tumorigenesis of esophageal squamous cell carcinoma by targeting KRAS. - pmids: - - "24154848" - - text: K-ras gene mutation is not associated with response to chemotherapy in colorectal cancer patients. - pmids: - - "24205021" - - text: KRAS mutation is associated with esophageal squamous cell carcinoma. - pmids: - - "23274581" - - text: "Summing up the results about the KRAS and the BRAF mutation carriers from our study, the portion of potentially non responsive colorectal cancer patients for the anti-EGFR treatment is 28.26%." - pmids: - - "23849768" - - text: KRAS mutation status could be a novel biomarker for predicting disease recurrence in Japanese patients with stage II colorectal cancer . - pmids: - - "23188063" - - text: KRAS mutations are associated with non-small-cell lung cancer. - pmids: - - "24139827" - - text: "Prognosis after progression to firstline FIr-B/FOx may be significantly favourable in MCRC pts re-challenged with intensive regimens, and unfavourable in c.35 G>A KRAS mutant patients." - pmids: - - "24247407" - - text: There was no difference in overall survival after starting EGFR-TKI in patients with KRAS mutation and EGFR/ KRAS WT. - pmids: - - "23922984" - - text: "Androgen-induced AR activating signal upregulates let-7a that targets CMYC and KRAS and contributes to ER-, PR-, AR+ breast cancer pathogenesis." - pmids: - - "24172884" - - text: Blockade of autophagy results in a mutant KRAS-dependent senescence-to-apoptosis switch in cancer cells treated with IR and erlotinib. - pmids: - - "24648348" - - text: "overall genomic and transcriptional landscape of lung adenocarcinoma is affected, but only to a minor extent, by EGFR and KRAS mutation status" - pmids: - - "24205279" - - text: Results suggest that the cancer-associated rs61764370 variant exerts a biological effect not through transcriptional modulation of KRAS but rather by tuning the expression of the microRNA let-7. - pmids: - - "24282149" - - text: "Integrin alpha(v)beta expression and the resulting KRAS-RalB-NF-kappaB pathway were both necessary and sufficient for tumour initiation, anchorage independence, self-renewal and erlotinib resistance." - pmids: - - "24747441" - - text: Two (15%) of 13 patients with MTS were found to harbor a KRAS mutation and loss of MLH1 expression - pmids: - - "24767862" - - text: The combination of lenalidomide and cetuximab appeared to be well tolerated but did not have clinically meaningful activity in KRAS-mutant metastatic colorectal cancer patients. - pmids: - - "24244261" - - text: "While KRAS mutation status per se is neither prognostic nor predictive in stage III-IV lung adenocarcinoma, subtype-specific analysis may indeed identify clinically relevant subgroups of patients that may ultimately influence treatment decisions." - pmids: - - "24768329" - - text: "Case Report: mucinous bronchioloalveolar carcinoma with K-ras mutation arising in type 1 congenital cystic adenomatoid malformation." - pmids: - - "24228126" - - text: RAD21 expression in CRC is associated with aggressive disease especially in KRAS mutant tumours and resistance to chemoradiotherapy. - pmids: - - "24548858" - - text: "K-ras mutations are common among the Saudi colorectal cancer population, especially pG12V and pG12D in codon 12, and are more frequent in sigmoid and rectal adenocarcinomas and stage IVB tumors." - pmids: - - "24675495" - - text: "Data indicate that differentially expressed IL-17, IL-22, and IL-23 levels are associated with K-ras in a stage-specific fashion along colorectal cancer progression and an association was established between mutant K-ras and GM-CSF and IFN-gamma." - pmids: - - "24040001" - - text: Our results suggest that the presence of a KRAS mutation in colorectal carcinoma is associated with alterations in the nuclear morphometric properties of contrast and ellipticity. - pmids: - - "24902368" - - text: "In cytogenetically normal acute myeloid leukemia, activating K-RAS mutations in codons 12, 13, or 61 were detected in 3 of 204 patients. Activating K-RAS mutations may cooperate with mutated NPM1 to induce leukemia." - pmids: - - "24737308" - - text: KRAS mutation status does not seem to represent a strong prognostic variable. - pmids: - - "24073892" - - text: Identification of a novel association of KRAS mutations with solid growth pattern and tumor-infiltrating leukocytes in non-mucinous lung adenocarcinomas. - pmids: - - "23619604" - - text: "mutations in KRAS codon 61, KRAS codon 146, BRAF, NRAS, or PIK3CA detected in Asian patients were not predictive of clinical benefits from cetuximab treatment." - pmids: - - "24006859" - - text: A meta-analysis indicates that K-ras gene mutation analysis is useful for the differential diagnosis of pancreatic adenocarcinomas. - pmids: - - "23660563" - - text: Report the role of KRAS mutations in the detection and classification of pancreatic mucinous neoplasms by endoscopic ultrasound fine-needle aspiration. - pmids: - - "23743931" - - text: KRAS mutation did not have prognostic value in patients with metachronous or synchronous metastatic CRC. - pmids: - - "24330663" - - text: "In prostate cancer, EGFR mutations occur more commonly than KRAS mutations and EGFR and KRAS mutations may be mutually exclusive" - pmids: - - "24595526" - - text: study failed to promote (18)F-FDG PET/CT uptake as a surrogate examination for KRAS mutation testing - pmids: - - "24778079" - - text: "When genotypes of BRAF/KRAS mutated s-BOTs and corresponding implants were compared, no patient presented with a fully matching mutation profile of s-BOT and all corresponding implants." - pmids: - - "24139521" - - text: "Oncogenic KRAS plays a central role in controlling multiple metabolic changes such as stimulation of glucose uptake, differential channeling of glucose intermediates, reprogrammed glutamine metabolism, increased autophagy, and macropinocytosis. (Review)" - pmids: - - "24388967" - - text: Findings support the development of ISG15 conjugation inhibitors for treating breast and also other cancers expressing oncogenic Ki-Ras. - pmids: - - "23318454" - - text: Mutational activation of KRAS does not seem to play any significant role in the development and progression of gastrointestinal stromal tumors. - pmids: - - "23702733" - - text: As second- or later-line treatment of patients with KRAS-mutated metastatic colorectal cancer. - pmids: - - "24407191" - - text: Race was not statistically significantly associated with KRAS mutational status in patients with non small cell lung cancer. - pmids: - - "23806795" - - text: we found that EVI1 upregulated KRAS expression through suppression of miR-96 in pancreatic cancer cells - pmids: - - "23752186" - - text: Gallbladder cancer has a high frequency of K-ras codon 12 mutation with poorer outcomes in resected stage II and III disease. - pmids: - - "23838952" - - text: KRAS mutations are associated with lung cancer. - pmids: - - "23817662" - - text: no significant associations have been detected between KRAS mutations and clinicopathologic variables and MSI in Tunisian patients as previously reported. - pmids: - - "24078161" - - text: Driver mutations among never smoking female lung cancer tissues in China identify unique EGFR and KRAS mutation pattern associated with household coal burning. - pmids: - - "24055406" - - text: Studies suggest that understanding the underlying biology of tumor-stroma interactions and tumor heterogeneity are critical to guiding rational approaches to designing treatments tailored to targeting KRAS in the stroma-rich microenvironment. - pmids: - - "24152947" - - text: the joint presence of CDKN2A methylation and KRAS mutations independently predicted recurrence of cancer and was associated with poor overall and cancer-specific survival. - pmids: - - "24259266" - - text: "In this cetuximab-treated colorectal cancer population, EGFR gain was associated with better outcome and PTEN protein expression with longer TTP in KRAS WT, KRAS WT/AREG high and KRAS/BRAF WT subpopulations" - pmids: - - "24595598" - - text: RAS mutations beyond KRAS exon 2 and 3 were identified in 17% of locally advanced rectal cancer patients. - pmids: - - "24582914" - - text: "Our findings suggest that IL-8 expression is associated with certain clinicopathological features including age and is a potent prognostic marker in lung adenocarcinoma, especially in oncogenic KRAS-driven adenocarcinoma." - pmids: - - "24577055" - - text: expression of oncogenic KRAS shifts the balance of DNA repair toward the highly error-prone alternative nonhomologous end-joining pathway. - pmids: - - "24505083" - - text: KRAS gene insertions represent a diagnostic and clinical challenge due to the difficult and unusual pyrosequencing findings and the lack of information regarding its clinical impact. - pmids: - - "24594115" - - text: This review will focus on the current (EGFR and KRAS mutations)and future biomarkers in the advanced NSCLC field and also address potential related targeted therapies for these patients. - pmids: - - "24192124" - - text: "Review/Meta-analysis: K-ras mutation analysis alone is not recommended for the diagnosis of pancreatic carcinoma." - pmids: - - "24103274" - - text: The PI3K/AKT pathway promotes gefitinib resistance in mutant KRAS lung adenocarcinoma by a deacetylase-dependent mechanism. - pmids: - - "24374738" - - text: "Our findings suggest that in a subset of ductal adenocarcinomas, KRAS mutant allele-specific imbalance correlates with the progression to undifferentiated carcinoma of the pancreas." - pmids: - - "23599154" - - text: "Tumor KRAS has minor clinical impact, whereas plasma KRAS status seems to hold important predictive and prognostic information." - pmids: - - "24263065" - - text: There was a negative correlation between KRAS codon 12 mutations and the level of HLA class I antigens in primary and metastatic tumors. - pmids: - - "23975858" - - text: Identification of double-stranded genomic DNA spanning all chromosomes with mutated KRAS and p53 DNA in the serum exosomes of patients with pancreatic cancer. - pmids: - - "24398677" - - text: Degradation of activated K-Ras orthologue via K-Ras-specific lysine residues is required for cytokinesis. - pmids: - - "24338482" - - text: Small G proteins Rac1 and Ras regulate serine/threonine protein phosphatase 5 (PP5).extracellular signal-regulated kinase (ERK) complexes involved in the feedback regulation of Raf1. - pmids: - - "24371145" - - text: "A protumorigenic role for CLPTM1L that is critical for Ras-driven lung cancers, with potential implications for therapy and chemosensitization." - pmids: - - "24366883" - - text: "KRAS requires S181 phosphorylation to manifest its oncogenic properties, implying that its inhibition represents a relevant target to attack KRAS-driven tumors." - pmids: - - "24371225" - - text: "Mutations of the KRAS gene (exon 2) were detected in 36.3% of cases of CRC, more often in women (41.1%) than in men (31.2%). 8 different types of KRAS mutations were identified, the most frequent replacement of G12D (33.7%), G12V (32.7%) and G13D (12.5%)" - pmids: - - "24624786" - - text: "evaluated mutations in four driver genes, epidermal growth factor receptor (EGFR), Kirsten ras oncogene (KRAS), c-MET, and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK), in Chinese lung adenocarcinoma patients" - pmids: - - "23919423" - - text: "In proximal colon lesions, the incidence of KRAS mutations is significantly higher in the granular-type than in the non-granular-type of colorectal laterally spreading tumor." - pmids: - - "23112547" - - text: KRAS mutations are associated with response to chemoradiation in rectal cancer. - pmids: - - "23864308" - - text: "The frequencies of somatic EGFR, KRAS, and ALK gene abnormalities reflect the diverse ethnicity and smoking patterns of non-small-cell lung cancers patients in the United States." - pmids: - - "23932486" - - text: "HB-EGF overexpression and Kras(G12D) together, but neither alone, increase cancer cell proliferation." - pmids: - - "23376846" - - text: "There was significant association (p < 0.05) between KRAS mutations, age and the tumor differentiation." - pmids: - - "23729268" - - text: KRAS mutations in ovarian serous borderline tumour are associated with recurrent low-grade serous carcinoma. - pmids: - - "24549645" - - text: "abnormal [beta]-catenin expression showed an inverse relationship with the presence of KRAS mutations in ovarian endometrioid adenocarcinoma" - pmids: - - "24018808" - - text: Report analysis of KRAS mutations in non-small cell lung carcinomas. - pmids: - - "24040454" - - text: "The frequencies of EGFR, KRAS, BRAF, and HER-2 mutations in BM-NSCLC were 2.6, 38.5, 0, and 0% respectively. The incidence of KRAS mutation was significantly higher in female and younger patients." - pmids: - - "23930206" - - text: Sag is a Kras-cooperating oncogene that promotes lung tumorigenesis - pmids: - - "24430184" - - text: "This study confirmed that KRAS testing is definitely part of the management of most of metastatic colorectal cancer patients, despite discrepancies observed in the rate of prescription and the time of results." - pmids: - - "23473612" - - text: Wild-type H- and N-Ras promote mutant K-Ras-driven tumorigenesis by modulating the DNA damage response. - pmids: - - "24525237" - - text: No associations were found with CRC harboring G>T mutations in KRAS/APC. - pmids: - - "23983135" - - text: KRAS mutation impairs the therapeutic effect exerted by cetuximab-mediated antibody-dependent cellular cytotoxicity - pmids: - - "24136682" - - text: "Study reveals functional and mechanistic links between miRNA-30b and oncogene KRAS, PIK3CD and BCL2 in the pathogenesis of colorectal carcinoma." - pmids: - - "24293274" - - text: KRAS mutation status is predictive of cetuximab response in the Japanese metastatic colorectal cancer patients. - pmids: - - "22638623" - - text: ADM is a new target of oncogenic KRAS in the setting of hypoxia - pmids: - - "24519534" - - text: "K-Ras mutation activates CSCs, contributing to colorectal tumorigenesis and metastasis in CRC cells harboring APC mutations. Initial activation of beta-catenin by APC loss and further enhancement through K-Ras mutation induces CD44, CD133, CD166 expression." - pmids: - - "24491301" - - text: A let-7 KRAS rs712 polymorphism increases colorectal cancer risk. - pmids: - - "23975373" - - text: KRAS mutation did not reduce sensitivity to bortezomib or dexamethasone in myeloma patients. - pmids: - - "24335104" - - text: KRAS mutant subpopulations are present in a large number of thyroid tumors. - pmids: - - "22930660" - - text: KRAS mutations are associated with colorectal neoplasms. - pmids: - - "23978462" - - text: "Data indicate that sp-Erf2/zDHHC9 palmitoylates Ras proteins in a highly selective manner in the trans-Golgi compartment to facilitate PM targeting via the trans-Golgi network, a role that is most certainly critical for Ras-driven tumorigenesis." - pmids: - - "24248599" - - text: KRAS mutations are associated with colonic neoplasms. - pmids: - - "23755925" - - text: "a complex regulatory system involving TP53, KRAS, and let-7a" - pmids: - - "23936455" - - text: Results show that HDAC6 and SIRT2 regulate the acetylation state of K-RAS in cancer cells - pmids: - - "23723075" - - text: This article presents the case of a 64-year-old patient with a glandular papilloma of the right main bronchus including the immunohistochemical and molecular work-up as well as a review of the current literature. - pmids: - - "23263441" - - text: KRAS mutations are associated with colorectal neoplasms. - pmids: - - "23773459" - - text: Functional ALK rearrangements were mutually exclusive with EGFR and KRAS mutations in a large Western patient population. This lack of overlap was also observed in ALK-positive cancers with acquired resistance to crizotinib - pmids: - - "23729361" - - text: "Despite the overlapping clinical features, Rasopathy syndromes exhibit unique fenotypical features and the precise molecular diagnostics may lead to confirmation of each syndrome." - pmids: - - "24156711" - - text: we demonstrate that oncogenic K-Ras is not constitutively active but can be readily activated by upstream stimulants to lead to prolonged strong Ras activity - pmids: - - "23334325" - - text: "Studies indicate that inhibition of targets outside the main KRAS signaling pathway, specifically the cell cycle related kinase PLK1, has been shown have an effect in cells that harbor mutant KRAS." - pmids: - - "23566315" - - text: results indicate that serrated lesions of the appendix often harbor KRAS mutations rather than BRAF mutations and suggest that the serrated pathway in the appendix is likely different than in the colon and rectum - pmids: - - "24439221" - - text: "This case to be the first description of a solitary serrated polyp with KRAS mutation, similar to the lesions occurring as polyposis in longstanding IBD" - pmids: - - "23945926" - - text: "results suggest that the frequency of wild-type KRAS in cancer associated with familial adenomatous polyposis was approximately 40%, although it was lower than that in sporadic cancer" - pmids: - - "24394008" - - text: KRAS mutation is not associated with response to chemotherapy in non-small-cell lung cancer. - pmids: - - "23787801" - - text: Findings support the development of CDK and Raf co-targeting strategies in EGFR/HER-2-overexpressing or RAS/RAF mutant breast cancer (BC). - pmids: - - "23908594" - - text: "We also examined 61 of our cases for the presence of PIK3CA, AKT1, PTEN and K-RAS mutations." - pmids: - - "23728071" - - text: Colorectal cancer patients with low abundance of KRAS mutation may benefit from EGFR antibody therapy. - pmids: - - "23874486" - - text: study demonstrated that mucinous adenocarcinomas with KRAS mutations have clinicopathologic characteristics different from those of mucinous adenocarcinoma without such mutations - pmids: - - "24119562" - - text: identified inositol trisphosphate receptors as unique effectors of K-Ras4B that antagonize the prosurvival signals of other K-Ras effectors. - pmids: - - "24297914" - - text: Mutant KRAS is a druggable target for pancreatic cancer. - pmids: - - "24297898" - - text: "Cigarette smoking did not influence the frequency of KRAS mutations in lung adenocarcinomas in Korean patients, but influenced qualitative differences in the KRAS mutations." - pmids: - - "23709419" - - text: Differences in the regulation of K-Ras and H-Ras isoforms by monoubiquitination. - pmids: - - "24247240" - - text: RAS is the most frequently mutated oncogene in cancers. Isoprenylcysteine carboxylmethyltransferase (ICMT) methylates RAS and other CaaX-containing proteins. - pmids: - - "24216479" - - text: the expression of EGFR protein by immunohistochemistry and KRAS gene mutation at codons 12 and 13 by using paraffin-embedded and formalin-fixed primary tumor tissues from 205 patients with squamous cell carcinoma of the head and neck - pmids: - - "22441881" - - text: The brain microenvironment negatively regulates miRNA-768-3p to enhance K-ras and promote metastasis. - pmids: - - "23928793" - - text: Mutations in different KRAS codons may have different effects on rectal cancer resistance to neoadjuvant chemoradiation therapy - pmids: - - "23456389" - - text: KRAS as a prognostic marker of non-small-cell lung cancer (Review) - pmids: - - "23524403" - - text: Higher frequency of k-ras mutations are associated with endometrial carcinomas with significant mucinous differentiation. - pmids: - - "23851676" - - text: "loss of RASSF1A may be involved in pathogenesis of colorectal cancer (CRC), its expression was found predominantly in K-ras wild-type CRCs." - pmids: - - "23865079" - - text: "Data indicate that coexistence of EML4-ALK fusion or ALK copy number increase and EGFR, MET, and KRAS mutations in tumor tissue from two treatment-naive Chinese non-small cell lung cancer (NSCLC) patients." - pmids: - - "24200637" - - text: study demonstrated that RAS mutations frequently occur in Mixed Lineage Leukemia (MLL)-rearranged infant acute lymphoblastic leukemia (ALL) cases and especially in t(4;11)-positive infant ALL patients and their presence represents an independent poor prognostic factor - pmids: - - "23403319" - - text: "Of 54 intrahepatic cholangiocarcinoma cases, 7.4% were mutant for KRAS, 7.4% were mutant for BRAF, and these were mutually exclusive. These cases were associated with a higher tumor stage and a greater likelihood of lymph node involvement." - pmids: - - "24139215" - - text: Report role of KRAS oncogenetic risk classification in the prognosis of adult T-cell acute lymphoblastic leukemia. - pmids: - - "24166518" - - text: "K-RAS mutations are associated with a worse overall survival in patients with non-small cell lung cancer, especially in patients with adenocarcinoma and early stage." - pmids: - - "23608713" - - text: KRAS mutation status is not a significant prognostic marker in patients with resected non-small-cell lung cancer. - pmids: - - "23630215" - - text: Data indicate that dual targeted inhibitors of PI3K/mTOR in combination with inhibitors of RAS/ERK signalling as a potentially effective approach to treating ovarian cancer. - pmids: - - "24011934" - - text: The detection of activating somatic mutations in gene KRAS using pyrosequencing technique - pmids: - - "24340949" - - text: "KRAS-mutated carcinomas frequently develop in contiguity with a residual polyp and show molecular features distinct from other colorectal carcinomas, in particular from tumors with neither BRAF nor KRAS mutation." - pmids: - - "23348904" - - text: KRAS mutation is not associated with treatment response in rectal cancer. - pmids: - - "23473635" - - text: KRAS status was an independent predictor of overall and recurrence-free survival. - pmids: - - "24104864" - - text: These results suggested KRAS mutations have an independent prognostic value for chemotherapy in advanced non-small cell lung cancer. - pmids: - - "23724098" - - text: KRAS mutations are associated with proliferative thyroid lesions. - pmids: - - "24222113" - - text: Data show that somatic cell knockin of both KRAS G12V and oncogenic PIK3CA mutations in human breast epithelial cells results in cooperative activation of the phosphoinositide 3-kinase (PI3K) and mitogen-activated protein kinase (MAPK) pathways. - pmids: - - "23580570" - - text: data showed that there was no significant difference in the mutation frequency of the KRAS gene between primary and distant metastatic colorectal tumors or lymph node metastatic tumors - pmids: - - "22744738" - - text: This study demonstrated that either BRAF or RAS mutations were present in two thirds of follicular variants of papillary thyroid carcinomas and these mutations were mutually exclusive. - pmids: - - "23625203" - - text: we have shown that patients harbouring KRAS low frequency mutations benefit less than others from anti-EGFR therapy. - pmids: - - "23293113" - - text: KRAS mutation is associated with myelodysplastic syndromes and acute myeloid leukemia. - pmids: - - "23774633" - - text: "Data indicate that of the 32 cardio-facio-cutaneous syndrome (CFC) patients, 28 (88%) had a known mutation in a gene that is causative for CFC, including BRAF (n = 21), MEK1 (n = 2), MEK2 (n = 4), and KRAS (n = 1)." - pmids: - - "22946697" - - text: K-ras mutation status and subtypes may be associated with survival duration in pancreatic cancer patients. - pmids: - - "22983505" - - text: "The mutational spectrum of KRAS exon 1 in bladder tumours, colorectal cancer (CRC) and chronic myeloid leukemia (CML), was analysed." - pmids: - - "23640097" - - text: Stem cells with Kras(G12D) activation and Smad4 depletion can produce tumors that are multipotent and susceptible to epithelial mesenchymal transformation and metastasis. - pmids: - - "23999427" - - text: Data indicate that (4-Chloro-2-(piperidin-1-yl)thiazol-5-yl)(phenyl)methanone and (4-bromo-2-(piperidin-1-yl)thiazol-5-yl)(phenyl)methanone inhibited cell growth through inhibition of both alpha-1 Na(+)/K(+)-ATPase (NAK) and Ras oncogene activity. - pmids: - - "23474907" - - text: Data indicate that epiregulin (EREG) expression significantly correlated with KRAS expression or KRAS copy number in KRAS-mutant non-small-cell lung cancer (NSCLC) cell lines. - pmids: - - "22964644" - - text: "The T allele of the let-7 binding site polymorphism rs712 in KRAS 3' UTR was associated with a significantly increased risk of gastric cancer." - pmids: - - "23729275" - - text: "KRAS mutations,found in smokers, are often activated in lung cancers, with mutations in about 20% of NSCLCs. Most are single amino acid substitutions in codons 12, 13, or 61. It is a negative marker for the efficacy of EGFR TKI in patients with NSCLC" - pmids: - - "23841470" - - text: Data indicate that p38delta mediates oncogene-induced senescence through a p53- and p16(INK4A)-independent mechanism. - pmids: - - "23878395" - - text: "KRAS mutations with synchronous TP53 mutations occur predominantly in low-grade mucinous carcinomas, suggesting a specific molecular background of this ovarian cancer type." - pmids: - - "23965232" - - text: KRAS/NRAS mutation predicts early lung recurrence and worse survival after curative resection of colorectal liver metastases. - pmids: - - "24018645" - - text: demonstrated associations of KRAS mutations with well-differentiated and mucinous ovarian carcinomas. - pmids: - - "23800114" - - text: "Sinonasal intestinal-type adenocarcinomas share common alterations of the EGFR pathway with colorectal adenocarcinomas, except for a lower frequency of KRAS and BRAF mutations." - pmids: - - "23791006" - - text: KRAS mutations are associated with metastatic lung adenocarcinoma. - pmids: - - "23495083" - - text: Standard cytology provides adequate material for the assessment of EGFR and Kras mutational status in non-small cell lung cancer and colorectal cancer patients. - pmids: - - "22833420" - - text: The KRAS mutation rate of Japanese colorectal cancer patients was 37.6%. - pmids: - - "23657052" - - text: KRAS is rather a prognostic than a predictive biomarker in pancreatic cancer - pmids: - - "23435671" - - text: Specific morphologic features in colon cancer suggest a higher likelihood of the presence of KRAS mutations. These morphologic features overlap partially with those associated with DNA mismatch repair gene mutations - pmids: - - "23090042" - - text: "In patients with pancreatic ductal adenocarcinoma, solute carrier transporter (SLC) levels were not found to be associated with KRAS mutation status in exon 2" - pmids: - - "23934321" - - text: "only one mutation (K-Ras codon 13; Gly to Asp) was detected among the 61 hepatocellular carinoma patients studied; findings indicated that the activation of Ras proto-oncogenes by mutations in codons 12, 13 and 61 does not play a major role in hepatocellular carcinogenesis" - pmids: - - "23266750" - - text: We find that LDHB expression correlates to both KRAS genomic copy number gain and KRAS mutation in lung cancer cell lines and adenocarcinomas. - pmids: - - "23224736" - - text: "In patients with colorectal cancer expressing mutant KRAS, high levels of plasma KRAS was associated with early disease progression." - pmids: - - "23514584" - - text: "DAB2IP expression was reduced in patients with pancreatic cancer compared with those with no cancer. DAB2IP expression was correlated with the KRAS gene, perineurial invasion and clinical stage of the disease." - pmids: - - "23558076" - - text: "KRAS destruction by RC-U occurred through a ubiquitin-dependent, proteasome-mediated degradation pathway. RC-U inhibited pancreatic cancer cell growth in vitro and in vivo." - pmids: - - "23288781" - - text: "mutational status of N-RAS and K-RAS genes in a cohort of 504 Chinese acute myeloid leukemia patients; mutation frequency of N-RAS and K-RAS were 9.7 percent and 2.9 percent respectively; concluded RAS mutations are associated with some biologically specific subtypes of AML but don't impact clinical outcome in Chinese patients" - pmids: - - "23313659" - - text: Mutation status of KRAS is the same in primary colorectal neoplasms and metastasis. - pmids: - - "23538047" - - text: Taiwanese patients with metastatic colorectal cancer respond better to a cetuximab plus chemotherapy regime if their tumors have the wild-type KRAS gene - pmids: - - "23790176" - - text: Breast tumors with KRAS codon 12 mutations seem to present a worse prognosis. - pmids: - - "23555992" - - text: "indicate that patients with mutant KRAS tumors fail to benefit from adjuvant chemotherapy and do not respond to EGFR inhibitors[review]" - pmids: - - "23122493" - - text: findings demonstrate that the presence of a K-ras mutation correlated with high initial CEA and CA 19-9 levels in patients with metastatic colorectal cancer - pmids: - - "23625655" - - text: acquired EGFR and KRAS mutations do not constitute the main mechanism of resistance to anti-EGFR mAb - pmids: - - "23765179" - - text: "The association of survival in PDAC patients with CDKN2A aberrations in tumors was not statistically significant, the sub-group with concomitant KRAS mutations and CDKN2A alterations were associated with lower survival." - pmids: - - "23565280" - - text: TIMP1 is an upregulated gene product and a proliferative inducer of K-Ras(G12D)-mutated pancreatic ductal cells through the ERK2 signaling pathway. - pmids: - - "23555182" - - text: "About one fourth of mCRC cases wild-type for KRAS codons 12 and 13 present other mutations either in KRAS, BRAF, or PIK3CA, many of which may explain the lack of response to anti-EGFR therapy observed in a significant proportion of these patients." - pmids: - - "23548132" - - text: Large multicentre study demonstrated that KRAS mutations and DNA MMR deficiency have a role in a small subgroup of gastric cancer. - pmids: - - "23511561" - - text: Results support a role for the PAK4 and PAK1 in the proliferation of mutant KRAS-driven colorectal carcinoma cells via pathways not involving RAF/MEK/ERK and PI3K/AKT signaling - pmids: - - "23233484" - - text: "RAS mutations, in addition to KRAS exon 2 mutations, predict a lack of response to anti-EGFR therapy in patients with metastatic colorectal cancer." - pmids: - - "24024839" - - text: KRAS mutations are associated with lung cancer. - pmids: - - "23392229" - - text: colorectal tumor tissue was analyzed utilizing WAVE mutation analysis to determine if regions of the tumor display heterogeneity in the expression of mutated KRAS and if regions within tissue blocks uniformly display resistant or susceptible phenotypes - pmids: - - "23528430" - - text: The current study demonstrates that the presence of GNAS in combination with KRAS in pancreatic cystic fluid obtained by EUSFNA improves the sensitivity for diagnosis of intraductal papillary mucinous neoplasms - pmids: - - "23498145" - - text: KRAS mutation rate decreased from 4.6% (3/66) to 3.0% (2/66) with Neoadj-Chemo. - pmids: - - "23520442" - - text: KRAS mutations are associated with solid predominant lung tumors. - pmids: - - "23486266" - - text: KRAS mutations in codons 12 and 13 of exon 2 in one hundred formalin-fixed paraffin-embedded (FFPE) colorectal cancer samples by three different methods - pmids: - - "22865324" - - text: Red blood cell folic acid is significantly deficient in colorectal cancer patients with K-ras mutations. - pmids: - - "22929917" - - text: "KRAS mutations, detected in pancreatic cyst fluid, are associated with mucinous cysts and progression and development of malignancy and should be considered in assessing pancreatic cysts." - pmids: - - "23267865" - - text: Adding panitumumab to irinotecan did not improve the overall survival of patients with wild-type KRAS tumours. - pmids: - - "23725851" - - text: KRAS mutation is associated with lung cancer and is not associated with response to EGFR-tyrosine kinase inhibitors or chemotherapy. - pmids: - - "23208128" - - text: "One hundred and ten patients (51%) were identified who were potentially nonresponders to anti-EGFR therapy: 90/209 patients (43%) harbored the KRAS mutations." - pmids: - - "23125007" - - text: "Data show that KRAS codon 12/13 mutations have negative prognostic value in metastatic colorectal cancer patients treated with FOLFOX/XELOX, but is not predictive of treatment benefit with cediranib, using progression-free survival and overall survival." - pmids: - - "23510802" - - text: we did not find a correlation between the presence of a K-ras mutation and the presence of Epiregulin and Amphiregulin in colon cancer tissue. - pmids: - - "23885463" - - text: BRAF and codon 12 KRAS mutations predict for adverse outcome of colorectal cancer patients receiving cetuximab. - pmids: - - "23374602" - - text: "Data indicate that Ras inhibition by Salirasib (FTS) induced autophagy in several cell lines, including mouse embryonic fibroblasts and the human cancer cell lines HeLa, HCT-116 and DLD-1." - pmids: - - "23370967" - - text: High KRAS expression is associated with the proliferation and invasion of non-small cell lung cancer. - pmids: - - "23134218" - - text: KRAS mutations are found in up to 95% of pancreatic cancer cases. - pmids: - - "23174662" - - text: "Mutations in genes pertaining to the canonical RAS pathway are found in a minority of adenoid cystic carcinomas, and that activating KIT mutations are either absent or remarkably rare in these cancers." - pmids: - - "23398044" - - text: EGFR and KRAS mutational rates were comparable in primary and unpaired metastatic lung adenocarcinoma in pre-chemotherapy and postchemotherapy groups. - pmids: - - "23337026" - - text: Examination of 6 PDACs revealed that 4 of 5 gastric-type IPMNs negative for GNAS mutations contained mutations in codon 12 of KRAS. Mutations in codon 13 of KRAS were not identified in PDACs and IPMNs. - pmids: - - "23532108" - - text: KRAS mutations in codon 13 have similar behavior as KRAS WT. - pmids: - - "23437064" - - text: "Data indicate that the concordance between EGFR and KRAS mutational status in 29 paired scraped smears and needle washing was 100%, with 7 paired samples showing the same EGFR mutation and 8 paired samples showing the same KRAS mutations." - pmids: - - "23352033" - - text: KRAS mutation is suggested to be poor prognostic factors in CRLM. - pmids: - - "23010994" - - text: These data support the utility of the therascreen KRAS kit as a means of selecting patients who may benefit from cetuximab therapy. - pmids: - - "23030695" - - text: KRAS mutations is associated with colorectal cancer. - pmids: - - "23324583" - - text: The status of EGFR and KRAS mutation in serum was not prognostic in patients with advanced non-small cell lung cancer - pmids: - - "23307237" - - text: "KRAS gene mutation predict poor prognosis in colorectal cancer patients, treated with EGFR inhibitors." - pmids: - - "23155138" - - text: Report K-ras mutations in pancreatic ductal carcinoma and their relationship to patient survival. - pmids: - - "23344532" - - text: Establishment of molecular subgroups based on KRAS and BRAF mutation status is important and should be considered in future prognostic studies in colorectal carcinoma. - pmids: - - "23660947" - - text: "The present study revealed that ESCC of Brazilian patients do not present mutations in hot spots of EGFR, K-RAS and BRAF and only a minor proportion present overexpression of EGFR or HER2." - pmids: - - "23207070" - - text: Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to neurofibromatosis - pmids: - - "23190154" - - text: collegiate smokers (former smokers who smoked between 101 lifetime cigarettes and 5 pack-years)with advanced-stage lung cancers represent a distinct subgroup of patients with a higher frequency of KRAS mutations and lower frequency of EGFR mutations compared with never smokers - pmids: - - "23242442" - - text: Data suggest that KRAS mutations in SW48 colorectal cancer cells are linked to resistance to sunitinib. - pmids: - - "23455880" - - text: Kirsten Ras (KRAS)-mutated CRC was associated with statistically significantly poorer survival after diagnosis than KRAS-wild-type CRC. - pmids: - - "23511557" - - text: presence of KRAS mutations in plasma in advanced non-small cell lung cancer may be a marker of poor prognosis and may also hold predictive value. - pmids: - - "23238036" - - text: "The findings provide evidence that HRAS and KRAS mutations are sufficient to cause nevus sebaceus without genome instability, LOH, or secondary mutation." - pmids: - - "23096712" - - text: The results confirm a strong correlation between activating RAS mutations and nevus sebaceus. - pmids: - - "23096709" - - text: "There was no association between the mutations and expression pattern of K-ras, APC and p53 in colorectal cancer among Indians." - pmids: - - "23526092" - - text: Intercellular transfer of mutant KRAS is a characteristic feature of invasive colonic cancer cells. - pmids: - - "23161513" - - text: the imbalance in expression of Aurora-A and BRCA2 regulates RAS-induced genomic instability and tumorigenesis - pmids: - - "23319376" - - text: "The prevalence of EML4-ALK, EGFR status and KRAS mutations in 208 Chinese patients with non-small cell lung cancer, is reported." - pmids: - - "23341890" - - text: "Wild-type copies of HRas, NRas and KRas play unique roles in the context of mutant KRas-driven tumors." - pmids: - - "23496764" - - text: An unusual phenotypic effect of the specific KRAS mutation or a coincidence of two independent disorders may be considered. KRAS mutation-associated phenotypes appear to be subject to considerable clinical heterogeneity - pmids: - - "21797849" - - text: "Our results confirm the importance of point mutations in KRAS codons 12, 13, and 61 in the molecular pathogenesis of colorectal adenocarcinomas in the Turkish population." - pmids: - - "23297805" - - text: K-RAS and B-RAF mutations do not seem to be predictive of treatment outcome as potential biomarkers for bevacizumab therapy in metastatic colorectal cancer. - pmids: - - "23613396" - - text: "sensitive, fast, and cost-effective screening method for KRAS mutations, and successfully detected low-abundance KRAS mutations in clinical samples, which will allow provision of more precise individualized cancer therapy." - pmids: - - "23355875" - - text: "The prevalence of RAS mutations in the present series of medullary thyroid cancer (MTC) was 10.1%, and 17.6% when considering only RET-negative cases. RAS mutations were found in MTC tumor tissue but not in peripheral blood indicating their somatic origin" - pmids: - - "23240926" - - text: Report KRAS mutations in ovarian serous carcinoma. - pmids: - - "23388101" - - text: "FGFR2, KRAS and PIK3CA are frequently mutated in primary and metastatic endometrial lesions." - pmids: - - "23300780" - - text: KRAS mutations are associated with colorectal cancer. - pmids: - - "23645765" - - text: let-7a over-expression represses the expression of k-Ras protein and significantly inhibits the growth of A549 lung cancer cells. - pmids: - - "21097396" - - text: Organs initially involved by distant metastasis were different according to the KRAS mutational status inmetastatic or recurrent colorectal cancer (MRCRC) patients. - pmids: - - "22876814" - - text: "KRAS and BRAF mutations are infrequent or absent, respectively in Intestinal-type sinonasal adenocarcinoma" - pmids: - - "23055340" - - text: Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. - pmids: - - "23059812" - - text: KRAS mutations are not associated with early stage colorectal cancer. - pmids: - - "23284732" - - text: Findings indicate that K-RAS regulates both caveolin-1 expression and other factors affecting caveolin-1 functions in colon cancer-derived cell migration. - pmids: - - "23280667" - - text: Our results suggest that response to Panitumumab treatment is not only controlled by the KRAS status but may also be essentially influenced by other regulating factors. - pmids: - - "21842425" - - text: "prevalence of KRAS mutations was identified in patients with ICC, BilIN-3, and BilIN-2 compared with BilIN-1. Furthermore, KRAS mutations were detected in LBD lesions and PBG lesions" - pmids: - - "23335286" - - text: KRAS mutations are not associated with tyrosine kinase inhibitors treatment efficacy in non-small cell lung cancer. - pmids: - - "23564819" - - text: An evaluation of cytomorphologic features of advanced lung adenocarcinomas that might be associated with KRAS mutational status. - pmids: - - "21681971" - - text: no evidence for association between endometriosis risk and rs61764370 or any other SNPs in KRAS - pmids: - - "23010532" - - text: KRAS mutations were frequently identified in mucinous adenocarcinoma subtypes. - pmids: - - "23242438" - - text: "mutations are good markers of different aetiologies and histopathological forms of lung cancers but have little prognostic value, with the exception of KRAS mutation, which may have a prognostic value in ADC." - pmids: - - "22267755" - - text: MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA by repressing RAS p21 GTPase activating protein 1 (RASA1) - pmids: - - "23322774" - - text: KRAS G>A mutation is associated with relapse in duodenal adenocarcinoma. - pmids: - - "23065691" - - text: Low-grade bladder papillary carcinoma is associated with mutation in the FGFR3 or in some cases mutations in RAS genes. - pmids: - - "23232572" - - text: Data indicate that in KRAS mutated tumours increased miR-200b and decreased miR-143 expression were associated with a good progression-free survival (PFS) upon treatment. - pmids: - - "22804917" - - text: KRAS mutation is present in a small subset of primary urinary bladder adenocarcinomas. - pmids: - - "22804747" - - text: "cell-autonomous phosphoinositide 3-kinase and 3-phosphoinositide-dependent protein kinase 1 are key effectors of oncogenic Kras in the pancreas, mediating cell plasticity, acinar-to-ductal metaplasia, and pancreatic ductal adenocarcinoma formation" - pmids: - - "23453624" - - text: "In CRC patients treated with cetuximab, activating mutation signatures for KRAS (75 genes) were developed." - pmids: - - "22798500" - - text: "KRAS codon 12 mutations (in particular, c.35G>T), but not codon 13 mutations, are associated with inferior survival in BRAF wild-type colorectal cancer." - pmids: - - "22753589" - - text: "QoL was evaluable in 627/666 patients (94%) with KRAS wild-type tumours; of these 52% received FOLFIRI, and 48% FOLFIRI plus cetuximab. Pattern mixture analysis revealed no significant differences." - pmids: - - "23116683" - - text: KRAS mutations are associated with response to therapy in colorectal neoplasms. - pmids: - - "22537608" - - text: KRAS mutations are associated with advanced colorectal neoplasms. - pmids: - - "22609129" - - text: "KRAS mutation has no significant correlation with colorectal carcinoma patients' age, tumor site, tumor gross appearance, degree of differentiation, depth of invasion, TNM stages, lymphatic invasion, abdominal or distant metastases and prognosis." - pmids: - - "23157828" - - text: "The detection rate of KRAS mutation is higher in female colorectal carcinoma patients than males. The presence of KRAS mutation does not significantly correlate with patients' age, tumor site, differentiation grades and histological types." - pmids: - - "23157826" - - text: "Codon 12, 13 in KRAS gene and codon 600 in BRAF gene are the most common mutation points in Chinese colorectal cancer. KRAS and BRAF mutations are mutually exclusive. KRAS and BRAF gene mutation is higher in females than that in males." - pmids: - - "23157824" - - text: "In Chinese colorectal carcinoma patients, KRAS mutations are associated with gender, age, tumor differentiation and primary tumor sites" - pmids: - - "23157823" - - text: "Mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not associated with sporadic vestibular schwannomas." - pmids: - - "23224067" - - text: "the reprogramming of glutamine metabolism is mediated by oncogenic KRAS, the signature genetic alteration in pancreatic ductal adenocarcinoma, through the transcriptional upregulation and repression of key metabolic enzymes in this pathway" - pmids: - - "23535601" - - text: "About one third of patients with colorectal adenocarcinoma have KRAS gene mutation, which might be related to patients' gender." - pmids: - - "23302307" - - text: "EGFR mutation rate is related with gender, smoking history and pathological type in non-small cell lung cancer patients, and is also related with differentiation and smoking history in adenocarcinoma patients." - pmids: - - "23302304" - - text: "Molecular characterization of single CTCs demonstrated considerable intra- and interpatient heterogeneity of EGFR expression and genetic alterations in EGFR, KRAS, and PIK3CA" - pmids: - - "23136247" - - text: metastatic colorectal cancer patients with the KRAS p.G13D mutation appeared to benefit more from cetuximab than patients who had tumors with KRAS codon 12 mutations - pmids: - - "22972628" - - text: Activating GNAS mutations are often associated with KRAS mutations as a characteristic genetic feature of pyloric gland adenomas (PGAs) of the stomach and duodenum. - pmids: - - "23208952" - - text: "A higher frequency of KRAS mutation G12C in women, their younger age, and lesser smoking history together support a heightened susceptibility to tobacco carcinogens." - pmids: - - "23014527" - - text: "Aim of this study was to characterize further the expression of RUNX3 in lung cancers.Inactivation of RUNX3 was observed in 70% of the adenocarcinoma samples, and this was associated with promoter hypermethylation but not biased to EGFR/KRAS mutations." - pmids: - - "22729835" - - text: "Investigated correlation between KRAS mutations and characteristics of non-advanced and advanced colorectal adenomas. KRAS mutations were detected in 31 % of the non-advanced adenomas, in 57.5 % of advanced adenomas and in 62.5 % of early carcinomas." - pmids: - - "22729813" - - text: Studies indicate that only mutant KRAS codon G12A was associated with a negative predictive effect on overall survival (OS). - pmids: - - "23182985" - - text: Analysis of hypermethylation status of a panel of genes and KRAS mutation detection offer a similar diagnostic yield in the evaluation of pancreatic masses. - pmids: - - "23135349" - - text: expression of these oncogenes markedly stimulated ERK1/2 activities and morphologically transformed IECs. - pmids: - - "22430215" - - text: Phospho-ERK may be a useful marker in combination with K-Ras for improving the prognosis of colorectal cancer. - pmids: - - "22864777" - - text: KRAS mutations were not detected in lung cancer patients harboring mutations in either EGFR or P53. - pmids: - - "23026641" - - text: Kras mutation and p53 overexpression rates in pseudomyxoma peritonei are comparable to those of colorectal adenomas and mucinous colorectal cancer. - pmids: - - "23199549" - - text: "Approximately 90% of medullary thyroid cancers had mutually exclusive mutations in RET, HRAS, and KRAS, suggesting that RET and RAS are the predominant driver pathways in medullary thyroid cancer." - pmids: - - "23264394" - - text: "The G12C KRAS mutation is a strong negative predictor for EGFR-TKI treatment, whereas other KRAS mutation types have not negatively predicted treatment efficacy compared with that for the wild-type KRAS genotype." - pmids: - - "23313110" - - text: there are conserved components of mutant K-Ras signaling and phenotypes but that many depend on cell context and environmental cues - pmids: - - "23188824" - - text: Sensitization of human pancreatic cancer cells harboring mutated K-ras to apoptosis. - pmids: - - "22848379" - - text: "Studied differential miRNA expression in metastatic colorectal cancer by microarrays from primary tumors of 33 patients who had wild-type KRAS/BRAF and third- to sixth-line anti-EGFRmAb treatment, with/without irinotecan." - pmids: - - "23098991" - - text: "findings show intratumoral heterogeneity of KRAS mutational status is rare in non-small cell lung cancer (NSCLC); finding is in line with hypothesis that oncogenic activation of KRAS is an early event and a bona fide \"driver mutation\" in NSCLC" - pmids: - - "23022742" - - text: "MSI status, KRAS and BRAF mutation rates varied remarkably among the colonic carcinoma subsites irrespective of right- and left-sided origin." - pmids: - - "22898351" - - text: A meta-analysis was performed to compare KRAS gene mutations in colorectal cancer tissue samples with primary and metastatic colorectal cancers - pmids: - - "23075074" - - text: KRAS mutation is associated with early-stage low-grade endometrial cancers. - pmids: - - "23013731" - - text: KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal cancer cell lines. - pmids: - - "23015072" - - text: "in Japanese colorectal cancer patients the KRASp.G13D mutation had prognostic impact in relation to disease-free survival in stage I-III disease, while the prognosis of stage IV patients without anti-EGFR antibody therapy was unaffected by KRAS status." - pmids: - - "22922794" - - text: "The low rate of K-ras and EGFR mutations, coupled with the high surface expression of EGFR, suggests similarity in the EGFR signalling pathway between Squamous cell anal carcinoma and squamous cell carcinoma of the head and neck." - pmids: - - "23093229" - - text: this study is the first to examine the prevalence of EGFR and KRAS mutations in a South American Brazilian population. - pmids: - - "22666783" - - text: Expression of RBM5 mRNA and protein was negatively correlated with expression of EGFR and KRAS mRNA and protein in NSCLC tissues. - pmids: - - "22537942" - - text: "ras-Induced up-regulation of CTP:phosphocholine cytidylyltransferase alpha contributes to malignant transformation of intestinal epithelial cells" - pmids: - - "23155050" - - text: Laboratories and clinicians need to be aware of the decrease in correct mutation call rate proportionally with decreasing percentage of tumor cells and that external quality assurance schemes need to address low tumor cell percentage in the test samples. - pmids: - - "23242173" - - text: "Metastatic colorectal cancer patients with KRAS codon 13 mutations demonstrate a greater clinical response to anti-EGFR treatment than patients with other KRAS mutations [review]" - pmids: - - "23090619" - - text: the frequency and spectrum of K-ras mutations among colorectal cancers Iraqi patients - pmids: - - "22842183" - - text: KRAS mutations predicted shorter survival for patients with advanced lung adenocarcinoma. - pmids: - - "22810899" - - text: "In patients with KRAS wild-type locally advanced rectal cancer, the addition of cetuximab to the chemoradiation with irinotecan plus capecitabine regimen was not associated with improved clinical outcome compared with chemoradiation without cetuximab" - pmids: - - "22672749" - - text: Evolutionarily conserved protein ERH controls CENP-E mRNA splicing and is required for the survival of KRAS mutant cancer cells. - pmids: - - "23236152" - - text: "a previously unknown link between activated K-Ras and menin, an important interplay governing tumor activation and suppression in the development of lung cancer." - pmids: - - "23027861" - - text: "EGFR and downstream genetic alterations in KRAS/BRAF and PI3K/AKT pathways have roles in colorectal cancer and treatment [review]" - pmids: - - "23021375" - - text: heterogeneity in frequencies of KRAS/PIK3CA somatic mutations is consistent with already-reported discrepancies in distribution of germline mutations for other malignancies within Sardinian population. - pmids: - - "22931052" - - text: Ddata suggest that KRAS alterations are linked to clinical phenotypes in endometrial carcinomas with increase in copy-number and mRNA expression levels from primary to metastatic lesions. - pmids: - - "23099803" - - text: The aim of the present study was to determine the frequency of EGFR and KRAS mutations in non-small cell lung cancer in the West European Dutch population. - pmids: - - "22528563" - - text: KRAS mutation is associated with response to therapy in non-small-cell lung cancer. - pmids: - - "22982650" - - text: "A novel interplay between K-ras and H-ras, with possible implications for colorectal carcinogenesis." - pmids: - - "22800643" - - text: The most significant discovery of the integrated validation is the down-regulation of FABP5 and PDCD4 in KRAS-activated human tumor bronchial epithelial cells. - pmids: - - "22761399" - - text: "In patients with surgically resected lung adenocarcinomas, the KRAS and EGFR gene mutation status of tumors was not associated with disease-free survival." - pmids: - - "21607772" - - text: KRAS mutation is not associated with response to therapy in metachronous and synchronous metastatic colorectal adenocarcinoma - pmids: - - "22674181" - - text: "A high frequency of KRAS gene mutations exists in Chinese patients with colorectal cancer, and are associated with poor survival, tumor differentiation and liver metastasis." - pmids: - - "22971512" - - text: K-ras mutation is strongly associated with perineural invasion phenotypically. K-ras mutation is an independent prognostic factor of intrahepatic cholangiocarcinoma after hepatectomy. - pmids: - - "22805857" - - text: K-RAS mutations and amino acid substitutions are associated with metastatic colorectal cancer. - pmids: - - "22791568" - - text: Assessment of the prognostic value of KRAS codon 12 and codon 13 mutations in tumor tissue from patients with advanced colorectal cancer using CAPOX or FUFOX treatment regimens. - pmids: - - "22876876" - - text: KRAS mutations were found only in the presence of neoplasia in patients with longstanding ulcerative colitis in India. - pmids: - - "22398042" - - text: Baseline sPLA(2)IIa expression predicts response to sPLA(2)IIa inhibition in some K-ras mutant lung cancer cells. - pmids: - - "23026567" - - text: "Authors found that EGFR WT/KRAS mutant advanced non-small cell lung cancer patients are associated with an increased resistance to treatment, specific mutant KRAS may account for differential sensitivity to an EGFR tyrosine kinase inhibitor." - pmids: - - "22770374" - - text: "The combined effects of EGFR downregulation, ligand competition, and immune effector function conspire to inhibit tumor growth in xenograft models of cetuximab-resistant BRAF and KRAS mutant cancers." - pmids: - - "22706026" - - text: Data indicate that RNA interference of KRAS variant caused a significant decrease in cell survival in the KRAS variant carrying epithelial ovarian cancer cell line. - pmids: - - "22139083" - - text: Data show that Med23 RNAi specifically inhibits the proliferation and tumorigenicity of lung cancer cells with hyperactive Ras activity. - pmids: - - "22988093" - - text: "By identifying the KRAS mutational status at the metastasized colorectal carcinoma, a statement about the benefit of an anti-EGFR-therapy can be given, which is nowadays the basis of diagnostic and therapy of this cancer." - pmids: - - "23111797" - - text: "In 76 patients with colorectal neoplasms, 5 missense mutations were detected in KRAS. 7 patients had multiple mutations, MSH2 and KRAS, APC and KRAS." - pmids: - - "22669205" - - text: KRAS mutations play a limited role in the development of sinonasal cancer. - pmids: - - "22459936" - - text: "DNA methylation of each marker was quantified using combined bisulfite restriction analysis (COBRA) and analyzed along with various genetic factors associated with CRC [the BRAF and KRAS mutations, MLH1 methylation and microsatellite instability" - pmids: - - "22006538" - - text: "These findings further validate the importance of the KRAS-variant in breast and ovarian cancer risk, and support the association of this variant as a genetic marker for HBOC families previously considered uninformative." - pmids: - - "22662244" - - text: Data suggests that KRAS codon 12 mutation may not represent a homogeneous entity in metastatic colorectal cancer when treated with cetuximab-based first-line therapy. - pmids: - - "22948721" - - text: Codon 13 KRAS mutation is a negative predicitive tumor marker in colorectal carcinoma treated with combined antineoplastic agents. - pmids: - - "22927534" - - text: This study provided further evidence for the prognostic importance of KRAS status in terms of recurrence-free and overall survival in patients with colorectal cancer liver metastases. - pmids: - - "23027075" - - text: Cancer cells expressing oncogenic KRAS were found to be highly dependent on the transcription factor GATA2 and the DNA replication initiation regulator CDC6. - pmids: - - "22613949" - - text: RAS mutations are frequent events in sporadic medullary thyroid carcinoma. - pmids: - - "22865907" - - text: Cetuximab addition to first line chemotherapy seems to benefit patients with KRAS mutant metastatic colorecttal neoplasms. - pmids: - - "22734028" - - text: "In this work we describe a simple and efficient method for synthesis of milligram quantities of functionally active, fully processed K-Ras4B, and we observe K-Ras4B dimerization in vitro." - pmids: - - "22569482" - - text: Oncogenic K-Ras regulates bioactive sphingolipids in a sphingosine kinase 1-dependent manner - pmids: - - "22833671" - - text: KRAS mutations were present rarely in stidied cohort of samples with breast cancer - pmids: - - "22386733" - - text: Twelve of 94 cases (13%) analyzed for KRAS mutations were found to have a mutation in this study of patients with endometrial cancer. - pmids: - - "22498935" - - text: "CD151 links alpha(3)beta(1)/alpha(6)beta(1) integrins to Ras, Rac1, and Cdc42 by promoting the formation of multimolecular complexes in the membrane, which leads to the up-regulation of adhesion-dependent small GTPase activation" - pmids: - - "22843693" - - text: "we have analyzed the prevalence of somatic mutations in the FGFR3, PIK3CA, AKT1, KRAS, HRAS, and BRAF genes in bladder cancers" - pmids: - - "22417847" - - text: KRAS G12A is important for IL-2-independent growth of PLT-2 cells and suggests the possibility of involvement of KRAS mutation with disease progression. - pmids: - - "23092099" - - text: Report of oncogenic BRAF/KRAS mutations in sporadic glomus tumors. - pmids: - - "22317887" - - text: The rareness of the TP53 mutation shown in this study supports that SCC seems to develop from multipotential stem cells in dysplasia or adenocarcinoma. The mutual wild type status of KRAS among the lesions further supported their identical clonality. - pmids: - - "22261536" - - text: "KRAS, BRAF, and PIK3CA mutations in colorectal cancer have sustained prevalence rate in the Taiwanese population." - pmids: - - "22579930" - - text: "Data indicate that KRAS, BRAF, PIK3CA, and AKT1 mutations can be rapidly and accurately detected for cancer diagnosis." - pmids: - - "22938585" - - text: "The numbers of primary lesions with wild-type and mutant KRAS codons 12 and 13 were 8 and 13, respectively." - pmids: - - "22617127" - - text: "Of 26 non-small cell lung cancer cell lines, 14 were KRAS mutant and 12 were wild type; short-term GATA2 knockdown led to specific decreased cell viability and increased apoptosis in KRAS mutant NSCLC cells, comparable to the effect seen with loss of KRAS itself." - pmids: - - "22541434" - - text: the spectrum and frequency distribution of the identified KRAS and BRAF mutations in Serbian patient with colorectal cancer are in good accordance with literature data. - pmids: - - "23033302" - - text: "Six KRAS mutations were detected by cobas that were not detected by Sanger, and five were confirmed by MPP." - pmids: - - "22713664" - - text: "KRAS is a target of miR-30c, and that this miRNA suppresses breast cancer cell growth potentially through inhibition of KRAS signaling." - pmids: - - "22701724" - - text: Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. - pmids: - - "22683711" - - text: "Tumors with KRAS mutations and NF-kappaB activation may be a unique subtype of colorectal cancer, and be more tolerant of chemotherapy and have a poorer prognosis." - pmids: - - "22526587" - - text: "CpG island methylation phenotype based on seven loci, BRAF V600E mutation and KRAS mutation in signet ring cell carcinoma were compared with mucinous and conventional adenocarcinomas" - pmids: - - "22522845" - - text: Gene mutations of K-ras are not associated with the postoperative prognosis of patients with hepatocellular carcinoma. - pmids: - - "22190283" - - text: KRAS mutant allele-specific imbalance is associated with colorectal adenocarcinoma. - pmids: - - "22290300" - - text: KRAS mutation is associated with colorectal serrated adenocarcinoma. - pmids: - - "22287190" - - text: "Digital PCR provides a robust, quantitative measure of the proportion of KRAS mutant alleles in routinely obtained samples" - pmids: - - "22745110" - - text: Data indicate that 14% with pancreatic ductal adenocarcinomas (PDACs) and 7% ampullary adenocarcinomas (A-ACs) had mutations in both KRAS and BRAF. - pmids: - - "22699145" - - text: These findings support the hypothesis that endometriosis-associated and independent endometrioid adenocarcinoma may develop via different molecular pathways and that KRAS mutations have an important role only in the former tumors. - pmids: - - "22305241" - - text: "Metopic suture involvement has not been described before, expanding the main different cranial sutures which can be affected in Noonan syndrome and KRAS gene mutations" - pmids: - - "22488932" - - text: A considerable proportion of NSCLC in Chinese patients showed discrepancy in KRAS and EGFR mutation status between primary tumors and corresponding metastases. - pmids: - - "22177492" - - text: KRAS mutations to be more frequent than NRAS mutations in pediatric patients with acute myeloid leukemia. - pmids: - - "22407852" - - text: "Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1." - pmids: - - "22773810" - - text: AKT1-GLI3-VMP1 pathway mediates KRAS oncogene-induced autophagy in cancer cells. - pmids: - - "22535956" - - text: "This is the first description of an oncogenic gene fusion of KRAS, one of the most studied proto-oncogenes." - pmids: - - "22140652" - - text: Single nucleotide polymorphism in KRAS is associated with synchronous endometrial and ovarian cancer. - pmids: - - "22635024" - - text: "In the KRAS gene, 10 substitutions at codon 12 were observed in lung adenocarcinomas from a Chiba Prefecture, Japan cohort." - pmids: - - "22460425" - - text: "The presence of activating GNAS mutations, in association with KRAS or BRAF mutations, is a characteristic genetic feature of colorectal villous adenoma." - pmids: - - "22374786" - - text: role of KRAS mutations in esophageal squamous-cell carcinoma carcinogenesis (Review) - pmids: - - "22020370" - - text: Mutations in the KRAS gene are a negative predictive factor for response to cetuximab with very high specificity and low sensitivity - pmids: - - "22517696" - - text: Review and meta-analysis found that K-ras gene mutations seem not to correlate with the prognosis of patients with colorectal cancer. - pmids: - - "22810479" - - text: "In the present study, we did not find any significant correlations between KRAS, BRAF and PIK3CA mutations and the loss of PTEN expression and various clinicopathological features in Chinese patients with colorectal cancer." - pmids: - - "22586484" - - text: "Chemotherapy effect seems to increase with tumor size. However, this small study could not identify subgroups of patients who did or did not derive significant benefit from adjuvant chemotherapy based on T-size or KRAS status." - pmids: - - "22588152" - - text: All mucinous growths in congenital pulmonary airway malformations were characterized by KRAS missense mutations. - pmids: - - "22348416" - - text: "BRAF genotype, but not KRAS, was found to be an independent prognostic biomarker." - pmids: - - "22331825" - - text: "Investigation the prevalence of mutations in the KRAS gene and its correlation with demographic characteristics, tumor location and stage in 100 colorectal carcinoma patients from India." - pmids: - - "22427190" - - text: "This study emphasizes the functionality of cancer molecular genetic platforms dedicated to KRAS genotyping, which allow the use of molecular predictive biomarkers by different medical institutions." - pmids: - - "22735045" - - text: "KRAS and PIK3CA mutations frequently coexist in patients with colorectal cancer, and are associated with clinical characteristics and outcome." - pmids: - - "22675430" - - text: An acetylation-mimetic mutation in K-RAS4B suppressed guanine nucleotide exchange factor-induced nucleotide exchange and inhibited in vitro transforming activity. - pmids: - - "22711838" - - text: Mutations in kras proteins are present in benign lichenoid keratosis. - pmids: - - "22188534" - - text: MSP58 activates the DNA damage response and p53/p21 signaling pathways. - pmids: - - "22563078" - - text: K-ras mutations were detected in 17 (19.3%) colon cancer samples. - pmids: - - "22583358" - - text: KRAS mutation is associated with colorectal cancer. - pmids: - - "22337533" - - text: "analysis of FGFR2 point mutations in 466 endometrioid endometrial tumors and their relationship with MSI, KRAS, PIK3CA, CTNNB1 mutations" - pmids: - - "22383975" - - text: This study provides a step forward towards understanding the molecular and pathological significance of the KRAS-variant. - pmids: - - "22189714" - - text: KRAS may have a role in response of metastatic colorectal cancer to cetuximab - pmids: - - "22446022" - - text: study examined the mutational spectra of Ras isoforms curated from large-scale tumor profiling and found that each isoform exhibits surprisingly distinctive codon mutation and amino-acid substitution biases - pmids: - - "22589270" - - text: "Data indicate that 266 (76.2%) tumors harbored EGFR mutations, 16 (4.6%) HER2 mutations, 15 (4.3%) EML4-ALK fusions, 7 (2.0%) KRAS mutations, and 2 (0.6%) BRAF mutations." - pmids: - - "22317764" - - text: These data demonstrate a role for rs712 polymorphism of the KRAS in susceptibility of oral squamous cell carcinoma. - pmids: - - "21688344" - - text: Mutation of KRAS is associated with colorectal cancer. - pmids: - - "22489692" - - text: Oncogenic KRAS regulates 3D-specific miRNAs that are possibly associated with colorectal development in vivo. - pmids: - - "22641662" - - text: Report validity EGFR and KRAS mutation analysis in cytologic samples of lung adenocarcinoma enabled by laser capture microdissection. - pmids: - - "22157931" - - text: KRAS mutations are less common than previous reports and do not correlate with survival in pancreatobiliary neoplasms. - pmids: - - "22422135" - - text: Relationship of activating mutation in K-ras gene with essential clinical characteristics of colorectal tumor disease in different age groups. - pmids: - - "22708448" - - text: Colon adenocarcinomas with KRAS mutations have higher survival rates and morphologic characteristics distinct from those with BRAF mutations. - pmids: - - "22314188" - - text: African Americans with microsatellite stable tumors had a higher proportion of KRAS mutations than Caucasians that were isolated to proximal colon cancers and primarily driven by mutations in codon 13. - pmids: - - "22114137" - - text: K-Ras knockdown abolished the insulin-like growth factor-1 (IGF-1)-induced ERK pathway in the K-Ras mt pancreatic ductal adenocarcinomas cells - pmids: - - "22342683" - - text: data indicate that miRNA-143 expression levels serve as an independent prognostic biomarker for CRC in KRAS wild-type patients - pmids: - - "22549179" - - text: The presence of both KRAS mutations and the active form of NF-kappaB in CRC tumors indicates poor patient prognosis. - pmids: - - "22327383" - - text: KRAS mutations were higher in males compared to females and higher in adenocarcinomas compared to other forms of lung cancers - pmids: - - "22430133" - - text: "Data indicate that TaqMan(R) Mutation Detection assay is an important technology to consider in the field of mutation detection for KRAS, BRAF and EGFR point mutation screening." - pmids: - - "22426079" - - text: findings implicate that N116S change in KRAS is a hyperactive mutation which is a causative agent of Noonan syndrome through maldevelopment of the heart - pmids: - - "22302539" - - text: An inherited polymorphism of a let-7 miRNA binding site in KRAS leads to abnormal endometrial growth and endometriosis. - pmids: - - "22307873" - - text: Oncogenic KRAS can downregulate Bmp4 through a transcriptional pathway that depends on ERK. These findings point to a unique link between two pathways that are frequently altered in colon cancer. - pmids: - - "22383492" - - text: Our data do not support the hypothesis that the KRAS variant rs61764370 is implicated in the aetiology of sporadic or of familial breast cancer. - pmids: - - "22436609" - - text: "KRAS mutations occurred in conventional adenomas, which were more commonly located in the proximal colon and associated with higher risk for colorectal cancer." - pmids: - - "22510757" - - text: Mutations detected in KRAS in microdissected samples from different areas of the same tumor (colon cancer) differed according to immunophenotype. - pmids: - - "22198706" - - text: Savings of drug costs minus the costs for the determination of KRAS status accounted for EUR 779.42 (SD +/-336.28) per patient per cycle. - pmids: - - "22248908" - - text: "K-RAS mutation may regulate the ERK pathway, which in turn increases the expression of GGT2" - pmids: - - "22269385" - - text: These data suggest the activation of mitogen-activated protein kinase pathway as a possible novel mechanism of primary resistance to imatinib in GISTs - pmids: - - "22282465" - - text: cigarette smoking may be a stronger risk factor for KRAS mutation-negative tumors located in the proximal colon - pmids: - - "22349355" - - text: "Data indicate that PIK3CA mutations occur in lung adenocarcinomas, usually concurrently with EGFR, KRAS, and anaplastic lymphoma kinase (ALK)." - pmids: - - "22135231" - - text: "Letter: K-ras mutations in plasma correspond to computed tomographic findings in patients with pancreatic cancer and may serve as prognostic biomarker." - pmids: - - "22044911" - - text: Combination chemotherapy with biweekly cetuximab and irinotecan was effective for pretreated metastatic colorectal cancer with wild-type KRAS. - pmids: - - "21174225" - - text: Data suggest that expression status of AR and EPI mRNAs might be evaluated as dynamic predictors of response in KRAS WT patients receiving any cetuximab-based therapy. - pmids: - - "21161326" - - text: Our findings suggest that EGFR/KRAS mutations do not occur in pure pulmonary squamous cell carcinoma (SQCC). - pmids: - - "22228640" - - text: Plasma cell-free DNA and plasma mutant KRAS levels (pmKRAS) were strongly correlated. - pmids: - - "22228631" - - text: The KRAS status varied among different areas of the same metastatic focus in metastatic colorectal adenocarcinomas. - pmids: - - "22259183" - - text: Results indicate that early-stage colorectal cancer (CRC) with the KRAS-lethal-7 (let-7) miRNA complementary site (LCS6) variant have a better outcome. - pmids: - - "21994416" - - text: "This article reviewes the spectrum of KRAS/BRAF genotype and the impact of KRAS/BRAF mutations on the clinicopathological features and prognosis of patients with colorectal cancer. [review]" - pmids: - - "22043994" - - text: "there is a high frequency of G to A transition of codon 12 mutation of the K-ras gene, with significant correlation with tumour size and tumour location" - pmids: - - "22252179" - - text: "Report mutations in KRAS, EGFR, and BRAF in cholangiocarcinoma and identify therapeutic targets for tyrosine kinase inhibitors." - pmids: - - "22178589" - - text: the results provide strong evidence that CTNNB1 is the driver in these contexts and that KRAS(G12D) and Pten loss promote the program set in motion by the CTNNB1. - pmids: - - "21860425" - - text: Four of the 27 patients were positive for K-ras mutation - pmids: - - "22421763" - - text: mutation of KRAS gene may serve as useful clinical tool for analyzing point mutations in various clinical samples - pmids: - - "22394035" - - text: Data show that IL-8 overexpression is induced by activating mutations of KRAS or EGFR in non-small cell lung cancer (NSCLC) cells. - pmids: - - "21544811" - - text: "The K-RAS protein is associated with mitochondria, and induces a rapid suppression of respiratory chain complex-I and a decrease in mitochondrial transmembrane potential by affecting the cyclosporin-sensitive permeability transition pore." - pmids: - - "21876558" - - text: KRAS mutant cancer cells showed variable response to AZD6244. - pmids: - - "22082529" - - text: "KRAS mutation is inversely associated with interval cancers and with MSI, suggesting that it is a marker of the chromosomal instability pathway associated with slow tumor growth." - pmids: - - "22138963" - - text: Combined mutations in codons 12 and 13 of KRAS are relatively infrequent and most commonly occur in prostate carcinomas. - pmids: - - "21607617" - - text: "GLUT1 overexpression status was significantly correlated with gene mutation status, including EGFR and Kras" - pmids: - - "22200795" - - text: the incidence of EGFR and KRAS mutations in Chinese patients with adenosquamous carcinoma of the lung were similar to those of Asian patients with adenocarcinoma - pmids: - - "21592614" - - text: KRAS mutation is an early hit in lung adenocarcinoma development. - pmids: - - "21839537" - - text: the activity of myeloblastin was significantly altered in the lung adenocarcinoma biopsies harboring a KRAS gene mutation. - pmids: - - "22210048" - - text: Data suggest that recurring DNA copy alterations are important for tumor progression in the Kras(LA2) model of lung cancer and that the requirement for these alterations may be dependent on the genetic background of the mouse strain. - pmids: - - "21807965" - - text: The mutation status of the KRAS gene is likely involved in mTOR pathway and to be a prognosis marker for colorectal cancer in kidney transplantation. - pmids: - - "22245873" - - text: Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome) - pmids: - - "21871821" - - text: "Phospho-ERK and AKT status, but not KRAS mutation status, are associated with outcomes in rectal cancer treated with chemoradiotherapy" - pmids: - - "21910869" - - text: Patients with pancreatic cancer with KRAS mutations showed a worse response to chemotherapy than those with wild-type KRAS. - pmids: - - "21862683" - - text: "Mutated Kras(G12D)-activated AP-1 induces IL-1alpha, which, in turn, activates NF-kappaB and its target genes IL-1alpha and p62, to initiate IL-1alpha/p62 feedforward loops for inducing and sustaining NF-kappaB activity." - pmids: - - "22264792" - - text: "In sporadic colorectal tumourspatients, the most frequently mutated gene was APC (68.9% of tumours), followed by KRAS (31.1%), TP53 (27.2%), BRAF (8.7%) and CTNNB1 (1.9%)." - pmids: - - "21901162" - - text: data suggest that TAK1 functions as a prosurvival mediator in cancer cells displaying hyperactive KRAS-dependent Wnt signaling. - pmids: - - "22341439" - - text: "In total, 29% of the false-negative or doubtful cytology results were accompanied by RASSF1A methylation or KRAS mutation results that were highly suggestive of malignancy." - pmids: - - "21700687" - - text: "BRAF and KRAS mutations were observed in six (46.2%) and four (30.3%) filiform serrated adenomaS, respectively." - pmids: - - "22157687" - - text: KRAS mutation is associated with nonsmall cell lung cancer. - pmids: - - "21720997" - - text: Adenoma with intermediate-methylation epigenotype correlated to KRAS-mutation((+)). - pmids: - - "22115708" - - text: loss of heterozygosity at Kras can provide cancer cells functional growth advantages and promote metastasis. - pmids: - - "22113502" - - text: mitochondrial functional loss may be mediated by oncogenic K-Ras-induced mitophagy during early tumorigenesis even in the absence of hypoxia - pmids: - - "21738012" - - text: The detection of KRAS mutant allele-specific imbalance in lung adenocarcinomas may identify patients with more aggressive disease. - pmids: - - "21743433" - - text: "study presents a novel functional interaction of p16 and K-Ras. Re-expression of the tumor suppressor in pancreatic cancer cells restricted Ras oncoprotein activity, which resulted in loss or reduction of their transforming potential" - pmids: - - "22049925" - - text: "These results strongly suggested that the oncogenic RAS upregulates EZH2 through MEK-ERK signaling, resulted in downregulation of tumor suppressors including RUNX3 in pancreatic carcinogenesis." - pmids: - - "22222375" - - text: Not all mutant KRas proteins affect patient survival or downstream signaling in a similar way. The heterogeneous behavior of mutant KRas proteins implies that ther interventions may need to take into account the specific mutant KRas expressed by the tumor - pmids: - - "22247021" - - text: KRAS mutation is associated with metastatic colorectal cancer. - pmids: - - "22000810" - - text: samples of metastatic colorectal cancer were tested for the presence of the seven most common mutations in the KRAS gene and the V600E mutation in the BRAF gene - pmids: - - "20645028" - - text: Comparison of KRAS mutation tests in colorectal cancer patients. - pmids: - - "21699410" - - text: Data show that high-resolution melting analysis is a sensitive and accurate screening methodology for K-ras codons 12 and 13 mutations in clinical samples. - pmids: - - "21989023" - - text: "KRAS mutation status predicts a patient's likely response to the monoclonal antibody cetuximab." - pmids: - - "21851273" - - text: a possible etiological role of the Ki-ras mutation in the development of the low-grade mucinous tumors of the appendix - pmids: - - "21443421" - - text: The KRAS mutation occurred more frequently in lung tumor patients whose ;ung tumor diameter was >/= 31 mm than in those whose tumor diameter was <30 mm. - pmids: - - "21811765" - - text: The small number of tumors with co-expression of mutant K-Ras and MST2 has elevated apoptosis rates - pmids: - - "22195963" - - text: "The significance of tests for KRAS mutation in colorectal cancer is described together with varius test methods for the said mutation.[review]" - pmids: - - "22213982" - - text: "RET mutations may have a role in medullary thyroid carcinoma, while BRAF, AKT1, and CTNNB1 do not; the role of HRAS, KRAS, and NRAS mutations are not determined" - pmids: - - "22199277" - - text: "Our method for the detection of KRAS gene mutations may be useful to supplement histo/cytopathologic evaluations for pancreatic cancer, and is superior to serum CA19-9 in EUS-FNAB histo/cytopathology-indeterminate patients" - pmids: - - "21876563" - - text: Cell growth retardation was inhibited upon knockdown of K-Ras and an increase in the level of miR-622 in 16HBE-T cells - pmids: - - "22016468" - - text: Validated liquid-based cytology for EGFR and KRAS gene mutations and set appropriate laser capture microdissection and direct sequencing benchmarks. - pmids: - - "21945923" - - text: "colorectal cancer patients with low levels of tumor-infiltrating lymphocytes , a high CD1a(+)/DC-LAMP(+) tumor-infiltrating DC ratio, and a KRAS mutation in codon 13 are at a high risk of disease recurrences" - pmids: - - "21884745" - - text: "compared with KRAS codon 12 mutations, codon 13-mutated metastatic colorectal cancer presents as a more aggressive disease frequently associated with local and distant metastases at first diagnosis" - pmids: - - "21795973" - - text: KRAS mutations in primary NSCLC foci may be a more accurate biomarker than in metastases to reflect KRAS mutation status. - pmids: - - "22011285" - - text: role of germline KRAS mutations in developmental disorders - pmids: - - "20949621" - - text: KRAS mutation G12V enhances the ability of colon adenocarcinoma cells to migrate and invade through filopodia formation and PI3K-dependent Cdc42 activation - pmids: - - "21943101" - - text: KRAS mutations are associated with non-small cell lung cancer. - pmids: - - "21949883" - - text: "KRAS gene may be instable during the metastatic process observed in non-small cell lung cancer, whereas the mutant KRAS genotype in the primary tumor could be more likely to change back to the wild-type after metastasis." - pmids: - - "21982684" - - text: "Heterogeneous distribution of K-ras codon 12 and 13 mutations within primary tumor, or between primary tumor and lymph node metastases, was demonstrated for 15 (20%) of 74 colon cancer patients having K-ras mutations." - pmids: - - "21573767" - - text: Combining routine cytology with FISH and K-ras mutational analyses improves diagnostic yield of endoscopic ultrasound-guided fine needle aspiration of solid pancreatic masses. - pmids: - - "21705950" - - text: gene amplification is associated with non-small cell lung carcinoma progression in both Swiss and Amertican cohorts - pmids: - - "21477882" - - text: Paxillin enables attachment-independent tyrosine phosphorylation of focal adhesion kinase and transformation by RAS - pmids: - - "21900245" - - text: These findings add information about the impact of specific amino acid changes in the Kras gene. - pmids: - - "21603900" - - text: APC and KRAS mutations in distal colorectal polyps are related to smoking habits in men. - pmids: - - "21865138" - - text: KRAS knockdown using shRNA suppressed ERK signaling in all of the KRAS mutant colorectal cancer cell lines examined. - pmids: - - "21985784" - - text: The presence of KRAS mutations and loss of PTEN expression were not associated with impaired response to cetuximab-based chemoradiotherapy and 3-year disease free survival. - pmids: - - "20947270" - - text: K-ras gene mutations were detected in four NSCLC cases (3.5%). - pmids: - - "21527506" - - text: data exclude the possibility of an association between KRAS rs61764370 and a clinically significant risk of ovarian cancer or of familial ovarian cancer - pmids: - - "21385923" - - text: The application of highly sensitive methods for the detection of KRAS mutations significantly improves the identification of mCRC patients resistant to anti-EGFR MoAbs. - pmids: - - "21632860" - - text: IFN-beta contributes to Ras transformation - pmids: - - "21897875" - - text: "Using human CRC samples, authors were able to show that there is crosstalk between the KRAS-mediated pathway and other signalling pathways." - pmids: - - "21531130" - - text: KRAS mutations are associated with treatment response in non-small cell lung cancer. - pmids: - - "21847063" - - text: strong positive correlation between the fraction of mutated KRAS alleles and the fraction of cancer cells in the samples indicate homogeneity of KRAS mutation status in colorectal carcinoma - pmids: - - "22016105" - - text: Mutant KRAS is associated with low drug response in metastatic colorectal cancer. - pmids: - - "21855038" - - text: "Preoperative chemoradiation with cetuximab, irinotecan, and capecitabine was active and well tolerated. KRAS mutation status was not a predictive factor for pathologic response in this study." - pmids: - - "20888703" - - text: KRAS mutation is associated with metastatic pancreatic ductal adenocarcinoma. - pmids: - - "21894049" - - text: KRAS-variant frequencies might be increased among BRCA1 carriers - pmids: - - "20676756" - - text: "the KRAS-variant was enriched in non-acral melanoma (25%), and miR-137 under expression was significantly associated with melanomas with the KRAS-variant." - pmids: - - "21543894" - - text: mutations confer antineoplastic drug resistance - pmids: - - "21277645" - - text: KRAS mutation is associated with metastatic colorectal cancer - pmids: - - "21962894" - - text: KRAS mutation status is a treatment effect modifier for anti-EGFR antibodies in metastatic colorectal cancer - pmids: - - "21550229" - - text: Mutant KRAS promotes hyperplasia and alters differentiation in the colon epithelium but does not expand the presumptive stem cell pool. - pmids: - - "21699772" - - text: "KRAS mutation detection may be reliably performed with high accuracy, allowing treatment decisions for lung cancer." - pmids: - - "21947301" - - text: "conclude that, in the colon and pancreas, Cten is a downstream target of Kras and may be a mechanism through which Kras regulates of cell motility" - pmids: - - "21698197" - - text: KRAS mutation in metastatic tumors is more commonly associated with advanced stages of cancer and correlates with a heavy smoking history. - pmids: - - "21497370" - - text: "Non-BAC adenocarcinoma is related to smoking history and has a poor prognosis. BAC/adenocarcinoma with bronchioloalveolar features adenocarcinoma, however, has a more favorable prognosis." - pmids: - - "21387273" - - text: "Under serum-starved conditions, the expression level of RRM2 protein increased in HCT116 cells compared to HKe3 cells (HCT116 cells with a disruption in oncogenic KRAS), and the re-expression of KRAS in HKe3 cells induced the expression of RRM2." - pmids: - - "21873171" - - text: "HKe3 cells stably overexpressing oncogenic KRAS showed increased expression of miR-200c, miR-221 and miR-222 and reduced expression of its target PTEN exclusively in 3D culture. These miRNAs were also overexpressed in colorectal tumor specimens." - pmids: - - "21873159" - - text: KRAS mutation is associated with treatment response for metastatic colorectal cancer. - pmids: - - "21228335" - - text: Heterogeneous KRAS mutations within the primary colorectal tumor might play an important role for discordant KRAS status between primary and metastatic sites. - pmids: - - "21825899" - - text: STK33 downregulation or dominant mutant overexpression had no effect on KRAS signaling or survival of cancer cells. - pmids: - - "21742770" - - text: KRAS mutation strongly predicts for a lack of clinically meaningful benefit in colorectal cancer patients. - pmids: - - "21737635" - - text: K-rasVal12 and mutant Apc have a synergistic role in intestinal neoplasms - pmids: - - "21573497" - - text: "To define functions of STAT3 in vivo, authors test the impact of conditional inactivation of STAT3 in KRAS-driven PDAC." - pmids: - - "21586612" - - text: "demonstrate that mutant K-Ras enhances ETS2 loading onto the promoter, and ETS requires its transcriptional activity to increase GSK-3beta gene transcription in pancreatic cancer cells" - pmids: - - "21441955" - - text: the relationship between the mutation of K-ras gene and non-small cell lung cancer - pmids: - - "21645454" - - text: A pathway in which Max & RXRalpha inhibit miR-193a activates the PLAU & K-Ras oncogenes is important for distinct aspects of cellular transformation. miR-193a controls anchorage-independent growth in soft agar through K-Ras. - pmids: - - "21670079" - - text: Neoadjuvant chemoradiotherapy did not alter KRAS codon 12 or 13 or microsatellite instability results in rectal adenocarcinoma. - pmids: - - "21836482" - - text: A novel polymorphism in codon 25 of the KRAS gene associated with gallbladder carcinoma patients of the eastern part of India - pmids: - - "21375404" - - text: KRAS mutations are not associated with response to Bexarotene plus erlotinib therapy in lung carcinogenesis. - pmids: - - "21636548" - - text: The frequency of KRAS mutations was significantly higher in lesions with the adenomatous pattern than in lesions with the hyperplastic pattern. - pmids: - - "21427714" - - text: Data show distinct significant correlations between TITF-1 protein expression and DNA copy gain with mutations in the lung adenocarcinoma-prevalent EGFR and KRAS oncogenes. - pmids: - - "21257719" - - text: low- and high-resolution mapping of nucleosome boundaries around p53 REs within the p21 promoter have provided insight into the mechanism of p53 binding to its sites in cells and the consequent changes in nucleosome occupancy at such sites - pmids: - - "21606339" - - text: Stromal cells in colorectal carcinoma do not share KRAS mutations that the epithelial component harbors. - pmids: - - "21624768" - - text: Heterogeneity of KRAS and BRAF mutation status intra-tumorally in colorectal cancer was assessed. - pmids: - - "21483104" - - text: Effective inhibition of the EGFR signaling by the drug combination in KRAS wild-type cells but not in KRAS mutant cells. - pmids: - - "21385921" - - text: "Case Report: KRAS-mutation positive, metastatic tonsil carcinoma with cancer stem-like cell features and long-term response to gefitinib." - pmids: - - "21555681" - - text: "KRAS mutation seems to be associated with metastasis in specific sites, lung and brain, in colorectal cancer patients" - pmids: - - "21239505" - - text: mutations at codon 12 in plasma DNA is not a prognostic factor in advanced non-small cell lung cancer patients - pmids: - - "21074889" - - text: evaluation of the status of 90 non-selected colorectal cancer Peruvian patients; only 16.7% (15/90) of tumours exhibited KRAS mutations (codons 12 and 13) - pmids: - - "21436632" - - text: "Mutation of oncogene K-ras at codon 12 and codon 13 is a common molecular event in colorectal carcinogenesis, which might be related with age and tumor location." - pmids: - - "21055216" - - text: TF may participate in both K-ras and p53 mutations involved in colorectal carcinogenesis. - pmids: - - "21404058" - - text: A review of several studies revealed a high rate of compliance of the KRAS gene mutational status in primary and metastatic tumors. - pmids: - - "21478103" - - text: Frequent mutations of KRAS in addition to BRAF in colorectal serrated adenocarcinoma - pmids: - - "21457162" - - text: Expression of chemokine receptor CCR5 correlates with the presence of hepatic molecular metastases in K-ras positive colorectal cancer. - pmids: - - "21468700" - - text: Grossly polypoid colorectal adenocarcinomas with a persistent pre-existing adenomatous polyp with villous architecture are strongly associated with KRAS mutations. - pmids: - - "21665177" - - text: Activated K-Ras protein accelerates human MLL/AF4-induced leukemo-lymphomogenicity in a transgenic mouse model. - pmids: - - "21311557" - - text: The diagnostic utility of detecting K-ras mutations for the diagnosis of exocrine pancreatic cancer (EPC) has not been properly studied - pmids: - - "21298467" - - text: data indicated that colorectal cancers with KRAS and PIK3CA bi-mutations are more likely to develop into liver metastasis - pmids: - - "21424126" - - text: "Folding motifs have been uncovered in a nuclease hypersensitive element (NHE) with a complex guanine pattern, located in the human KRAS promoter. A new G-rich motif of 21 nt capable of forming a parallel G-quadruplex was disrupted by bound protein UP1." - pmids: - - "21424008" - - text: Alterations of the KRAS gene is associated with myelodysplastic syndromes and acute myeloid leukemia. - pmids: - - "21283084" - - text: "analysis of gallbladder carcinomas, gallbladder adenomas, and high-grade dysplastic lesions for the BRAF and the KRAS mutations" - pmids: - - "21307665" - - text: "Primary esophageal melanomas of Caucasian patients harbor mutations of c-Kit, KRAS and BRAF in varied frequencies." - pmids: - - "21131919" - - text: "Studies indicate that the function of PKCdelta in tumor cells depends on a specific oncogenic context, as loss of PKCdelta in NSCLC cells suppressed transformed growth only in cells dependent on oncogenic K-ras for proliferation and survival." - pmids: - - "21335545" - - text: Combined KRAS and TP53 mutation status is not predictive in CAPOX-treated metastatic colorectal cancer. - pmids: - - "21508389" - - text: "Studies identify a novel proapoptotic gene target, CYFIP2, which is downregulated by IMP-1, and mediates the regulation of cell survival and K-Ras expression in colon cancer cells." - pmids: - - "21252116" - - text: Findings suggest strategies to target nucleolin as a general approach to inhibiting ErbB- and Ras-driven cancers. - pmids: - - "21257709" - - text: c-Raf plays a unique role in mediating K-Ras signaling in non-small cell lung carcinoma and makes it a suitable target for therapeutic intervention. - pmids: - - "21514245" - - text: "Amplification of the driving oncogene, KRAS or BRAF, underpins acquired resistance to MEK1/2 inhibitors in colorectal cancer cells." - pmids: - - "21447798" - - text: "K-ras gene mutation is a common event in Chinese colorectal cancer (CRC) patients, but may not be a prognostic factor in CRC , while BRAF is rarely mutated in Chinese CRC patients." - pmids: - - "21390154" - - text: NF-kappaB activation is a novel target of oncogenic KRAS in endometrial carcinogenesis - pmids: - - "21411444" - - text: mutation kit analysis identified a total rate of 44.8% mutations in patients with colorectal cancer; most mutations (82.4%) were identified within codon 12 and the minority on codon 13 - pmids: - - "21678640" - - text: KRAS-mutated non-small cell lung cancer cells are responsive to either co-treatment with erlotinib or gefitinib and histone deacetylase inhibitors or single treatment with lapatinib. - pmids: - - "21271222" - - text: Ubiquitination of K-Ras enhances activation and facilitates binding to select downstream effectors. - pmids: - - "21386094" - - text: "Allele-specific qPCR assays for the most frequent activating mutations in EGFR, KRAS, BRAF and PIK3CA in tumor-positive fine needle cytological aspirates were compared against histological material of primary tumors." - pmids: - - "21408138" - - text: autophagy is critically involved in malignant transformation by oncogenic K-Ras and show that reactive oxygen species-mediated JNK activation plays a causal role in autophagy induction through up-regulation of ATG5 and ATG7. - pmids: - - "21300795" - - text: 140/513 (27.3%) colorectal tumors wildtype for KRAS codons 12 and 13 harbored a mutation in another of the RAS pathway genes. - pmids: - - "21305640" - - text: study analyzed 90 samples of cutaneous T-cell lymphomas patients and found 2 KRAS (G13D) and 2 NRAS (Q61K) mutations - pmids: - - "21209378" - - text: "study demonstrates that chip-based TGCE is capable of rapidly screening low-abundance K-ras mutations with high sensitivity, reproducibility, simplicity, and significant savings of time and sample" - pmids: - - "21242956" - - text: these results suggest that a considerable proportion of NSCLC in Chinese population showed discrepancy in KRAS and EGFR mutation status between primary tumors and corresponding metastases. - pmids: - - "21414214" - - text: the role of Pim-1 in pancreatic ductal adenocarcinoma (PDAC) growth transformation and validate Pim-1 kinase as a potential molecular marker for mutated K-Ras activity. - pmids: - - "21262926" - - text: KRAS mutations in 23 adenosquamous carcinomas of lung - pmids: - - "21502435" - - text: findings indicate that somatic mutations in KRAS and PIK3CA but not BRAF oncogenes are closely associated with the development of cholangiocarcinoma in Chinese population - pmids: - - "21051183" - - text: K-ras mutations were involved in colorectal laterally-spreading tumors in different manners according to tumor location. - pmids: - - "21332555" - - text: The KRAS variant might be a genetic marker for development of triple-negative breast cancer in premenopausal women. - pmids: - - "21435948" - - text: Semiquantitative analysis of K-ras point mutation in endoscopically-collected pancreatic juice appears to be a useful tool for identifying chronic pancreatitis patients at high risk for developing pancreatic cancer. - pmids: - - "21510309" - - text: KRAS mutational analysis provides useful additional risk stratification to guide use of adjuvant chemotherapy in colorectal cancer. - pmids: - - "21383284" - - text: Suggest that most (but not all) commercial services provide analysis that is accurate and comparable with direct sequencing for KRAS mutations in colorectal neoplasms. - pmids: - - "20398393" - - text: PIK3CA mutations may have a role in KRAS and BRAF wild type colorectal cancer - pmids: - - "20571907" - - text: "HER2, but not EGFR gene amplification, is frequently observed in KRAS and BRAF wild type colorectal cancer patients" - pmids: - - "20563851" - - text: KRAS mutation is associated with anti-EGFR therapy response in colorectal cancer. - pmids: - - "20718705" - - text: Somatic mutations in K-ras and epigenetic alterations in SFRP2 genes play a role in development of mucinous type anal adenocarcinoma. - pmids: - - "20686305" - - text: We report 2 cases with Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation - pmids: - - "21063026" - - text: we demonstrate that somatic mutations in the related KRAS gene can also be associated with a nonmalignant syndrome of autoimmunity and breakdown of leukocyte homeostasis - pmids: - - "21079152" - - text: "Mutations in PIK3CA, KRAS and NRAS were exclusive to tumors of uterine origin and age-adjusted Cox proportional hazards modeling associated advanced age, stage and TP53 mutations with decreased survival in the uterine subset." - pmids: - - "21168197" - - text: Kras(G12D) allele promotes metastasis in pancreatic cancer cells partly through the downregulation of E-cadherin. - pmids: - - "21364589" - - text: Both primary tumours and liver metastases can be used for KRAS mutation analysis. - pmids: - - "21364579" - - text: "Data show that among 181 CRC patients, stratified by microsatellite instability status, DNA sequence changes were identified in KRAS (32%), BRAF (16%), PIK3CA (4%), PTEN (14%) and TP53 (51%)." - pmids: - - "21103049" - - text: Study suggests that concomitant expression of MMP-7 and IGF type 1 receptor correlates with poor prognosis in WT KRAS patients treated with anti-EGFR. - pmids: - - "21099348" - - text: KRAS mutation analysis helps to differentiate between pulmonary metastasis from colon adenocarcinoma in situ and primary lung adenocarcinoma - pmids: - - "21178719" - - text: Kras mutation plus increased copy number is associated with non-small cell lung cancer. - pmids: - - "21150464" - - text: "oncogenic Ras efficiently activates the ERK pathway both by activating Raf and by inhibiting MEK SUMOylation, thereby inducing carcinogenesis" - pmids: - - "21336309" - - text: KRAS mutations arise more frequently than BRAF mutations in Moroccan patients with colorectal carcinomas. - pmids: - - "21161938" - - text: KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways. - pmids: - - "21169357" - - text: Hepatocellular carcinoma with persistent hepatitis B virus infection shows unusual downregulation of Ras expression and differential response to Ras mediated signaling. - pmids: - - "21175807" - - text: "K-ras mutations appear more homogeneously distributed than methylation of p16 and MGMT and LOH at 18q, 17p, and 5q in colorectal cancer" - pmids: - - "21109984" - - text: Pyrosequencing provided sufficient analytical sensitivity and specificity to assess the KRAS mutation status in routine formalin-fixed CRC samples. - pmids: - - "21122130" - - text: "Results are the first to indicate that the KRAS 3'UTR polymorphism may predict for cetuximab responsiveness in KRASwt mCRC patients." - pmids: - - "20603437" - - text: "Mutations of EGFR, BRAF, and KRAS in adenocarcinoma were mutually exclusive and inversely correlated with RASSF1A methylation" - pmids: - - "21102258" - - text: study supports that mutations in the KRAS gene make at least a minor contribution to OSCC tumorigenesis - pmids: - - "20813562" - - text: Data show that KRAS mutation and PTEN protein expression are significantly correlated with the response rate and survival time of Chinese metastatic colorectal cancer patients treated with cetuximab. - pmids: - - "21155011" - - text: Mutated KRAS status in tumors of Japanese patients with metastatic colorectal cancer is associated with lack of response to panitumumab therapy - pmids: - - "21169348" - - text: Twenty paired specimens of colorectal cancer and adjacent normal tissues were examined for K-ras mutations and annexin A1 expression. - pmids: - - "21127395" - - text: Data show that KRAS mutation was detected in 201 tumours (39.4%). - pmids: - - "19453520" - - text: 18/19 (94.7%) metastatic colorectal cancer smears were perfectly adequate for codon 12 and 13 KRAS mutational analysis by direct gene sequencing. - pmids: - - "20049979" - - text: Multiple cellular proteins control the dynamics of membrane association and intercompartmental movement of K-ras to an important degree even under basal cellular conditions. - pmids: - - "21081081" - - text: There was an incremental increase in KRAS mutation frequency with increasing villous compartment of colorectal neoplasms. - pmids: - - "21263241" - - text: The KRAS mutation is a negative predictive factor for survival in patients rectal and colon cancer. - pmids: - - "20959826" - - text: "Compared with wild-type KRAS colorectal cancers, KRAS-mutated CRCs had a lower frequency of high microsatellite instabilities, a higher chance of having brisk mitosis and apoptosis, and a greater mean of mitotic figures and apoptotic cells" - pmids: - - "21228365" - - text: "review focused on KRAS gene mutations with special reference to lung cancers, and pointed out important issues remaining to be resolved [review]" - pmids: - - "20846262" - - text: "K-ras exon 1 gene mutations were found with low frequency in the bladder cancer tumors from Kashmir valley, which suggests that K-ras gene might be involved in a sub-set of bladder tumors." - pmids: - - "20845292" - - text: Report on the clinical utility of reflex testing of resected stage I through III lung adenocarcinomas for EGFR and KRAS mutatations. - pmids: - - "20933246" - - text: "Data show that FcgammaRIIa and FcgammaRIIIa polymorphisms are not useful as molecular markers for outcome in mCRC patients, and KRAS status and skin toxicity are the only reliable biomarkers to identify patients that would benefit from anti-EGFR therapy." - pmids: - - "20550522" - - text: KRAS signaling pathway alterations in microsatellite unstable gastrointestinal cancers. - pmids: - - "21070916" - - text: "KRAS and RREB1 are targets of miR-143/miR-145, revealing a feed-forward mechanism that potentiates Ras signaling" - pmids: - - "21159816" - - text: "Mutations in KRAS and BRAF genes are not directly implicated in the development of a MELF (macrocystic, elongated, and fragmented) pattern of invasion in endometrial carcinoma." - pmids: - - "20591910" - - text: Kras gene mutation and copy number is associated with thymic carcinomas and thymomas. - pmids: - - "20871271" - - text: KRAS mutation is associated with lung cancer. - pmids: - - "20871266" - - text: "40 KRAS wild-type, 40 codon 12-mutated and 32 codon-13 mutated samples were analysed by Ampli-set-K-RAS and K-RAS StripAssay kit." - pmids: - - "21187522" - - text: "In a group of clinically selected patients, EGFR and KRAS analysis was able to define distinct molecular subsets of lung adenocarcinoma." - pmids: - - "21187500" - - text: Sixty-nine per cent of endocervical-like mucinous borderline tumour of the ovary showed KRAS mutations - pmids: - - "20955384" - - text: "The amplification-refractory mutation system with formalin-fixed, paraffin-embedded specimen-derived DNA samples of the human KRAS protein exhibited an acceptable feasibility and robustness suitable for routine clinical practice." - pmids: - - "20696815" - - text: "data provide evidence that c-Kit, p53 codon 72, and K-ras codon 12 are independent prognostic factors in patients with stage II colorectal cancer" - pmids: - - "20652953" - - text: The meta-analysis strongly suggests that KRAS mutations represent adverse predictive and prognostic biomarkers for tumour response and survival in mCRC patients treated with cetuximab. - pmids: - - "20580219" - - text: Data reveal that HIF-1alpha and HIF-2alpha work together to modulate cancer metabolism and regulate genes signature overlapping with oncogenic KRAS. - pmids: - - "21073737" - - text: "Using traditional PCR and direct sequencing, we found KRAS mutations in 47 (40%) patients and BRAF(V600E) in 10 (8.5%)" - pmids: - - "20616366" - - text: "presence of activating KRAS mutations is significantly correlated to an upregulation of 13 genes (adjusted P-value <0.05), among them DUSP4, a MAP-kinase phosphatase, and SMYD3, a histone methyltransferase" - pmids: - - "20725992" - - text: Genetic alterations of K-ras may reflect prognosis in stage III colon cancer patients below 60 years of age. - pmids: - - "21031422" - - text: "KRAS mutations are a predictor of resistance to panitumumab or cetuximab.Studies of patients receiving treatment show that tumors carrying KRAS mutations don't respond to EGFR-targeted monoclonal antibodies or show survival benefit from such treatments." - pmids: - - "21129611" - - text: KRAS gene mutations are widely recognized alterations involved in biology and the clinical management of lung adenocarcinoma.This review reports the molecular bases that have led clinical application of detection for such genetic impairments. - pmids: - - "21129606" - - text: "This review focuses on current knowledge regarding the molecular landscape of metastatic colorectal cancer including and beyond KRAS, and will summarize novel rationally-developed combinatorial regimens that are being evaluated in early clinical trials." - pmids: - - "21129603" - - text: data show that EGFR gene copy number and KRAS mutation status are neither predictive nor prognostic factors for pathological tumour response and disease-free survival in locally advanced rectal cancer patients treated with preoperative chemoradiation - pmids: - - "20842128" - - text: Expression level of EGFR protein and mutation frequency of KRAS gene in primary tumors were higher than that in metastases. - pmids: - - "20840818" - - text: "K-ras mutation targeted to gastric tissue progenitor cells results in chronic inflammation, an altered microenvironment, and progression to intraepithelial neoplasia." - pmids: - - "20959488" - - text: KRASG12D is associated with pancreatic cancer. - pmids: - - "20959479" - - text: a natural history for hyperdiploid leukemia in which prenatal mitotic catastrophe is followed by a postnatal KRAS mutation to produce the leukemic cell phenotype. - pmids: - - "20688547" - - text: KRAS mutations were solely and significantly linked to ERK activation in lung adenocarcinoma. - pmids: - - "20117855" - - text: "Over expression of pro apoptotic markers: p27KIP1 and KRAS4A isoforms was significantly higher in CRC subset with TRAIL-R1 and TRAIL-R2 expression" - pmids: - - "20673328" - - text: Results reveal an unexpected role for WT1 as a key regulator of the genetic network of oncogenic KRAS and provide important insight into the mechanisms that regulate proliferation or senescence in response to oncogenic signals. - pmids: - - "20972333" - - text: "EML4-ALK fusion gene was present at a high frequency in Chinese NSCLC patients, particularly in those with adenocarcinomas lacking EGFR/KRAS mutations" - pmids: - - "20624322" - - text: REsults show a high concordance in the KRAS status between the primary tumour and metastases. - pmids: - - "21036746" - - text: KRAS mutation-positive lung cancer displaying high levels of Myc could be treated by inhibiting Myc transactivation function. - pmids: - - "21036740" - - text: "Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)" - pmids: - - "20949557" - - text: Meta-analysis of gene-disease association. (HuGE Navigator) - pmids: - - "20840818" - - text: Noonan syndrome and systemic lupus erythematosus is reported in a patient with a novel KRAS mutation. - pmids: - - "20810036" - - text: KRAS gene mutations are associated with lung adenocarcinomas with features of the mucinous subtype of bronchioloalveolar carcinoma. - pmids: - - "20661086" - - text: Wild-type K-Ras.GTP in association with Gal-3 contributes to thyroid carcinoma malignancy. - pmids: - - "20682656" - - text: The formalin-fixed and paraffin-embedded samples from 60 patients with colorectal cancer were tested and 19 mutations were detected in KRAS gene. - pmids: - - "20482381" - - text: analysis of KRAS mutations in Slovene patients with colorectal cancer - pmids: - - "20372787" - - text: KRAS gene mutations are associated with non-small cell lung cancer. - pmids: - - "20559151" - - text: KRAS mutations are associated with lung adenocarcinomas. - pmids: - - "20559149" - - text: Findings support the hypothesis that the KRAS-variant is a genetic marker for increased risk of developing OC and suggest that the KRAS-variant may be a new genetic marker of cancer risk for HBOC families without other known genetic abnormalities. - pmids: - - "20647319" - - text: "phosphoinositide 3-kinase and RAS-RAF pathways drive the activity of RAF265, a novel RAF/VEGFR2 inhibitor, and RAD001 (Everolimus) in combination" - pmids: - - "20124452" - - text: frequently downregulated miR-217 can regulate KRAS and function as a tumor suppressor in pancreatic ductal adenocarcinoma (PDAC). - pmids: - - "20675343" - - text: Specific KRAS mutation is an informative prognostic factor in both sporadic and hereditary CRC and applied in an algorithm with BRAF(V600E) and MSI may identify sporadic CRC patients with poor clinical outcome. - pmids: - - "20162668" - - text: "Only a single gene alteration, of uncertain role, was found in the KRAS gene in an Noonan syndrome patient also presenting a PTPN11 gene mutation." - pmids: - - "20578946" - - text: "although the PAK4 gene is not activated by mutation in cell lines with gene amplification, an oncogenic form of the KRAS2 gene is present in these cells and oncogenic KRAS2 can activate PAK4" - pmids: - - "18836286" - - text: "Results suggest that RAGE, NOX, and H-Ras/Raf-1 are implicated in the up-regulation of HSF1 or PAI-1 in vascular EC under diabetes-associated metabolic stress." - pmids: - - "20630999" - - text: Clinical relevance of KRAS in human cancers. - pmids: - - "20617134" - - text: "In KRAS mutant tumors, PIK3CA mutation restores cyclin D1 expression and G(1)-S cell cycle progression so that they are no longer dependent on KRAS and MEK/ERK signaling." - pmids: - - "20699365" - - text: "Several studies have demonstrated the absence of objective response in patients treated with irinotecan-cetuximab after failure of irinotecan, when the tumour presents a KRAS mutation." - pmids: - - "19702696" - - text: "biological, biochemical and prognostic significance of Ras pathway alterations in colorectal and other solid tumor malignancies; mutations in exon 4 of KRAS were found to occur commonly and to predict a more favorable clinical outcome in colorectal cancer" - pmids: - - "20570890" - - text: "Our study indicates for the first time, that oncogenic ras and loss of Smad signaling cooperate to upregulate EGFR and erbB2, which plays a role in promoting invasion." - pmids: - - "20473902" - - text: "Of the 750 cases of rectal cancer with tumor mutation information, 28.9% had a KRAS2 mutation, and 48.3% had a TP53 mutation. The majority of both KRAS2 and TP53 mutations were transitions." - pmids: - - "20628283" - - text: "K-ras mutation in blood appears to indicate K-ras mutation in tumour, while the absence of blood K-ras mutation does not prove lack of mutation in the tumour." - pmids: - - "20683036" - - text: "Investigated the methylation of the SFRP2, P16, DAPK1, HIC1, and MGMT genes, as well as the mutation of amino acid codons 12 and 13 of the KRAS gene in normal and tumor tissue DNA of patients diagnosed with sporadic colorectal cancer." - pmids: - - "20682398" - - text: "if KRAS is not mutated, assessing BRAF, NRAS, and PIK3CA exon 20 mutations (in that order) gives additional information about the efficacy of cetuximab plus chemotherapy in metastatic colorectal cancer." - pmids: - - "20619739" - - text: activation of K-ras did not depend upon EGFR and resulted in the phosphorylation of Akt and induction of VEGF expression - pmids: - - "20532039" - - text: Findings identify miR-96 as a potent regulator of KRAS in pancreatic cancer. - pmids: - - "20610624" - - text: "The frequency of K-RAS gene mutations with non-small cell lung cancer in our center is very low and is similar to that in Asia patients, and is lower than that in Caucasian population." - pmids: - - "20681447" - - text: "Screening for BRAF, RET, KRAS, NRAS, and HRAS mutations, as well as RET-PTC1 and RET-PTC3 rearrangements, was performed on cases of Hashimoto thyroiditis with a dominant nodule" - pmids: - - "20012784" - - text: Only one mutation in the K-RAS gene was identified in tonsil squamous cell carcinoma cohorts. - pmids: - - "20459770" - - text: High resolution melting is a reliable screening method to identify mutations in the KRAS gene in colorectal cancer. - pmids: - - "20575464" - - text: Observed a significant association of SMAD4 gene aberrations with KRAS mutant status suggesting the involvement of at least two molecules in the advanced tumor grade in colorectal cancers in a Kashmiri population. - pmids: - - "20565773" - - text: KRAS mutations are very infrequent in triple-negative breast tumors. - pmids: - - "20385028" - - text: K-ras mutations did not have any significant effect on Sorafenib treated patients with advanced non-small cell lung cancer. - pmids: - - "20421765" - - text: PCR is practically applicable to KRAS/BRAF genotyping using small amounts of biopsied colorectal tumor cells. - pmids: - - "20627194" - - text: KRAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant. - pmids: - - "20371679" - - text: Mutations in KRAS is associated with lung adenocarcinoma. - pmids: - - "20150826" - - text: assessment of KRAS mutations in juvenile myelomonocytic leukaemia - pmids: - - "19874312" - - text: Our results showed significant number of EGFR FISH positive/amplified lung adenocarcinomas harboring KRAS mutation - pmids: - - "20381121" - - text: KRAS mutations only in metastases is not associated with resistance to anti-EGFR treatment in primary colorectal tumors. - pmids: - - "20049644" - - text: assessment of K-ras gene expression changes in the development of the HPV positive cervical cancers; findings indicate high expression of ras among high risk HPV infection can be a marker of cervical cancer development - pmids: - - "20583472" - - text: analysis of EGFR and KRAS mutations in non-small cell lung cancer (NSCLC) patients treated with tyrosine kinase inhibitors - pmids: - - "20592359" - - text: frequency of KRAS and p53-Ab correlates with tumor stage only in the Type I endometrial carcinoma - pmids: - - "19960433" - - text: "Mutations in TP53, KRAS, or EGFR are not major contributors to the RCC development even in the absence of VHL inactivation." - pmids: - - "20137853" - - text: "In line with a redirection of autocrine toward paracrine HH signaling by a KRAS-DYRK1B network, we find high levels of GLI1 expression restricted to the stromal compartment and not to SHH-expressing tumor cells in pancreatic adenocarcinoma." - pmids: - - "20512148" - - text: KRAS mutation is associated with resistance to EGFR-I therapy in colon cancer. - pmids: - - "19936839" - - text: Mutation in KRAS reduces the effectiveness of Cetuximab combined with chemotherapy in advanced colorectal cancer patients. - pmids: - - "19921572" - - text: "data support the model of BRAF and K-ras mutations arising in distinct colorectal cancer subsets associated with different clinicopathological and dietary factors, acting as mutually exclusive mechanisms of activation of the same signalling pathway" - pmids: - - "20233436" - - text: KRAS mutations are associated with relapsed childhood high hyperdiploid acute lymphoblastic leukemia. - pmids: - - "20237506" - - text: The high number of KRAS mutations in codons 61 and 146 emphasizes the importance to expand current mutation analyses - pmids: - - "19913317" - - text: "developed two multiplex assays that simultaneously screen 22 nucleotides in the KRAS, NRAS, BRAF and PIK3CA genes for mutations. The assays were validated on 294 tumor DNA samples from patients with advanced colorectal cancer" - pmids: - - "20098682" - - text: Matrix-assisted laser desorption ionization remains a potent and highly clinically significant predictor of survival after first-line treatment with erlotinib in non-smll-cell lung patients with wild-type EGFR and independent of mutations in KRAS. - pmids: - - "20035238" - - text: KRAS mutations in traditional serrated adenomas from Korea herald an aggressive phenotype. - pmids: - - "20305537" - - text: Tumors from A/J and cBy mice displayed different Kras mutations that were remarkably similar to the variations in mutation spectrum reported in smokers and never smokers. - pmids: - - "20101149" - - text: KRAS mutation correlates with accelerated metastatic progression in patients with colorectal liver metastases. - pmids: - - "19727962" - - text: KRAS mutation and microsatellite instability are associated with colorectal cancer. - pmids: - - "19813061" - - text: "whereas H-Ras and N-Ras were unable to localize to the plasma membrane in the presence of USP17, K-Ras4b localization was unaffected" - pmids: - - "20147298" - - text: "EGFR and KRAS mutations were found in 33 (10%) and 78 (23%) of lung adenocarcinomas, respectively, whereas 226 (67%) cases were negative for both mutations" - pmids: - - "19855375" - - text: analysis of KRAS mutation in tumor samples by PCR and sequence analysis - pmids: - - "19888477" - - text: "existing evidence on the relationship between K-ras mutations and tobacco smoking in adenocarcinomas of the pancreas, colorectum and lung [review]" - pmids: - - "19651236" - - text: "K-RAS codon 12 GAT mutation is present at measurable levels in normal appearing mucosa. All tumors carried K-RAS mutation, in most cases as a mutant subpopulation." - pmids: - - "20307197" - - text: "incidence of KRAS mutation; KRAS splice variants: KRAS4A & KRAS4B in colorectal cancer(CRC); results highlight role of KRAS isoforms in CRC, their utility as a prognostic biomarker & importance of KRAS alterations as a potential therapeutic target" - pmids: - - "19824059" - - text: "KRAS mutation testing, preferably at diagnosis, must now be considered a new standard of care for patients with metastatic colorectal cancer being considered for EGFR-targeting" - pmids: - - "20100685" - - text: "Our study suggests that mutations of KRAS, not BRAF, may play a role in the pathogenesis of prostate carcinoma in Chinese patients." - pmids: - - "20303012" - - text: "VEGFR1, VEGFR2, and PDGFRalpha are over-expressed in K-ras mutated colorectal adenocarcinoma." - pmids: - - "19936766" - - text: In this study the presence of mutations at codon 12 of the KRAS gene in 78 women with ovarian tumor were studied to see if there was a link. - pmids: - - "19995707" - - text: LIN28B plays an important role in radiation responses of lung cancer cells through inhibiting let-7g microRNA processing and increasing translation of KRAS. - pmids: - - "19745602" - - text: These results suggest a role for KRAS mutations in the propensity of primary colorectal tumors to metastasize to the lung. - pmids: - - "20020061" - - text: The study suggests that activating KRAS mutants is a particularly important independent predictive marker in metastatic colorectal cancer patients treated with cetuximab - pmids: - - "20010090" - - text: Study identified the previously reported pathogenic mutation of NTRK3 in a KRAS/BRAF wild-type tumor and 2 somatic mutations in the Src family of kinases (YES1 and LYN) that would be expected to cause structural changes. - pmids: - - "19893451" - - text: Data show that NF-kappaB functions downstream of Ras to promote epigenetic downregulation of FBP1. - pmids: - - "19881551" - - text: Data show that the presence of a K-ras mutation (13.3%) was not associated with either PFS or OS. - pmids: - - "19629485" - - text: EGFR/KRAS mutation testing of multiple lung adenocarcinomas can assist in differentiating multiple primary lung adenocarcinomas from metastatic lesions. - pmids: - - "19376842" - - text: organochlorine compounds and coffee may have independent roles in the aetiopathogenesis of pancreatic ductal adenocarcinoma through modulation of KRAS activation - pmids: - - "19797353" - - text: "In colorectal neoplasms a mutation frequency of 40% and a cluster of three mutation types (p.G12D, pG12V, and p.G13D) in primaries and metastases can be defined as benchmarks for routine KRAS analyses." - pmids: - - "19679400" - - text: "High-throughput copy number and gene expression data of 36 microsatellite stable sporadic colon cancers resected from patients of a single institution characterized for mutations in APC, KRAS, TP53 and loss of 18q were analyzed." - pmids: - - "19672874" - - text: "Studies provide models for Ras in association with Raf kinase, RalGDS and PI3Kalpha and PI3Kgamma." - pmids: - - "19801192" - - text: "Investigated the prevalence of PTPN11, HRAS, KRAS, NRAS, BRAF, MEK1, and MEK2 mutations in a relatively large cohort of primary embryonal Rhabdomyosarcoma (RMS) tumors. HRAS and KRAS were found to be rarely mutated." - pmids: - - "19681119" - - text: Molecular studies showed 3 (20%) of 15 oncocytic adenocarcinomas of lung with EGFR mutations and 3 additional cases with KRAS mutations. - pmids: - - "20023269" - - text: "Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "19956635" - - text: BRAF and KRAS oncogenes have different transforming capability in colon cancer - pmids: - - "19881948" - - text: No difference in outcome was seen between patients harboring KRAS transition versus transversion mutations in non-small cell lung cancer. - pmids: - - "19671843" - - text: study of KRAS/BRAF mutation status in a large and well-documented cohort of primary and metastatic renal cell carcinoma - pmids: - - "19282104" - - text: "BRAF status, EGFR amplification, and cytoplasmic expression of PTEN were associated with outcome measures in KRAS wild-type patients treated with a cetuximab-based regimen." - pmids: - - "19884556" - - text: KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan. - pmids: - - "19884549" - - text: EGFR and KRAS status of primary lung carcinomas may not predict the status in the corresponding metastases. - pmids: - - "19740513" - - text: Suppression of TBK1 induced apoptosis specifically in human cancer cell lines that depend on oncogenic KRAS expression - pmids: - - "19847166" - - text: mutations are associated with post-operative recurrence of lung adenocarcinomas - pmids: - - "19162366" - - text: overexpressed wild-type KRAS has a role in downstream signaling and cancer cell growth - pmids: - - "19545448" - - text: "k-ras mutations are associated with advanced pancreatic carcinoma in response to combined gefitinib, paclitaxel, and 3-dimensional conformal radiation treatment." - pmids: - - "19307945" - - text: KRAS mutations are associated with non-small cell lung cancers. - pmids: - - "19787214" - - text: "Alterations in TP53, APC, K-ras, and DCC genes in the non-dysplastic ulcerative colitis and Crohn's disease colon, were analyzed." - pmids: - - "19543899" - - text: KRAS mutations correlate with expression of DCN and TPM1 in colorectal cancer. - pmids: - - "19678923" - - text: "Oncogenic KRAS and BRAF differentially regulate hypoxia-inducible factor-1alpha and -2alpha in colon cancer , and this may potentially contribute to the phenotypic differences of KRAS and BRAF mutations in colon tumors." - pmids: - - "19843849" - - text: KRAS mutations affect tumor necrosis factor-induced apoptosis in colon carcinoma cells via ERK-modulatory negative and positive feedback circuits along with non-ERK pathway effects. - pmids: - - "19789336" - - text: K-RAS mutations were more frequent in males and were associated with smoking habits in 411 lung adenocarcinomas - pmids: - - "19724844" - - text: KRAS mutations are associated with colorectal neoplasms. - pmids: - - "19521964" - - text: RAS and CSF3R mutations in severe congenital neutropenia. - pmids: - - "19833857" - - text: "oncogenic properties of KRAS and BRAF but not NRAS, HRAS, and PIK3CA contribute to the tumorigenesis of periampullary and ampullary tumors" - pmids: - - "19440799" - - text: KRAS mutation is associated with sarcomatoid carcinomas of the lung. - pmids: - - "19681124" - - text: Mutations in KRAS protein is associated with Colorectal Carcinoma. - pmids: - - "19679059" - - text: "Detection of KRAS mutational status in CTCs, by gene expression array, has potential for clinical application in selecting metastatic colorectal cancer patients most likely to benefit from cetuximab therapy." - pmids: - - "19549774" - - text: In all cases of our series of patients with squamous cell anal carcinoma wild-type K-ras was observed. - pmids: - - "19727729" - - text: "Results suggest that the mutations of EGFR, KRAS, BRAF between primary tumors and corresponding lymph node metastases should be considered whenever mutations are used for the selection of patients for EGFR-directed tyrosine kinase inhibitor therapy." - pmids: - - "19584155" - - text: "a sizable subgroup of non-small cell lung carcinomas harbor KRAS amplification, some of which also contain point mutations, and suggest that an increased KRAS copy number may drive p21 overexpression." - pmids: - - "19762526" - - text: study of colorectal cancer cell lines that differed only in the mutational status of their KRAS or BRAF genes; data suggest that glucose deprivation can drive acquisition of KRAS pathway mutations in tumors - pmids: - - "19661383" - - text: "Data demonstrate that the hypervariable region of K-Ras4B contributes in a major way to the interaction with calmodulin, while the catalytic domain of K-Ras4B provides a way to control the interaction by nucleotide binding." - pmids: - - "19583261" - - text: data confirm that KRAS and BRAF mutations do occur in the same cell and that BRAF V600E mutation is associated with CIMP+ status. - pmids: - - "19474002" - - text: KRAS mutation may only be involved in carcinogenesis of partial gastric cancers and the different mutation types of KRAS may take part in development of gastric cancer at different stages. - pmids: - - "19639197" - - text: strong inter-relation between DR4 AND DR5 overexpression and presence of oncogenic KRAS/ BRAF mutations in colon cancer. - pmids: - - "19637313" - - text: Mutation pattern of K-ras gene is associated with colorectal cancer. - pmids: - - "19574674" - - text: Observational study of gene-disease association and DATA ERROR. (HuGE Navigator) - pmids: - - "19669908" - - text: Assessing KRAS and BRAF mutations might help optimising the selection of the candidate metastatic colorectal cancer patients to receive anti-EGFR moAbs. - pmids: - - "19603018" - - text: "Mutations in KRAS were found in 30% patients in the low-grade carcinoma group, however, they were not found in the high-grade carcinoma group. KRAS and BRAF mutations were mutually exclusive, and both mutations were observed in 40%." - pmids: - - "19430562" - - text: "Review: KRAS mutation testing in colorectal cancer." - pmids: - - "19546608" - - text: "EGFR-targeting monoclonal antibodies such as cetuximab or panitumumab are ineffective in patients with activating mutations in KRAS.[review]" - pmids: - - "19390304" - - text: "MGMT hypermethylation is associated with G:C > A:T mutations in KRAS, but not in APC, suggesting that MGMT hypermethylation may succeed APC mutations but precedes KRAS mutations in colorectal carcinogenesis." - pmids: - - "19164452" - - text: KRAS mutation was associated with lack of response (P=0.002) and shorter progress free survival (P=0.09) in patients with metastatic colorectal cancer. - pmids: - - "19603024" - - text: "Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "20855820" - - "20702788" - - "20603437" - - "20530271" - - "20418097" - - "20395213" - - "20068568" - - "20038723" - - "19934290" - - "19884549" - - "19672255" - - "19671843" - - "19549707" - - text: "study reports on the occurrence of premature closure of cranial sutures in subjects with Noonan syndrome, and their specific association with mutations in the KRAS gene" - pmids: - - "19396835" - - text: Ki-ras mutations (Table 3) showed that rectal tumors were more likely to have mutations in Codons 12 and 13 than either proximal or distal colon tumors - pmids: - - "19571709" - - text: We found KRAS2 gene mutations at codon 12 in all eight cases of Adenosquamous carcinoma of the pancreas - pmids: - - "19270646" - - text: quercetin and luteolin significantly decreased ERK phosphorylation - pmids: - - "19344998" - - text: Mutation in KRAS is associated with adrenocortical carcinomas. - pmids: - - "19190079" - - text: hnRNP A1/Up1 completely abrogates the cooperative quadruplex-to-ssDNA transition that characterizes the KRAS quadruplex and facilitates the association between the quadruplex and its complementary polypyrimidine strand. - pmids: - - "19282454" - - text: "KRAS mutation is a relatively common event in endometrial carcinogenesis, but with no prognostic value." - pmids: - - "19419940" - - text: "Codons 12 & 13 of K-ras were mutated in 23.33% of patients. 28.57% were at codon 12, 57.14% were at codon 13, & 14.29% at both. They were more frequent in tumors in the left hemicolon and in well-differentiated adenocarcinomas & mucinous carcinomas." - pmids: - - "19418727" - - text: "miR-18a* may function as a tumor suppressor by targeting on K-Ras. Therefore, the miRNA may also be a potential therapeutic agent or target for cancer therapy." - pmids: - - "19372139" - - text: "p21(Ras)-mediated survival signaling is regulated by via a PI(3)K-AKT pathway, which is dependent upon both PDK1 and PKCdelta, and PDK1 activates and regulates PKCdelta to determine the fate of cells containing a mutated, activated p21(Ras)." - pmids: - - "19146951" - - text: cases with the KRAS-LCS6 variant have significantly reduced survival time and suggest that this variant may alter the phenotype or therapeutic response of this disease. - pmids: - - "19380522" - - text: KRAS mutations were found in 60 (15%) samples with 58 ovarian samples deriving from malignant tissue and 2 samples deriving from benign tissue. - pmids: - - "19358724" - - text: These findings point to a previously underappreciated role of Ras in mitotic progression and demonstrate that mitotic stress induced by the Ras oncogene. - pmids: - - "19490893" - - text: Observational study of gene-disease association and genetic testing. (HuGE Navigator) - pmids: - - "20959826" - - "19478384" - - text: "In this review, we summarize the initial discovery of RAS mutations in NSCLC, describe work exploring associations with clinical factors and outcomes, and provide an overview of current approaches to targeting KRAS mutant NSCLC." - pmids: - - "19349489" - - text: KRAS mutational analyses could help to identify a subgroup of patients with metastatic colorectal neoplasms who have higher chances of benefiting from EGFR inhibition. - pmids: - - "19398573" - - text: Report the importance of KRAS mutations and EGF61A>G polymorphism to the effect of cetuximab and irinotecan in metastatic colorectal cancer. - pmids: - - "19179548" - - text: "Our data provide evidence that PIK3CA and BRAF contribute to the tumorigenesis of IPMN/IPMC, but at a lower frequency than KRAS." - pmids: - - "18343945" - - text: activation of PIK3CA may be an important molecular event contributing to the maintenance of OSE transformation initiated by oncogenes such as K-ras - pmids: - - "19172191" - - text: Several key studies have demonstrated that patients with mutant KRAS do not respond to treatment with epidermal growth factor inhibitors. This finding has several implications for clinicians who treat patients with metastatic colorectal cancer. - pmids: - - "19378369" - - text: mutation in KRAS were associated with increased resistance to gefitinib in lung cancer cell lines - pmids: - - "19238210" - - text: "Mutations of KRAS were present in 9.6% (9 of 94) of the samples: eight in codon 12 and one in codon 13. EGFR mutations were never found in tumors with KRAS mutations, suggesting a mutually exclusive relationship." - pmids: - - "19270482" - - text: "The frequency of KRAS mutations in the melanocytic aggregate (five of 18, 28%) was second to BRAF V600E, while in melanoma, the frequency was also second to BRAF V600E" - pmids: - - "18945298" - - text: The benefit of cetuximab was limited to patients with KRAS wild-type tumors. - pmids: - - "19339720" - - text: The genes involving MSI-L carcinogenesis are similar to MSS but the timing and frequency of the KRAS mutation is different. - pmids: - - "19147861" - - text: presence of the KRAS G12V mutation in the cells escaping apoptosis and inducing angiogenesis via IL8 may confer a more aggressive phenotype - pmids: - - "19087308" - - text: Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. - pmids: - - "19190129" - - text: There was no significant predictive value for therapeutic response of K-ras mutations for advanced non-small cell lung cancer. - pmids: - - "19281127" - - text: to find kRAS mutations in bladder tumor samples - pmids: - - "19101897" - - text: "apart from K-ras codons 12/13 point mutations, overexpression of the ras family genes is important in the development of colorectal cancer but it appears not to be predictive of survival." - pmids: - - "18386236" - - text: "Mutational activation of the K-ras gene, HPV infection and tobacco or alcohol abuse, can be considered independently or in combination as high risk factors for esophageal squamous cell carcinoma development." - pmids: - - "18592405" - - text: Overexpression and mutations of Kras lead to common altered gene expression patterns in NIH3T3 cell. - pmids: - - "19190631" - - text: miR-143 is significant in suppressing colorectal cancer cell growth through inhibition of KRAS translation. - pmids: - - "19137007" - - text: "Evidence from several randomized studies has established that advanced colorectal tumors harboring a mutation in the KRAS gene do not respond to epidermal growth factor receptor-directed monoclonal antibodies, such as cetuximab or panitumumab." - pmids: - - "19124802" - - text: Allelic loss on 12p12-13 region would influence the KRAS2 expression by reducing the gene-dosage in colon carcinogenesis. - pmids: - - "16331576" - - text: KRAS mutations and PI3KCA/PTEN deregulation significantly correlate with resistance to cetuximab. - pmids: - - "18669866" - - text: KRAS2 mutations in human pancreatic acinar-ductal metaplastic lesions are limited to those with pancreatic intraepithelial neoplasia. - pmids: - - "19208745" - - text: KRAS mutations were associated with lower response rate to cetuximab plus irinotecan in colorectal cancer patients(4% v 27% in nonmutated patients; P = .021) and shorter PFS (3.0 v 5.3 months; P = .021). - pmids: - - "19164213" - - text: genetic alterations of KRAS and PIK3CA may play equivalent roles in endometrial carcinogenesis - pmids: - - "18221484" - - text: "The digital melt curve assay detected 16 (59%) of 27 advanced adenoma samples that contained KRAS mutations, compared with 7% with the Hemoccult, 15% with the HemoccultSensa, and 26% with the PreGenPlus assays." - pmids: - - "19026650" - - text: oncogenic KRAS could cause the accumulation of phosphatidylinositides and modulate the cell shape and migration. - pmids: - - "19121089" - - text: "p53 mutation is an initiating mutation in the majority of colitis-associated neoplasia, and K-RAS activation is an alternative gatekeeping mutation." - pmids: - - "19103203" - - text: KRAS mutations or TP53 mutations are associated with lung adenocarcinoma. - pmids: - - "19096302" - - text: "KRAS, and CMET mutations are associated with advanced non-small cell lung cancer." - pmids: - - "19096301" - - text: Hereditary pancreatitis patients with PRSS1 mutations also had mutations in BRAF and KRAS2. - pmids: - - "18946221" - - text: KRAS mutations in either primary or metastatic tumors from patients with colorectal cancer is concordant. - pmids: - - "19056857" - - text: Mutations in the KRAS are associated with Noonan syndrome. - pmids: - - "19020799" - - text: "Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "19367287" - - "19164213" - - text: may be involved with imatinib resistance in chronic myeloid leukemia - pmids: - - "18509354" - - text: The prevalence of mutant KRAS2 is similar in familial pancreatic adenocarcinoma as in sporadic pancreatic adenocarcinomas. - pmids: - - "19064568" - - text: Report genetic alterations of K-ras in Korean colorectal cancer patients. - pmids: - - "17704924" - - text: ovarian cancer patients with KRAS or BRAF mutations may benefit from CI-1040 treatment - pmids: - - "19018267" - - text: the presence of mutations in the KRAS oncogene can be used to predict which patients are unlikely to benefit from treatment with epidermal growth factor receptor-directed therapy. - pmids: - - "19013894" - - text: Smoking and diabetes were associated with pancreatic cancer patients positive for K-ras codon 12 mutations - pmids: - - "18049799" - - text: "Before panitumumad administration KRAS oncogene must be analysed to determine \"continuous activation\" or wild type gene is involved." - pmids: - - "18431556" - - text: "All of the KRAS-mutant Microsatellite instability (MSI)-H (high) tumors harbored sequence alterations MLH1, which implies that KRAS mutation more frequently and almost exclusively occurs in DNA mismatch repair gene-mutant MSI-H tumors." - pmids: - - "18692554" - - text: The incidence of K-ras mutation may be associated with the hypersecretion of mucin in IPMN patients. - pmids: - - "18392710" - - text: Kras may uniquely contribute to the initiation of tumors in endodermally-derived tissues by expanding a stem/progenitor cell population - pmids: - - "18418066" - - text: KRAS mutation is related with a random CpG island methylation pattern which may lead to CpG island methylator phenotype in colorectal cancer . - pmids: - - "19002263" - - text: "Patients with a colorectal tumor bearing mutated K-ras did not benefit from cetuximab, whereas patients with a tumor bearing wild-type K-ras did benefit from cetuximab." - pmids: - - "18946061" - - text: The LCS6 variant allele in a KRAS miRANA complementary site is significantly associated with increased risk for NSCLC among moderate smokers. - pmids: - - "18922928" - - text: "With at least 3 markers methylated, new CIMP-positive colorectal cancers were closely associated with proximal tumor location, low frequency of KRAS mutation, and high frequency of BRAF mutation." - pmids: - - "18834226" - - text: All K-ras positive patients revealed a poor survival prognosis and had a tumor relapse after resection. - pmids: - - "18833187" - - text: K-RasG12D-induced T-cell lymphoblastic lymphoma/leukemias harbor Notch1 mutations - pmids: - - "18663146" - - text: "BRAF, KRAS and PIK3CA mutations occur prior to malignant transformation demonstrating that these oncogenic alterations are primary genetic events in colorectal carcinogenesis" - pmids: - - "18782444" - - text: Observational study of genetic testing. (HuGE Navigator) - pmids: - - "20848649" - - "20712532" - - "20703476" - - "20696815" - - "20683036" - - "20398393" - - "20098682" - - "19815694" - - "19640859" - - "19309232" - - "19026650" - - "18832461" - - text: Bayesian network analysis of these and other datasets revealed that PTRF might be a potentially important component of the ERBB signaling network - pmids: - - "18776048" - - text: Mutation in KRAS is associated with childhood acute lymphoblastic leukemia - pmids: - - "18701506" - - text: "Meta-analysis of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "20978259" - - "20580219" - - "20309588" - - "20022659" - - "18804418" - - text: "Observational study of gene-disease association, gene-environment interaction, pharmacogenomic / toxicogenomic, and genetic testing. (HuGE Navigator)" - pmids: - - "18794099" - - text: KRAS and BRAF mutations can impair response to anti-EGFR therapy for colorectal neoplasms - pmids: - - "18757341" - - text: RAS signaling network is extensively dysregulated in colorectal carcinomas. - pmids: - - "18592002" - - text: both Kras and integrin alpha1beta1 cooperate to drive the growth of non-small cell lung cancer in vivo - pmids: - - "18676835" - - text: A variety of molecular assays have been devised to detect mutated KRAS in pancreatic cancer. - pmids: - - "18614859" - - text: Data show that germ cell single base substitution mutation frequencies are very similar to somatic tissue Kirsten-RAS mutation frequencies. - pmids: - - "18418864" - - text: "Quantification of mutant KRAS2 in pancreatic juice differentiates pancreatic adenocarcinoma from chronic pancreatitis, and may be a useful early detection tool for pancreatic cancer." - pmids: - - "18075308" - - text: This is the first report in colorectal carcinoma of humans of internal tandem duplication longer than 1 codon in th KRAS gene and first insertion detected in exon 2. - pmids: - - "18669174" - - text: analysis of a signaling mechanism for the regulation of the Ras/ERK pathway based on the eNOS-dependent differential activation of N-Ras and K-Ras at specific cell compartments - pmids: - - "18641128" - - text: Increased frequency of K-ras mutations are associated with colorectal oncogenesis - pmids: - - "18559541" - - text: KRAS mutations are associated with cetuximab failure in EGFR FISH+ colorectal cancer. - pmids: - - "18577988" - - text: KRAS polymorphisms were indicated to be involved in risk for the development of atypical adenomatous hyperplasia that progresses to lung adenocarcinoma. - pmids: - - "18299280" - - text: "The G-rich strand of a nuclease hypersensitive element, located in the human KRAS promoter, can fold into a dynamic intra-molecular G-quadruplex that can assume two distinct conformations." - pmids: - - "18490377" - - text: CpG island methylator phenotype in colorectal neoplasms may result from activating mutations in either BRAF or KRAS. - pmids: - - "18435933" - - text: Provide a unique view of the tumor-initiating effects of oncogenic KRAS in a zebrafish model of pancreatic cancer. - pmids: - - "18549880" - - text: "K-ras mutation has been detected in the tumor tissue of 25 patients (33%). K-ras mutation hasn't been detected in the blood. tumors with K-ras mutation have a worse prognosis and often lead to disemination" - pmids: - - "18432074" - - text: "KRAS mutation may occur at a very low frequency in Chinese NSCLC patients regardless of pathology, smoking status, or gender." - pmids: - - "18418018" - - text: K-ras mutations have a limited role in development of sinonasal cancer - pmids: - - "18289366" - - text: first direct comparison of survival of resected patients with either EGFR or KRAS mutant lung adenocarcinomas compared with those wild type for both genes; EGFR & KRAS mutations define distinct molecular subsets of resected lung adenocarcinoma - pmids: - - "18303429" - - text: "high frequency of mutations in the PIK3CA, HRAS and KRAS genes leads us to believe that dysregulation of the phosphatidylinositol 3-kinase or Ras pathway is significant for the development and progression of penile carcinoma." - pmids: - - "18355852" - - text: KRAS status should be considered in selecting patients with mCRC as candidates for panitumumab monotherapy - pmids: - - "18316791" - - text: "while activated HrasV12 promotes differentiation and growth arrest in these endodermal progenitors, KrasV12 promotes their proliferation" - pmids: - - "18268007" - - text: Mutations in the K-ras is associated with colon cancers - pmids: - - "18224685" - - text: "In patients with lung adenocarcinoma, mutation analyses of EGFR and KRAS show whether or not to apply treatments targeting against EGFR and the selection of dosage for such treatments." - pmids: - - "18334834" - - text: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) - pmids: - - "20819778" - - "20736745" - - "20676756" - - "20565773" - - "20162668" - - "19853286" - - "19765726" - - "19237633" - - "18224685" - - text: Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator) - pmids: - - "18202412" - - text: "A worse clinical outcome was found for CIMP-high, microsatellite stable colorectal cancer with KRAS/BRAF mutation but not for those lacking KRAS/BRAF mutation." - pmids: - - "18199160" - - text: 54% of childhood CBF-AML had RTKs and/or Ras mutations - pmids: - - "17960171" - - text: "Data suggest that the intrinsic k-Ras/Ras GTPase activity, the responsiveness of these proteins to GTPase-activating proteins, and guanine nucleotide dissociation all regulate developmental programs in vivo." - pmids: - - "17875937" - - text: "KRAS2 c.34G > T somatic prescreening, followed by MUTYH hotspot mutation analysis when positive, can identify patients with (atypical) MUTYH-associated polyposis" - pmids: - - "18172263" - - text: results confirm the high prognostic value of KRAS mutations on response to cetuximab and survival in metastatic colorectal cancer patients treated with cetuximab - pmids: - - "18202412" - - text: The data support that the frequencies and patterns of somatic mutation of the K-ras gene in colorectal cancer are variable among populations. - pmids: - - "18265644" - - text: "All cases were wild-type for HER2. Mutations of EGFR and K-ras genes represent an early event in lung adenocarcinomagenesis, and AAH convincingly seems to be a precursor lesion in a subset of cases of adenocarcinoma." - pmids: - - "18208799" - - text: KRAS WT status is associated to survival benefit in cetuximab treated metastatic colorectal cancer. - pmids: - - "17998284" - - text: "Observational study of genotype prevalence, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "17285540" - - text: Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) - pmids: - - "16456810" - - text: "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "20972872" - - "20939111" - - "20884623" - - "20842128" - - "20686428" - - "20631636" - - "20630828" - - "20619739" - - "20413299" - - "20234366" - - "20186026" - - "20159991" - - "20145159" - - "20100964" - - "20100958" - - "20056178" - - "20035238" - - "20010090" - - "19952717" - - "19921572" - - "19884556" - - "19884551" - - "19862647" - - "19854533" - - "19738388" - - "19738126" - - "19667264" - - "19629485" - - "19603024" - - "19603018" - - "19596959" - - "19473722" - - "19398573" - - "19366826" - - "19339720" - - "19289622" - - "19289583" - - "19284554" - - "19281127" - - "19247083" - - "19196673" - - "19144677" - - "19057271" - - "19018267" - - "19001320" - - "18946061" - - "18932251" - - "18676755" - - "18669866" - - "18626007" - - "18621636" - - "18544172" - - "18500270" - - "17192902" - - "17060486" - - "16139926" - - text: Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) - pmids: - - "16043828" - - text: Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) - pmids: - - "16618717" - - "14688017" - - text: Observational study of gene-environment interaction. (HuGE Navigator) - pmids: - - "15958551" - - "14520703" - - text: Observational study of genotype prevalence. (HuGE Navigator) - pmids: - - "18289366" - - "18265644" - - "18172263" - - "17943694" - - "17904685" - - "16765042" - - "16533526" - - "16397024" - - "16142319" - - text: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) - pmids: - - "21048031" - - "20845292" - - "20350743" - - "19362747" - - "19358278" - - "19351817" - - "19326463" - - "19170196" - - "18922928" - - "18843035" - - "18794081" - - "17632319" - - "17568059" - - "17409930" - - "16905440" - - "16818665" - - "15824172" - - text: Observational study of gene-disease association. (HuGE Navigator) - pmids: - - "21080251" - - "21074889" - - "21072204" - - "21055216" - - "21051183" - - "20979647" - - "20955384" - - "20947270" - - "20937558" - - "20935157" - - "20881644" - - "20880116" - - "20860430" - - "20824720" - - "20813562" - - "20802181" - - "20734064" - - "20688547" - - "20682398" - - "20681447" - - "20678218" - - "20661086" - - "20652941" - - "20647319" - - "20646601" - - "20645028" - - "20628283" - - "20591910" - - "20583607" - - "20578946" - - "20571907" - - "20563851" - - "20559151" - - "20559149" - - "20542658" - - "20526288" - - "20501503" - - "20495538" - - "20459770" - - "20453000" - - "20444249" - - "20432164" - - "20385028" - - "20383576" - - "20381121" - - "20372787" - - "20361930" - - "20336783" - - "20305537" - - "20303012" - - "20302979" - - "20184776" - - "20183914" - - "20177422" - - "20150826" - - "20150643" - - "20118768" - - "20087229" - - "20086114" - - "20049644" - - "20020061" - - "20018398" - - "20008640" - - "19995707" - - "19960433" - - "19936766" - - "19935791" - - "19913317" - - "19908233" - - "19903786" - - "19865112" - - "19855375" - - "19854534" - - "19839777" - - "19826477" - - "19813061" - - "19740513" - - "19734844" - - "19727962" - - "19724844" - - "19723643" - - "19704056" - - "19692168" - - "19686742" - - "19679400" - - "19672874" - - "19639197" - - "19628078" - - "19625176" - - "19584155" - - "19584075" - - "19571295" - - "19561230" - - "19551857" - - "19543899" - - "19533561" - - "19527492" - - "19515263" - - "19487299" - - "19430562" - - "19420344" - - "19419940" - - "19418727" - - "19380522" - - "19369630" - - "19360305" - - "19358724" - - "19303097" - - "19302287" - - "19295453" - - "19273710" - - "19270482" - - "19240718" - - "19238633" - - "19234440" - - "19228630" - - "19206169" - - "19190129" - - "19179548" - - "19142971" - - "19141999" - - "19133693" - - "19107910" - - "19096302" - - "19096301" - - "19064568" - - "19047918" - - "19047118" - - "19020799" - - "19013464" - - "18957720" - - "18794094" - - "18782444" - - "18677542" - - "18676680" - - "18594528" - - "18592405" - - "18418018" - - "18383861" - - "18299280" - - "17910045" - - "17629419" - - "17504988" - - "17487277" - - "17471559" - - "17393356" - - "17354229" - - "17321325" - - "17270239" - - "16973828" - - "16808798" - - "16356174" - - "16144912" - - "16110022" - - "16077965" - - "16015387" - - "15994075" - - "15991278" - - "15531466" - - "15523694" - - "11016621" - - text: De novo germline HRAS (G12A) and KRAS (F156L) mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. - pmids: - - "17601930" - - text: "study of point mutations in RAS oncogenes in papillary thyroid carcinoma; 2 mutations found (GAA/CAA at codon 31 of K-RAS & CAA/CAC at codon 61 of N-RAS); data confirm previous studies, showing RAS mutations are more rare in PTC than follicular neoplasms" - pmids: - - "17943694" - - text: In 50 of the 66 primitive colorectal tumor cases at least one significant alteration was identified in Ki-Ras and/or TP53 and/or p16(INK4A) genes. - pmids: - - "16760301" - - text: Frequently mutated in high hyperdiploid childhood acute lymphoblastic leukemia. - pmids: - - "17910045" - - text: "2 novel mutations (K5E, G12S) were identified in 7 patients withcardio-facio-cutaneous syndrome, Costello syndrome or Noonan syndrome." - pmids: - - "17704260" - - text: The K-RAS gene was screened for mutations in Congenital cystic airway malformation/congenital pulmonary airway malformation...no mutations were present - pmids: - - "17714760" - - text: Specific TP53 mutations in L3 domain alone (only in DFS) or in combination with specific Ki-ras mutations at codon 13 are associated with a worse prognosis in sporadic colorectal cancer. - pmids: - - "15923430" - - text: "The results obtained from the RASCAL studies suggest that Ki-ras mutations might have an effect on survival rate of colorectal cancer patients, and that the specific codon 12 glycine/valine mutation might play a role in the progression of this neoplasia." - pmids: - - "15923428" - - text: Simultaneous measurement of K-ras and p16 mutations provides an additional tool in differential diagnosis of chronic pancreatitis and pancreatic adenocarcinoma. - pmids: - - "15608367" - - text: oncogenic K-RAS/ERK in pancreatic adenocarcinoma facilitates TGFbeta-induced transcriptional down-regulation of the tumor suppressor PTEN in a SMAD4-independent manner - pmids: - - "17638924" - - text: "The regulation of p21WAF1/CIP1, independent of p53 or bcl-2 expression, appears to be associated with Kras mutations." - pmids: - - "17873613" - - text: "tumor budding and podia formation were observed to be significantly higher in the 32 (34.7%) of colorectal tumors with K-ras gene mutations (29 mutations in codon 12, 3 in codon 13)" - pmids: - - "17707462" - - text: study reveals there are differences in the frequencies & types of K-ras & p53 mutations found in pancreatic adenocarcinomas of patients in high-pollution & low-pollution regions in Egypt & suggests that environmental factors may explain these differences - pmids: - - "17575320" - - text: k-ras codon 12 mutation is associated with non-small cell lung carcinoma - pmids: - - "18038880" - - text: data support the notion that K-ras-dependent inhibition of anoikis plays an important casual role in colorectal carcinoma progression - pmids: - - "17710156" - - text: Kras mutant lung cancer patients have a significantly worse prognosis than wild-type patients. - pmids: - - "17671710" - - text: "In conclusion, the data support a model whereby RbAp48 regulates cellular morphology and cytoskeletal organization by increasing K-Ras activity and signaling through MAPK." - pmids: - - "17974974" - - text: KRAS is rarely mutated in pilocytic astrocytomas. - pmids: - - "17712732" - - text: c-kit expression is not alternative to BRAF and/or KRAS activation. - pmids: - - "17487504" - - text: "KLF6 and p53 mutations are involved in the development of nonpolypoid colorectal carcinoma, whereas K-ras and B-raf mutations are not" - pmids: - - "17663506" - - text: "KRAS G34A mutation was relatively common to all classes of specimen, whereas TP53 gene C742T and G818C mutations were significantly more frequent in lichen sclerosus than normal genital skin." - pmids: - - "17554370" - - text: "study of EGFR, HER2, TP53& KRAS mutations of p14arf expression of non-small cell lung cancers in relation to smoking" - pmids: - - "17575133" - - text: "tobacco does not play a major part in acquisition of K-ras mutations in the pancreatic epithelium; although both smoking & K-ras mutations have important roles in the etiopathogenesis of exocrine pancreatic cancer, the 2 processes may act independently" - pmids: - - "17632319" - - text: Mutations in KRAS is associated with colon tumors - pmids: - - "17636402" - - text: "Wild type K-ras2 is related to the negative regulation of cell proliferation, metabolism and transcriptional control in colon carcinoma cells." - pmids: - - "17729418" - - text: an important relationship between K-ras codon 12 mutations and overall survival in colorectal cancer patients - pmids: - - "17629419" - - text: Circulating KRAS mutations originate from tumors and are prognostically relevant in lung cancer. - pmids: - - "17449174" - - text: "NSCLC cases with wt- or mutant KRAS, downregulation of EGFR expression was a rare event although upregulation in bone metastases was observed more frequently in wt K-RAS cases." - pmids: - - "17607370" - - text: RASSF1A methylation was observed in a high frequency in endometrioid endometrial carcinoma whereas K-ras and B-raf mutations were observed in a low frequency - pmids: - - "17170014" - - text: data suggest that mutations of the k-ras oncogene may induce activation of ERK1/2 in colorectal carcinoma - pmids: - - "17149612" - - text: Combined with screening of K-ras mutations and allelic losses of tumor suppressors p16 and DPC4 represents a very sensitive approach in screening for pancreatic malignancy. - pmids: - - "17659731" - - text: experiments provide a rationale for targeting Ras and associated signaling pathways in mesothelioma and also suggest cap-dependent translation as one mechanism by which Ras induces proliferation in this disease. - pmids: - - "17805054" - - text: The majority of colorectal and gastric cancer cells with KRAS mutations are homogeneous because they have the same KRAS mutation. - pmids: - - "17697521" - - text: KRAS KRAS mutations were observed significantly frequently in bronchial-type tumors - pmids: - - "17459062" - - text: "it is suggested that atypical adenomatous hyperplasia (AAH) could develop by either KRAS or EGFR gene mutation, but AAH harbouring a KRAS gene mutation might not progress further to an invasive cancer" - pmids: - - "17534846" - - text: In bronchioalveolar carcinoma/adenocarcinoma with bronchioalveolar features mucinous differentiation was significantly correlated with the absence of EGFR mutation and presence of KRAS mutation. - pmids: - - "17591931" - - text: "patients having juvenile myelomonocytic leukemia with NRAS or KRAS2 glycine to serine substitution received no chemotherapy, but hematologic improvement was observed during a 2- to 4-year follow up." - pmids: - - "17332249" - - text: "In 2 cases of ovarian tumors the same mutations of KRAS occurred in both the atypical proliferative serous (borderline) tumor and the high-grade serous carcinoma component of the tumor, indicating a clonal relationship." - pmids: - - "17592266" - - text: "Genetically, the non-polypoid growth type of submucosal invasive colorectal carcinoma shows much less frequent K-ras mutation." - pmids: - - "17465446" - - text: "Review: Exploring environmental causes of altered ras effects: fragmentation plus integration?" - pmids: - - "12557259" - - text: signaling initiated by activated Ki-ras interferes with the IFN/STAT signaling pathway and modulates the responsiveness of cancer cells to interferons - pmids: - - "12972432" - - text: Sensitivity of PNA clamp PCR assay in identifying occult micrometastases in the sentinal lymph nodes of colorectal cancer patients by single-base mutation analysis. - pmids: - - "15221969" - - text: Ras mutations do not play a significant role in the pathogenesis of multiple myeloma in the Spanish population - pmids: - - "16142319" - - text: The wild-type Kras2 gene effectively inhibits the growth of the colonic adenocarcinoma cell line Caco-2. - pmids: - - "17352027" - - text: Rna silencing of K-ras(V12) markedly decreased K-ras(V12) gene expression and inhibited cellular proliferation of lung cancer cells. - pmids: - - "17172815" - - text: "High-resolution melting analysiswill enable screening of gene mutations, such as KRAS to allow appropriate therapeutic choices for patients and accelerate research aimed at identifying novel mutations in human cancer." - pmids: - - "17184525" - - text: This pilot study suggests that low-level fractional allelic loss or K-ras mutation in the negative/atypical cytology samples of bile duct with malignant outcome is a representation of morphologically subtle molecular alterations. - pmids: - - "17227126" - - text: BRAF mutations are as uncommon as KRAS mutations in prostate adenocarcinoma - pmids: - - "16721785" - - text: 6 haplotype blocks were identified across the KRAS locus in endometriosis patients. No germline variants or differences in SNPs or haplotypes were seen between cases and controls. - pmids: - - "16973828" - - text: "c-Myc antagonized the induction of p21Cip1 mediated by oncogenic H-, K-, and N-Ras and by constitutively activated Raf and ERK2" - pmids: - - "15528212" - - text: results suggest that carcinogenesis in the biliary tract epithelium in anomalous pancreaticobiliary ductal union (APBDU) is accompanied by multistep genetic mutational events; K-ras gene mutation occurs early in epithelial hyperplasia or metaplasia - pmids: - - "12720172" - - text: mechanistic insights are now possible into how K-Ras contributes to pancreatic ductal carcinogenesis (review) - pmids: - - "16169155" - - text: Rodent and human tumor cells containing constitutively activated Raf/Raf/MEK/ERK pathways were resistant to mda-5-induced killing. - pmids: - - "16575407" - - text: These studies identify isoprenylcysteine carboxyl methyltransferase as a potential target for reducing the growth of K-Ras- and B-Raf-induced malignancies. - pmids: - - "14966563" - - text: "results demonstrate that the mutational status of BRAF and KRAS is distinctly different among histologic types of ovarian serous carcinoma, occurring most frequently in invasive micropapillary serous carcinomas and its precursors, serous borderline tumors" - pmids: - - "12644542" - - text: "In 239 Thai adult AML cases, 35 RAS mutations were found in 32 cases (13%) predominantly classified as M1/M2 (53%) followed by M4/M5 (38%). Ten cases were positive for NRAS codon 12, 11 for NRAS codon 61, 13 for NRAS codon 13, and one for KRAS codon 13." - pmids: - - "16573741" - - text: K-Ras promotes growth transformation and invasion of immortalized human pancreatic cells by Raf and phosphatidylinositol 3-kinase signaling. - pmids: - - "17332339" - - text: Mutations of BRAF or KRAS oncogenes are early events in the serrated polyp neoplasia pathway. CpG island methylation plays a role in serrated polyp progression to colorectal carcinoma. - pmids: - - "15489648" - - text: "data suggest that mutations of epidermal growth factor receptor (EGFR) and K-RAS genes might separately, but not cooperatively, contribute to lung adenocarcinoma pathogenesis" - pmids: - - "15815931" - - text: Mutations in transfect Ki-ras promote the formation of benign lung tumors and suggest potential targets for the development of novel chemotherapeutic and chemopreventive agents during the early stages of lung tumor progression. - pmids: - - "16482519" - - text: "Mutations of K-ras and Dpc4 genes can accumulate already in non-malignant, inflammatory pancreatic tissue, suggesting its applicability in monitoring of further destruction of pancreatic tissue and progression into malignancy." - pmids: - - "17436386" - - text: EGFR and K-ras mutations may have a role in progression of resected non-small-cell lung cancer - pmids: - - "17596643" - - text: "mutational analysis of KRAS, BRAF, and MAP2K1/2 in 56 patients with CFC syndrome; comparison of the genotype-phenotype correlation of CFC with that of Costello syndrome suggest a significant clinical overlap but not genotype overlap." - pmids: - - "17366577" - - text: "Mutant-type [(12)Asp]K-ras4B can enhance the expression of estrogen receptor alpha and beta proteins and their transcriptional activity as a transcription factor in endometrial carcinoma HEC-1A cell line." - pmids: - - "14989985" - - text: "p21Ras, hSOS1, and p120GAP are not involved in polycystic ovary disease" - pmids: - - "15010862" - - text: ANCA selectively activates K-ras during induction of a respiratory burst via pathways involving multiple upstream kinases. - pmids: - - "15548565" - - text: Detection of K-ras mutations in normal colonic mucosa might serve as a high-specificity approach to colorectal cancer. - pmids: - - "15514939" - - text: k-ras has a role in cell death through the p38 MAP kinase pathway in human colonic cancer cells - pmids: - - "15037631" - - text: Coordinated traffic of Grb2 and Ras during epidermal growth factor receptor endocytosis - pmids: - - "12006650" - - text: "p21Ras activation is instrumental in FVIIa signal transduction and the FVIIa-dependent activation of p21Ras involves either PKC or Src-dependent mechanisms, depending on the cell type investigated." - pmids: - - "12871370" - - text: K-ras mutations occur prominently in type 1 and type 2 gastric cancers. - pmids: - - "15734482" - - text: there is an inverse relationship between Kras2 activation and RASSF1A promoter methylation in the majority of human lung adenocarcinomas and large cell carcinomas - pmids: - - "14511407" - - text: LOH of chromosome 12p was seen in about 50% of human lung adenocarcinomas & large cell carcinomas. Kras2 mutations were seen at codon 12 in about 40% of adenocarcinomas & large cell carcinomas. The wild-type Kras2 is a tumor suppressor of lung cancer. - pmids: - - "12606951" - - text: Mutations in K-ras gene is associated with malignant melanomas - pmids: - - "14961576" - - text: K-Ras mutations were found in 80% of pancreatic adenocarcinoma cell lines and 100% of primary tumors. They were all missense mutations of Gly(12) to Val or Asp. - pmids: - - "15367885" - - text: KRAS2 mutations were seen in stomach neoplasms. - pmids: - - "14534542" - - text: "While most aberrant crypt foci do not have adenopolyposis coli mutations, a large proportion has KRAS mutations. (review)" - pmids: - - "16219426" - - text: Immunohistochemical staining of p21 appears to be of prognostic value in patients receiving systemic adjuvant chemotherapy for locally advanced bladder cancer. - pmids: - - "12372883" - - text: k-Ras has a role in promoting butyrate-induced apoptosis by inhibiting gelsolin expression - pmids: - - "15213223" - - text: K-ras mutations and RASSF1A promoter methylation in colorectal cancer - pmids: - - "12032847" - - text: Oncogene Protein p21(ras) accumulation was confined to the upper layer of esophageal squamous cell carcinoma. - pmids: - - "14654903" - - text: Clinical evidence that suggests a role for K-Ras in the formation of colorectal metastases. (review) - pmids: - - "16098678" - - text: study performed to determine the status of K-ras-2 in liver angiosarcomas (LAS) from workers occupationally exposed to vinyl chloride - pmids: - - "12211074" - - text: hepatocyte growth factor signaling and Ki-ras oncogene activation have roles in colorectal cancer - pmids: - - "16158056" - - text: Mutations do not confer a growth advantage to somatic heterozygous clusters or maintenance turnover units. - pmids: - - "16458330" - - text: "K-ras mutations were detected in 70% of neoplastic tissue samples, but no mutated DNA resulted in circulating DNA samples in pancreatic cancers." - pmids: - - "16552337" - - text: trichostatin A-induced cell death of Ki-Ras-transformed cells is enhanced by inhibition of NF-kappaB - pmids: - - "16774937" - - text: These data describe a functional association between K-Ras4B and nucleolin - pmids: - - "16889753" - - text: association between K-ras mutation and smoking in pancreatic cancer patients - pmids: - - "17198183" - - text: KRAS mutations were present in 3 of 16 serrated compared with 14 of 33 non-serrated hyperplastic aberrant crypt foci - pmids: - - "17440063" - - text: Mutations were detected by using allele-specific amplification method. - pmids: - - "11524732" - - text: "BRAF mutations, which are present in a variety of other human cancers, do not seem to be involved in gastric cancer development" - pmids: - - "14513361" - - text: types of mutations in sinonasal NK/T cell lymphoma in northeast district of China - pmids: - - "12824925" - - text: Constitutive activation of NF-kappaB in Ki-ras-transformed prostate epithelial cells - pmids: - - "12085227" - - text: findings indicate the wild-type KRAS allele is occasionally lost in lung cancer and the oncogenic activation of mutant KRAS is more frequently associated with overexpression of the mutant allele than with loss of the wild-type allele in NSCLC development - pmids: - - "14601056" - - text: The results suggest that oncogenic K-Ras enhances the malignant phenotype and identify the mitogen-activated protein kinase p38 as a target to inhibit oncogenic K-Ras-induced pancreatic tumor cell migration. - pmids: - - "16257181" - - text: Mutation and elevated expression of KRAS2 is associated with the development of testicular germ cell tumors - pmids: - - "16354586" - - text: A nuclease hypersensitive polypurine-A polypyrimidine element within the promoter of the KRAS proto-oncogene regulates transcription. - pmids: - - "16687659" - - text: "ras may be involved in early stages of larynx carcinogenesis and may be activated by other mechanisms different from mutations, such as epigenetic events" - pmids: - - "16761621" - - text: Ki-ras proto-oncogene mutation and p53 gene overexpression is associated with sporadic colorectal adenomas - pmids: - - "16896030" - - text: Urine might be a better resource for detecting K-ras mutation in circulating DNA in patients with colorectal cancer. - pmids: - - "17192038" - - text: One female patient exhibiting the distal phalangeal creases had a mutation in the KRAS gene. - pmids: - - "17324647" - - text: findings show that RASSF1A hypermethylation and KRAS mutations and BRAF mutations are inversely correlated and play an important role in the development of cervical adenocarcinomas - pmids: - - "17360030" - - text: Activated K-ras is associated with non-small cell lung cancer - pmids: - - "17549340" - - text: Ras modulates the proliferative response of RSF to TNF-alpha and TGF-alpha - pmids: - - "11822784" - - text: "Mutations in APC, Kirsten-ras, and p53--alternative genetic pathways to colorectal cancer. The most common combination of mutations was p53 and APC (27.1%), whereas mutations in both p53 and K-ras were extremely rare." - pmids: - - "12093899" - - text: K-ras mutations may have an effect on proliferation in pancreatic ductal adenocarcinoma - pmids: - - "14508142" - - text: K-ras mutation may play a role in the malignant transformation of pancreatic ductal cell. - pmids: - - "15040037" - - text: "Mutant human Kras(D12) suppresses IL-18 production in murine colorectal tumor cells, which may contribute to evasion of the local immune system during tumor development" - pmids: - - "16091732" - - text: "MUC5AC and MUC2, TFF1 and TFF3, APC and p21 in subsets of colorectal polyps and cancers suggests a distinct pathway of pathogenesis of mucinous carcinoma of the colorectum" - pmids: - - "16142311" - - text: "The positive expression rates of p21 and p53 proteins were 75.0% and 57.3% respectively in pancreatic carcinoma, which were significantly different from those in the normal tissue (P<0.05). p21 and p53 proteins were positively correlated (P<0.05)." - pmids: - - "14612290" - - text: Uncommon mutation types of K-ras may contribute to long term patient survival in pancreatic adenocarcinoma. - pmids: - - "12135058" - - text: "Co-mutation of p53 and K-ras gene has neither synergic carcinogenesis-promoting effect, nor prognostic effect on rectal cancer." - pmids: - - "15534934" - - text: Activating KRAS2 mutations were found in 82% of lethal metastatic pancreatic neoplasms. - pmids: - - "15846069" - - text: "H-Ras mediates FucT-VII induction in Jurkat T cells via the activation of the Raf, PI3K, and a distinct, H-Ras-specific effector signaling pathway." - pmids: - - "15262995" - - text: These findings suggest that endogenous Nore1B recruits active Ras to the APC-T cell interface and mediates the interaction between Ras and Carma1. - pmids: - - "16520020" - - text: The role of K-ras codon 12 and codon 13 mutations in human papillomavirus virus-associated colon tumors. - pmids: - - "16672071" - - text: "KRAS and p53 gene mutations, which are rarely simultaneous and are associated with specific DI aneuploid values, do not represent a synergistic evolutionary pathway but may influence mechanisms of chromosomal instability." - pmids: - - "16988471" - - text: Recurrent KRAS codon 146 mutations is associated with human colorectal cancer - pmids: - - "16969076" - - text: These findings suggest that continuous K-Ras activation accelerates cell growth and evokes a feedback system through IGFBP-4/2 to prevent excessive growth. - pmids: - - "17071580" - - text: "K-RAS is uniquely oncogenic in the colonic epithelium, though the molecular aspects of its oncogenic contribution are not necessarily conserved across cell lines." - pmids: - - "17133351" - - text: "Taken together, the observations indicate that both H-Ras(G12V) and K-Ras4B(G12V) activates non-conventional and perhaps unique effector pathways to induce cytoplasmic vacuolation in glioblastoma cells." - pmids: - - "17210246" - - text: "among adenocarcinomas, nonmucinous and mucinous bronchioloalveolar carcinoma components were significantly associated with EGFR and K-ras gene mutations, respectively" - pmids: - - "17580276" - - text: KRAS2 mutations have been detected in laser-capture microdissected atypical endometrial hyperplasia specimens arising concurrently with endometrial carcinoma. - pmids: - - "11746970" - - text: "RAS or BRAF mutations are detected in about 32% of all Barrett's adenocarcinomas; the disruption of the Raf/MEK/ERK (MAPK) kinase pathway is a frequent but also early event in the development of Barrett's adenocarcinoma" - pmids: - - "14724583" - - text: codon 12 K-ras mutations in lung tumors or sputum samples from 102 lung cancer patients - pmids: - - "12826308" - - text: Point mutations in Ki-ras gene is associated with colorectal cancers in mexican patients - pmids: - - "12908779" - - text: mutations in K-ras have been detected in primary carcinoma of small intestine - pmids: - - "11836595" - - text: Ki-ras mutations and HGF signaling cooperate to enhance tumor growth by increased duration of MAPK activation and decreased apoptosis in human carcinoma cells. - pmids: - - "12651912" - - text: Mutations in either the EGFR TK domain or the KRAS gene can lead to lung cancer pathogenesis. EGFR TK domain mutations are the first molecular change known to occur specifically in never smokers. - pmids: - - "15741570" - - text: The sequential accumulation of mutations in K-ras drives the transition from normal epithelium through increasing adenomatous dysplasia to colorectal cancer. - pmids: - - "15943410" - - text: KRAS mutation occurred frequently (26.5%) in adenomas and particularly in adenomas with villous architecture. - pmids: - - "16879389" - - text: "analysis of H-RAS, K-RAS and N-RAS expression in acute myeloid leukemia" - pmids: - - "16923573" - - text: K-ras mutations are associated with colorectal cancers - pmids: - - "16918136" - - text: "Phenotypic variability may be related, at least in part, to specific genotypes and possibly reflects the central role of K-Ras in a number of different signalling pathways." - pmids: - - "17056636" - - text: Presence of an oncogenic KRAS allele results in a dynamic physical interaction between endogenous N-RAS and gelsolin that correlates with survival in colorectal cancer cell lines. - pmids: - - "17130841" - - text: data suggest that BRAF mutations might be present less frequently than KRAS mutations in Greek patients with colorectal carcinomas - pmids: - - "17393356" - - text: The results suggest a potential role for Ca2+/calmodulin in the regulation of K-RasB function. - pmids: - - "12727204" - - text: comparison with mouse data show a pattern of gene expression indicative of KRAS2 mutation and oncogenic activity - pmids: - - "15608639" - - text: controversial link of KRAS mutations in colorectal cancer with chromosomal instability and patient prognosis (review) - pmids: - - "16112461" - - text: "Multiple K-RAS mutations are frequent both in PC with associated PanIN and in biliary cancers, and indicate that clonally distinct precursor lesions of PC might variably contribute to tumor development." - pmids: - - "12082617" - - text: "acute hyperglycemia-mediated mononuclear cell activation is dependent on activation of ras, p42/p44 mitogen-activated protein kinase phosphorylation, and subsequent NF-kappaB activation" - pmids: - - "12606501" - - text: Specific T-cell immunity against Ki-ras peptides in patients with pancreatic and colorectal cancers. - pmids: - - "12592366" - - text: Results suggest that changes in telomerase activity and K-ras point mutation at codon 12 may be an early event of malignant progression in pancreatic cancer. - pmids: - - "15112354" - - text: K-ras mutations are frequently found in surgical margins in non-small-cell lung carcinoma patients. - pmids: - - "15112277" - - text: oncogenic levels of mitogen-activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12-13VC - pmids: - - "11668624" - - text: "the constitutive activation of Ras might have induced the persistent expression of p21cip1 and p27kip1, and that this induction of p21cip1 and p27kip1 expression possibly caused the cell cycle arrest at the G1 phase." - pmids: - - "12452332" - - text: "No somatic mutations were identified in either TP53 or KRAS, indicating that disregulation of these genes is not required for leiomyomas development" - pmids: - - "12766905" - - text: ovarian serous cystadenomas do not contain mutations in either BRAF or KRAS genes - pmids: - - "15077125" - - text: "Polymorphisms in some insulin-related genes are associated with an increased risk of colon cancer with specific KRAS2 and TP53 mutations, implying a link between these genetic changes and specific mutational pathways in carcinogenesis." - pmids: - - "16448675" - - text: Germline KRAS mutations are a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is due to hyperactive Ras. - pmids: - - "16474405" - - text: Cardio-facio-cutaneous (CFC) syndrome involves dysregulation of the RAS-RAF-ERK pathway. - pmids: - - "16474404" - - text: Genomic instability may occur on 12p-12-13 of Kras2 gene in the development and progression of colon carcinoma. The high LOH of Kras2 gene may directly influence the transcription and translation of wild type Kras2 gene. - pmids: - - "16534842" - - text: "BRAF, K-ras and BAT26 are expressed in colorectal polyps and stool" - pmids: - - "16937524" - - text: "A KRAS mutation in a baby girl with an early clinical diagnosis of cardio-facio-cutaneous syndrome associated with a large ulcerating hemangioma, is reported." - pmids: - - "17551339" - - text: "Detection of P21 may be used as the screening marker for diagnosis of polycyclic aromatic hydrocarbons (PAHs)-related lung cancer related lung cancer, and may supplement the diagnostic value of conventional cytology." - pmids: - - "14761400" - - text: KRAS has a role in villous growth in colorectal adenomas - pmids: - - "16373972" - - text: the combination of an activating mutation of the TSH receptor (T620I) and a mutation of the Ki-RAS (G12C) genes may play an important role in both the hyperfunction of follicular thyroid carcinoma and the carcinogenetic process - pmids: - - "16756473" - - text: "Concomitant KRAS and BRAF mutations increased along progression of MSS colorectal cancer, suggesting that activation of both genes is likely to harbour a synergistic effect" - pmids: - - "16953233" - - text: analysis of oxidative posttranslational modifications of cysteine thiols of p21ras associated with redox modulation - pmids: - - "17320764" - - text: valine-12 Ki-Ras mutants demonstrated a greater ability to invade Matrigel than cells expressing the aspartate-12 mutant or wild-type Ki-Ras proteins. - pmids: - - "11745690" - - text: "It is proposed that lowering the affinity for GTP allows G12D Ras an escape from the oncogenic GTP-bound state, whereas GTP tightly bound to G12V mutant Ras generates a more persistent, potentially oncogenic, signal." - pmids: - - "10398103" - - text: "K-Ras4B polybasic domain or an alternatively prenylated CAAX renders Ras prenylation, Ras-induced Elk-1 activation, and anchorage-independent cell growth farnesyltransferase inhibitor-resistant." - pmids: - - "12882980" - - text: "" - pmids: [] -- gene_id: "7273" - summary: "This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]" - rif_entries: - - text: Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation. - pmids: - - "36637017" - - text: "[Recent studies on dilated cardiomyopathy caused by TTN mutations in children]." - pmids: - - "36854701" - - text: "Anxiety and Cardiovascular Disease Risk: a Review." - pmids: - - "27796859" - - text: Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. - pmids: - - "36495114" - - text: Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery. - pmids: - - "36525964" - - text: Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant. - pmids: - - "35605965" - - text: Interdomain Linker Effect on the Mechanical Stability of Ig Domains in Titin. - pmids: - - "36077234" - - text: TTN Variants Are Associated with Physical Performance and Provide Potential Markers for Sport-Related Phenotypes. - pmids: - - "36011809" - - text: "Titin-related Cardiomyopathy: Is it a Distinct Disease?" - pmids: - - "35759169" - - text: Exploring the Potential of Symmetric Exon Deletion to Treat Non-Ischemic Dilated Cardiomyopathy by Removing Frameshift Mutations in TTN. - pmids: - - "35741855" - - text: Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region. - pmids: - - "35627290" - - text: "Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family." - pmids: - - "35239051" - - text: Truncated titin proteins in dilated cardiomyopathy. - pmids: - - "34731015" - - text: Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations. - pmids: - - "34731013" - - text: Functional impact of titin (TTN) mutations in ocular surface squamous neoplasia. - pmids: - - "34838574" - - text: "Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences." - pmids: - - "33106378" - - text: When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability. - pmids: - - "33438037" - - text: Titin-truncating mutations associated with dilated cardiomyopathy alter length-dependent activation and its modulation via phosphorylation. - pmids: - - "33135063" - - text: Reading Frame Repair of TTN Truncation Variants Restores Titin Quantity and Functions. - pmids: - - "34905694" - - text: Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy. - pmids: - - "34461741" - - text: Prevalence and Evolution of Right Ventricular Dysfunction Among Different Genetic Backgrounds in Dilated Cardiomyopathy. - pmids: - - "34273475" - - text: Genotype phenotype analysis in a family carrying truncating mutations in the titin gene. - pmids: - - "33870097" - - text: Making sense of missense variants in TTN-related congenital myopathies. - pmids: - - "33449170" - - text: "Substrate Characterization and Outcomes of Ventricular Tachycardia Ablation in TTN (Titin) Cardiomyopathy: A Multicenter Study." - pmids: - - "34315225" - - text: The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy. - pmids: - - "34201072" - - text: "The Interplay Between Titin, Polygenic Risk, and Modifiable Cardiovascular Risk Factors in Atrial Fibrillation." - pmids: - - "33373724" - - text: Single-Molecule Force Spectroscopy Studies of Missense Titin Mutations That Are Likely Causing Cardiomyopathy. - pmids: - - "34618459" - - text: Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease. - pmids: - - "33190517" - - text: Muscle ankyrin repeat protein 1 (MARP1) locks titin to the sarcomeric thin filament and is a passive force regulator. - pmids: - - "34152365" - - text: A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure. - pmids: - - "34108290" - - text: Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients. - pmids: - - "32955937" - - text: Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. - pmids: - - "31660661" - - text: "The importance of chain context in assessing small nucleotide variants in titin: in silico case study of the I10-I11 tandem and its arrhythmic right ventricular cardiomyopathy linked position T2580." - pmids: - - "32396765" - - text: Generation of a hiPSC line ZZUNEUi017-A from a patient with dilated cardiomyopathy caused by mutation in TTN. - pmids: - - "33610015" - - text: LncRNA TTNAS1 promotes endometrial cancer by sponging miR376a3p. - pmids: - - "32945477" - - text: Molecular Characterisation of Titin N2A and Its Binding of CARP Reveals a Titin/Actin Cross-linking Mechanism. - pmids: - - "33647290" - - text: Prognostic implications of pathogenic truncating variants in the TTN gene. - pmids: - - "32371228" - - text: Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy. - pmids: - - "32815318" - - text: "[Analysis of DSG2, TTN and GATA4 gene variants in patients with Brugada syndrome from Henan]." - pmids: - - "33974263" - - text: A Novel Titin Truncation Variant Linked to Familial Dilated Cardiomyopathy Found in a Japanese Family and Its Functional Analysis in Genome-Edited Model Cells. - pmids: - - "33678800" - - text: "N2A Titin: Signaling Hub and Mechanical Switch in Skeletal Muscle." - pmids: - - "32492876" - - text: Long non-coding RNA TTN-AS1 aggravates carcinogenesis through Wnt/beta-catenin signaling pathway by sponging miR-1271 in hepatocellular carcinoma. - pmids: - - "31295985" - - text: Elevated Urinary Titin and its Associated Clinical Outcomes after Acute Stroke. - pmids: - - "33360523" - - text: Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene. - pmids: - - "32964742" - - text: Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study. - pmids: - - "31712709" - - text: "Lymphocytic Myocarditis: A Genetically Predisposed Disease?" - pmids: - - "32553263" - - text: Prediction of the initial folding sites and the entire folding processes for Ig-like beta-sandwich proteins. - pmids: - - "31833097" - - text: Titin Truncating Variants in Adults Without Known Congestive Heart Failure. - pmids: - - "32164899" - - text: "Prevalence of TTN mutations in patients with dilated cardiomyopathy : A meta-analysis.\", trans \"Pravalenz von TTN-Mutationen bei Patienten mit dilatativer Kardiomyopathie : Eine Metaanalyse." - pmids: - - "31209521" - - text: Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis. - pmids: - - "32572052" - - text: Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. - pmids: - - "32039858" - - text: Upregulation of Yy1 Suppresses Dilated Cardiomyopathy caused by Ttn insufficiency. - pmids: - - "31705051" - - text: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy. - pmids: - - "30858397" - - text: Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation. - pmids: - - "31638414" - - text: "Stretching single titin molecules from failing human hearts reveals titin's role in blunting cardiac kinetic reserve." - pmids: - - "30778519" - - text: Truncating founder mutations in TTN shows a relatively mild disease course with significant excess mortality in elderly patients. - pmids: - - "31112426" - - text: "TTN gene deletion is associated with skeletal myopathy, facial weakness, and dilated cardiomyopathy." - pmids: - - "31489791" - - text: We analyzed left ventricular samples from young (6months) and old (20months) wild-type mice and healthy human donor patients grouped according to age in young (17-50years) and aged hearts (51-73years). We found no age-dependent differences in titin isoform composition of mouse or human hearts - pmids: - - "31421188" - - text: To effectively assemble and evaluate AONs for efficient exon-skipping in targeted TTN exons. - pmids: - - "30998980" - - text: Cronos titin is expressed in developing human cardiac myocytes and is able to support partial sarcomere formation in the absence of full-length titin. Cronos titin is necessary for proper sarcomere function in human induced pluripotent stem cell derived cardiac myocytes. - pmids: - - "31587567" - - text: an impaired interaction between titin and MURF1 as a novel mechanism underlying the pathogenesis ofHypertrophic cardiomyopathy (HCM). - pmids: - - "31628103" - - text: "The novel mutations reported expand the mutation spectrum of the TTN gene. There is a characteristic pattern of muscle involvement in congenital titinopathy regardless of clinical or pathological phenotype, providing valuable clues for guiding a genetic diagnosis workup." - pmids: - - "31353864" - - text: "In this review, we first recollect what is known from earlier and recent work on the molecular mechanisms of titin extensibility and force generation. The main goal then is to provide a comprehensive overview of current insight into the relationship between titin PTMs and cardiomyocyte stiffness, notably the effect of oxidation and phosphorylation of titin spring segments on titin stiffness." - pmids: - - "30989819" - - text: The considerable prevalence of truncating variants in titin reduce contractile function in dilated cardiomyopathy by impairing sarcomerogenesis. (Review) - pmids: - - "30978303" - - text: Individuals of European ancestry with titin truncating variants have an abnormal cardiac phenotype with lower left ejection fraction. - pmids: - - "31216868" - - text: Nine of the 14 relatives with a familial TTN mutation had no signs of a cardiomyopathy. - pmids: - - "30947911" - - text: TTN-AS1 promoted colorectal cancer proliferation and invasion through miR-376a-3p/KLF15 axis. Our findings suggested that TTN-AS1 might be a potential therapeutic target in CRC treatment. - pmids: - - "31610194" - - text: "identified a homozygous missense variant in TTN, which likely explains limb-girdle muscular dystrophy type 10 in this family in line with similar previously reported data" - pmids: - - "31664938" - - text: the clinical significance of U-TN in the diagnosis of muscular dystrophies and differential diagnosis of cardiomyopathies - pmids: - - "30959043" - - text: Editorial on studies of titan genetic variants in dilated cardiomyopathy. - pmids: - - "29377983" - - text: Hemodynamic stress may be an important modifiable risk factor in human TTN truncation variant-related Dilated cardiomyopathy. - pmids: - - "30354343" - - text: This study demonstrated that the Genetic Variants in Titin in Patients With Muscle Disorders. - pmids: - - "29435569" - - text: PTB4 is a novel titin splicing regulator that counteracts the splice repressor activity of RBM20. - pmids: - - "29518215" - - text: Our case below further highlights the phenotypic variability and cardiac involvement in recessive titinopathy - pmids: - - "30681174" - - text: "The study observed abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes. Isolated were cardiac myofibrils from 3 TTNtv mutants, and 3 with contractile protein mutations (TNNI3 K36Q, TNNC1 G159D and MYH7 E1426K) and measured their contractility and passive stiffness in comparison with donor heart muscle as a control." - pmids: - - "29093449" - - text: Two novel previously undescribed mutations identified in HMERF titinopathy. - pmids: - - "30666435" - - text: "Novel mutations in TTN Mex5, Mex6 and A-band exon 340 were identified in homozygosity or compound heterozygosity with a frameshift or nonsense mutation in TTN I- or A-band region. Family members having only one of these TTN mutations were healthy. Our results add yet another entity to the list of distal myopathies: juvenile or early adult onset recessive distal titinopathy." - pmids: - - "27796757" - - text: "Missense mutation of TTN may act as a beneficial role in lung squamous cell carcinoma, but not in lung adenocarcinoma." - pmids: - - "30810839" - - text: "Study demonstrates that while the basal excitation-contraction-coupling machinery of titin-mutated induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) from dilated cardiomyopathy patients appears intact, their responsiveness to positive inotropic interventions is blunted compared to healthy iPSC-CM." - pmids: - - "30332462" - - text: Titin I27 folds in the mouth of the ribosome exit tunnel. - pmids: - - "30413621" - - text: "The finding expands the phenotypes that can be caused by pathogenic variants TTN, which should be considered in lethal congenital contracture syndromes, arthrogryposis multiplex congenita, congenital myopathies, and hydrops fetalis." - pmids: - - "29575618" - - text: A founder effect in TTN was found to be associated with cardiomyopathy. - pmids: - - "29057560" - - text: Obscurin-Binding Domains in Titin - pmids: - - "30289063" - - text: truncating variants important risk factors for atrial fibrillation - pmids: - - "30333491" - - text: "Among the 120 dilated cardiomyopathy patients, 20 (16.7%) had TTN truncating variants." - pmids: - - "29386531" - - text: "In a case-control study, there was a statistically significant association between an LOF variant in the TTN gene and early-onset AF, with the variant present in a small percentage of participants with early-onset AF (the case group)." - pmids: - - "30535219" - - text: "novel titin gene-truncating mutation NM_001267550: p.Leu23499fs/c.70497_40498insT found in the proband as well as in her mother in woman with peripartum cardiomyopathy" - pmids: - - "29997384" - - text: Titin isoform expression differs in aortic stenosis and aortic regurgitation as adaptive response to different pathophysiologic scenarios. - pmids: - - "29472025" - - text: "TTN missense variants were commonly identified in arrhythmogenic cardiomyopathy patients in this cohort, but did not appear to play a primary role in ACM as causative variants." - pmids: - - "29750433" - - text: This is the first study to suggest the involvement of the novel missense CACNA1C c.1786G>A and TTN c.49415G>A variants in the inheritance of symptomatic bradycardia and development of sick sinus syndrome. - pmids: - - "29568937" - - text: We employed WES to detect the mutations of DCM patients and identified 2 novel mutations. Our study expands the spectrum of TTN mutations and offers accurate genetic testing information for DCM patients who are still clinically negative. - pmids: - - "27544385" - - text: "urinary concentration of titin correlated significantly with serum creatine kinase concentration, the best-known biomarker of Duchenne muscular dystrophy; the N-terminal fragment of titin in urine has potential as a diagnostic and clinical biomarker for DMD" - pmids: - - "29175173" - - text: we considered titin fragments as promising candidates for reliable and non-invasive biomarkers of muscle injury. - pmids: - - "27991570" - - text: "TTN plays a role in regulation of cardiac electrical conductance and coupling, and is a risk factor for cardiac arrhythmias and sudden cardiac death" - pmids: - - "27321809" - - text: The T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men. - pmids: - - "28581678" - - text: "An overview of the different neuromuscular disorders caused by mutations in the TTN gene, reviewing the molecular findings as well as the clinical data (review)." - pmids: - - "27854229" - - text: "This review considers data on structural and functional features of titin, on the role of this protein in determination of mechanical properties of sarcomeres, and on specific features of regulation of the stiffness and elasticity of its molecules, and possible amyloid aggregation of this protein" - pmids: - - "29523065" - - text: Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. - pmids: - - "26392295" - - text: "Study found that there is a missense mutation in the TTN gene, c.100126A > G (p.Thr33376Ala), in a family whose members suffer from familial dilated cardiomyopathy. TTN is closely related to dilated cardiomyopathy and is an important causative gene of familial dilated cardiomyopathy." - pmids: - - "29109008" - - text: Truncating titin mutations cause a mild and treatable form of dilated cardiomyopathy. - pmids: - - "27813223" - - text: Activation of titin protein represents an initial step forward adaptive remodelling of the exercised muscle and may also be involved in the initiation of myofibre repair. - pmids: - - "28712031" - - text: Quantitative models derived from large-scale human genetic and phenotypic data can be applied to truncating mutations in titin in dilated cardiomyopathy. - pmids: - - "27625338" - - text: Novel A178D missense mutation in titin is a cause of a highly penetrant familial cardiomyopathy with features of left ventricular noncompaction. - pmids: - - "27625337" - - text: "Variants near TTN and CCDC8 were associated with KI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in hepatitis B-related hepatocellular carcinoma patients." - pmids: - - "28700999" - - text: Recent studies classify pathogenic variants in the TTN gene as the main responsible for Familial Dilated Cardiomyopathy. - pmids: - - "27736720" - - text: TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death. - pmids: - - "28822653" - - text: Heterozygous loss of RBM20 suffices to profoundly impair myocyte biomechanics by its disturbance of TTN splicing causing dilated cardiomyopathy. - pmids: - - "27496873" - - text: Study identified a probable association between variation in TTN gene and patients with sudden unexpected death syndrome. - pmids: - - "28704380" - - text: We report that missense variant in the A-band of TTN gene is the strongest candidate mutation for autosomal-dominant inguinal hernia with incomplete penetrance. - pmids: - - "27115767" - - text: Titin-truncating variant is associated with dilated cardiomyopathy. - pmids: - - "27869827" - - text: Data suggest that disulfide bonds can alter mechanical stability of proteins in different ways depending on properties of system. Disulfide-bonded E coli FimG (minor component of type 1 fimbriae) undergoes a 30% increase in its mechanical stability compared with its reduced counterpart. Unfolding force of human titan I91 domain exhibits decrease of 15% relative to the wild-type form. - pmids: - - "28642368" - - text: "TTN truncating variants were observed in nearly one fourth of young dilated cardiomyopathy patient population, in vast majority without conduction system disease." - pmids: - - "28045975" - - text: "detected an Linkage Disequilibrium block associated with a rapid functional decline in patients with sporadic ALS, which is linked to decreased expression of TTN." - pmids: - - "26746183" - - text: "An estimated probability of pathogenicity of TTN truncating mutations affecting all transcripts of TTN, identified in unselected dilated cardiomyopathy patients is 97.8%." - pmids: - - "26777568" - - text: TTN variant segregated with hypertrophic cardiomyopathy in affected members of the family. - pmids: - - "28223422" - - text: A distinct phenotype for patients with distal myopathy is associated with novel recessive TTN variants including a Serbian founder variant. - pmids: - - "28295036" - - text: "The results showed that MYBPC3 25-bp deletion polymorphism was significantly associated with elevated risk of left ventricular dysfunction (LVD), while TTN 18 bp I/D, TNNT2 5 bp I/D and myospryn K2906N polymorphisms did not show any significant association with LVD." - pmids: - - "27350668" - - text: Results show that the titin I27Y9P variant has similar mechanical stability as the wildtype. - pmids: - - "27021163" - - text: "Phosphorylating Titin's Cardiac N2B Element by ERK2 or CaMKIIdelta Lowers the Single Molecule and Cardiac Muscle Force" - pmids: - - "26682816" - - text: Suggest a potential biological role for some TTN missense variants in dilated cardiomyopathy. - pmids: - - "26567375" - - text: "Data suggest that titin functions as an integrated protein chain where functionalities emerge from the joint action of titan and other sarcomere/A-band components (such as TCAP); titin exhibits tertiary elasticity and molecular shape memory. [REVIEW]" - pmids: - - "26517893" - - text: a large number of VUS in the TTN gene were identified from a cohort of samples from patients suffering cardiac diseases associated with sudden cardiac death. - pmids: - - "26516846" - - text: "TTN mutations have been strongly associated with four cardiomyopathies: Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy and Restrictive cardiomyopathy." - pmids: - - "26024954" - - text: The distribution of truncating variants in a large series of women with peripartum cardiomyopathy was remarkably similar to that found in patients with idiopathic dilated cardiomyopathy. - pmids: - - "26735901" - - text: Cleavage of C-terminal titin by CAPN3 is associated with limb-girdle muscular dystrophy 2A and tibial muscular dystrophy. - pmids: - - "25877298" - - text: findings indicate that titin mutations cause dilated cardiomyopathy by disrupting critical linkages between sarcomerogenesis and adaptive remodeling - pmids: - - "26315439" - - text: Engineered all four of the naturally occurring human M10 (the extreme C-terminus of titin) missense mutants and biophysically characterized them in vitro. - pmids: - - "25739468" - - text: an increase in intracellular Ca(2+) concentration leads to Ca(2+) binding to the PEVK region of titin. - pmids: - - "25421125" - - text: "An increase in the degree of titin phosphorylation results in increased proteolytic degradation of this protein, that contributes to the development of skeletal muscle atrophy." - pmids: - - "26394485" - - text: TTNtv is the most common genetic cause of dilated cardiomyopathy in ambulant patients - pmids: - - "25589632" - - text: MMP-2 degraded Titin fragment in serum is related to induction of skeletal muscle atrophy. - pmids: - - "25077715" - - text: individual subfragments of titin and myomesin composed of Fn type III and Ig-like domains can activate expression of two IGF-1 splice forms in cultured myoblasts - pmids: - - "25152160" - - text: "Patients with hypertension and heart failure with preserved ejection fraction had an increase in S11878(S26), no change in S12022(S170) and a decrease in S4185(S469). There were no significant differences between HTN(-)HFpEF or controls at these 3 sites." - pmids: - - "25637629" - - text: Results suggest that mutation in TTN could be implicated in the pathogenesis of puerperal cardiomyopathies. - pmids: - - "24558114" - - text: "this study presents here the X-ray structure of the human titin:obscurin M10:O1 complex extending our previous work on the M10:OL1 interaction." - pmids: - - "25490259" - - text: DNA sequence analysis of patients with dilated cardiomyopathy shows that genetic variation in TTN gene contributes to a 14% of the cases. - pmids: - - "24503780" - - text: alpha-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin - pmids: - - "25447537" - - text: "Eccentric explosive exercise induced a stretch or fragmentation of titin, which presented as a positional change of the COOH terminus." - pmids: - - "24458745" - - text: Data reveal that Titin protein is a pseudokinase with non-detectable catalytic output but is a high-affinity binding locus for MuRF1. - pmids: - - "24850911" - - text: Investigated how hereditary myopathy with early respiratory failure disease-causing mutations affect the biochemical behavior of TTN gene that codes for the fibronectin III domain 119; suggests defective protein folding - pmids: - - "24636144" - - text: This study proves that the titin p.C30071R mutation itself (rather than the haplotype containing this mutation) causes hereditary myopathy with early respiratory failure and suggests its independent origin in different ethnic groups. - pmids: - - "24444549" - - text: "In a novel mouse model, titin's stiffness is slightly increased by deleting nine immunoglobulin (Ig)-like domains from titin's constitutively expressed proximal tandem Ig segment (IG KO)." - pmids: - - "24470489" - - text: Heterozygous TTN truncating mutations may not manifest unless associated with a second mutation in novel forms of core myopathy with heart disease. - pmids: - - "24105469" - - text: Mutations in titin were found to cause familial restrictive cardiomyopathy. - pmids: - - "24315344" - - text: the hereditary myopathy with early respiratory failure due to mutations in the TTN gene be nosologically classified as myofibrillar myopathy-titinopathy. - pmids: - - "23486992" - - text: "Study shows that mechanical unfolding of titin immunoglobulin (Ig) domains exposes buried cysteine residues, which then can be S-glutathionylated. S-glutathionylation of cryptic cysteines greatly decreases the mechanical stability of the parent Ig domain as well as its ability to fold. Both effects favor a more extensible state of titin." - pmids: - - "24630725" - - text: "This review covers the roles of cardiac titin in normal and failing hearts, emphasizing its contribution to diastolic stiffness, and updates disease-associated titin mutations and the impact of protein-protein interactions on its properties and functions." - pmids: - - "24625729" - - text: The results of this study demonistrated that complexity of muscular dystrophies caused by TTN mutations and suggest that the coexistence of second mutations may constitute a more common general mechanism explaining phenotype variability. - pmids: - - "24395473" - - text: Differential changes in titin domain phosphorylation increase myofilament stiffness in failing human hearts. - pmids: - - "23764881" - - text: High TTN expression is associated with gastric cancer. - pmids: - - "23907728" - - text: a strong relationship between mutations in the A-band domain of titin and hereditary myopathy with early respiratory failure - pmids: - - "23446887" - - text: novel titin Ig-calcium interaction - pmids: - - "23224300" - - text: "TTN mutations are associated with centronuclear myopathy (CNM): TTN mutation analysis should be considered in cases of possible CNM without mutations in the classic CNM genes." - pmids: - - "23975875" - - text: TTN was the only gene with inplicated rare variants that occurred in multiple DCM families and A region (chr9q21.11-q22.31) with no known DCM genes with a maximum heterogeneity logarithm of odds score of 1.74. - pmids: - - "23418287" - - text: This study identified p.Gly30150Asp and the p.Cys30071Arg mutation are localized to a side chain of fibronectin type III element A150 of the 10th C-zone super-repeat of titin. - pmids: - - "23514108" - - text: "[review] Signal pathways of titin isoforms are described in a major human cardiovascular disease." - pmids: - - "23439446" - - text: Human end-stage failing hearts revealed higher CaMKII expression/activity & phosphorylation at PEVK/titin N2B-unique sequence sites than donor hearts. Deranged CaMKII-dependent titin phosphorylation contributes to altered diastolic stress. - pmids: - - "23283722" - - text: titin-12670 fragment is present in both individuals with undiagnosed and diagnosed CVD. The statistically significant increase in level of the marker in the AMI group is indicative that this neoepitope biomarker may be a useful serological marker in AMI - pmids: - - "22768802" - - text: Different pressure-temperature behavior of the structured and unstructured regions of titin. - pmids: - - "23063534" - - text: A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics. - pmids: - - "22778266" - - text: Spontaneous dimerization of titin protein Z1Z2 domains induces strong nanomechanical anchoring. - pmids: - - "22523089" - - text: This study identified three different Swedish Hereditary myopathy with early respiratory failure families with a new mutation in the A-band titin. - pmids: - - "22577218" - - text: This study presented that patients with hereditary myopathy with early respiratory failure linke with Titin mutation. - pmids: - - "22577215" - - text: "In addition to titin (TTN), we identified a set of 30 genes with conserved splicing regulation between humans and rats" - pmids: - - "22466703" - - text: "in response to the increased compliance of the extracellular matrix in muscle of tenascin-X deficient Ehlers-Danlos Syndrome patients, a marked intracellular stiffening occurs of the giant protein titin" - pmids: - - "22223454" - - text: "In the present study, we describe a novel titin truncation mutation causing adult-onset familial dilated cardiomyopathy in an Israeli Arab family." - pmids: - - "22475360" - - text: "Robust and processive unfolding/degradation of some substrates with very stable protein domains, including mDHFR and titin(I27) ." - pmids: - - "22162032" - - text: "TTN truncating mutations are a common cause of dilated cardiomyopathy, occurring in approximately 25% of familial cases of idiopathic dilated cardiomyopathy and in 18% of sporadic cases." - pmids: - - "22335739" - - text: titin kinase is organized in such a way that the regulatory domains have to unfold before secondary structure elements that determine the overall fold and catalytic function - pmids: - - "22004752" - - text: MMP-2 localizes to titin at the Z-disk region of the cardiac sarcomere and contributes to titin degradation in myocardial ischemia/reperfusion injury. - pmids: - - "21041693" - - text: Structural impairment of the titin spring is a likely cause of arrhythmogenic right ventricular cardiomyopahty and constitutes a novel mechanism underlying myocardial remodeling and sudden cardiac death. - pmids: - - "21810661" - - text: octamer structure studies by small-angle x-ray scattering and single-molecule force spectroscopy - pmids: - - "21728583" - - text: This study reports the characterization of both the expressed immunogenic domain and characterizes in more detail the cDNA and the specific antibody titin interactions involved in autoimmune rippling muscle disease. - pmids: - - "21741357" - - text: "The giant protein titin: a regulatory node that integrates myocyte signaling pathways" - pmids: - - "21257761" - - text: "The anti-titin monoclonal antibody could be a valuable tool in the study of titin function and its subcellular location, both in muscle and non-muscle cells." - pmids: - - "21050039" - - text: a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described - pmids: - - "20571043" - - text: This study evaluated the role of the main immunogenic region (MIR) of titin in MGT pathogenesis myasthenia gravis (MG) patients with thymoma. - pmids: - - "20926005" - - text: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) - pmids: - - "20952631" - - text: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) - pmids: - - "20808825" - - text: Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. - pmids: - - "20634290" - - text: "Recent titin data is reviewed and its implications for sarcomere architecture and elasticity, are discussed." - pmids: - - "20625501" - - text: Results describe the molecular basis for the head-to-tail interaction of the carboxyl terminus of titin and the amino-terminus of obscurin-like-1 by X-ray crystallography. - pmids: - - "20489725" - - text: analysis of sequence conservation in FnIII domains from A-band titin points to the existence of conformationally defined interfaces at specific superrepeat positio - pmids: - - "20542041" - - text: "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" - pmids: - - "20628086" - - text: the first Italian cases of TTN mutated titinopathy - pmids: - - "19911250" - - text: "Review recent findings on the structure, molecular associations, and mechanics of titin's Z-disk region, and report experimental results on the dynamic strength of titin's Z1Z2 domains." - pmids: - - "20414364" - - text: "Using the actin-severing protein gelsolin, we obtained evidence that titin-actin interaction contributes significantly to passive myocardial stiffness." - pmids: - - "20414336" - - text: role in diastolic heart function whereby passive stiffness can be fine tuned - pmids: - - "20479164" - - text: Heterogeneous conservation in dynamics of the titin Ig domains. - pmids: - - "20171214" - - text: "disulfide bonding occurring in titin's N2-B unique sequence, but not the Ig domains, may play a role in the increased global passive stiffness of the heart seen in various pathological conditions" - pmids: - - "19651040" - - text: Data indicate that the mechanical properties of each domain are well conserved and tailored to its unique position in the titin molecule. - pmids: - - "19003986" - - text: "Report PKC phosphorylation of titin's PEVK element: a novel and conserved pathway for modulating myocardial stiffness." - pmids: - - "19679839" - - text: The complex between the muscle proteins titin and telethonin forms a highly directed molecular bond. - pmids: - - "19622741" - - text: "Single molecule force spectroscopy of the cardiac titin N2B element: effects of the molecular chaperone alphaB-crystallin with disease-causing mutations." - pmids: - - "19282282" - - text: Hypophosphorylation of the Stiff N2B titin isoform raises cardiomyocyte resting tension in failing human myocardium. - pmids: - - "19179657" - - text: Tibial muscular dystrophy patients with truncating mutations in C-terminal titin show a more severe phenotype with earlier onset implying a genotype-phenotype correlation. - pmids: - - "18948003" - - text: "S469 near the COOH terminus of the cardiac N2-B-unique sequence (N2-Bus) is a PKG & PKA phosphorylation site. cGMP-PKG increased the bending rigidity of the N2-Bus, explaining the overall PKG-mediated decrease in cardiomyofibrillar stiffness." - pmids: - - "19023132" - - text: "rate-limiting step of the global unfolding upon import into mitochondria switches, depending on the balance between the stability of the N-terminal structure and the stability of the core region of the titin I27 domain" - pmids: - - "19013176" - - text: Observational study of gene-disease association. (HuGE Navigator) - pmids: - - "19913121" - - "19608031" - - "19134271" - - text: "Our results indicate that although at low levels, titin is expressed in cartilage." - pmids: - - "17920806" - - text: two sm-titin Zq domains interact with each other and with the two R2-R3 sites in the alpha-actinin central rod - pmids: - - "18519573" - - text: A mechanistic model of titin is proposed based on freely jointed rigid segments that rationalizes the response to stretch of titin immunoglobulin (Ig)-tandems according to molecular features. - pmids: - - "18212128" - - text: "Spectrin-titin domain pairs of both spectrin R16 and R17 with a single titin I27 domain at either the N- or the C-terminus were created and found that spectrin domains are significantly stabilized, by nonnative interactions at the C-terminus only." - pmids: - - "17890397" - - text: the motor protein SecA plays an important and decisive role in promoting unfolding of the titin I27 domain - pmids: - - "17669421" - - text: biophysical analysis of the elasticity of titin Z1Z2 and a titin chain model - pmids: - - "17496052" - - text: titin splice diversity regulates structure and biomechanics of the sarcomere - pmids: - - "17522126" - - text: "the molecular structure of a tandem arrangement of two immunoglobulin-like domains, A168 and A169, located within the A-band segment of titin" - pmids: - - "17574571" - - text: biophysical analysis of the PEVK domain of skeletal-muscle titin - pmids: - - "15849252" - - text: Titin is a giant scaffold for integrating stress and Src homology domain 3-mediated signaling pathways - pmids: - - "16766517" - - text: These results suggest that differential expression of titin gene exons in nonmuscle cells yields multiple novel isoforms of the protein c-titin that are associated with the actin stress fiber structures. - pmids: - - "17366640" - - text: The more compliant titin N2BA isoform predominates in hearts with dilated cardiomyopathy. Changes in titin isoform expression impact diastolic filling by lowering myocardial stiffness. Altered titin expression may affect cell signaling & gene expression. - pmids: - - "15238456" - - text: biophysical analysis of the end-to-end length of the transition state before unfolding and the measured contour length per amino acid of human titin - pmids: - - "17028145" - - text: C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopaty. - pmids: - - "17444505" - - text: "structural and functional studies of titin's fn3 modules reveal conserved surface patterns and binding to myosin S1--a possible role in the Frank-Starling mechanism of the heart" - pmids: - - "11800567" - - text: molecular mechanics of PEVK and N2B spring elements - pmids: - - "11799131" - - text: the PEVK segment contains E-rich motifs that render titin a calcium-dependent molecular spring that adapts to the physiological state of the cell - pmids: - - "14593205" - - text: "Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin." - pmids: - - "12145747" - - text: Titin plays a signaling role in targeting and orienting nebulin during sarcomere assembly - pmids: - - "12482578" - - text: mutation in the titin kinase domain disrupts nbr1 binding and leads to hereditary muscle disease - pmids: - - "15802564" - - text: adjacent domains in the I-band have very different kinetic properties which undergo only small changes in the presence of neighbouring domains; titin I-band behaves as the sum of its parts - pmids: - - "11812150" - - text: interaction of two N-terminal immunoglobulin with hydrophilic domain of small ankyrin-1 - pmids: - - "12444090" - - text: The behavior of the I27 domain of titin and its serial repeats is contrasted to that of simple secondary structures at various temperatures. - pmids: - - "15211512" - - text: Association of titin and myosin with microtubules in nascent myofibrils directed by MURF2 - pmids: - - "12414993" - - text: Titin PEVK conformation is malleable and responds to subtle environmental changes without co-operativity; this gradual conformational transition may represent a regulatory mechanism for fine-tuning protein interactions and elasticity. - pmids: - - "12816538" - - text: "alphaB-crystallin bound in the position of the N2B region of titin, but not to PEVK region" - pmids: - - "14676215" - - text: "PEVK exons encode polypeptides of similar elastic properties, unrelated to their total PEVK contents and hence, alternative splicing solely adjusts the length of the PEVK domain of titin." - pmids: - - "15632200" - - text: Results suggest that the C-terminus of nuclear titin binds lamins A and B in vivo and might contribute to nuclear organization during interphase. - pmids: - - "16410549" - - text: "The titin Z1Z2-telethonin complex resist considerable mechanical force through beta strand crosslinking, suggesting that telethonin is an important component of the N-terminal titin anchor." - pmids: - - "16531234" - - text: "A dimer of two titin/telethonin complexes is formed within the crystal environment, potentially indicating the formation of higher oligomers." - pmids: - - "16713295" - - text: Mitotic spindle staining with antititin antibodies is due to the association of titin or a titin-like molecule with this structure. - pmids: - - "11746675" - - text: "protein engineering and single-molecule AFM examination of mechanical components that form elastic region of human cardiac titin; when these mechanical elements are combined, they explain the macroscopic behaviour of titin in intact muscle" - pmids: - - "12198551" - - text: The cDNA sequence of cardiac TTN isoform was determined. No differences were found between the N2B PRVK lengths in heart muscle. New N2BA splicing pathways in the first tandem Ig region were found. PEVK exon expression was also different. - pmids: - - "12785098" - - text: Cardiomyopathy-associated point mutations in titin affect its binding to FHL2 protein. Altered recruitment of metabolic enzymes to the sarcomere via FHL2 may play a role in the pathogenesis of cardiomyopathies. - pmids: - - "16465475" - - text: "The PEVK segment of titin is not a simple entropic spring as is commonly assumed, but a highly evolved, gel-like enthalpic spring with its elasticity dominated by the sequence-specific charge interactions." - pmids: - - "16465472" - - text: Titin mutations as the molecular basis for dilated cardiomyopathy - pmids: - - "11846417" - - text: expression of titin isoforms switch in ischemic human heart disease - pmids: - - "12221049" - - text: "summary of the Ig and Fn3 domains of titin [review]" - pmids: - - "15322090" - - text: "Both control & dilated cardiomyopathy hearts coexpressed smaller (~ 3 MDa) N2B-isoform & longer (3.20 to 3.35 MDa) N2BA-isoforms. The average N2BA:N2B-ratio shifted from ~ 30:70 in controls to 42:58 in DCM, due to more N2BA-isoforms >3.30 MDa." - pmids: - - "15345656" - - text: Mutations in titin may account for a significant portion of the genetic etiology in familial DCM. - pmids: - - "16733766" - - text: titin is a good candidate gene on chromosome 2q31.1 for the SV50 training response in white HERITAGE families - pmids: - - "12865504" - - text: analysis of actin binding along the PEVK domain of skeletal muscle titin - pmids: - - "15507486" - - text: the importance of p94-connectin interaction in the control of p94 functions by regulating autolytic decay of p94 - pmids: - - "16627476" - - text: This suggests that the titin Z2-Zis1 domain can link filamins and alpha-actinin together in the periphery of the Z-line/dense bodies in a fashion that is conserved in smooth and striated muscles. - pmids: - - "16949617" - - text: Molecular modeling is used to characterize the reversible unfolding of titin immunoglobulin domains I27 and I1. - pmids: - - "12785101" - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap deleted file mode 100644 index 9d66747c..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap +++ /dev/null @@ -1,355 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- gene_symbol: A4GALT - ncbi_gene_id: "53947" - genomic_location: "chr22:43088121-43117307" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: ~ - triplosensitivity_disease_id: ~ -- gene_symbol: AAGAB - ncbi_gene_id: "79719" - genomic_location: "chr15:67493013-67547536" - haploinsufficiency_score: 3 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0007858" - triplosensitivity_disease_id: ~ -- gene_symbol: AARS1 - ncbi_gene_id: "16" - genomic_location: "chr16:70286297-70323412" - haploinsufficiency_score: 0 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: ~ - triplosensitivity_disease_id: ~ -- gene_symbol: AARS2 - ncbi_gene_id: "57505" - genomic_location: "chr6:44266463-44281063" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0014387" - triplosensitivity_disease_id: ~ -- gene_symbol: AASS - ncbi_gene_id: "10157" - genomic_location: "chr7:121713598-121784344" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0009388" - triplosensitivity_disease_id: ~ -- gene_symbol: ABAT - ncbi_gene_id: "18" - genomic_location: "chr16:8768444-8878432" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0013166" - triplosensitivity_disease_id: ~ -- gene_symbol: ABCB11 - ncbi_gene_id: "8647" - genomic_location: "chr2:169779449-169887833" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0011156" - triplosensitivity_disease_id: ~ -- gene_symbol: ABCC8 - ncbi_gene_id: "6833" - genomic_location: "chr11:17414432-17498392" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0009734" - triplosensitivity_disease_id: ~ -- gene_symbol: ABCD1 - ncbi_gene_id: "215" - genomic_location: "chrX:152990323-153010216" - haploinsufficiency_score: 3 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0018544" - triplosensitivity_disease_id: ~ -- gene_symbol: ABCG5 - ncbi_gene_id: "64240" - genomic_location: "chr2:44039611-44065958" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0020747" - triplosensitivity_disease_id: ~ -- gene_symbol: ABCG8 - ncbi_gene_id: "64241" - genomic_location: "chr2:44066103-44105605" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0020747" - triplosensitivity_disease_id: ~ -- gene_symbol: ABHD12 - ncbi_gene_id: "26090" - genomic_location: "chr20:25275379-25371618" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0012984" - triplosensitivity_disease_id: ~ -- gene_symbol: ABR - ncbi_gene_id: "29" - genomic_location: "chr17:906758-1132974" - haploinsufficiency_score: 0 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: ~ - triplosensitivity_disease_id: ~ -- gene_symbol: ABRAXAS1 - ncbi_gene_id: "84142" - genomic_location: "chr4:84382092-84406331" - haploinsufficiency_score: 0 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: ~ - triplosensitivity_disease_id: ~ -- gene_symbol: ACAD8 - ncbi_gene_id: "27034" - genomic_location: "chr11:134123434-134135749" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0012648" - triplosensitivity_disease_id: ~ -- gene_symbol: ACADM - ncbi_gene_id: "34" - genomic_location: "chr1:76190032-76229364" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0008721" - triplosensitivity_disease_id: ~ -- gene_symbol: ACADSB - ncbi_gene_id: "36" - genomic_location: "chr10:124768429-124817806" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0012392" - triplosensitivity_disease_id: ~ -- gene_symbol: ACADVL - ncbi_gene_id: "37" - genomic_location: "chr17:7120444-7128586" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0008723" - triplosensitivity_disease_id: ~ -- gene_symbol: ACD - ncbi_gene_id: "65057" - genomic_location: "chr16:67691415-67694718" - haploinsufficiency_score: 1 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: ~ - triplosensitivity_disease_id: ~ -- gene_symbol: ACOX1 - ncbi_gene_id: "51" - genomic_location: "chr17:73937588-73975515" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0009919" - triplosensitivity_disease_id: ~ -- gene_symbol: ACP5 - ncbi_gene_id: "54" - genomic_location: "chr19:11685475-11689823" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0011939" - triplosensitivity_disease_id: ~ -- gene_symbol: ACSF3 - ncbi_gene_id: "197322" - genomic_location: "chr16:89160217-89222254" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0013661" - triplosensitivity_disease_id: ~ -- gene_symbol: ACSL4 - ncbi_gene_id: "2182" - genomic_location: "chrX:108884559-108976632" - haploinsufficiency_score: 1 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0010313" - triplosensitivity_disease_id: ~ -- gene_symbol: ACTA2 - ncbi_gene_id: "59" - genomic_location: "chr10:90694831-90751154" - haploinsufficiency_score: 1 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: ~ - triplosensitivity_disease_id: ~ -- gene_symbol: ACTB - ncbi_gene_id: "60" - genomic_location: "chr7:5566779-5570232" - haploinsufficiency_score: 0 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0000508" - triplosensitivity_disease_id: ~ -- gene_symbol: ACTC1 - ncbi_gene_id: "70" - genomic_location: "chr15:35080297-35087927" - haploinsufficiency_score: 1 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: ~ - triplosensitivity_disease_id: ~ -- gene_symbol: ACTL6B - ncbi_gene_id: "51412" - genomic_location: "chr7:100240720-100254084" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0100062" - triplosensitivity_disease_id: ~ -- gene_symbol: ACVRL1 - ncbi_gene_id: "94" - genomic_location: "chr12:52301202-52317145" - haploinsufficiency_score: 3 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0010880" - triplosensitivity_disease_id: ~ -- gene_symbol: ADA2 - ncbi_gene_id: "51816" - genomic_location: "chr22:17659680-17702744" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0014306" - triplosensitivity_disease_id: ~ -- gene_symbol: ADAM9 - ncbi_gene_id: "8754" - genomic_location: "chr8:38854505-38962780" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0013002" - triplosensitivity_disease_id: ~ -- gene_symbol: ADAMTS13 - ncbi_gene_id: "11093" - genomic_location: "chr9:136279459-136324525" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0010122" - triplosensitivity_disease_id: ~ -- gene_symbol: ADAMTS17 - ncbi_gene_id: "170691" - genomic_location: "chr15:100511643-100882210" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0013176" - triplosensitivity_disease_id: ~ -- gene_symbol: ADAMTS18 - ncbi_gene_id: "170692" - genomic_location: "chr16:77316025-77469011" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0014195" - triplosensitivity_disease_id: ~ -- gene_symbol: ADAMTS2 - ncbi_gene_id: "9509" - genomic_location: "chr5:178537852-178772431" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0009161" - triplosensitivity_disease_id: ~ -- gene_symbol: ADAMTSL2 - ncbi_gene_id: "9719" - genomic_location: "chr9:136397286-136440641" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0009269" - triplosensitivity_disease_id: ~ -- gene_symbol: ADGRG1 - ncbi_gene_id: "9289" - genomic_location: "chr16:57653605-57698951" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0011738" - triplosensitivity_disease_id: ~ -- gene_symbol: ADGRV1 - ncbi_gene_id: "84059" - genomic_location: "chr5:89854617-90460033" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0016484" - triplosensitivity_disease_id: ~ -- gene_symbol: ADNP - ncbi_gene_id: "23394" - genomic_location: "chr20:49505455-49547750" - haploinsufficiency_score: 3 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0014379" - triplosensitivity_disease_id: ~ -- gene_symbol: ADSL - ncbi_gene_id: "158" - genomic_location: "chr22:40742504-40762752" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0007068" - triplosensitivity_disease_id: ~ -- gene_symbol: AFF2 - ncbi_gene_id: "2334" - genomic_location: "chrX:147582139-148082193" - haploinsufficiency_score: 3 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0010659" - triplosensitivity_disease_id: ~ -- gene_symbol: AGA - ncbi_gene_id: "175" - genomic_location: "chr4:178351928-178363657" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0008830" - triplosensitivity_disease_id: ~ -- gene_symbol: AGK - ncbi_gene_id: "55750" - genomic_location: "chr7:141251078-141354209" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0008922" - triplosensitivity_disease_id: ~ -- gene_symbol: AGPAT2 - ncbi_gene_id: "10555" - genomic_location: "chr9:139567595-139581911" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0012071" - triplosensitivity_disease_id: ~ -- gene_symbol: AGRN - ncbi_gene_id: "375790" - genomic_location: "chr1:955503-991499" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0014052" - triplosensitivity_disease_id: ~ -- gene_symbol: AGT - ncbi_gene_id: "183" - genomic_location: "chr1:230838269-230850336" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0009970" - triplosensitivity_disease_id: ~ -- gene_symbol: AGTR2 - ncbi_gene_id: "186" - genomic_location: "chrX:115301958-115306225" - haploinsufficiency_score: 0 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0010454" - triplosensitivity_disease_id: ~ -- gene_symbol: AGXT - ncbi_gene_id: "189" - genomic_location: "chr2:241808162-241818536" - haploinsufficiency_score: 30 - triplosensitivity_score: ~ - haploinsufficiency_disease_id: "MONDO:0009823" - triplosensitivity_disease_id: ~ -- gene_symbol: AHCY - ncbi_gene_id: "191" - genomic_location: "chr20:32868071-32899608" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0013404" - triplosensitivity_disease_id: ~ -- gene_symbol: AHDC1 - ncbi_gene_id: "27245" - genomic_location: "chr1:27860756-27930143" - haploinsufficiency_score: 3 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0014358" - triplosensitivity_disease_id: ~ -- gene_symbol: AHI1 - ncbi_gene_id: "54806" - genomic_location: "chr6:135605110-135818903" - haploinsufficiency_score: 30 - triplosensitivity_score: 0 - haploinsufficiency_disease_id: "MONDO:0012078" - triplosensitivity_disease_id: ~ - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap deleted file mode 100644 index 648ca1ea..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap +++ /dev/null @@ -1,302 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- gene_name: BRAF - ensembl_gene: ENSG00000157764 - chr: "7" - gene_old_names: "." - gene_other_names: BRAF1 - uniprot_acc: P15056 - uniprot_id: BRAF_HUMAN - entrez_gene_id: "673" - ccds_id: CCDS5863;CCDS87555 - refseq_id: NM_004333;NM_001354609 - ucsc_id: uc003vwc.5 - mim_id: "164757" - omim_id: "164757" - gene_full_name: "B-Raf proto-oncogene, serine/threonine kinase" - pathway_uniprot: "." - pathway_biocarta_short: mapkPathway - pathway_biocarta_full: MAPKinase Signaling Pathway - pathway_consensus_path_db: "Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Focal adhesion - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Melanoma - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Long-term depression - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Prostate cancer - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;Intracellular Signalling Through Adenosine Receptor A2b and Adenosine;Intracellular Signalling Through Adenosine Receptor A2a and Adenosine;EGF-Core;Integrin-mediated Cell Adhesion;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Signaling Pathways in Glioblastoma;B Cell Receptor Signaling Pathway;Corticotropin-releasing hormone signaling pathway;Integrated Lung Cancer Pathway;Polycystic Kidney Disease Pathway;Bladder Cancer;Focal Adhesion;BDNF-TrkB Signaling;MAPK Signaling Pathway;Chemokine signaling pathway;ESC Pluripotency Pathways;Endometrial cancer;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;Senescence and Autophagy in Cancer;Estrogen signaling pathway;Serotonin HTR1 Group and FOS Pathway;Serotonin Receptor 4-6-7 and NR3C Signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2;MAP2K and MAPK activation;RAF activation;Disease;Negative regulation of FGFR3 signaling;Signaling by FGFR3;Signal Transduction;Negative regulation of FGFR4 signaling;Signaling by FGFR4;Signaling by FGFR;Spry regulation of FGF signaling;B cell receptor signaling;GPCR Adenosine A2A receptor;GPCR GroupI metabotropic glutamate receptor;GPCR signaling-G alpha q;CD4 T cell receptor signaling-ERK cascade;ARMS-mediated activation;IGF signaling;FGF;Negative feedback regulation of MAPK pathway;Neuronal System;GPCR signaling-G alpha s Epac and ERK;Signalling to p38 via RIT and RIN;IL-7 signaling;GPCR signaling-G alpha s PKA and ERK;Frs2-mediated activation;Prolonged ERK activation events;Signalling to ERKs;Signaling by NTRK1 (TRKA);Integrin;Signaling by NTRKs;EGFR1;Ras signaling in the CD4+ TCR pathway;ErbB1 downstream signaling;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;NGF;EPO signaling;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;CREB phosphorylation through the activation of Ras;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;VEGF;Signaling by high-kinase activity BRAF mutants;Signaling by moderate kinase activity BRAF mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;mTOR signaling pathway;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;CDC42 signaling events;Downstream signaling in naïve CD8+ T cells;Signaling events mediated by focal adhesion kinase;PDGFR-beta signaling pathway;Trk receptor signaling mediated by the MAPK pathway;Signaling events mediated by VEGFR1 and VEGFR2;Negative regulation of FGFR1 signaling;Signaling by FGFR1;CD4 T cell receptor signaling" - pathway_kegg_id: hsa04010;hsa04012;hsa04150;hsa04510;hsa04650;hsa04720;hsa04730;hsa04810;hsa04910;hsa05210;hsa05211;hsa05212;hsa05213;hsa05214;hsa05215;hsa05216;hsa05218;hsa05219;hsa05220;hsa05221;hsa05223 - pathway_kegg_full: MAPK signaling pathway;ErbB signaling pathway;mTOR signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;Long-term potentiation;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer - function_description: "FUNCTION: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway. {ECO:0000269|PubMed:21441910}." - disease_description: "DISEASE: Note=Defects in BRAF are found in a wide range of cancers. {ECO:0000269|PubMed:18974108}.;DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:21917714, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}. Note=The disease may be caused by mutations affecting the gene represented in this entry.;DISEASE: Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. {ECO:0000269|PubMed:12460919}. Note=The gene represented in this entry is involved in disease pathogenesis.;DISEASE: Familial non-Hodgkin lymphoma (NHL) [MIM:605027]: Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss. {ECO:0000269|PubMed:14612909}. Note=The gene represented in this entry is involved in disease pathogenesis.;DISEASE: Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]: A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Noonan syndrome 7 (NS7) [MIM:613706]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: LEOPARD syndrome 3 (LPRD3) [MIM:613707]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. {ECO:0000269|PubMed:18974108}." - mim_phenotype_id: 114500;115150;211980;605027;613706;613707 - mim_disease: "[MIM:114500]Colorectal cancer;[MIM:211980]Lung cancer;[MIM:605027]Familial non-Hodgkin lymphoma;[MIM:115150]Cardiofaciocutaneous syndrome 1;[MIM:613706]Noonan syndrome 7;[MIM:613707]LEOPARD syndrome 3" - orphanet_disorder_id: 648;146;500;1340;251615;251615;357191;357194;58017;54595;99872 - orphanet_disorder: Noonan syndrome;Differentiated thyroid carcinoma;Noonan syndrome with multiple lentigines;Cardiofaciocutaneous syndrome;Pilomyxoid astrocytoma;Pilomyxoid astrocytoma;Selection of therapeutic option in non-small cell lung carcinoma;Selection of therapeutic option in colorectal cancer;Classic hairy cell leukemia;Craniopharyngioma;Hashimoto-Pritzker syndrome - orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (gain of function) in;Disease-causing somatic mutation(s) in;Part of a fusion gene in;Biomarker tested in;Biomarker tested in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in - trait_association_gwas: "Mild influenza (H1N1) infection[26379185];Type 2 diabetes[28869590;28869590];Cerebrospinal T-tau levels[26252872];Cerebrospinal fluid t-tau:AB1-42 ratio[26252872];Response to Vitamin E supplementation[22437554]" - hpo_id: "HP:0000465;HP:0000316;HP:0003006;HP:0000508;HP:0001634;HP:0010318;HP:0006695;HP:0008625;HP:0003298;HP:0002650;HP:0002617;HP:0000768;HP:0000144;HP:0007392;HP:0100542;HP:0001608;HP:0001263;HP:0001641;HP:0000974;HP:0011710;HP:0000767;HP:0001003;HP:0000028;HP:0004322;HP:0001658;HP:0000912;HP:0001511;HP:0002863;HP:0000047;HP:0001480;HP:0001482;HP:0001639;HP:0001642;HP:0002861;HP:0004306;HP:0000431;HP:0004414;HP:0011675;HP:0000248;HP:0000995;HP:0000368;HP:0001256;HP:0003691;HP:0000325;HP:0000238;HP:0000545;HP:0006191;HP:0001004;HP:0000637;HP:0000974;HP:0004422;HP:0000504;HP:0200102;HP:0000293;HP:0000316;HP:0000028;HP:0008070;HP:0000343;HP:0000391;HP:0002857;HP:0000348;HP:0000958;HP:0000276;HP:0000256;HP:0001654;HP:0000982;HP:0001639;HP:0008064;HP:0001252;HP:0002213;HP:0000508;HP:0005280;HP:0000470;HP:0007565;HP:0000463;HP:0002650;HP:0004322;HP:0008872;HP:0001582;HP:0002217;HP:0001048;HP:0000400;HP:0002120;HP:0010669;HP:0002299;HP:0001531;HP:0001263;HP:0000767;HP:0001622;HP:0000639;HP:0000486;HP:0002997;HP:0001249;HP:0001631;HP:0007392;HP:0000176;HP:0000494;HP:0000286;HP:0002967;HP:0012719;HP:0000465;HP:0003196;HP:0000126;HP:0001642;HP:0100840;HP:0000218;HP:0001260;HP:0009891;HP:0001003;HP:0007440;HP:0002007;HP:0002353;HP:0000368;HP:0002162;HP:0008391;HP:0000648;HP:0000280;HP:0001428;HP:0006519;HP:0000006;HP:0000007;HP:0010807;HP:0000463;HP:0001047;HP:0000194;HP:0001631;HP:0000520;HP:0000494;HP:0001249;HP:0001252;HP:0004322;HP:0008064;HP:0008113;HP:0002002;HP:0000639;HP:0000962;HP:0004209;HP:0009891;HP:0002217;HP:0007333;HP:0001290;HP:0003196;HP:0000689;HP:0011220;HP:0001250;HP:0000316;HP:0000767;HP:0001003;HP:0000286;HP:0009908;HP:0000268;HP:0000657;HP:0000369;HP:0007370;HP:0000938;HP:0001276;HP:0002120;HP:0008070;HP:0001642;HP:0005280;HP:0000768;HP:0001508;HP:0000126;HP:0008872;HP:0000414;HP:0001744;HP:0000341;HP:0002212;HP:0000486;HP:0002013;HP:0000545;HP:0001187;HP:0000508;HP:0000006;HP:0000238;HP:0001639;HP:0006114;HP:0000529;HP:0100703;HP:0001048;HP:0001622;HP:0000218;HP:0003477;HP:0000280;HP:0002020;HP:0000176;HP:0000358;HP:0000365;HP:0032152;HP:0000561;HP:0003577;HP:0001093;HP:0002019;HP:0001561;HP:0002223;HP:0000164;HP:0004482;HP:0000347;HP:0002750;HP:0002750;HP:0000369;HP:0000962;HP:0000470;HP:0001319;HP:0001646;HP:0007565;HP:0000006;HP:0001249;HP:0001633;HP:0001054;HP:0100543;HP:0000358;HP:0000407;HP:0000914;HP:0001250;HP:0000465;HP:0000316;HP:0001636;HP:0002212;HP:0004322;HP:0001003;HP:0005280;HP:0001249;HP:0001262;HP:0002637;HP:0001658;HP:0002516;HP:0008897;HP:0010939;HP:0001085;HP:0001259;HP:0000365;HP:0000823;HP:0002659;HP:0002719;HP:0002591;HP:0010576;HP:0012505;HP:0002315;HP:0011734;HP:0007987;HP:0002321;HP:0005978;HP:0030588;HP:0011750;HP:0002017;HP:0007924;HP:0012286;HP:0000044;HP:0430000;HP:0000870;HP:0008245;HP:0001513;HP:0001117;HP:0001250;HP:0002514;HP:0001263;HP:0000863;HP:0010535;HP:0030521;HP:0000238;HP:0000648;HP:0003508;HP:0001290;HP:0011470;HP:0004322;HP:0000369;HP:0001252;HP:0000268;HP:0005280;HP:0001520;HP:0000470;HP:0001250;HP:0011220;HP:0002967;HP:0012059;HP:0000341;HP:0000975;HP:0000465;HP:0000914;HP:0012471;HP:0009748;HP:0000494;HP:0000391;HP:0000768;HP:0030939;HP:0031162;HP:0000006;HP:0002033;HP:0001249;HP:0000306;HP:0006191;HP:0002162;HP:0008872;HP:0000316;HP:0001054;HP:0000486;HP:0000767;HP:0000953;HP:0000768;HP:0100543;HP:0002212;HP:0001382;HP:0002015;HP:0001642;HP:0000256;HP:0001642;HP:0002031;HP:0001631;HP:0000953;HP:0002650;HP:0001631;HP:0002650;HP:0001531;HP:0000508;HP:0000470;HP:0001156;HP:0000914;HP:0002664;HP:0003251;HP:0001680;HP:0002751;HP:0001642;HP:0000218;HP:0000325;HP:0004322;HP:0000028;HP:0001643;HP:0002967;HP:0000316;HP:0000006;HP:0000494;HP:0000917;HP:0000407;HP:0000286;HP:0002705;HP:0000915;HP:0000925;HP:0001004;HP:0001629;HP:0000476;HP:0000465;HP:0001249;HP:0100697;HP:0000545;HP:0004841;HP:0000368;HP:0030084;HP:0000689;HP:0002162;HP:0100769;HP:0009466;HP:0000135;HP:0001631;HP:0008897;HP:0001892;HP:0004859;HP:0001639;HP:0001425;HP:0008357;HP:0000347" - hpo_name: "Webbed neck;Hypertelorism;Neuroblastoma;Ptosis;Mitral valve prolapse;Aplasia/Hypoplasia of the abdominal wall musculature;Atrioventricular canal defect;Severe sensorineural hearing impairment;Spina bifida occulta;Scoliosis;Dilatation;Pectus carinatum;Decreased fertility;Excessive wrinkled skin;Abnormal localization of kidney;Abnormality of the voice;Global developmental delay;Abnormal pulmonary valve morphology;Hyperextensible skin;Bundle branch block;Pectus excavatum;Multiple lentigines;Cryptorchidism;Short stature;Myocardial infarction;Sprengel anomaly;Intrauterine growth retardation;Myelodysplasia;Hypospadias;Freckling;Subcutaneous nodule;Hypertrophic cardiomyopathy;Pulmonic stenosis;Melanoma;Abnormal endocardium morphology;Wide nasal bridge;Abnormality of the pulmonary artery;Arrhythmia;Brachycephaly;Melanocytic nevus;Low-set, posteriorly rotated ears;Intellectual disability, mild;Scapular winging;Triangular face;Hydrocephalus;Myopia;Deep palmar crease;Lymphedema;Long palpebral fissure;Hyperextensible skin;Biparietal narrowing;Abnormality of vision;Sparse or absent eyelashes;Full cheeks;Hypertelorism;Cryptorchidism;Sparse hair;Long philtrum;Thickened helices;Genu valgum;High forehead;Dry skin;Long face;Macrocephaly;Abnormal heart valve morphology;Palmoplantar keratoderma;Hypertrophic cardiomyopathy;Ichthyosis;Muscular hypotonia;Fine hair;Ptosis;Depressed nasal bridge;Short neck;Multiple cafe-au-lait spots;Anteverted nares;Scoliosis;Short stature;Feeding difficulties in infancy;Redundant skin;Slow-growing hair;Cavernous hemangioma;Macrotia;Cerebral cortical atrophy;Hypoplasia of the zygomatic bone;Brittle hair;Failure to thrive in infancy;Global developmental delay;Pectus excavatum;Premature birth;Nystagmus;Strabismus;Abnormality of the ulna;Intellectual disability;Atrial septal defect;Excessive wrinkled skin;Submucous cleft hard palate;Downslanted palpebral fissures;Epicanthus;Cubitus valgus;Functional abnormality of the gastrointestinal tract;Webbed neck;Short nose;Hydronephrosis;Pulmonic stenosis;Aplasia/Hypoplasia of the eyebrow;High palate;Dysarthria;Underdeveloped supraorbital ridges;Multiple lentigines;Generalized hyperpigmentation;Frontal bossing;EEG abnormality;Low-set, posteriorly rotated ears;Low posterior hairline;Dystrophic fingernails;Optic atrophy;Coarse facial features;Somatic mutation;Alveolar cell carcinoma;Autosomal dominant inheritance;Autosomal recessive inheritance;Open bite;Anteverted nares;Atopic dermatitis;Open mouth;Atrial septal defect;Proptosis;Downslanted palpebral fissures;Intellectual disability;Muscular hypotonia;Short stature;Ichthyosis;Multiple plantar creases;Deep philtrum;Nystagmus;Hyperkeratosis;Clinodactyly of the 5th finger;Underdeveloped supraorbital ridges;Slow-growing hair;Hypoplasia of the frontal lobes;Generalized hypotonia;Short nose;Dental malocclusion;Prominent forehead;Seizure;Hypertelorism;Pectus excavatum;Multiple lentigines;Epicanthus;Anterior creases of earlobe;Dolichocephaly;Oculomotor apraxia;Low-set ears;Aplasia/Hypoplasia of the corpus callosum;Osteopenia;Hypertonia;Cerebral cortical atrophy;Sparse hair;Pulmonic stenosis;Depressed nasal bridge;Pectus carinatum;Failure to thrive;Hydronephrosis;Feeding difficulties in infancy;Bulbous nose;Splenomegaly;Narrow forehead;Curly hair;Strabismus;Vomiting;Myopia;Hyperextensibility of the finger joints;Ptosis;Autosomal dominant inheritance;Hydrocephalus;Hypertrophic cardiomyopathy;Multiple palmar creases;Progressive visual loss;Tongue thrusting;Cavernous hemangioma;Premature birth;High palate;Peripheral axonal neuropathy;Coarse facial features;Gastroesophageal reflux;Submucous cleft hard palate;Posteriorly rotated ears;Hearing impairment;Keratosis pilaris;Absent eyelashes;Congenital onset;Optic nerve dysplasia;Constipation;Polyhydramnios;Absent eyebrow;Abnormality of the dentition;Relative macrocephaly;Micrognathia;Delayed skeletal maturation;Delayed skeletal maturation;Low-set ears;Hyperkeratosis;Short neck;Neonatal hypotonia;Abnormal aortic valve morphology;Multiple cafe-au-lait spots;Autosomal dominant inheritance;Intellectual disability;Abnormal mitral valve morphology;Numerous nevi;Cognitive impairment;Posteriorly rotated ears;Sensorineural hearing impairment;Shield chest;Seizure;Webbed neck;Hypertelorism;Tetralogy of Fallot;Curly hair;Short stature;Multiple lentigines;Depressed nasal bridge;Intellectual disability;Excessive daytime somnolence;Cerebral ischemia;Myocardial infarction;Increased intracranial pressure;Postnatal growth retardation;Abnormality of the nasal bone;Papilledema;Coma;Hearing impairment;Delayed puberty;Increased susceptibility to fractures;Recurrent infections;Polyphagia;Intracranial cystic lesion;Enlarged pituitary gland;Headache;Central adrenal insufficiency;Progressive visual field defects;Vertigo;Type II diabetes mellitus;Abnormal visual field test;Neoplasm of the anterior pituitary;Nausea and vomiting;Slow decrease in visual acuity;Abnormal hypothalamus morphology;Hypogonadotropic hypogonadism;Abnormality of the frontal bone;Increased circulating prolactin concentration;Pituitary hypothyroidism;Obesity;Sudden loss of visual acuity;Seizure;Cerebral calcification;Global developmental delay;Central diabetes insipidus;Sleep apnea;Bitemporal hemianopia;Hydrocephalus;Optic atrophy;Proportionate short stature;Generalized hypotonia;Nasogastric tube feeding in infancy;Short stature;Low-set ears;Muscular hypotonia;Dolichocephaly;Depressed nasal bridge;Large for gestational age;Short neck;Seizure;Prominent forehead;Cubitus valgus;Lentigo maligna melanoma;Narrow forehead;Hyperhidrosis;Webbed neck;Shield chest;Thick vermilion border;Large earlobe;Downslanted palpebral fissures;Thickened helices;Pectus carinatum;Palpebral thickening;Impaired oropharyngeal swallow response;Autosomal dominant inheritance;Poor suck;Intellectual disability;Abnormality of the chin;Deep palmar crease;Low posterior hairline;Feeding difficulties in infancy;Hypertelorism;Numerous nevi;Strabismus;Pectus excavatum;Hyperpigmentation of the skin;Pectus carinatum;Cognitive impairment;Curly hair;Joint hypermobility;Dysphagia;Pulmonic stenosis;Macrocephaly;Pulmonic stenosis;Abnormal esophagus morphology;Atrial septal defect;Hyperpigmentation of the skin;Scoliosis;Atrial septal defect;Scoliosis;Failure to thrive in infancy;Ptosis;Short neck;Brachydactyly;Shield chest;Neoplasm;Male infertility;Coarctation of aorta;Kyphoscoliosis;Pulmonic stenosis;High palate;Triangular face;Short stature;Cryptorchidism;Patent ductus arteriosus;Cubitus valgus;Hypertelorism;Autosomal dominant inheritance;Downslanted palpebral fissures;Superior pectus carinatum;Sensorineural hearing impairment;Epicanthus;High, narrow palate;Pectus excavatum of inferior sternum;Abnormality of the vertebral column;Lymphedema;Ventricular septal defect;Cystic hygroma;Webbed neck;Intellectual disability;Neurofibrosarcoma;Myopia;Reduced factor XII activity;Low-set, posteriorly rotated ears;Clinodactyly;Dental malocclusion;Low posterior hairline;Synovitis;Radial deviation of finger;Hypogonadism;Atrial septal defect;Postnatal growth retardation;Abnormal bleeding;Amegakaryocytic thrombocytopenia;Hypertrophic cardiomyopathy;Heterogeneous;Reduced factor XIII activity;Micrognathia" - go_biological_process: "MAPK cascade;activation of MAPKK activity;myeloid progenitor cell differentiation;protein phosphorylation;visual learning;animal organ morphogenesis;positive regulation of gene expression;negative regulation of fibroblast migration;positive regulation of glucose transmembrane transport;thyroid gland development;positive regulation of peptidyl-serine phosphorylation;somatic stem cell population maintenance;cellular response to drug;regulation of cell population proliferation;negative regulation of apoptotic process;CD4-positive, alpha-beta T cell differentiation;CD4-positive or CD8-positive, alpha-beta T cell lineage commitment;response to peptide hormone;negative regulation of neuron apoptotic process;regulation of T cell differentiation;thymus development;positive regulation of axon regeneration;positive regulation of axonogenesis;T cell receptor signaling pathway;protein heterooligomerization;positive regulation of stress fiber assembly;response to cAMP;long-term synaptic potentiation;head morphogenesis;face development;positive regulation of ERK1 and ERK2 cascade;trehalose metabolism in response to stress;cellular response to calcium ion;establishment of protein localization to membrane;positive regulation of substrate adhesion-dependent cell spreading;cellular response to nerve growth factor stimulus;negative regulation of synaptic vesicle exocytosis;negative regulation of endothelial cell apoptotic process" - go_cellular_component: nucleus;mitochondrion;cytosol;plasma membrane;neuron projection;intracellular membrane-bounded organelle;cell body - go_molecular_function: protein kinase activity;protein serine/threonine kinase activity;MAP kinase kinase kinase activity;calcium ion binding;protein binding;ATP binding;small GTPase binding;mitogen-activated protein kinase kinase binding;identical protein binding;protein heterodimerization activity - tissue_specificity_uniprot: Brain and testis. - expression_egenetics: amygdala;spleen;liver;stomach;germinal center;testis;brain;unclassifiable (Anatomical System);lung;thyroid;whole body;frontal lobe;head and neck;placenta;islets of Langerhans - expression_gnf_atlas: pons;ciliary ganglion;dorsal root ganglion;atrioventricular node;superior cervical ganglion;trigeminal ganglion;testis - interactions_intact: "YWHAE[17979178];HSP90AB1[17979178;22939624];YWHAB[15324660;12620389;17353931;24255178];ARAF[17979178;25241761;20130576];HSD17B3[24412244];CTSV[24412244];IQGAP1[17563371];TIMM50[12620389];NRAS[21478863];YWHAQ[15324660;17353931;17979178];RPS6KA2[16810323];AKT1[25241761];OIP5[12620389];SFN[15778465];PAK2[20936779];HRAS[24441586;26165597];YWHAG[15324660;17353931;17979178];YWHAH[17979178];MAPK3[25241761];ZNF189[24412244];HSPA9[17979178];HSPA8[17979178];MAP2K1[17979178;24746704;25155755;25600339;26496610;23934108;25437913];MAP3K1[16810323;16888650];MAP2K2[17979178;24746704;25600339];HSPA5[17979178];KSR1[22510884];PRKCE[16810323];LIMK1[17979178];PRKCA[16810323];BRAF[16858395;22169110;22510884;25155755;19727074;25437913];PHKB[17979178];KSR2[22510884];TERF1[20936779];YWHAZ[15324660;17353931;15161933;17979178;26496610];CCDC88A[20936779];MAPKAPK3[24412244];TRAF3[23153539];CDC37[17979178];RAF1[20141835;22169110;22510884;23680146;25155755;20130576;23934108;26466569];FBP1[24412244];ZNF510[24412244];HSPA1A[17979178]" - interactions_biogrid: "ARAF[17979178;25241761;28514442;28628118];KIAA0141[28514442];EPRS[27684187];IGF1R[27684187];LIPF[26186194;28514442];RASSF1[28628118];STK11[28628118];FNTA[28319113];AKT1[10869359;25241761;28628118];CPNE3[27034005];PIP4K2C[27034005];MAP2K3[28628118];MAP2K1[16888650;20212043;18332145;16810323;17979178;26496610;28514442;19371126;26627737;27034005;27684187];MAP2K2[17979178;28514442;27034005];FKBPL[28514442];FBXW7[26898828];PRKCE[16810323];ARMCX3[28514442];CDC37[17979178;27034005;27684187];DNAJB11[27034005];RAF1[11325826;20212043;18332145;23153539;28514442];FKBP5[27034005];COPA[27034005];HSPA4L[27034005];NEDD4L[19953087];IQGAP1[18567582;27034005;27684187];PHB[27034005];RAP1GAP[11278445];HSP90B1[27034005];PLD2[27034005];RAP1B[27034005];HSD11B2[27034005];PRDX2[27684187];RAP1A[10454553;16507992];PDCD11[27034005];TERT[28628118];PIP5K1A[27034005];SFN[15778465;27034005;28628118;27684187];MAP2K7[27034005];MAP2K6[28628118];BRAP[18332145];HSPA9[17979178;27684187];HSPA8[17979178;27684187];HSPA5[17979178;27034005;27684187];JUP[27684187];HSPA4[27034005];DNAJC11[27034005];BRAF[17979178;28628118];PHKB[17979178];DNAJC13[27034005];DNAJC15[27034005];VANGL1[27034005];CCDC88A[20936779];CYLD[27591049];UBLCP1[27034005];FASN[27684187];GNAS[27034005];FARSA[27684187];FGFR2[28319113];YWHAE[17979178;28514442;27034005;27684187];MUS81[24104479];HSP90AB1[17979178;27684187];YWHAB[17353931;10931830;15324660;24255178;28514442;27034005;27684187];KCNC4[28514442];PTEN[28319113];HSPB1[27684187];BRCA2[28319113];RPTOR[28514442];PPP6C[27684187];YWHAQ[17353931;18332145;17979178;28514442;27034005;27684187];WDR6[27034005];HRAS[9154803;7706312;28514442;27034005;28628118];YWHAG[17353931;15324660;17979178;28514442;27034005;28628118;27684187];YWHAH[17979178;28514442;27034005];HSP90AA1[22939624;27034005;27684187];KSR1[18332145];PARP1[27684187];PGAM1[27034005];MYOF[27034005];NME2[27684187];TERF1[20936779];YWHAZ[17353931;15324660;17979178;26496610;28514442;27034005;28628118;27684187];MRAS[12138204];LATS2[28628118];PIK3CA[28319113];ALDOA[27684187];RAB1A[27684187];HDAC2[28319113];ATP5A1[27684187];EGFR[28319113];GNAI2[27034005];AURKA[28628118];PPP2CB[27034005];NRAS[7499408;27034005;9368069];DNAJB6[27034005];MAPK1[18567582;26627737;26285778];VHL[28319113];FNIP1[27353360];CCT7[27684187];PAK2[20936779];FNIP2[27353360];MAPK3[10869359;25241761];SSB[27684187];BAD[19667065];LIMK1[17979178];AP2B1[27684187];PPP1CA[27034005];DNAJA1[27034005];RAD50[27034005];RNF149[22628551];RPS6KB2[16810323;25324306];SPRY2[19690147];KRAS[28514442;27034005;28628118;27684187];VIM[27034005];RAB3GAP1[28514442];HSPA1A[17979178;27684187]" - interactions_consensus_path_db: "RAF1[0.999];IQGAP1[0.921];KRAS[0.999];RHEB[0.996];MAP2K1[NA];BRAP[NA];KSR1[NA];HRAS[0.999];RB1[0.012];MAP2K1[0.999];MAP2K1[NA];KSR1[NA];RAF1[NA];ARAF[NA];ARAF[0.238];NRAS[0.999];MAP2K1[NA];RAF1[NA];PRKCE[0.997];MAP3K1[0.999];RPS6KA2[0.992];YWHAB[0.997];YWHAQ[0.999];YWHAZ[0.999];PRKCA[0.999];SFN[0.851];YWHAG[0.982];OIP5[0.413];MRAS[0.999];SGK1[0.987];PRKACA[0.999];RPS6KB2[NA];PRKCE[NA];YWHAH[0.953];YWHAQ[NA];RAP1GAP[NA];EGFR[NA];CRK[NA];RAPGEF1[NA];FRS2[NA];RAP1GAP[NA];AKT1[0.999];MAP2K2[0.999];RAP1A[0.992];MAPK1[0.999];RAP1GAP[0.999];MAP2K1[NA];MAP2K2[NA];YWHAE[NA];RAF1[NA];MAP2K1[NA];YWHAE[NA];KSR1[NA];CNKSR1[0.978];YWHAZ[NA];RAF1[NA];PAK2[0.998];TERF1[0.532];CCDC88A[0.882];NEDD4L[0.604];RNF149[0.032];KSR1[0.928];BRAP[0.635];RPS6KB2[0.999];HSP90AA1[0.994];YWHAE[0.983];HSPA5[0.879];HSPA8[0.983];HSPA9[0.308];CDC37[0.982];HSP90AB1[0.989];PHKB[0.981];LIMK1[0.984];BAD[0.992];LIPF[0.005];MAPK3[0.999];FBXW7[0.966];FNIP1[0.976];FNIP2[0.978];RAB3GAP1[0.997];FKBPL[0.355];ARMCX3[0.034];KCNC4[0.629];RPTOR[0.965];CYLD[0.989];TIMM50[0.730];ZHX2[0.739];SGK2[0.078];SGK3[0.021];MAP4K1[0.094]" - haploinsufficiency: 0.95401 - hipred_score: 0.843373596668243 - hipred: Y - ghis: 0.558767686 - prec: "." - known_rec_info: "." - rvis_evs: -0.6 - rvis_percentile_evs: 17.75 - lof_fdr_exac: 0.0000945651 - rvis_exac: -0.965257977 - rvis_percentile_exac: 9.547617613 - exac_pli: 0.999978196041997 - exac_prec: 0.0000218039579639691 - exac_pnull: 0.0000000000000388216441101404 - exac_nontcga_pli: 0.999932334264256 - exac_nontcga_prec: 0.0000676657351324938 - exac_nontcga_pnull: 0.000000000000611297736772402 - exac_nonpsych_pli: 0.999983482649624 - exac_nonpsych_prec: 0.0000165173502566583 - exac_nonpsych_pnull: 0.000000000000118961221524589 - gnomad_pli: 0.993 - gnomad_prec: 0.0070031 - gnomad_pnull: 0.000000045462 - exac_del_score: 0.688066950627339 - exac_dup_score: 0.390309959550704 - exac_cnv_score: 0.592048309567109 - exac_cnv_flag: N - gdi: 63.2093 - gdi_phred: 1.62731 - gdp_all_disease_causing: Medium - gdp_all_mendelian: Medium - gdp_all_mendelian_ad: Medium - gdp_mendelian_ar: Medium - gdp_pid: Medium - gdp_pid_ad: Medium - gdp_pid_ar: Medium - gdp_cancer: Medium - gdb_cancer_rec: Medium - gdp_cancer_dom: Medium - loftool_score: 0.0212 - sorva_lof_maf_5_het_or_hom: 0 - sorva_lof_maf_5_hom_or_comphet: 0 - sorva_lof_maf_1_het_or_hom: 0 - sorva_lof_maf_1_hom_or_comphet: 0 - sorva_lof_or_mis_maf_5_het_or_hom: 0.0027955271565495207 - sorva_lof_or_mis_maf_5_hom_or_comphet: 0 - sorva_lof_or_mis_maf_1_het_or_hom: 0.0027955271565495207 - sorva_lof_or_mis_maf_1_hom_or_comphet: 0 - essential_gene: E - essential_gene_crispr: N - essential_gene_crispr2: S - essential_gene_gene_trap: K - gene_indispensability_score: 0.853134941017535 - gene_indispensability_pred: E - mgi_mouse_gene: Braf - mgi_mouse_phenotype: "liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; pigmentation phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype; digestive/alimentary phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); craniofacial phenotype; muscle phenotype; " - zfin_zebrafish_gene: "." - zfin_zebrafish_structure: "." - zfin_zebrafish_phenotype_quality: "." - zfin_zebrafish_phenotype_tag: "." -- gene_name: KRAS - ensembl_gene: ENSG00000133703 - chr: "12" - gene_old_names: KRAS2 - gene_other_names: KRAS1 - uniprot_acc: P01116 - uniprot_id: RASK_HUMAN - entrez_gene_id: "3845" - ccds_id: CCDS8702;CCDS8703 - refseq_id: NM_004985;NM_033360 - ucsc_id: uc001rgp.3 - mim_id: "190070" - omim_id: "190070" - gene_full_name: "KRAS proto-oncogene, GTPase" - pathway_uniprot: "." - pathway_biocarta_short: telPathway - pathway_biocarta_full: "Telomeres, Telomerase, Cellular Aging, and Immortality" - pathway_consensus_path_db: "PI3K-Akt signaling pathway - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Melanoma - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);Long-term depression - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Gap junction - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Axon guidance - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Melanogenesis - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Human papillomavirus infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Bisphosphonate Pathway, Pharmacodynamics;Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;VEGF Signaling Pathway;Fc Epsilon Receptor I Signaling in Mast Cells;EGF-Core;IL-5 Signaling Pathway;Integrated Breast Cancer Pathway;Angiogenesis overview;miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Signaling Pathways in Glioblastoma;RalA downstream regulated genes;TNF alpha Signaling Pathway;Oncostatin M Signaling Pathway;Aryl Hydrocarbon Receptor;Extracellular vesicle-mediated signaling in recipient cells;Rac1-Pak1-p38-MMP-2 pathway;G Protein Signaling Pathways;BDNF-TrkB Signaling;MAPK Signaling Pathway;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;Chemokine signaling pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;miRNA regulation of prostate cancer signaling pathways;Endometrial cancer;PI3K-Akt Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;Ras Signaling;EMT transition in Colorectal Cancer;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;ErbB Signaling Pathway;DNA Damage Response (only ATM dependent);Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;SHC1 events in ERBB2 signaling;Developmental Biology;Signaling by PTK6;Signaling by GPCR;FRS-mediated FGFR2 signaling;Signaling by FGFR2;Regulation of Ras family activation;MAP2K and MAPK activation;SHC-mediated cascade:FGFR2;FRS-mediated FGFR3 signaling;Downstream signaling of activated FGFR2;RAF activation;SHC-mediated cascade:FGFR3;Downstream signaling of activated FGFR3;Disease;Signaling by FGFR3;Signal Transduction;FRS-mediated FGFR4 signaling;Gene expression (Transcription);SHC-mediated cascade:FGFR4;Downstream signaling of activated FGFR4;DAP12 signaling;DAP12 interactions;Signaling by FGFR4;Signaling by FGFR;RUNX3 regulates p14-ARF;Transcriptional regulation by RUNX3;telomeres telomerase cellular aging and immortality;VEGFA-VEGFR2 Pathway;Generic Transcription Pathway;B cell receptor signaling;SOS-mediated signalling;IRS-mediated signalling;Insulin receptor signalling cascade;Signaling by Insulin receptor;Activation of RAS in B cells;Signaling by the B Cell Receptor (BCR);SHC1 events in EGFR signaling;Signaling by PDGF;CD4 T cell receptor signaling-ERK cascade;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);RNA Polymerase II Transcription;HGF;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;IGF signaling;Innate Immune System;Immune System;Regulation of RAS by GAPs;FGF;Signaling by FGFR2 in disease;Adaptive Immune System;insulin Mam;Downstream signaling events of B Cell Receptor (BCR);Signaling by EGFR;p38MAPK events;Signalling to RAS;Signalling to ERKs;Signaling by NTRK1 (TRKA);Integrin;Activated NTRK2 signals through RAS;Signaling by NTRK2 (TRKB);Signaling by NTRKs;EGFR1;SHP2 signaling;Tie2 Signaling;Ras signaling in the CD4+ TCR pathway;ErbB1 downstream signaling;Cell surface interactions at the vascular wall;Hemostasis;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;PDGF;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;NCAM signaling for neurite out-growth;NGF;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by Non-Receptor Tyrosine Kinases;MAP kinase cascade;C-MYB transcription factor network;IL2-mediated signaling events;Downstream signal transduction;Class I PI3K signaling events;Signaling by EGFRvIII in Cancer;Signaling by EGFR in Cancer;Signaling by VEGF;GRB2 events in EGFR signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR4 in disease;Axon guidance;Signaling by FGFR3 fusions in cancer;Signaling by FGFR3 in disease;Signaling by SCF-KIT;Signaling by FGFR in disease;Signaling by ERBB2;SHC1 events in ERBB4 signaling;Signaling by ERBB4;SHC-related events triggered by IGF1R;IRS-related events triggered by IGF1R;IGF1R signaling cascade;MET activates RAS signaling;Signaling by FGFR1 in disease;Signaling by MET;Constitutive Signaling by EGFRvIII;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;Signaling by high-kinase activity BRAF mutants;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling;Signaling by moderate kinase activity BRAF mutants;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signaling by Ligand-Responsive EGFR Variants in Cancer;EGF;Paradoxical activation of RAF signaling by kinase inactive BRAF;ErbB2/ErbB3 signaling events;GMCSF-mediated signaling events;mTOR signaling pathway;Neurotrophic factor-mediated Trk receptor signaling;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;Downstream signaling in naïve CD8+ T cells;Internalization of ErbB1;TCR signaling in naïve CD8+ T cells;CXCR3-mediated signaling events;EPHB forward signaling;Plasma membrane estrogen receptor signaling;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);Trk receptor signaling mediated by the MAPK pathway;TCR signaling in naïve CD4+ T cells;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR1;insulin;VEGFR2 mediated cell proliferation;Signaling by FGFR1;CD4 T cell receptor signaling" - pathway_kegg_id: hsa04010;hsa04012;hsa04360;hsa04370;hsa04530;hsa04540;hsa04650;hsa04660;hsa04662;hsa04664;hsa04720;hsa04730;hsa04810;hsa04910;hsa04912;hsa04916;hsa05210;hsa05211;hsa05212;hsa05213;hsa05214;hsa05215;hsa05216;hsa05218;hsa05219;hsa05220;hsa05221;hsa05223 - pathway_kegg_full: MAPK signaling pathway;ErbB signaling pathway;Axon guidance;VEGF signaling pathway;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Long-term potentiation;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer - function_description: "FUNCTION: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation (PubMed:23698361, PubMed:22711838). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). {ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:23698361, ECO:0000269|PubMed:24623306, ECO:0000305}." - disease_description: "DISEASE: Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:8955068}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269|PubMed:17332249}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Noonan syndrome 3 (NS3) [MIM:609942]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:16474405, ECO:0000269|PubMed:16773572, ECO:0000269|PubMed:17056636, ECO:0000269|PubMed:17468812, ECO:0000269|PubMed:19396835, ECO:0000269|PubMed:20949621}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:7773929}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=Defects in KRAS are a cause of pylocytic astrocytoma (PA). Pylocytic astrocytomas are neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. {ECO:0000269|PubMed:16247081}.;DISEASE: Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. {ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:16474405, ECO:0000269|PubMed:17056636, ECO:0000269|PubMed:20949621, ECO:0000269|PubMed:21797849}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=KRAS mutations are involved in cancer development. {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:24623306, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:3627975, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:6695174, ECO:0000269|PubMed:7773929}." - mim_phenotype_id: 601626;607785;609942;613659;615278 - mim_disease: "[MIM:601626]Leukemia, acute myelogenous;[MIM:607785]Leukemia, juvenile myelomonocytic;[MIM:609942]Noonan syndrome 3;[MIM:613659]Gastric cancer;[MIM:615278]Cardiofaciocutaneous syndrome 2" - orphanet_disorder_id: 648;2612;146;1340;2396;251615;268114;3339;144;1333;357191;357194;86834 - orphanet_disorder: Noonan syndrome;Linear nevus sebaceus syndrome;Differentiated thyroid carcinoma;Cardiofaciocutaneous syndrome;Encephalocraniocutaneous lipomatosis;Pilomyxoid astrocytoma;RAS-associated autoimmune leukoproliferative disease;Toriello-Lacassie-Droste syndrome;Lynch syndrome;Familial pancreatic carcinoma;Selection of therapeutic option in non-small cell lung carcinoma;Selection of therapeutic option in colorectal cancer;Juvenile myelomonocytic leukemia - orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing germline mutation(s) (gain of function) in;Candidate gene tested in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Biomarker tested in;Major susceptibility factor in;Biomarker tested in;Biomarker tested in;Disease-causing somatic mutation(s) in - trait_association_gwas: "Disease progression in age-related macular degeneration[29346644];Dysmenorrheic pain[27454463]" - hpo_id: "HP:0001428;HP:0000006;HP:0001425;HP:0003002;HP:0000204;HP:0002582;HP:0012126;HP:0000006;HP:0000175;HP:0000995;HP:0002007;HP:0000269;HP:0001347;HP:0002353;HP:0001510;HP:0100555;HP:0002514;HP:0004422;HP:0001596;HP:0001305;HP:0000612;HP:0000568;HP:0001048;HP:0003422;HP:0009720;HP:0000504;HP:0002132;HP:0002816;HP:0007370;HP:0007400;HP:0000506;HP:0007360;HP:0001250;HP:0000324;HP:0001315;HP:0001249;HP:0001357;HP:0001252;HP:0000737;HP:0004374;HP:0100576;HP:0002076;HP:0012174;HP:0010526;HP:0002027;HP:0001824;HP:0001371;HP:0200008;HP:0010622;HP:0100613;HP:0001123;HP:0100743;HP:0001276;HP:0002893;HP:0001252;HP:0001402;HP:0002024;HP:0002671;HP:0003003;HP:0100835;HP:0006725;HP:0001250;HP:0002019;HP:0010786;HP:0100615;HP:0002376;HP:0100031;HP:0003401;HP:0000739;HP:0010524;HP:0001522;HP:0007256;HP:0002017;HP:0002354;HP:0002516;HP:0001260;HP:0002239;HP:0003006;HP:0000738;HP:0007018;HP:0000716;HP:0012378;HP:0100660;HP:0001288;HP:0100571;HP:0001269;HP:0004493;HP:0002797;HP:0001012;HP:0002652;HP:0005306;HP:0001250;HP:0001274;HP:0001331;HP:0002301;HP:0003552;HP:0001482;HP:0007957;HP:0001650;HP:0040188;HP:0000612;HP:0002120;HP:0011611;HP:0000499;HP:0001704;HP:0002357;HP:0002445;HP:0002514;HP:0100761;HP:0002119;HP:0002763;HP:0002092;HP:0001596;HP:0001680;HP:0001249;HP:0009125;HP:0002381;HP:0012062;HP:0010622;HP:0000488;HP:0000943;HP:0001263;HP:0012157;HP:0000614;HP:0001257;HP:0010529;HP:0002300;HP:0000991;HP:0001052;HP:0000256;HP:0002063;HP:0003470;HP:0000218;HP:0000347;HP:0000465;HP:0001743;HP:0006610;HP:0002650;HP:0000768;HP:0000486;HP:0004415;HP:0000325;HP:0010318;HP:0001260;HP:0002162;HP:0002208;HP:0004209;HP:0007477;HP:0000348;HP:0001252;HP:0000995;HP:0011381;HP:0000474;HP:0002974;HP:0011800;HP:0004322;HP:0100625;HP:0000407;HP:0000179;HP:0001004;HP:0008872;HP:0001641;HP:0000044;HP:0000028;HP:0011869;HP:0002750;HP:0000767;HP:0005692;HP:0001156;HP:0001928;HP:0000391;HP:0000476;HP:0001324;HP:0011675;HP:0000316;HP:0000368;HP:0000639;HP:0000508;HP:0001892;HP:0002240;HP:0000520;HP:0000494;HP:0011362;HP:0000238;HP:0000545;HP:0006191;HP:0001004;HP:0000637;HP:0000974;HP:0004422;HP:0000504;HP:0200102;HP:0000293;HP:0000316;HP:0000028;HP:0008070;HP:0000343;HP:0000391;HP:0002857;HP:0000348;HP:0000958;HP:0000276;HP:0000256;HP:0001654;HP:0000982;HP:0001639;HP:0008064;HP:0001252;HP:0002213;HP:0000508;HP:0005280;HP:0000470;HP:0007565;HP:0000463;HP:0002650;HP:0004322;HP:0008872;HP:0001582;HP:0002217;HP:0001048;HP:0000400;HP:0002120;HP:0010669;HP:0002299;HP:0001531;HP:0001263;HP:0000767;HP:0001622;HP:0000639;HP:0000486;HP:0002997;HP:0001249;HP:0001631;HP:0007392;HP:0000176;HP:0000494;HP:0000286;HP:0002967;HP:0012719;HP:0000465;HP:0003196;HP:0000126;HP:0001642;HP:0100840;HP:0000218;HP:0001260;HP:0009891;HP:0001003;HP:0007440;HP:0002007;HP:0002353;HP:0000368;HP:0002162;HP:0008391;HP:0000648;HP:0000280;HP:0001639;HP:0002836;HP:0000006;HP:0012803;HP:0001510;HP:0001643;HP:0000953;HP:0001004;HP:0000520;HP:0001680;HP:0007759;HP:0001250;HP:0002558;HP:0010816;HP:0000625;HP:0001631;HP:0000286;HP:0000431;HP:0000486;HP:0000483;HP:0000482;HP:0100559;HP:0000470;HP:0000256;HP:0000242;HP:0000639;HP:0001057;HP:0005280;HP:0001428;HP:0100702;HP:0001140;HP:0002326;HP:0000324;HP:0000752;HP:0001263;HP:0001428;HP:0006519;HP:0000006;HP:0000007;HP:0002910;HP:0003002;HP:0001824;HP:0002861;HP:0004396;HP:0025318;HP:0003003;HP:0002017;HP:0003418;HP:0001433;HP:0005249;HP:0100592;HP:0000819;HP:0001738;HP:0006725;HP:0002039;HP:0002254;HP:0012334;HP:0002896;HP:0004389;HP:0002027;HP:0002716;HP:0000952;HP:0012432;HP:0000006;HP:0001428;HP:0006740;HP:0000358;HP:0000337;HP:0003477;HP:0000006;HP:0000545;HP:0002212;HP:0000508;HP:0001263;HP:0000463;HP:0000218;HP:0001634;HP:0008070;HP:0002223;HP:0000280;HP:0000369;HP:0002213;HP:0004808;HP:0000006;HP:0001428;HP:0000006;HP:0002408;HP:0001909;HP:0000006;HP:0002205;HP:0012311;HP:0002665;HP:0001875;HP:0010702;HP:0001876;HP:0100827;HP:0002240;HP:0001744;HP:0001878;HP:0005523;HP:0002731;HP:0002729;HP:0001973;HP:0000006;HP:0000476;HP:0001643;HP:0000767;HP:0000369;HP:0000218;HP:0000465;HP:0005281;HP:0000494;HP:0001263;HP:0001642;HP:0030799;HP:0000316;HP:0004442;HP:0000358;HP:0002007;HP:0001639;HP:0001629;HP:0011995;HP:0001561;HP:0000286;HP:0003196;HP:0012209;HP:0000463;HP:0001631;HP:0001634;HP:0000256;HP:0004322;HP:0002750;HP:0000028;HP:0001428;HP:0410067;HP:0000006;HP:0002894;HP:0000602;HP:0010817;HP:0002671;HP:0003745;HP:0002751;HP:0004912;HP:0007957;HP:0002757;HP:0001250;HP:0004322;HP:0008064;HP:0001249;HP:0007206;HP:0000589;HP:0001010;HP:0006482;HP:0000826;HP:0011073;HP:0001680;HP:0001528;HP:0001596;HP:0001442;HP:0001028;HP:0001780;HP:0003109;HP:0001548;HP:0000267;HP:0000085;HP:0010815;HP:0000938;HP:0001167;HP:0000365;HP:0001252;HP:0001508;HP:0002251;HP:0000463;HP:0000069;HP:0011968;HP:0000625;HP:0001331;HP:0012745;HP:0001999;HP:0000506;HP:0001156;HP:0001561;HP:0008749;HP:0001140;HP:0000047;HP:0030680;HP:0004279;HP:0000486;HP:0001274;HP:0000520;HP:0008065;HP:0000581;HP:0000014;HP:0007440;HP:0000256;HP:0001510;HP:0000286;HP:0003196;HP:0000039" - hpo_name: "Somatic mutation;Autosomal dominant inheritance;Heterogeneous;Breast carcinoma;Cleft upper lip;Chronic atrophic gastritis;Stomach cancer;Autosomal dominant inheritance;Cleft palate;Melanocytic nevus;Frontal bossing;Prominent occiput;Hyperreflexia;EEG abnormality;Growth delay;Asymmetric growth;Cerebral calcification;Biparietal narrowing;Alopecia;Dandy-Walker malformation;Iris coloboma;Microphthalmia;Cavernous hemangioma;Vertebral segmentation defect;Adenoma sebaceum;Abnormality of vision;Porencephalic cyst;Genu recurvatum;Aplasia/Hypoplasia of the corpus callosum;Irregular hyperpigmentation;Telecanthus;Aplasia/Hypoplasia of the cerebellum;Seizure;Facial asymmetry;Reduced tendon reflexes;Intellectual disability;Plagiocephaly;Muscular hypotonia;Irritability;Hemiplegia/hemiparesis;Amaurosis fugax;Migraine;Glioblastoma multiforme;Dysgraphia;Abdominal pain;Weight loss;Flexion contracture;Intestinal polyposis;Neoplasm of the skeletal system;Death in early adulthood;Visual field defect;Neoplasm of the rectum;Hypertonia;Pituitary adenoma;Muscular hypotonia;Hepatocellular carcinoma;Malabsorption;Basal cell carcinoma;Colon cancer;Benign neoplasm of the central nervous system;Pancreatic adenocarcinoma;Seizure;Constipation;Urinary tract neoplasm;Ovarian neoplasm;Developmental regression;Neoplasm of the thyroid gland;Paresthesia;Anxiety;Agnosia;Death in infancy;Abnormal pyramidal sign;Nausea and vomiting;Memory impairment;Increased intracranial pressure;Dysarthria;Gastrointestinal hemorrhage;Neuroblastoma;Hallucinations;Attention deficit hyperactivity disorder;Depressivity;Fatigue;Dyskinesia;Gait disturbance;Cardiac diverticulum;Hemiparesis;Craniofacial hyperostosis;Osteolysis;Multiple lipomas;Skeletal dysplasia;Capillary hemangioma;Seizure;Agenesis of corpus callosum;Absent septum pellucidum;Hemiplegia;Muscle stiffness;Subcutaneous nodule;Corneal opacity;Aortic valve stenosis;Osteochondrosis;Iris coloboma;Cerebral cortical atrophy;Interrupted aortic arch;Abnormal eyelash morphology;Tricuspid valve prolapse;Dysphasia;Tetraplegia;Cerebral calcification;Visceral angiomatosis;Ventriculomegaly;Abnormal cartilage morphology;Pulmonary arterial hypertension;Alopecia;Coarctation of aorta;Intellectual disability;Lipodystrophy;Aphasia;Bone cyst;Neoplasm of the skeletal system;Retinopathy;Dysostosis multiplex;Global developmental delay;Subcortical cerebral atrophy;Abnormal nasolacrimal system morphology;Spasticity;Echolalia;Mutism;Xanthomatosis;Nevus flammeus;Macrocephaly;Rigidity;Paralysis;High palate;Micrognathia;Webbed neck;Abnormality of the spleen;Wide intermamillary distance;Scoliosis;Pectus carinatum;Strabismus;Pulmonary artery stenosis;Triangular face;Aplasia/Hypoplasia of the abdominal wall musculature;Dysarthria;Low posterior hairline;Coarse hair;Clinodactyly of the 5th finger;Abnormal dermatoglyphics;High forehead;Muscular hypotonia;Melanocytic nevus;Aplasia of the semicircular canal;Thickened nuchal skin fold;Radioulnar synostosis;Midface retrusion;Short stature;Enlarged thorax;Sensorineural hearing impairment;Thick lower lip vermilion;Lymphedema;Feeding difficulties in infancy;Abnormal pulmonary valve morphology;Hypogonadotropic hypogonadism;Cryptorchidism;Abnormal platelet function;Delayed skeletal maturation;Pectus excavatum;Joint hyperflexibility;Brachydactyly;Abnormality of coagulation;Thickened helices;Cystic hygroma;Muscle weakness;Arrhythmia;Hypertelorism;Low-set, posteriorly rotated ears;Nystagmus;Ptosis;Abnormal bleeding;Hepatomegaly;Proptosis;Downslanted palpebral fissures;Abnormal hair quantity;Hydrocephalus;Myopia;Deep palmar crease;Lymphedema;Long palpebral fissure;Hyperextensible skin;Biparietal narrowing;Abnormality of vision;Sparse or absent eyelashes;Full cheeks;Hypertelorism;Cryptorchidism;Sparse hair;Long philtrum;Thickened helices;Genu valgum;High forehead;Dry skin;Long face;Macrocephaly;Abnormal heart valve morphology;Palmoplantar keratoderma;Hypertrophic cardiomyopathy;Ichthyosis;Muscular hypotonia;Fine hair;Ptosis;Depressed nasal bridge;Short neck;Multiple cafe-au-lait spots;Anteverted nares;Scoliosis;Short stature;Feeding difficulties in infancy;Redundant skin;Slow-growing hair;Cavernous hemangioma;Macrotia;Cerebral cortical atrophy;Hypoplasia of the zygomatic bone;Brittle hair;Failure to thrive in infancy;Global developmental delay;Pectus excavatum;Premature birth;Nystagmus;Strabismus;Abnormality of the ulna;Intellectual disability;Atrial septal defect;Excessive wrinkled skin;Submucous cleft hard palate;Downslanted palpebral fissures;Epicanthus;Cubitus valgus;Functional abnormality of the gastrointestinal tract;Webbed neck;Short nose;Hydronephrosis;Pulmonic stenosis;Aplasia/Hypoplasia of the eyebrow;High palate;Dysarthria;Underdeveloped supraorbital ridges;Multiple lentigines;Generalized hyperpigmentation;Frontal bossing;EEG abnormality;Low-set, posteriorly rotated ears;Low posterior hairline;Dystrophic fingernails;Optic atrophy;Coarse facial features;Hypertrophic cardiomyopathy;Bladder exstrophy;Autosomal dominant inheritance;Anisometropia;Growth delay;Patent ductus arteriosus;Hyperpigmentation of the skin;Lymphedema;Proptosis;Coarctation of aorta;Opacification of the corneal stroma;Seizure;Supernumerary nipple;Epidermal nevus;Eyelid coloboma;Atrial septal defect;Epicanthus;Wide nasal bridge;Strabismus;Astigmatism;Microcornea;Lower limb asymmetry;Short neck;Macrocephaly;Parietal bossing;Nystagmus;Aplasia cutis congenita;Depressed nasal bridge;Somatic mutation;Arachnoid cyst;Limbal dermoid;Transient ischemic attack;Facial asymmetry;Hyperactivity;Global developmental delay;Somatic mutation;Alveolar cell carcinoma;Autosomal dominant inheritance;Autosomal recessive inheritance;Elevated hepatic transaminase;Breast carcinoma;Weight loss;Melanoma;Poor appetite;Ovarian carcinoma;Colon cancer;Nausea and vomiting;Back pain;Hepatosplenomegaly;Functional intestinal obstruction;Peritoneal abscess;Diabetes mellitus;Exocrine pancreatic insufficiency;Pancreatic adenocarcinoma;Anorexia;Intermittent diarrhea;Extrahepatic cholestasis;Neoplasm of the liver;Intestinal pseudo-obstruction;Abdominal pain;Lymphadenopathy;Jaundice;Chronic fatigue;Autosomal dominant inheritance;Somatic mutation;Transitional cell carcinoma of the bladder;Posteriorly rotated ears;Broad forehead;Peripheral axonal neuropathy;Autosomal dominant inheritance;Myopia;Curly hair;Ptosis;Global developmental delay;Anteverted nares;High palate;Mitral valve prolapse;Sparse hair;Absent eyebrow;Coarse facial features;Low-set ears;Fine hair;Acute myeloid leukemia;Autosomal dominant inheritance;Somatic mutation;Autosomal dominant inheritance;Cerebral arteriovenous malformation;Leukemia;Autosomal dominant inheritance;Recurrent respiratory infections;Monocytosis;Lymphoma;Neutropenia;Increased circulating antibody level;Pancytopenia;Lymphocytosis;Hepatomegaly;Splenomegaly;Hemolytic anemia;Lymphoproliferative disorder;Decreased lymphocyte apoptosis;Follicular hyperplasia;Autoimmune thrombocytopenia;Autosomal dominant inheritance;Cystic hygroma;Patent ductus arteriosus;Pectus excavatum;Low-set ears;High palate;Webbed neck;Hypoplastic nasal bridge;Downslanted palpebral fissures;Global developmental delay;Pulmonic stenosis;Scaphocephaly;Hypertelorism;Sagittal craniosynostosis;Posteriorly rotated ears;Frontal bossing;Hypertrophic cardiomyopathy;Ventricular septal defect;Atrial septal dilatation;Polyhydramnios;Epicanthus;Short nose;Juvenile myelomonocytic leukemia;Anteverted nares;Atrial septal defect;Mitral valve prolapse;Macrocephaly;Short stature;Delayed skeletal maturation;Cryptorchidism;Somatic mutation;Increased level of L-fucose in urine;Autosomal dominant inheritance;Neoplasm of the pancreas;Ophthalmoplegia;Linear nevus sebaceous;Basal cell carcinoma;Sporadic;Kyphoscoliosis;Hypophosphatemic rickets;Corneal opacity;Recurrent fractures;Seizure;Short stature;Ichthyosis;Intellectual disability;Hemimegalencephaly;Coloboma;Hypopigmentation of the skin;Abnormality of dental morphology;Precocious puberty;Abnormality of dental color;Coarctation of aorta;Hemihypertrophy;Alopecia;Somatic mosaicism;Hemangioma;Abnormality of toe;Hyperphosphaturia;Overgrowth;Cranial asymmetry;Horseshoe kidney;Nevus sebaceous;Osteopenia;Abnormality of finger;Hearing impairment;Muscular hypotonia;Failure to thrive;Aganglionic megacolon;Anteverted nares;Abnormality of the ureter;Feeding difficulties;Eyelid coloboma;Absent septum pellucidum;Short palpebral fissure;Abnormal facial shape;Telecanthus;Brachydactyly;Polyhydramnios;Laryngeal hypoplasia;Limbal dermoid;Hypospadias;Abnormality of cardiovascular system morphology;Short palm;Strabismus;Agenesis of corpus callosum;Proptosis;Aplasia/Hypoplasia of the skin;Blepharophimosis;Abnormality of the bladder;Generalized hyperpigmentation;Macrocephaly;Growth delay;Epicanthus;Short nose;Epispadias" - go_biological_process: "MAPK cascade;liver development;positive regulation of protein phosphorylation;stimulatory C-type lectin receptor signaling pathway;Ras protein signal transduction;female pregnancy;positive regulation of cell population proliferation;visual learning;positive regulation of gene expression;cytokine-mediated signaling pathway;forebrain astrocyte development;actin cytoskeleton organization;regulation of protein stability;regulation of synaptic transmission, GABAergic;positive regulation of Rac protein signal transduction;response to isolation stress;endocrine signaling;positive regulation of MAP kinase activity;negative regulation of neuron apoptotic process;negative regulation of cell differentiation;regulation of long-term neuronal synaptic plasticity;homeostasis of number of cells within a tissue;positive regulation of nitric-oxide synthase activity;positive regulation of NF-kappaB transcription factor activity;striated muscle cell differentiation;response to glucocorticoid;response to mineralocorticoid;epithelial tube branching involved in lung morphogenesis;positive regulation of cellular senescence" - go_cellular_component: cytoplasm;mitochondrion;cytosol;plasma membrane;focal adhesion;membrane;extrinsic component of cytoplasmic side of plasma membrane;membrane raft - go_molecular_function: GTPase activity;protein binding;GTP binding;GMP binding;GDP binding;LRR domain binding;protein-containing complex binding - tissue_specificity_uniprot: "." - expression_egenetics: cochlea;intestine;pharynx;tongue;cornea;spinal ganglion;skin;stomach;testis;unclassifiable (Anatomical System);kidney;uterus;whole body;retina;pancreas;bile duct;head and neck;mammary gland;spinal cord;skeletal muscle;islets of Langerhans;visual apparatus;cervix;spleen;liver;peripheral nerve;cartilage;endometrium;bone;germinal center;parathyroid;brain;blood;heart;bone marrow;lung;salivary gland;ovary;thyroid;lymph node;bladder;frontal lobe;colon;placenta;prostate;breast;optic nerve - expression_gnf_atlas: ciliary ganglion;amygdala;prefrontal cortex;trigeminal ganglion;superior cervical ganglion;cingulate cortex;cerebellum;pons;occipital lobe;subthalamic nucleus;dorsal root ganglion;whole brain;atrioventricular node;globus pallidus - interactions_intact: "DIRAS3[25640309];MOCS2[25640309];ABCD3[26496610];NUP107[26496610];DDX47[21988832];C1orf131[26496610];ZMYND8[26496610];IL24[25640309];ARAF[25416956;25852190];GOLIM4[26496610];FRAT1[26496610];RASSF2[12732644];FRAT2[24412244];LSM11[26496610];TXNL4A[26496610];BCAS3[25640309];KSR1[27086506];IGFBP3[24412244];TTC31[26496610];MED4[26496610];DDX50[21988832];ZDHHC17[24705354];SERPINB5[25640309];EEF1A1[21900206];UQCRC1[25640309];MT-CO3[25640309];RAF1[20802526;25852190;20080631];NCBP2-AS2[26496610];HEMGN[24412244];TEDC1[26496610];STX17[24412244];LPAR1[21988832];COPS7B[26496610];PIK3R2[21988832];ADH6[21988832];IGSF21[21900206];PPP2CB[24412244];LIMA1[26496610];DEAF1[21900206];CCL5[25640309];PDE6D[23698361];CCT7[21900206];FAM83D[26496610];RALGDS[21988832];ZNF189[24412244];EGLN1[21988832];TNFSF13[25640309];OSGIN1[25640309];PDE4DIP[21900206];FANCC[24412244];SORBS3[26496610];PML[26496610];GATAD2A[26496610];QDPR[25640309];CDK8[24412244];RPS29[26496610];THRSP[25640309];KRAS[26051715];HNRNPC[16189514];MT-CYB[25640309];RGL2[21988832]" - interactions_biogrid: "RPL4[27684187];RPL5[27684187];RPL30[27684187];NUP107[26496610];RPL3[27684187];RPL32[27684187];RPL31[27684187];FRMPD1[19490893];ARAF[25416956;25852190;28628118];WDR83[19490893];HNRNPR[27684187];ENO1[27684187];ALKBH7[19490893];EPRS[19490893;27684187];RPL8[27684187];RPL6[27684187];RRP9[19490893];RPL7[27684187];ALKBH3[19490893];PREX1[28162770];LSM11[26496610];PSMD2[27684187];PIP4K2A[19490893];FLJ90680[19490893];RPL21[27684187];DNTTIP1[19490893];LOC285556[19490893];CACNA2D2[19490893];MED4[26496610];SYTL2[19490893];NUP93[19490893];MYL6[27684187];RFX4[19490893];FEZ2[19490893];UQCRC1[25640309];C14orf80[26496610];NUP98[24104479];RPL26[27684187];FREM1[19490893];HOXB5[19490893];NCBP2-AS2[26496610];URI1[19490893];NUP205[19490893];HOXD1[19490893];NPRL2[27684187];FLII[27684187];ABCB5[19490893];GATA6[19490893];CDCA8[19490893];MRPS36P4[19490893];COPS7B[26496610];LYPD4[27229929];ANAPC10[24104479];ADH6[21988832];C6[19490893];FLRT2[19490893];RRS1[19490893];COX3[25640309];SFN[27684187];LTA4H[24104479];PROM1[19490893];RHBDL2[19490893];NHEJ1[24104479];GSDMC[19490893];ICMT[28162770];JUP[27684187];ZNF260[19490893];PLK1[19490893];BRAF[28514442;27034005;28628118;27684187];MRPL30[19490893];FAM160A2[19490893];HNRNPK[27684187];QARS[19490893];HNRNPF[27684187];HNRNPC[16189514;19490893;27684187];MOCS2[25640309];ARF1[27684187];LRRC32[19490893];PHF7[19490893];GLI3[19490893];ADAMTSL5[19490893];LCE5A[19490893];NKRF[27684187];TRIM3[19490893];TK2[19490893];TEAD2[19490893];JAK1[19490893];NDC1[19490893];ZC3H10[19490893];WDR36[19490893];WDR37[19490893];ANXA5[19490893];LOC283575[19490893];MRPL49[19490893];RRAS2[27684187];PAWR[27684187];TIMM22[19490893];DYNLL2[19490893];PTGR2[26496610];SERPINB5[19490893;25640309];PSMA5[19490893];TMEM177[19490893];PSMA3[25416956];RILPL2[24104479];PSMA1[27684187];MDFI[25416956];SF3B2[27684187];RPL10[27684187];RPL12[27684187];ATP5A1[27684187];ADAM22[19490893];ADCY8[19490893];HSPA14[19490893];LRRC10[19490893];SPTY2D1[19490893];EGFR[26627737];FAM129B[26721396];PSMB6[19490893];PSMB4[27684187];UNK[25737280];EXOSC10[19490893];PSMB5[19490893];C11orf72[19490893];PSMB2[27684187];CHN1[19490893];PPP1R8[19490893];PSMB1[27684187];RPL15[27684187];RPL18[27684187];RPL17[27684187];EGLN1[21988832];ZNF584[19490893];GPR56[19490893];USP9Y[19490893];C14orf183[19490893];SRP68[27684187];GATAD2A[19490893;26496610];FOXR1[19490893];FAM115C[19490893];PHF5A[27684187];NMNAT1[19490893];PSMC3[27684187];NCAPD2[19490893];MTCH2[27684187];NAB1[24104479];GOLIM4[26496610];CASC5[19490893];UBE2D1[19490893];ZC3HAV1L[19490893];IL1RAP[19490893];IPO7[27684187];CXCL16[19490893];IPO5[27684187];CDH5[19490893];RIMS1[19490893];CDH1[27684187];GRAP2[19490893];NEK1[19490893];OIP5[19490893];STK32A[24104479];HMGN2[19490893];PSKH2[19490893];TXNL4A[26496610];KPNA2[27684187];KCMF1[19490893];CDKL3[19490893];MYLIP[19490893];MAP2K1[24104479;27684187];RPS9[27684187];SNRPN[19490893];USP6[19490893];FBXW7[19490893];KCNH7[19490893];THOC1[24104479;19490893];SYPL2[19490893];RNF40[19490893];MOB3A[19490893];THOC6[27684187];MTNR1A[24104479];SLC9A8[24104479];NCL[19490893;27684187];ANAPC4[19490893];ERH[19490893;27684187];SNRPF[24104479;27684187];TTPAL[19490893];SQSTM1[27684187];ANAPC1[19490893];KMT2E[24104479];KMT2A[19490893];SHC1[26627737];IREB2[19490893];PHB[16041367];KLC1[27684187];RLF[19490893];IGSF21[21900206];BAG2[27684187];TTC21B[19490893];G3BP2[27684187];BRIX1[19490893];NAE1[19490893];MPDZ[19490893];C9orf84[19490893];NADK[19490893];OSBPL9[19490893];RBPMS[25416956];SHFM1[19490893];FANCA[19490893];FBXO36[19490893];LSM5[19490893];EEF2[27684187];COPS4[19490893];MFHAS1[24104479];IBTK[19490893];BFSP1[19490893];RGCC[19490893];COPS5[19490893];GNL3L[19490893];GON4L[19490893];ARPC2[19490893];ARPC3[19490893];CNOT1[19490893];COPS2[19490893];BCL2[19433448];NF1[19490893];PIN1[19490893];TPP2[19490893];IARS[19490893];TUBGCP4[19490893];CYTB[25640309];COPS8[19490893];NOP10[19490893];EIF4G2[27684187];BCL2L1[27684187];ISY1[19490893];DIDO1[19490893];HSP90AB1[27684187];C1orf131[26496610];RASGRF2[11238945];COX4I2[19490893];SNAP23[19490893];TSSK1B[19490893];EFCAB12[19490893];NXT2[24104479];PIK3CG[10542052];CDC73[19490893];PPP6C[27684187];CAPZB[27684187];UBTF[19490893];LINC01547[19490893];CCIN[19490893];ZNF764[24104479];BCAS2[24104479];ACTR2[19490893];BCAS3[25640309];HSP90AA1[27684187];SH2D3A[19490893];ARNT[27684187];TFIP11[27684187];DUSP22[27432908];ARL4A[19490893];PIK3CA[10783161;26627737];TRAF6[24026882];SOS1[26627737];SPACA7[19490893];GAPDH[27684187];CATSPER1[19490893];DGCR14[19490893];UHRF2[19490893];SHCBP1L[19490893];SRSF1[27684187];RCHY1[19490893];COCH[24104479];RNFT1[24104479];FBXL20[19490893];SLITRK2[19490893];FIP1L1[27684187];U2AF2[27684187];CCL5[25640309];IARS2[19490893];FCGR1A[19490893];CTNNAL1[19490893];TRIM44[19490893];DCAF13[19490893];HNRNPA0[27684187];NDUFA9[19490893];NOP56[19490893];PTPN1[19490893];CTNS[19490893];RPL35A[27684187];CDC5L[27684187];RPL23A[27684187];PML[26496610];TSPAN15[19490893];PINK1[19490893];KIAA0101[19490893];POLR3B[19490893];TRIM39[19490893];DNAJA3[18624398];EIF3G[19490893];POLR3F[19490893];RQCD1[19490893];TRIM36[19490893];MNDA[19490893];EIF3E[27684187];NAGS[19490893];EIF3C[19490893];EIF3D[27684187];EIF3A[19490893];METAP2[19490893];APP[21832049];C12orf56[19490893];ZMYND8[26496610];EIF4A3[19490893];RTCB[27684187];ACSM4[19490893];TAS2R62P[19490893];LGALS3[27684187];RPS14[27684187];PNN[27684187];FRAT1[26496610];RASSF2[12732644];RPS19[24104479];RPL18A[24104479;27684187];SNRPD2[24104479];TRIM28[27684187];RASSF5[11857081];CDC27[19490893];MAGOH[27684187];DAG1[19490893];ARL6IP5[27229929];BTRC[24709419];C12orf66[24104479];SOX4[28628118];SRRM2[27684187];JMJD4[24104479];C16orf72[24104479];MRGPRG-AS1[19490893];SLC11A2[19490893];FNDC9[19490893];CRNKL1[19490893];SRRM1[27684187];SPATA17[19490893];KARS[19490893];KCTD12[19490893];BCORL1[19490893];RIN1[28514442];KPRP[19490893];WFDC12[19490893];SPTBN5[19490893];EPB42[3276554];ANP32A[27684187];DHX9[27684187];DCUN1D3[27684187];LPAR1[21988832];TWIST1[19490893];PIK3R2[21988832];ZBTB5[19490893];GSPT1[19490893;27684187];SEC14L3[19490893];SNX2[19490893];SPAST[19490893];DHX38[19490893];TNRC18[19490893];RCE1[28162770];A2M[19490893];RALGDS[10783161;7809086;21988832];SPTBN1[27684187];SRPK2[27684187];XRCC6[27684187];YES1[27684187];XRCC5[27684187];TNFSF13[25640309];OSGIN1[25640309];DCLK2[19490893];PARP12[19490893];UBAC2[19490893];SRPK1[27684187];CRNN[19490893];POLA1[19490893];RPS25[27684187];RPS28[27684187];SNW1[19490893];VNN1[19490893];RPS29[26496610];RPL27A[27684187];CDC16[19490893];MPHOSPH10[27684187];GRB2[26627737];RNPS1[27684187];RPS20[27684187];CALR[19490893];CALM1[11585916;12727204;27684187];RGL2[21988832];ITM2A[19490893];DIRAS3[24104479;25640309];ACVRL1[19490893];CSRNP1[19490893];SUV39H2[19490893];CCDC120[19490893];IL24[25640309];OLA1[27684187];IKBKAP[19490893];C6orf48[19490893];PRPF19[27684187];EDA2R[19490893];SYNCRIP[27684187];XPO1[19490893];SH3PXD2B[19490893];PHGDH[27684187];RAC1[27684187];CCDC112[19490893];CAP1[27684187];CCT2[19490893];SEC13[27684187];CCDC114[24104479];KRT32[19490893];ZDHHC17[24705354];RHOA[27229929];MLF2[19490893];NR5A1[19490893];HCK[19490893];KIF2C[19490893];PABPC1[27684187];MATN2[19490893];SDCCAG8[19490893];NAPA[24104479];YAP1[27684187];CXorf40A[19490893];GNAI3[27684187];IGHMBP2[27684187];NOL8[19490893];UQCR10[19490893];NOL3[19490893];GNAI2[27684187];LIMA1[26496610];EXOSC4[19490893];RELN[19490893];CREG1[19490893];EBLN2[19490893];SHOC2[10783161;28162770];CCT7[21900206];CCT5[27684187];LMLN[24104479];CA12[19490893];GDF10[19490893];SVIL[24104479];NQO2[19490893];MTX2[19490893];HUWE1[19490893];RPA2[19490893];SORBS3[26496610];RGP1[19490893];NBR2[19490893];VMP1[19490893];MIS18A[19490893];HNRNPA2B1[27684187];KIAA0509[19490893];PNPLA4[24104479;19490893];CTNNB1[27684187];PRPF31[24104479];TRIP12[27684187];F2RL3[19490893];NDUFA13[27229929];CD83[24104479];WWC1[19490893];UBE3B[19490893];TOMM20[19490893];IGF1R[27684187];ACTG1[27684187];FBL[19490893];NPM1P13[19490893];CWC22[24104479];ENPP4[19490893];ENPP5[19490893];KDM2A[19490893];ZGPAT[19490893];TMOD3[27684187];ADAM10[24104479];LMO7[27684187];MID1[19490893];RPP25L[19490893];GRIP2[19490893];RSBN1[19490893];EEF1A1[21900206;19490893;27684187];PRPF3[24104479];PPIE[27684187];RAF1[10783161;10882715;19029954;23153539;16041367;16093354;10958680;25852190;26721396;26627737;28162770;15192046;28628118;27684187];EMID1[19490893];GCM2[19490893];RTN2[19490893];PSMD12[19490893;27684187];TMED10[19490893];RBM8A[27684187];CTTNBP2[19490893];PSEN1[19490893];RPF2[19490893];RPF1[19490893];EFNB2[19490893];HCAR1[19490893];ZMAT1[19490893];TMEM248[19490893];DHRS7C[19490893];ZC3H18[19490893];ZC3H13[19490893];FAM83D[26496610];MYH10[27684187];ZC3H15[19490893];HSPA9[19490893;27684187];HSPA8[27684187];DARS[27684187];UBE2I[19490893];KLHL25[19490893];NONO[24104479];TBCD[19490893];GNB2L1[27684187];HIGD2A[19490893];QDPR[25640309];DLG1[27684187];EIF2S3[27684187];CYP11B1[19490893];GNB2[27684187];STT3A[19490893];UBA1[19490893];SAE1[19490893];UBE2M[19490893];YWHAE[27684187];KDM5B[24104479];ABCD3[26496610];DDX3X[27684187];DDX47[21988832];LOC255654[19490893];LOC284379[19490893];DDX43[19490893];HSPB1[27684187];YBX1[27684187];ELAVL1[19322201];TTC27[24104479];GMPPB[19490893];RPS4X[27684187];SEC61A1[27684187];USP30[19490893];HSDL2[19490893];TGIF2[19490893];OR2H2[19490893];TTC31[26496610];TBC1D8[24104479];DDX50[21988832];ARID1B[19490893];YWHAZ[27684187];CCNA2[19490893];DNM3[19490893];SFPQ[24104479];NAV3[19490893];UBE2R2[19490893];THRAP3[27684187];HKDC1[24104479];MYH9[27684187];MCPH1[19490893];KDM3B[19490893];DDX24[27684187];DCTN4[19490893];MVP[19490893];PON2[19490893];RAP1GDS1[11948427;20709748];VPRBP[19490893];OR4K1[19490893];CLCN1[19490893];ASB16[19490893];HSPD1[19490893;27684187];NXF1[19490893];CAND1[27684187];KDELC1[19490893];GNG5[27684187];MAPK1[10958680;26627737];HSD3B7[19490893];RBM39[27684187];NAA10[19490893];HSD3B2[19490893];POLM[19490893];PLA2G2A[19490893];PDE4DIP[21900206];PHKBP2[19490893];NAP1L6[19490893];CARM1[19490893];ACIN1[27684187];KRAS[19490893;27213482;27684187];THRSP[25640309];S100P[27684187];NAA15[19490893];TAF1[24104479];CCDC171[19490893]" - interactions_consensus_path_db: "BRAF[0.999];RAP1GDS1[0.006];APP[0.989];LGALS3[0.944];RASSF2[0.126];RALGDS[0.629];ARAF[0.012];SHOC2[0.839];RAF1[0.999];OSGIN1[0.005];IGSF21[0.005];HNRNPC[0.197];FRAT2[0.034];YWHAH[NA];PPP6C[NA];TIMM50[NA];SLC25A22[NA];DDX5[NA];ATP5MD[NA];YWHAQ[NA];STUB1[NA];TECR[NA];RCN2[NA];YWHAB[NA];TUBA4A[NA];FKBP5[NA];CTNNA1[NA];MAP2K2[NA];RPL39P5[NA];TRIM28[NA];LRRC59[NA];TUBB6[NA];EEF2[NA];DPM1[NA];SLC25A13[NA];YBX3[NA];ARAF[NA];AIFM1[NA];DNAJA2[NA];SLC25A1[NA];YWHAG[NA];RPL37[NA];YWHAZ[NA];ATP5F1B[NA];KIF1BP[NA];SDF4[NA];YWHAE[NA];MT-CYB[0.004];STX17[0.730];IL24[0.007];GATAD2A[NA];TSPYL1[NA];CHERP[NA];GATAD2B[NA];TSPYL2[NA];MGA[NA];HDAC1[NA];ZNF532[NA];PSMD5[NA];MTA1[NA];ZMYND8[NA];CHD4[NA];ZNF687[NA];RBBP7[NA];ZCCHC17[NA];ZNF592[NA];MBD3[NA];HDAC2[NA];ESF1[NA];RPS27L[NA];MTA2[NA];MBD2[NA];PDE4DIP[0.445];HEMGN[0.118];MOCS2[0.157];DDX47[0.106];DIRAS3[0.995];COPS7B[NA];LSM11[NA];PML[NA];MED4[NA];GOLIM4[NA];FAM83D[NA];RPS29[NA];NCBP2-AS2[NA];ABCD3[NA];C1orf131[NA];TXNL4A[NA];SORBS3[NA];GATAD2A[NA];TEDC1[NA];NUP107[NA];DEAF1[0.124];ZDHHC17[0.802];CCT7[0.789];EEF1A1[0.780];THRSP[0.216];CDK8[0.624];SERPINB5[0.351];EMD[NA];YWHAE[NA];YWHAZ[NA];SFN[NA];YWHAG[NA];CCT8[NA];CALU[NA];YWHAH[NA];RAF1[NA];YWHAB[NA];YWHAQ[NA];DNAJA1[NA];TIMM50[NA];QDPR[0.998];CCL5[0.982];GSK3A[NA];GSK3B[NA];FRAT1[NA];PIAS1[NA];UQCRC1[0.996];ZNF189[0.088];EGLN1[0.747];LPAR1[0.985];TNFSF13[0.939];PPP2CB[0.889];IGFBP3[0.273];PDE6D[0.006];DDX50[0.721];FANCC[0.327];PIK3R2[0.823];MT-CO3[0.004];ADH6[0.005];RASSF5[0.608];PIK3CG[0.988];BCL2[0.999];EPB42[0.720];PGGT1B[0.086];FNTB[0.874];RASGRP2[0.996];FNTA[0.754];MAPK12[NA];HSP90AB1[NA];PIK3CA[0.831];RASGRF2[0.990];DNAJA3[0.996];PHB[0.998];RGL2[0.041];MAPK1[0.999];BTRC[0.845];TRAF6[0.997];MDFI[0.166];PSMA3[0.795];RBPMS[0.161];BCAS3[0.523];FRAT1[0.891];ZMYND8[0.623];LIMA1[0.747];PML[0.996];ABCD3[0.967];RPS29[0.369];SORBS3[0.763];TXNL4A[0.181];GOLIM4[0.807];MED4[0.704];GATAD2A[0.188];NUP107[0.965];TTC31[0.004];COPS7B[0.213];FAM83D[0.109];C1orf131[0.004];LSM11[0.187];PTGR2[0.551];NCBP2-AS2[0.004];TEDC1[0.004];FAM129B[0.162];DUSP22[0.158];RIN1[0.954];ARL6IP5[0.772];LYPD4[0.820];NDUFA13[0.999];RHOA[0.997];HSPD1[0.970]" - haploinsufficiency: 0.99997 - hipred_score: 0.76946485042572 - hipred: Y - ghis: 0.620930274 - prec: 0.53296 - known_rec_info: "." - rvis_evs: -0.14 - rvis_percentile_evs: 42.88 - lof_fdr_exac: 0.9387169 - rvis_exac: -0.181726402 - rvis_percentile_exac: 37.93747365 - exac_pli: 0.00106119304255182 - exac_prec: 0.603148256118395 - exac_pnull: 0.395790550839053 - exac_nontcga_pli: 0.00567377477963463 - exac_nontcga_prec: 0.721905890068335 - exac_nontcga_pnull: 0.27242033515203 - exac_nonpsych_pli: 0.000800455744248145 - exac_nonpsych_prec: 0.51252706732373 - exac_nonpsych_pnull: 0.486672476932022 - gnomad_pli: 0.71966 - gnomad_prec: 0.26773 - gnomad_pnull: 0.01261 - exac_del_score: 0.0889959436718797 - exac_dup_score: -0.602982016480107 - exac_cnv_score: -0.376348743051731 - exac_cnv_flag: N - gdi: 3.46519 - gdi_phred: 0.12617 - gdp_all_disease_causing: Medium - gdp_all_mendelian: Medium - gdp_all_mendelian_ad: Low - gdp_mendelian_ar: Low - gdp_pid: Medium - gdp_pid_ad: Medium - gdp_pid_ar: Low - gdp_cancer: Medium - gdb_cancer_rec: Low - gdp_cancer_dom: Medium - loftool_score: 0.19 - sorva_lof_maf_5_het_or_hom: 0 - sorva_lof_maf_5_hom_or_comphet: 0 - sorva_lof_maf_1_het_or_hom: 0 - sorva_lof_maf_1_hom_or_comphet: 0 - sorva_lof_or_mis_maf_5_het_or_hom: 0.0011980830670926517 - sorva_lof_or_mis_maf_5_hom_or_comphet: 0 - sorva_lof_or_mis_maf_1_het_or_hom: 0.0011980830670926517 - sorva_lof_or_mis_maf_1_hom_or_comphet: 0 - essential_gene: E - essential_gene_crispr: E - essential_gene_crispr2: N - essential_gene_gene_trap: K - gene_indispensability_score: 0.990177936755523 - gene_indispensability_pred: E - mgi_mouse_gene: Kras - mgi_mouse_phenotype: "muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; endocrine/exocrine gland phenotype; neoplasm; pigmentation phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; " - zfin_zebrafish_gene: kras - zfin_zebrafish_structure: nucleate erythrocyte - zfin_zebrafish_phenotype_quality: mislocalised - zfin_zebrafish_phenotype_tag: abnormal -- gene_name: TTN - ensembl_gene: ENSG00000155657 - chr: "2" - gene_old_names: CMD1G - gene_other_names: CMPD4;FLJ32040;TMD;CMH9;LGMD2J;MYLK5 - uniprot_acc: Q8WZ42 - uniprot_id: TITIN_HUMAN - entrez_gene_id: "7273" - ccds_id: CCDS54421;CCDS54422;CCDS54423;CCDS54424;CCDS33337;CCDS59435;CCDS74610 - refseq_id: NM_001256850;NM_133378 - ucsc_id: uc031rqc.3 - mim_id: "188840" - omim_id: "188840" - gene_full_name: titin - pathway_uniprot: "." - pathway_biocarta_short: "." - pathway_biocarta_full: "." - pathway_consensus_path_db: "Dilated cardiomyopathy (DCM) - Homo sapiens (human);Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human);Striated Muscle Contraction;Striated Muscle Contraction;Muscle contraction;Platelet degranulation;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis" - pathway_kegg_id: "." - pathway_kegg_full: "." - function_description: "FUNCTION: Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase. {ECO:0000269|PubMed:9804419}." - disease_description: "DISEASE: Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]: Autosomal dominant, adult-onset myopathy with early respiratory muscle involvement. {ECO:0000269|PubMed:15802564}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Cardiomyopathy, familial hypertrophic 9 (CMH9) [MIM:613765]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:10462489}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:11788824, ECO:0000269|PubMed:11846417, ECO:0000269|PubMed:16465475}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Tardive tibial muscular dystrophy (TMD) [MIM:600334]: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. {ECO:0000269|PubMed:12145747, ECO:0000269|PubMed:12891679}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Limb-girdle muscular dystrophy 2J (LGMD2J) [MIM:608807]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. {ECO:0000269|PubMed:12145747}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Salih myopathy (SALMY) [MIM:611705]: An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy. {ECO:0000269|PubMed:17444505}. Note=The disease is caused by mutations affecting the gene represented in this entry." - mim_phenotype_id: 600334;603689;604145;608807;611705;613765 - mim_disease: "[MIM:603689]Hereditary myopathy with early respiratory failure;[MIM:613765]Cardiomyopathy, familial hypertrophic 9;[MIM:604145]Cardiomyopathy, dilated 1G;[MIM:600334]Tardive tibial muscular dystrophy;[MIM:608807]Limb-girdle muscular dystrophy 2J [recessive?];[MIM:611705]Salih myopathy [recessive?]" - orphanet_disorder_id: 169186;154;178464;140922;324604;293910;293899;293888;289377;466921;609 - orphanet_disorder: "Autosomal recessive centronuclear myopathy;Familial isolated dilated cardiomyopathy;Hereditary myopathy with early respiratory failure;Autosomal recessive limb-girdle muscular dystrophy type 2J;Classic multiminicore myopathy;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form;Early-onset myopathy with fatal cardiomyopathy;Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome;Tibial muscular dystrophy" - orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in - trait_association_gwas: "QT interval[20031603;24952745;29213071];Bone mineral density (hip)[30172743];Resting heart rate[27798624];Atrial fibrillation[29290336;29290336;30061737;29892015;29892015];Epstein-Barr virus copy number in lymphoblastoid cell lines[28654678];Breast size[22747683];Waist-to-hip ratio adjusted for BMI x sex interaction[26426971];Heart rate response to recovery post exercise (10 sec)[29497042;29497042];Rapid functional decline in sporadic amyotrophic lateral sclerosis[26746183];Heart rate response to recovery post exercise (20 sec)[29497042]" - hpo_id: "HP:0003687;HP:0011675;HP:0000508;HP:0003198;HP:0003593;HP:0003236;HP:0003577;HP:0000007;HP:0001699;HP:0002650;HP:0008981;HP:0003324;HP:0010628;HP:0001270;HP:0001644;HP:0001371;HP:0030059;HP:0003236;HP:0003202;HP:0002460;HP:0003236;HP:0011463;HP:0003701;HP:0003560;HP:0003676;HP:0000007;HP:0003458;HP:0003828;HP:0008963;HP:0031237;HP:0003458;HP:0003202;HP:0003236;HP:0003722;HP:0003803;HP:0008800;HP:0003557;HP:0012764;HP:0003805;HP:0002091;HP:0002527;HP:0003555;HP:0002792;HP:0002747;HP:0008981;HP:0009027;HP:0100293;HP:0003701;HP:0008978;HP:0000006;HP:0003581;HP:0003458;HP:0003376;HP:0003677;HP:0003829;HP:0003805;HP:0003560;HP:0000982;HP:0003457;HP:0100578;HP:0001644;HP:0003236;HP:0001874;HP:0000407;HP:0003198;HP:0002515;HP:0001618;HP:0001762;HP:0003551;HP:0001761;HP:0003700;HP:0001256;HP:0001270;HP:0000160;HP:0001260;HP:0003691;HP:0000411;HP:0001349;HP:0003803;HP:0000602;HP:0001284;HP:0000193;HP:0000750;HP:0002093;HP:0003307;HP:0001290;HP:0009046;HP:0000278;HP:0003391;HP:0003403;HP:0000276;HP:0003687;HP:0001654;HP:0001712;HP:0003323;HP:0100807;HP:0000218;HP:0003273;HP:0005991;HP:0004889;HP:0001763;HP:0100295;HP:0001290;HP:0002421;HP:0000218;HP:0003306;HP:0000303;HP:0002194;HP:0001667;HP:0001385;HP:0009058;HP:0001708;HP:0003741;HP:0000308;HP:0002828;HP:0030319;HP:0002650;HP:0001508;HP:0001620;HP:0003700;HP:0002877;HP:0001635;HP:0002091;HP:0003327;HP:0004322;HP:0001634;HP:0001644;HP:0000006;HP:0001639;HP:0003557;HP:0003722;HP:0002359;HP:0003547;HP:0003701;HP:0003828;HP:0002792;HP:0003236;HP:0000006;HP:0003805;HP:0009113;HP:0003749;HP:0002355;HP:0009027;HP:0002877;HP:0003581;HP:0002878;HP:0003677;HP:0008981;HP:0003555;HP:0003715;HP:0003731;HP:0003805;HP:0009058;HP:0008180;HP:0031374;HP:0003557;HP:0009027;HP:0009049;HP:0003376;HP:0008959;HP:0003687;HP:0003458;HP:0002312;HP:0003731;HP:0002355;HP:0001678;HP:0012664;HP:0005110;HP:0001644;HP:0000006;HP:0004756;HP:0001635;HP:0006699" - hpo_name: "Centrally nucleated skeletal muscle fibers;Arrhythmia;Ptosis;Myopathy;Infantile onset;Elevated serum creatine kinase;Congenital onset;Autosomal recessive inheritance;Sudden death;Scoliosis;Calf muscle hypertrophy;Generalized muscle weakness;Facial palsy;Motor delay;Dilated cardiomyopathy;Flexion contracture;Mitochondrial depletion;Elevated serum creatine kinase;Skeletal muscle atrophy;Distal muscle weakness;Elevated serum creatine kinase;Childhood onset;Proximal muscle weakness;Muscular dystrophy;Progressive;Autosomal recessive inheritance;EMG: myopathic abnormalities;Variable expressivity;Tibialis muscle weakness;Internally nucleated skeletal muscle fibers;EMG: myopathic abnormalities;Skeletal muscle atrophy;Elevated serum creatine kinase;Neck flexor weakness;Type 1 muscle fiber predominance;Limited hip movement;Increased variability in muscle fiber diameter;Orthopnea;Rimmed vacuoles;Restrictive ventilatory defect;Falls;Muscle fiber splitting;Reduced vital capacity;Respiratory insufficiency due to muscle weakness;Calf muscle hypertrophy;Foot dorsiflexor weakness;Muscle fiber hypertrophy;Proximal muscle weakness;Necrotizing myopathy;Autosomal dominant inheritance;Adult onset;EMG: myopathic abnormalities;Steppage gait;Slow progression;Incomplete penetrance;Rimmed vacuoles;Muscular dystrophy;Palmoplantar keratoderma;EMG abnormality;Lipoatrophy;Dilated cardiomyopathy;Elevated serum creatine kinase;Abnormality of neutrophils;Sensorineural hearing impairment;Myopathy;Waddling gait;Dysphonia;Talipes equinovarus;Difficulty climbing stairs;Pes cavus;Generalized amyotrophy;Intellectual disability, mild;Motor delay;Narrow mouth;Dysarthria;Scapular winging;Protruding ear;Facial diplegia;Type 1 muscle fiber predominance;Ophthalmoplegia;Areflexia;Bifid uvula;Delayed speech and language development;Respiratory insufficiency;Hyperlordosis;Generalized hypotonia;Difficulty running;Retrognathia;Gowers sign;EMG: decremental response of compound muscle action potential to repetitive nerve stimulation;Long face;Centrally nucleated skeletal muscle fibers;Abnormal heart valve morphology;Left ventricular hypertrophy;Progressive muscle weakness;Long fingers;High palate;Hip contracture;Limited neck flexion;Intermittent episodes of respiratory insufficiency due to muscle weakness;Pes planus;Muscle fiber atrophy;Generalized hypotonia;Poor head control;High palate;Spinal rigidity;Mandibular prognathia;Delayed gross motor development;Right ventricular hypertrophy;Hip dysplasia;Increased muscle lipid content;Right ventricular failure;Congenital muscular dystrophy;Microretrognathia;Multiple joint contractures;Weakness of facial musculature;Scoliosis;Failure to thrive;High pitched voice;Generalized amyotrophy;Nocturnal hypoventilation;Congestive heart failure;Restrictive ventilatory defect;Axial muscle weakness;Short stature;Mitral valve prolapse;Dilated cardiomyopathy;Autosomal dominant inheritance;Hypertrophic cardiomyopathy;Increased variability in muscle fiber diameter;Neck flexor weakness;Frequent falls;Shoulder girdle muscle weakness;Proximal muscle weakness;Variable expressivity;Reduced vital capacity;Elevated serum creatine kinase;Autosomal dominant inheritance;Rimmed vacuoles;Diaphragmatic weakness;Pelvic girdle muscle weakness;Difficulty walking;Foot dorsiflexor weakness;Nocturnal hypoventilation;Adult onset;Respiratory failure;Slow progression;Calf muscle hypertrophy;Muscle fiber splitting;Myofibrillar myopathy;Quadriceps muscle weakness;Rimmed vacuoles;Increased muscle lipid content;Mildly elevated creatine kinase;Ankle weakness;Increased variability in muscle fiber diameter;Foot dorsiflexor weakness;Peroneal muscle atrophy;Steppage gait;Distal upper limb muscle weakness;Centrally nucleated skeletal muscle fibers;EMG: myopathic abnormalities;Clumsiness;Quadriceps muscle weakness;Difficulty walking;Atrioventricular block;Reduced ejection fraction;Atrial fibrillation;Dilated cardiomyopathy;Autosomal dominant inheritance;Ventricular tachycardia;Congestive heart failure;Premature atrial contractions" - go_biological_process: platelet degranulation;cardiac muscle hypertrophy;muscle contraction;striated muscle contraction;mitotic chromosome condensation;positive regulation of gene expression;protein kinase A signaling;peptidyl-tyrosine phosphorylation;muscle filament sliding;skeletal muscle thin filament assembly;skeletal muscle myosin thick filament assembly;detection of muscle stretch;sarcomere organization;regulation of protein kinase activity;cardiac muscle fiber development;sarcomerogenesis;positive regulation of protein secretion;regulation of catalytic activity;response to calcium ion;cardiac myofibril assembly;cardiac muscle tissue morphogenesis;cardiac muscle contraction;striated muscle myosin thick filament assembly - go_cellular_component: condensed nuclear chromosome;extracellular region;cytosol;striated muscle thin filament;sarcomere;Z disc;M band;I band;extracellular exosome - go_molecular_function: protease binding;protein serine/threonine kinase activity;protein tyrosine kinase activity;calcium ion binding;protein binding;calmodulin binding;ATP binding;structural constituent of muscle;enzyme binding;protein kinase binding;telethonin binding;identical protein binding;actinin binding;protein self-association;actin filament binding;muscle alpha-actinin binding;structural molecule activity conferring elasticity - tissue_specificity_uniprot: "Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level). {ECO:0000269|PubMed:11717165, ECO:0000269|PubMed:7819249}." - expression_egenetics: tongue;alveolus;skin;myocardium;testis;lens;unclassifiable (Anatomical System);choroid;larynx;kidney;uterus;retina;whole body;pancreas;muscle;head and neck;spinal cord;atrium;skeletal muscle;visual apparatus;fovea centralis;spleen;liver;peripheral nerve;bone;germinal center;parathyroid;blood;heart;bone marrow;lung;ovary;thyroid;macula lutea;frontal lobe;colon;placenta;prostate;nasopharynx;optic nerve - expression_gnf_atlas: pons;fetal thyroid;thyroid;tongue;trigeminal ganglion;atrioventricular node;superior cervical ganglion;testis;skeletal muscle;globus pallidus - interactions_intact: "ENO1[23414517];ENO3[23414517];AMOT[23414517];IGHG1[15174051];MYC[21150319];HIST1H2AE[30021884];CAPN3[20860623;23414517];SH3GLB1[23414517];ACTN3[23414517];ACTN2[9501083;16902413;23414517;11101506;11846417];HIST1H2AH[30021884];ACTN1[11101506];FNDC3B[23414517];KRT8[30021884];ACTN4[23414517];OBSCN[11448995;20489725;23414517;20133654];SCO1[29568061];PARD3[23414517];CLIP4[23414517];ERP29[30021884];VDAC1[17353931];HIST1H2BH[30021884];OBSL1[20489725;20133654];OPTN[23414517];ASF1B[17353931];SF1[23414517];MYCBP2[23414517];PIK3R4[30021884];GABARAP[23414517];HNRNPDL[30021884];STK38L[30108113];ANKRD28[23414517];SRPK2[23602568];NEK9[23414517];UBE2I[23414517];SMURF2[18157088];FN1[23414517];HMGA1[30021884];NEB[16902413;12482578];H2BFS[30021884];ESR1[25604459];ESR2[25604459];CCT6A[23414517];HNRNPF[30021884];ALB[15174051];CALU[30021884];TAB2[23414517];STT3B[30021884];CALM1[7607248];HNRNPA1L2[30021884];RYR1[23414517];MYOM1[23414517];SYNM[25447537];DYRK2[23602568];ITGB5[23414517];MAST2[23414517];FHL1[23414517];DYSF[23414517];HSPB2[26465331];MED19[15175163];ARRB1[17620599];ASH2L[23414517];PYGM[23414517];CHD4[23414517];C1QTNF9[23414517];KRI1[30021884];JPH1[23414517];MYOM2[23414517];HK1[29568061];MAP1LC3B[20562859];MED10[15175163];ANKRD1[23414517];PHGDH[23414517];NEO1[23414517];SGCG[23414517];HIST1H1B[30021884];HIST1H1C[30021884];SUN2[22555292];DFFA[17353931];MYBPC1[23414517];TRIM63[18157088;23414517];MYBPC2[23414517];DDX56[17353931];MED26[15175163];YWHAZ[20618440];HIST2H2BF[30021884];MED29[15175163];HIST2H2BE[30021884];VAV2[18654987;23414517];ACTA2[9501083];RNF167[23414517];PKM[24606918];ITGB1BP2[23414517];RPL12[23414517];POMP[23414517];FSTL1[20860622];TTN[9804419;23414517;16407954;16962974];ABLIM1[23414517];ABLIM2[23414517];EXOSC10[23414517];UGP2[23414517];ATP5F1B[30021884];PUF60[17353931];DNAJB6[23414517];DNAJB5[23414517];FLNA[16902413];EBLN1[30021884];NPM1[30021884];MCRS1[17353931];MYBPH[23414517];HSPE1[30021884];ATP5F1D[23414517];KTN1[30021884];RSL1D1[30021884];TTC3[23414517];HNRNPA2B1[30021884];TCAP[16962094;23414517;15582318;11846417;16407954;19622741];TARDBP[30021884];LIMS1[23414517];HSPA1A[23414517]" - interactions_biogrid: "CEP57[23443559];TOP2A[27453043];DYRK2[23602568];FHL1[22778266];FHL2[12432079];HSPB2[26465331];ARRB1[17620599];BRCA1[26831064];MYPN[14583192];RBM3[26472337];TUBA1A[27453043];YWHAQ[20618440];HEY1[27129302];CDH1[25468996];CHEK2[27453043];CHEK1[27453043];ANKRD1[14583192];CAPN3[9642272;8537379];ANXA7[26344197];ANKRD2[14583192];MYBPC3[8631348];TLE3[28514442];MAP2K1[27453043];TRIM63[11243782;15967462;17215480;24850911;18157088];ACTN1[11305911;9501083];TSC22D2[27337956];TOP3A[27453043];ANK1[12444090];VAV2[18654987];ADAM2[28514442];OBSCN[11448995;17716621];EWSR1[24999758];GAN[26460568];SRSF2[22939629];RAPGEF2[25332235];TOP1[27453043];SQSTM1[15802564];CRYAB[14676215];TRIM55[18157088];ASF1B[17353931];MCM2[25963833];CUL7[24711643];CUL3[21145461];CUL2[21145461];NEDD8[21145461];ADRB2[23798571];RNF2[24457600];EGFR[28065597];PUF60[17353931];LMNA[25948554];MAPK1[22778266;27453043];SPEN[22939629];SRPK2[23602568];NTRK1[25921289];CPSF6[22939629];ANKRD23[14583192];UBE2A[28031328];WEE1[27453043];COPS5[21145461];SP1[22266860];NBR1[15802564];CDK2[21319273;25852190];ALB[15174051];TCAP[9817758;9804419;12446666;9645487;15802564];CALM1[7607248];CUL4B[21145461]" - interactions_consensus_path_db: "TSGA10[0.008];ADRB2[0.377];SMURF2[0.800];CAPN3[0.999];MAST2[0.947];SH3GLB1[0.802];OBSCN[1];TCAP[1];MYBPC2[0.999];DYSF[0.829];RNF167[0.144];FNDC3B[0.378];MCRS1[0.998];DNAJB6[0.846];NEO1[0.021];PUF60[0.891];DNAJB5[0.946];ACTN2[0.999];PHGDH[0.999];EXOSC10[0.987];LIMS1[0.655];NEB[1];OBSL1[0.999];MED25[NA];MED15[NA];HAUS7[NA];SRSF3[NA];NONO[NA];CDK8[NA];MED23[NA];HSPA1L[NA];POLR2I[NA];POLR2L[NA];NOP58[NA];MED8[NA];TARDBP[NA];MYBBP1A[NA];DDX3X[NA];MED19[NA];POLR2F[NA];U2SURP[NA];CMSS1[NA];POLR2E[NA];EEF1A1[NA];MED6[NA];CDK19[NA];POLR2D[NA];MED12[NA];TMLHE[NA];DDX20[NA];MED21[NA];MED9[NA];MED29[NA];MED22[NA];ZBTB9[NA];POLR2J[NA];MED10[NA];MED13L[NA];EXOC4[NA];MED28[NA];MED13[NA];POLR2B[NA];AIFM1[NA];MED17[NA];DNM2[NA];MED24[NA];MED14[NA];TRMT112[NA];DNAJA1[NA];POLR2G[NA];LUC7L3[NA];TMPO[NA];MED18[NA];RBM39[NA];SNRPD1[NA];HNRNPM[NA];MED7[NA];MED1[NA];POLR2A[NA];BAG2[NA];CCT3[NA];POLR2H[NA];CCNC[NA];MED4[NA];DIMT1[NA];MED27[NA];DICER1[NA];MED20[NA];MED11[NA];DNALI1[NA];DDX31[NA];MED30[NA];PRPF19[NA];DDX52[NA];POLR2C[NA];GCN1[NA];MED31[NA];MED16[NA];MED26[NA];PTBP1[NA];ATP5F1D[0.903];TRIM63[0.983];ECH1[NA];SYAP1[NA];KIAA1191[NA];UQCRC2[NA];ATAD3B[NA];C1orf198[NA];CLPB[NA];COX4I1[NA];CCDC58[NA];MRPS31[NA];ETFB[NA];HCCS[NA];NDUFA5[NA];TIMM9[NA];COX11[NA];APOOL[NA];NDUFS6[NA];CHCHD4[NA];CCDC51[NA];MRPS23[NA];AK2[NA];NDUFS7[NA];UBR4[NA];MICU2[NA];HAX1[NA];COX19[NA];ENDOG[NA];TMEM126B[NA];ACOT2[NA];SLC25A12[NA];YME1L1[NA];CMC2[NA];PTCD3[NA];OPA1[NA];IARS2[NA];MAVS[NA];COA6[NA];COX15[NA];SEC16A[NA];COX16[NA];ATP5F1C[NA];TIMM10[NA];ATP5PB[NA];ETFA[NA];OCIAD1[NA];NDUFA7[NA];LETM1[NA];UQCRC1[NA];TOMM70[NA];ATP5PO[NA];MTX3[NA];CRYBG3[NA];PYCR1[NA];PYCR2[NA];SNAP29[NA];FAM136A[NA];TIMM8B[NA];CMC4[NA];LACTB[NA];CDCA3[NA];CHCHD3[NA];CLPX[NA];TOMM22[NA];SCO1[NA];TIMM13[NA];IMMT[NA];TIMMDC1[NA];CPOX[NA];MRPS14[NA];GFER[NA];COA7[NA];NDUFS1[NA];COX17[NA];AFG3L2[NA];MTX2[NA];AKAP1[NA];TRIAP1[NA];COX6B1[NA];TTC19[NA];SAMM50[NA];MRPS22[NA];NDUFS2[NA];NUP93[NA];NDUFA8[NA];ATP5PF[NA];SMIM12[NA];ACOT1[NA];SLC25A13[NA];NDUFS3[NA];FHL3[NA];DNAJC11[NA];AKAP12[NA];CHCHD6[NA];SCO2[NA];BIRC6[NA];TIMM8A[NA];COX5A[NA];GLS[NA];MRPS36[NA];COX5B[NA];CLPP[NA];MYBPH[1];ASF1B[0.990];MYOM1[1];FLNA[0.999];TTC3[0.843];ITGB5[0.811];MYCBP2[0.965];ENO3[0.893];UBE2I[0.997];VAV2[0.988];DYRK2[NA];RB1CC1[NA];DYRK4[NA];MYZAP[NA];POLR2E[NA];POLR2F[NA];MED19[NA];MED8[NA];RECQL5[NA];POLR2L[NA];POLR2I[NA];HSPA1L[NA];MED23[NA];CDK8[NA];MED15[NA];MED25[NA];MED24[NA];MED17[NA];POLR2B[NA];MED28[NA];AFF4[NA];MED22[NA];EIF4A1[NA];MED9[NA];MED21[NA];MED12[NA];POLR2D[NA];CDK19[NA];MED26[NA];MED6[NA];DCD[NA];KPNA4[NA];MED16[NA];MED31[NA];P4HB[NA];POLR2C[NA];MED30[NA];MED11[NA];MED20[NA];SMN1[NA];KANSL3[NA];MED27[NA];GPN3[NA];MED4[NA];POLR2H[NA];POLR2A[NA];UBR5[NA];RPAP2[NA];MED1[NA];MED7[NA];HNRNPM[NA];DDX50[NA];MED18[NA];TMPO[NA];P3H1[NA];POLR2G[NA];MED14[NA];MED13[NA];MED13L[NA];MED10[NA];POLR2J[NA];MED29[NA];ELL2[NA];RYR1[0.999];ACTN3[0.999];ASH2L[0.979];SGCG[0.984];FHL1[0.937];SYNM[0.999];MYOM2[1];MIPEP[NA];ERBIN[NA];SEC31B[NA];NRXN3[NA];HSPA8[NA];TUBA4A[NA];MFGE8[NA];ARSB[NA];CSPP1[NA];ATAD3B[NA];RAB11FIP5[NA];UBC[NA];SPEG[NA];SDK1[NA];IL4R[NA];PTPN14[NA];LMO7[NA];NLRX1[NA];DOCK7[NA];NAV2[NA];RCOR3[NA];LRPPRC[NA];CNMD[NA];RIMS2[NA];ASPM[NA];IQCE[NA];CEP170[NA];IK[NA];SCO2[NA];KIF25[NA];MICALL2[NA];LMNA[NA];MLH3[NA];IKZF2[NA];PDZD2[NA];SPATA31E1[NA];TUT4[NA];MAX[NA];FAM122B[NA];XDH[NA];AMOTL2[NA];ROBO2[NA];CAVIN1[NA];MYC[NA];RIN3[NA];CAVIN3[NA];XYLT1[NA];DDX56[0.984];CLIP4[0.004];ACTN1[0.999];CCT6A[0.920];UGP2[0.778];ANKRD28[0.912];SRPK2[0.983];ACTN4[0.999];ENO1[0.999];CNP[NA];LYZ[NA];HADHA[NA];DDB1[NA];SRRM2[NA];CCDC25[NA];SMARCAD1[NA];PTCD3[NA];USH2A[NA];KRT24[NA];SRSF5[NA];CYCS[NA];KRT72[NA];GOLPH3[NA];PLEC[NA];TOGARAM1[NA];PDIA6[NA];RBMX[NA];CCT7[NA];TMF1[NA];HYOU1[NA];RPS26P11[NA];CFAP47[NA];KRT78[NA];IKZF5[NA];CALM3[NA];SUPT6H[NA];DCTN2[NA];SQOR[NA];PSMC1[NA];KRT4[NA];PRKCSH[NA];SF3B3[NA];PPP6C[NA];OCRL[NA];KRT36[NA];CCT6A[NA];PRMT5[NA];HSP90AB3P[NA];RPS18[NA];VPS13C[NA];PSMC2[NA];KLHL41[NA];MCM2[NA];KRT34[NA];SEC22B[NA];MYO16[NA];KRT15[NA];TARDBP[NA];HGH1[NA];PSMC4[NA];CCT3[NA];KRT31[NA];SART3[NA];DLAT[NA];OR4K3[NA];PSMD11[NA];OGDH[NA];MYLK2[NA];ACTN1[NA];HSPG2[NA];NUP205[NA];GAL3ST4[NA];TUBB3[NA];ESR2[NA];ARCN1[NA];PSMD4[NA];LARS[NA];KRT37[NA];COPB2[NA];COG6[NA];CAD[NA];RNFT2[NA];RPLP0P6[NA];PABPC3[NA];PSMD1[NA];PSMD13[NA];CAPZA1[NA];KRT75[NA];MRPL38[NA];LRRC8E[NA];FLG[NA];RUVBL2[NA];DSP[NA];RPS12[NA];NUDT2[NA];PSMC5[NA];CCDC87[NA];PI4KA[NA];LZTS3[NA];PREPL[NA];CTNNA2[NA];RPL12[NA];SNED1[NA];RPL14[NA];KRT33B[NA];RPL4[NA];OBSCN[NA];PSMC6[NA];BRD3[NA];PCBP1[NA];GTF3C1[NA];PSMB6[NA];TCP1[NA];SCRIB[NA];ACTN4[NA];RPS26[NA];KRTAP3-2[NA];KRT86[NA];SEC16A[NA];DCD[NA];PCBP3[NA];KIF5A[NA];FLG2[NA];TUBB4A[NA];P4HB[NA];MIA3[NA];CAPZA2[NA];COPG2[NA];EEF1G[NA];FLNA[NA];MYH9[NA];GORASP1[NA];ACTR1A[NA];RARB[NA];DLD[NA];MRPS9[NA];PSMD2[NA];SLC25A5[NA];KRT85[NA];SRSF2[NA];PPP1CA[NA];NFKB2[NA];POLDIP2[NA];SEC13[NA];RPS4X[NA];EPRS[NA];KRTAP3-1[NA];POLR2C[NA];PTBP1[NA];MED26[NA];MED16[NA];MED31[NA];MED13[NA];MED13L[NA];MED10[NA];POLR2J[NA];MED29[NA];ELL2[NA];POLR2G[NA];MED14[NA];MED1[NA];MED7[NA];RBM39[NA];MED18[NA];CCNC[NA];POLR2H[NA];POLR2A[NA];DDX3X[NA];MED11[NA];MED20[NA];KANSL3[NA];MED27[NA];TARDBP[NA];MED8[NA];MED4[NA];CCAR1[NA];POLR2K[NA];POLR2E[NA];MED30[NA];POLR2F[NA];MED19[NA];EEF1A1[NA];MED9[NA];MED21[NA];HDAC6[NA];TMLHE[NA];MED12[NA];POLR2D[NA];CDK19[NA];MED6[NA];POLR2B[NA];MED28[NA];AFF4[NA];MED22[NA];EIF4A1[NA];MED24[NA];MED17[NA];MED23[NA];CDK8[NA];NONO[NA];MED15[NA];MED25[NA];POLR2L[NA];RECQL5[NA];POLR2I[NA];HSPA1L[NA];JPH1[0.999];POMP[0.913];AMOT[0.967];RPL12[0.995];NEK9[0.812];ABLIM2[0.996];ANKRD1[0.999];CHD4[0.990];CALM3[0.999];GABARAP[0.993];VDAC1[0.903];HK1[NA];GNB4[NA];MAGED2[NA];ECH1[NA];ANXA2P2[NA];HAGH[NA];LRRC49[NA];ZFP14[NA];ARF4[NA];SEC16A[NA];ATP5F1C[NA];GRPEL1[NA];TPM4[NA];TAB2[0.905];ABLIM1[0.995];H1F0[NA];MYH9[NA];HNRNPC[NA];YWHAE[NA];MYL3[NA];TSC2[NA];VASP[NA];HIST1H4A[NA];YWHAZ[NA];MYLK2[NA];MYH2[NA];YWHAG[NA];H2AFX[NA];MYL12A[NA];LMNA[NA];MYH11[NA];ATP5F1A[NA];ANKRD18A[NA];TGIF2LY[NA];RALY[NA];ACTG1[NA];ACTB[NA];HNRNPA2B1[NA];CEP250[NA];CACNA1S[NA];VIM[NA];CBL[NA];MYH7[NA];YWHAH[NA];TPM1[NA];KRT18[NA];KRT8[NA];DES[NA];BANK1[NA];CALM3[NA];ACTN3[NA];HIST1H1T[NA];ACTN2[NA];HIST1H1C[NA];HIST1H2BD[NA];ACTA2[NA];HIST1H1D[NA];KRT17[NA];MYH13[NA];RPS3[NA];HIST1H2AG[NA];MYH3[NA];TUBB2A[NA];YWHAQ[NA];USP42[NA];PYGM[0.860];ACTN2[NA];ACTA2[NA];ITGB1BP2[1];OPTN[0.852];MED1[NA];MED7[NA];HNRNPM[NA];SNRPD1[NA];RBM39[NA];DDX50[NA];ZNF281[NA];MED18[NA];TMPO[NA];LUC7L3[NA];CCNC[NA];ACIN1[NA];BAG2[NA];POLR2H[NA];RUVBL1[NA];POLR2A[NA];UBR5[NA];SMC4[NA];RPAP2[NA];MED11[NA];MED20[NA];SMN1[NA];AHCTF1[NA];NOC4L[NA];MED27[NA];TCOF1[NA];MED4[NA];ANAPC1[NA];CHD9[NA];MED30[NA];DDX31[NA];DNALI1[NA];GCN1[NA];IPO4[NA];DDX52[NA];POLR2C[NA];PTBP1[NA];MED26[NA];MED16[NA];MED31[NA];ZCCHC10[NA];MED13[NA];POLR2B[NA];MED28[NA];DDX21[NA];PPIG[NA];AFF4[NA];MED13L[NA];POLR2J[NA];ZBTB9[NA];MED10[NA];MED29[NA];ELL2[NA];MED22[NA];EIF4A1[NA];RNPS1[NA];DNAJA1[NA];LMNA[NA];POLR2G[NA];DDB1[NA];MED14[NA];UBTF[NA];KPNA2[NA];MED24[NA];MED17[NA];RANGAP1[NA];PRPF4B[NA];DNM2[NA];ANAPC5[NA];MED23[NA];CDK8[NA];RSL1D1[NA];NONO[NA];SRSF3[NA];FBL[NA];PNN[NA];HCFC1[NA];ANAPC2[NA];MED15[NA];MED25[NA];NOP58[NA];HSPD1[NA];POLR2L[NA];POLR2I[NA];HSPA1L[NA];NOLC1[NA];DDX3X[NA];NUMA1[NA];MYBBP1A[NA];HSPA9[NA];TARDBP[NA];MED8[NA];NOL8[NA];NOP56[NA];U2SURP[NA];POLR2E[NA];CMSS1[NA];MED19[NA];POLR2F[NA];EEF1A1[NA];MED9[NA];CDC23[NA];MED21[NA];DDX20[NA];MED12[NA];HDAC6[NA];POLR2D[NA];CDK19[NA];DDX39B[NA];MED6[NA];SEC16A[NA];WDR26[NA];IARS[NA];TUBB6[NA];DDX17[NA];RPS5[NA];COPG2[NA];PABPC1L[NA];HUWE1[NA];RUVBL2[NA];RPS12[NA];GALK1[NA];GSN[NA];DARS[NA];PHGDH[NA];PPP6R1[NA];ACTN4[NA];RPS26[NA];YWHAZ[NA];CCT3[NA];ATP5F1B[NA];C20orf197[NA];TUBB3[NA];MYLK2[NA];RPLP0P6[NA];PABPC3[NA];PSMD1[NA];LANCL1[NA];PRDX3[NA];TBR1[NA];SEMG2[NA];SEMG1[NA];KRT13[NA];DYNC1H1[NA];RARB[NA];WRNIP1[NA];FLNA[NA];MYH9[NA];MCM2[NA];LRRFIP1[NA];PSMC2[NA];SFPQ[NA];RARA[NA];PSMD2[NA];MYH14[NA];NFKB2[NA];SEC22B[NA];FASN[NA];ESR1[NA];RPS4X[NA];EPRS[NA];KRT15[NA];RPS26P11[NA];HYOU1[NA];KRT79[NA];CCT7[NA];SLC25A6[NA];CFAP47[NA];KRT35[NA];KRT78[NA];PRKCSH[NA];PSMC1[NA];KRT4[NA];DCTN2[NA];MARS[NA];RPS14[NA];S100A8[NA];DNAJA1[NA];DDX5[NA];PDIA6[NA];IMPDH2[NA];PLOD3[NA];KATNAL2[NA];TUBAL3[NA];TUBA1B[NA];PSMC4[NA];RPLP0[NA];LARS[NA];CAD[NA];KRT37[NA];NONO[NA];LPCAT1[NA];DFFA[0.998];SF1[0.988];MYBPC1[1];FSTL1[0.180];UBA1[NA];COPG1[NA];EIF4A1[NA];CCDC87[NA];EEF1A1[NA];EIF1AD[NA];HNRNPH1[NA];SUN2[NA];LMNA[NA];HSPB2[0.927];FN1[0.999];FHL2[0.999];MYBPC3[1];MYLK3[NA];SGO2[NA];SETX[NA];OR3A2[NA];KCNMA1[NA];PDZRN4[NA];SACS[NA];NCOA3[NA];SH3BP5[NA];CABLES1[NA];CFB[NA];HPX[NA];ITGA2[NA];F2[NA];KRT5[NA];OBSL1[NA];CFH[NA];PPBP[NA];CRB1[NA];APOC1[NA];PDE4B[NA];KRT9[NA];CEP44[NA];CDCP1[NA];PHC3[NA];AP4E1[NA];ZNF232[NA];PRSS3[NA];APOC2[NA];APOA4[NA];QTRT2[NA];GJC2[NA];GABBR1[NA];AP1M1[NA];RANBP3[NA];TTR[NA];F7[NA];SLC1A5[NA];PALB2[NA];KRT1[NA];PLA2G4F[NA];APOC3[NA];TIAM1[NA];CACNA1I[NA];DERL1[NA];FGA[NA];CFD[NA];ZNF292[NA];APOA2[NA];OR2T6[NA];KRT10[NA];SPATA31A7[NA];APOA1[NA];RYR2[NA];CLCA2[NA];GSN[NA];SCAF1[NA];LAT[NA];KRT6B[NA];APOE[NA];SLC25A13[NA];JARID2[NA];DDB1[NA];PCED1B[NA];ITIH1[NA];AHSG[NA];KIAA1551[NA];TTPAL[NA];DMD[NA];KIAA0232[NA];CROT[NA];OR8D2[NA];AMPD3[NA];ITGB5[NA];KRT16[NA];PCDH1[NA];ST13[NA];MYL4[NA];SLC9A8[NA];SCN5A[NA];IGHG1[NA];TRAPPC11[NA];DGKG[NA];RLF[NA];FN1[NA];EXOC6[NA];TSC22D1[NA];PF4V1[NA];IGDCC4[NA];DICER1[NA];AGA[NA];SPAST[NA];HP[NA];LDB3[NA];CAMTA1[NA];GRAP2[NA];ATM[NA];SLA2[NA];NPHS1[NA];TLN2[NA];THRAP3[NA];CDC45[NA];SERPING1[NA];CTSL[NA];NLRC4[NA];KRT13[NA];CHKB[NA];FAM71E2[NA];ALB[NA];KRT14[NA];GFAP[NA];GCN1[NA];KRT6A[NA];SORBS3[NA];RANBP2[NA];CNOT1[NA];DCD[NA];CST3[NA];PEG3[NA];KLK3[NA];ADRA1B[NA];PLAG1[NA];ACTA1[1];CRYAB[0.755];ANKRD2[1];ANKRD23[0.999];ANK1[0.999];MYH9[0.996];NBR1[0.999];MYPN[0.999];YWHAQ[0.961];ARRB1[0.997];SP1[0.570];SQSTM1[0.984];CUL3[0.987];CUL4B[0.418];CUL2[0.11];CDK2[0.999];COPS5[0.938];NEDD8[0.975];SRSF2[0.957];SPEN[0.939];CPSF6[0.944];ALB[0.998];DYRK2[0.592];CEP57[0.997];TRIM55[0.979];RAPGEF2[0.037];MAPK1[0.994];CUL7[0.985];RNF2[0.998];NTRK1[0.759];ANXA7[0.928];EWSR1[0.620];GAN[0.984];MCM2[0.999];TSC22D2[0.008];CDH1[0.769];EGFR[0.893];TLE3[0.973];ADAM2[0.453];RBM3[0.926];UBE2A[0.999];HEY1[0.734];BRCA1[0.997];LMNA[0.999];KY[0.999];HLA-A[NA];B2M[NA];ACTA2[1]" - haploinsufficiency: 0.40699 - hipred_score: 0.414402037858963 - hipred: N - ghis: 0.504755501 - prec: 0.38418 - known_rec_info: "." - rvis_evs: 2.17 - rvis_percentile_evs: 98.04 - lof_fdr_exac: 0.0000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000015993 - rvis_exac: 3.161811341 - rvis_percentile_exac: 99.50003012 - exac_pli: 0.0000000000000000000000000000000121111377105808 - exac_prec: 1 - exac_pnull: 0.000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000579491096992649 - exac_nontcga_pli: 0.0000000000000000000541132746419792 - exac_nontcga_prec: 1 - exac_nontcga_pnull: 0.000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000155476328983857 - exac_nonpsych_pli: 0.000000000000000000900554453364465 - exac_nonpsych_prec: 1 - exac_nonpsych_pnull: 0.0000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000488337429678558 - gnomad_pli: 0.000000000000000000000000000000000000000000000000000000037438 - gnomad_prec: 1 - gnomad_pnull: 0.00000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000013385 - exac_del_score: "." - exac_dup_score: "." - exac_cnv_score: "." - exac_cnv_flag: "." - gdi: 74772.86558 - gdi_phred: 42.91324 - gdp_all_disease_causing: High - gdp_all_mendelian: High - gdp_all_mendelian_ad: High - gdp_mendelian_ar: High - gdp_pid: High - gdp_pid_ad: High - gdp_pid_ar: High - gdp_cancer: High - gdb_cancer_rec: High - gdp_cancer_dom: High - loftool_score: 0.971 - sorva_lof_maf_5_het_or_hom: 0.017172523961661343 - sorva_lof_maf_5_hom_or_comphet: 0.0011980830670926517 - sorva_lof_maf_1_het_or_hom: 0.012779552715654952 - sorva_lof_maf_1_hom_or_comphet: 0.0011980830670926517 - sorva_lof_or_mis_maf_5_het_or_hom: 0.7827476038338658 - sorva_lof_or_mis_maf_5_hom_or_comphet: 0.5171725239616614 - sorva_lof_or_mis_maf_1_het_or_hom: 0.5499201277955271 - sorva_lof_or_mis_maf_1_hom_or_comphet: 0.2496006389776358 - essential_gene: E - essential_gene_crispr: N - essential_gene_crispr2: N - essential_gene_gene_trap: N - gene_indispensability_score: 0.94905308480722 - gene_indispensability_pred: E - mgi_mouse_gene: Ttn - mgi_mouse_phenotype: "growth/size/body region phenotype; muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype; " - zfin_zebrafish_gene: ttn.1 - zfin_zebrafish_structure: skeletal muscle cell - zfin_zebrafish_phenotype_quality: disorganized - zfin_zebrafish_phenotype_tag: abnormal - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap deleted file mode 100644 index 4945d819..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap +++ /dev/null @@ -1,85 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- hgnc_id: "HGNC:100" - hgnc_symbol: ASIC1 - p_hi: 0.372226278 - hi_index: 22.59 -- hgnc_id: "HGNC:10000" - hgnc_symbol: RGS4 - p_hi: 0.307829343 - hi_index: 27.02 -- hgnc_id: "HGNC:10001" - hgnc_symbol: RGS5 - p_hi: 0.254559645 - hi_index: 31.16 -- hgnc_id: "HGNC:10002" - hgnc_symbol: RGS6 - p_hi: 0.590032694 - hi_index: 12.13 -- hgnc_id: "HGNC:10003" - hgnc_symbol: RGS7 - p_hi: 0.625263603 - hi_index: 10.93 -- hgnc_id: "HGNC:10004" - hgnc_symbol: RGS9 - p_hi: 0.076663554 - hi_index: 55.97 -- hgnc_id: "HGNC:10006" - hgnc_symbol: RHAG - p_hi: 0.112613028 - hi_index: 48.74 -- hgnc_id: "HGNC:10007" - hgnc_symbol: RHBDL1 - p_hi: 0.12245953 - hi_index: 47.03 -- hgnc_id: "HGNC:10008" - hgnc_symbol: RHCE - p_hi: 0.008358084 - hi_index: 82.29 -- hgnc_id: "HGNC:10009" - hgnc_symbol: RHD - p_hi: 0.008254663 - hi_index: 82.4 -- hgnc_id: "HGNC:1001" - hgnc_symbol: BCL6 - p_hi: 0.913517921 - hi_index: 3.15 -- hgnc_id: "HGNC:10011" - hgnc_symbol: RHEB - p_hi: 0.789197392 - hi_index: 6.12 -- hgnc_id: "HGNC:10012" - hgnc_symbol: RHO - p_hi: 0.941179124 - hi_index: 2.44 -- hgnc_id: "HGNC:10013" - hgnc_symbol: GRK1 - p_hi: 0.090604558 - hi_index: 53.1 -- hgnc_id: "HGNC:10017" - hgnc_symbol: RIT2 - p_hi: 0.362346922 - hi_index: 23.27 -- hgnc_id: "HGNC:10018" - hgnc_symbol: RING1 - p_hi: 0.223170581 - hi_index: 34.04 -- hgnc_id: "HGNC:10019" - hgnc_symbol: RIPK1 - p_hi: 0.094475501 - hi_index: 52.24 -- hgnc_id: "HGNC:1002" - hgnc_symbol: BCL6B - p_hi: 0.213572706 - hi_index: 35.16 -- hgnc_id: "HGNC:10020" - hgnc_symbol: RIPK2 - p_hi: 0.393221381 - hi_index: 21.18 -- hgnc_id: "HGNC:10021" - hgnc_symbol: RIPK3 - p_hi: 0.001720654 - hi_index: 91.79 - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap deleted file mode 100644 index 073082d1..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap +++ /dev/null @@ -1,43 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- gene_symbol: SF3B1 - score: 0.99999987 -- gene_symbol: CSNK2A1 - score: 0.99999894 -- gene_symbol: LHX2 - score: 0.99999882 -- gene_symbol: DACH1 - score: 0.99999843 -- gene_symbol: PAX6 - score: 0.99999815 -- gene_symbol: PRPF8 - score: 0.99999699 -- gene_symbol: ATP2B1 - score: 0.99999646 -- gene_symbol: DYNC1H1 - score: 0.99999641 -- gene_symbol: PIK3CA - score: 0.99999578 -- gene_symbol: PTEN - score: 0.99999549 -- gene_symbol: TBL1XR1 - score: 0.99999526 -- gene_symbol: HNRNPR - score: 0.99999428 -- gene_symbol: TOP2B - score: 0.99999406 -- gene_symbol: GSK3B - score: 0.99999361 -- gene_symbol: CDK8 - score: 0.99999266 -- gene_symbol: XPO1 - score: 0.99999264 -- gene_symbol: SREBF1 - score: 0.99999208 -- gene_symbol: PIAS1 - score: 0.99999156 -- gene_symbol: NR2F2 - score: 0.99999147 - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap deleted file mode 100644 index d9861f35..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap +++ /dev/null @@ -1,80 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- ensembl_gene_id: ENSG00000133703 - entrez_id: "3845" - gene_symbol: KRAS - exp_lof: 9.5335 - exp_mis: 97.354 - exp_syn: 34.508 - mis_z: 2.3177 - obs_lof: 6 - obs_mis: 33 - obs_syn: 32 - oe_lof: 0.62936 - oe_lof_lower: 0.344 - oe_lof_upper: 1.24 - oe_mis: 0.33897 - oe_mis_lower: 0.256 - oe_mis_upper: 0.453 - oe_syn: 0.92733 - oe_syn_lower: 0.699 - oe_syn_upper: 1.246 - pli: 0.00078803 - syn_z: 0.33557 - exac_pli: 0.0010612 - exac_obs_lof: 5 - exac_exp_lof: 6.3596 - exac_oe_lof: 0.78621 -- ensembl_gene_id: ENSG00000157764 - entrez_id: "673" - gene_symbol: BRAF - exp_lof: 50.21 - exp_mis: 416.75 - exp_syn: 153.49 - mis_z: 3.7208 - obs_lof: 5 - obs_mis: 203 - obs_syn: 157 - oe_lof: 0.099581 - oe_lof_lower: 0.051 - oe_lof_upper: 0.209 - oe_mis: 0.48711 - oe_mis_lower: 0.434 - oe_mis_upper: 0.547 - oe_syn: 1.0229 - oe_syn_lower: 0.897 - oe_syn_upper: 1.168 - pli: 0.99995 - syn_z: -0.22259 - exac_pli: 0.99998 - exac_obs_lof: 2 - exac_exp_lof: 38.79 - exac_oe_lof: 0.05156 -- ensembl_gene_id: ENSG00000155657 - entrez_id: "7273" - gene_symbol: TTN - exp_lof: 1331.1 - exp_mis: 17648 - exp_syn: 6410.1 - mis_z: -1.1021 - obs_lof: 435 - obs_mis: 18060 - obs_syn: 6427 - oe_lof: 0.3268 - oe_lof_lower: 0.301 - oe_lof_upper: 0.354 - oe_mis: 1.0233 - oe_mis_lower: 1.01 - oe_mis_upper: 1.036 - oe_syn: 1.0026 - oe_syn_lower: 0.981 - oe_syn_upper: 1.023 - pli: 0.0000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000025582 - syn_z: -0.16611 - exac_pli: 0.000000000000000000000000000000012111 - exac_obs_lof: 247 - exac_exp_lof: 893.88 - exac_oe_lof: 0.27632 - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap deleted file mode 100644 index 39811dcc..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap +++ /dev/null @@ -1,194 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- ensembl_gene_id: ENSG00000121410 - entrez_id: "1" - gene_symbol: A1BG - exp_lof: 43.008 - exp_mis: 646.45 - exp_syn: 295.68 - mis_z: -0.86948 - obs_lof: 45 - obs_mis: 707 - obs_syn: 316 - oe_lof: 1.0463 - oe_lof_lower: 0.823 - oe_lof_upper: 1.342 - oe_mis: 1.0937 - oe_mis_lower: 1.027 - oe_mis_upper: 1.164 - oe_syn: 1.0687 - oe_syn_lower: 0.974 - oe_syn_upper: 1.173 - pli: 0.00000000000000017129 - syn_z: -0.64437 -- ensembl_gene_id: ENSG00000148584 - entrez_id: "29974" - gene_symbol: A1CF - exp_lof: 69.896 - exp_mis: 744.8 - exp_syn: 272.29 - mis_z: 1.2281 - obs_lof: 45 - obs_mis: 653 - obs_syn: 272 - oe_lof: 0.64381 - oe_lof_lower: 0.506 - oe_lof_upper: 0.825 - oe_mis: 0.87674 - oe_mis_lower: 0.821 - oe_mis_upper: 0.935 - oe_syn: 0.99895 - oe_syn_lower: 0.904 - oe_syn_upper: 1.104 - pli: 0.00000000074328 - syn_z: 0.0094264 -- ensembl_gene_id: ENSG00000175899 - entrez_id: "2" - gene_symbol: A2M - exp_lof: 147.1 - exp_mis: 1631.7 - exp_syn: 624.65 - mis_z: 2.7451 - obs_lof: 95 - obs_mis: 1328 - obs_syn: 541 - oe_lof: 0.64584 - oe_lof_lower: 0.546 - oe_lof_upper: 0.766 - oe_mis: 0.81386 - oe_mis_lower: 0.777 - oe_mis_upper: 0.852 - oe_syn: 0.86608 - oe_syn_lower: 0.806 - oe_syn_upper: 0.93 - pli: 0.000000000000000000091331 - syn_z: 1.8251 -- ensembl_gene_id: ENSG00000166535 - entrez_id: "144568" - gene_symbol: A2ML1 - exp_lof: 175.89 - exp_mis: 1784.1 - exp_syn: 680.92 - mis_z: 1.6427 - obs_lof: 146 - obs_mis: 1594 - obs_syn: 636 - oe_lof: 0.83121 - oe_lof_lower: 0.725 - oe_lof_upper: 0.954 - oe_mis: 0.89347 - oe_mis_lower: 0.857 - oe_mis_upper: 0.931 - oe_syn: 0.93402 - oe_syn_lower: 0.874 - oe_syn_upper: 0.997 - pli: 0.00000000000000000000000000000000000000015734 - syn_z: 0.93881 -- ensembl_gene_id: ENSG00000184389 - entrez_id: "127550" - gene_symbol: A3GALT2 - exp_lof: 26.534 - exp_mis: 381.4 - exp_syn: 160.06 - mis_z: -4.0864 - obs_lof: 41 - obs_mis: 600 - obs_syn: 253 - oe_lof: 1.0228 - oe_lof_lower: 0.699 - oe_lof_upper: 1.53 - oe_mis: 1.5732 - oe_mis_lower: 1.471 - oe_mis_upper: 1.683 - oe_syn: 1.5807 - oe_syn_lower: 1.426 - oe_syn_upper: 1.754 - pli: 0.0000010075 - syn_z: -4.0061 -- ensembl_gene_id: ENSG00000128274 - entrez_id: "53947" - gene_symbol: A4GALT - exp_lof: 21.691 - exp_mis: 494.59 - exp_syn: 225.34 - mis_z: -0.28586 - obs_lof: 22 - obs_mis: 512 - obs_syn: 257 - oe_lof: 0.61691 - oe_lof_lower: 0.303 - oe_lof_upper: 1.394 - oe_mis: 1.0352 - oe_mis_lower: 0.962 - oe_mis_upper: 1.114 - oe_syn: 1.1405 - oe_syn_lower: 1.029 - oe_syn_upper: 1.265 - pli: 0.075456 - syn_z: -1.1499 -- ensembl_gene_id: ENSG00000118017 - entrez_id: "51146" - gene_symbol: A4GNT - exp_lof: 27.359 - exp_mis: 436.48 - exp_syn: 167.83 - mis_z: 1.0569 - obs_lof: 14 - obs_mis: 376 - obs_syn: 156 - oe_lof: 0.70139 - oe_lof_lower: 0.383 - oe_lof_upper: 1.377 - oe_mis: 0.86143 - oe_mis_lower: 0.791 - oe_mis_upper: 0.938 - oe_syn: 0.92954 - oe_syn_lower: 0.815 - oe_syn_upper: 1.062 - pli: 0.019099 - syn_z: 0.49778 -- ensembl_gene_id: ENSG00000094914 - entrez_id: "8086" - gene_symbol: AAAS - exp_lof: 81.872 - exp_mis: 722.62 - exp_syn: 280.11 - mis_z: 0.87764 - obs_lof: 61 - obs_mis: 658 - obs_syn: 271 - oe_lof: 0.74507 - oe_lof_lower: 0.605 - oe_lof_upper: 0.922 - oe_mis: 0.91057 - oe_mis_lower: 0.853 - oe_mis_upper: 0.971 - oe_syn: 0.96747 - oe_syn_lower: 0.875 - oe_syn_upper: 1.07 - pli: 0.0000000000000008615 - syn_z: 0.29692 -- ensembl_gene_id: ENSG00000081760 - entrez_id: "65985" - gene_symbol: AACS - exp_lof: 82.529 - exp_mis: 896.85 - exp_syn: 349.3 - mis_z: 0.4736 - obs_lof: 65 - obs_mis: 858 - obs_syn: 333 - oe_lof: 0.7876 - oe_lof_lower: 0.644 - oe_lof_upper: 0.968 - oe_mis: 0.95668 - oe_mis_lower: 0.904 - oe_mis_upper: 1.012 - oe_syn: 0.95333 - oe_syn_lower: 0.871 - oe_syn_upper: 1.044 - pli: 0.0000000000000000085337 - syn_z: 0.4756 - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap deleted file mode 100644 index 32068e0f..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap +++ /dev/null @@ -1,27909 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- hgnc_id: "HGNC:37102" - ensembl_gene_id: ENSG00000223972 - ensembl_gene_version: "5" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 6 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 11 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 1 - - 1 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 2 - - 14 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 0.5 - - 4 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 1 - - 2 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 0 - - 6 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 0 - - 6 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 4 - - 7 - - 13 - - 68 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 -- hgnc_id: "HGNC:38034" - ensembl_gene_id: ENSG00000227232 - ensembl_gene_version: "5" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 12 - - 99 - - 129 - - 173.5 - - 944 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 13 - - 75 - - 116 - - 168 - - 450 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 29 - - 74.25 - - 105 - - 154.75 - - 552 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 41 - - 105 - - 136 - - 180 - - 325 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 28 - - 70 - - 96 - - 129 - - 577 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 68 - - 100 - - 153 - - 749 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 28 - - 78 - - 107 - - 145.25 - - 383 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 24 - - 82 - - 115 - - 148.25 - - 692 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 13 - - 75 - - 100 - - 134 - - 1034 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 14 - - 46 - - 67.5 - - 97 - - 268 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 27 - - 55.75 - - 76 - - 110.25 - - 241 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 8 - - 54 - - 78.5 - - 108 - - 276 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 39 - - 123 - - 169 - - 231.5 - - 664 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 24 - - 118 - - 171 - - 224 - - 639 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 24 - - 82 - - 105 - - 142 - - 557 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 18 - - 64 - - 85 - - 124 - - 462 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 17 - - 62 - - 85 - - 113 - - 478 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 19 - - 55.5 - - 80 - - 111.5 - - 568 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 11 - - 50 - - 73 - - 107 - - 410 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 6 - - 49 - - 74 - - 108 - - 281 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 14 - - 65.5 - - 96 - - 130.5 - - 416 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 21 - - 54 - - 79 - - 110.5 - - 376 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 20 - - 104 - - 140 - - 195 - - 561 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 92 - - 95 - - 151 - - 198 - - 237 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 105 - - 164 - - 184.5 - - 218.25 - - 325 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 39 - - 111 - - 150 - - 200 - - 531 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 42 - - 101 - - 139 - - 190 - - 683 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 24 - - 98.5 - - 138 - - 186 - - 1081 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 23 - - 77 - - 109 - - 152.5 - - 629 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 21 - - 96 - - 129 - - 174.5 - - 835 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 95 - - 120 - - 153 - - 176 - - 286 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 11 - - 49 - - 73 - - 101 - - 320 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 7 - - 34 - - 50 - - 75 - - 263 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 30 - - 96 - - 142 - - 182 - - 631 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 71 - - 79.25 - - 109 - - 153 - - 204 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 17 - - 54.25 - - 76.5 - - 108.25 - - 336 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 12 - - 91.25 - - 130 - - 185 - - 495 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 7 - - 42 - - 61 - - 86 - - 312 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 16 - - 132 - - 172 - - 236.5 - - 825 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 43 - - 128 - - 175 - - 245 - - 955 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 15 - - 58 - - 81 - - 114.25 - - 865 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 41 - - 120 - - 176 - - 238 - - 1288 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 44 - - 151 - - 211 - - 303 - - 1210 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 33 - - 95.5 - - 124.5 - - 172.75 - - 439 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 12 - - 38 - - 54 - - 72 - - 217 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 39 - - 142 - - 188 - - 256 - - 705 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 24 - - 145 - - 198 - - 263 - - 988 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 30 - - 117.5 - - 156 - - 201 - - 715 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 48 - - 141 - - 194 - - 279 - - 916 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 26 - - 74 - - 105 - - 149 - - 410 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 15 - - 111 - - 152 - - 209 - - 561 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 26 - - 121 - - 170 - - 232 - - 884 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 50 - - 132 - - 193 - - 251 - - 688 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 40 - - 111.75 - - 157.5 - - 201 - - 581 -- hgnc_id: "HGNC:50039" - ensembl_gene_id: ENSG00000278267 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 6 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 -- hgnc_id: "HGNC:52482" - ensembl_gene_id: ENSG00000243485 - ensembl_gene_version: "5" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 1 - - 18 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 1 - - 1 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 7 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 7 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 7 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 1 - - 20 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 1.75 - - 16 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 1 - - 1 - - 28 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 1 - - 35 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 1 - - 1 - - 28 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 48 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 25 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 1 - - 1 - - 4 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 1 - - 13 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 1 - - 12 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 9 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 1 - - 22 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 1 - - 1 - - 35 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 1 - - 1 - - 23 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0.25 - - 1 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 1 - - 20 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 1 - - 21 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 0 - - 16 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 1 - - 12 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 -- hgnc_id: "HGNC:32334" - ensembl_gene_id: ENSG00000237613 - ensembl_gene_version: "2" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 8 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 1 - - 25 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 1 - - 15 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 1 - - 15 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 1 - - 13 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 0 - - 7 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 0 - - 11 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 9 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 1 - - 1 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0.25 - - 1 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 10 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 0 - - 11 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 0 - - 6 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 -- hgnc_id: "HGNC:14822" - ensembl_gene_id: ENSG00000268020 - ensembl_gene_version: "3" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 1 - - 26 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 1 - - 2 - - 15 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 1 - - 1 - - 2 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 1 - - 1.5 - - 3 - - 15 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 1 - - 2 - - 3 - - 21 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 3 - - 25 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 1 - - 1 - - 15 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 1 - - 2 - - 53 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 1 - - 3 - - 21 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 1 - - 2 - - 3 - - 75 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 1 - - 1 - - 3 - - 60 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 1 - - 1 - - 3 - - 37 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 1 - - 2 - - 3 - - 46 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 1 - - 3 - - 10 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 1 - - 1 - - 14 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 1 - - 1 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0.5 - - 1 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 1 - - 1 - - 10 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 1 - - 2 - - 19 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 1 - - 1 - - 13 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 1 - - 14 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 1 - - 26 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 1 - - 2 - - 46 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 1 - - 2 - - 4 - - 54 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 1 - - 1 - - 2 - - 40 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0.25 - - 1 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 1 - - 2 - - 42 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 1 - - 2 - - 23 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 1 - - 1 - - 14 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 1 - - 1 - - 22 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 1 - - 13 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 1 - - 1 - - 8 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 1 - - 1 - - 23 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 -- hgnc_id: "HGNC:31276" - ensembl_gene_id: ENSG00000240361 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 1 - - 2 - - 25 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 1 - - 2 - - 34 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 1 - - 2 - - 3 - - 30 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 1 - - 1 - - 5 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 1 - - 1 - - 12 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 1 - - 2 - - 4.25 - - 22 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 1 - - 2 - - 4 - - 46 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 1 - - 2 - - 4 - - 52 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 1 - - 2 - - 25 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 1 - - 2 - - 19 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 1 - - 2 - - 4 - - 58 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 1 - - 2 - - 4 - - 50 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 1 - - 3 - - 5 - - 108 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 1 - - 2 - - 4 - - 88 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 1 - - 2 - - 4 - - 71 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 1 - - 2 - - 4 - - 53 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 1 - - 3 - - 13 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 1 - - 2 - - 4 - - 11 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 1 - - 2 - - 28 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 1 - - 1 - - 3 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 1 - - 2 - - 21 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 1 - - 2 - - 40 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 1 - - 2 - - 26 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 1 - - 1 - - 28 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 1 - - 2 - - 31 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 1 - - 1 - - 2 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 1 - - 2 - - 4 - - 54 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 1 - - 3 - - 6 - - 82 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 1 - - 2 - - 4 - - 54 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0.5 - - 2 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 1 - - 1 - - 3 - - 63 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 1 - - 2 - - 11 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 1 - - 2 - - 3 - - 27 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 1 - - 1 - - 19 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 1 - - 2 - - 38 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 1 - - 2 - - 16 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 1 - - 2 - - 24 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 1 - - 2 - - 24 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 1 - - 2 - - 10 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 1 - - 2 - - 22 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 1 - - 2 - - 16 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 1 - - 2 - - 21 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0.5 - - 1 - - 4 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 1 - - 1 - - 8 -- hgnc_id: "HGNC:14825" - ensembl_gene_id: ENSG00000186092 - ensembl_gene_version: "4" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 1 - - 2 - - 31 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 1 - - 2 - - 41 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 1 - - 2 - - 3 - - 87 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 1 - - 1 - - 7 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 1 - - 2 - - 7 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 1 - - 25 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 1 - - 2 - - 15 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 1 - - 3 - - 6 - - 103 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 1 - - 3 - - 5 - - 96 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 1 - - 3 - - 5 - - 82 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 1 - - 3 - - 26 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 1 - - 2 - - 26 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 1 - - 3 - - 4 - - 75 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 1 - - 2 - - 5 - - 91 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 2 - - 4 - - 6 - - 105 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 2 - - 3 - - 5 - - 86 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 1 - - 3 - - 5 - - 133 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 2 - - 3 - - 6 - - 109 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0.5 - - 2 - - 3 - - 35 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 1 - - 2 - - 5 - - 90 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 1 - - 2 - - 31 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 1 - - 1 - - 2 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 1 - - 2 - - 21 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 1 - - 3 - - 75 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 1 - - 2 - - 27 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 1 - - 2 - - 36 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 1 - - 2 - - 29 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 1 - - 1 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 1 - - 3 - - 5 - - 148 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 2 - - 4 - - 7 - - 212 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 1 - - 2 - - 4 - - 74 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0.75 - - 1 - - 12.5 - - 47 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 1 - - 2 - - 3 - - 67 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 1 - - 2 - - 16 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 1 - - 2 - - 4 - - 51 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 1 - - 1 - - 19 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 1 - - 1 - - 9 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 1 - - 1 - - 16 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 1 - - 2 - - 28 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 1 - - 2 - - 7 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 1 - - 2 - - 65 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 1 - - 2 - - 58 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 1 - - 2 - - 22 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 1 - - 2 - - 25 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 1 - - 3 - - 49 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 1 - - 2 - - 19 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 1 - - 2 - - 16 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 1 - - 13 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0.5 - - 1 - - 16 -- hgnc_id: "HGNC:48835" - ensembl_gene_id: ENSG00000233750 - ensembl_gene_version: "3" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 2 - - 3 - - 23 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 1 - - 3 - - 7 - - 102 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 2 - - 4 - - 25 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 1 - - 3 - - 8 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 2 - - 5 - - 41 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 27 - - 82 - - 172 - - 874 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 2 - - 4 - - 59 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 2 - - 4 - - 27 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 1 - - 2 - - 18 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 2 - - 4 - - 18 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 2 - - 4 - - 18 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 1 - - 2 - - 5 - - 21 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 1 - - 2 - - 5 - - 29 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 1 - - 3 - - 6 - - 26 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 2 - - 4 - - 17 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 1 - - 2 - - 4 - - 22 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 2 - - 4 - - 20 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 1 - - 3 - - 6 - - 19 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 1 - - 2 - - 5 - - 27 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 1 - - 2 - - 4 - - 16 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 2 - - 5 - - 22 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 2 - - 4 - - 19 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 2 - - 6 - - 47 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 1 - - 1 - - 4 - - 7 - - 9 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 1 - - 2 - - 4 - - 8.75 - - 17 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 1 - - 3 - - 22 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 2 - - 4 - - 43 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 2 - - 4 - - 30 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 5 - - 10 - - 18 - - 116 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 2 - - 4 - - 29 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 1 - - 2 - - 8 - - 15 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 2 - - 4 - - 19 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 2 - - 3.25 - - 43 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 1 - - 3 - - 5 - - 23 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 6 - - 11.5 - - 17.75 - - 26 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 1 - - 3 - - 5.75 - - 19 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 5 - - 10 - - 18 - - 109 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 1 - - 2 - - 19 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 2.75 - - 7 - - 13 - - 89 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 2 - - 4 - - 7 - - 42 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 3.5 - - 7 - - 13 - - 90 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 2 - - 5 - - 10 - - 45 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 2 - - 4.5 - - 8 - - 53 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 2 - - 5 - - 29 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 1 - - 2 - - 4 - - 36 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 1 - - 3 - - 6 - - 32 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 21 - - 38 - - 64 - - 432 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 2 - - 5.5 - - 40 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 1 - - 15 - - 23 - - 33 - - 80 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 2 - - 4 - - 8 - - 32 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 1 - - 3 - - 6 - - 21 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 2 - - 5.5 - - 12 - - 103 -- hgnc_id: "HGNC:48063" - ensembl_gene_id: ENSG00000222623 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 -- hgnc_id: "HGNC:55080" - ensembl_gene_id: ENSG00000279928 - ensembl_gene_version: "2" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 2 - - 25 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 1 - - 3 - - 20 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 2 - - 5 - - 29 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 1 - - 4 - - 8 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 1 - - 4 - - 10 - - 91 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 2 - - 15 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 1 - - 3 - - 21 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 2 - - 12 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 1 - - 2 - - 16 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 1 - - 2 - - 9 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 2 - - 6 - - 20 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 2 - - 6 - - 21 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 1 - - 3 - - 10 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 1 - - 2 - - 7 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 1 - - 3 - - 13 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 11 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 14 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 1 - - 3 - - 12 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 1 - - 2 - - 22 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 1 - - 4 - - 27 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 6 - - 23 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 2 - - 3 - - 5.25 - - 12 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 1 - - 4 - - 24 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 1 - - 3 - - 24 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 1 - - 4 - - 28 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 1 - - 3 - - 23 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 1 - - 5 - - 29 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 14 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 1 - - 3 - - 14 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 1 - - 3 - - 22 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 2 - - 5 - - 17 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 1.5 - - 7.5 - - 21 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 1 - - 3 - - 13 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 1 - - 4 - - 18 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 1 - - 3 - - 17 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 1 - - 4 - - 26 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 1 - - 3 - - 14 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 2 - - 14 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 1 - - 6 - - 39 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 2 - - 5 - - 26 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 1 - - 3 - - 17 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 1 - - 3 - - 21 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 1 - - 2 - - 12 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 1 - - 4 - - 26 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 3 - - 7 - - 45 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 1 - - 3 - - 20 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 34 - - 51 - - 72 - - 169 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 1 - - 4 - - 35 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0.5 - - 3 - - 29 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 3 - - 29 -- hgnc_id: "HGNC:53981" - ensembl_gene_id: ENSG00000279457 - ensembl_gene_version: "4" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 52 - - 180 - - 250 - - 341 - - 2365 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 31 - - 126 - - 199 - - 297 - - 920 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 37 - - 163.25 - - 228 - - 309.75 - - 795 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 108 - - 222 - - 256 - - 322 - - 483 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 60 - - 132 - - 188.5 - - 246 - - 471 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 11 - - 130 - - 200 - - 287.5 - - 776 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 52 - - 151.75 - - 209.5 - - 267 - - 847 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 60 - - 148.5 - - 212 - - 285.25 - - 1605 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 31 - - 141 - - 196 - - 254 - - 1989 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 20 - - 94.25 - - 132 - - 177.25 - - 433 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 29 - - 118.75 - - 156.5 - - 214.25 - - 455 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 27 - - 98.25 - - 151 - - 211.75 - - 472 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 134 - - 339 - - 475 - - 659 - - 1266 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 113 - - 367 - - 484 - - 644 - - 1427 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 65 - - 173 - - 245 - - 319.5 - - 779 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 52 - - 137 - - 187 - - 250 - - 527 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 27 - - 112 - - 163 - - 220 - - 570 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 25 - - 119.25 - - 169 - - 233 - - 974 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 17 - - 100 - - 146 - - 220 - - 431 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 18 - - 96 - - 142 - - 224 - - 702 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 24 - - 115.5 - - 171 - - 253.5 - - 533 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 33 - - 106 - - 157 - - 221 - - 661 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 38 - - 197 - - 277 - - 374 - - 1059 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 137 - - 160 - - 221 - - 423 - - 696 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 115 - - 246.25 - - 403.5 - - 486 - - 985 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 68 - - 221 - - 293 - - 388 - - 963 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 91 - - 194 - - 267.5 - - 359.25 - - 2157 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 42 - - 187 - - 265 - - 352 - - 2569 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 29 - - 149 - - 208 - - 286.5 - - 1191 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 35 - - 184 - - 250 - - 338 - - 1066 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 87 - - 162 - - 229 - - 431 - - 660 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 14 - - 96 - - 133 - - 187 - - 888 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 18 - - 69 - - 99 - - 141.25 - - 573 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 92 - - 193 - - 258 - - 339 - - 747 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 289 - - 317.5 - - 461.5 - - 631.75 - - 739 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 31 - - 99 - - 141 - - 194 - - 508 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 54 - - 195.25 - - 264.5 - - 354.75 - - 967 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 14 - - 91 - - 130 - - 184 - - 703 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 58 - - 253.5 - - 352 - - 477 - - 1334 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 118 - - 254.5 - - 360.5 - - 467.25 - - 1764 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 34 - - 106.75 - - 152.5 - - 209.75 - - 919 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 68 - - 310 - - 395 - - 548 - - 2109 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 109 - - 300 - - 405 - - 540 - - 1077 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 63 - - 172.25 - - 256.5 - - 335.75 - - 820 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 32 - - 83 - - 114 - - 153.25 - - 465 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 49 - - 244.75 - - 334 - - 461 - - 1398 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 48 - - 254 - - 355 - - 468 - - 1399 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 90 - - 208.5 - - 283 - - 382.5 - - 1111 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 116 - - 278 - - 381 - - 534 - - 1474 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 39 - - 132 - - 191 - - 250 - - 922 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 37 - - 321 - - 477 - - 631 - - 1633 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 73 - - 261 - - 351 - - 465 - - 1371 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 88 - - 220 - - 369.5 - - 500.75 - - 1031 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 59 - - 223 - - 297.5 - - 399.75 - - 922 -- hgnc_id: "HGNC:36176" - ensembl_gene_id: ENSG00000236679 - ensembl_gene_version: "2" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 1 - - 2 - - 21 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 1 - - 1 - - 6 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 1 - - 1 - - 6 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 1 - - 1 - - 2 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 1 - - 34 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 1 - - 2 - - 7 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 1 - - 2 - - 12 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 1 - - 2 - - 6 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 10 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 1 - - 1 - - 7 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 1 - - 2 - - 10 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 1 - - 2 - - 7 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 1 - - 2 - - 15 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 1 - - 2 - - 7 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 11 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 1 - - 2 - - 11 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 1 - - 2 - - 6 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 1 - - 1 - - 10 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 1 - - 1 - - 3 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 1 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 1 - - 12 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 1 - - 2 - - 10 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 1 - - 1 - - 2 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 1 - - 1 - - 6 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 1 - - 2 - - 5 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0.5 - - 1 - - 1 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 15 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 1 - - 2 - - 6 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 1 - - 2 - - 10 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 1 - - 2 - - 9 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 1 - - 1 - - 3 - - 8 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 1 - - 2 - - 14 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 1 - - 2 - - 3 - - 8 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 1 - - 1 - - 7 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0.5 - - 1 - - 5 -- hgnc_id: "HGNC:43955" - ensembl_gene_id: ENSG00000269732 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 1 - - 26 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 1 - - 2 - - 14 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 1 - - 2 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 1.5 - - 3 - - 16 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 1 - - 2 - - 22 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 2 - - 3 - - 30 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 1 - - 1.5 - - 15 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 1 - - 1 - - 20 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 1 - - 3 - - 31 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 1 - - 2 - - 31 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 1 - - 2 - - 3 - - 71 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 1 - - 2 - - 42 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 1 - - 2 - - 3 - - 53 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 2 - - 3 - - 39 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 1 - - 2 - - 15 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 1 - - 2 - - 12 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 1 - - 18 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 1 - - 1 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 1 - - 2 - - 22 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 1 - - 1 - - 19 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 1 - - 25 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 1 - - 25 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 1 - - 2 - - 38 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 1 - - 2 - - 4 - - 59 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 1 - - 3 - - 31 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0.25 - - 1 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 1 - - 2 - - 32 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 1 - - 2 - - 27 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 1 - - 14 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 1 - - 2 - - 12 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 6 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 1 - - 17 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 1 - - 12 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 1 - - 15 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 -- hgnc_id: "HGNC:37756" - ensembl_gene_id: ENSG00000233653 - ensembl_gene_version: "3" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 1 - - 54 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 1 - - 16 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 1 - - 2 - - 15 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 1 - - 2 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 1 - - 20 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 15 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 1 - - 2 - - 11 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 1 - - 2 - - 22 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 25 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 1 - - 2 - - 9 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 1 - - 2 - - 25 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 1 - - 2 - - 15 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 1 - - 2 - - 47 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 1 - - 2 - - 36 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 31 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 27 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 1 - - 2 - - 5 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 1 - - 14 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 1 - - 1 - - 3 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 1 - - 13 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 1 - - 2 - - 10 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 1 - - 10 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 1 - - 1 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 1 - - 1 - - 20 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 1 - - 2 - - 28 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 0 - - 1 - - 17 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 1 - - 21 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 1 - - 24 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 23 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 2 - - 8 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 1 - - 18 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 1 - - 14 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 1 - - 15 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 2 - - 7 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 2 - - 9 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 -- hgnc_id: "HGNC:42092" - ensembl_gene_id: ENSG00000225972 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 13 - - 71 - - 114 - - 184.5 - - 120344 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 7 - - 57 - - 99 - - 175 - - 82839 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 18 - - 100.75 - - 154.5 - - 258.5 - - 133090 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 25 - - 45 - - 57 - - 73 - - 3701 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 4 - - 29 - - 45 - - 66.75 - - 28984 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 19 - - 31 - - 59 - - 19141 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 5 - - 21.75 - - 36 - - 59 - - 30354 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 4 - - 28.75 - - 49 - - 92.5 - - 46064 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 2 - - 29.5 - - 51 - - 93 - - 31549 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 39 - - 148.75 - - 250 - - 361.25 - - 98198 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 34 - - 148 - - 224.5 - - 352.25 - - 135457 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 41 - - 169.5 - - 252.5 - - 458.75 - - 234255 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 20 - - 66 - - 122 - - 236.5 - - 125981 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 28 - - 83 - - 117 - - 185 - - 112405 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 36 - - 154 - - 224 - - 341 - - 157722 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 30 - - 133 - - 193 - - 329 - - 127154 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 36 - - 164 - - 240 - - 452 - - 177535 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 28 - - 125 - - 201.5 - - 362 - - 118602 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 18 - - 164 - - 244 - - 403.5 - - 111095 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 62 - - 192 - - 277 - - 447 - - 151699 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 24 - - 78.5 - - 148 - - 242.5 - - 76605 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 47 - - 158.5 - - 231 - - 377.5 - - 142412 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 7 - - 59 - - 98 - - 175.5 - - 107710 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 19 - - 27 - - 38 - - 40 - - 13237 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 12 - - 28.25 - - 36 - - 74.75 - - 8454 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 4 - - 51 - - 78 - - 124 - - 111019 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 4 - - 60 - - 105.5 - - 179.75 - - 118457 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 10 - - 53 - - 83 - - 154 - - 70392 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 3 - - 27 - - 47 - - 80 - - 42495 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 13 - - 51 - - 79 - - 131.5 - - 88857 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 19 - - 36 - - 37 - - 56 - - 24008 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 18 - - 123 - - 197 - - 340 - - 207477 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 21 - - 199.25 - - 328 - - 563.25 - - 271475 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 34 - - 117 - - 246 - - 466 - - 186189 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 82 - - 133.75 - - 153.5 - - 174 - - 228 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 12 - - 79.25 - - 118.5 - - 213 - - 69668 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 4 - - 37 - - 62.5 - - 111 - - 59065 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 23 - - 123 - - 187 - - 294.5 - - 155501 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 6 - - 36 - - 60 - - 102 - - 38106 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 2 - - 21 - - 35 - - 62.25 - - 40264 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 7 - - 41 - - 61 - - 92.25 - - 32612 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 8 - - 35.5 - - 57 - - 94 - - 41317 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 10 - - 44 - - 72 - - 121 - - 184372 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 9 - - 49.25 - - 72.5 - - 130 - - 59274 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 3 - - 18 - - 32.5 - - 57 - - 25446 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 11 - - 49 - - 78.5 - - 132 - - 62483 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 12 - - 55 - - 87 - - 146 - - 83407 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 8 - - 60 - - 99 - - 191.5 - - 61780 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 3 - - 31 - - 57 - - 84 - - 41162 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 16 - - 69 - - 110 - - 189 - - 98415 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 25 - - 78 - - 112 - - 172 - - 73819 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 1 - - 31 - - 54 - - 101 - - 89695 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 4 - - 25 - - 40.5 - - 82.75 - - 24834 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 5 - - 23 - - 37.5 - - 67.5 - - 30032 -- hgnc_id: "HGNC:42129" - ensembl_gene_id: ENSG00000225630 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 144 - - 17575 - - 24502 - - 32343.5 - - 706213 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 152 - - 18054 - - 26493 - - 39595 - - 227715 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 320 - - 23323 - - 30161.5 - - 42552.5 - - 444255 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 197 - - 9976 - - 13467 - - 19099 - - 47193 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 76 - - 4895.5 - - 6367.5 - - 8256.5 - - 37543 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 32 - - 989.5 - - 1511 - - 2465 - - 20639 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 86 - - 4699.25 - - 6835 - - 9836 - - 78307 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 119 - - 7478 - - 10790 - - 16997.75 - - 77756 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 96 - - 5188 - - 7796 - - 10999.5 - - 64621 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 644 - - 34509 - - 42835.5 - - 65094.25 - - 317592 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 544 - - 29926.5 - - 42840 - - 64024.25 - - 281973 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 753 - - 41236.25 - - 59108.5 - - 87660.5 - - 486968 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 323 - - 10948.5 - - 16312 - - 25425.5 - - 250395 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 133 - - 13905 - - 19314 - - 26778 - - 372803 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 477 - - 31947 - - 43345 - - 57748.5 - - 301225 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 294 - - 23986 - - 32839 - - 46481 - - 286740 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 823 - - 34630 - - 50515 - - 69435 - - 511289 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 843 - - 28973.5 - - 44465.5 - - 64621.25 - - 435569 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 532 - - 33514.75 - - 50787.5 - - 72573 - - 418591 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 1008 - - 44707 - - 63716 - - 87618 - - 498131 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 375 - - 22632 - - 36515 - - 51726 - - 210455 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 759 - - 37339.5 - - 52961 - - 71874.5 - - 326838 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 160 - - 14643 - - 23167 - - 33878.5 - - 177532 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 189 - - 5100 - - 7147 - - 8844 - - 14625 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 225 - - 5318.25 - - 7894 - - 11278.25 - - 16876 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 253 - - 15358 - - 21205 - - 27915 - - 171482 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 128 - - 16781.25 - - 22812.5 - - 30871.5 - - 302306 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 184 - - 14180 - - 20020 - - 28809.5 - - 209904 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 89 - - 6668 - - 9100 - - 13413.5 - - 218919 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 209 - - 15435 - - 20357 - - 27596 - - 144398 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 292 - - 7511 - - 9786 - - 13603 - - 15873 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 354 - - 29013 - - 43653 - - 61886 - - 470436 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 275 - - 40025.25 - - 56697.5 - - 81275.25 - - 517911 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 328 - - 28556 - - 45546 - - 66248 - - 286633 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 30924 - - 32004.75 - - 32703 - - 34574.75 - - 39176 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 227 - - 15857.5 - - 25167 - - 36765.25 - - 276645 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 152 - - 7306.5 - - 10088 - - 14159.5 - - 116093 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 319 - - 18517.5 - - 24904 - - 36009 - - 343942 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 106 - - 9309.5 - - 12398 - - 16537 - - 101142 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 177 - - 5240.5 - - 8064.5 - - 11029.25 - - 80536 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 225 - - 9075.75 - - 11759 - - 15895.5 - - 100807 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 194 - - 9901 - - 12862 - - 18611 - - 192567 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 174 - - 12303 - - 17641 - - 27373 - - 160590 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 151 - - 9843.25 - - 13733.5 - - 18916.5 - - 98766 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 60 - - 3708.25 - - 4666.5 - - 8925.5 - - 173215 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 157 - - 11070.75 - - 15110 - - 22058.25 - - 133150 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 177 - - 10758 - - 14755 - - 19450 - - 219424 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 210 - - 14745 - - 21595 - - 29177 - - 217555 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 179 - - 6700 - - 8756 - - 11733 - - 63424 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 212 - - 16500 - - 23540 - - 33303 - - 214203 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 222 - - 10961 - - 14721 - - 19720 - - 148307 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 181 - - 9057 - - 12226 - - 16709 - - 153007 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 140 - - 6587.75 - - 9137 - - 12951.25 - - 85440 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 139 - - 6443.25 - - 8205 - - 11988 - - 55495 -- hgnc_id: "HGNC:52014" - ensembl_gene_id: ENSG00000237973 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 162 - - 1123.5 - - 1543 - - 2211 - - 123347 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 102 - - 500 - - 1571 - - 2881 - - 159168 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 130 - - 2035 - - 4213 - - 6794.25 - - 344920 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 910 - - 1197 - - 1546 - - 1921 - - 3840 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 518 - - 1137.5 - - 1555.5 - - 2120.25 - - 70867 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 59 - - 241.5 - - 395 - - 681.5 - - 29017 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 85 - - 433 - - 762 - - 1268.25 - - 58100 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 86 - - 486.25 - - 1093 - - 1916.25 - - 77101 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 241 - - 882 - - 1201 - - 1753.5 - - 67596 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 244 - - 4433.75 - - 6761.5 - - 10574.25 - - 413132 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 542 - - 4531 - - 6387.5 - - 10997.25 - - 285168 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 692 - - 3395.25 - - 5905 - - 11625.75 - - 598743 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 234 - - 995.5 - - 1947 - - 3783.5 - - 441580 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 416 - - 1165 - - 1850 - - 3404 - - 388673 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 727 - - 4848.5 - - 6325 - - 9633.5 - - 582541 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 1046 - - 3330 - - 5261 - - 9925 - - 294670 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 1007 - - 4378 - - 7585 - - 11181 - - 540810 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 308 - - 3068.25 - - 5651 - - 10882.5 - - 326522 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 484 - - 3250.5 - - 5137 - - 10466.75 - - 278489 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 503 - - 3923 - - 6180 - - 12221 - - 333242 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 550 - - 1562 - - 2797 - - 5252.5 - - 179233 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 744 - - 3088.5 - - 5962 - - 10329.5 - - 127627 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 138 - - 1110.5 - - 1709 - - 2575.5 - - 108147 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 128 - - 317 - - 697 - - 776 - - 2357 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 83 - - 518.25 - - 930 - - 1292.75 - - 23240 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 121 - - 652 - - 1619 - - 2543 - - 239480 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 75 - - 1637.25 - - 3629.5 - - 6650.25 - - 316848 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 76 - - 1451.5 - - 2130 - - 2905 - - 157661 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 189 - - 1061.5 - - 1635 - - 2444 - - 109225 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 100 - - 1311.5 - - 2062 - - 3076 - - 120391 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 183 - - 786 - - 1009 - - 1697 - - 74892 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 323 - - 3725 - - 6123 - - 10356 - - 594905 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 320 - - 6021.25 - - 10778.5 - - 16678 - - 680351 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 310 - - 1685 - - 4857 - - 6928 - - 445134 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 1037 - - 1132.25 - - 1378 - - 2630.25 - - 5745 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 198 - - 2510.75 - - 3877 - - 6492.75 - - 269566 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 91 - - 723 - - 1287.5 - - 2042 - - 82837 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 639 - - 3096 - - 4464 - - 6681.5 - - 456414 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 66 - - 688.5 - - 946 - - 1384 - - 49053 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 32 - - 194.5 - - 709.5 - - 1259.5 - - 55352 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 74 - - 742.75 - - 1108.5 - - 1552.25 - - 61296 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 99 - - 371 - - 666 - - 1131.5 - - 34681 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 118 - - 673 - - 1119 - - 2045 - - 83015 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 507 - - 1282.75 - - 1817 - - 2791.5 - - 148595 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 296 - - 836.75 - - 1134 - - 1511.75 - - 69617 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 560 - - 1617 - - 2179.5 - - 3270 - - 186818 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 362 - - 1515 - - 2085 - - 2943 - - 116850 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 131 - - 1837.5 - - 3107 - - 5228.5 - - 203088 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 90 - - 1046 - - 1599 - - 2209 - - 131930 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 357 - - 1821 - - 2828 - - 4908 - - 219122 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 252 - - 844 - - 1244 - - 2031 - - 85668 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 59 - - 480 - - 1238 - - 2611 - - 152386 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 87 - - 343.75 - - 999 - - 1619.75 - - 76181 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 82 - - 474.5 - - 929 - - 1548.75 - - 74995 -- hgnc_id: "HGNC:52028" - ensembl_gene_id: ENSG00000229344 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 41 - - 136 - - 201 - - 294.5 - - 28648 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 26 - - 141 - - 217 - - 344 - - 39950 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 21 - - 268.5 - - 422 - - 675.75 - - 84103 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 71 - - 128 - - 168 - - 242 - - 697 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 44 - - 149.5 - - 210 - - 279.5 - - 24561 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 10 - - 48 - - 74 - - 121.5 - - 8992 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 4 - - 58 - - 88 - - 139.25 - - 15138 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 20 - - 90 - - 134 - - 200 - - 12785 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 17 - - 76.5 - - 116 - - 184 - - 13030 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 103 - - 430.5 - - 667.5 - - 932.25 - - 28785 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 123 - - 469.75 - - 696 - - 990.25 - - 59293 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 112 - - 518.75 - - 752 - - 1199.75 - - 75035 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 72 - - 192.5 - - 308 - - 520.5 - - 25745 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 82 - - 197 - - 289 - - 441 - - 26776 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 95 - - 416 - - 580 - - 835 - - 46886 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 124 - - 359 - - 582 - - 866 - - 30629 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 171 - - 493 - - 721 - - 1242 - - 59797 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 105 - - 420.25 - - 648 - - 1044.25 - - 43379 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 91 - - 483.25 - - 695 - - 1038 - - 50961 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 170 - - 611 - - 877 - - 1343 - - 105157 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 69 - - 256.5 - - 388 - - 681.5 - - 37532 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 223 - - 503.5 - - 728 - - 1051.5 - - 50768 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 37 - - 122 - - 200 - - 320 - - 16718 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 51 - - 68 - - 75 - - 89 - - 137 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 54 - - 67.5 - - 78.5 - - 113.25 - - 163 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 50 - - 168 - - 248 - - 377 - - 44527 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 49 - - 225.75 - - 369 - - 595.5 - - 57954 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 19 - - 176.5 - - 264 - - 407.5 - - 51839 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 26 - - 115.5 - - 188 - - 292 - - 30105 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 43 - - 175.5 - - 254 - - 404 - - 49371 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 74 - - 86 - - 111 - - 186 - - 267 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 56 - - 276 - - 451 - - 685 - - 78577 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 48 - - 569.5 - - 845 - - 1362.75 - - 131104 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 99 - - 368 - - 714 - - 1061 - - 31726 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 208 - - 353.5 - - 417.5 - - 526.75 - - 808 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 50 - - 266 - - 413.5 - - 713.75 - - 31419 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 17 - - 105 - - 160 - - 257.75 - - 24515 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 48 - - 266 - - 387 - - 573.5 - - 86086 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 25 - - 85 - - 135 - - 192 - - 10392 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 12 - - 57.75 - - 90.5 - - 124 - - 879 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 30 - - 94 - - 135 - - 194 - - 34547 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 37 - - 113 - - 181 - - 259 - - 15077 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 42 - - 147 - - 228 - - 336 - - 30839 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 29 - - 142 - - 204 - - 302.5 - - 11393 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 36 - - 109 - - 155 - - 218 - - 27817 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 40 - - 133 - - 189 - - 296 - - 31417 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 32 - - 131 - - 194 - - 290 - - 25376 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 22 - - 195.5 - - 296 - - 497 - - 45215 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 36 - - 113 - - 154 - - 228 - - 15474 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 62 - - 175 - - 267 - - 438 - - 101212 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 37 - - 132 - - 188 - - 289 - - 35398 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 20 - - 117 - - 176 - - 285 - - 32695 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 23 - - 72.75 - - 108.5 - - 162.75 - - 2680 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 20 - - 84 - - 112 - - 169 - - 4267 -- hgnc_id: "HGNC:44571" - ensembl_gene_id: ENSG00000240409 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 2 - - 30 - - 57 - - 97 - - 1425 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 4 - - 34 - - 58 - - 109 - - 1835 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 3 - - 58 - - 104 - - 170.5 - - 959 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 9 - - 26 - - 30 - - 44 - - 103 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 4 - - 23 - - 38 - - 60.75 - - 810 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 6 - - 12 - - 20 - - 387 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 2 - - 14 - - 26 - - 41.25 - - 490 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 1 - - 20 - - 34 - - 65 - - 350 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 2 - - 17 - - 30 - - 52.5 - - 1391 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 9 - - 66 - - 119 - - 219 - - 4143 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 19 - - 66 - - 125.5 - - 217.25 - - 3495 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 14 - - 76.75 - - 133.5 - - 229 - - 5446 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 7 - - 29.5 - - 49 - - 96 - - 1121 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 4 - - 35 - - 64 - - 106 - - 1416 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 19 - - 71.5 - - 117 - - 188.5 - - 6685 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 2 - - 49 - - 91 - - 155 - - 1899 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 22 - - 82 - - 143 - - 232 - - 5236 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 18 - - 67.25 - - 124 - - 205 - - 2494 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 8 - - 68 - - 123.5 - - 219.75 - - 3883 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 16 - - 81 - - 143 - - 248 - - 3627 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 8 - - 34.5 - - 67 - - 118 - - 1072 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 11 - - 64.5 - - 122 - - 203 - - 7201 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 3 - - 28 - - 49 - - 97 - - 3030 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 6 - - 14 - - 18 - - 20 - - 36 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 3 - - 18.25 - - 26 - - 34.75 - - 60 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 2 - - 30 - - 52 - - 88 - - 1276 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 6 - - 39 - - 68 - - 131 - - 4699 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 3 - - 31.5 - - 54 - - 89 - - 2329 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 2 - - 20 - - 34 - - 60 - - 1489 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 5 - - 32 - - 54 - - 90 - - 1449 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 10 - - 18 - - 22 - - 28 - - 129 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 15 - - 82 - - 139 - - 263 - - 4907 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 4 - - 119 - - 214 - - 371.25 - - 7639 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 6 - - 55 - - 112 - - 231 - - 8719 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 30 - - 43.5 - - 48.5 - - 52 - - 61 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 7 - - 55.25 - - 100.5 - - 201.5 - - 2432 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 2 - - 18 - - 36.5 - - 62.5 - - 537 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 9 - - 61 - - 100 - - 162 - - 4810 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 3 - - 18 - - 34 - - 56 - - 888 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 12.75 - - 24.5 - - 41 - - 238 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 2 - - 21 - - 36 - - 59 - - 820 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 5 - - 20 - - 39 - - 65 - - 513 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 7 - - 30 - - 52 - - 99 - - 1430 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 1 - - 22.25 - - 39.5 - - 69.75 - - 372 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 1 - - 13 - - 24 - - 41.25 - - 522 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 4 - - 26 - - 46 - - 76.25 - - 2015 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 3 - - 25 - - 45 - - 77 - - 1842 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 4 - - 33.5 - - 81 - - 129 - - 3783 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 1 - - 16 - - 26 - - 52 - - 202 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 8 - - 39.5 - - 66 - - 115.5 - - 1975 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 3 - - 24 - - 39 - - 68 - - 1786 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 3 - - 23 - - 41 - - 73 - - 2993 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 6 - - 18 - - 29 - - 42.75 - - 551 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 4 - - 15 - - 28 - - 48.25 - - 233 -- hgnc_id: "HGNC:44575" - ensembl_gene_id: ENSG00000248527 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 144 - - 36331.5 - - 48487 - - 63333 - - 358956 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 126 - - 43311 - - 62486 - - 89047 - - 278437 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 404 - - 78895.5 - - 105324.5 - - 127162.25 - - 338031 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 240 - - 28289 - - 42271 - - 63466 - - 107347 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 7279 - - 21543.5 - - 30250.5 - - 38234 - - 107335 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 69 - - 5485 - - 8315 - - 12315.5 - - 82032 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 98 - - 15971.75 - - 22197 - - 30941.75 - - 73719 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 190 - - 21763.5 - - 29468.5 - - 43551.5 - - 190933 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 169 - - 18530 - - 25646 - - 32497.5 - - 146519 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 1167 - - 103644 - - 143564.5 - - 182864 - - 399742 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 834 - - 103568.75 - - 134910 - - 188060.25 - - 444250 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 1102 - - 127284.25 - - 168793.5 - - 228380.5 - - 647617 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 1135 - - 44280.5 - - 62954 - - 91628.5 - - 444880 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 563 - - 48536 - - 62777 - - 81912 - - 330983 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 820 - - 98046 - - 124716 - - 149708.5 - - 580754 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 501 - - 77980 - - 107747 - - 148812 - - 357367 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 1442 - - 117098 - - 154943 - - 198369 - - 473191 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 1149 - - 98375.75 - - 134235.5 - - 182981 - - 486177 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 699 - - 115765.5 - - 153188 - - 202660.5 - - 472163 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 1328 - - 140748 - - 198183 - - 257628 - - 608983 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 344 - - 56328 - - 82549 - - 129597.5 - - 254700 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 35002 - - 99952.5 - - 130362 - - 177345 - - 362221 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 337 - - 36135 - - 51433 - - 74606 - - 233275 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 245 - - 16496 - - 17749 - - 27346 - - 41397 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 214 - - 18151.5 - - 25783 - - 32841 - - 39469 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 407 - - 40862 - - 53343 - - 70879 - - 275059 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 223 - - 52319.75 - - 71176.5 - - 102833.5 - - 752747 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 498 - - 39295 - - 52828 - - 74177.5 - - 340032 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 204 - - 23816.5 - - 32642 - - 44409.5 - - 278977 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 342 - - 41949 - - 53854 - - 70972.5 - - 427597 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 553 - - 22544 - - 26485 - - 31815 - - 83751 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 611 - - 112496 - - 154873 - - 197578 - - 812273 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 1546 - - 161991 - - 216915 - - 315485.25 - - 808194 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 626 - - 96870 - - 167760 - - 244502 - - 674686 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 127977 - - 128127.75 - - 145800 - - 176841 - - 217098 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 280 - - 75019.75 - - 107677 - - 155179.75 - - 784723 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 230 - - 19668 - - 28981 - - 40302 - - 151115 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 713 - - 75907 - - 97000 - - 125572.5 - - 486262 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 115 - - 20564.5 - - 27339 - - 35710.5 - - 118573 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 213 - - 13524 - - 25503 - - 34247.75 - - 86489 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 264 - - 23113.75 - - 30071.5 - - 40397.25 - - 239940 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 218 - - 28503 - - 38845 - - 52975.5 - - 188008 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 681 - - 39503 - - 58901 - - 85048 - - 496065 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 298 - - 32349.25 - - 41798 - - 54472 - - 189533 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 118 - - 15648 - - 20230 - - 26999 - - 81895 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 314 - - 32615 - - 41896 - - 53890 - - 177917 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 180 - - 29683 - - 38387 - - 50054 - - 173379 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 1086 - - 43927 - - 63016 - - 88468.5 - - 223738 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 277 - - 25447 - - 35821 - - 46208 - - 87709 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 411 - - 50091 - - 67249 - - 90943 - - 291012 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 212 - - 32454 - - 41141 - - 56171 - - 213138 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 230 - - 28254 - - 38623 - - 51843 - - 240054 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 231 - - 19576.5 - - 28672.5 - - 35596.75 - - 104038 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 600 - - 18189.5 - - 26130.5 - - 38561.5 - - 82641 -- hgnc_id: "HGNC:52042" - ensembl_gene_id: ENSG00000198744 - ensembl_gene_version: "5" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 50 - - 172 - - 257 - - 412.5 - - 107248 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 24 - - 151 - - 258 - - 479 - - 27774 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 31 - - 306.25 - - 489 - - 928 - - 76432 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 50 - - 124 - - 137 - - 169 - - 366 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 53 - - 124.5 - - 181 - - 256 - - 17572 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 5 - - 40 - - 67 - - 114 - - 5575 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 16 - - 68 - - 104.5 - - 160 - - 13936 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 26 - - 97 - - 151.5 - - 250 - - 17334 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 14 - - 91.5 - - 154 - - 240.5 - - 23139 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 59 - - 446.75 - - 801.5 - - 2094.75 - - 56430 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 82 - - 441 - - 721.5 - - 1668.25 - - 69416 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 90 - - 374 - - 658.5 - - 1659 - - 70441 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 50 - - 168 - - 284 - - 557.5 - - 59047 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 58 - - 180 - - 282 - - 528 - - 23311 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 97 - - 364.5 - - 572 - - 1234 - - 69852 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 89 - - 317 - - 542 - - 1161 - - 75652 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 122 - - 495 - - 950 - - 2245 - - 84334 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 75 - - 426.75 - - 676.5 - - 1757.5 - - 133422 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 65 - - 415.25 - - 761 - - 2459.5 - - 66403 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 150 - - 413 - - 739 - - 2324 - - 60314 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 51 - - 166.5 - - 325 - - 595.5 - - 38770 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 99 - - 385 - - 620 - - 1195 - - 55975 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 47 - - 156.5 - - 250 - - 422 - - 27204 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 49 - - 84 - - 87 - - 95 - - 155 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 34 - - 75 - - 93.5 - - 118.5 - - 136 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 17 - - 145 - - 216 - - 369 - - 32630 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 27 - - 207.25 - - 364.5 - - 720.25 - - 56756 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 19 - - 144.5 - - 245 - - 431.5 - - 27406 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 20 - - 115.5 - - 176 - - 294.5 - - 117296 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 41 - - 154 - - 252 - - 410 - - 26137 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 66 - - 93 - - 112 - - 148 - - 476 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 75 - - 399 - - 738 - - 1646 - - 79095 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 62 - - 590.75 - - 1179 - - 3259.75 - - 159176 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 73 - - 449 - - 775 - - 3896 - - 102468 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 339 - - 361.5 - - 406 - - 1111.5 - - 3117 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 49 - - 227 - - 394.5 - - 845 - - 20435 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 14 - - 91 - - 154 - - 251 - - 17417 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 54 - - 283.5 - - 436 - - 837 - - 70817 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 20 - - 95 - - 159 - - 245 - - 38903 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 16 - - 67 - - 105 - - 152.75 - - 8974 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 23 - - 88.5 - - 135.5 - - 195.25 - - 21968 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 31 - - 120.5 - - 198 - - 293.5 - - 55582 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 36 - - 145 - - 220 - - 366 - - 53647 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 27 - - 139.25 - - 215.5 - - 354.25 - - 19373 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 26 - - 70 - - 97 - - 146.25 - - 11408 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 35 - - 164 - - 237 - - 410 - - 33798 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 41 - - 162 - - 251 - - 421 - - 32135 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 26 - - 185 - - 294 - - 566.5 - - 36221 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 23 - - 88 - - 139 - - 227 - - 18138 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 62 - - 178 - - 280 - - 532 - - 37355 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 43 - - 185 - - 265 - - 425 - - 32778 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 17 - - 133 - - 219 - - 370 - - 25732 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 21 - - 75.25 - - 110 - - 164.25 - - 10013 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 27 - - 84.5 - - 122 - - 221.5 - - 12578 -- hgnc_id: "HGNC:43956" - ensembl_gene_id: ENSG00000268663 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 1 - - 1 - - 9 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 1 - - 2 - - 15 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 21 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 1 - - 34 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 1 - - 2 - - 45 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 1 - - 1 - - 8 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 1 - - 2 - - 35 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 1 - - 2 - - 18 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 16 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 1 - - 2 - - 16 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 1 - - 2 - - 14 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 1 - - 14 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 1 - - 2 - - 92 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 1 - - 2 - - 74 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 1 - - 1 - - 6 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0.5 - - 1 - - 1 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 1 - - 2 - - 48 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 1 - - 1 - - 19 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 1 - - 5 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 1 - - 40 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 1 - - 12 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 1 - - 3 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 0.25 - - 3 -- hgnc_id: "HGNC:37742" - ensembl_gene_id: ENSG00000229376 - ensembl_gene_version: "3" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 4 - - 7 - - 10 - - 43 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 4 - - 7 - - 11 - - 47 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 6 - - 9 - - 13 - - 71 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 1 - - 3 - - 7 - - 9 - - 17 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 9 - - 13 - - 19 - - 35 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 1 - - 2 - - 3.5 - - 28 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 3 - - 5 - - 9 - - 30 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 4 - - 7 - - 11 - - 53 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 3 - - 5 - - 8 - - 29 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 6 - - 11 - - 16.25 - - 60 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 6 - - 10 - - 15 - - 218 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 1 - - 8 - - 12 - - 19 - - 78 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 2 - - 11 - - 16 - - 25.5 - - 64 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 13 - - 20 - - 28 - - 51 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 7 - - 12 - - 17 - - 88 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 6 - - 10 - - 16 - - 55 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 1 - - 7 - - 10 - - 17 - - 174 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 7 - - 12 - - 19 - - 119 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 10 - - 16 - - 25 - - 103 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 7 - - 11 - - 17 - - 82 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 5 - - 8 - - 12 - - 32 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 5 - - 8 - - 13 - - 61 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 4 - - 7 - - 12 - - 44 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 1 - - 2 - - 5 - - 20 - - 24 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 3 - - 7.5 - - 10 - - 12.75 - - 18 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 5 - - 8 - - 12 - - 46 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 5 - - 8 - - 13 - - 118 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 5 - - 8 - - 12.5 - - 42 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 3 - - 6 - - 9 - - 60 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 4 - - 7 - - 11 - - 45 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 4 - - 7 - - 10 - - 14 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 1 - - 6 - - 10 - - 15 - - 382 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 7 - - 12 - - 19 - - 132 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 5 - - 10 - - 14 - - 74 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 1 - - 4 - - 6.5 - - 9 - - 12 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 8 - - 12.5 - - 21 - - 82 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 3 - - 5 - - 9 - - 34 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 5 - - 8 - - 12.5 - - 108 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 7 - - 12 - - 17 - - 57 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 6 - - 11 - - 17 - - 51 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 4 - - 7 - - 11 - - 94 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 2 - - 15 - - 23 - - 31 - - 129 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 5 - - 9 - - 14 - - 44 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 5.25 - - 9 - - 12 - - 35 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 3 - - 5 - - 8 - - 24 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 3 - - 6 - - 9 - - 40 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 3 - - 6 - - 9 - - 42 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 5 - - 9 - - 14 - - 38 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 3 - - 6 - - 9 - - 24 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 5 - - 9 - - 13 - - 32 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 1 - - 15 - - 22 - - 29 - - 74 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 7 - - 12 - - 18 - - 49 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 4 - - 8 - - 12.75 - - 28 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 5 - - 8 - - 12 - - 36 -- hgnc_id: "HGNC:48162" - ensembl_gene_id: ENSG00000223181 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 -- hgnc_id: "HGNC:50701" - ensembl_gene_id: ENSG00000237491 - ensembl_gene_version: "8" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 15 - - 56 - - 78 - - 108 - - 499 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 8 - - 41 - - 56 - - 78 - - 272 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 16 - - 42.25 - - 63 - - 90 - - 257 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 27 - - 67 - - 78 - - 104 - - 151 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 67 - - 136.5 - - 182.5 - - 235 - - 452 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 9 - - 16 - - 27 - - 106 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 18 - - 61 - - 83 - - 113.25 - - 257 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 19 - - 66 - - 88 - - 125.5 - - 414 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 17 - - 58.5 - - 85 - - 123 - - 682 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 19 - - 55 - - 68.5 - - 83.75 - - 255 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 24 - - 63 - - 80 - - 100 - - 242 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 27 - - 72.25 - - 97 - - 130 - - 315 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 52 - - 251.5 - - 336 - - 432 - - 817 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 101 - - 238 - - 319 - - 396 - - 998 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 31 - - 79 - - 101 - - 130 - - 432 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 17 - - 74 - - 97 - - 128 - - 233 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 15 - - 64 - - 80 - - 105 - - 304 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 20 - - 74 - - 96 - - 126.75 - - 643 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 17 - - 82 - - 114 - - 145.75 - - 397 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 19 - - 61 - - 84 - - 118 - - 360 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 18 - - 53 - - 75 - - 95 - - 198 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 15 - - 50 - - 69 - - 84.5 - - 224 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 10 - - 53 - - 79 - - 114 - - 288 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 27 - - 67 - - 73 - - 144 - - 324 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 26 - - 113 - - 144 - - 177.25 - - 248 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 18 - - 65 - - 95 - - 126 - - 386 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 20 - - 88 - - 122 - - 161 - - 868 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 6 - - 55.5 - - 76 - - 112 - - 550 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 15 - - 50 - - 70 - - 97 - - 227 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 15 - - 54 - - 72 - - 98 - - 494 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 51 - - 74 - - 107 - - 152 - - 315 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 7 - - 39 - - 57 - - 78 - - 219 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 11 - - 41 - - 57 - - 81 - - 348 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 23 - - 55 - - 77 - - 109 - - 204 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 91 - - 97 - - 148 - - 198.75 - - 204 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 14 - - 47 - - 69 - - 103.75 - - 285 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 7 - - 57 - - 83 - - 115 - - 528 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 3 - - 33 - - 46 - - 66.5 - - 333 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 25 - - 121 - - 166 - - 218.5 - - 584 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 18 - - 80.75 - - 108 - - 165 - - 402 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 7 - - 36 - - 53 - - 75 - - 305 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 105 - - 234 - - 303 - - 401.5 - - 1310 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 26 - - 85 - - 123 - - 159 - - 437 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 34 - - 90 - - 114.5 - - 160.75 - - 330 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 14 - - 50.75 - - 70 - - 90 - - 225 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 19 - - 73.75 - - 108 - - 147 - - 572 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 16 - - 86 - - 121 - - 175 - - 799 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 28 - - 92.5 - - 118 - - 158 - - 478 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 22 - - 94 - - 124 - - 159 - - 407 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 3 - - 50.5 - - 71 - - 101 - - 204 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 102 - - 400 - - 538 - - 684 - - 1454 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 28 - - 99 - - 134 - - 179 - - 752 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 31 - - 93 - - 131.5 - - 166.75 - - 508 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 19 - - 60 - - 90 - - 121 - - 273 -- hgnc_id: "HGNC:32236" - ensembl_gene_id: ENSG00000177757 - ensembl_gene_version: "2" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 5 - - 51 - - 73 - - 103 - - 332 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 2 - - 24 - - 35 - - 54 - - 214 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 13 - - 41.25 - - 57 - - 84 - - 189 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 16 - - 21 - - 28 - - 37 - - 55 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 2 - - 17 - - 25 - - 32.75 - - 95 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 2 - - 3 - - 6 - - 35 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 5 - - 29 - - 41 - - 57.25 - - 197 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 4 - - 24 - - 33 - - 48 - - 208 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 4 - - 43 - - 60 - - 87 - - 382 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 1 - - 9 - - 13 - - 19 - - 80 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 2 - - 8.75 - - 12 - - 19 - - 101 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 2 - - 10 - - 14 - - 19 - - 60 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 9 - - 34.5 - - 48 - - 63 - - 211 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 17 - - 43 - - 56 - - 74 - - 247 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 1 - - 9 - - 13 - - 18.5 - - 197 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 7 - - 11 - - 17 - - 138 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 2 - - 8 - - 12 - - 18 - - 101 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 1 - - 12 - - 19 - - 26.75 - - 132 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 10 - - 16 - - 24 - - 130 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 8 - - 13 - - 19 - - 105 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 7 - - 12 - - 18 - - 104 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 2 - - 7 - - 12 - - 16.5 - - 115 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 2 - - 25 - - 38 - - 57 - - 266 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 3 - - 23 - - 32 - - 34 - - 59 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 20 - - 21.25 - - 26 - - 33.25 - - 47 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 2 - - 17 - - 24 - - 34 - - 100 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 3 - - 16.25 - - 24 - - 34 - - 107 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 1 - - 18 - - 26 - - 36 - - 144 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 8 - - 14 - - 20 - - 87 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 2 - - 12.5 - - 19 - - 27 - - 128 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 13 - - 17 - - 30 - - 45 - - 103 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 1 - - 15 - - 21 - - 31 - - 118 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 1 - - 9 - - 13.5 - - 20 - - 74 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 1 - - 10 - - 16 - - 27 - - 68 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 4 - - 7 - - 10 - - 16.25 - - 29 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 4 - - 7 - - 11 - - 55 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 13 - - 19 - - 28 - - 107 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 8 - - 13 - - 19 - - 78 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 1 - - 29 - - 39 - - 56 - - 162 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 15 - - 24.5 - - 39 - - 195 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 6 - - 9 - - 14 - - 44 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 3 - - 19 - - 29 - - 40 - - 264 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 3 - - 18 - - 28 - - 37 - - 131 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 2 - - 18 - - 26 - - 34.75 - - 116 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 7 - - 24 - - 34 - - 48 - - 240 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 1 - - 20 - - 28 - - 39 - - 214 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 2 - - 25 - - 36 - - 52 - - 152 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 3 - - 16 - - 22 - - 30.5 - - 86 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 2 - - 8 - - 13 - - 19 - - 52 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 2 - - 11 - - 17 - - 25 - - 94 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 14 - - 47 - - 61 - - 76 - - 237 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 1 - - 19 - - 29 - - 45 - - 179 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 3 - - 16 - - 25.5 - - 36.5 - - 92 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 6 - - 16 - - 24 - - 38.25 - - 87 -- hgnc_id: "HGNC:49377" - ensembl_gene_id: ENSG00000228794 - ensembl_gene_version: "8" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 519 - - 1206 - - 1528 - - 2040.5 - - 9892 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 465 - - 1201 - - 1753 - - 2468 - - 14105 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 523 - - 816.5 - - 1033 - - 1361.5 - - 2851 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 688 - - 1429 - - 1695 - - 2063 - - 3231 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 349 - - 739 - - 925 - - 1120.5 - - 2411 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 33 - - 132 - - 205 - - 326.5 - - 1293 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 650 - - 1228 - - 1473 - - 1912 - - 4205 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 673 - - 1306.75 - - 1613.5 - - 2051 - - 9369 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 373 - - 1569.5 - - 1979 - - 2463.5 - - 6935 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 233 - - 702.25 - - 907 - - 1190.5 - - 3047 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 337 - - 1000.25 - - 1480.5 - - 2077 - - 6774 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 214 - - 778.25 - - 1131 - - 1602.25 - - 3548 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 1282 - - 3733.5 - - 4893 - - 6086 - - 12482 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 1615 - - 3143 - - 3856 - - 4667 - - 10276 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 408 - - 1159 - - 1660 - - 2166 - - 7159 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 458 - - 1503 - - 2081 - - 2892 - - 10768 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 215 - - 694 - - 1025 - - 1390 - - 3036 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 340 - - 946.25 - - 1224.5 - - 1734 - - 9637 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 181 - - 874.25 - - 1389 - - 1936 - - 4759 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 173 - - 633 - - 1032 - - 1446 - - 4379 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 181 - - 580 - - 743 - - 993 - - 2635 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 257 - - 553.5 - - 705 - - 985 - - 2138 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 510 - - 992 - - 1283 - - 1822.5 - - 15524 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 432 - - 1181 - - 1249 - - 1749 - - 2008 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 919 - - 1076 - - 1439 - - 1602.25 - - 2460 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 607 - - 1454 - - 1927 - - 2376 - - 5208 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 175 - - 807.5 - - 1268.5 - - 1788 - - 7018 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 509 - - 1512 - - 1903 - - 2437 - - 10475 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 324 - - 573.5 - - 703 - - 884 - - 2035 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 423 - - 1526.5 - - 1856 - - 2342.5 - - 10319 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 491 - - 1082 - - 1224 - - 1474 - - 2178 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 862 - - 2796 - - 3850 - - 5161 - - 12768 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 183 - - 2405.75 - - 4879.5 - - 7589 - - 20642 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 306 - - 569 - - 707 - - 969 - - 2047 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 672 - - 851.25 - - 1185.5 - - 1592.25 - - 1989 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 237 - - 754 - - 1066.5 - - 1457.5 - - 7662 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 210 - - 870 - - 1125.5 - - 1412 - - 3884 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 628 - - 2435 - - 3177 - - 4261 - - 14569 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 286 - - 849 - - 1024 - - 1237 - - 8363 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 531 - - 866.75 - - 1100 - - 1490.75 - - 6973 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 204 - - 492.75 - - 655 - - 850 - - 2840 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 910 - - 2692.5 - - 3671 - - 4747.5 - - 9910 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 375 - - 1297 - - 1557 - - 1981 - - 6589 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 350 - - 586 - - 754 - - 928.5 - - 3616 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 307 - - 564.75 - - 739.5 - - 1025.25 - - 3001 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 326 - - 615 - - 756 - - 939.25 - - 2331 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 275 - - 677 - - 820 - - 982 - - 7113 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 308 - - 727 - - 1004 - - 1542.5 - - 5091 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 372 - - 764 - - 938 - - 1185 - - 2353 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 303 - - 571 - - 793 - - 1385 - - 5276 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 660 - - 1442 - - 1704 - - 2088 - - 5127 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 251 - - 940 - - 1169 - - 1464 - - 3521 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 630 - - 1184 - - 1435.5 - - 1757 - - 3641 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 385 - - 767 - - 961 - - 1341.75 - - 2388 -- hgnc_id: "HGNC:26211" - ensembl_gene_id: ENSG00000225880 - ensembl_gene_version: "5" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 27 - - 97 - - 132 - - 179.5 - - 951 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 19 - - 71 - - 111 - - 165 - - 407 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 18 - - 63.25 - - 106.5 - - 197 - - 637 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 47 - - 137 - - 187 - - 300 - - 387 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 34 - - 100.25 - - 140 - - 188.75 - - 483 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 2 - - 26 - - 44 - - 75 - - 366 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 23 - - 92.75 - - 172.5 - - 347.75 - - 944 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 34 - - 91.25 - - 157 - - 293 - - 1206 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 20 - - 134 - - 193 - - 271.5 - - 860 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 12 - - 48 - - 66.5 - - 87 - - 285 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 11 - - 47 - - 64.5 - - 85.25 - - 188 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 13 - - 62.25 - - 91 - - 118.75 - - 363 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 65 - - 242 - - 329 - - 437.5 - - 1235 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 85 - - 219 - - 294 - - 396 - - 1160 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 22 - - 59 - - 81 - - 105.5 - - 280 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 16 - - 50 - - 69 - - 94 - - 174 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 17 - - 58 - - 82 - - 108 - - 318 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 21 - - 56.25 - - 87 - - 114 - - 698 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 7 - - 62.25 - - 90 - - 119.5 - - 398 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 15 - - 50 - - 73 - - 104 - - 311 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 19 - - 76 - - 109 - - 151.5 - - 399 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 17 - - 51.5 - - 71 - - 100 - - 254 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 23 - - 86 - - 123 - - 185.5 - - 605 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 114 - - 181 - - 224 - - 415 - - 474 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 68 - - 189.5 - - 278.5 - - 357.25 - - 594 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 25 - - 103 - - 171 - - 252 - - 714 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 35 - - 107.25 - - 151.5 - - 221.75 - - 931 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 22 - - 94 - - 149 - - 246.5 - - 951 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 21 - - 72.5 - - 123 - - 199 - - 695 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 36 - - 90 - - 137 - - 218 - - 1095 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 47 - - 94 - - 103 - - 328 - - 626 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 16 - - 71 - - 117 - - 183 - - 581 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 10 - - 49 - - 75 - - 113.25 - - 519 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 37 - - 130 - - 176 - - 216 - - 639 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 45 - - 126 - - 271.5 - - 439.75 - - 589 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 10 - - 80.25 - - 112 - - 164.25 - - 428 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 20 - - 108 - - 173 - - 246.75 - - 634 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 7 - - 49.5 - - 73 - - 107 - - 409 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 35 - - 214.5 - - 281 - - 366.5 - - 874 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 50 - - 201 - - 279.5 - - 434.5 - - 1106 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 12 - - 30 - - 44 - - 73.25 - - 371 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 57 - - 215.5 - - 262 - - 339 - - 2007 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 82 - - 273 - - 355 - - 478 - - 997 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 40 - - 118 - - 159 - - 203.75 - - 527 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 22 - - 71 - - 99 - - 132 - - 687 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 13 - - 78 - - 129 - - 213.25 - - 676 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 21 - - 96 - - 132 - - 185 - - 585 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 30 - - 94 - - 128 - - 206 - - 1022 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 36 - - 127 - - 183 - - 266 - - 1111 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 17 - - 64.5 - - 89 - - 133 - - 478 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 51 - - 170 - - 221 - - 289 - - 1105 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 51 - - 162 - - 232 - - 313 - - 1153 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 28 - - 137.5 - - 226 - - 366.75 - - 1019 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 76 - - 178.75 - - 253.5 - - 357.25 - - 668 -- hgnc_id: "HGNC:27635" - ensembl_gene_id: ENSG00000230368 - ensembl_gene_version: "2" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 1 - - 2 - - 4 - - 31 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 1 - - 2 - - 4 - - 33 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 1 - - 2 - - 4 - - 23 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 1 - - 2 - - 3 - - 6 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 1 - - 3 - - 12 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 1 - - 2 - - 68 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 1 - - 3 - - 13 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 1 - - 2 - - 3 - - 16 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 2 - - 3 - - 39 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 2.75 - - 5 - - 8 - - 53 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 3 - - 6 - - 10 - - 44 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 3 - - 5 - - 8 - - 75 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 10 - - 17 - - 23 - - 74 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 12 - - 17 - - 27 - - 80 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 4 - - 7 - - 11 - - 48 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 4 - - 6 - - 10 - - 42 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 2 - - 5 - - 8 - - 67 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 3 - - 6 - - 10 - - 111 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 3 - - 6 - - 10 - - 37 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 3 - - 5 - - 8 - - 125 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 1 - - 3 - - 5 - - 25 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 2 - - 3 - - 6 - - 30 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 1 - - 3 - - 5 - - 51 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 3 - - 22 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 1 - - 1 - - 1.5 - - 5.75 - - 12 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 1 - - 2 - - 4 - - 29 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 1 - - 2.5 - - 5 - - 22 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 1 - - 2 - - 4 - - 23 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 1 - - 2 - - 4 - - 28 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 1 - - 2 - - 4 - - 28 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 2 - - 2 - - 13 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 2 - - 5 - - 8 - - 58 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 4 - - 7 - - 12 - - 61 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 2 - - 4 - - 7 - - 30 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 1.5 - - 2 - - 2.25 - - 3 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 1 - - 2 - - 4 - - 80 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 1 - - 2 - - 4 - - 61 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 5 - - 10 - - 17 - - 111 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0.5 - - 2 - - 4 - - 49 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 2 - - 3 - - 18 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 2 - - 3 - - 32 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 3 - - 6 - - 12 - - 94 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 1 - - 3 - - 7 - - 42 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 1 - - 3 - - 18 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 1 - - 2 - - 6 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 5 - - 11 - - 22 - - 154 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 3 - - 7 - - 13 - - 134 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 1 - - 3 - - 5.5 - - 17 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 1 - - 3 - - 19 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 1 - - 2 - - 4 - - 23 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 5 - - 7 - - 11 - - 31 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 1 - - 2 - - 4 - - 140 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 1 - - 2 - - 3 - - 12 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 2 - - 5 - - 13.25 - - 154 -- hgnc_id: "HGNC:32337" - ensembl_gene_id: ENSG00000234711 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 1 - - 3 - - 15 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 1 - - 3 - - 21 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 1 - - 2 - - 4 - - 14 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 1 - - 2 - - 4 - - 8 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 1 - - 3 - - 29 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 1 - - 2 - - 42 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 1 - - 2 - - 47 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 1 - - 2 - - 30 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 2 - - 4 - - 7 - - 27 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 2 - - 4.5 - - 7 - - 28 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 2 - - 4 - - 6 - - 31 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 1 - - 2 - - 4 - - 12 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 1 - - 2 - - 4 - - 14 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 3 - - 5 - - 8 - - 41 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 2 - - 4 - - 7 - - 26 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 2 - - 4 - - 6 - - 58 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 2 - - 4 - - 7 - - 46 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 3 - - 5 - - 7 - - 38 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 2 - - 4 - - 6 - - 31 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 1 - - 2 - - 4 - - 10 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 1 - - 2 - - 5 - - 26 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 2 - - 4 - - 54 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 1 - - 2 - - 6 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 1.5 - - 2 - - 2 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 1 - - 2 - - 3 - - 23 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 1 - - 2.5 - - 4 - - 38 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 1 - - 3 - - 23 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0.5 - - 2 - - 3 - - 28 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 1 - - 3 - - 21 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 1 - - 2 - - 3 - - 3 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 2 - - 4 - - 7 - - 47 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 2 - - 5 - - 9 - - 63 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 1 - - 3 - - 5 - - 38 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0.75 - - 1 - - 1.5 - - 3 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 1 - - 2 - - 4 - - 31 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 1 - - 3 - - 30 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 1 - - 3 - - 5 - - 45 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 1 - - 2 - - 32 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 1 - - 2 - - 21 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 1 - - 3 - - 23 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 2 - - 5 - - 8 - - 36 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 2 - - 4 - - 40 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 1 - - 2 - - 19 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 1 - - 2 - - 9 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 2 - - 5 - - 10 - - 56 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 2 - - 3 - - 7 - - 34 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 2 - - 4 - - 6 - - 31 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 2 - - 4 - - 34 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 1 - - 2 - - 4 - - 19 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 4 - - 8 - - 12 - - 121 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 1 - - 3 - - 46 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 1 - - 2 - - 21 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 1 - - 2 - - 5 - - 41 -- hgnc_id: "HGNC:53933" - ensembl_gene_id: ENSG00000223764 - ensembl_gene_version: "2" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 9 - - 19 - - 48.5 - - 724 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 2 - - 27 - - 61 - - 130 - - 944 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 11 - - 97 - - 154.5 - - 245.75 - - 1997 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 12 - - 117 - - 398 - - 700 - - 2595 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 6 - - 12.5 - - 23 - - 89 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 1 - - 3 - - 13 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 6 - - 71.75 - - 148 - - 278.25 - - 1383 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 4 - - 41.75 - - 82 - - 170.25 - - 1208 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 3 - - 100 - - 231 - - 452.5 - - 8461 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 13 - - 18.5 - - 30.25 - - 200 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 13 - - 20 - - 30.25 - - 88 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 4 - - 25 - - 37 - - 53 - - 219 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 9 - - 14 - - 23 - - 59 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 11 - - 17 - - 25 - - 81 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 3 - - 20 - - 32 - - 48 - - 189 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 4 - - 12 - - 20 - - 28 - - 122 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 2 - - 27 - - 42 - - 69 - - 207 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 8 - - 51 - - 97 - - 136.75 - - 1365 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 4 - - 20 - - 30 - - 43 - - 681 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 2 - - 21 - - 29 - - 50 - - 172 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 6 - - 57.5 - - 101 - - 147 - - 447 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 3 - - 19 - - 31 - - 56 - - 178 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 1 - - 23 - - 51 - - 95 - - 1054 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 20 - - 27 - - 65 - - 185 - - 251 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 52 - - 67.75 - - 104 - - 263.25 - - 851 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 11 - - 63 - - 103 - - 173 - - 819 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 7 - - 57 - - 102 - - 172.75 - - 793 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 6 - - 81.5 - - 155 - - 300 - - 2093 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 3 - - 29 - - 55 - - 114.5 - - 625 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 5 - - 83 - - 155 - - 282.5 - - 2116 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 168 - - 234 - - 287 - - 366 - - 1291 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 12 - - 144 - - 255 - - 392 - - 1584 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 10 - - 19 - - 34 - - 1243 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 66 - - 217 - - 371 - - 528 - - 1428 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 348 - - 538.5 - - 1195 - - 1822.5 - - 1926 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 6 - - 45.25 - - 72 - - 102 - - 1152 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 3 - - 46 - - 83.5 - - 158.5 - - 2018 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 3 - - 6 - - 12 - - 260 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 3 - - 75.5 - - 120 - - 197.5 - - 795 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 8 - - 16 - - 34 - - 1204 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 9 - - 16 - - 28 - - 212 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 27 - - 382 - - 654 - - 1067.5 - - 4075 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 41 - - 314 - - 582 - - 1269 - - 7611 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 12 - - 23 - - 40 - - 167 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 13 - - 42.5 - - 94 - - 1609 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 16 - - 28 - - 50 - - 402 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 3 - - 27 - - 49 - - 86 - - 733 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 19 - - 74 - - 130 - - 237 - - 879 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 29 - - 412 - - 595 - - 814 - - 3311 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 9 - - 54 - - 90 - - 154 - - 896 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 21 - - 115 - - 155 - - 204 - - 744 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 10 - - 80 - - 137 - - 221 - - 3649 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 1 - - 91.75 - - 161.5 - - 314 - - 1652 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 2 - - 45.75 - - 122 - - 282.75 - - 1147 -- hgnc_id: "HGNC:28706" - ensembl_gene_id: ENSG00000187634 - ensembl_gene_version: "11" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 2 - - 22.5 - - 42 - - 84 - - 1126 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 3 - - 132 - - 267 - - 508 - - 2766 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 17 - - 249.5 - - 380 - - 615.25 - - 4361 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 46 - - 430 - - 1274 - - 1958 - - 7296 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 5 - - 9 - - 12 - - 33 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 2 - - 4 - - 7.5 - - 57 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 20 - - 205 - - 402.5 - - 722.5 - - 5115 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 12 - - 126 - - 235.5 - - 471.25 - - 5754 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 14 - - 231 - - 541 - - 1133.5 - - 11754 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 11 - - 42.5 - - 65 - - 106.75 - - 425 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 8 - - 40 - - 56.5 - - 88.25 - - 497 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 27 - - 158.25 - - 274 - - 390.75 - - 1293 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 7 - - 24.5 - - 38 - - 55 - - 126 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 7 - - 32 - - 47 - - 66 - - 219 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 15 - - 63 - - 91 - - 138.5 - - 481 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 12 - - 37 - - 54 - - 80 - - 446 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 20 - - 65 - - 106 - - 167 - - 1227 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 20 - - 247.5 - - 415 - - 656 - - 6816 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 14 - - 81 - - 133.5 - - 209.75 - - 2012 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 10 - - 111 - - 172 - - 262 - - 694 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 17 - - 124.5 - - 222 - - 372 - - 3253 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 26 - - 73.5 - - 126 - - 221 - - 817 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 2 - - 71 - - 139 - - 281.5 - - 1873 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 66 - - 255 - - 422 - - 586 - - 2654 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 320 - - 418.75 - - 580.5 - - 1187.5 - - 2119 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 27 - - 235 - - 364 - - 547 - - 5504 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 40 - - 220.75 - - 387 - - 662 - - 2331 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 34 - - 261.5 - - 443 - - 842 - - 6799 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 16 - - 69 - - 115 - - 217 - - 1503 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 28 - - 237 - - 464 - - 773.5 - - 5488 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 653 - - 1162 - - 1312 - - 2802 - - 3345 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 35 - - 480 - - 812 - - 1278 - - 4035 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 6 - - 40 - - 67.5 - - 120.25 - - 3212 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 162 - - 730 - - 1115 - - 1564 - - 4388 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 1253 - - 1487.75 - - 2022.5 - - 2561.5 - - 2809 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 12 - - 113.25 - - 176 - - 302.75 - - 1531 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 14 - - 142 - - 259.5 - - 486.5 - - 4954 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 2 - - 18 - - 30 - - 58 - - 1369 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 39 - - 226.5 - - 347 - - 535.5 - - 2282 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 3 - - 51.75 - - 133.5 - - 242.25 - - 3916 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 5 - - 57 - - 88 - - 147.5 - - 1699 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 37 - - 1771 - - 2690 - - 4216 - - 14354 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 151 - - 736 - - 1279 - - 2335 - - 9185 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 5 - - 40 - - 69 - - 118 - - 508 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 1 - - 45.75 - - 122 - - 384 - - 8655 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 5 - - 29 - - 45 - - 75 - - 769 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 1 - - 40 - - 65 - - 105 - - 847 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 47 - - 276 - - 457 - - 824 - - 2967 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 192 - - 1037 - - 1444 - - 2152 - - 9499 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 31 - - 180 - - 314 - - 524.5 - - 2417 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 17 - - 448 - - 573 - - 768 - - 2440 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 32 - - 223 - - 386 - - 617 - - 10000 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 58 - - 425.25 - - 734 - - 1251 - - 15940 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 15 - - 173.5 - - 460 - - 1169.5 - - 4841 -- hgnc_id: "HGNC:24517" - ensembl_gene_id: ENSG00000188976 - ensembl_gene_version: "10" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 871 - - 2767 - - 3335 - - 4124.5 - - 15752 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 1233 - - 2572 - - 3160 - - 4096 - - 11619 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 869 - - 2300.5 - - 2881 - - 3575 - - 8432 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 2743 - - 3097 - - 3996 - - 4602 - - 7888 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 2194 - - 5438.25 - - 7048.5 - - 8923.75 - - 17095 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 115 - - 728 - - 1120 - - 1751 - - 6191 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 1387 - - 2449.25 - - 2910 - - 3583.25 - - 10751 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 1590 - - 2435.75 - - 2923 - - 3669.25 - - 14235 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 479 - - 2766 - - 3381 - - 4168.5 - - 18796 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 347 - - 1215.5 - - 1740 - - 2269.5 - - 5186 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 665 - - 1681.5 - - 2401.5 - - 3389.25 - - 8174 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 325 - - 1524.75 - - 2169 - - 2951.25 - - 5551 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 1416 - - 3740 - - 4779 - - 6068.5 - - 10402 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 1508 - - 3436 - - 4121 - - 4959 - - 8567 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 775 - - 2311.5 - - 3271 - - 4037 - - 10483 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 563 - - 2395 - - 3340 - - 4534 - - 15355 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 323 - - 1426 - - 1983 - - 2869 - - 6889 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 388 - - 1776.25 - - 2331.5 - - 3265 - - 18659 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 263 - - 1677.5 - - 2453.5 - - 3206.75 - - 7256 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 327 - - 1276 - - 2045 - - 2722 - - 7887 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 388 - - 1540 - - 1959 - - 2443.5 - - 5013 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 674 - - 1273 - - 1740 - - 2573 - - 5545 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 1066 - - 2914 - - 3690 - - 4597 - - 9777 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 2792 - - 2989 - - 3309 - - 3738 - - 5919 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 2709 - - 2953.5 - - 4074 - - 5123.25 - - 5534 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 1256 - - 2782 - - 3393 - - 4077 - - 8434 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 1508 - - 2844 - - 3490.5 - - 4190.75 - - 29692 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 1173 - - 2726.5 - - 3405 - - 4104 - - 14646 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 2112 - - 4085.5 - - 5080 - - 6357 - - 13523 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 741 - - 2720.5 - - 3331 - - 4090.5 - - 17296 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 3132 - - 3287 - - 3555 - - 4020 - - 5357 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 718 - - 2163 - - 2632 - - 3277 - - 7370 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 168 - - 1616.75 - - 2503.5 - - 3395.5 - - 9219 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 1411 - - 2073 - - 2773 - - 3712 - - 13039 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 3007 - - 3671.5 - - 4296.5 - - 4972 - - 5788 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 808 - - 1775 - - 2302 - - 3025.75 - - 11476 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 595 - - 2432.5 - - 3106 - - 4157.75 - - 10373 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 1058 - - 3572.5 - - 4971 - - 6755 - - 16780 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 799 - - 3048.5 - - 3644 - - 4463.5 - - 21048 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 1305 - - 2708 - - 3301 - - 3972.75 - - 6746 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 857 - - 2025.75 - - 2612.5 - - 3477.5 - - 9040 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 1748 - - 2990 - - 3500 - - 4307.5 - - 11426 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 1298 - - 3023 - - 3855 - - 4536 - - 12372 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 1507 - - 2840.5 - - 3605 - - 4141.75 - - 9425 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 2046 - - 3995.5 - - 5784.5 - - 9465.25 - - 26005 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 1200 - - 4417 - - 5248 - - 6270.5 - - 13500 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 1602 - - 4750 - - 5684 - - 7063 - - 16961 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 1606 - - 2748.5 - - 3316 - - 4223 - - 8732 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 1922 - - 3101 - - 3658 - - 4451 - - 8764 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 1008 - - 2253 - - 2795 - - 3618.5 - - 9192 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 586 - - 5177 - - 6207 - - 7828 - - 17912 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 857 - - 3053 - - 3607 - - 4302 - - 9995 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 1547 - - 3266.25 - - 3874 - - 4624.5 - - 10582 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 1941 - - 3097.25 - - 3842 - - 4778.75 - - 10799 -- hgnc_id: "HGNC:24023" - ensembl_gene_id: ENSG00000187961 - ensembl_gene_version: "13" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 63 - - 518.5 - - 686 - - 910.5 - - 3087 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 139 - - 488 - - 670 - - 910 - - 3514 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 281 - - 543.5 - - 692.5 - - 937.75 - - 2965 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 530 - - 839 - - 1140 - - 1408 - - 2494 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 503 - - 1056.5 - - 1286 - - 1616.25 - - 3019 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 20 - - 183 - - 298 - - 475.5 - - 2902 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 288 - - 642.75 - - 824.5 - - 1027.25 - - 2596 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 237 - - 688 - - 861.5 - - 1088 - - 5036 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 58 - - 471 - - 634 - - 835 - - 4324 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 59 - - 245.75 - - 319.5 - - 395 - - 957 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 151 - - 349.75 - - 493 - - 668 - - 1970 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 95 - - 326.25 - - 448 - - 603.75 - - 1435 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 375 - - 1272.5 - - 1679 - - 2055 - - 5558 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 677 - - 1425 - - 1755 - - 2237 - - 6577 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 162 - - 716.5 - - 929 - - 1185 - - 3020 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 89 - - 499 - - 670 - - 908 - - 1927 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 65 - - 286 - - 398 - - 530 - - 1729 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 54 - - 360.5 - - 513.5 - - 679 - - 4148 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 67 - - 301.25 - - 440.5 - - 578.25 - - 1296 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 83 - - 296 - - 441 - - 581 - - 1296 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 61 - - 222 - - 312 - - 426.5 - - 1138 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 105 - - 203.5 - - 323 - - 462.5 - - 1504 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 196 - - 605 - - 847 - - 1114 - - 3072 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 706 - - 902 - - 1110 - - 1495 - - 2841 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 877 - - 899 - - 1331.5 - - 1970.25 - - 2296 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 213 - - 693 - - 896 - - 1157 - - 3079 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 238 - - 686.5 - - 880 - - 1108.5 - - 6061 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 225 - - 711 - - 921 - - 1193 - - 5300 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 243 - - 1031.5 - - 1329 - - 1769.5 - - 7070 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 115 - - 705 - - 922 - - 1164 - - 3662 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 426 - - 647 - - 796 - - 1195 - - 2451 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 110 - - 359 - - 468 - - 616 - - 1837 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 38 - - 242 - - 347 - - 458.25 - - 2077 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 384 - - 757 - - 906 - - 1353 - - 2749 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 983 - - 1027.25 - - 1311 - - 1782.25 - - 2389 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 168 - - 440.75 - - 537 - - 738 - - 2545 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 170 - - 738.25 - - 1008 - - 1345.75 - - 3019 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 20 - - 152 - - 212 - - 294 - - 979 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 82 - - 403.5 - - 546 - - 709.5 - - 1858 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 50 - - 123.5 - - 198 - - 321.5 - - 1275 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 165 - - 374 - - 492.5 - - 659 - - 2225 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 379 - - 1139 - - 1458 - - 1883.5 - - 6522 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 204 - - 871 - - 1159 - - 1512 - - 3302 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 367 - - 782.75 - - 996.5 - - 1274.25 - - 3435 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 247 - - 805.75 - - 1068.5 - - 1511.25 - - 3992 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 155 - - 898 - - 1138.5 - - 1495.25 - - 4282 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 302 - - 878 - - 1137 - - 1478 - - 4201 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 430 - - 771.5 - - 992 - - 1374.5 - - 2901 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 675 - - 1319 - - 1634 - - 1989 - - 4067 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 220 - - 589 - - 792 - - 1009.5 - - 2990 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 117 - - 1777 - - 2108 - - 2723 - - 5895 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 183 - - 730 - - 936 - - 1190 - - 3990 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 356 - - 739.75 - - 961 - - 1282.5 - - 3493 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 475 - - 841.5 - - 1099.5 - - 1410.25 - - 5033 -- hgnc_id: "HGNC:25284" - ensembl_gene_id: ENSG00000187583 - ensembl_gene_version: "10" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 2 - - 24 - - 35 - - 52 - - 1681 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 8 - - 28 - - 43 - - 66 - - 460 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 25 - - 98.25 - - 147 - - 211.5 - - 1049 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 32 - - 110 - - 316 - - 1609 - - 2923 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 22 - - 93.5 - - 139.5 - - 192.75 - - 439 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 21 - - 36 - - 57 - - 457 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 7 - - 27 - - 38.5 - - 58 - - 238 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 5 - - 34 - - 47 - - 76 - - 409 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 4 - - 25 - - 39 - - 60 - - 2086 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 1 - - 5 - - 10 - - 16.25 - - 135 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 6 - - 10 - - 14 - - 125 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 7 - - 12 - - 17 - - 177 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 7 - - 10 - - 15 - - 153 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 7 - - 10 - - 15 - - 109 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 8 - - 13 - - 18 - - 180 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 1 - - 6 - - 9 - - 15 - - 119 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 1 - - 7 - - 11 - - 16 - - 170 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 6.25 - - 10 - - 16 - - 122 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 8 - - 12 - - 19 - - 136 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 1 - - 7 - - 12 - - 21 - - 193 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 5 - - 8 - - 12.5 - - 229 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 5 - - 9 - - 12 - - 72 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 2 - - 38 - - 181 - - 382.5 - - 1747 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 10 - - 35 - - 67 - - 195 - - 4537 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 21 - - 29.75 - - 51 - - 165.5 - - 452 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 2 - - 10 - - 17 - - 26 - - 411 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 2 - - 33 - - 62 - - 96 - - 557 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 4 - - 19 - - 29 - - 42 - - 310 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 228 - - 3752.5 - - 4889 - - 6484.5 - - 20820 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 5 - - 21 - - 32 - - 50 - - 1189 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 23 - - 50 - - 117 - - 139 - - 283 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 2 - - 18 - - 26 - - 38 - - 314 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 1 - - 14 - - 20 - - 29 - - 363 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 8 - - 62 - - 134 - - 280 - - 1759 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 88 - - 169 - - 198.5 - - 332 - - 725 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 5 - - 22 - - 37 - - 69 - - 1171 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 9 - - 89 - - 127 - - 177 - - 582 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 3 - - 21 - - 35 - - 57 - - 665 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 2 - - 17 - - 25 - - 37 - - 181 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 6 - - 10 - - 15.5 - - 64 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 5 - - 30 - - 54.5 - - 91.25 - - 1407 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 8 - - 24 - - 35 - - 56.5 - - 876 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 11 - - 221 - - 365 - - 610 - - 3594 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 53 - - 281.5 - - 618 - - 1332.5 - - 7757 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 10 - - 55 - - 113 - - 239.25 - - 885 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 463 - - 3311.75 - - 4321 - - 5795.25 - - 13516 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 48 - - 3038 - - 4248 - - 5705 - - 16525 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 8 - - 67 - - 102 - - 139.5 - - 437 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 42 - - 99 - - 133 - - 176 - - 566 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 2 - - 34 - - 69 - - 146.5 - - 801 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 4 - - 64 - - 89 - - 120 - - 437 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 9 - - 47 - - 71 - - 117 - - 671 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 5 - - 25 - - 36 - - 52.5 - - 214 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 8 - - 568.25 - - 2300 - - 4001.75 - - 9713 -- hgnc_id: "HGNC:28208" - ensembl_gene_id: ENSG00000187642 - ensembl_gene_version: "9" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 2 - - 19 - - 29 - - 46.5 - - 1445 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 2 - - 21 - - 33 - - 50 - - 454 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 7 - - 27 - - 43 - - 61 - - 393 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 14 - - 68 - - 132 - - 510 - - 922 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 1 - - 29 - - 41.5 - - 62 - - 181 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 9 - - 16 - - 26 - - 4060 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 2 - - 18 - - 26 - - 37 - - 496 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 8 - - 29 - - 44 - - 61 - - 5503 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 7 - - 42 - - 68 - - 122.5 - - 783 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 10 - - 16 - - 23.25 - - 91 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 1 - - 17.75 - - 28 - - 35.25 - - 128 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 12 - - 17 - - 24.75 - - 88 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 5 - - 9 - - 14 - - 70 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 7 - - 11 - - 15 - - 79 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 2 - - 18 - - 26 - - 36 - - 144 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 4 - - 15 - - 23 - - 31 - - 93 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 1 - - 11 - - 18 - - 26 - - 193 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 2 - - 10 - - 14 - - 21.75 - - 116 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 1 - - 9.25 - - 15 - - 26 - - 177 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 1 - - 12 - - 18 - - 28 - - 112 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 1 - - 5 - - 9 - - 18 - - 288 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 6 - - 10 - - 16.5 - - 67 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 2 - - 31 - - 88 - - 159 - - 1205 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 31 - - 63 - - 153 - - 154 - - 1287 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 21 - - 32 - - 56 - - 110.5 - - 209 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 1 - - 14 - - 25 - - 40 - - 161 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 3 - - 25 - - 37 - - 52.75 - - 211 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 1 - - 21 - - 35 - - 58 - - 448 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 273 - - 1181.5 - - 1710 - - 2570 - - 10005 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 3 - - 20 - - 34 - - 52 - - 997 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 46 - - 86 - - 96 - - 107 - - 161 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 301 - - 2185 - - 3356 - - 5178 - - 16812 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 67 - - 4150.25 - - 7961.5 - - 11377.5 - - 28213 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 28 - - 66 - - 97 - - 151 - - 743 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 73 - - 88.75 - - 104 - - 162.25 - - 307 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 3 - - 17 - - 29 - - 47.75 - - 509 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 8 - - 37 - - 51 - - 71 - - 7978 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 244 - - 6665 - - 12045 - - 19768 - - 78830 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 1 - - 18 - - 26 - - 37 - - 2894 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 6.75 - - 14 - - 27 - - 229 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1 - - 13 - - 21.5 - - 35 - - 369 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 15 - - 22 - - 33 - - 289 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 15 - - 114 - - 203 - - 307 - - 3744 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 21 - - 132.25 - - 272 - - 583.5 - - 10140 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 1 - - 17.75 - - 33 - - 59 - - 210 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 191 - - 1017 - - 1362 - - 1819.25 - - 5381 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 32 - - 974 - - 1351 - - 1779 - - 13884 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 13 - - 33 - - 45 - - 61 - - 222 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 15 - - 41 - - 54 - - 72 - - 193 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 5 - - 26 - - 42 - - 67.5 - - 253 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 25 - - 127 - - 219 - - 376 - - 1153 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 2 - - 22 - - 32 - - 51 - - 2497 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 5 - - 32 - - 53.5 - - 86 - - 405 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 4 - - 224.75 - - 742 - - 1286.25 - - 3816 -- hgnc_id: "HGNC:24149" - ensembl_gene_id: ENSG00000188290 - ensembl_gene_version: "10" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 21 - - 358 - - 552 - - 879.5 - - 6319 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 59 - - 431 - - 693 - - 1019 - - 6629 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 15 - - 59 - - 91.5 - - 176.75 - - 2354 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 122 - - 613 - - 880 - - 999 - - 2931 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 7 - - 89 - - 230 - - 405.75 - - 1764 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 12 - - 36 - - 111 - - 7534 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 150 - - 687.5 - - 1044 - - 1391.75 - - 4103 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 255 - - 990.25 - - 1391 - - 2294.75 - - 7701 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 150 - - 1319 - - 2118 - - 3269.5 - - 14171 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 107 - - 439 - - 630 - - 907.25 - - 2030 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 116 - - 533.75 - - 741.5 - - 1021 - - 2994 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 122 - - 714.25 - - 1132 - - 1687 - - 3909 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 27 - - 105.5 - - 168 - - 245 - - 997 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 22 - - 124 - - 187 - - 276 - - 919 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 103 - - 535 - - 748 - - 1016.5 - - 2863 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 91 - - 456 - - 667 - - 884 - - 3825 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 69 - - 278 - - 432 - - 639 - - 3606 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 80 - - 573.5 - - 867 - - 1182 - - 4690 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 58 - - 761.25 - - 1136.5 - - 1674.25 - - 4117 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 65 - - 729 - - 1097 - - 1600 - - 3786 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 32 - - 145.5 - - 207 - - 366 - - 1554 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 62 - - 350.5 - - 562 - - 819.5 - - 2351 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 134 - - 473 - - 734 - - 1172 - - 6609 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 371 - - 599 - - 706 - - 1105 - - 2154 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 418 - - 511.25 - - 704.5 - - 867.5 - - 1089 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 171 - - 503 - - 730 - - 1044 - - 4916 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 88 - - 320 - - 494.5 - - 787.75 - - 3733 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 133 - - 628.5 - - 871 - - 1201.5 - - 5924 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 76 - - 301 - - 445 - - 681.5 - - 2567 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 158 - - 567.5 - - 834 - - 1120.5 - - 6995 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 530 - - 554 - - 1114 - - 1280 - - 2085 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 141 - - 712 - - 1053 - - 1682 - - 6795 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 63 - - 503.5 - - 743.5 - - 1198.25 - - 5800 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 65 - - 288 - - 424 - - 624 - - 3446 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 366 - - 606.75 - - 877.5 - - 1586 - - 3140 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 10 - - 71.25 - - 115.5 - - 197 - - 888 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 61 - - 445.5 - - 697 - - 1116.75 - - 8962 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 10 - - 104 - - 164 - - 261 - - 2545 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 64 - - 546 - - 762 - - 1057.5 - - 4685 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 19 - - 100 - - 209 - - 464 - - 2556 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 55 - - 209.75 - - 291.5 - - 403.25 - - 2865 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 126 - - 510.5 - - 812 - - 1254.5 - - 8197 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 112 - - 790 - - 1113 - - 1606 - - 7765 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 117 - - 351 - - 576 - - 901.75 - - 2603 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 16 - - 31 - - 52.25 - - 652 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 74 - - 387.75 - - 542.5 - - 778.25 - - 2240 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 61 - - 309 - - 449 - - 621 - - 2077 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 51 - - 162.5 - - 266 - - 460 - - 2413 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 77 - - 293 - - 411 - - 676 - - 4130 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 28 - - 141.5 - - 263 - - 457.5 - - 2463 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 28 - - 175 - - 257 - - 363 - - 1701 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 56 - - 342 - - 484 - - 756 - - 2467 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 196 - - 558.25 - - 764.5 - - 1050.75 - - 2976 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 141 - - 470.25 - - 711 - - 1015.25 - - 2375 -- hgnc_id: "HGNC:4053" - ensembl_gene_id: ENSG00000187608 - ensembl_gene_version: "8" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 99 - - 522 - - 803 - - 1254 - - 23276 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 177 - - 551 - - 833 - - 1321 - - 33138 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 64 - - 261 - - 381 - - 570.75 - - 14538 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 297 - - 424 - - 693 - - 1003 - - 2123 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 2991 - - 10696.75 - - 16051 - - 22907 - - 63707 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 56 - - 394 - - 759 - - 1388.5 - - 58518 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 229 - - 648.75 - - 988 - - 1525.25 - - 20685 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 168 - - 609 - - 874.5 - - 1356 - - 6225 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 94 - - 670 - - 946 - - 1392 - - 80633 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 384 - - 1032.75 - - 1388 - - 2135.25 - - 52137 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 261 - - 614.25 - - 775.5 - - 1059 - - 83976 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 103 - - 677.25 - - 930 - - 1256.5 - - 17383 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 31 - - 122 - - 192 - - 287 - - 2462 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 39 - - 112 - - 158 - - 238 - - 10584 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 115 - - 572.5 - - 774 - - 987.5 - - 58334 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 248 - - 655 - - 823 - - 1091 - - 122753 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 227 - - 605 - - 897 - - 1242 - - 119402 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 231 - - 897.5 - - 1246 - - 1778 - - 68178 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 200 - - 577.25 - - 755.5 - - 1060 - - 72628 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 96 - - 791 - - 1029 - - 1444 - - 25504 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 81 - - 462.5 - - 744 - - 1338 - - 12209 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 325 - - 630.5 - - 892 - - 1280 - - 7673 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 148 - - 423 - - 641 - - 1025 - - 43518 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 404 - - 550 - - 799 - - 1125 - - 8638 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 254 - - 423 - - 642.5 - - 1005.5 - - 1220 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 168 - - 700 - - 954 - - 1344 - - 22488 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 103 - - 501.25 - - 770 - - 1075 - - 5232 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 221 - - 520.5 - - 761 - - 1118 - - 6122 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 58 - - 163 - - 254 - - 408.5 - - 34190 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 165 - - 533 - - 757 - - 1054 - - 41206 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 200 - - 355 - - 512 - - 592 - - 1074 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 129 - - 416 - - 598 - - 898 - - 6974 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 68 - - 357.25 - - 526.5 - - 838 - - 14374 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 116 - - 492 - - 685 - - 1302 - - 98609 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 940 - - 1451.5 - - 1661.5 - - 1714.25 - - 1754 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 163 - - 547.75 - - 851 - - 1276.75 - - 62600 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 90 - - 853.5 - - 1271.5 - - 1891.5 - - 13056 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 28 - - 128 - - 188 - - 269.5 - - 5761 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 92 - - 496.5 - - 690 - - 1042.5 - - 81464 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 57 - - 185 - - 292 - - 518 - - 4027 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 33 - - 122.75 - - 166 - - 252.25 - - 1882 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 198 - - 473 - - 659 - - 1166 - - 9379 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 121 - - 483 - - 658 - - 963 - - 2932 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 88 - - 209 - - 295.5 - - 486 - - 3440 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 264 - - 707.25 - - 874 - - 1195 - - 13784 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 36 - - 152 - - 225 - - 337 - - 27432 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 32 - - 163 - - 244 - - 386 - - 7300 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 231 - - 593.5 - - 783 - - 1108 - - 6241 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 249 - - 1005 - - 1315 - - 1837 - - 60584 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 39 - - 252 - - 425 - - 797.5 - - 7035 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 23 - - 185 - - 256 - - 373 - - 1749 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 92 - - 450 - - 657 - - 1020 - - 42442 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 152 - - 432 - - 632.5 - - 960 - - 4522 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 74 - - 324 - - 499.5 - - 773.75 - - 3899 -- hgnc_id: "HGNC:329" - ensembl_gene_id: ENSG00000188157 - ensembl_gene_version: "14" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 782 - - 2334 - - 3522 - - 4921 - - 16065 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 1066 - - 2859 - - 4157 - - 6336 - - 17993 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 214 - - 802 - - 1080 - - 1438.25 - - 11785 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 1209 - - 2671 - - 3687 - - 11631 - - 20473 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 1999 - - 8261.75 - - 12508.5 - - 17503.5 - - 35273 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 12 - - 74 - - 124 - - 217 - - 2412 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 1369 - - 2997.75 - - 3827.5 - - 4802.25 - - 12399 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 1392 - - 3174.25 - - 4156.5 - - 5478.25 - - 39956 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 583 - - 2641.5 - - 3568 - - 4542 - - 48928 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 688 - - 3703.25 - - 5166 - - 6298 - - 14016 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 2277 - - 4768 - - 5754 - - 7688.25 - - 22358 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 732 - - 4033.5 - - 5366 - - 6938.5 - - 14545 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 271 - - 657.5 - - 897 - - 1166 - - 6727 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 271 - - 1046 - - 1319 - - 1724 - - 4203 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 1037 - - 7973 - - 10412 - - 13342.5 - - 38934 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 2591 - - 5814 - - 7453 - - 9388 - - 21973 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 1093 - - 3120 - - 4259 - - 5822 - - 12057 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 288 - - 2613 - - 3731 - - 4775.75 - - 29893 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 703 - - 2853.75 - - 3903.5 - - 5152.25 - - 12875 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 692 - - 3608 - - 5033 - - 6689 - - 12658 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 765 - - 2219.5 - - 3262 - - 4574.5 - - 12130 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 1390 - - 2709 - - 3637 - - 5008.5 - - 10196 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 666 - - 2977 - - 5410 - - 9676 - - 32078 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 1763 - - 2317 - - 4765 - - 6420 - - 10412 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 1246 - - 3672 - - 7168 - - 8859.5 - - 11525 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 1192 - - 2762 - - 3844 - - 5031 - - 13125 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 1254 - - 3301 - - 4336.5 - - 5561.25 - - 29190 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 1281 - - 3035.5 - - 4130 - - 5376 - - 20191 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 1589 - - 4265 - - 5587 - - 7131 - - 18709 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 640 - - 2630 - - 3557 - - 4588 - - 26151 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 2601 - - 3788 - - 4218 - - 5582 - - 20007 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 657 - - 1835 - - 2508 - - 3399 - - 10653 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 333 - - 1618 - - 2169 - - 3073.75 - - 13089 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 5271 - - 12041 - - 16199 - - 21288 - - 73293 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 18669 - - 18730.5 - - 19149.5 - - 22212 - - 30204 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 1018 - - 2477 - - 3215 - - 4193 - - 12668 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 966 - - 6152.5 - - 8500 - - 11261.75 - - 24337 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 131 - - 408 - - 578 - - 822 - - 3549 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 524 - - 2632.5 - - 3556 - - 4775 - - 17270 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 542 - - 1472.5 - - 1944 - - 2665 - - 9229 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1167 - - 4925.5 - - 6294 - - 8858.25 - - 54803 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 1153 - - 2426 - - 3214 - - 4832.5 - - 14933 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 1249 - - 4561 - - 6589 - - 8771 - - 19680 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 1833 - - 6583.75 - - 9707.5 - - 13089.75 - - 28558 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 1727 - - 4381.25 - - 5454 - - 7544 - - 18056 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 1224 - - 4712 - - 6232.5 - - 7977.75 - - 21338 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 1225 - - 4280 - - 5759 - - 7231 - - 20275 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 1292 - - 3025.5 - - 3828 - - 4791.5 - - 9235 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 590 - - 1845 - - 2444 - - 3560 - - 12894 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 1422 - - 3173 - - 4074 - - 5743.5 - - 20082 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 209 - - 4601 - - 5879 - - 7477 - - 30247 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 2774 - - 12196 - - 15134 - - 19215 - - 46411 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 1421 - - 2861 - - 3995 - - 5655.25 - - 16096 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 1412 - - 3287.75 - - 4527.5 - - 5882.5 - - 11993 -- hgnc_id: "HGNC:40020" - ensembl_gene_id: ENSG00000237330 - ensembl_gene_version: "2" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 1 - - 2 - - 4 - - 192 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 1 - - 2 - - 4 - - 111 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 1 - - 3 - - 5 - - 27 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 2 - - 12 - - 55 - - 410 - - 2088 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 4 - - 9 - - 15 - - 57 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 1 - - 2 - - 210 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 2 - - 3 - - 14 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 1 - - 2 - - 3 - - 19 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 1 - - 2 - - 3 - - 126 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 3 - - 5 - - 8.25 - - 38 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 3 - - 5 - - 8 - - 42 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 2 - - 4 - - 7 - - 38 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 2 - - 3 - - 5 - - 30 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 2 - - 3 - - 5 - - 35 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 2 - - 5 - - 8 - - 62 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 2 - - 4 - - 8 - - 39 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 3 - - 5 - - 8 - - 80 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 3 - - 5 - - 9 - - 67 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 2 - - 4 - - 7 - - 51 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 3 - - 5 - - 7 - - 42 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 2 - - 3 - - 5 - - 17 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 2 - - 4 - - 6 - - 27 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 4 - - 26 - - 70 - - 1108 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 1 - - 2 - - 12 - - 41 - - 4466 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 1.25 - - 7 - - 16.25 - - 40 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 1 - - 3 - - 6 - - 426 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 6 - - 83.5 - - 159.75 - - 1730 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 1 - - 3 - - 6 - - 2304 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 44 - - 853.5 - - 1587 - - 2572 - - 9170 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 1 - - 3 - - 6 - - 317 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 1 - - 1 - - 2 - - 10 - - 20 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 2 - - 4 - - 7 - - 84 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 3 - - 5 - - 9 - - 86 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 2 - - 14 - - 27 - - 80 - - 629 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 25 - - 45.25 - - 91.5 - - 147.25 - - 196 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 1 - - 3 - - 6 - - 54 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 1 - - 16 - - 32 - - 59.75 - - 498 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 1.5 - - 3 - - 6 - - 151 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 1 - - 2 - - 4 - - 22 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 1 - - 2 - - 3 - - 12 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 3 - - 6 - - 10.25 - - 214 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 3 - - 5 - - 10 - - 574 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 15 - - 28 - - 57 - - 213 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 18 - - 85.75 - - 131.5 - - 242.5 - - 5022 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 1 - - 2 - - 5 - - 62 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 4 - - 114 - - 179 - - 273 - - 1205 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 5 - - 164 - - 248 - - 375 - - 1413 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 4 - - 8 - - 15 - - 84 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 1 - - 2 - - 4 - - 13 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 18.5 - - 129 - - 302 - - 987 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 1 - - 9 - - 14 - - 20 - - 51 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 2 - - 3 - - 5 - - 32 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 1 - - 2 - - 4 - - 102 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 1 - - 39.75 - - 599 - - 1609.5 - - 12745 -- hgnc_id: "HGNC:26062" - ensembl_gene_id: ENSG00000131591 - ensembl_gene_version: "17" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 146 - - 830 - - 1037 - - 1294 - - 4090 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 226 - - 604 - - 765 - - 972 - - 3801 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 304 - - 568.75 - - 741.5 - - 982.25 - - 3557 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 572 - - 877 - - 1172 - - 1361 - - 2208 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 363 - - 867.25 - - 1066.5 - - 1244.5 - - 1819 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 23 - - 222.5 - - 353 - - 591.5 - - 2336 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 310 - - 595.75 - - 716.5 - - 875.25 - - 2298 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 268 - - 704.25 - - 846 - - 1023.25 - - 4550 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 62 - - 581 - - 739 - - 928 - - 8735 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 207 - - 670.75 - - 893 - - 1168.75 - - 2077 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 431 - - 818.75 - - 1055.5 - - 1317.25 - - 3136 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 154 - - 759.25 - - 1068.5 - - 1339.25 - - 2760 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 440 - - 1019.5 - - 1394 - - 1720.5 - - 2704 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 420 - - 1062 - - 1315 - - 1615 - - 2980 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 432 - - 1157.5 - - 1394 - - 1780.5 - - 4306 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 333 - - 891 - - 1205 - - 1450 - - 2518 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 181 - - 751 - - 1084 - - 1359 - - 2665 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 224 - - 627.5 - - 808.5 - - 986 - - 5114 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 197 - - 827.75 - - 1221.5 - - 1537.75 - - 3106 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 82 - - 695 - - 1063 - - 1393 - - 4125 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 119 - - 533.5 - - 763 - - 1009 - - 1552 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 201 - - 459.5 - - 603 - - 804 - - 1619 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 251 - - 929.5 - - 1263 - - 1803.5 - - 4088 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 870 - - 1047 - - 1176 - - 1231 - - 1705 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 944 - - 1063.75 - - 1214 - - 1517.75 - - 2507 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 366 - - 743 - - 932 - - 1180 - - 2857 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 401 - - 953.25 - - 1260.5 - - 1650 - - 8042 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 314 - - 717.5 - - 897 - - 1139 - - 6432 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 290 - - 1039.5 - - 1356 - - 1749 - - 4165 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 181 - - 682 - - 852 - - 1081.5 - - 5985 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 644 - - 892 - - 1226 - - 1502 - - 2067 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 71 - - 406 - - 510 - - 677 - - 2196 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 67 - - 288 - - 377 - - 501.75 - - 1445 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 425 - - 795 - - 1059 - - 1388 - - 3072 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 1076 - - 1367.75 - - 1563.5 - - 1768 - - 2086 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 222 - - 498.25 - - 613.5 - - 826.5 - - 2479 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 188 - - 861.75 - - 1101 - - 1389.75 - - 2840 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 38 - - 158 - - 210 - - 280.5 - - 1625 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 239 - - 1079 - - 1354 - - 1646.5 - - 5559 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 162 - - 720.5 - - 881 - - 1111.25 - - 1937 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 130 - - 348.5 - - 451.5 - - 605 - - 2036 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 358 - - 812 - - 974 - - 1225.5 - - 4218 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 313 - - 1218 - - 1633 - - 2014 - - 3905 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 410 - - 909.75 - - 1117.5 - - 1439 - - 2654 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 274 - - 532.75 - - 689 - - 876.25 - - 1822 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 367 - - 1220.75 - - 1520.5 - - 1902 - - 4169 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 363 - - 1185 - - 1455 - - 1799 - - 6887 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 296 - - 850.5 - - 1041 - - 1349 - - 2836 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 452 - - 1079 - - 1362 - - 1697 - - 4288 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 274 - - 699.5 - - 896 - - 1200.5 - - 2475 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 208 - - 3469 - - 4571 - - 5913 - - 12672 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 263 - - 1056 - - 1376 - - 1760 - - 4101 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 383 - - 859.75 - - 1154 - - 1493.25 - - 3724 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 518 - - 972.75 - - 1245 - - 1578.75 - - 3784 -- hgnc_id: "HGNC:50551" - ensembl_gene_id: ENSG00000223823 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 1 - - 2 - - 4 - - 24 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 2 - - 4 - - 6 - - 41 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 1 - - 3 - - 5 - - 31 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 3 - - 5 - - 20 - - 70 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 1 - - 2 - - 4 - - 25 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 2 - - 5 - - 14 - - 185 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 1 - - 2 - - 11 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 1 - - 3 - - 170 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 1 - - 3 - - 26 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 2 - - 5 - - 9 - - 69 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 2 - - 4 - - 8 - - 40 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 2 - - 4 - - 8 - - 42 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 1 - - 2 - - 3.5 - - 27 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 1 - - 2 - - 4 - - 34 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 2 - - 4 - - 7 - - 63 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 2 - - 4 - - 7 - - 44 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 3 - - 5 - - 8 - - 91 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 2 - - 4 - - 7 - - 99 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 2 - - 4 - - 7 - - 51 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 2 - - 4 - - 7 - - 58 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 1 - - 3 - - 5 - - 25 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 2 - - 4 - - 6 - - 31 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 3 - - 8 - - 22 - - 124 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 1 - - 3 - - 4 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 1 - - 3 - - 20 - - 61 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 1 - - 2 - - 5 - - 241 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 5.25 - - 38 - - 81.75 - - 491 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 1 - - 2 - - 4 - - 26 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 1 - - 3 - - 6 - - 74 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 1 - - 2 - - 4 - - 28 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 2 - - 7 - - 8 - - 126 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 2 - - 4 - - 7 - - 61 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 2 - - 5 - - 10 - - 74 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 6 - - 25 - - 44 - - 64 - - 470 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 82 - - 82 - - 208 - - 347.75 - - 389 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 2 - - 4 - - 8 - - 80 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 3 - - 5 - - 10 - - 61 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 1 - - 3 - - 5.5 - - 40 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 2 - - 3 - - 57 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 1 - - 3 - - 17 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1 - - 10 - - 16 - - 26 - - 255 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 5 - - 8 - - 14 - - 41 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 7 - - 14 - - 28 - - 141 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 18 - - 31 - - 45.75 - - 108 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 1 - - 2 - - 7 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 1 - - 3 - - 5 - - 28 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 1 - - 3 - - 5 - - 50 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 19 - - 37 - - 63 - - 184 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 14 - - 23 - - 40 - - 161 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 11 - - 46 - - 80 - - 288 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 4 - - 6 - - 10 - - 23 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 1 - - 2 - - 5 - - 81 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 1 - - 3 - - 16 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 1 - - 3 - - 24 -- hgnc_id: "HGNC:31579" - ensembl_gene_id: ENSG00000207730 - ensembl_gene_version: "3" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 1 - - 2 - - 12 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 0 - - 6 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0.75 - - 2 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 16 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 1 - - 5 - - 68 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 2 - - 3 - - 14 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 1 - - 2 - - 10 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 1 - - 3.25 - - 4 - - 4.25 - - 5 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 8 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 1 - - 3 - - 14 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 2 - - 4 - - 6 - - 22 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 1 - - 4 - - 18 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 1 - - 2 - - 9 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 1 - - 2 - - 4 - - 32 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 1 - - 3 - - 13 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 1 - - 3 - - 17 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 2 - - 5 - - 22 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 1 - - 2 - - 6 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 -- hgnc_id: "HGNC:31578" - ensembl_gene_id: ENSG00000207607 - ensembl_gene_version: "3" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 8 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 0 - - 7 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 18 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 1 - - 4 - - 68 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 1 - - 2 - - 4 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0.75 - - 1.5 - - 3 - - 6 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 4 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 1 - - 2 - - 13 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 2 - - 3 - - 5 - - 14 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 1 - - 3 - - 12 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 1 - - 2 - - 20 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 1 - - 2 - - 8 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 1 - - 3 - - 13 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 1 - - 3.5 - - 17 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 1 - - 2 - - 6 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 1 - - 7 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 1 - - 9 -- hgnc_id: "HGNC:13784" - ensembl_gene_id: ENSG00000198976 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 2 - - 16 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 1 - - 11 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 1.75 - - 19 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 21 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 4 - - 12 - - 128 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 1 - - 3 - - 5 - - 20 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 3 - - 3 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 1 - - 2 - - 4 - - 13 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 5 - - 7.25 - - 8.5 - - 9.25 - - 10 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 1 - - 14 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 1 - - 2 - - 4 - - 18 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 4 - - 6 - - 9.5 - - 66 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 1 - - 3 - - 6 - - 28 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 1 - - 2 - - 4 - - 12 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 2 - - 4 - - 32 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 1 - - 2 - - 14 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 3 - - 7 - - 22 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 4 - - 9 - - 64 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 1 - - 6 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 1 - - 2 - - 18 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 2 - - 16 -- hgnc_id: "HGNC:41159" - ensembl_gene_id: ENSG00000205231 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 1 - - 22 - - 38 - - 62.5 - - 361 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 4 - - 56 - - 91 - - 140 - - 723 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 2.25 - - 5 - - 7 - - 43 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 4 - - 6 - - 10 - - 79 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 1 - - 2 - - 4 - - 12 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 1 - - 3 - - 163 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 1 - - 2 - - 4 - - 39 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 2 - - 5 - - 10.25 - - 110 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 1 - - 3 - - 5 - - 42 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 4 - - 7 - - 14.25 - - 116 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 3 - - 5 - - 9 - - 43 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 8 - - 14 - - 34.5 - - 206 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 2 - - 3 - - 5 - - 30 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 1 - - 3 - - 6 - - 34 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 3 - - 6 - - 9 - - 72 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 2 - - 5 - - 8 - - 44 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 6 - - 13 - - 23 - - 234 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 6 - - 13 - - 29.75 - - 372 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 3 - - 7 - - 14.75 - - 207 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 5 - - 7 - - 13 - - 93 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 3 - - 5 - - 8.5 - - 96 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 3 - - 5 - - 9 - - 58 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 30 - - 57 - - 93 - - 538 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 4 - - 5 - - 6 - - 19 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0.25 - - 7 - - 66 - - 198 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 2 - - 5 - - 8 - - 42 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 7 - - 12 - - 19 - - 111 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 2 - - 4 - - 7 - - 48 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 6 - - 10 - - 16 - - 81 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 2 - - 4 - - 6 - - 82 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 4 - - 18 - - 66 - - 87 - - 587 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 2 - - 5 - - 8 - - 86 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 5 - - 8 - - 15 - - 83 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 6 - - 11 - - 17 - - 65 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 25 - - 25.75 - - 27 - - 31 - - 40 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 2 - - 4 - - 6 - - 69 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 12 - - 32 - - 88 - - 855 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 4 - - 8 - - 12 - - 63 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 4 - - 7 - - 12 - - 63 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 1 - - 2 - - 3 - - 28 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 6 - - 10.5 - - 16.25 - - 141 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 1 - - 32 - - 52 - - 80.5 - - 239 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 6 - - 11 - - 16 - - 58 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 6 - - 11 - - 15 - - 42 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 1 - - 2 - - 7 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 6 - - 10 - - 16 - - 68 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 5 - - 9 - - 13 - - 46 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 2 - - 9 - - 13 - - 19 - - 92 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 4 - - 6 - - 10 - - 42 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 7 - - 11 - - 18.5 - - 84 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 10 - - 351 - - 539 - - 701 - - 1478 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 5 - - 9 - - 14 - - 47 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 2 - - 4 - - 9 - - 33 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 4 - - 7 - - 11 - - 30 -- hgnc_id: "HGNC:26693" - ensembl_gene_id: ENSG00000162571 - ensembl_gene_version: "13" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 1 - - 69 - - 106 - - 155 - - 533 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 28 - - 83 - - 127 - - 187 - - 973 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 4 - - 7 - - 11 - - 57 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 2 - - 11 - - 18 - - 41 - - 91 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 2 - - 4 - - 6 - - 16 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 1 - - 3 - - 6 - - 1593 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 2 - - 4 - - 7 - - 60 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 5 - - 8.5 - - 18 - - 106 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 3 - - 7 - - 12 - - 120 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 7.75 - - 14 - - 31 - - 387 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 5 - - 9 - - 15 - - 74 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 2 - - 13 - - 23 - - 58.25 - - 568 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 5 - - 10 - - 17 - - 104 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 5 - - 9 - - 14 - - 67 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 6 - - 10 - - 15 - - 119 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 5 - - 8 - - 13 - - 81 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 2 - - 13 - - 22 - - 53 - - 680 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 3 - - 16 - - 30 - - 71 - - 1395 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 6.25 - - 10 - - 19 - - 780 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 8 - - 13 - - 22 - - 94 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 1 - - 5 - - 10 - - 15.5 - - 307 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 6 - - 10 - - 17 - - 272 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 15 - - 76 - - 120 - - 183 - - 1041 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 6 - - 7 - - 13 - - 23 - - 51 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 4 - - 6.25 - - 21 - - 376 - - 946 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 6 - - 10 - - 16 - - 114 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 14 - - 30 - - 49 - - 316 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 6 - - 10 - - 15 - - 52 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 3 - - 22 - - 31 - - 45 - - 154 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 6 - - 10 - - 16 - - 581 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 7 - - 67 - - 313 - - 809 - - 4490 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 7 - - 11 - - 16 - - 139 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 1 - - 14 - - 22 - - 32 - - 163 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 2 - - 23 - - 37 - - 61 - - 191 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 34 - - 46.75 - - 65.5 - - 88.25 - - 113 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 4 - - 7 - - 11 - - 105 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 4 - - 41 - - 114 - - 397 - - 5579 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 12 - - 18 - - 27 - - 355 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 1 - - 11 - - 18 - - 26 - - 98 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 2 - - 5 - - 9 - - 81 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1 - - 14 - - 20 - - 31 - - 98 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 11 - - 164 - - 251 - - 386.5 - - 1513 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 27 - - 45 - - 66 - - 400 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 2 - - 24.25 - - 34.5 - - 54.75 - - 123 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 1 - - 2 - - 4 - - 13 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 5 - - 20 - - 30 - - 45 - - 175 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 1 - - 20 - - 29 - - 40 - - 276 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 6 - - 19.5 - - 30 - - 41.5 - - 124 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 6 - - 10 - - 14 - - 38 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 1 - - 16 - - 27 - - 46.5 - - 250 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 117 - - 4152 - - 5729 - - 7336 - - 19187 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 1 - - 21 - - 31 - - 45 - - 325 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 7 - - 11 - - 22 - - 138 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 1 - - 11 - - 19 - - 30 - - 90 -- hgnc_id: "HGNC:11914" - ensembl_gene_id: ENSG00000186891 - ensembl_gene_version: "13" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 7 - - 44 - - 67 - - 105 - - 844 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 12 - - 52 - - 75 - - 110 - - 791 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 6 - - 12 - - 24 - - 576 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 4 - - 22 - - 39 - - 79 - - 511 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 46 - - 294 - - 607.5 - - 1144.25 - - 4812 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 7 - - 97 - - 257 - - 579.5 - - 6656 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 1 - - 13 - - 22 - - 40 - - 418 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 1 - - 18.75 - - 32 - - 52.25 - - 782 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 4 - - 8 - - 15 - - 1664 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 4 - - 25 - - 45.5 - - 62.5 - - 367 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 17 - - 63.75 - - 88 - - 129 - - 478 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 9 - - 14 - - 19 - - 102 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 13 - - 104 - - 213 - - 394.5 - - 1407 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 5 - - 79 - - 143 - - 265 - - 1162 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 22 - - 76.5 - - 109 - - 150 - - 637 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 17 - - 77 - - 117 - - 163 - - 578 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 15 - - 24 - - 40 - - 367 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 3 - - 14 - - 20 - - 33 - - 284 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 7 - - 11 - - 17 - - 112 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 11 - - 17 - - 25 - - 148 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 12 - - 19 - - 32 - - 163 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 1 - - 11 - - 16 - - 24 - - 357 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 17 - - 65 - - 99 - - 157.5 - - 1101 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 8 - - 21 - - 47 - - 105 - - 244 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 16 - - 32 - - 69 - - 432.5 - - 2425 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 10 - - 16 - - 30 - - 2518 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 2 - - 66.25 - - 214 - - 418 - - 1727 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 9 - - 15 - - 23 - - 124 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 20 - - 102 - - 172 - - 335.5 - - 2281 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 9 - - 15 - - 24 - - 158 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 13 - - 35 - - 57 - - 89 - - 242 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 9 - - 15 - - 24 - - 220 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 8 - - 12 - - 20 - - 463 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 2 - - 18 - - 35 - - 59 - - 410 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 29 - - 41 - - 45 - - 161.75 - - 512 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 1 - - 13 - - 22 - - 35.75 - - 158 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 4 - - 98 - - 172 - - 283.5 - - 1593 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 6 - - 10 - - 16 - - 93 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 14 - - 22 - - 34 - - 147 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 5 - - 10 - - 18 - - 96 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 5 - - 8 - - 12 - - 116 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 20 - - 106.5 - - 181 - - 321 - - 1924 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 5 - - 63 - - 115 - - 185 - - 607 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 28 - - 134.5 - - 216 - - 333.5 - - 1174 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 2 - - 4 - - 8 - - 36 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 23 - - 758.75 - - 1100.5 - - 1567 - - 4825 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 24 - - 582 - - 929 - - 1283 - - 3450 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 6 - - 184 - - 288 - - 472 - - 1949 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 114 - - 267 - - 396 - - 520 - - 1218 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 2 - - 26 - - 59 - - 113 - - 576 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 1 - - 54 - - 70 - - 88 - - 443 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 21 - - 36 - - 67 - - 1404 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 11 - - 17 - - 25.75 - - 174 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 6 - - 61 - - 109 - - 199.5 - - 687 -- hgnc_id: "HGNC:11918" - ensembl_gene_id: ENSG00000186827 - ensembl_gene_version: "10" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 36 - - 172.5 - - 268 - - 412.5 - - 2446 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 50 - - 305 - - 454 - - 712 - - 5985 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 1 - - 17 - - 26 - - 42 - - 168 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 35 - - 57 - - 96 - - 142 - - 297 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 34 - - 186.25 - - 335.5 - - 600.75 - - 2735 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 3 - - 76 - - 185 - - 442 - - 3089 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 9 - - 38 - - 58 - - 98.25 - - 643 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 8 - - 47.75 - - 74.5 - - 130.25 - - 823 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 1 - - 21 - - 43 - - 76 - - 2268 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 2 - - 16 - - 27 - - 40 - - 323 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 9 - - 19.75 - - 29 - - 41 - - 127 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 14 - - 19 - - 26 - - 168 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 5 - - 20.5 - - 33 - - 44.5 - - 92 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 4 - - 24 - - 32 - - 43 - - 127 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 11 - - 41 - - 56 - - 77 - - 235 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 8 - - 32 - - 48 - - 68 - - 331 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 6 - - 27 - - 43 - - 68 - - 506 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 2 - - 16 - - 24 - - 34 - - 154 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 2 - - 13.25 - - 20 - - 29 - - 159 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 1 - - 13 - - 20 - - 29 - - 286 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 14 - - 22 - - 33.5 - - 166 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 1 - - 13 - - 22 - - 31.5 - - 117 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 32 - - 171 - - 273 - - 462.5 - - 3615 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 13 - - 45 - - 84 - - 101 - - 134 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 32 - - 63 - - 87.5 - - 140.5 - - 505 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 10 - - 39 - - 57 - - 92 - - 693 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 14 - - 83 - - 161 - - 266.75 - - 1318 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 9 - - 40.5 - - 60 - - 87.5 - - 579 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 25 - - 41 - - 69 - - 816 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 5 - - 38 - - 54 - - 81 - - 514 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 36 - - 45 - - 76 - - 119 - - 131 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 8 - - 53 - - 105 - - 184 - - 2801 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 8 - - 93 - - 163.5 - - 315.25 - - 3605 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 19 - - 61 - - 94 - - 157 - - 534 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 99 - - 166.5 - - 201 - - 305 - - 581 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 16 - - 24 - - 35 - - 187 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 18 - - 203.25 - - 348 - - 567.75 - - 6460 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 1 - - 41 - - 65 - - 99 - - 397 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 6 - - 40 - - 55 - - 80 - - 331 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 3 - - 29 - - 46 - - 69 - - 235 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 3 - - 19 - - 31 - - 51 - - 633 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 16 - - 58 - - 88 - - 135 - - 683 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 27 - - 110 - - 175 - - 283 - - 1240 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 14 - - 54 - - 82.5 - - 143.75 - - 496 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 2 - - 3 - - 6 - - 19 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 4 - - 33 - - 50 - - 81 - - 374 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 4 - - 34 - - 53 - - 83 - - 341 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 20 - - 153 - - 243 - - 431 - - 2911 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 196 - - 526 - - 692 - - 1024 - - 2207 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 12 - - 54.5 - - 83 - - 137 - - 556 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 2 - - 20 - - 27 - - 40 - - 452 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 33 - - 156 - - 240 - - 360 - - 2052 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 16 - - 49 - - 68.5 - - 95.75 - - 360 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 6 - - 35.75 - - 55 - - 78 - - 235 -- hgnc_id: "HGNC:24188" - ensembl_gene_id: ENSG00000078808 - ensembl_gene_version: "16" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 2206 - - 6408.5 - - 7740 - - 9254 - - 29504 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 3203 - - 6302 - - 7600 - - 9117 - - 31488 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 2599 - - 6660.5 - - 8225.5 - - 10031.75 - - 15326 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 4594 - - 6227 - - 7422 - - 9163 - - 15598 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 1760 - - 5064.25 - - 6436.5 - - 7667 - - 11255 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 404 - - 2728.5 - - 3960 - - 5335.5 - - 13232 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 4626 - - 9378 - - 11140.5 - - 13464.75 - - 34749 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 3933 - - 7410.75 - - 9210.5 - - 11007.75 - - 65609 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 1063 - - 6559.5 - - 8086 - - 9724 - - 65081 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 1026 - - 2419.75 - - 3002.5 - - 3841.5 - - 7247 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 1379 - - 3008 - - 3767 - - 4848.5 - - 12146 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 547 - - 2996 - - 3914 - - 4800.75 - - 9655 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 2886 - - 7501 - - 10205 - - 12607 - - 19263 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 3201 - - 7888 - - 9615 - - 11834 - - 20312 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 1730 - - 3980 - - 4921 - - 5944 - - 13598 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 1215 - - 3459 - - 4469 - - 5492 - - 13864 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 997 - - 2592 - - 3498 - - 4492 - - 7721 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 851 - - 3000.25 - - 3790 - - 5062 - - 25214 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 915 - - 3185.75 - - 4075 - - 5036.25 - - 8719 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 440 - - 2877 - - 3589 - - 4625 - - 19122 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 768 - - 2961 - - 3538 - - 4466 - - 7384 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 1162 - - 2577.5 - - 3418 - - 4288 - - 8063 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 2430 - - 6336 - - 7669 - - 9095 - - 18207 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 3419 - - 5322 - - 8090 - - 8645 - - 12240 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 5601 - - 6657.75 - - 7970.5 - - 10488 - - 11300 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 2675 - - 5876 - - 6964 - - 8239 - - 26256 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 3644 - - 6858.5 - - 8492 - - 10573.75 - - 79337 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 2743 - - 5844 - - 6849 - - 8413.5 - - 30377 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 2490 - - 4249 - - 5260 - - 6481 - - 13203 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 1738 - - 5546.5 - - 6632 - - 7884 - - 39205 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 5758 - - 6309 - - 6345 - - 7890 - - 12047 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 1883 - - 7256 - - 8733 - - 10788 - - 28710 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 514 - - 4377 - - 5776.5 - - 7762 - - 17262 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 2935 - - 5435 - - 6965 - - 9070 - - 20767 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 5856 - - 7518 - - 8154 - - 8657.5 - - 9922 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 3056 - - 6046 - - 7377 - - 9539.75 - - 21879 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 1122 - - 6316 - - 7757 - - 9768 - - 23844 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 999 - - 3153 - - 4030 - - 5180 - - 11487 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 1521 - - 5595.5 - - 6785 - - 8174 - - 23613 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 3255 - - 6537.75 - - 7724.5 - - 9202.75 - - 15255 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1847 - - 4173.25 - - 5095 - - 6413.5 - - 18788 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 3040 - - 6739 - - 8059 - - 9962.5 - - 23320 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 2304 - - 6420 - - 7623 - - 9422 - - 20872 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 3342 - - 5791.75 - - 7370.5 - - 9194.25 - - 21803 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 6420 - - 11488.5 - - 14259 - - 16940 - - 33881 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 1418 - - 5163.75 - - 6131 - - 7473.5 - - 15782 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 2076 - - 5408 - - 6489 - - 7704 - - 20841 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 3227 - - 6863.5 - - 8612 - - 10483.5 - - 23179 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 4497 - - 6434 - - 7732 - - 9329 - - 17553 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 2557 - - 5479.5 - - 6588 - - 8120 - - 17486 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 850 - - 7454 - - 8969 - - 10893 - - 27450 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 1685 - - 6840 - - 8260 - - 10201 - - 25241 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 4904 - - 6601 - - 7773 - - 9221.25 - - 18144 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 2636 - - 5228.5 - - 6311.5 - - 8165 - - 12037 -- hgnc_id: "HGNC:17978" - ensembl_gene_id: ENSG00000176022 - ensembl_gene_version: "4" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 257 - - 812.5 - - 992 - - 1208.5 - - 3538 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 279 - - 813 - - 1043 - - 1325 - - 5243 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 255 - - 853.25 - - 1039 - - 1291.75 - - 3926 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 466 - - 697 - - 920 - - 1132 - - 1988 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 296 - - 738.75 - - 948 - - 1237 - - 2266 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 22 - - 161.5 - - 331 - - 582.5 - - 2274 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 205 - - 551.25 - - 831.5 - - 1092.25 - - 2706 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 128 - - 746.25 - - 970 - - 1251.5 - - 8011 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 106 - - 567 - - 737 - - 914.5 - - 11407 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 306 - - 763.5 - - 1079.5 - - 1400 - - 3143 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 350 - - 940 - - 1351.5 - - 1706.5 - - 4388 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 142 - - 668.5 - - 952 - - 1304 - - 2161 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 80 - - 638.5 - - 910 - - 1210 - - 2190 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 196 - - 591 - - 799 - - 1011 - - 2088 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 416 - - 985.5 - - 1375 - - 1724.5 - - 5856 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 247 - - 1084 - - 1460 - - 1921 - - 6183 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 258 - - 738 - - 1185 - - 1623 - - 3486 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 125 - - 880.25 - - 1238.5 - - 1733.25 - - 8479 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 194 - - 770 - - 1090.5 - - 1396.75 - - 3270 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 141 - - 624 - - 958 - - 1222 - - 3254 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 135 - - 581 - - 831 - - 1032.5 - - 2394 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 313 - - 531 - - 809 - - 1015.5 - - 1797 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 225 - - 864.5 - - 1119 - - 1387.5 - - 3121 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 359 - - 527 - - 879 - - 1388 - - 1867 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 459 - - 863.5 - - 1090.5 - - 1263.75 - - 1541 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 265 - - 638 - - 785 - - 1002 - - 2098 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 164 - - 603 - - 774.5 - - 949.25 - - 6335 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 169 - - 611 - - 762 - - 992 - - 3477 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 47 - - 598 - - 782 - - 1013.5 - - 2123 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 164 - - 607 - - 759 - - 982.5 - - 4066 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 485 - - 876 - - 1074 - - 1195 - - 1525 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 132 - - 562 - - 774 - - 956 - - 2248 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 41 - - 519.25 - - 686 - - 936.25 - - 2512 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 254 - - 599 - - 811 - - 1156 - - 2584 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 1231 - - 1245.25 - - 1279.5 - - 1482.75 - - 2004 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 311 - - 632.25 - - 833 - - 1078.25 - - 4927 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 106 - - 446.25 - - 841 - - 1347 - - 3983 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 79 - - 434 - - 623 - - 901 - - 3204 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 195 - - 807.5 - - 1010 - - 1261.5 - - 5031 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 131 - - 602.25 - - 851 - - 1084 - - 2410 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 253 - - 642 - - 814.5 - - 1033 - - 3742 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 579 - - 985.5 - - 1240 - - 1565.5 - - 3766 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 261 - - 827 - - 1030 - - 1314 - - 3391 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 326 - - 603.75 - - 801.5 - - 997.75 - - 2134 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 896 - - 1636.25 - - 2012 - - 2434.5 - - 9027 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 225 - - 800 - - 1048 - - 1334 - - 2951 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 203 - - 798 - - 1022 - - 1277 - - 3628 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 208 - - 638 - - 829 - - 1112.5 - - 2158 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 367 - - 987 - - 1263 - - 1603 - - 4623 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 63 - - 587 - - 757 - - 951 - - 2664 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 130 - - 739 - - 902 - - 1128 - - 4014 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 198 - - 797 - - 1027 - - 1361 - - 4312 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 235 - - 864.5 - - 1179 - - 1586.25 - - 3968 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 92 - - 590.75 - - 778 - - 965.5 - - 2527 -- hgnc_id: "HGNC:32308" - ensembl_gene_id: ENSG00000184163 - ensembl_gene_version: "3" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 1 - - 32 - - 47 - - 68 - - 436 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 20 - - 68 - - 97 - - 139 - - 1051 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 2 - - 15 - - 21 - - 29.75 - - 88 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 21 - - 26 - - 48 - - 65 - - 184 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 7 - - 29 - - 46 - - 71.5 - - 254 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 16 - - 25 - - 38 - - 195 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 6 - - 25.75 - - 36 - - 54 - - 306 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 8 - - 29 - - 40.5 - - 54.25 - - 192 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 3 - - 30 - - 43 - - 66 - - 518 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 9 - - 20.75 - - 30 - - 41.5 - - 446 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 9 - - 26 - - 35 - - 46 - - 106 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 14 - - 20.5 - - 28 - - 70 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 17 - - 40 - - 61 - - 92 - - 399 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 15 - - 42 - - 57 - - 77 - - 1296 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 7 - - 27.5 - - 37 - - 52 - - 216 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 8 - - 23 - - 35 - - 44 - - 126 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 6 - - 18 - - 25 - - 37 - - 97 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 3 - - 35.25 - - 58 - - 82.75 - - 264 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 3 - - 18 - - 25.5 - - 37 - - 163 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 2 - - 15 - - 23 - - 31 - - 162 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 4 - - 20 - - 29 - - 42 - - 235 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 3 - - 19 - - 28 - - 36 - - 119 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 2 - - 50 - - 69 - - 99 - - 424 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 20 - - 37 - - 46 - - 52 - - 96 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 25 - - 33 - - 42 - - 53.25 - - 104 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 11 - - 42 - - 60 - - 89 - - 923 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 12 - - 66.25 - - 184 - - 469.75 - - 3967 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 7 - - 33 - - 47 - - 69 - - 357 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 12 - - 45 - - 68 - - 106 - - 643 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 7 - - 30 - - 43 - - 59 - - 314 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 25 - - 41 - - 58 - - 70 - - 125 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 1 - - 13 - - 20 - - 31 - - 173 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 5 - - 22 - - 35 - - 52 - - 209 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 39 - - 110 - - 175 - - 282 - - 967 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 58 - - 73 - - 78 - - 173.25 - - 459 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 7 - - 28 - - 41 - - 62 - - 160 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 2 - - 35 - - 54 - - 87.75 - - 479 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 1 - - 13.5 - - 20 - - 32 - - 475 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 4 - - 23.5 - - 34 - - 53.5 - - 401 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 1 - - 25 - - 36.5 - - 49.25 - - 430 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1 - - 10 - - 16 - - 23 - - 250 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 7 - - 29 - - 41 - - 58 - - 268 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 8 - - 33 - - 45 - - 63 - - 532 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 1 - - 18 - - 29.5 - - 44.75 - - 289 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 7 - - 30 - - 43 - - 56 - - 165 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 15 - - 125 - - 231 - - 507.25 - - 3568 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 21 - - 105 - - 172 - - 269 - - 1378 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 12 - - 69 - - 247 - - 650.5 - - 2281 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 3 - - 29 - - 41 - - 54 - - 232 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 6 - - 26 - - 41 - - 59.5 - - 221 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 10 - - 146 - - 187 - - 237 - - 898 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 5 - - 39 - - 53 - - 72 - - 376 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 8 - - 28 - - 40 - - 56 - - 133 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 6 - - 30 - - 49 - - 68 - - 271 -- hgnc_id: "HGNC:19268" - ensembl_gene_id: ENSG00000160087 - ensembl_gene_version: "20" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 588 - - 1902 - - 2291 - - 2746 - - 9914 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 883 - - 1905 - - 2286 - - 2813 - - 7367 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 1287 - - 2239.5 - - 2710 - - 3373.75 - - 8361 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 1488 - - 1864 - - 2195 - - 3122 - - 4566 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 958 - - 2805.25 - - 3336 - - 4003.75 - - 6742 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 125 - - 909.5 - - 1561 - - 2601 - - 11999 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 872 - - 1736.25 - - 2138.5 - - 2635 - - 6374 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 1118 - - 1781.5 - - 2213.5 - - 2759.75 - - 13624 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 237 - - 1662 - - 1982 - - 2425 - - 14625 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 617 - - 1370.25 - - 1790.5 - - 2173 - - 4356 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 910 - - 1668 - - 2017 - - 2587.5 - - 5738 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 314 - - 1429.5 - - 1816.5 - - 2189.5 - - 4032 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 1208 - - 2670 - - 3298 - - 3926 - - 6017 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 1356 - - 2404 - - 2830 - - 3507 - - 6553 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 663 - - 1841.5 - - 2221 - - 2678 - - 6382 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 557 - - 1800 - - 2280 - - 2743 - - 7496 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 478 - - 1391 - - 1910 - - 2355 - - 4233 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 385 - - 1580.25 - - 2082 - - 2603.75 - - 11977 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 510 - - 1475.25 - - 1906.5 - - 2292.25 - - 5047 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 202 - - 1350 - - 1671 - - 2086 - - 6938 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 283 - - 1200 - - 1473 - - 1764 - - 3747 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 709 - - 1254 - - 1639 - - 2086 - - 3142 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 935 - - 1941.5 - - 2394 - - 2881.5 - - 6684 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 1510 - - 2219 - - 2382 - - 2528 - - 3612 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 1905 - - 2021.75 - - 2425 - - 3185.75 - - 4122 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 1200 - - 2236 - - 2682 - - 3178 - - 7099 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 1021 - - 2193.5 - - 2635 - - 3277 - - 21867 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 1157 - - 2228 - - 2613 - - 3076 - - 13065 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 1163 - - 2313.5 - - 2859 - - 3583.5 - - 8548 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 658 - - 2159.5 - - 2536 - - 3057 - - 12427 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 1950 - - 2445 - - 2558 - - 2934 - - 3524 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 413 - - 1400 - - 1736 - - 2053 - - 5384 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 161 - - 1250 - - 1583.5 - - 2046.5 - - 4686 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 837 - - 2017 - - 2432 - - 2915 - - 5813 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 2025 - - 3107.25 - - 3541.5 - - 3647.75 - - 3746 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 920 - - 1479.5 - - 1873.5 - - 2280.5 - - 5772 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 385 - - 1909.25 - - 2423 - - 3026.75 - - 10096 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 482 - - 1523.5 - - 1985 - - 2571.5 - - 5655 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 521 - - 1818.5 - - 2143 - - 2553.5 - - 7010 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 1044 - - 1809.5 - - 2213 - - 2748 - - 5124 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 607 - - 1264.5 - - 1601.5 - - 2025.5 - - 5609 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 1470 - - 2533.5 - - 3083 - - 3828 - - 11427 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 805 - - 2244 - - 2689 - - 3265 - - 8072 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 1117 - - 1871 - - 2371.5 - - 2916 - - 4981 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 1423 - - 2627.75 - - 3446.5 - - 4423.5 - - 13492 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 543 - - 2188.75 - - 2630 - - 3199.5 - - 7634 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 832 - - 2319 - - 2746 - - 3234 - - 8044 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 1446 - - 2351 - - 2732 - - 3201 - - 6597 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 1760 - - 2855 - - 3457 - - 4016 - - 10023 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 689 - - 1827 - - 2262 - - 2932.5 - - 7159 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 1265 - - 7306 - - 9050 - - 11402 - - 25879 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 443 - - 2151 - - 2517 - - 3155 - - 8085 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 1530 - - 2301.25 - - 2683.5 - - 3410.5 - - 7948 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 1019 - - 1816.75 - - 2135.5 - - 2613 - - 4953 -- hgnc_id: "HGNC:52575" - ensembl_gene_id: ENSG00000230415 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 5 - - 27 - - 39 - - 56 - - 286 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 2 - - 28 - - 44 - - 67 - - 197 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 8 - - 47.25 - - 69 - - 95 - - 217 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 15 - - 41 - - 49 - - 62 - - 119 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 2 - - 13 - - 21 - - 34 - - 70 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 4 - - 8 - - 14.5 - - 67 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 6 - - 24 - - 33 - - 45 - - 124 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 4 - - 23 - - 37 - - 54 - - 188 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 2 - - 17 - - 26 - - 36.5 - - 313 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 5 - - 31 - - 46.5 - - 69.25 - - 217 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 3 - - 40 - - 60 - - 90.25 - - 265 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 9 - - 39 - - 67 - - 98.75 - - 317 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 36 - - 161.5 - - 229 - - 317 - - 649 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 48 - - 189 - - 265 - - 346 - - 638 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 14 - - 75.5 - - 109 - - 149 - - 412 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 14 - - 49 - - 70 - - 109 - - 231 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 6 - - 34 - - 54 - - 74 - - 200 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 5 - - 37.25 - - 53.5 - - 76 - - 846 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 5 - - 46.25 - - 79 - - 121.75 - - 274 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 2 - - 32 - - 53 - - 76 - - 176 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 6 - - 30 - - 45 - - 67.5 - - 170 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 1 - - 26.5 - - 42 - - 58.5 - - 150 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 1 - - 36 - - 55 - - 82.5 - - 323 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 26 - - 38 - - 63 - - 102 - - 170 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 35 - - 69.5 - - 92.5 - - 133.5 - - 261 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 8 - - 58 - - 82 - - 114 - - 267 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 4 - - 27.25 - - 47 - - 69.75 - - 480 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 6 - - 45 - - 64 - - 91 - - 313 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 2 - - 16 - - 25 - - 35 - - 128 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 7 - - 45 - - 65 - - 93.5 - - 362 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 42 - - 93 - - 118 - - 148 - - 218 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 2 - - 23 - - 33 - - 47 - - 188 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 2 - - 18 - - 28 - - 44 - - 150 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 6 - - 31 - - 43 - - 59 - - 123 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 18 - - 34.5 - - 47.5 - - 68 - - 107 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 23.25 - - 38 - - 56 - - 152 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 3 - - 22 - - 36 - - 51 - - 126 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 11 - - 19 - - 28.5 - - 111 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 4 - - 64 - - 88 - - 121 - - 274 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 10 - - 83.75 - - 122 - - 171.25 - - 378 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 5 - - 18 - - 25 - - 38 - - 128 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 35 - - 126 - - 172 - - 226.5 - - 586 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 4 - - 51 - - 73 - - 104 - - 255 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 6 - - 31.5 - - 49 - - 74 - - 170 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 3 - - 15 - - 23 - - 34 - - 85 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 1 - - 19 - - 30 - - 44 - - 144 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 16 - - 25 - - 37 - - 128 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 9 - - 47 - - 64 - - 87.5 - - 219 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 17 - - 51 - - 66 - - 91 - - 175 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 5 - - 32 - - 45 - - 63 - - 271 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 34 - - 247 - - 314 - - 414 - - 1295 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 9 - - 49 - - 69 - - 93 - - 238 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 22 - - 70 - - 98 - - 135 - - 385 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 10 - - 35 - - 50.5 - - 76.25 - - 185 -- hgnc_id: "HGNC:10601" - ensembl_gene_id: ENSG00000162572 - ensembl_gene_version: "20" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 123 - - 406.5 - - 587 - - 830.5 - - 5303 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 98 - - 429 - - 682 - - 1044 - - 3177 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 225 - - 627.25 - - 858.5 - - 1129.5 - - 3364 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 193 - - 506 - - 666 - - 795 - - 1412 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 72 - - 163 - - 219.5 - - 293 - - 658 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 9 - - 78.5 - - 147 - - 276 - - 1455 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 116 - - 258.75 - - 349.5 - - 472 - - 1354 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 75 - - 293.5 - - 455.5 - - 615.75 - - 1653 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 32 - - 169 - - 239 - - 331.5 - - 3973 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 211 - - 855.5 - - 1111.5 - - 1518 - - 3283 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 436 - - 1108 - - 1402 - - 1897 - - 4857 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 210 - - 1040.25 - - 1491 - - 1955.5 - - 3746 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 957 - - 3301 - - 4413 - - 5409 - - 11270 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 922 - - 3460 - - 4330 - - 5367 - - 8860 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 531 - - 1859.5 - - 2334 - - 2813 - - 6332 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 289 - - 1278 - - 1731 - - 2157 - - 4449 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 195 - - 897 - - 1260 - - 1627 - - 3052 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 213 - - 962 - - 1242.5 - - 1605.25 - - 10559 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 302 - - 1203.25 - - 1809 - - 2227.75 - - 4260 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 176 - - 816 - - 1377 - - 1775 - - 5766 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 256 - - 765.5 - - 1138 - - 1424 - - 3097 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 253 - - 656 - - 960 - - 1263 - - 2479 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 96 - - 555 - - 756 - - 1115 - - 4162 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 651 - - 1110 - - 1176 - - 1528 - - 2594 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 541 - - 1146 - - 1267.5 - - 2233.75 - - 3717 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 194 - - 787 - - 1180 - - 1570 - - 3737 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 129 - - 386.25 - - 624 - - 1008 - - 5023 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 136 - - 532.5 - - 827 - - 1233.5 - - 4654 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 99 - - 297.5 - - 405 - - 568 - - 1652 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 165 - - 518 - - 775 - - 1224.5 - - 5672 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 675 - - 1342 - - 1910 - - 2327 - - 3883 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 77 - - 314 - - 475 - - 671 - - 2554 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 83 - - 256.5 - - 406.5 - - 609 - - 1779 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 134 - - 561 - - 797 - - 1155 - - 3218 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 541 - - 678.25 - - 884 - - 1218.75 - - 1743 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 142 - - 480.5 - - 768.5 - - 1223.75 - - 4043 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 64 - - 329 - - 477 - - 689.75 - - 1757 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 34 - - 140.5 - - 229 - - 344.5 - - 1700 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 133 - - 1043.5 - - 1459 - - 1884.5 - - 5775 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 452 - - 1270 - - 1760 - - 2393.25 - - 4770 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 104 - - 241.5 - - 323 - - 437.25 - - 2088 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 923 - - 2137 - - 2688 - - 3456.5 - - 12828 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 131 - - 854 - - 1254 - - 1775 - - 5195 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 147 - - 461.75 - - 640.5 - - 851.25 - - 1954 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 28 - - 126.5 - - 193 - - 305.25 - - 752 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 115 - - 377.75 - - 527 - - 746.5 - - 2421 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 107 - - 329 - - 454 - - 597 - - 3009 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 362 - - 730 - - 945 - - 1251.5 - - 3889 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 268 - - 780 - - 994 - - 1271 - - 2680 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 93 - - 448.5 - - 600 - - 799.5 - - 3645 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 422 - - 4818 - - 6029 - - 7632 - - 20593 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 165 - - 598 - - 865 - - 1200 - - 3739 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 271 - - 901.5 - - 1272 - - 1704.75 - - 4131 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 193 - - 574 - - 859.5 - - 1228.25 - - 6312 -- hgnc_id: "HGNC:16754" - ensembl_gene_id: ENSG00000131584 - ensembl_gene_version: "18" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 845 - - 2970 - - 3884 - - 5035.5 - - 18539 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 1176 - - 3155 - - 4362 - - 6084 - - 17125 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 1920 - - 3682 - - 4761 - - 6171.75 - - 14771 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 3671 - - 5208 - - 7395 - - 9644 - - 14536 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 1105 - - 2113 - - 2673.5 - - 3288.75 - - 5724 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 127 - - 1315.5 - - 1954 - - 2902 - - 8106 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 922 - - 2443 - - 2988 - - 3632.5 - - 9795 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 1137 - - 2915.75 - - 3627 - - 4759.75 - - 17354 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 340 - - 2479.5 - - 3131 - - 3956 - - 30323 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 2006 - - 6723.5 - - 8898.5 - - 11909.5 - - 23670 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 2845 - - 8644 - - 11098 - - 14083.5 - - 38242 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 1582 - - 9340.25 - - 14026.5 - - 19579.5 - - 45708 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 8533 - - 37204 - - 50925 - - 64115 - - 102369 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 14918 - - 37719 - - 50566 - - 62064 - - 103505 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 4290 - - 13518 - - 17113 - - 20914.5 - - 62251 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 2874 - - 9773 - - 12841 - - 16185 - - 32623 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 3024 - - 8281 - - 12343 - - 15899 - - 36164 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 1131 - - 5354.75 - - 7358.5 - - 8903.25 - - 44594 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 1478 - - 10362.75 - - 15271.5 - - 20418.25 - - 44426 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 1429 - - 7963 - - 13704 - - 19066 - - 45540 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 1337 - - 4515 - - 5943 - - 8107.5 - - 16894 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 1653 - - 3432 - - 5108 - - 6606 - - 18148 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 1129 - - 3158 - - 4155 - - 5027 - - 13332 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 6767 - - 7417 - - 7895 - - 9611 - - 16704 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 3929 - - 6130 - - 8567 - - 9801.5 - - 11198 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 2655 - - 5970 - - 8097 - - 10680 - - 25922 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 2266 - - 4302.5 - - 5618.5 - - 7447.5 - - 45517 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 2208 - - 4950 - - 6559 - - 8847.5 - - 45378 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 2350 - - 6204.5 - - 7868 - - 10011 - - 22821 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 1997 - - 4762.5 - - 6555 - - 8263 - - 45801 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 2361 - - 4615 - - 5383 - - 8488 - - 10764 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 651 - - 3502 - - 4689 - - 6150 - - 17398 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 530 - - 2914.75 - - 4028.5 - - 5435 - - 15454 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 1674 - - 3241 - - 3990 - - 4962 - - 15267 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 2948 - - 3405.5 - - 3946 - - 5192.75 - - 7769 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 1081 - - 2301.75 - - 2728 - - 3502.5 - - 11855 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 650 - - 3754.5 - - 4820 - - 6184.5 - - 13702 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 541 - - 2059 - - 2834 - - 3679.5 - - 12061 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 811 - - 4167 - - 5447 - - 6817 - - 17537 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 2803 - - 4748 - - 5684.5 - - 7627.5 - - 14942 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 844 - - 1652.75 - - 2144 - - 2931.75 - - 10175 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 4001 - - 12216.5 - - 15589 - - 19634.5 - - 67729 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 1379 - - 4799 - - 6474 - - 8973 - - 31675 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 1686 - - 4091.5 - - 5518.5 - - 6837 - - 13269 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 815 - - 1890.25 - - 2531 - - 3295.5 - - 7512 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 1434 - - 9252.75 - - 12257.5 - - 15466.25 - - 35279 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 1864 - - 8355 - - 10728 - - 13679 - - 31087 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 2474 - - 4229.5 - - 4951 - - 6397.5 - - 28384 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 2292 - - 4616 - - 5573 - - 7000 - - 14740 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 1389 - - 3212 - - 4042 - - 5513 - - 15649 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 158 - - 2270 - - 2879 - - 3720 - - 13555 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 1161 - - 3699 - - 4720 - - 5954 - - 16997 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 2628 - - 5774.75 - - 8120.5 - - 10640 - - 23100 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 3799 - - 6766.25 - - 8431 - - 10888 - - 28497 -- hgnc_id: "HGNC:50009" - ensembl_gene_id: ENSG00000278073 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 6 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 0 - - 8 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 -- hgnc_id: "HGNC:26914" - ensembl_gene_id: ENSG00000169972 - ensembl_gene_version: "11" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 81 - - 309 - - 397 - - 491.5 - - 1601 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 82 - - 314 - - 402 - - 513 - - 1605 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 320 - - 542.25 - - 656 - - 808.5 - - 2005 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 319 - - 482 - - 566 - - 654 - - 902 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 159 - - 563.75 - - 703.5 - - 918.25 - - 1649 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 22 - - 176.5 - - 268 - - 394.5 - - 1499 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 111 - - 267 - - 332.5 - - 412 - - 1133 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 151 - - 302 - - 379.5 - - 484.25 - - 2430 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 40 - - 258 - - 335 - - 424 - - 2845 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 105 - - 236.5 - - 337 - - 430.25 - - 886 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 126 - - 317.75 - - 401.5 - - 527.25 - - 1195 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 35 - - 239.25 - - 305 - - 396 - - 767 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 202 - - 465.5 - - 588 - - 760.5 - - 1585 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 182 - - 430 - - 549 - - 680 - - 2357 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 165 - - 363 - - 446 - - 538.5 - - 1172 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 115 - - 321 - - 400 - - 517 - - 1245 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 90 - - 252 - - 349 - - 436 - - 951 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 68 - - 245.75 - - 317 - - 405 - - 2149 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 74 - - 241 - - 314.5 - - 389.75 - - 946 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 44 - - 223 - - 296 - - 382 - - 1282 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 77 - - 238 - - 319 - - 412 - - 924 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 115 - - 229.5 - - 305 - - 400.5 - - 698 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 121 - - 361.5 - - 477 - - 609 - - 1308 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 438 - - 546 - - 626 - - 777 - - 885 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 482 - - 532.75 - - 588.5 - - 654.75 - - 903 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 177 - - 358 - - 435 - - 512 - - 1050 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 213 - - 369.5 - - 469.5 - - 589 - - 4440 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 144 - - 363 - - 455 - - 563 - - 2243 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 373 - - 756 - - 943 - - 1213.5 - - 2556 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 91 - - 351 - - 423 - - 515.5 - - 2055 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 405 - - 542 - - 548 - - 651 - - 797 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 87 - - 305 - - 365 - - 448 - - 1043 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 39 - - 213 - - 293 - - 386.5 - - 1057 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 156 - - 334 - - 407 - - 490 - - 1548 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 321 - - 343.5 - - 455.5 - - 573 - - 612 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 129 - - 261.5 - - 352 - - 488.5 - - 1641 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 65 - - 328 - - 440.5 - - 594.75 - - 2196 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 26 - - 175 - - 244 - - 326.5 - - 978 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 53 - - 300 - - 388 - - 483.5 - - 1521 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 212 - - 363.75 - - 463 - - 579 - - 1038 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 133 - - 321.5 - - 410 - - 545.25 - - 1642 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 289 - - 707 - - 863 - - 1081 - - 3378 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 216 - - 504 - - 621 - - 810 - - 1600 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 264 - - 570.25 - - 706 - - 902.25 - - 1475 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 277 - - 613 - - 770.5 - - 1024.25 - - 2190 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 118 - - 725.5 - - 886 - - 1102.25 - - 2606 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 184 - - 718 - - 932 - - 1154 - - 2798 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 227 - - 386 - - 461 - - 586 - - 1168 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 246 - - 431 - - 530 - - 633 - - 1427 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 130 - - 348.5 - - 441 - - 559.5 - - 1522 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 45 - - 605 - - 742 - - 919 - - 1915 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 42 - - 363 - - 436 - - 530 - - 1286 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 197 - - 494 - - 635.5 - - 780.5 - - 1783 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 261 - - 492 - - 615 - - 791.25 - - 1912 -- hgnc_id: "HGNC:26052" - ensembl_gene_id: ENSG00000127054 - ensembl_gene_version: "20" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 1507 - - 4863.5 - - 5798 - - 7140 - - 38224 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 2413 - - 4590 - - 5779 - - 7101 - - 17490 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 2612 - - 4873 - - 5861 - - 7138.5 - - 15406 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 4452 - - 7374 - - 10238 - - 12661 - - 23400 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 2375 - - 5381.25 - - 6985.5 - - 8069.75 - - 12221 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 222 - - 2105 - - 3087 - - 4221.5 - - 11492 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 3957 - - 6766.75 - - 8400 - - 10393 - - 28166 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 3650 - - 5993.5 - - 7446.5 - - 9709.75 - - 43419 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 1046 - - 6577 - - 8444 - - 11343 - - 39755 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 743 - - 2645.5 - - 3562 - - 4339.5 - - 8361 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 1670 - - 3225.5 - - 3997.5 - - 5174 - - 11375 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 929 - - 3117.25 - - 4333 - - 5257.75 - - 8575 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 3698 - - 12364 - - 14830 - - 18057 - - 28722 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 6000 - - 11458 - - 13934 - - 16994 - - 30873 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 1543 - - 4381.5 - - 5444 - - 6748 - - 13260 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 1084 - - 3825 - - 4769 - - 5766 - - 13973 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 737 - - 3048 - - 4349 - - 5486 - - 11725 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 955 - - 3402.75 - - 4251 - - 5589.5 - - 30849 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 1078 - - 3447 - - 4592.5 - - 5631.25 - - 10892 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 461 - - 2846 - - 3894 - - 4922 - - 18436 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 793 - - 3198 - - 4240 - - 5339 - - 9517 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 1511 - - 2737 - - 3624 - - 5073.5 - - 10752 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 2165 - - 5300 - - 6617 - - 7968.5 - - 20994 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 4409 - - 8831 - - 13061 - - 14851 - - 19577 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 7615 - - 8922 - - 11580 - - 13266.75 - - 22897 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 3823 - - 8050 - - 10519 - - 12773 - - 29928 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 3346 - - 6357.25 - - 7767.5 - - 9797.75 - - 55788 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 3743 - - 7595 - - 9334 - - 11081 - - 51457 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 2963 - - 4681 - - 5659 - - 6943.5 - - 14384 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 2611 - - 7078 - - 8490 - - 10447 - - 61625 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 5164 - - 8789 - - 11003 - - 12694 - - 18284 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 1284 - - 3596 - - 4354 - - 5387 - - 13783 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 619 - - 3533.25 - - 4541 - - 5869.25 - - 12346 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 2950 - - 4583 - - 5372 - - 7107 - - 14735 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 5383 - - 6817 - - 7841 - - 9611.5 - - 13285 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 1734 - - 2861.5 - - 3518 - - 4390.75 - - 12610 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 901 - - 5111.75 - - 6327 - - 7655.75 - - 13589 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 1253 - - 4567.5 - - 5936 - - 7495.5 - - 17184 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 1557 - - 6220 - - 7527 - - 9121 - - 22853 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 5774 - - 8771.75 - - 11199 - - 13169.25 - - 36326 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1535 - - 3606.5 - - 4713 - - 5953.25 - - 15762 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 3362 - - 7539 - - 9028 - - 10749.5 - - 35382 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 2271 - - 7851 - - 9731 - - 12327 - - 28374 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 2647 - - 5071.5 - - 6153.5 - - 7824 - - 15264 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 2281 - - 4520.5 - - 5630.5 - - 6896.5 - - 15713 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 1169 - - 6081.5 - - 7249.5 - - 8496 - - 18235 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 2454 - - 5973 - - 7117 - - 8544 - - 20828 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 4446 - - 6211.5 - - 7254 - - 8673 - - 22487 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 3779 - - 6440 - - 7633 - - 9141 - - 26489 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 2329 - - 4847 - - 6013 - - 7756.5 - - 19343 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 1232 - - 10033 - - 11731 - - 15072 - - 30579 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 1850 - - 7102 - - 8571 - - 10247 - - 24546 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 5173 - - 10590.75 - - 14298.5 - - 17299.75 - - 44337 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 3124 - - 6728 - - 8364.5 - - 10292.5 - - 18188 -- hgnc_id: "HGNC:50171" - ensembl_gene_id: ENSG00000283712 - ensembl_gene_version: "1" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 8 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 0 - - 0 - - 0 - - 1 - - 2 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 0 - - 0 - - 0 - - 0 - - 4 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 0 - - 0 - - 0 - - 0 - - 0 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 0 - - 0 - - 0 - - 0.25 - - 1 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 0 - - 0 - - 0 - - 0 - - 5 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 0 - - 0 - - 0 - - 0 - - 3 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 0 - - 0 - - 0 - - 0 - - 2 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 0 - - 0 - - 0 - - 0 - - 1 -- hgnc_id: "HGNC:28116" - ensembl_gene_id: ENSG00000224051 - ensembl_gene_version: "6" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 372 - - 1262 - - 1612 - - 2037 - - 7604 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 310 - - 1072 - - 1404 - - 1864 - - 5366 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 462 - - 1427 - - 1784 - - 2288 - - 4379 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 914 - - 1311 - - 1425 - - 1701 - - 2205 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 348 - - 1071 - - 1381.5 - - 1669.75 - - 2493 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 83 - - 483 - - 901 - - 1589.5 - - 7229 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 345 - - 982.75 - - 1219.5 - - 1507 - - 3713 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 203 - - 1048.5 - - 1310 - - 1641.5 - - 10378 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 141 - - 865.5 - - 1120 - - 1392 - - 8527 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 394 - - 972.75 - - 1252.5 - - 1527.75 - - 2987 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 601 - - 1360 - - 1757 - - 2175.75 - - 4909 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 189 - - 987 - - 1246.5 - - 1551.75 - - 3291 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 593 - - 1117 - - 1466 - - 1807 - - 3102 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 463 - - 1126 - - 1366 - - 1705 - - 3091 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 570 - - 1731.5 - - 2195 - - 2673 - - 6554 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 358 - - 1573 - - 1949 - - 2529 - - 7483 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 347 - - 1021 - - 1507 - - 2009 - - 4376 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 183 - - 835.25 - - 1081 - - 1317.75 - - 5694 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 422 - - 1027 - - 1257.5 - - 1523.75 - - 4478 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 129 - - 931 - - 1208 - - 1486 - - 5851 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 176 - - 808 - - 1046 - - 1298.5 - - 2153 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 489 - - 870.5 - - 1216 - - 1742.5 - - 3322 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 408 - - 1364.5 - - 1702 - - 2182.5 - - 4134 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 1032 - - 1272 - - 1601 - - 1754 - - 2668 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 1052 - - 1308 - - 1412 - - 1815.75 - - 2020 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 342 - - 1093 - - 1402 - - 1741 - - 5898 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 544 - - 1442.5 - - 2258.5 - - 3650 - - 30020 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 316 - - 1156 - - 1434 - - 1794.5 - - 7837 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 1098 - - 2849.5 - - 3617 - - 4973.5 - - 16315 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 199 - - 1143 - - 1413 - - 1772.5 - - 8597 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 741 - - 1156 - - 1232 - - 1348 - - 2382 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 217 - - 1327 - - 1826 - - 2331 - - 10616 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 409 - - 3227 - - 5265.5 - - 7207.5 - - 16694 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 858 - - 1751 - - 2140 - - 2651 - - 6937 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 1695 - - 2017.5 - - 2686.5 - - 3960.5 - - 6098 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 1292 - - 2697.25 - - 3326.5 - - 4109 - - 12816 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 166 - - 867.25 - - 1308.5 - - 1774.75 - - 6134 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 122 - - 1125.5 - - 1819 - - 2824 - - 16280 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 244 - - 1027 - - 1299 - - 1578 - - 4494 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 239 - - 755 - - 981 - - 1356.25 - - 2540 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 367 - - 757.25 - - 964.5 - - 1238.5 - - 3821 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 314 - - 685 - - 850 - - 1039 - - 2849 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 552 - - 1528 - - 1968 - - 2359 - - 5058 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 992 - - 2117.5 - - 2715.5 - - 3355.75 - - 8702 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 555 - - 1093.75 - - 1367.5 - - 1675.25 - - 3554 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 516 - - 2173.75 - - 2630 - - 3282.5 - - 8163 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 683 - - 2345 - - 2927 - - 3774 - - 9730 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 780 - - 1477 - - 2056 - - 2826.5 - - 6550 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 934 - - 1737 - - 2021 - - 2500 - - 6291 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 249 - - 1477.5 - - 2157 - - 2879.5 - - 8572 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 324 - - 5616 - - 7790 - - 9952 - - 23134 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 337 - - 1180 - - 1511 - - 1879 - - 5117 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 603 - - 1243.75 - - 1549 - - 1854.25 - - 4907 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 664 - - 1498.5 - - 2088.5 - - 2892.25 - - 8444 -- hgnc_id: "HGNC:15661" - ensembl_gene_id: ENSG00000169962 - ensembl_gene_version: "4" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 4 - - 30 - - 43 - - 56 - - 183 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 4 - - 33 - - 46 - - 65 - - 1064 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 5 - - 37.25 - - 55 - - 83 - - 290 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 14 - - 29 - - 42 - - 71 - - 96 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 29 - - 76.25 - - 107 - - 143 - - 367 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 1 - - 53 - - 84 - - 137 - - 451 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 4 - - 24 - - 33 - - 47 - - 259 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 3 - - 29 - - 43 - - 62 - - 1213 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 0 - - 17 - - 24 - - 34 - - 365 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 10 - - 29.75 - - 42.5 - - 56.25 - - 146 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 11 - - 39 - - 51 - - 66.25 - - 157 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 7 - - 36.25 - - 49 - - 67 - - 266 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 40 - - 121.5 - - 170 - - 216 - - 655 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 48 - - 127 - - 162 - - 206 - - 732 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 17 - - 51 - - 67 - - 84.5 - - 251 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 19 - - 43 - - 55 - - 72 - - 144 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 6 - - 35 - - 46 - - 61 - - 205 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 8 - - 34.25 - - 47.5 - - 63.75 - - 280 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 8 - - 44.25 - - 58 - - 75 - - 158 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 7 - - 36 - - 48 - - 61 - - 202 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 10 - - 26 - - 38 - - 50 - - 287 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 8 - - 25 - - 35 - - 47.5 - - 146 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 4 - - 41 - - 61 - - 85.5 - - 562 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 33 - - 59 - - 92 - - 101 - - 115 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 34 - - 57 - - 73 - - 103.25 - - 169 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 7 - - 33 - - 45 - - 62 - - 551 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 7 - - 71.25 - - 152.5 - - 263.5 - - 2192 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 6 - - 30 - - 40 - - 54 - - 316 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 23 - - 87 - - 143 - - 232.5 - - 1216 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 6 - - 31 - - 42 - - 55 - - 293 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 44 - - 72 - - 83 - - 111 - - 146 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 9 - - 53 - - 72 - - 101 - - 466 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 9 - - 68 - - 111.5 - - 176 - - 1006 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 11 - - 41 - - 63 - - 97 - - 478 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 59 - - 79.25 - - 91.5 - - 123.75 - - 204 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 4 - - 39 - - 65.5 - - 97 - - 2302 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 7 - - 48 - - 70 - - 107 - - 436 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 24 - - 69 - - 94 - - 132 - - 403 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 8 - - 57 - - 75 - - 103 - - 319 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 10 - - 43.75 - - 64 - - 88.25 - - 195 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1 - - 15 - - 22 - - 31 - - 174 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 51 - - 174.5 - - 260 - - 372 - - 1284 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 15 - - 44 - - 59 - - 82 - - 456 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 38 - - 148.5 - - 203.5 - - 299.5 - - 963 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 0 - - 11 - - 17 - - 24 - - 133 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 4 - - 36 - - 52 - - 79 - - 474 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 7 - - 42 - - 57 - - 80 - - 332 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 34 - - 147.5 - - 270 - - 471.5 - - 1386 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 171 - - 343 - - 490 - - 688 - - 5566 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 9 - - 38 - - 61 - - 90 - - 310 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 7 - - 139 - - 176 - - 219 - - 474 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 18 - - 69 - - 96 - - 131 - - 1481 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 8 - - 44 - - 57 - - 80.75 - - 179 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 23 - - 58 - - 90 - - 147.5 - - 552 -- hgnc_id: "HGNC:3084" - ensembl_gene_id: ENSG00000107404 - ensembl_gene_version: "19" - records: - - tissue: Adipose Tissue - tissue_detailed: Adipose - Subcutaneous - tpms: - - 1236 - - 3720 - - 4597 - - 5622.5 - - 23803 - - tissue: Adipose Tissue - tissue_detailed: Adipose - Visceral (Omentum) - tpms: - - 1464 - - 3463 - - 4352 - - 5328 - - 14349 - - tissue: Adrenal Gland - tissue_detailed: Adrenal Gland - tpms: - - 3013 - - 5003.75 - - 6208.5 - - 7596.25 - - 20174 - - tissue: Bladder - tissue_detailed: Bladder - tpms: - - 2461 - - 4732 - - 5993 - - 7176 - - 13147 - - tissue: Blood - tissue_detailed: Cells - EBV-transformed lymphocytes - tpms: - - 746 - - 1818.75 - - 2341 - - 2688.5 - - 4846 - - tissue: Blood - tissue_detailed: Whole Blood - tpms: - - 59 - - 622 - - 937 - - 1420 - - 5692 - - tissue: Blood Vessel - tissue_detailed: Artery - Aorta - tpms: - - 2355 - - 3738.25 - - 4470 - - 5401 - - 11533 - - tissue: Blood Vessel - tissue_detailed: Artery - Coronary - tpms: - - 2274 - - 3703.25 - - 4540 - - 5661.25 - - 30924 - - tissue: Blood Vessel - tissue_detailed: Artery - Tibial - tpms: - - 656 - - 3770.5 - - 4636 - - 5821.5 - - 31043 - - tissue: Brain - tissue_detailed: Brain - Amygdala - tpms: - - 1915 - - 5431.25 - - 7454.5 - - 9486.25 - - 19799 - - tissue: Brain - tissue_detailed: Brain - Anterior cingulate cortex (BA24) - tpms: - - 2879 - - 7324.75 - - 9161 - - 11413.25 - - 32609 - - tissue: Brain - tissue_detailed: Brain - Caudate (basal ganglia) - tpms: - - 1260 - - 4951 - - 6482.5 - - 8025.25 - - 14614 - - tissue: Brain - tissue_detailed: Brain - Cerebellar Hemisphere - tpms: - - 2580 - - 6267 - - 7507 - - 9030.5 - - 18530 - - tissue: Brain - tissue_detailed: Brain - Cerebellum - tpms: - - 2880 - - 5923 - - 7252 - - 8975 - - 15759 - - tissue: Brain - tissue_detailed: Brain - Cortex - tpms: - - 3187 - - 8184.5 - - 9982 - - 11644 - - 33751 - - tissue: Brain - tissue_detailed: Brain - Frontal Cortex (BA9) - tpms: - - 2799 - - 7182 - - 8939 - - 10837 - - 28324 - - tissue: Brain - tissue_detailed: Brain - Hippocampus - tpms: - - 2016 - - 5209 - - 7236 - - 9839 - - 25603 - - tissue: Brain - tissue_detailed: Brain - Hypothalamus - tpms: - - 850 - - 4372.25 - - 5675.5 - - 7327.75 - - 34771 - - tissue: Brain - tissue_detailed: Brain - Nucleus accumbens (basal ganglia) - tpms: - - 1460 - - 5634.25 - - 7396 - - 9199 - - 21480 - - tissue: Brain - tissue_detailed: Brain - Putamen (basal ganglia) - tpms: - - 1080 - - 4395 - - 6199 - - 7608 - - 22642 - - tissue: Brain - tissue_detailed: Brain - Spinal cord (cervical c-1) - tpms: - - 970 - - 3641.5 - - 4460 - - 5693 - - 9076 - - tissue: Brain - tissue_detailed: Brain - Substantia nigra - tpms: - - 2083 - - 3494.5 - - 5088 - - 6352 - - 10237 - - tissue: Breast - tissue_detailed: Breast - Mammary Tissue - tpms: - - 1786 - - 3982 - - 4883 - - 5964.5 - - 13338 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Ectocervix - tpms: - - 4392 - - 5074 - - 5429 - - 6108 - - 8599 - - tissue: Cervix Uteri - tissue_detailed: Cervix - Endocervix - tpms: - - 4145 - - 5380 - - 5772.5 - - 6204.75 - - 10773 - - tissue: Colon - tissue_detailed: Colon - Sigmoid - tpms: - - 2756 - - 5399 - - 6585 - - 8347 - - 19495 - - tissue: Colon - tissue_detailed: Colon - Transverse - tpms: - - 2254 - - 4460.75 - - 5395 - - 6689.5 - - 36528 - - tissue: Esophagus - tissue_detailed: Esophagus - Gastroesophageal Junction - tpms: - - 2774 - - 4928 - - 5854 - - 7101.5 - - 31928 - - tissue: Esophagus - tissue_detailed: Esophagus - Mucosa - tpms: - - 2829 - - 6022 - - 7465 - - 9331.5 - - 23928 - - tissue: Esophagus - tissue_detailed: Esophagus - Muscularis - tpms: - - 1646 - - 4928 - - 5963 - - 7337 - - 25214 - - tissue: Fallopian Tube - tissue_detailed: Fallopian Tube - tpms: - - 3472 - - 5220 - - 6141 - - 7098 - - 10207 - - tissue: Heart - tissue_detailed: Heart - Atrial Appendage - tpms: - - 870 - - 3585 - - 4235 - - 5361 - - 13017 - - tissue: Heart - tissue_detailed: Heart - Left Ventricle - tpms: - - 631 - - 3943.5 - - 5642 - - 7524 - - 16560 - - tissue: Kidney - tissue_detailed: Kidney - Cortex - tpms: - - 1771 - - 3324 - - 4209 - - 5246 - - 10515 - - tissue: Kidney - tissue_detailed: Kidney - Medulla - tpms: - - 3178 - - 4360 - - 5823.5 - - 7510.75 - - 9364 - - tissue: Liver - tissue_detailed: Liver - tpms: - - 1608 - - 3023.25 - - 3805.5 - - 4704 - - 16225 - - tissue: Lung - tissue_detailed: Lung - tpms: - - 675 - - 4072.25 - - 4946.5 - - 6283.25 - - 12401 - - tissue: Muscle - tissue_detailed: Muscle - Skeletal - tpms: - - 3523 - - 12608.5 - - 15476 - - 19363.5 - - 42405 - - tissue: Nerve - tissue_detailed: Nerve - Tibial - tpms: - - 1727 - - 6958 - - 8380 - - 10046 - - 26457 - - tissue: Ovary - tissue_detailed: Ovary - tpms: - - 2567 - - 4659.5 - - 5673 - - 6702 - - 12687 - - tissue: Pancreas - tissue_detailed: Pancreas - tpms: - - 1812 - - 3546.75 - - 4571.5 - - 5919 - - 13687 - - tissue: Pituitary - tissue_detailed: Pituitary - tpms: - - 3443 - - 5411 - - 6584 - - 7991 - - 27727 - - tissue: Prostate - tissue_detailed: Prostate - tpms: - - 1723 - - 4607 - - 5785 - - 6971 - - 15610 - - tissue: Salivary Gland - tissue_detailed: Minor Salivary Gland - tpms: - - 2634 - - 4774.75 - - 5818 - - 7186.75 - - 24324 - - tissue: Skin - tissue_detailed: Cells - Cultured fibroblasts - tpms: - - 1702 - - 3627.5 - - 4696.5 - - 6242.75 - - 14674 - - tissue: Skin - tissue_detailed: Skin - Not Sun Exposed (Suprapubic) - tpms: - - 1019 - - 5437.25 - - 6473 - - 7777.5 - - 15324 - - tissue: Skin - tissue_detailed: Skin - Sun Exposed (Lower leg) - tpms: - - 1933 - - 5415 - - 6458 - - 7756 - - 23201 - - tissue: Small Intestine - tissue_detailed: Small Intestine - Terminal Ileum - tpms: - - 2233 - - 3802.5 - - 4344 - - 5277.5 - - 13602 - - tissue: Spleen - tissue_detailed: Spleen - tpms: - - 1528 - - 3196 - - 3949 - - 4734 - - 10148 - - tissue: Stomach - tissue_detailed: Stomach - tpms: - - 2356 - - 4552 - - 5441 - - 6670.5 - - 15487 - - tissue: Testis - tissue_detailed: Testis - tpms: - - 752 - - 8946 - - 10639 - - 13149 - - 38746 - - tissue: Thyroid - tissue_detailed: Thyroid - tpms: - - 1227 - - 4761 - - 5796 - - 6905 - - 17139 - - tissue: Uterus - tissue_detailed: Uterus - tpms: - - 3159 - - 4904.75 - - 6003 - - 7635 - - 19127 - - tissue: Vagina - tissue_detailed: Vagina - tpms: - - 3546 - - 4933 - - 5843 - - 7539 - - 16450 - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap deleted file mode 100644 index 6eb64025..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap +++ /dev/null @@ -1,154 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- hgnc_id: "HGNC:12403" - symbol: TTN - name: titin - locus_group: protein-coding gene - locus_type: gene with protein product - status: Approved - location: 2q31.2 - location_sortable: 02q31.2 - alias_symbol: - - CMPD4 - - FLJ32040 - - TMD - - CMH9 - - LGMD2J - - MYLK5 - prev_symbol: - - CMD1G - prev_name: - - "cardiomyopathy, dilated 1G (autosomal dominant)" - gene_group: - - Fibronectin type III domain containing - - I-set domain containing - - Myosin light chain kinase family - gene_group_id: - - 555 - - 593 - - 1668 - date_approved_reserved: 1991-06-07 - date_name_changed: 2004-02-13 - date_modified: 2023-03-15 - entrez_id: "7273" - ensembl_gene_id: ENSG00000155657 - vega_id: OTTHUMG00000154448 - ucsc_id: uc031rqc.3 - ena: - - X90568 - refseq_accession: - - NM_133378 - ccds_id: - - CCDS54423 - - CCDS54424 - - CCDS33337 - - CCDS54421 - - CCDS54422 - - CCDS59435 - uniprot_ids: - - Q8WZ42 - pubmed_id: - - 2129545 - - 10051295 - mgd_id: - - "MGI:98864" - rgd_id: - - "RGD:621114" - lsdb: - - "http://www.angis.org.au/Databases/Heart/heartbreak.html|FHC Mutation Database" - - "http://www.LOVD.nl/TTN|TTN @ LOVD" - - "http://www.dmd.nl/nmdb2/home.php?select_db=TTN|Leiden Muscular Dystrophy pages" - - "http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_391.xml|LRG_391" - omim_id: - - "188840" - orphanet: 120326 - iuphar: "objectId:2265" - agr: "HGNC:12403" - mane_select: - - ENST00000589042.5 - - NM_001267550.2 -- hgnc_id: "HGNC:1097" - symbol: BRAF - name: "B-Raf proto-oncogene, serine/threonine kinase" - locus_group: protein-coding gene - locus_type: gene with protein product - status: Approved - location: 7q34 - location_sortable: 07q34 - alias_symbol: - - BRAF1 - - BRAF-1 - prev_name: - - v-raf murine sarcoma viral oncogene homolog B - gene_group: - - Mitogen-activated protein kinase kinase kinases - - RAF family - gene_group_id: - - 654 - - 1157 - date_approved_reserved: 1991-07-16 - date_name_changed: 2014-06-26 - date_modified: 2023-01-20 - entrez_id: "673" - ensembl_gene_id: ENSG00000157764 - vega_id: OTTHUMG00000157457 - ucsc_id: uc003vwc.5 - ena: - - M95712 - refseq_accession: - - NM_004333 - ccds_id: - - CCDS94219 - - CCDS87555 - - CCDS94218 - - CCDS5863 - uniprot_ids: - - P15056 - pubmed_id: - - 2284096 - - 1565476 - mgd_id: - - "MGI:88190" - rgd_id: - - "RGD:619908" - lsdb: - - "http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_299.xml|LRG_299" - cosmic: BRAF - omim_id: - - "164757" - orphanet: 119066 - iuphar: "objectId:1943" - agr: "HGNC:1097" - mane_select: - - ENST00000646891.2 - - NM_004333.6 -- hgnc_id: "HGNC:8" - symbol: A2MP1 - name: alpha-2-macroglobulin pseudogene 1 - locus_group: pseudogene - locus_type: pseudogene - status: Approved - location: 12p13.31 - location_sortable: 12p13.31 - prev_symbol: - - A2MP - prev_name: - - alpha-2-macroglobulin pseudogene - date_approved_reserved: 1991-09-12 - date_symbol_changed: 2010-02-24 - date_name_changed: 2010-02-24 - date_modified: 2016-08-22 - entrez_id: "3" - ensembl_gene_id: ENSG00000256069 - vega_id: OTTHUMG00000168334 - ena: - - M24415 - refseq_accession: - - NG_001067 - pubmed_id: - - 2478422 - pseudogene.org: PGOHUM00000291221 - agr: "HGNC:8" - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap deleted file mode 100644 index e57691f0..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap +++ /dev/null @@ -1,38 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- hgnc_id: "HGNC:130" - ensembl_gene_id: ENSG00000107796 - ncbi_gene_id: "59" - gene_symbol: ACTA2 - mim_gene_id: "102620" - disease_phenotype: Familial thoracic aortic aneurysm - disorder_mim: "611788" - phenotype_category: Cardiovascular - inheritance: AD - sf_list_version: "1.0" - variants_to_report: All P and LP -- hgnc_id: "HGNC:143" - ensembl_gene_id: ENSG00000159251 - ncbi_gene_id: "70" - gene_symbol: ACTC1 - mim_gene_id: "102540" - disease_phenotype: Hypertrophic cardiomyopathy - disorder_mim: "612098" - phenotype_category: Cardiovascular - inheritance: AD - sf_list_version: "1.0" - variants_to_report: All P and LP -- hgnc_id: "HGNC:175" - ensembl_gene_id: ENSG00000139567 - ncbi_gene_id: "94" - gene_symbol: ACVRL1 - mim_gene_id: "601284" - disease_phenotype: Hereditary hemorrhagic telangiectasia - disorder_mim: "600376" - phenotype_category: Miscellaneous - inheritance: AD - sf_list_version: "3.0" - variants_to_report: All P and LP - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap deleted file mode 100644 index 3cd24e37..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap +++ /dev/null @@ -1,32 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- hgnc_id: "HGNC:20" - omim_id: "OMIM:613287" - disease_name: "Charcot-Marie-Tooth disease, axonal, type 2N" -- hgnc_id: "HGNC:20" - omim_id: "OMIM:616339" - disease_name: "Epileptic encephalopathy, early infantile, 29" -- hgnc_id: "HGNC:20" - omim_id: "OMIM:619661" - disease_name: "Leukoencephalopathy, hereditary diffuse, with spheroids 2" -- hgnc_id: "HGNC:20" - omim_id: "OMIM:619691" - disease_name: "Trichothiodystrophy 8, nonphotosensitive" -- hgnc_id: "HGNC:23" - omim_id: "OMIM:613163" - disease_name: GABA-transaminase deficiency -- hgnc_id: "HGNC:29" - omim_id: "OMIM:205400" - disease_name: Tangier disease -- hgnc_id: "HGNC:29" - omim_id: "OMIM:604091" - disease_name: "HDL deficiency, familial, 1" -- hgnc_id: "HGNC:32" - omim_id: "OMIM:618808" - disease_name: Intellectual developmental disorder with poor growth and with or without seizures or ataxia -- hgnc_id: "HGNC:33" - omim_id: "OMIM:610921" - disease_name: "Surfactant metabolism dysfunction, pulmonary, 3" - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap deleted file mode 100644 index 0504510f..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap +++ /dev/null @@ -1,302 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- hgnc_id: "HGNC:100" - p_haplo: 0.847725142832013 - p_triplo: 0.922859618105275 -- hgnc_id: "HGNC:10000" - p_haplo: 0.109117054117665 - p_triplo: 0.198800271208977 -- hgnc_id: "HGNC:10001" - p_haplo: 0.204562266176714 - p_triplo: 0.162285057802179 -- hgnc_id: "HGNC:10002" - p_haplo: 0.936350369744503 - p_triplo: 0.805643184079852 -- hgnc_id: "HGNC:10003" - p_haplo: 0.769818939204354 - p_triplo: 0.75197161314637 -- hgnc_id: "HGNC:10004" - p_haplo: 0.603943883006572 - p_triplo: 0.248171665304568 -- hgnc_id: "HGNC:10006" - p_haplo: 0.0993357375182574 - p_triplo: 0.195904231949219 -- hgnc_id: "HGNC:10007" - p_haplo: 0.192942277983282 - p_triplo: 0.266136321195021 -- hgnc_id: "HGNC:10008" - p_haplo: 0.343749376526259 - p_triplo: 0.263185465210448 -- hgnc_id: "HGNC:10009" - p_haplo: 0.160616590539096 - p_triplo: 0.392420038388129 -- hgnc_id: "HGNC:1001" - p_haplo: 0.986859084770977 - p_triplo: 0.66980122387033 -- hgnc_id: "HGNC:10011" - p_haplo: 0.934707913361006 - p_triplo: 0.971839427655645 -- hgnc_id: "HGNC:10012" - p_haplo: 0.136476364042971 - p_triplo: 0.21646717578546 -- hgnc_id: "HGNC:10013" - p_haplo: 0.237069878225192 - p_triplo: 0.354185782840739 -- hgnc_id: "HGNC:10017" - p_haplo: 0.159555407130066 - p_triplo: 0.20570186562073 -- hgnc_id: "HGNC:10018" - p_haplo: 0.670581614496138 - p_triplo: 0.95523786414312 -- hgnc_id: "HGNC:10019" - p_haplo: 0.818340832230546 - p_triplo: 0.926492401158832 -- hgnc_id: "HGNC:1002" - p_haplo: 0.732886682022641 - p_triplo: 0.521623366521422 -- hgnc_id: "HGNC:10020" - p_haplo: 0.812475515242985 - p_triplo: 0.605402959732318 -- hgnc_id: "HGNC:10021" - p_haplo: 0.333723746201624 - p_triplo: 0.36082044031516 -- hgnc_id: "HGNC:10023" - p_haplo: 0.0915388985394556 - p_triplo: 0.994992510054623 -- hgnc_id: "HGNC:10024" - p_haplo: 0.254430435786958 - p_triplo: 0.16853227857456 -- hgnc_id: "HGNC:10025" - p_haplo: 0.988119537929302 - p_triplo: 0.948823000020974 -- hgnc_id: "HGNC:10026" - p_haplo: 0.230414516747956 - p_triplo: 0.115880605634609 -- hgnc_id: "HGNC:10027" - p_haplo: 0.131800946326176 - p_triplo: 0.0792657866777857 -- hgnc_id: "HGNC:1004" - p_haplo: 0.595467487321396 - p_triplo: 0.561246331214584 -- hgnc_id: "HGNC:10044" - p_haplo: 0.136554036493754 - p_triplo: 0.432919570522516 -- hgnc_id: "HGNC:10045" - p_haplo: 0.0657328600471912 - p_triplo: 0.152724007111251 -- hgnc_id: "HGNC:10046" - p_haplo: 0.123487399040562 - p_triplo: 0.292429833705363 -- hgnc_id: "HGNC:10047" - p_haplo: 0.113641413264213 - p_triplo: 0.15416419022176 -- hgnc_id: "HGNC:10048" - p_haplo: 0.323832150579912 - p_triplo: 0.484784910591342 -- hgnc_id: "HGNC:1005" - p_haplo: 0.13983424517764 - p_triplo: 0.665822113127456 -- hgnc_id: "HGNC:10050" - p_haplo: 0.151955575339062 - p_triplo: 0.360102932571357 -- hgnc_id: "HGNC:10055" - p_haplo: 0.8275594314612 - p_triplo: 0.750584600354292 -- hgnc_id: "HGNC:10056" - p_haplo: 0.572720043739844 - p_triplo: 0.557460533408588 -- hgnc_id: "HGNC:10057" - p_haplo: 0.43622072041287 - p_triplo: 0.478395936645976 -- hgnc_id: "HGNC:10058" - p_haplo: 0.408755799209985 - p_triplo: 0.687888809068107 -- hgnc_id: "HGNC:10059" - p_haplo: 0.547580136779403 - p_triplo: 0.213633505701498 -- hgnc_id: "HGNC:1006" - p_haplo: 0.0967189894286233 - p_triplo: 0.635810845410965 -- hgnc_id: "HGNC:10060" - p_haplo: 0.902837090555477 - p_triplo: 0.795723116627289 -- hgnc_id: "HGNC:10061" - p_haplo: 0.807344631837219 - p_triplo: 0.897963403432895 -- hgnc_id: "HGNC:10062" - p_haplo: 0.725491030597039 - p_triplo: 0.853555697901964 -- hgnc_id: "HGNC:10063" - p_haplo: 0.27172370910632 - p_triplo: 0.128434474008952 -- hgnc_id: "HGNC:10064" - p_haplo: 0.910928119204422 - p_triplo: 0.982737121147012 -- hgnc_id: "HGNC:10065" - p_haplo: 0.966241318707073 - p_triplo: 0.999316859332394 -- hgnc_id: "HGNC:10066" - p_haplo: 0.874578751061676 - p_triplo: 0.667628979581721 -- hgnc_id: "HGNC:10067" - p_haplo: 0.971905354012335 - p_triplo: 0.632759998178046 -- hgnc_id: "HGNC:10068" - p_haplo: 0.160536244483389 - p_triplo: 0.676928473762138 -- hgnc_id: "HGNC:10069" - p_haplo: 0.516981942796761 - p_triplo: 0.342319189219115 -- hgnc_id: "HGNC:10070" - p_haplo: 0.412993029671106 - p_triplo: 0.647164090440479 -- hgnc_id: "HGNC:10071" - p_haplo: 0.889669101721259 - p_triplo: 0.865038452252153 -- hgnc_id: "HGNC:10072" - p_haplo: 0.313481235351924 - p_triplo: 0.413512124382261 -- hgnc_id: "HGNC:10073" - p_haplo: 0.563424407998167 - p_triplo: 0.762765692360237 -- hgnc_id: "HGNC:10074" - p_haplo: 0.338052145296305 - p_triplo: 0.719598976897797 -- hgnc_id: "HGNC:10075" - p_haplo: 0.506691395826307 - p_triplo: 0.373015782430888 -- hgnc_id: "HGNC:10078" - p_haplo: 0.427205434844887 - p_triplo: 0.402527268859349 -- hgnc_id: "HGNC:10079" - p_haplo: 0.792154716489579 - p_triplo: 0.178804113361382 -- hgnc_id: "HGNC:1008" - p_haplo: 0.806885279355396 - p_triplo: 0.835307652698077 -- hgnc_id: "HGNC:10080" - p_haplo: 0.81930946071566 - p_triplo: 0.902593623214117 -- hgnc_id: "HGNC:101" - p_haplo: 0.308050749124341 - p_triplo: 0.152217559979216 -- hgnc_id: "HGNC:1012" - p_haplo: 0.272605440120499 - p_triplo: 0.342006685383596 -- hgnc_id: "HGNC:1014" - p_haplo: 0.67795878156773 - p_triplo: 0.719866793984883 -- hgnc_id: "HGNC:102" - p_haplo: 0.522840450486518 - p_triplo: 0.526092416473453 -- hgnc_id: "HGNC:1020" - p_haplo: 0.292157116829386 - p_triplo: 0.764017189749496 -- hgnc_id: "HGNC:10241" - p_haplo: 0.219780311934887 - p_triplo: 0.299791796631666 -- hgnc_id: "HGNC:10249" - p_haplo: 0.734643174502237 - p_triplo: 0.601533081436727 -- hgnc_id: "HGNC:10250" - p_haplo: 0.469972783685526 - p_triplo: 0.282066970859767 -- hgnc_id: "HGNC:10251" - p_haplo: 0.956448943208406 - p_triplo: 0.728703446025755 -- hgnc_id: "HGNC:10252" - p_haplo: 0.996419024914427 - p_triplo: 0.992952129378599 -- hgnc_id: "HGNC:10253" - p_haplo: 0.936596364124579 - p_triplo: 0.594809720411909 -- hgnc_id: "HGNC:10254" - p_haplo: 0.279145728234666 - p_triplo: 0.419701637119203 -- hgnc_id: "HGNC:10256" - p_haplo: 0.972694441288497 - p_triplo: 0.983741116025604 -- hgnc_id: "HGNC:10257" - p_haplo: 0.823552551517366 - p_triplo: 0.537520048832893 -- hgnc_id: "HGNC:10258" - p_haplo: 0.941802528975386 - p_triplo: 0.907788886358466 -- hgnc_id: "HGNC:10259" - p_haplo: 0.937964435508447 - p_triplo: 0.911871012847644 -- hgnc_id: "HGNC:10260" - p_haplo: 0.843043990875882 - p_triplo: 0.904322981083521 -- hgnc_id: "HGNC:10261" - p_haplo: 0.0851224600257051 - p_triplo: 0.303676877707228 -- hgnc_id: "HGNC:10263" - p_haplo: 0.0545027456161877 - p_triplo: 0.449799055360849 -- hgnc_id: "HGNC:1027" - p_haplo: 0.811375109169534 - p_triplo: 0.198455538271003 -- hgnc_id: "HGNC:10288" - p_haplo: 0.540339606631162 - p_triplo: 0.0962868691649536 -- hgnc_id: "HGNC:10289" - p_haplo: 0.937967608268506 - p_triplo: 0.797023773570884 -- hgnc_id: "HGNC:1029" - p_haplo: 0.241487016281391 - p_triplo: 0.0810890822808233 -- hgnc_id: "HGNC:10290" - p_haplo: 0.499247168025553 - p_triplo: 0.484245665160061 -- hgnc_id: "HGNC:10291" - p_haplo: 0.475100650061675 - p_triplo: 0.133411170868771 -- hgnc_id: "HGNC:10293" - p_haplo: 0.698331684601822 - p_triplo: 0.588194694674049 -- hgnc_id: "HGNC:10294" - p_haplo: 0.399912025122001 - p_triplo: 0.21654423808381 -- hgnc_id: "HGNC:10296" - p_haplo: 0.772143397967072 - p_triplo: 0.316968187550486 -- hgnc_id: "HGNC:10297" - p_haplo: 0.10769151568157 - p_triplo: 0.22006944784855 -- hgnc_id: "HGNC:10299" - p_haplo: 0.792329322970926 - p_triplo: 0.606316602629384 -- hgnc_id: "HGNC:103" - p_haplo: 0.972639485875643 - p_triplo: 0.998704098843897 -- hgnc_id: "HGNC:1030" - p_haplo: 0.815150347443264 - p_triplo: 0.22804391177966 -- hgnc_id: "HGNC:10301" - p_haplo: 0.975008349896912 - p_triplo: 0.377718966401104 -- hgnc_id: "HGNC:10302" - p_haplo: 0.936716569876566 - p_triplo: 0.289600357344264 -- hgnc_id: "HGNC:10303" - p_haplo: 0.932390415645617 - p_triplo: 0.0950189047579182 -- hgnc_id: "HGNC:10304" - p_haplo: 0.827997536288805 - p_triplo: 0.335055774106253 -- hgnc_id: "HGNC:10305" - p_haplo: 0.841863678164315 - p_triplo: 0.368154853050523 -- hgnc_id: "HGNC:10306" - p_haplo: 0.983259496689891 - p_triplo: 0.419881262046933 -- hgnc_id: "HGNC:10307" - p_haplo: 0.956530279022528 - p_triplo: 0.203572831361337 -- hgnc_id: "HGNC:10310" - p_haplo: 0.821807312029074 - p_triplo: 0.498742959938776 - diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap b/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap deleted file mode 100644 index a677a737..00000000 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap +++ /dev/null @@ -1,203 +0,0 @@ ---- -source: src/genes/cli/data/mod.rs -expression: records ---- -- hgnc_id: "HGNC:100" - s_het: 0.019 -- hgnc_id: "HGNC:10000" - s_het: 0.004 -- hgnc_id: "HGNC:10001" - s_het: 0.006 -- hgnc_id: "HGNC:10002" - s_het: 0.011 -- hgnc_id: "HGNC:10003" - s_het: 0.025 -- hgnc_id: "HGNC:10004" - s_het: 0.007 -- hgnc_id: "HGNC:10006" - s_het: 0.006 -- hgnc_id: "HGNC:10007" - s_het: 0.00079 -- hgnc_id: "HGNC:10008" - s_het: 0.015 -- hgnc_id: "HGNC:10009" - s_het: 0.007 -- hgnc_id: "HGNC:1001" - s_het: 0.023 -- hgnc_id: "HGNC:10011" - s_het: 0.014 -- hgnc_id: "HGNC:10012" - s_het: 0.003 -- hgnc_id: "HGNC:10017" - s_het: 0.006 -- hgnc_id: "HGNC:10018" - s_het: 0.014 -- hgnc_id: "HGNC:10019" - s_het: 0.014 -- hgnc_id: "HGNC:1002" - s_het: 0.01 -- hgnc_id: "HGNC:10020" - s_het: 0.015 -- hgnc_id: "HGNC:10023" - s_het: 0.013 -- hgnc_id: "HGNC:10024" - s_het: 0.005 -- hgnc_id: "HGNC:10025" - s_het: 0.074 -- hgnc_id: "HGNC:10026" - s_het: 0.003 -- hgnc_id: "HGNC:10027" - s_het: 0.003 -- hgnc_id: "HGNC:1004" - s_het: 0.004 -- hgnc_id: "HGNC:10044" - s_het: 0.006 -- hgnc_id: "HGNC:10045" - s_het: 0.00061 -- hgnc_id: "HGNC:10046" - s_het: 0.00144 -- hgnc_id: "HGNC:10047" - s_het: 0.00125 -- hgnc_id: "HGNC:10048" - s_het: 0.00173 -- hgnc_id: "HGNC:1005" - s_het: 0.014 -- hgnc_id: "HGNC:10050" - s_het: 0.007 -- hgnc_id: "HGNC:10055" - s_het: 0.00175 -- hgnc_id: "HGNC:10056" - s_het: 0.005 -- hgnc_id: "HGNC:10057" - s_het: 0.008 -- hgnc_id: "HGNC:10058" - s_het: 0.005 -- hgnc_id: "HGNC:1006" - s_het: 0.008 -- hgnc_id: "HGNC:10061" - s_het: 0.006 -- hgnc_id: "HGNC:10062" - s_het: 0.017 -- hgnc_id: "HGNC:10063" - s_het: 0.006 -- hgnc_id: "HGNC:10064" - s_het: 0.036 -- hgnc_id: "HGNC:10065" - s_het: 0.037 -- hgnc_id: "HGNC:10066" - s_het: 0.014 -- hgnc_id: "HGNC:10067" - s_het: 0.008 -- hgnc_id: "HGNC:10068" - s_het: 0.004 -- hgnc_id: "HGNC:10069" - s_het: 0.017 -- hgnc_id: "HGNC:10070" - s_het: 0.005 -- hgnc_id: "HGNC:10071" - s_het: 0.032 -- hgnc_id: "HGNC:10072" - s_het: 0.005 -- hgnc_id: "HGNC:10073" - s_het: 0.02 -- hgnc_id: "HGNC:10074" - s_het: 0.005 -- hgnc_id: "HGNC:10075" - s_het: 0.01 -- hgnc_id: "HGNC:10078" - s_het: 0.00152 -- hgnc_id: "HGNC:10079" - s_het: 0.009 -- hgnc_id: "HGNC:1008" - s_het: 0.019 -- hgnc_id: "HGNC:10080" - s_het: 0.017 -- hgnc_id: "HGNC:1012" - s_het: 0.006 -- hgnc_id: "HGNC:1014" - s_het: 0.062 -- hgnc_id: "HGNC:102" - s_het: 0.015 -- hgnc_id: "HGNC:1020" - s_het: 0.00243 -- hgnc_id: "HGNC:10241" - s_het: 0.008 -- hgnc_id: "HGNC:10249" - s_het: 0.012 -- hgnc_id: "HGNC:10251" - s_het: 0.049 -- hgnc_id: "HGNC:10252" - s_het: 0.091 -- hgnc_id: "HGNC:10253" - s_het: 0.015 -- hgnc_id: "HGNC:10254" - s_het: 0.004 -- hgnc_id: "HGNC:10256" - s_het: 0.012 -- hgnc_id: "HGNC:10257" - s_het: 0.023 -- hgnc_id: "HGNC:10258" - s_het: 0.044 -- hgnc_id: "HGNC:10259" - s_het: 0.031 -- hgnc_id: "HGNC:10263" - s_het: 0.006 -- hgnc_id: "HGNC:1027" - s_het: 0.006 -- hgnc_id: "HGNC:10274" - s_het: 0.012 -- hgnc_id: "HGNC:10288" - s_het: 0.009 -- hgnc_id: "HGNC:10289" - s_het: 0.014 -- hgnc_id: "HGNC:10290" - s_het: 0.01 -- hgnc_id: "HGNC:10291" - s_het: 0.003 -- hgnc_id: "HGNC:10293" - s_het: 0.003 -- hgnc_id: "HGNC:10294" - s_het: 0.005 -- hgnc_id: "HGNC:10295" - s_het: 0.038 -- hgnc_id: "HGNC:10296" - s_het: 0.004 -- hgnc_id: "HGNC:10297" - s_het: 0.01 -- hgnc_id: "HGNC:10298" - s_het: 0.012 -- hgnc_id: "HGNC:10299" - s_het: 0.014 -- hgnc_id: "HGNC:103" - s_het: 0.036 -- hgnc_id: "HGNC:1030" - s_het: 0.007 -- hgnc_id: "HGNC:10301" - s_het: 0.009 -- hgnc_id: "HGNC:10302" - s_het: 0.011 -- hgnc_id: "HGNC:10303" - s_het: 0.012 -- hgnc_id: "HGNC:10304" - s_het: 0.004 -- hgnc_id: "HGNC:10305" - s_het: 0.013 -- hgnc_id: "HGNC:10306" - s_het: 0.018 -- hgnc_id: "HGNC:10307" - s_het: 0.017 -- hgnc_id: "HGNC:10310" - s_het: 0.018 -- hgnc_id: "HGNC:10311" - s_het: 0.019 -- hgnc_id: "HGNC:10312" - s_het: 0.02 -- hgnc_id: "HGNC:10313" - s_het: 0.014 -- hgnc_id: "HGNC:10315" - s_het: 0.005 -- hgnc_id: "HGNC:10316" - s_het: 0.015 -- hgnc_id: "HGNC:10317" - s_het: 0.011 - diff --git a/src/genes/cli/import.rs b/src/genes/cli/import.rs index b82d59f7..1d184eee 100644 --- a/src/genes/cli/import.rs +++ b/src/genes/cli/import.rs @@ -330,22 +330,19 @@ fn load_orpha(path: &str) -> Result, anyhow::Erro /// # Result /// /// A map from HGNC ID to PanelApp gene record. -fn load_panelapp(path: &str) -> Result>, anyhow::Error> { +fn load_panelapp(path: &str) -> Result>, anyhow::Error> { info!(" loading PanelApp information from {}", path); - let mut result: HashMap> = HashMap::new(); + let mut result: HashMap> = HashMap::new(); let reader = std::fs::File::open(path).map(std::io::BufReader::new)?; for line in reader.lines() { let line = line?; - let record = serde_json::from_str::(&line)?; - if let Some(gene_data) = record.gene_data() { - if let Some(gene_data) = gene_data.as_object() { - if let Some(Some(hgnc_id)) = - gene_data.get("hgnc_id").map(|hgnc_id| hgnc_id.as_str()) - { - result.entry(hgnc_id.to_string()).or_default().push(record); - } - } + let record = serde_json::from_str::(&line)?; + if let Some(gene_data) = record.gene_data.as_ref() { + result + .entry(gene_data.hgnc_id.clone()) + .or_default() + .push(record); } } @@ -967,10 +964,7 @@ fn convert_record(record: data::Record) -> pbs::genes::base::Record { } }); - let panelapp = panelapp - .into_iter() - .map(|panelapp| todo!()) - .collect::>(); + let panelapp = panelapp.into_iter().map(|gene| todo!()).collect::>(); let rcnv = rcnv.map(|rcnv| { let rcnv::Record { @@ -1057,7 +1051,7 @@ fn write_rocksdb( ncbi_by_ncbi_id: HashMap, omim_by_hgnc_id: HashMap, orpha_by_hgnc_id: HashMap, - panelapp_by_hgnc_id: HashMap>, + panelapp_by_hgnc_id: HashMap>, rcnv_by_hgnc_id: HashMap, shet_by_hgnc_id: HashMap, gtex_by_hgnc_id: HashMap, diff --git a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap similarity index 59% rename from src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap rename to src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap index 5624544e..83f2e0c2 100644 --- a/src/genes/cli/data/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap @@ -1,36 +1,14 @@ --- -source: src/genes/cli/data/mod.rs +source: src/genes/cli/data.rs expression: records --- - gene_data: - alias: - - RNF163 - - ZCCHC22 - - CNBP1 - biotype: protein_coding hgnc_id: "HGNC:13164" - gene_name: CCHC-type zinc finger nucleic acid binding protein - omim_gene: - - "116955" - alias_name: ~ - gene_symbol: CNBP hgnc_symbol: CNBP - hgnc_release: 2017-11-03 - ensembl_genes: - GRch37: - "82": - location: "3:128888327-128902765" - ensembl_id: ENSG00000169714 - GRch38: - "90": - location: "3:129169484-129183922" - ensembl_id: ENSG00000169714 - hgnc_date_symbol_changed: 2006-06-29 entity_type: str entity_name: CNBP_CCTG confidence_level: "1" - penetrance: ~ - mode_of_pathogenicity: ~ + penetrance: unknown publications: [] evidence: - NHS GMS @@ -40,16 +18,12 @@ expression: records - "Myotonic dystrophy 2, OMIM:602668" - "Myotonic dystrophy type 2, MONDO:0011266" mode_of_inheritance: "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" - tags: - - STR - - NGS Not Validated panel: id: 229 hash_id: 55c4a3ed22c1fc0fe5e416e9 name: Skeletal Muscle Channelopathies disease_group: Neurology and neurodevelopmental disorders disease_sub_group: Channelopathies - status: public version: "1.45" version_created: "2022-03-10T17:10:13.493246Z" relevant_disorders: [] @@ -61,42 +35,13 @@ expression: records - name: Rare Disease 100K slug: rare-disease-100k description: Rare Disease 100K - transcript: ~ - gene_data: - alias: - - DMK - - DM1PK - - MDPK - - MT-PK - biotype: protein_coding hgnc_id: "HGNC:2933" - gene_name: DM1 protein kinase - omim_gene: - - "605377" - alias_name: - - dystrophia myotonica 1 - - DM protein kinase - - myotonin protein kinase A - - myotonic dystrophy associated protein kinase - - thymopoietin homolog - gene_symbol: DMPK hgnc_symbol: DMPK - hgnc_release: 2017-11-03 - ensembl_genes: - GRch37: - "82": - location: "19:46272975-46285810" - ensembl_id: ENSG00000104936 - GRch38: - "90": - location: "19:45769717-45782552" - ensembl_id: ENSG00000104936 - hgnc_date_symbol_changed: 1997-10-10 entity_type: str entity_name: DMPK_CTG confidence_level: "3" - penetrance: ~ - mode_of_pathogenicity: ~ + penetrance: unknown publications: [] evidence: - Expert Review Green @@ -105,15 +50,12 @@ expression: records phenotypes: - "Myotonic dystrophy 1, OMIM:160900" mode_of_inheritance: "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" - tags: - - STR panel: id: 229 hash_id: 55c4a3ed22c1fc0fe5e416e9 name: Skeletal Muscle Channelopathies disease_group: Neurology and neurodevelopmental disorders disease_sub_group: Channelopathies - status: public version: "1.45" version_created: "2022-03-10T17:10:13.493246Z" relevant_disorders: [] @@ -125,42 +67,13 @@ expression: records - name: Rare Disease 100K slug: rare-disease-100k description: Rare Disease 100K - transcript: ~ - gene_data: - alias: - - DMK - - DM1PK - - MDPK - - MT-PK - biotype: protein_coding hgnc_id: "HGNC:2933" - gene_name: DM1 protein kinase - omim_gene: - - "605377" - alias_name: - - dystrophia myotonica 1 - - DM protein kinase - - myotonin protein kinase A - - myotonic dystrophy associated protein kinase - - thymopoietin homolog - gene_symbol: DMPK hgnc_symbol: DMPK - hgnc_release: 2017-11-03 - ensembl_genes: - GRch37: - "82": - location: "19:46272975-46285810" - ensembl_id: ENSG00000104936 - GRch38: - "90": - location: "19:45769717-45782552" - ensembl_id: ENSG00000104936 - hgnc_date_symbol_changed: 1997-10-10 entity_type: str entity_name: DMPK_CTG confidence_level: "1" - penetrance: ~ - mode_of_pathogenicity: ~ + penetrance: unknown publications: [] evidence: - NHS GMS @@ -169,15 +82,12 @@ expression: records phenotypes: - "Myotonic dystrophy 1, OMIM:160900" mode_of_inheritance: "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" - tags: - - STR panel: id: 144 hash_id: 5763f4868f620350a199604f name: Fetal hydrops disease_group: Dysmorphic and congenital abnormality syndromes disease_sub_group: Fetal disorders - status: public version: "1.61" version_created: "2023-07-26T10:19:26.703341Z" relevant_disorders: [] @@ -189,39 +99,13 @@ expression: records - name: Rare Disease 100K slug: rare-disease-100k description: Rare Disease 100K - transcript: ~ - gene_data: - alias: - - AIS - - NR3C4 - - SMAX1 - - HUMARA - biotype: protein_coding hgnc_id: "HGNC:644" - gene_name: androgen receptor - omim_gene: - - "313700" - alias_name: - - testicular feminization - - Kennedy disease - gene_symbol: AR hgnc_symbol: AR - hgnc_release: 2017-11-03 - ensembl_genes: - GRch37: - "82": - location: "X:66764465-66950461" - ensembl_id: ENSG00000169083 - GRch38: - "90": - location: "X:67544032-67730619" - ensembl_id: ENSG00000169083 - hgnc_date_symbol_changed: 1986-01-01 entity_type: str entity_name: AR_CAG confidence_level: "3" - penetrance: ~ - mode_of_pathogenicity: ~ + penetrance: unknown publications: [] evidence: - Expert Review Green @@ -230,15 +114,12 @@ expression: records phenotypes: - "Spinal and bulbar muscular atrophy of Kennedy, OMIM:313200" mode_of_inheritance: "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)" - tags: - - STR panel: id: 235 hash_id: 55b7a0bb22c1fc05fd2345d1 name: Distal myopathies disease_group: Neurology and neurodevelopmental disorders disease_sub_group: Neuromuscular disorders - status: public version: "3.16" version_created: "2023-10-25T21:25:56.162797Z" relevant_disorders: [] @@ -256,36 +137,13 @@ expression: records - name: GMS signed-off slug: gms-signed-off description: This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS. - transcript: ~ - gene_data: - alias: - - RNF163 - - ZCCHC22 - - CNBP1 - biotype: protein_coding hgnc_id: "HGNC:13164" - gene_name: CCHC-type zinc finger nucleic acid binding protein - omim_gene: - - "116955" - alias_name: ~ - gene_symbol: CNBP hgnc_symbol: CNBP - hgnc_release: 2017-11-03 - ensembl_genes: - GRch37: - "82": - location: "3:128888327-128902765" - ensembl_id: ENSG00000169714 - GRch38: - "90": - location: "3:129169484-129183922" - ensembl_id: ENSG00000169714 - hgnc_date_symbol_changed: 2006-06-29 entity_type: str entity_name: CNBP_CCTG confidence_level: "1" - penetrance: ~ - mode_of_pathogenicity: ~ + penetrance: unknown publications: [] evidence: - NHS GMS @@ -295,16 +153,12 @@ expression: records - "Myotonic dystrophy 2, OMIM:602668" - "Myotonic dystrophy type 2, MONDO:0011266" mode_of_inheritance: "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted" - tags: - - STR - - NGS Not Validated panel: id: 235 hash_id: 55b7a0bb22c1fc05fd2345d1 name: Distal myopathies disease_group: Neurology and neurodevelopmental disorders disease_sub_group: Neuromuscular disorders - status: public version: "3.16" version_created: "2023-10-25T21:25:56.162797Z" relevant_disorders: [] @@ -322,5 +176,4 @@ expression: records - name: GMS signed-off slug: gms-signed-off description: This panel has undergone review by a NHSE GMS disease specialist group and processes to be signed-off for use within the GMS. - transcript: ~ diff --git a/src/pbs/panelapp.rs b/src/pbs/panelapp.rs index 5a800347..ca0b0d2a 100644 --- a/src/pbs/panelapp.rs +++ b/src/pbs/panelapp.rs @@ -1,8 +1,5 @@ #![allow(missing_docs)] //! Code generate for protobufs by `prost-build`. -include!(concat!(env!("OUT_DIR"), "/annonars.panelapp.models.rs")); -include!(concat!( - env!("OUT_DIR"), - "/annonars.panelapp.models.serde.rs" -)); +include!(concat!(env!("OUT_DIR"), "/annonars.panelapp.rs")); +include!(concat!(env!("OUT_DIR"), "/annonars.panelapp.serde.rs")); From c6bbdcc0bc1e42e85c6b47f93457a88fd3f8837b Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 12:28:19 +0100 Subject: [PATCH 08/10] wip --- build.rs | 1 - openapis/panelapp.json | 1876 -- protos/annonars/genes/base.proto | 118 +- protos/annonars/panelapp/models.proto | 258 - src/genes/cli/data.rs | 156 +- src/genes/cli/import.rs | 31 +- ...ta__tests__deserialize_acmg_sf_record.snap | 16189 +++++++++ ...ta__tests__deserialize_clingen_record.snap | 355 + ...ata__tests__deserialize_dbnsfp_record.snap | 302 + ...tests__deserialize_decipher_hi_record.snap | 85 + ...ata__tests__deserialize_domino_record.snap | 43 + ...s__deserialize_gnomad_constraints@2.1.snap | 80 + ...s__deserialize_gnomad_constraints@4.0.snap | 194 + ..._data__tests__deserialize_gtex_record.snap | 27909 ++++++++++++++++ ..._data__tests__deserialize_hgnc_record.snap | 154 + ..._data__tests__deserialize_ncbi_record.snap | 38 + ..._data__tests__deserialize_omim_record.snap | 32 + ...a__tests__deserialize_panelapp_record.snap | 5 + ..._data__tests__deserialize_rcnv_record.snap | 302 + ..._data__tests__deserialize_shet_record.snap | 203 + 20 files changed, 46181 insertions(+), 2150 deletions(-) delete mode 100644 openapis/panelapp.json delete mode 100644 protos/annonars/panelapp/models.proto create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap create mode 100644 src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap diff --git a/build.rs b/build.rs index 9d1f7cdd..1c30e607 100644 --- a/build.rs +++ b/build.rs @@ -27,7 +27,6 @@ fn main() -> Result<(), anyhow::Error> { "annonars/gnomad/vep_gnomad4.proto", "annonars/helixmtdb/base.proto", "annonars/regions/clingen.proto", - "annonars/panelapp/models.proto", ] .iter() .map(|f| root.join(f)) diff --git a/openapis/panelapp.json b/openapis/panelapp.json deleted file mode 100644 index 789cb597..00000000 --- a/openapis/panelapp.json +++ /dev/null @@ -1,1876 +0,0 @@ -{ - "swagger": "2.0", - "info": { - "title": "PanelApp API", - "description": "PanelApp API", - "termsOfService": "https://panelapp.genomicsengland.co.uk/policies/terms/", - "contact": { - "email": "panelapp@genomicsengland.co.uk" - }, - "version": "v1" - }, - "host": "panelapp.genomicsengland.co.uk", - "schemes": [ - "https" - ], - "basePath": "/api/v1", - "consumes": [ - "application/json" - ], - "produces": [ - "application/json" - ], - "securityDefinitions": { - "api_key": { - "type": "apiKey", - "in": "header", - "name": "Authorization", - "description": "Format: \"Token your token\". You can find API token in your profile page" - } - }, - "security": [ - { - "api_key": [] - } - ], - "paths": { - "/activities/": { - "get": { - "operationId": "activities_list", - "description": "", - "parameters": [ - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Activity" - } - } - } - } - } - }, - "tags": [ - "activities" - ] - }, - "parameters": [] - }, - "/entities/": { - "get": { - "operationId": "entities_list", - "description": "Search Entities", - "parameters": [ - { - "name": "type", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "tags", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "entity_name", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "type": "string" - } - } - } - } - } - }, - "tags": [ - "entities" - ] - }, - "parameters": [] - }, - "/entities/{entity_name}/": { - "get": { - "operationId": "entities_read", - "description": "Search Entities", - "parameters": [], - "responses": { - "200": { - "description": "", - "schema": { - "type": "string" - } - } - }, - "tags": [ - "entities" - ] - }, - "parameters": [ - { - "name": "entity_name", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/genes/": { - "get": { - "operationId": "genes_list", - "description": "Search Genes", - "parameters": [ - { - "name": "type", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "tags", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "entity_name", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Gene" - } - } - } - } - } - }, - "tags": [ - "genes" - ] - }, - "parameters": [] - }, - "/genes/{entity_name}/": { - "get": { - "operationId": "genes_read", - "description": "Search Genes", - "parameters": [], - "responses": { - "200": { - "description": "", - "schema": { - "$ref": "#/definitions/Gene" - } - } - }, - "tags": [ - "genes" - ] - }, - "parameters": [ - { - "name": "entity_name", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/": { - "get": { - "operationId": "panels_list", - "description": "", - "parameters": [ - { - "name": "type", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Panel" - } - } - } - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [] - }, - "/panels/signedoff/": { - "get": { - "operationId": "panels_signedoff_list", - "summary": "Signed Off Panels Versions", - "description": "By default only the latest versions on public panels are returned.\n\nTo get all public and retired panels use `display=all` URL parameter.\nThis also returns previous versions for the panels.\n\nYou can also filter by `panel_id` to return only the versions for a\nspecific panel. To get all versions for a panel use both `display=all`\nand `panel_id` together.", - "parameters": [ - { - "name": "panel_id", - "in": "query", - "description": "", - "required": false, - "type": "string" - }, - { - "name": "display", - "in": "query", - "description": "", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/HistoricalSnapshot" - } - } - } - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [] - }, - "/panels/signedoff/{id}/": { - "get": { - "operationId": "panels_signedoff_read", - "summary": "!!! Deprecated - see notes", - "description": "Instead, use list of signed off panels endpoint with `panel_id=`\nparameter to get the latest version, and then use\n`/api/v1/panels//?version=.` to get\nthe panel data.\n\nThis endpoint will be removed in the second part of 2021.", - "parameters": [], - "responses": { - "200": { - "description": "", - "schema": { - "$ref": "#/definitions/HistoricalSnapshot" - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "id", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{id}/": { - "get": { - "operationId": "panels_read", - "summary": "Get individual Panel data", - "description": "In addition to the model fields this endpoint also returns `genes`, `strs`, `regions` associated with this panel.\n\nAdditional parameters:\n\n?version=1.1 - get a specific version for this panel", - "parameters": [], - "responses": { - "200": { - "description": "", - "schema": { - "$ref": "#/definitions/Panel" - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "id", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{id}/activities/": { - "get": { - "operationId": "panels_activities", - "description": "", - "parameters": [], - "responses": { - "200": { - "description": "", - "schema": { - "$ref": "#/definitions/Panel" - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "id", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{id}/versions/": { - "get": { - "operationId": "panels_versions", - "description": "", - "parameters": [], - "responses": { - "200": { - "description": "", - "schema": { - "$ref": "#/definitions/Panel" - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "id", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{panel_pk}/genes/": { - "get": { - "operationId": "panels_genes_list", - "description": "", - "parameters": [ - { - "name": "entity_name", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "confidence_level", - "in": "query", - "description": "Filter by confidence level: 0, 1, 2, 3", - "required": false, - "type": "string" - }, - { - "name": "version", - "in": "query", - "description": "Panel version", - "required": false, - "type": "string" - }, - { - "name": "tags", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Gene" - } - } - } - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "panel_pk", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{panel_pk}/genes/{gene_entity_name}/evaluations/": { - "get": { - "operationId": "panels_genes_evaluations_list", - "description": "", - "parameters": [ - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Evaluation" - } - } - } - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "gene_entity_name", - "in": "path", - "required": true, - "type": "string" - }, - { - "name": "panel_pk", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{panel_pk}/regions/": { - "get": { - "operationId": "panels_regions_list", - "description": "", - "parameters": [ - { - "name": "entity_name", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "confidence_level", - "in": "query", - "description": "Filter by confidence level: 0, 1, 2, 3", - "required": false, - "type": "string" - }, - { - "name": "version", - "in": "query", - "description": "Panel version", - "required": false, - "type": "string" - }, - { - "name": "tags", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Region" - } - } - } - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "panel_pk", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{panel_pk}/regions/{region_entity_name}/evaluations/": { - "get": { - "operationId": "panels_regions_evaluations_list", - "description": "", - "parameters": [ - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Evaluation" - } - } - } - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "panel_pk", - "in": "path", - "required": true, - "type": "string" - }, - { - "name": "region_entity_name", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{panel_pk}/strs/": { - "get": { - "operationId": "panels_strs_list", - "description": "", - "parameters": [ - { - "name": "entity_name", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "confidence_level", - "in": "query", - "description": "Filter by confidence level: 0, 1, 2, 3", - "required": false, - "type": "string" - }, - { - "name": "version", - "in": "query", - "description": "Panel version", - "required": false, - "type": "string" - }, - { - "name": "tags", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/STR" - } - } - } - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "panel_pk", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/panels/{panel_pk}/strs/{str_entity_name}/evaluations/": { - "get": { - "operationId": "panels_strs_evaluations_list", - "description": "", - "parameters": [ - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Evaluation" - } - } - } - } - } - }, - "tags": [ - "panels" - ] - }, - "parameters": [ - { - "name": "panel_pk", - "in": "path", - "required": true, - "type": "string" - }, - { - "name": "str_entity_name", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/regions/": { - "get": { - "operationId": "regions_list", - "description": "Search Regions", - "parameters": [ - { - "name": "type", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "tags", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "entity_name", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/Region" - } - } - } - } - } - }, - "tags": [ - "regions" - ] - }, - "parameters": [] - }, - "/regions/{entity_name}/": { - "get": { - "operationId": "regions_read", - "description": "Search Regions", - "parameters": [], - "responses": { - "200": { - "description": "", - "schema": { - "$ref": "#/definitions/Region" - } - } - }, - "tags": [ - "regions" - ] - }, - "parameters": [ - { - "name": "entity_name", - "in": "path", - "required": true, - "type": "string" - } - ] - }, - "/strs/": { - "get": { - "operationId": "strs_list", - "description": "Search STRs", - "parameters": [ - { - "name": "type", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "tags", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "entity_name", - "in": "query", - "description": "Multiple values may be separated by commas.", - "required": false, - "type": "string" - }, - { - "name": "page", - "in": "query", - "description": "A page number within the paginated result set.", - "required": false, - "type": "integer" - } - ], - "responses": { - "200": { - "description": "", - "schema": { - "required": [ - "count", - "results" - ], - "type": "object", - "properties": { - "count": { - "type": "integer" - }, - "next": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "previous": { - "type": "string", - "format": "uri", - "x-nullable": true - }, - "results": { - "type": "array", - "items": { - "$ref": "#/definitions/STR" - } - } - } - } - } - }, - "tags": [ - "strs" - ] - }, - "parameters": [] - }, - "/strs/{entity_name}/": { - "get": { - "operationId": "strs_read", - "description": "Search STRs", - "parameters": [], - "responses": { - "200": { - "description": "", - "schema": { - "$ref": "#/definitions/STR" - } - } - }, - "tags": [ - "strs" - ] - }, - "parameters": [ - { - "name": "entity_name", - "in": "path", - "required": true, - "type": "string" - } - ] - } - }, - "definitions": { - "Activity": { - "required": [ - "text" - ], - "type": "object", - "properties": { - "created": { - "title": "Created", - "type": "string", - "format": "date-time", - "readOnly": true - }, - "panel_name": { - "title": "Panel name", - "type": "string", - "readOnly": true - }, - "panel_id": { - "title": "Panel id", - "type": "string", - "readOnly": true - }, - "panel_version": { - "title": "Panel version", - "type": "string", - "readOnly": true - }, - "user_name": { - "title": "User name", - "type": "string", - "readOnly": true - }, - "item_type": { - "title": "Item type", - "type": "string", - "maxLength": 32, - "minLength": 1, - "x-nullable": true - }, - "text": { - "title": "Text", - "type": "string", - "minLength": 1 - }, - "entity_name": { - "title": "Entity name", - "type": "string", - "maxLength": 128, - "minLength": 1, - "x-nullable": true - }, - "entity_type": { - "title": "Entity type", - "type": "string", - "maxLength": 32, - "minLength": 1, - "x-nullable": true - } - } - }, - "PanelType": { - "required": [ - "name", - "description" - ], - "type": "object", - "properties": { - "name": { - "title": "Name", - "type": "string", - "maxLength": 128, - "minLength": 1 - }, - "slug": { - "title": "Slug", - "type": "string", - "format": "slug", - "pattern": "^[-a-zA-Z0-9_]+$", - "readOnly": true, - "minLength": 1 - }, - "description": { - "title": "Description", - "type": "string", - "minLength": 1 - } - } - }, - "Panel": { - "required": [ - "id", - "relevant_disorders" - ], - "type": "object", - "properties": { - "id": { - "title": "Id", - "type": "integer" - }, - "hash_id": { - "title": "Hash id", - "type": "string", - "readOnly": true - }, - "name": { - "title": "Name", - "type": "string", - "readOnly": true - }, - "disease_group": { - "title": "Disease group", - "type": "string", - "readOnly": true - }, - "disease_sub_group": { - "title": "Disease sub group", - "type": "string", - "readOnly": true - }, - "status": { - "title": "Status", - "type": "string", - "readOnly": true - }, - "version": { - "title": "Version", - "type": "string", - "readOnly": true, - "minLength": 1 - }, - "version_created": { - "title": "Version created", - "type": "string", - "format": "date-time", - "readOnly": true - }, - "relevant_disorders": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "stats": { - "title": "Stats", - "description": "Object with panel statistics (number of genes or STRs)", - "type": "object", - "readOnly": true - }, - "types": { - "type": "array", - "items": { - "$ref": "#/definitions/PanelType" - }, - "readOnly": true - } - }, - "x-nullable": true - }, - "Gene": { - "required": [ - "entity_type", - "entity_name", - "confidence_level", - "publications", - "evidence", - "phenotypes", - "mode_of_inheritance", - "transcript" - ], - "type": "object", - "properties": { - "gene_data": { - "title": "Gene data", - "type": "object", - "readOnly": true - }, - "entity_type": { - "title": "Entity type", - "type": "string", - "minLength": 1 - }, - "entity_name": { - "title": "Entity name", - "type": "string", - "minLength": 1 - }, - "confidence_level": { - "title": "Confidence level", - "type": "string", - "minLength": 1 - }, - "penetrance": { - "title": "Penetrance", - "type": "string", - "enum": [ - "unknown", - "Complete", - "Incomplete" - ], - "x-nullable": true - }, - "mode_of_pathogenicity": { - "title": "Mode of pathogenicity", - "type": "string", - "enum": [ - "", - "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", - "Other" - ], - "x-nullable": true - }, - "publications": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "evidence": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "phenotypes": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "mode_of_inheritance": { - "title": "Mode of inheritance", - "type": "string", - "minLength": 1 - }, - "tags": { - "type": "array", - "items": { - "type": "string" - }, - "readOnly": true, - "uniqueItems": true - }, - "panel": { - "$ref": "#/definitions/Panel" - }, - "transcript": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - } - } - }, - "HistoricalSnapshot": { - "required": [ - "data" - ], - "type": "object", - "properties": { - "data": { - "title": "Data", - "type": "object" - }, - "signed_off_date": { - "title": "Signed off date", - "type": "string", - "format": "date", - "x-nullable": true - } - } - }, - "Evaluation": { - "type": "object", - "properties": { - "created": { - "title": "Created", - "type": "string", - "format": "date-time", - "readOnly": true - }, - "rating": { - "title": "Rating", - "type": "string", - "enum": [ - "GREEN", - "RED", - "AMBER" - ] - }, - "mode_of_pathogenicity": { - "title": "Mode of pathogenicity", - "type": "string", - "enum": [ - "", - "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", - "Other" - ], - "x-nullable": true - }, - "publications": { - "type": "array", - "items": { - "title": "Publications", - "type": "string", - "minLength": 1 - }, - "x-nullable": true - }, - "phenotypes": { - "type": "array", - "items": { - "title": "Phenotypes", - "type": "string", - "minLength": 1 - }, - "x-nullable": true - }, - "moi": { - "title": "Mode of Inheritance", - "type": "string", - "enum": [ - "", - "MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted", - "MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)", - "MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)", - "MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown", - "BIALLELIC, autosomal or pseudoautosomal", - "BOTH monoallelic and biallelic, autosomal or pseudoautosomal", - "BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal", - "X-LINKED: hemizygous mutation in males, biallelic mutations in females", - "X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)", - "MITOCHONDRIAL", - "Unknown", - "Other" - ], - "x-nullable": true - }, - "current_diagnostic": { - "title": "Current diagnostic", - "type": "boolean" - }, - "clinically_relevant": { - "title": "Clinically relevant", - "description": "Interruptions in the repeated sequence are reported as part of standard diagnostic practise", - "type": "boolean", - "x-nullable": true - } - } - }, - "Region": { - "required": [ - "entity_type", - "entity_name", - "confidence_level", - "required_overlap_percentage", - "publications", - "evidence", - "phenotypes", - "mode_of_inheritance", - "chromosome", - "grch37_coordinates", - "grch38_coordinates" - ], - "type": "object", - "properties": { - "gene_data": { - "title": "Gene data", - "type": "object", - "readOnly": true - }, - "entity_type": { - "title": "Entity type", - "type": "string", - "minLength": 1 - }, - "entity_name": { - "title": "Entity name", - "type": "string", - "minLength": 1 - }, - "verbose_name": { - "title": "Verbose name", - "description": "Region Name", - "type": "string", - "maxLength": 256, - "x-nullable": true - }, - "confidence_level": { - "title": "Confidence level", - "type": "string", - "minLength": 1 - }, - "penetrance": { - "title": "Penetrance", - "type": "string", - "enum": [ - "unknown", - "Complete", - "Incomplete" - ], - "x-nullable": true - }, - "mode_of_pathogenicity": { - "title": "Mode of pathogenicity", - "type": "string", - "enum": [ - "", - "Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments", - "Other" - ], - "x-nullable": true - }, - "haploinsufficiency_score": { - "title": "Haploinsufficiency score", - "type": "string", - "enum": [ - "", - "3", - "2", - "1", - "0", - "40", - "30" - ], - "x-nullable": true - }, - "triplosensitivity_score": { - "title": "Triplosensitivity score", - "type": "string", - "enum": [ - "", - "3", - "2", - "1", - "0", - "40", - "30" - ], - "x-nullable": true - }, - "required_overlap_percentage": { - "title": "Required overlap percentage", - "description": "Required percent of overlap", - "type": "integer", - "maximum": 100, - "minimum": 0 - }, - "type_of_variants": { - "title": "Variation type", - "type": "string", - "enum": [ - "small", - "cnv_loss", - "cnv_gain", - "cnv_both" - ] - }, - "publications": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "evidence": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "phenotypes": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "mode_of_inheritance": { - "title": "Mode of inheritance", - "type": "string", - "minLength": 1 - }, - "chromosome": { - "title": "Chromosome", - "type": "string", - "enum": [ - "1", - "2", - "3", - "4", - "5", - "6", - "7", - "8", - "9", - "10", - "11", - "12", - "13", - "14", - "15", - "16", - "17", - "18", - "19", - "20", - "21", - "22", - "X", - "Y" - ] - }, - "grch37_coordinates": { - "type": "array", - "items": { - "type": "integer" - }, - "maxItems": 2, - "minItems": 2 - }, - "grch38_coordinates": { - "type": "array", - "items": { - "type": "integer" - }, - "maxItems": 2, - "minItems": 2 - }, - "tags": { - "type": "array", - "items": { - "type": "string" - }, - "readOnly": true, - "uniqueItems": true - }, - "panel": { - "$ref": "#/definitions/Panel" - } - } - }, - "STR": { - "required": [ - "entity_type", - "entity_name", - "confidence_level", - "publications", - "evidence", - "phenotypes", - "mode_of_inheritance", - "repeated_sequence", - "chromosome", - "grch37_coordinates", - "grch38_coordinates", - "normal_repeats", - "pathogenic_repeats" - ], - "type": "object", - "properties": { - "gene_data": { - "title": "Gene data", - "type": "object", - "readOnly": true - }, - "entity_type": { - "title": "Entity type", - "type": "string", - "minLength": 1 - }, - "entity_name": { - "title": "Entity name", - "type": "string", - "minLength": 1 - }, - "confidence_level": { - "title": "Confidence level", - "type": "string", - "minLength": 1 - }, - "penetrance": { - "title": "Penetrance", - "type": "string", - "enum": [ - "unknown", - "Complete", - "Incomplete" - ], - "x-nullable": true - }, - "publications": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "evidence": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "phenotypes": { - "type": "array", - "items": { - "type": "string", - "x-nullable": true - } - }, - "mode_of_inheritance": { - "title": "Mode of inheritance", - "type": "string", - "minLength": 1 - }, - "repeated_sequence": { - "title": "Repeated sequence", - "type": "string", - "maxLength": 128, - "minLength": 1 - }, - "chromosome": { - "title": "Chromosome", - "type": "string", - "enum": [ - "1", - "2", - "3", - "4", - "5", - "6", - "7", - "8", - "9", - "10", - "11", - "12", - "13", - "14", - "15", - "16", - "17", - "18", - "19", - "20", - "21", - "22", - "X", - "Y" - ] - }, - "grch37_coordinates": { - "type": "array", - "items": { - "type": "integer" - }, - "maxItems": 2, - "minItems": 2 - }, - "grch38_coordinates": { - "type": "array", - "items": { - "type": "integer" - }, - "maxItems": 2, - "minItems": 2 - }, - "normal_repeats": { - "title": "Normal", - "description": "=< Maximum normal number of repeats", - "type": "integer", - "maximum": 2147483647, - "minimum": -2147483648 - }, - "pathogenic_repeats": { - "title": "Pathogenic", - "description": ">= Minimum fully penetrant pathogenic number of repeats", - "type": "integer", - "maximum": 2147483647, - "minimum": -2147483648 - }, - "tags": { - "type": "array", - "items": { - "type": "string" - }, - "readOnly": true, - "uniqueItems": true - }, - "panel": { - "$ref": "#/definitions/Panel" - } - } - } - } -} diff --git a/protos/annonars/genes/base.proto b/protos/annonars/genes/base.proto index 842d3184..7dc30c38 100644 --- a/protos/annonars/genes/base.proto +++ b/protos/annonars/genes/base.proto @@ -2,8 +2,6 @@ syntax = "proto3"; package annonars.genes.base; -import "annonars/panelapp/models.proto"; - // Information from ACMG secondary findings list. message AcmgSecondaryFindingRecord { // The HGNC ID. @@ -816,6 +814,120 @@ message GtexRecord { repeated GtexTissueRecord records = 4; } +// Entry in PanelApp. +message PanelAppRecord { + /// Gene identity information. + message GeneData { + // HGNC ID. + optional string hgnc_id = 1; + // HGNC gene symbol. + optional string hgnc_symbol = 2; + // Gene symbol. + optional string gene_symbol = 3; + } + + // Enumeration for entity types. + enum EntityType { + // Unknown + ENTITY_TYPE_UNKNOWN = 0; + // Gene + ENTITY_TYPE_GENE = 1; + // Short Tandem Repeat + ENTITY_TYPE_STR = 2; + // Region + ENTITY_TYPE_REGION = 3; + } + + // Enumeration for confidence levels. + enum ConfidenceLevel { + // Unknown + CONFIDENCE_LEVEL_UNKNOWN = 0; + // None + CONFIDENCE_LEVEL_NONE = 1; + // Red + CONFIDENCE_LEVEL_RED = 2; + // Amber + CONFIDENCE_LEVEL_AMBER = 3; + // Green + CONFIDENCE_LEVEL_GREEN = 4; + } + + // Enumeration for penetrance. + enum Penetrance { + // Unknown + PENETRANCE_UNKNOWN = 0; + // Complete + PENETRANCE_COMPLETE = 1; + // Incomplete + PENETRANCE_INCOMPLETE = 2; + } + + // Message for panel statistics. + message PanelStats { + // Number of genes. + uint32 number_of_genes = 1; + // Number of STRs. + uint32 number_of_strs = 2; + // Number of regions. + uint32 number_of_regions = 3; + } + + // Message for panel types. + message PanelType { + // Type name. + string name = 1; + // Slug. + string slug = 2; + // Description. + string description = 3; + } + + // Message for panel information. + message Panel { + // Panel ID. + uint32 id = 1; + // Panel hash ID. + optional string hash_id = 2; + // Panel name. + string name = 3; + // Disease group. + string disease_group = 4; + // Disease subgroup. + string disease_sub_group = 5; + // Version + string version = 6; + // Creation date of version. + string version_created = 7; + // Relevant disorders. + repeated string relevant_disorders = 8; + // Stats. + PanelStats stats = 9; + // Panel types. + repeated PanelType types = 10; + } + + // Gene identity information. + GeneData gene_data = 1; + // Entity type. + EntityType entity_type = 2; + // Entity name. + string entity_name = 3; + // Confidence level. + ConfidenceLevel confidence_level = 4; + // Penetrance. + Penetrance penetrance = 5; + // Publications. + repeated string publications = 6; + // Evidence. + repeated string evidence = 7; + // Phenotypes. + repeated string phenotypes = 8; + // Mode of inheritance. + string mode_of_inheritance = 9; + // Panel. + Panel panel = 10; +} + // Entry in the genes RocksDB database. message Record { // Information from the ACMG secondary finding list. @@ -845,5 +957,5 @@ message Record { // DECIPHER HI score. DecipherHiRecord decipher_hi = 13; // GenomicsEngland PanelApp gene information. - repeated annonars.panelapp.Gene panelapp = 14; + repeated PanelAppRecord panelapp = 14; } diff --git a/protos/annonars/panelapp/models.proto b/protos/annonars/panelapp/models.proto deleted file mode 100644 index 7f35e2a5..00000000 --- a/protos/annonars/panelapp/models.proto +++ /dev/null @@ -1,258 +0,0 @@ -// Protobuf definition file generated by `openapi2proto`. -// -// The file was then post-edited to include a dummy value for enum values 0. -// -// Also, `GeneData` was partially completed. - -syntax = "proto3"; - -package annonars.panelapp; - -message Activity { - string created = 1; - string entity_name = 2; - string entity_type = 3; - string item_type = 4; - string panel_id = 5; - string panel_name = 6; - string panel_version = 7; - string text = 8; - string user_name = 9; -} - -enum ModeOfPathogenicity { - MODE_OF_PATHOGENICITY = 0; - MODE_OF_PATHOGENICITY_SEE_COMMENTS_FOR_LOF = 1; - MODE_OF_PATHOGENICITY_OTHER = 2; -} - -message Evaluation { - enum EvaluationMoi { - EVALUATION_MOI = 0; - EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_NOT_IMPRINTED = 1; - EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_MATERNALLY_IMPRINTED_PATERNAL_ALLELE_EXPRESSED = 2; - EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_PATERNALLY_IMPRINTED_MATERNAL_ALLELE_EXPRESSED = 3; - EVALUATION_MOI_MONOALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL_IMPRINTED_STATUS_UNKNOWN = 4; - EVALUATION_MOI_BIALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL = 5; - EVALUATION_MOI_BOTH_MONOALLELIC_AND_BIALLELIC_AUTOSOMAL_OR_PSEUDOAUTOSOMAL = 6; - EVALUATION_MOI_BOTH_MONOALLELIC_AND_BIALLELIC_BUT_BIALLELIC_MUTATIONS_CAUSE_A_MORE_SEVERE_DISEASE_FORM_AUTOSOMAL_OR_PSEUDOAUTOSOMAL = 7; - EVALUATION_MOI_X_LINKED_HEMIZYGOUS_MUTATION_IN_MALES_BIALLELIC_MUTATIONS_IN_FEMALES = 8; - EVALUATION_MOI_X_LINKED_HEMIZYGOUS_MUTATION_IN_MALES_MONOALLELIC_MUTATIONS_IN_FEMALES_MAY_CAUSE_DISEASE_MAY_BE_LESS_SEVERE_LATER_ONSET_THAN_MALES = 9; - EVALUATION_MOI_MITOCHONDRIAL = 10; - EVALUATION_MOI_UNKNOWN = 11; - EVALUATION_MOI_OTHER = 12; - } - - enum EvaluationRating { - EVALUATION_RATING = 0; - EVALUATION_RATING_GREEN = 1; - EVALUATION_RATING_RED = 2; - EVALUATION_RATING_AMBER = 3; - } - - // Interruptions in the repeated sequence are reported as part of standard diagnostic practise - bool clinically_relevant = 1; - string created = 2; - bool current_diagnostic = 3; - ModeOfPathogenicity mode_of_pathogenicity = 4; - EvaluationMoi moi = 5; - repeated string phenotypes = 6; - repeated string publications = 7; - EvaluationRating rating = 8; -} - -message GeneData { - optional string hgnc_id = 1; - optional string gene_name = 2; - repeated string alias = 3; - optional string gene_symbol = 4; - optional string hgnc_symbol = 5; -} - -enum Penetrance { - PENETRANCE_UNKNOWN = 0; - PENETRANCE_COMPLETE = 1; - PENETRANCE_INCOMPLETE = 2; -} - -message Gene { - string confidence_level = 1; - string entity_name = 2; - string entity_type = 3; - repeated string evidence = 4; - GeneData gene_data = 5; - string mode_of_inheritance = 6; - ModeOfPathogenicity mode_of_pathogenicity = 7; - Panel panel = 8; - Penetrance penetrance = 9; - repeated string phenotypes = 10; - repeated string publications = 11; - repeated string tags = 12; - repeated string transcript = 13; -} - -message HistoricalSnapshot { - message DataMessage {} - - DataMessage data = 1; - string signed_off_date = 2; -} - -message Panel { - message StatsMessage {} - - string disease_group = 1; - string disease_sub_group = 2; - string hash_id = 3; - int32 id = 4; - string name = 5; - repeated string relevant_disorders = 6; - - // Object with panel statistics (number of genes or STRs) - StatsMessage stats = 7; - string status = 8; - repeated PanelType types = 9; - string version = 10; - string version_created = 11; -} - -message PanelType { - string description = 1; - string name = 2; - string slug = 3; -} - -message Region { - enum RegionChromosome { - REGION_CHROMOSOME_UNKNOWN = 0; - REGION_CHROMOSOME_1 = 1; - REGION_CHROMOSOME_2 = 2; - REGION_CHROMOSOME_3 = 3; - REGION_CHROMOSOME_4 = 4; - REGION_CHROMOSOME_5 = 5; - REGION_CHROMOSOME_6 = 6; - REGION_CHROMOSOME_7 = 7; - REGION_CHROMOSOME_8 = 8; - REGION_CHROMOSOME_9 = 9; - REGION_CHROMOSOME_10 = 10; - REGION_CHROMOSOME_11 = 11; - REGION_CHROMOSOME_12 = 12; - REGION_CHROMOSOME_13 = 13; - REGION_CHROMOSOME_14 = 14; - REGION_CHROMOSOME_15 = 15; - REGION_CHROMOSOME_16 = 16; - REGION_CHROMOSOME_17 = 17; - REGION_CHROMOSOME_18 = 18; - REGION_CHROMOSOME_19 = 19; - REGION_CHROMOSOME_20 = 20; - REGION_CHROMOSOME_21 = 21; - REGION_CHROMOSOME_22 = 22; - REGION_CHROMOSOME_X = 23; - REGION_CHROMOSOME_Y = 24; - } - - enum RegionHaploinsufficiencyScore { - REGION_HAPLOINSUFFICIENCY_SCORE_UNKNOWN = 0; - REGION_HAPLOINSUFFICIENCY_SCORE_3 = 1; - REGION_HAPLOINSUFFICIENCY_SCORE_2 = 2; - REGION_HAPLOINSUFFICIENCY_SCORE_1 = 3; - REGION_HAPLOINSUFFICIENCY_SCORE_0 = 4; - REGION_HAPLOINSUFFICIENCY_SCORE_40 = 5; - REGION_HAPLOINSUFFICIENCY_SCORE_30 = 6; - } - - enum RegionTriplosensitivityScore { - REGION_TRIPLOSENSITIVITY_SCORE_UNKNOWN = 0; - REGION_TRIPLOSENSITIVITY_SCORE_3 = 1; - REGION_TRIPLOSENSITIVITY_SCORE_2 = 2; - REGION_TRIPLOSENSITIVITY_SCORE_1 = 3; - REGION_TRIPLOSENSITIVITY_SCORE_0 = 4; - REGION_TRIPLOSENSITIVITY_SCORE_40 = 5; - REGION_TRIPLOSENSITIVITY_SCORE_30 = 6; - } - - enum RegionTypeOfVariants { - REGION_TYPE_OF_VARIANTS_UNKNOWN = 0; - REGION_TYPE_OF_VARIANTS_SMALL = 1; - REGION_TYPE_OF_VARIANTS_CNV_LOSS = 2; - REGION_TYPE_OF_VARIANTS_CNV_GAIN = 3; - REGION_TYPE_OF_VARIANTS_CNV_BOTH = 4; - } - - RegionChromosome chromosome = 1; - string confidence_level = 2; - string entity_name = 3; - string entity_type = 4; - repeated string evidence = 5; - GeneData gene_data = 6; - repeated int32 grch37_coordinates = 7; - repeated int32 grch38_coordinates = 8; - RegionHaploinsufficiencyScore haploinsufficiency_score = 9; - string mode_of_inheritance = 10; - ModeOfPathogenicity mode_of_pathogenicity = 11; - Panel panel = 12; - Penetrance penetrance = 13; - repeated string phenotypes = 14; - repeated string publications = 15; - - // Required percent of overlap - int32 required_overlap_percentage = 16; - repeated string tags = 17; - RegionTriplosensitivityScore triplosensitivity_score = 18; - RegionTypeOfVariants type_of_variants = 19; - - // Region Name - string verbose_name = 20; -} - -message STR { - enum STRChromosome { - STR_CHROMOSOME_UNKNOWN = 0; - STR_CHROMOSOME_1 = 1; - STR_CHROMOSOME_2 = 2; - STR_CHROMOSOME_3 = 3; - STR_CHROMOSOME_4 = 4; - STR_CHROMOSOME_5 = 5; - STR_CHROMOSOME_6 = 6; - STR_CHROMOSOME_7 = 7; - STR_CHROMOSOME_8 = 8; - STR_CHROMOSOME_9 = 9; - STR_CHROMOSOME_10 = 10; - STR_CHROMOSOME_11 = 11; - STR_CHROMOSOME_12 = 12; - STR_CHROMOSOME_13 = 13; - STR_CHROMOSOME_14 = 14; - STR_CHROMOSOME_15 = 15; - STR_CHROMOSOME_16 = 16; - STR_CHROMOSOME_17 = 17; - STR_CHROMOSOME_18 = 18; - STR_CHROMOSOME_19 = 19; - STR_CHROMOSOME_20 = 20; - STR_CHROMOSOME_21 = 21; - STR_CHROMOSOME_22 = 22; - STR_CHROMOSOME_X = 23; - STR_CHROMOSOME_Y = 24; - } - - STRChromosome chromosome = 1; - string confidence_level = 2; - string entity_name = 3; - string entity_type = 4; - repeated string evidence = 5; - GeneData gene_data = 6; - repeated int32 grch37_coordinates = 7; - repeated int32 grch38_coordinates = 8; - string mode_of_inheritance = 9; - - // =< Maximum normal number of repeats - int32 normal_repeats = 10; - Panel panel = 11; - - // >= Minimum fully penetrant pathogenic number of repeats - int32 pathogenic_repeats = 12; - Penetrance penetrance = 13; - repeated string phenotypes = 14; - repeated string publications = 15; - string repeated_sequence = 16; - repeated string tags = 17; -} diff --git a/src/genes/cli/data.rs b/src/genes/cli/data.rs index 1444f983..15393910 100644 --- a/src/genes/cli/data.rs +++ b/src/genes/cli/data.rs @@ -1585,15 +1585,38 @@ pub mod omim { pub mod panelapp { use serde::{Deserialize, Serialize}; + use crate::pbs::genes::base::panel_app_record; + /// Gene identity information. /// /// We only keep the minimal information as we already have everything in HGNC. + /// + /// Note that the HGNC ID/symbol can be empty for genes but then gene_symbol is set. + /// + /// For regions, all can be null. #[derive(Debug, Clone, Serialize, Deserialize)] pub struct GeneData { /// HGNC gene ID. - pub hgnc_id: String, + pub hgnc_id: Option, /// HGNC gene symbol. - pub hgnc_symbol: String, + pub hgnc_symbol: Option, + /// Gene symbol. + pub gene_symbol: Option, + } + + impl Into for GeneData { + fn into(self) -> panel_app_record::GeneData { + let GeneData { + hgnc_id, + hgnc_symbol, + gene_symbol, + } = self; + panel_app_record::GeneData { + hgnc_id, + hgnc_symbol, + gene_symbol, + } + } } /// Enumeration for entity types. @@ -1610,6 +1633,16 @@ pub mod panelapp { Region, } + impl Into for EntityType { + fn into(self) -> panel_app_record::EntityType { + match self { + EntityType::Gene => panel_app_record::EntityType::Gene, + EntityType::Str => panel_app_record::EntityType::Str, + EntityType::Region => panel_app_record::EntityType::Region, + } + } + } + /// Enumeration for confidence levels. #[derive(Debug, Clone, Copy, PartialEq, Eq, PartialOrd, Ord, Hash, Serialize, Deserialize)] pub enum ConfidenceLevel { @@ -1627,6 +1660,17 @@ pub mod panelapp { Green, } + impl Into for ConfidenceLevel { + fn into(self) -> panel_app_record::ConfidenceLevel { + match self { + ConfidenceLevel::None => panel_app_record::ConfidenceLevel::None, + ConfidenceLevel::Red => panel_app_record::ConfidenceLevel::Red, + ConfidenceLevel::Amber => panel_app_record::ConfidenceLevel::Amber, + ConfidenceLevel::Green => panel_app_record::ConfidenceLevel::Green, + } + } + } + /// Enumeration for penetrance. #[derive( Default, Debug, Clone, Copy, PartialEq, Eq, PartialOrd, Ord, Hash, Serialize, Deserialize, @@ -1644,6 +1688,16 @@ pub mod panelapp { Incomplete, } + impl Into for Penetrance { + fn into(self) -> panel_app_record::Penetrance { + match self { + Penetrance::Unknown => panel_app_record::Penetrance::Unknown, + Penetrance::Complete => panel_app_record::Penetrance::Complete, + Penetrance::Incomplete => panel_app_record::Penetrance::Incomplete, + } + } + } + /// Panel statistics. #[derive(Debug, Clone, Serialize, Deserialize)] pub struct PanelStats { @@ -1655,6 +1709,16 @@ pub mod panelapp { pub number_of_regions: u32, } + impl Into for PanelStats { + fn into(self) -> panel_app_record::PanelStats { + panel_app_record::PanelStats { + number_of_genes: self.number_of_genes, + number_of_strs: self.number_of_strs, + number_of_regions: self.number_of_regions, + } + } + } + /// Panel type. #[derive(Debug, Clone, Serialize, Deserialize)] pub struct PanelType { @@ -1666,13 +1730,28 @@ pub mod panelapp { pub description: String, } + impl Into for PanelType { + fn into(self) -> panel_app_record::PanelType { + let PanelType { + name, + slug, + description, + } = self; + panel_app_record::PanelType { + name, + slug, + description, + } + } + } + /// Representation of a panel. #[derive(Debug, Clone, Serialize, Deserialize)] pub struct Panel { /// Panel ID. pub id: u32, /// Panel hash ID. - pub hash_id: String, + pub hash_id: Option, /// The panel name. pub name: String, /// The disease group. @@ -1691,6 +1770,38 @@ pub mod panelapp { pub types: Vec, } + impl Into for Panel { + fn into(self) -> panel_app_record::Panel { + let Panel { + id, + hash_id, + name, + disease_group, + disease_sub_group, + version, + version_created, + relevant_disorders, + stats, + types, + } = self; + panel_app_record::Panel { + id, + hash_id, + name, + disease_group, + disease_sub_group, + version, + version_created, + relevant_disorders, + stats: Some(Into::::into(stats)), + types: types + .into_iter() + .map(|t| Into::::into(t)) + .collect(), + } + } + } + /// Representation of one gene record. #[derive(Debug, Clone, Serialize, Deserialize)] pub struct Record { @@ -1717,6 +1828,36 @@ pub mod panelapp { pub panel: Panel, } + impl Into for Record { + fn into(self) -> crate::pbs::genes::base::PanelAppRecord { + let Record { + gene_data, + entity_type, + entity_name, + confidence_level, + penetrance, + publications, + evidence, + phenotypes, + mode_of_inheritance, + panel, + } = self; + crate::pbs::genes::base::PanelAppRecord { + gene_data: gene_data.map(|g| Into::::into(g)), + entity_type: Into::::into(entity_type) as i32, + entity_name, + confidence_level: Into::::into(confidence_level) + as i32, + penetrance: Into::::into(penetrance) as i32, + publications, + evidence, + phenotypes, + mode_of_inheritance, + panel: Some(Into::::into(panel)), + } + } + } + fn deserialize_null_default<'de, D, T>(deserializer: D) -> Result where T: Default + Deserialize<'de>, @@ -2354,7 +2495,14 @@ mod tests { let str_jsonl = std::fs::read_to_string(path_jsonl)?; let records = str_jsonl .lines() - .map(|s| serde_json::from_str::(s).unwrap()) + .map(|s| { + serde_json::from_str::(s) + .map_err(|e| { + println!("{}", &s); + e + }) + .unwrap() + }) .collect::>(); insta::assert_yaml_snapshot!(records); diff --git a/src/genes/cli/import.rs b/src/genes/cli/import.rs index 1d184eee..5e3390f6 100644 --- a/src/genes/cli/import.rs +++ b/src/genes/cli/import.rs @@ -13,7 +13,7 @@ use tracing::info; use crate::{ common::{self, version}, - pbs, + pbs::{self, genes::base::PanelAppRecord}, }; use super::data::{ @@ -330,7 +330,16 @@ fn load_orpha(path: &str) -> Result, anyhow::Erro /// # Result /// /// A map from HGNC ID to PanelApp gene record. -fn load_panelapp(path: &str) -> Result>, anyhow::Error> { +fn load_panelapp( + path: &str, + hgnc: &HashMap, +) -> Result>, anyhow::Error> { + // Build map from HGNC gene symbol to HGNC id. + let hgnc_symbol_to_id = hgnc + .iter() + .map(|(hgnc_id, record)| (record.symbol.clone(), hgnc_id)) + .collect::>(); + info!(" loading PanelApp information from {}", path); let mut result: HashMap> = HashMap::new(); @@ -339,10 +348,13 @@ fn load_panelapp(path: &str) -> Result>, a let line = line?; let record = serde_json::from_str::(&line)?; if let Some(gene_data) = record.gene_data.as_ref() { - result - .entry(gene_data.hgnc_id.clone()) - .or_default() - .push(record); + if let Some(hgnc_id) = gene_data.hgnc_id.as_ref() { + result.entry(hgnc_id.clone()).or_default().push(record); + } else if let Some(gene_symbol) = gene_data.gene_symbol.as_ref() { + if let Some(hgnc_id) = hgnc_symbol_to_id.get(gene_symbol) { + result.entry((*hgnc_id).clone()).or_default().push(record); + } + } } } @@ -964,7 +976,10 @@ fn convert_record(record: data::Record) -> pbs::genes::base::Record { } }); - let panelapp = panelapp.into_iter().map(|gene| todo!()).collect::>(); + let panelapp = panelapp + .into_iter() + .map(|gene| Into::::into(gene)) + .collect::>(); let rcnv = rcnv.map(|rcnv| { let rcnv::Record { @@ -1139,7 +1154,7 @@ pub fn run(common_args: &common::cli::Args, args: &Args) -> Result<(), anyhow::E let ncbi_by_ncbi_id = load_ncbi(&args.path_in_ncbi)?; let omim_by_hgnc_id = load_omim(&args.path_in_omim)?; let orpha_by_hgnc_id = load_orpha(&args.path_in_orpha)?; - let panelapp_by_hgnc_id = load_panelapp(&args.path_in_panelapp)?; + let panelapp_by_hgnc_id = load_panelapp(&args.path_in_panelapp, &hgnc)?; let rcnv_by_hgnc_id = load_rcnv(&args.path_in_rcnv)?; let shet_by_hgnc_id = load_shet(&args.path_in_shet)?; let gtex_by_hgnc_id = load_gtex(&args.path_in_gtex)?; diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap new file mode 100644 index 00000000..a426d8a8 --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_acmg_sf_record.snap @@ -0,0 +1,16189 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- gene_id: "673" + summary: "This gene encodes a protein belonging to the RAF family of serine/threonine protein kinases. This protein plays a role in regulating the MAP kinase/ERK signaling pathway, which affects cell division, differentiation, and secretion. Mutations in this gene, most commonly the V600E mutation, are the most frequently identified cancer-causing mutations in melanoma, and have been identified in various other cancers as well, including non-Hodgkin lymphoma, colorectal cancer, thyroid carcinoma, non-small cell lung carcinoma, hairy cell leukemia and adenocarcinoma of lung. Mutations in this gene are also associated with cardiofaciocutaneous, Noonan, and Costello syndromes, which exhibit overlapping phenotypes. A pseudogene of this gene has been identified on the X chromosome. [provided by RefSeq, Aug 2017]" + rif_entries: + - text: WNT5A-ROR2 axis mediates VEGF dependence of BRAF mutant melanoma. + pmids: + - "36539575" + - text: "[Landscape of KRAS, BRAF, and PIK3CA Mutations and Clinical Features of EBV-Associated and Microsatellite Unstable Gastric Cancer]." + pmids: + - "36976740" + - text: Association of DNA Promoter Methylation and BRAF Mutation in Thyroid Cancer. + pmids: + - "36975440" + - text: Mapping Immune Correlates and Surfaceome Genes in BRAF Mutated Colorectal Cancers. + pmids: + - "36975409" + - text: "Analysis of a pre-2017 follicular variant papillary thyroid carcinoma cohort reclassified as noninvasive follicular thyroid neoplasm with papillary-like features (NIFTP): an 11-year retrospective single institution experience." + pmids: + - "36372672" + - text: "Association of BRAF Variants With Disease Characteristics, Prognosis, and Targeted Therapy Response in Intrahepatic Cholangiocarcinoma." + pmids: + - "36867406" + - text: MUC1-C is necessary for SHP2 activation and BRAF inhibitor resistance in BRAF(V600E) mutant colorectal cancer. + pmids: + - "36878307" + - text: "MR Imaging of Pediatric Low-Grade Gliomas: Pretherapeutic Differentiation of BRAF V600E Mutation, BRAF Fusion, and Wild-Type Tumors in Patients without Neurofibromatosis-1." + pmids: + - "35863783" + - text: "The Presence of Typical \"BRAFV600E-Like\" Atypia in Papillary Thyroid Carcinoma is Highly Specific for the Presence of the BRAFV600E Mutation." + pmids: + - "36709221" + - text: "Association of BRAF[V600E] Mutation with the Aggressive Behavior of Papillary Thyroid Microcarcinoma: A Meta-Analysis of 33 Studies." + pmids: + - "36555268" + - text: "Resistance to BRAF Inhibitors: EZH2 and Its Downstream Targets as Potential Therapeutic Options in Melanoma." + pmids: + - "36768289" + - text: "Rare adult pilocytic astrocytoma of the septum pellucidum with novel RIN2::BRAF fusion." + pmids: + - "36520196" + - text: TMB and BRAF mutation status are independent predictive factors in high-risk melanoma patients with adjuvant anti-PD-1 therapy. + pmids: + - "35192052" + - text: Detection of BRAF mutations in malignant melanoma and colorectal cancer by SensiScreen(R) FFPE BRAF qPCR assay. + pmids: + - "36758042" + - text: "[Two Cases of Recurrent Colon Cancer with BRAF Mutation]." + pmids: + - "36733110" + - text: Clinical associations and genetic interactions of oncogenic BRAF alleles. + pmids: + - "36275468" + - text: The implication of BRAF mutation in advanced colorectal cancer. + pmids: + - "34877621" + - text: BRAFV600E Mutation Enhances Estrogen-Induced Metastatic Potential of Thyroid Cancer by Regulating the Expression of Estrogen Receptors. + pmids: + - "36604958" + - text: "RAS and BRAF genes as biomarkers and target for personalised colorectal cancer therapy: An update." + pmids: + - "36591710" + - text: The relationship of the clinicopathological characteristics and treatment results of post-Chornobyl papillary thyroid microcarcinomas with the latency period and radiation exposure. + pmids: + - "36589808" + - text: "Silencing FOXP2 reverses vemurafenib resistance in BRAF[V600E] mutant papillary thyroid cancer and melanoma cells." + pmids: + - "36331719" + - text: BRAF V600E and Novel Somatic Mutations in Thyroid Cancer of Libyan Patients. + pmids: + - "36579983" + - text: Detection and genomic analysis of BRAF fusions in Juvenile Pilocytic Astrocytoma through the combination and integration of multi-omic data. + pmids: + - "36503484" + - text: "BRAF[V600E] in colorectal cancer reduces sensitivity to oxidative stress and promotes site-specific metastasis by stimulating glutathione synthesis." + pmids: + - "36450250" + - text: Prognostic value of blood cell count-derived ratios in BRAF-mutated metastatic melanoma. + pmids: + - "34446937" + - text: Immunological and Clinico-Molecular Features of Tumor Border Configuration in Colorectal Cancer. + pmids: + - "36519916" + - text: "Association of BRAF V600E Status of Incident Melanoma and Risk for a Second Primary Malignancy: A Population-Based Study." + pmids: + - "36446115" + - text: Identification of a miRNA-based non-invasive predictive biomarker of response to target therapy in BRAF-mutant melanoma. + pmids: + - "36438490" + - text: RASopathy mutations provide functional insight into the BRAF cysteine-rich domain and reveal the importance of autoinhibition in BRAF regulation. + pmids: + - "36347258" + - text: Positive BRAFV600E mutation of primary tumor influences radioiodine avidity but not prognosis of papillary thyroid cancer with lung metastases. + pmids: + - "36407316" + - text: "Non-V600E/K BRAF Mutations in Metastatic Melanoma: Molecular Description, Frequency, and Effectiveness of Targeted Therapy in a Large National Cohort." + pmids: + - "36356284" + - text: "Energy balance-related factors in childhood and adolescence and risk of colorectal cancer based on KRAS, PIK3CA, and BRAF mutations and MMR status." + pmids: + - "36177801" + - text: "Clinical characteristics and treatment outcomes of non-V600 E/K BRAF mutant melanoma patients: a single-institution experience." + pmids: + - "36039514" + - text: Prevalence and breakdown of non-small cell lung cancer BRAF driver mutations in a large UK cohort. + pmids: + - "36156323" + - text: Phosphoproteomics reveals the BRAF-ERK1/2 axis as an important pathogenic signaling node in cartilage degeneration. + pmids: + - "36100125" + - text: The lipid transporter HDLBP promotes hepatocellular carcinoma metastasis through BRAF-dependent epithelial-mesenchymal transition. + pmids: + - "36122630" + - text: Clinical Significance of PEAK1 Expression and BRAF V600E Mutation in Papillary Thyroid Cancer. + pmids: + - "35996515" + - text: MEK inhibitor sensitivity in BRAF fusion-driven prostate cancer. + pmids: + - "35994225" + - text: Association between BRAF expression in circulating tumor cells and the clinical feature of patients with multiple myeloma. + pmids: + - "35951455" + - text: DOG1 overexpression is associated with mismatch repair deficiency and BRAF mutations but unrelated to cancer progression in colorectal cancer. + pmids: + - "35642329" + - text: "A cross-sectional study of clinical, dermoscopic, histopathological, and molecular patterns of scalp melanoma in patients with or without androgenetic alopecia." + pmids: + - "36064728" + - text: Correlation of MRI signal characteristics of intracranial melanoma metastases with BRAF mutation status. + pmids: + - "35979667" + - text: "Concurrent BRAFV600E and BRCA Mutations in MSS Metastatic Colorectal Cancer: Prevalence and Case Series of mCRC patients with prolonged OS." + pmids: + - "35567913" + - text: The genetic duet of BRAF V600E and TERT promoter mutations predicts the poor curative effect of radioiodine therapy in papillary thyroid cancer. + pmids: + - "35501518" + - text: Prevalence of the BRAF (V600E) mutation in Greek adults with Langerhans cell histiocytosis. + pmids: + - "35139731" + - text: Exome sequencing revealed comparable frequencies of RNF43 and BRAF mutations in Middle Eastern colorectal cancer. + pmids: + - "35907983" + - text: BRAF increases endothelial cell stiffness through reorganization of the actin cytoskeleton. + pmids: + - "35916021" + - text: The clinical significance of BRAFV600E mutations in pediatric papillary thyroid carcinomas. + pmids: + - "35879379" + - text: "BRAF V600E Expression in Primary Melanoma and Its Association With Death: A Population-Based, Retrospective, Cross-Sectional Study." + pmids: + - "35856752" + - text: Characterization of BRAF mutation in patients older than 45 years with well-differentiated thyroid carcinoma. + pmids: + - "32972866" + - text: "Correlation of BRAF mutational status with clinical characteristics and survival outcomes of patients with ameloblastoma: the experience of 11 Italian centres." + pmids: + - "33827932" + - text: "The Transcriptional Landscape of BRAF Wild Type Metastatic Melanoma: A Pilot Study." + pmids: + - "35805902" + - text: Acquired resistance to BRAF inhibitors is mediated by BRAF splicing variants in BRAF V600E mutation-positive colorectal neuroendocrine carcinoma. + pmids: + - "35724767" + - text: "Mind your head: two cases of mucosal metastasis of BRAF-mutated melanoma of the scalp." + pmids: + - "34142226" + - text: Risk Factors for Neck Nodal Metastasis in Papillary Thyroid Cancer With BRAF V600E Mutation. + pmids: + - "35784548" + - text: Analysis of BRAF V600E expression and disease-free survival in patients with ameloblastoma. + pmids: + - "34998647" + - text: BRAF Rearrangements and BRAF V600E Mutations Are Seen in a Subset of Pancreatic Carcinomas With Acinar Differentiation. + pmids: + - "34614142" + - text: "Tumor profiling of KRAS, BRAF, and NRAS gene mutations in patients with colorectal cancer: A Lebanese major center cohort study." + pmids: + - "35680020" + - text: "BRAF Immunoexpression Can Be Intralesionally Heterogeneous but BRAF V600E Mutation Status Is Intralesionally Homogeneous and Interlesionally Concordant in Melanoma: A Study of 140 Lesions From 98 Patients." + pmids: + - "35120030" + - text: Mutation patterns and prognostic analysis of BRAF/KRAS/PIK3CA in colorectal cancer. + pmids: + - "35435290" + - text: "MLH1, BRAF and p53 - searching for significant markers to predict evolution towards adenocarcinoma in colonic sessile serrated lesions." + pmids: + - "35673816" + - text: Clinical and radiological findings of glioblastomas harboring a BRAF V600E mutation. + pmids: + - "35362874" + - text: BRAF V600E and previously unidentified KRAS G12C mutations in odontogenic tumors may affect MAPK activation differently depending on tumor type. + pmids: + - "35353428" + - text: AK2 is an AMP-sensing negative regulator of BRAF in tumorigenesis. + pmids: + - "35585049" + - text: "Primary vitreoretinal involvement and immunopositivity for BRAFV600E help distinguish metastatic from primary intraocular melanoma: a detailed histopathologic study of metastatic cutaneous melanoma to the eye." + pmids: + - "35275414" + - text: Genetic Study of BRAF V600E and SMO L412F Mutations in Japanese Patients with Ameloblastoma. + pmids: + - "34994576" + - text: Clinicopathologic features and BRAF mutation status of tracheal glomus tumors - Characterization of 4 cases and the distinction from low-grade neuroendocrine tumors. + pmids: + - "34509154" + - text: "Characterization of TERT and BRAF copy number variation in papillary thyroid carcinoma: An analysis of the cancer genome atlas study." + pmids: + - "33305870" + - text: "Association of RAS/BRAF Status and Prognosis of Metastatic Colorectal Cancer: Analysis of 1002 Consecutive Cases." + pmids: + - "35301609" + - text: "The earliest events in BRAF-mutant colorectal cancer: exome sequencing of sessile serrated lesions with a tiny focus dysplasia or cancer reveals recurring mutations in two distinct progression pathways." + pmids: + - "35143042" + - text: Identification of BRAF V600E mutation in odontogenic tumors by high-performance MALDI-TOF analysis. + pmids: + - "35468886" + - text: "Benign and Intermediate-grade Melanocytic Tumors With BRAF Mutations and Spitzoid Morphology: A Subset of Melanocytic Neoplasms Distinct From Melanoma." + pmids: + - "34753863" + - text: BRAF Mutations Are Associated with Poor Survival Outcomes in Advanced-stage Mismatch Repair-deficient/Microsatellite High Colorectal Cancer. + pmids: + - "35274712" + - text: Same-Cell Co-Occurrence of RAS Hotspot and BRAF V600E Mutations in Treatment-Naive Colorectal Cancer. + pmids: + - "35235413" + - text: Single nucleotide polymorphisms in matrix metalloproteinase 2 (MMP2) enhance BRAFV600E mutation-mediated oncogenicity and invasiveness of papillary thyroid cancer cells. + pmids: + - "33690170" + - text: "The prognostic and predictive impact of BRAF mutations in deficient mismatch repair/microsatellite instability-high colorectal cancer: systematic review/meta-analysis." + pmids: + - "34323124" + - text: Psychological impact of BRAF mutational status in advanced melanoma patients. + pmids: + - "34159774" + - text: "KRAS and BRAF Mutations in Stage II and III Colon Cancer: A Systematic Review and Meta-Analysis." + pmids: + - "34542636" + - text: A B-Raf V600E gene signature for melanoma predicts prognosis and reveals sensitivity to targeted therapies. + pmids: + - "35044091" + - text: "[BRAF mutation evolution in melanoma: Myth or reality?]\", trans \"Evolution du statut braf dans le melanome : mythe ou Realite ?" + pmids: + - "34865880" + - text: Characterization of the treatment-naive immune microenvironment in melanoma with BRAF mutation. + pmids: + - "35383113" + - text: TP53/BRAF mutation as an aid in predicting response to immune-checkpoint inhibitor across multiple cancer types. + pmids: + - "35344507" + - text: Plasticity of Extrachromosomal and Intrachromosomal BRAF Amplifications in Overcoming Targeted Therapy Dosage Challenges. + pmids: + - "34930786" + - text: "[Clinicopathological features and BRAF V600E and MYD88 L265P mutation status of nodal marginal zone lymphoma]." + pmids: + - "35359040" + - text: Spectrum of BRAF Mutations and Gene Rearrangements in Ovarian Serous Carcinoma. + pmids: + - "34568720" + - text: Oncogenic Mutations in PI3K/AKT/mTOR Pathway Effectors Associate with Worse Prognosis in BRAF(V600E) -Driven Papillary Thyroid Cancer Patients. + pmids: + - "34088725" + - text: "Phase I-II Open-Label Multicenter Study of Palbociclib + Vemurafenib in BRAF (V600MUT) Metastatic Melanoma Patients: Uncovering CHEK2 as a Major Response Mechanism." + pmids: + - "33947696" + - text: "Frequency and Clinicopathological Characteristics of Patients With KRAS/BRAF Double-Mutant Colorectal Cancer: An In Silico Study." + pmids: + - "35280113" + - text: Tumors carrying BRAF-mutations over-express NAMPT that is genetically amplified and possesses oncogenic properties. + pmids: + - "35272691" + - text: BRAF-activated WT1 contributes to cancer growth and regulates autophagy and apoptosis in papillary thyroid carcinoma. + pmids: + - "35123502" + - text: "USP8, USP48, and BRAF mutations differ in their genotype-phenotype correlation in Asian Indian patients with Cushing's disease." + pmids: + - "34664215" + - text: Circulating Tumor DNA Harboring the BRAF(V600E) Mutation May Predict Poor Outcomes of Primary Papillary Thyroid Cancer Patients. + pmids: + - "34541884" + - text: "Retrospective Case Series Analysis of RAF Family Alterations in Pancreatic Cancer: Real-World Outcomes From Targeted and Standard Therapies." + pmids: + - "34476331" + - text: "Selective extraction of low-abundance BRAF V600E mutation from plasma, urine, and sputum using ion-tagged oligonucleotides and magnetic ionic liquids." + pmids: + - "33644840" + - text: Oncogenic Mutation BRAF V600E Changes Phenotypic Behavior of THLE-2 Liver Cells through Alteration of Gene Expression. + pmids: + - "35163468" + - text: BRAF mutations may identify a clinically distinct subset of glioblastoma. + pmids: + - "34625582" + - text: Gastrointestinal stromal tumors with BRAF gene fusions. A report of two cases showing low or absent KIT expression resulting in diagnostic pitfalls. + pmids: + - "34398495" + - text: "Impact of BRAF mutations on clinical outcomes following liver surgery for colorectal liver metastases: An updated meta-analysis." + pmids: + - "34099355" + - text: "Impact of KRAS, BRAF and microsatellite instability status after cytoreductive surgery and HIPEC in a national cohort of colorectal peritoneal metastasis patients." + pmids: + - "34887523" + - text: GJB5 association with BRAF mutation and survival in cutaneous malignant melanoma. + pmids: + - "34240406" + - text: "BRAF V600E potentially determines \"\"Oncological Resectability\"\" for \"\"Technically Resectable\"\" colorectal liver metastases." + pmids: + - "34535965" + - text: Cardiomyocyte BRAF and type 1 RAF inhibitors promote cardiomyocyte and cardiac hypertrophy in mice in vivo. + pmids: + - "35147166" + - text: "[Correlation between conventional ultrasound features and BRAFV600E gene mutation and central lymph node metastasis in thyroid papillary carcinoma]." + pmids: + - "35193339" + - text: "Prognostic role of tumour-infiltrating lymphocytes and macrophages in relation to MSI, CDX2 and BRAF status: a population-based study of metastatic colorectal cancer patients." + pmids: + - "34671130" + - text: Structural insights into the BRAF monomer-to-dimer transition mediated by RAS binding. + pmids: + - "35078985" + - text: Acetylation-dependent regulation of BRAF oncogenic function. + pmids: + - "35045286" + - text: Diverse kinase alterations and myeloid-associated mutations in adult histiocytosis. + pmids: + - "34611301" + - text: The positive feedback loop of NHE1-ERK phosphorylation mediated by BRAF(V600E) mutation contributes to tumorigenesis and development of glioblastoma. + pmids: + - "34933181" + - text: A phospho-proteomic study of cetuximab resistance in KRAS/NRAS/BRAF(V600) wild-type colorectal cancer. + pmids: + - "34462871" + - text: Impact of BRAF mutations in nasopharyngeal carcinoma. + pmids: + - "34077019" + - text: Population-based analysis of the prevalence of BRAF mutation in patients diagnosed with cutaneous melanoma and its significance as a prognostic factor. + pmids: + - "34789445" + - text: "Significance of BRAF(V600E) mutation in intra-axial brain tumor in Malaysian patients: case series and literature review." + pmids: + - "34190524" + - text: "Clinical, radiological and genomic features and targeted therapy in BRAF V600E mutant adult glioblastoma." + pmids: + - "33646525" + - text: "VISTA, PDL-L1, and BRAF-A Review of New and Old Markers in the Prognosis of Melanoma." + pmids: + - "35056382" + - text: BRAF mutation correlates with worse local-regional control following radiation therapy in patients with stage III melanoma. + pmids: + - "34537078" + - text: LSD1 and Aberrant DNA Methylation Mediate Persistence of Enteroendocrine Progenitors That Support BRAF-Mutant Colorectal Cancer. + pmids: + - "34035083" + - text: Novel BRAF gene fusions and activating point mutations in spindle cell sarcomas with histologic overlap with infantile fibrosarcoma. + pmids: + - "33850302" + - text: "BRAF V600E/V600K Mutations versus Nonstandard Alterations: Prognostic Implications and Therapeutic Outcomes." + pmids: + - "33722853" + - text: RAF-Mutant Melanomas Differentially Depend on ERK2 Over ERK1 to Support Aberrant MAPK Pathway Activation and Cell Proliferation. + pmids: + - "33707308" + - text: Metabolic Regulator IAPP (Amylin) Is Required for BRAF and RAS Oncogene-Induced Senescence. + pmids: + - "33500359" + - text: Plasma proteome alterations by MAPK inhibitors in BRAF(V600)-mutated metastatic cutaneous melanoma. + pmids: + - "34246984" + - text: BRAF(V600E) Overrides NOTCH Signaling in Thyroid Cancer. + pmids: + - "33012268" + - text: "Clinical Characteristics of BRAF V600E Gene Mutation in Patients of Epilepsy-Associated Brain Tumor: a Meta-analysis." + pmids: + - "33791912" + - text: "Liquid biopsy for BRAF mutations testing in non-small cell lung cancer: a retrospective study." + pmids: + - "33277344" + - text: "Excellent Response to MEK Inhibition in an AGK-BRAF Gene Fusion Driven Carcinoma: Case Report and Literature Review." + pmids: + - "34969747" + - text: TERT promoter mutations are associated with longer progression-free and overall survival in patients with BRAF-mutant melanoma receiving BRAF and MEK inhibitor therapy. + pmids: + - "34936949" + - text: Development of a Molecular Assay for Detection and Quantification of the BRAF Variation in Residual Tissue From Thyroid Nodule Fine-Needle Aspiration Biopsy Specimens. + pmids: + - "34613404" + - text: "The Prognostic Value of Locoregional Interventions for BRAF V600E Metastatic Colorectal Cancer: A Retrospective Cohort Analysis." + pmids: + - "34572480" + - text: B-Raf autoinhibition in the presence and absence of 14-3-3. + pmids: + - "33711246" + - text: "BRAF (V600E) Mutation in Cell-Free DNA, Rather than in Lesion Tissues, at Diagnosis Is An Independent Prognostic Factor in Children with Langerhans Cell Histiocytosis." + pmids: + - "33879554" + - text: Genomic and prognostic heterogeneity among RAS/BRAF(V600E) /TP53 co-mutated resectable colorectal liver metastases. + pmids: + - "33325154" + - text: "Brain structural changes in patients with cardio-facio-cutaneous syndrome: effects of BRAF gene mutation and epilepsy on brain development. A case-control study by quantitative magnetic resonance imaging." + pmids: + - "34309696" + - text: Common and mutation specific phenotypes of KRAS and BRAF mutations in colorectal cancer cells revealed by integrative -omics analysis. + pmids: + - "34233735" + - text: METTL3 induces PLX4032 resistance in melanoma by promoting m(6)A-dependent EGFR translation. + pmids: + - "34530048" + - text: "High prevalence of BRAF(V600E) in patients with cholestasis, sclerosing cholangitis or liver fibrosis secondary to Langerhans cell histiocytosis." + pmids: + - "33991404" + - text: The Association of the BRAF-V600E Mutation with the Expression of the Molecular Markers in the Primary Tumor and Metastatic Tissue in Papillary Thyroid Cancer. + pmids: + - "34319022" + - text: Intermittent BRAF inhibition in advanced BRAF mutated melanoma results of a phase II randomized trial. + pmids: + - "34853302" + - text: High frequency of BRAF mutations in primary mucinous ovarian carcinoma of Taiwanese patients. + pmids: + - "34794740" + - text: "Clinical and prognostic characteristics of 95 cases of Langerhans cell histiocytosis in children: a single-institute experience from 2013 to 2020." + pmids: + - "34459688" + - text: BRAF mutations and BRAF mutation functional class have no negative impact on the clinical outcome of advanced NSCLC and associate with susceptibility to immunotherapy. + pmids: + - "33872981" + - text: BRAF Mutation Is Associated with Hyperplastic Polyp-Associated Gastric Cancer. + pmids: + - "34884530" + - text: Comparative study of BRAF gene mutations in ovarian serous tumors by immunohistochemistry and DNA sequencing. + pmids: + - "34268919" + - text: Oncogene mutational analysis in imatinib naive population of gastrointestinal stromal tumor patients. + pmids: + - "34174973" + - text: BRAF(V600E) induces reversible mitotic arrest in human melanocytes via microrna-mediated suppression of AURKB. + pmids: + - "34812139" + - text: BRAF V600E mutation is associated with aggressive features in papillary thyroid carcinomas A mutation in Mexican Papillary Thyroid Cancer patients. + pmids: + - "29808165" + - text: The frequency of BRAF mutations was significantly higher in Serrated Lesions subgroups with highly methylated epigenotype tumors and microsatellite instability. + pmids: + - "29974407" + - text: The rate of EGFR mutation was significantly higher in female and non-smoker patients. In TTF-1 positive cases EGFR mutation was more frequent. Age of the patients over 62-year old was correlated with KRAS mutations. The concordance between ALK IHC and FISH was 58.3%. The MET protein in the cases with MET amplification was 100% positive. + pmids: + - "28756651" + - text: "Lower CA125 serum levels, negative vascular invasion, and wild-type BRAF status were significantly associated with improved 2-year DFS rates among patient with stage III disease who received adjuvant chemotherapy." + pmids: + - "29562502" + - text: "genetic association/nutrigenomic studies in population in Seoul, Republic of Korea: Data suggest that (1) relatively low iodine intake and (2) more than excessive iodine intake are significant risk factors for occurrence of BRAF mutations in thyroid gland and may be risk factors for development of PTC (papillary thyroid cancer) in iodine-replete area." + pmids: + - "28258306" + - text: The BRAF gene has been reported to be mutated in some human cancers. The BRAF mutations have been implicated in ameloblastoma. + pmids: + - "28650588" + - text: The BRAFV600E mutation status may not impact the clinical response to radioiodine therapy for papillary thyroid carcinoma patients + pmids: + - "29762246" + - text: Children with Langerhans cell histiocytosis (LCH) tend to have a high overall survival rate and a high incidence rate of BRAF-V600E mutation. + pmids: + - "29658453" + - text: "BRAF mutations more frequently affected individuals younger than 61 with phototype II. In contrast, NRAS mutations were more frequent in phototype III cases. Mutations of both genes were more frequent in cases with satellitosis in the first melanoma, and in cases with ulceration in the subsequent lesions." + pmids: + - "29180316" + - text: Identification of KRAS/NRAS/BRAF mutation status is crucial to predict the therapeutic effect and determine individual therapeutic strategies for patients with colorectal cancer. + pmids: + - "29335867" + - text: we did not observe GNAS or BRAF mutations in urachal adenocarcinomas + pmids: + - "28285720" + - text: "Study finds infrequent BRAF alterations but enriched FGFR alterations in adults as compared with that reported in pediatric pilocytic astrocytomas. In addition, coexistent BRAF and FGFR alterations and a significant association of FGFR alterations with age and tumor location were noted." + pmids: + - "27608415" + - text: a low frequency of BRAF or KRAS mutation in Chinese patients with low-grade serous carcinoma of the ovary + pmids: + - "29273082" + - text: "genetic association studies in population in China: Data suggest that, in patients with unilateral papillary thyroid carcinoma, a mutation in BRAF (V600E) plus multi-focality are both independently and synergically associated with CLNM (central lymph node metastasis) in the population studied." + pmids: + - "29070763" + - text: "RHEB Y35N expressing cells undergo cancer transformation due to decreased interaction between RHEB and BRAF resulting in overactive RAF/MEK/ERK signaling. Taken together with the previously established function of RHEB to activate mTORC1 signaling, it appears that RHEB performs a dual function; one is to suppress the RAF/MEK/ERK signaling and the other is to activate mTORC1 signaling." + pmids: + - "29320991" + - text: The MLH1-93 AA genotype is significantly associated with promoter hypermethylation and MLH1 loss in the context of Sessile serrated adenoma of dysplasia. BRAF mutant microsatellite stable colorectal cancers with the AA genotype most likely arise in traditional serrated adenomas since the A allele does not predispose to methylation in this context. + pmids: + - "29304767" + - text: "Knowing the mutation status of KRAS, BRAF or PIK3CA in stage II colorectal cancer can significantly improve the accuracy of prognoses." + pmids: + - "28685592" + - text: "Mutated Liquid-based FNAs BRAF, N/HRAS and TERT mutations were significantly associated with malignancy regardless of the cytological classification" + pmids: + - "29094776" + - text: "our study suggests that an activating BRAF I463T mutation was associated with eosinophilic cystitis. Importantly, analysis of ctDNA obtained through \"liquid biopsies\" can identify potentially important genomic alterations in patients for whom biopsy may be difficult in terms of risk or cost." + pmids: + - "28829677" + - text: "The presence of BRAF(V600E) mutation in PTC confers a higher likelihood of FDG PET avidity and is associated with higher SUV uptake values compared to BRAF(V600E)-mutation negative status. [Review and Meta-Analysis]" + pmids: + - "29144823" + - text: "CREB1 may activate the transcription of wtBRAF through directly binding to its promoter, increasing BRAF expression and regulating the cell proliferation, migration and invasion of endometriosis." + pmids: + - "29286077" + - text: "A series of midline gangliogliomas demonstrate that the H3 K27M mutation can occur in association with the BRAF V600E mutation in grade I glioneuronal tumors. Despite the presence of H3 K27M mutations, these cases should not be graded and treated as grade IV tumors because they have a better spontaneous outcome than classic diffuse midline H3 K27M-mutant glioma." + pmids: + - "27984673" + - text: "In in vivo xenograft studies, BVD-523 showed dose-dependent growth inhibition and tumor regression. BVD-523 yielded synergistic antiproliferative effects in a BRAF(V600E)-mutant melanoma cell line xenograft model when used in combination with BRAF inhibition. Antitumor activity was also demonstrated in in vitro and in vivo models of acquired resistance to single-agent and combination BRAF/MEK-targeted therapy" + pmids: + - "28939558" + - text: "Proteomic analysis discovers that a novel E3 ligase, RNF44, accounts for ubiquitin-proteasome system of AMPK-alpha1 degradation in BRAF inhibitor-resistant melanoma cells." + pmids: + - "29094484" + - text: "common conjunctival melanocytic nevi have mutually exclusive mutations in BRAF and NRAS. The two conjunctival blue nevi harbored GNAQ mutations. This suggests the driver mutations of conjunctival nevi are similar to those of nevi of the skin. At the molecular level, conjunctival nevi appear more like cutaneous nevi than choroidal nevi" + pmids: + - "29332123" + - text: "the mutational status of BRAF, NRAS, and TERT promoter genes in 97 melanomas, was investigated." + pmids: + - "29061376" + - text: Coexistence of BRAF V600E mutation and EZH2 gain is rather prevalent in melanoma. + pmids: + - "29202777" + - text: is is the first series on adult patients with BRAF-mutated malignant glioma and leptomeningeal dissemination treated with dabrafenib monotherapy. All patients showed a dramatic response with one patient showing an ongoing response for more than two years. + pmids: + - "29039591" + - text: summary of the current evidence of non-V600 BRAF mutations and BRAF fusions in melanoma (review). + pmids: + - "28278349" + - text: "we have found that a subgroup of colorectal cancers, defined by having either KRAS or BRAF (KRAS/BRAF) mutations and BCL2L1 (encoding BCL-XL) amplification, can be effectively targeted by simultaneous inhibition of BCL-XL (with ABT-263) and MCL1 (with YM-155)." + pmids: + - "28611106" + - text: "Results show BRAFV600E mutation in 42.1% of papillary thyroid cancer (PTC) patients enrolled. In addition, BRAF mutation status was associated with the methylation and expression level of HOXD10 in PTC." + pmids: + - "29115628" + - text: findings demonstrate that KSR-MEK complexes allosterically activate BRAF through the action of N-terminal regulatory region and kinase domain contacts and challenge the accepted role of KSR as a scaffold for MEK recruitment to RAF + pmids: + - "29433126" + - text: The result of our study adds to the growing consensus that BRAF V600E mutational status should be analyzed in correlation with other molecular and clinicopathological prognostic factors for a better risk stratification. + pmids: + - "29199726" + - text: These results indicate that BRAF V600E mutation occurs in OKCs at a high rate and plays an important role in the pathogenesis of OKCs + pmids: + - "29103753" + - text: "data are consistent with those of other studies reporting a positive relation between BRAF V600E mutation and poor prognostic factors in PTC; however, the BRAF status did not significantly correlate with a response to therapy." + pmids: + - "28718951" + - text: "Authors systematically compared BRAF V600E and V600K skin cutaneous melanoma (SKCM) samples from the Cancer Genome Atlas (TCGA) for differential protein, gene, and microRNA expression genome-wide using the Mann-Whitney U-test. Analyses showed that elements of energy-metabolism and protein-translation pathways were upregulated and that proapoptotic pathways were downregulated in V600K tumors compared with V600E tumors." + pmids: + - "28858076" + - text: Enhanced BRAF-mediated NRF2 gene transcription and Histone Acetyltransferases-mediated NRF2 protein acetylation contributes to ABCC1-mediated chemoresistance and glutathione-mediated survival in acquired topoisomerase II poison-resistant cancer cells. + pmids: + - "29080842" + - text: The presence and frequency of BRAF c.1799T > A mutation was investigated in two archival tissue specimens of Hairy cell leukemia and Hairy cell leukemia Variant. + pmids: + - "29238890" + - text: BRAFV600E and RET/PTC and the expression of NF-kappaB promote the proliferation and migration of papillary thyroid carcinoma cells in vitro. + pmids: + - "29117154" + - text: "Meta-analysis: The combination of BRAF and TERT promoter mutations could classify PTCs into four distinct risk groups with decreasing aggressiveness as follows: coexisting BRAF and TERT > TERT alone=BRAF alone > no mutations." + pmids: + - "28666074" + - text: Data indicate proto-oncogene protein B-raf (BRAF)-V600E as the sole recurring somatic mutation in sessile serrated polyps (SSPs) with no additional major genetic mutations detected. + pmids: + - "29590112" + - text: Our findings showed BRAF and/or KRAS mutations in three of seven cases of low-grade serous neoplasms of the testis + pmids: + - "28543997" + - text: mutation profiles of BRAF wild-type craniopharyngiomas and ameloblastomas share mutations of FGFR genes and have additional mutations with potential for targeted therapy + pmids: + - "29546640" + - text: "In vemurafenib-treated patients, the cell-cycle gene signature was associated with shorter PFS. However, in cobimetinib combined with vemurafenib-treated patients, both cell cycle and immune signature subgroups had comparable PFS. Cobimetinib combined with vemurafenib may abrogate the adverse impact of the cell-cycle signature." + pmids: + - "28536307" + - text: results indicate that exposure of the melanoma cell lines to a modified PNA-peptide conjugate complementary to BRAF(V600E) mutation sequence results in a concentration-dependent and time-dependent inhibition of cell growth that is specific for the BRAF(V600E)-mutant melanoma cell lines with inhibition of mRNA and protein expression. + pmids: + - "28937091" + - text: "The diesel exhaust fumes-exposed patients were diagnosed with a BRAF mutation in 25% of all cases. Given its minimal effects in the subgroups, we conclude that occupational exposure slightly affects the molecular pattern of lung cancers in never-smokers." + pmids: + - "29074543" + - text: "while telomere length did not correlate with the presence of a mutation in BRAF (V-raf murine sarcoma viral oncogene homolog B), PIK3CA (phosphatidylinositol 3-kinase catalytic subunit), or MSI status, it was significantly associated with the occurrence of a mutation in KRAS" + pmids: + - "28850092" + - text: "study to identify the incidence of BRAF and CTNNB1 gene mutations in craniopharyngiomas and correlate it with clinicopathological parameters including histopathology, immunohistochemical expression of proteins BRAF pVal600Glu and beta-catenin and clinical outcome" + pmids: + - "28500561" + - text: "Exposure to cetuximab and various concentration of AG490, an inhibitor of JAK2, STAT3 and HSP27 protein levels, except in the KRAS G12V mutant line, SW620...cetuximab may promote SN38 sensitivity via suppression of HSP27, through blocking the JAK/STAT signaling pathway, and shows synergistic effects when combined with SN38 in wild-type RAS CRC cells." + pmids: + - "28656305" + - text: "meta-analysis revealed that, in patients with colorectal cancer, the BRAF mutation was associated with female, proximal site, poor differentiation, >5 cm size, and advanced AJCC stage" + pmids: + - "28611337" + - text: "The results of the trial submitted to confirm clinical benefit, which formed the FDA basis for the regular approval of nivolumab for the first-line treatment of patients with BRAFV600 wild-type (WT) unresectable or metastatic melanoma, are described in this article." + pmids: + - "28073844" + - text: "the FDA granted accelerated approval to nivolumab (OPDIVO; Bristol-Myers Squibb) for the treatment of patients with unresectable or metastatic melanoma and disease progression following ipilimumab and, if BRAF V600 mutation positive, a BRAF inhibitor. Approval was based on a clinically meaningful, durable objective response rate (ORR) in a non-comparative analysis of 120 patients who received 3 mg/kg of nivolumab" + pmids: + - "28087644" + - text: These data suggest that BRAF V600E can predict the regrowth rate of brainstem gangliogliomas after microsurgery + pmids: + - "28986151" + - text: Frequency of BRAF(V600E) mutation was similar in prepubertal and pubertal patients. BRAF(V600E) mutation was found in 14/56 (25%) patients and was high in the classic variant papillary thyroid cancer + pmids: + - "28077340" + - text: KRAS and BRAF mutations are negatively associated with overall and relapse-free survival in patients who undergo complete liver resection for colorectal cancer liver metastases + pmids: + - "28216246" + - text: "The present case series suggests that the incidence of concomitant KRAS/BRAF mutations in patients with surgically treated colorectal liver metastasis may be higher than previously hypothesized, and associated with more variable survival outcomes than expected." + pmids: + - "29715113" + - text: We report acquisition of a BRAF fusion as a novel mechanism of acquired resistance to vemurafenib in a patient with melanoma harboring a BRAF(V600E) mutation. + pmids: + - "28539463" + - text: analysis of BRAF genetic alterations among the histologic variants of papillary thyroid carcinoma in Korea + pmids: + - "28293988" + - text: "In lung adenocarcinomas, BRAF mutations tended to occur in former or current smokers, and BRAF V600E mutations are more common in females. The histologic grade and architecture of these tumors varied significantly in both cytology and histology material, from well to poorly differentiated." + pmids: + - "29320776" + - text: "This study identified two mechanistic subtypes of melanoma: (1) the best responders to clinical BRAF/MEK inhibitors (25%) and (2) nonresponders due to primary resistance mechanisms (9.9%). We identified robust biomarkers that can detect these subtypes in patient samples and predict clinical outcome" + pmids: + - "28455392" + - text: the predictive value of BRAF mutation for central lymph node metastasis in papillary thyroid carcinoma was found to be related to the tumor size. + pmids: + - "26268700" + - text: "Clinical and morphological data and the results of molecular genetic studies led to the conclusion that there was eosinophilic granuloma of the right parietal bone (the unifocal form of Langerhans cell histiocytosis (LCH), type I, group A1, with the monoossal nature of lesion and with BRAFV600E mutation)." + pmids: + - "28791997" + - text: mutations were detected in 8 of the 18 adult Langerhans cell histiocytosis patients analysed. + pmids: + - "28421232" + - text: "Real-time PCR and pyrosequencing methods were equally excellent in determination of BRAF V600 mutations. The immunohistochemistry method, which is commonly used in routine pathology practice, can also be safely used as a screening test for determination of BRAF V600 mutations." + pmids: + - "28216139" + - text: The B-Raf inhibitor PLX4032 induces DR5 upregulation exclusively in Ras-mutant cancer cells; this effect is dependent on Ras/c-Raf/MEK/ERK signaling activation. + pmids: + - "27222248" + - text: RNA sequencing identified in both an AKAP9-BRAF gene fusion + pmids: + - "29464327" + - text: "a new somatic BRAF splicing mutation, was identified." + pmids: + - "28679432" + - text: RAS-ERK signaling in BRAF mutant melanomas is critical for regulating active chromatin state and recruitment of RNA polymerase II at mutant TERT promoters. Our study provides evidence that the mutant TERT promoter is a key substrate downstream of the RAS-ERK pathway. + pmids: + - "27911794" + - text: the presence of the BRAF (V600E) mutation may be negatively correlated with partial aggressive clinicopathological features of pediatric papillary thyroid cancer (PTC). + pmids: + - "28646474" + - text: "Vemurafenib, inhibiting BRAF signaling, shifted the balance of activatory and inhibitory NK ligands on melanoma cells and displayed immunoregulatory effects on NK-cell functional activities" + pmids: + - "28576831" + - text: We have found a higher incidence of axLN metastases in BRAF mutated NSCLC patients than described in non-BRAF mutated NSCLC patients. Examination of the axilla should be a routine part of physical examination in this genetically distinct subgroup of lung cancer patients. + pmids: + - "28625649" + - text: "Braf mutations served as biomarkers for response to anti-EGFR monoclonal antibodies in colorectal cancer.[review]" + pmids: + - "28576857" + - text: "BRAF mutation, rather than KRAS, was a significant prognostic factor in Korean colorectal cancer patients at both early and advanced stages." + pmids: + - "28583095" + - text: "The lack of KRAS, NRAS, BRAF, and PIK3CA mutation in our study may suggest that a subset of eyelid sebaceous carcinomas is unlike that of eyelid sebaceous carcinomas of western countries." + pmids: + - "28551389" + - text: "We show that rosiglitazone increases klotho and decreases Wnt5A in tumor cells, reducing the burden of both BRAF inhibitor-sensitive and BRAF inhibitor-resistant tumors in aged, but not young mice. However, when used in combination with PLX4720, tumor burden was reduced in both young and aged mice, even in resistant tumors" + pmids: + - "28232477" + - text: "A pointmutation located in exon 5 of the TP53 gene and a point mutation in exon 15 of the BRAF gene (c.1799T>A, V600E) were detected in an anaplastic thyroid carcinoma patient" + pmids: + - "27532222" + - text: "Authors tested the mutation-specific BRAF V600E monoclonal antibody (clone VE1) in formalin-fixed, paraffin-embedded LCH samples from 26 pediatric patients using allele-specific real-time polymerase chain reaction (PCR) with a limit of detection of 0.5% as the comparative gold standard." + pmids: + - "28219109" + - text: "KRAS mutations were rarely found together and those in codons 12 and 13 conferred poor prognosis. For BRAF, more c.1781A>G (p.D594G) colorectal cancers (CRC)carried RAS mutations [14% (3/21)] compared with c.1799T>A (p.V600E) CRCs.For NRAS, 5% (3/60) of codon 61 mutant colorectal cancers had KRAS mutations compared with 44% (10/23) of codons 12 and 13 mutant colorectal cancers" + pmids: + - "27815357" + - text: "Results indicate that in addition to being present in established BRAF-associated gliomas, BRAF mutations might be associated with epithelial features in high-grade gliomas, including sheet-like arrangement of polygonal tumor cells with a plump cytoplasm and astroblastic rosettes, and thus could potentially serve as a genetic marker for these features." + pmids: + - "27792249" + - text: the present study identifies the WIPF1 gene as having novel oncogenic functions and playing an important role in the invasiveness and aggressiveness of thyroid cancer when aberrantly up-regulated by the BRAF V600E/MAPK pathway through its promoter demethylation. + pmids: + - "27863429" + - text: BRAF mutation is associated with colonic neuroendocrine carcinoma. + pmids: + - "28940307" + - text: "c-Myc, a downstream key effector of BRAF(V600E) signaling, was required for BRAF(V600E)-induced changes in lysine27-trimethylated histone H3 through regulating the components of the polycomb repressive complex 2 (PRC2) genes Ezh2, Suz12 and Jarid2 at both transcriptional levels via direct binding to their regulatory elements and post-transcriptional levels via repressing the miR-26a, miR-200b and miR-155." + pmids: + - "28656062" + - text: Data show that depletion of SRY (sex determining region Y)-box 10 protein (SOX10) sensitizes mutant proto-oncogene proteins B-raf (BRAF) melanoma cells to RAF inhibitors in vitro and in vivo. + pmids: + - "29295999" + - text: mutations and expression might serve as independent adverse prognostic factors in melanoma + pmids: + - "29505523" + - text: "A panRAF inhibitor, LY3009120, potently inhibited proliferation and tumor growth in BRAF/KRAS mutated colorectal tumors." + pmids: + - "27999210" + - text: "In the coBRIM phase III trial, the addition of cobimetinib, an MEK inhibitor, to vemurafenib, a BRAF inhibitor, significantly improved progression-free survival [hazard ratio (HR), 0.58; P < 0.0001] and overall survival (HR, 0.70; P = 0.005) in advanced BRAF-mutated melanoma. Here, we report on the incidence, course, and management of key adverse events (AEs) in the coBRIM study" + pmids: + - "28444112" + - text: Report heterogeneity and frequency of BRAF mutations in primary melanoma samples. + pmids: + - "28039443" + - text: "Using a panel of BRAF V600E and WT colorectal cancer cell lines and in vitro selected resistant culture, and xenograft models, authors demonstrate here that BRAFV600E confers resistance to mTOR inhibitors." + pmids: + - "27351224" + - text: "Our model is trained to mimic the predictions of a 64-gene signature, the current definition of BRAF-positive group." + pmids: + - "28523274" + - text: "pediatric papillary thyroid carcinomas in Japan are characterized by more advanced clinicopathological features, lower BRAF (V600E) frequency, and absence of TERT mutation" + pmids: + - "28176151" + - text: CSF tumor-derived cell-free DNA has the potential to serve as a diagnostic tool in patients with BRAFV600 mutated malignancies. + pmids: + - "27863426" + - text: BRAF mutation is associated with response to chemotherapy in lung cancer. + pmids: + - "27165943" + - text: Mutation analysis Iindicate NRAS as the most commonly mutated gene in myeloma patients followed by KRAS ( and BRAF. + pmids: + - "27634910" + - text: Co-targeting translation and proteasome using the combination of Episilvestrol and Bortezomib promoted strong endoplasmic reticulum stress and rapid killing of colon cancer cells with KRAS/BRAF mutations. + pmids: + - "28030835" + - text: "Report targeted analysis of KRAS, BRAF and PIK3CA mutations in circulating tumor cells captured by a label-free platform and compare to expression in primary tumor tissue and metastases." + pmids: + - "27863403" + - text: "A rapid monophyletic evolution of melanoma subpopulations in response to targeted therapy that was not observed in non-targeted therapy was observed. NRAS mutations in BRAF mutated patient treated with a BRAF inhibitor were identified post-resistant samples. Sequence analysis showed that NRAS mutations co-occur with BRAF mutations in single cells, and are not mutually exclusive." + pmids: + - "27791198" + - text: "By shedding light on the repertoire of BRAF mRNA and protein variants, and on the complex regulation of their expression, our work paves the way to a deeper understanding of a crucially important player in human cancer and to a more informed development of new therapeutic strategies" + pmids: + - "28454577" + - text: This multicenter data analysis establishes a six-genotype genetic prognostic model for poor outcomes of papillary thyroid cancer with a risk order of genetic duet of BRAF V600E/RAS mutation and TERT mutation >>>>BRAF V600E = TERT mutation alone >RAS mutation alone = wild-type genes. + pmids: + - "27875244" + - text: "Despite a significant prevalence of BRAF mutation, more than 70% of hobnail variant of papillary thyroid carcinomas (HPTCs) in our series showed concurrent mutations of other genes such as TP53, PIK3CA, CTNNB1 and hTERT, in contrast to classic PTC." + pmids: + - "28062544" + - text: Mutational activation of BRAF confers sensitivity to TGFBR1 inhibitors in human melanoma cells. + pmids: + - "27835901" + - text: One way to potentially improve adoptive T cell therapy is to combine it with the administration of small molecule inhibitors. Vemurafenib specifically inhibits mutated BRAFV600E/K molecules and directs cell death of BRAFV600E/K expressing tumors + pmids: + - "28093487" + - text: "miR-579-3p controls melanoma progression and resistance to target therapy by targeting the 3'UTR of two oncoproteins: BRAF and MDM2." + pmids: + - "27503895" + - text: Durable (>/=3 years) survival is achievable with dabrafenib plus trametinib in patients with BRAF V600-mutant metastatic melanoma + pmids: + - "28475671" + - text: A high extent more than 25% of BRAF(V600E) alleles may be associated with disease outcome in PTC patients. + pmids: + - "27865374" + - text: "Study found that high expression of LC3B protein was associated with the presence of BRAF V600E mutation and temporal lesion in glioneuronal tumors, as well as in gangliogliomas alone. As for Beclin-1 protein, it showed statistically significant correlation with BRAF V600E mutation in glioneuronal tumors." + pmids: + - "28667867" + - text: We suggest that BRAF mutant patients should not be considered as having a unique biology and provide an in depth characterization of heterogeneous motifs that may be exploited for drug targeting. + pmids: + - "27354468" + - text: strong correlation between the presence of circulating V600 mutated DNA and overall survival of melanoma patients + pmids: + - "27194447" + - text: "The results establish a link between BRAF(V600E) and NOX4, which is confirmed by a comparative analysis of NOX4 expression in human (TCGA) and mouse thyroid cancers." + pmids: + - "27401113" + - text: PD-L1 expression in colorectal cancer is associated with microsatellite instability and BRAF mutations. + pmids: + - "27198569" + - text: Results indicate that MAPK pathway inhibition leads to changes in the immunological properties of mutant BRAF melanoma cells. + pmids: + - "26974965" + - text: Results show that promoter mutations render telomerase reverse transcriptase (TERT) expression dependent on MAPK signal pathway activation due to oncogenic BRAF or NRAS mutations. + pmids: + - "27449293" + - text: "Of these 6 patients, 3 had a BRAF mutation positive primary with a BRAF mutation negative metastatic lesion, while the other 3 had a BRAF mutation negative primary with BRAF mutation positive metastasis.There is an important discordance rate in the BRAF mutation status of melanoma primaries versus brain metastases." + pmids: + - "29310328" + - text: BRAFV600E mutations were associated with younger patient age and localization of melanoma on sun-protected areas of the skin. + pmids: + - "27433783" + - text: The BRAF V600 mutations were significantly associated with AQP1 expression (P=0.014). Long-term follow-up indicated a reduced progression-free survival (P=0.036) and overall survival (P=0.017) for the AQP1-positive cutaneous melanoma patients. + pmids: + - "26848795" + - text: "This study demonstrates that idiopathic pulmonary fibrosis-associated lung cancer (IPF-LC) is genetically characterized by the presence of somatic mutations reflecting a variety of environmental exposures on the background of specific germline mutations, and is associated with potentially targetable alterations such as BRAF mutations." + pmids: + - "28862766" + - text: "Study found that BRAF alterations are frequent in dysembryoplastic neuroepithelial tumors (DNTs), particularly BRAF copy number gain which is being reported for the first time in these tumors. Evidence of activation of mTOR and MAPK pathways suggests a role for altered signalling in DNT pathogenesis." + pmids: + - "27599148" + - text: Mutations in KRAS and BRAF were associated with inferior PFS and OS of mCRC patients compared with patients with non-mutated tumors. KRAS exon 2 mutation variants were associated with heterogeneous outcome compared with unmutated tumors with KRAS G12C and G13D (trend) being associated with rather poor survival + pmids: + - "27358379" + - text: The BRAF/MAP2K1-mut LCH cells had a more immature state than BRAF/MAP2K1-wt LCH cells. Authors also found the BRAFV600E and MAP2K1 mutations were significantly associated with pERK expression. + pmids: + - "27597420" + - text: Association of the Bethesda category with BRAF mutation can slightly improve the value of stage prediction in papillary thyroid cancer. + pmids: + - "28160058" + - text: "The results demonstrated the lack of activity of anti-EGFRs in RAS(KRAS and NRAS) and BRAF wild-type, right-sided tumors, thus suggesting a potential role for primary tumor location in driving treatment choices" + pmids: + - "27382031" + - text: "Findings of recurrent BRAF gene rearrangements in spindle cell sarcomas showing morphologic overlap with infantile fibrosarcomas expand the genetic spectrum of fusion-positive spindle cell sarcomas, to include unusual presentations, such as older children and adolescents and predilection for axial location." + pmids: + - "28877062" + - text: "Data show that long noncoding RNA RMEL3 is required for MAPK and PI3K signaling, and its knockdown decrease BRAFV600E melanoma cell survival and proliferation." + pmids: + - "27167340" + - text: "Data show that 514 of 1170 patients (44%) carried a BRAF mutation, and all models indicated age and histological subtype of melanoma as the two major predictive variables." + pmids: + - "27150060" + - text: Data indicate that BRAF inhibitor (BRAFi) have unique paradoxical ERK activation profiles. + pmids: + - "27028853" + - text: "these data highlight the poor prognosis of patients with metastatic melanoma and BM, despite a targetable 'driver' oncogene mutation(BRAFv600) and evidence of initial drug-responsiveness" + pmids: + - "27993793" + - text: BRAF-mutant advanced colorectal cancer ( aCRC) confers a markedly worse prognosis independent of associated clinicopathological features. Chemotherapy provides meaningful improvements in outcome throughout treatment lines. Post-progression survival is markedly worse and vigilance is required to ensure appropriate delivery of treatment after first-line progression + pmids: + - "27993800" + - text: "Case Reports: pediatric intracranial and cranial juvenile xanthogranuloma with BRAF V600E mutations." + pmids: + - "28504206" + - text: "Data indicate that BRAF, NRAS and C-KIT melanomas constitute distinct clinico-pathological entities." + pmids: + - "29187493" + - text: "Mutant BRAF may, in part, drive the histologic progression of colorectal adenomas toward serrated histology" + pmids: + - "26910894" + - text: "Case Reports: two cases of gliosarcoma harbouring the BRAF V600E mutation, of which one case appears to have arisen de novo, while the other likely arose from ganglioglioma." + pmids: + - "28775171" + - text: MC1R genotype is associated with patient phenotypes with BRAF and NRAS mutations in melanoma + pmids: + - "28842324" + - text: "Our data suggest that KRAS, NRAS, and BRAF mutations predict response to cetuximab treatment in metastatic colorectal cancer patients." + pmids: + - "26989027" + - text: "Tumor cell content was not associated with mutational rate for EGFR, BRAF and HER2 mutations. DNA quantity was not associated with mutational rate for EGFR, KRAS, BRAF and HER2" + pmids: + - "29175303" + - text: This study is the first to describe the BRAF (L597Q) mutation in malignant peripheral nerve sheath tumors and the first to implicate a BRAF mutation in neurofibroma biology + pmids: + - "29162506" + - text: DiRas3 binds to KSR1 independently of its interaction with activated Ras and RAF. + pmids: + - "27368419" + - text: "Combination BRAF and MEK inhibition has also been shown to improve overall survival in patients with V600E-mutated melanoma. Responses to therapy are often rapid, and treatment is not associated with immune-related adverse events." + pmids: + - "28561662" + - text: "BRAF mutations in the genomic DNA extracted from cancer cell lines were tested, allowing sensitive detection of SNM at very low abundances" + pmids: + - "28319896" + - text: "Study provides evidence of BRAF-KIAA fusion in disseminated glioneuronal lesions occurring in childhood and the first report of a BRAF V600E mutation in children with this disease, representing a potential therapeutic target." + pmids: + - "26994902" + - text: we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. + pmids: + - "28650561" + - text: Data suggest that activation of the metalloproteinase ADAM10 by signal peptide peptidase-like 3 (SPPL3) triggered by mutant BRAF(V600E) was a critical transformation event. + pmids: + - "28292959" + - text: These results provide support for the role of BRAF(V600E) in metastasis. + pmids: + - "27210749" + - text: Acquired BRAF V600E Mutation is associated with resistance to osimertinib in lung cancer. + pmids: + - "27923714" + - text: "FZR1 inhibits BRAF oncogenic functions via both APC-dependent proteolysis and APC-independent disruption of BRAF dimers, whereas hyperactivated ERK and CDK4 reciprocally suppress APC(FZR1) E3 ligase activity" + pmids: + - "28174173" + - text: BRAF mutation is associated with melanoma. + pmids: + - "28822769" + - text: "Mutations in KRAS, NRAS, and BRAF together occur in more than half of all colorectal cancer cases and are often associated with negative responses to the EGFR inhibitors cetuximab and panitumumab.guideline is clear that we should not be giving EGFR inhibitors to patients with RAS mutations and that patients with BRAF V600E mutations have a much worse prognosis" + pmids: + - "28249840" + - text: These findings identify a dynamic interplay between FZR1 and BRAF with strong implications for cell-fate determination and the tumor suppressor role of FZR1 + pmids: + - "28373167" + - text: KIT knockdown increased RAS/MAPK pathway activation in a BRAF(V600E)-mutant melanoma cell line. + pmids: + - "28947418" + - text: "Although BRAF(non-V600E) mutations identified were a rare and unestablished molecular subtype, certain BRAF(non-V600E) mutations might contribute to a lesser benefit of anti-EGFR monoclonal antibody treatment in patients with metastatic colorectal cancer" + pmids: + - "28972961" + - text: ARMC10-BRAF fusion is associated with melanoma. + pmids: + - "27864876" + - text: "BRAF gene mutation is confirmed by several studies found in malignant melanoma of the skin. The histopathology findings in our group did not confirmed our theory, that since the uveal melanoma itself has the similar origin as skin melanoma, should also contain a BRAF mutation." + pmids: + - "27860480" + - text: BRAF mutation is not associated with response to chemotherapy in Melanoma. + pmids: + - "28002643" + - text: the rate of BRAF mutation in Irish cohort (28.8%) was lower than international published rates of 40%-60%. + pmids: + - "28424234" + - text: Study identified BRAF mutations in 1.7% of Chinese patients with non-small-cell lung cancer and seems associated with adenocarcinoma. + pmids: + - "28135039" + - text: "MET amplification is here identified-clinically and preclinically-as a new mechanism of resistance to EGFR and BRAF dual/triple block combinations in BRAF-mutated colorectal cancer. Switching from EGFR to MET inhibition, while maintaining BRAF inhibition, resulted in clinical benefit after the occurrence of MET-driven acquired resistance." + pmids: + - "27325282" + - text: BRAF rearrangements were only found in myxoinflammatory fibroblastic sarcomas but not in hemosiderotic fibrolipomatous tumor lacking TGFBR3-MGEA5 fusions. + pmids: + - "28692601" + - text: "BRAF V600E mutation was detected in 6% of glomus tumors, all of which were malignant or glomus tumors of uncertain malignant potential. This mutation may be associated with a malignant phenotype." + pmids: + - "28834810" + - text: Adenocarcinomas or adenomas derived from pigmented ciliary epithelium is distinguished from uveal melanoma by the absence of SOX10 expression and presence of the BRAF V600E mutation. + pmids: + - "29059311" + - text: somatic KRAS mutations in polyps represent a potential molecular marker for the risk of developing advanced neoplasia + pmids: + - "28953955" + - text: This study is the first to report BRAF mutations in a pure adult sample of differentiated thyroid cancer of Saudi Arabian ethnicity. + pmids: + - "27387551" + - text: "No significant impact on prognosis was observed for mutated KRAS, NRAS, and PIK3CA genes or combined RAS mutations" + pmids: + - "27737711" + - text: BRAF mutations were not associated with an elevated risk for distant metastasis. + pmids: + - "29037127" + - text: ZNF767-BRAF fusion is associated with mucosal melanomas. + pmids: + - "28092667" + - text: "The expression of the nuclear and cytoplasmic forms of p16 represent two independent mechanisms, and both seemed to control proliferation in response to oncogenic stimuli, protecting the cell from malignant transformation in BRAF-mutated gastrointestinal stromal tumors." + pmids: + - "28034324" + - text: BRAF mutation is associated with papillary thyroid carcinoma. + pmids: + - "28423545" + - text: BRAF mutation was found to be associated with lymph node metastasis as first metastasis and sentinel lymph node positivity. BRAF and NRAS mutations were associated with CNS and liver metastasis and NRAS mutation with lung metastasis. + pmids: + - "28787433" + - text: BRAFV600E mutation is associated with astroblastoma. + pmids: + - "27416954" + - text: The association of BRAF mutations with clinical and pathological features was assessed next in a cohort of 840 KRAS exon 2 wild type CRC patients screened with the Real Time PCR assay. + pmids: + - "27261210" + - text: Bromodomain and extra-terminal (BET) inhibitors can suppress growth of BRAF-mutant colon cancer cells via repression of MAPK signaling pathway. + pmids: + - "28576751" + - text: findings should encourage the genetic evaluation of BRAF mutation. This study highlights the potential of RCM as a supplementary tool in the screening of BRAF-mutated melanomas + pmids: + - "28662062" + - text: Increased plasma membrane abundance of PMCA4b in vemurafenib-treated BRAF mutant cells is associated with enhanced Ca2+ clearance. + pmids: + - "27813079" + - text: Data indicate the role of immunohistochemical BRAF V600E expression in patients at the time of progression. + pmids: + - "27863476" + - text: "BRAF, FGFR1, and MYB mutations occur at high frequency and align with morphology of low-grade neuroepithelial tumors" + pmids: + - "26810070" + - text: "In this report, we describe a 35-year-old female who presented with multifocal ganglioglioma, involving both the conus medullaris and filum terminale. The dominant lesion in the filum terminale was resected, which revealed World Health Organization I grade, p53 mutant, and BRAF wildtype status" + pmids: + - "27671879" + - text: Studies indicate the clinical importance of BRAF-V600 mutations and BRAF inhibition in the progression to melanoma brain metastasis. + pmids: + - "27342756" + - text: IRP2 expression was associated with mutations in BRAF. + pmids: + - "28281325" + - text: "BRAF mutations were present in 44.6% of primary papillary thyroid carcinomas, 41.7% of lymph node metastasis, and 23.8% of distant metastasis." + pmids: + - "28323937" + - text: Mutation in BRAF gene is associated with Pancreatic Ductal Adenocarcinoma. + pmids: + - "28810144" + - text: "Patients with BRAF V600E PLGG exhibited poor outcomes after chemotherapy and radiation therapies that resulted in a 10-year progression-free survival of 27% (95% CI, 12.1% to 41.9%) and 60.2% (95% CI, 53.3% to 67.1%) for BRAF V600E and wild-type PLGG, respectively ( P < .001)." + pmids: + - "28727518" + - text: RNF43 germline and somatic mutation in Serrated Neoplasia pathway associated with BRAF mutation. + pmids: + - "27329244" + - text: a new BRAF fusion in pilocytic astrocytoma + pmids: + - "28448514" + - text: BRAF V600E mutation in capsular nevi of sentinel lymph nodes may be useful as an adverse predictive biomarker in patients with melanoma. + pmids: + - "27666765" + - text: Data show that combined therapy using HER2 inhibitor and BRAF/MEK inhibitor presented more significant redifferentiation effect on papillary thyroid cancer cells harboring BRAFV600E than BRAF/MEK inhibitor alone. + pmids: + - "28423638" + - text: "BRAF V600E mutations wereencountered in most metanephric stromal tumors, supporting a link with other metanephric tumors and suggesting a clonal event possibly affecting primordial renal cells." + pmids: + - "27769870" + - text: These findings identify a key mechanism of tolerance to Ras-Raf pathway inhibitors and suggest that blocking either AMPK or autophagy in combination with these targeted inhibitors could increase tumor regression and decrease the likelihood of eventual recurrence. + pmids: + - "27041569" + - text: Desmoplastic infantile astrocytoma/ganglioglioma with rare BRAF V600D mutation + pmids: + - "27860162" + - text: The results show that BRAF mutations are associated with a worse prognosis than expected in patients treated with FOLFIRI protocol plus bevacizumab compared with the BRAF wild-type population. + pmids: + - "28463756" + - text: We found a clinically meaningful discrepancy rate in BRAF status both between primary-metastatic and metastatic-metastatic melanoma lesions. + pmids: + - "28623774" + - text: Hypoxic postconditioning attenuates apoptosis via inactivation of adenosine A2a receptor through NDRG3-Raf-ERK pathway. + pmids: + - "28743501" + - text: Increased staining for phosphorylated ERK1/2 does not correlate to BRAF or KRAS mutations in colorectal neoplasms. + pmids: + - "27036313" + - text: "Our purpose was the evaluation of microsatellite stability status within conventional colon adenomas and also b-catenin, BRAFV600E and p53 contribution.we noted a 10% frequency of MSI events where MSI-H reached a 5% share occurred within the left colon and rectal polyps. b-catenin nuclear overexpression was noted with a 70% frequency and p53 with close to a 24% frequency." + pmids: + - "28234922" + - text: "Mutant BRAF represses E-cadherin expression, implicating a catalytic role for BRAF in epithelial-mesenchymal transition." + pmids: + - "26980024" + - text: "There was no statistically significant association between BRAF or MAP2K1 mutation and anatomic site, unifocal versus multifocal presentation, or clinical outcome in Langerhans cell histiocytosis." + pmids: + - "26980021" + - text: "Our data show that Signet ring cell colorectal cancer (SRCCa) phenotype comprises two distinct genotypes. The MSI(+)/CIMP(+)/BRAF V600E(+)/CD3(+)/PDL1(+) hypermethylated genotype is an ideal candidate for immune checkpoint inhibitor therapy. In addition, one fourth of SRCCa cases can potentially be targeted by KIT inhibitors." + pmids: + - "28595259" + - text: "Short-term treatment of nascent melanoma tumors with PAK inhibitors that block RhoJ signaling halts the growth of BRAF mutant melanoma tumors in vivo and induces apoptosis in melanoma cells in vitro via a BAD-dependent mechanism. As up to 50% of BRAF mutant human melanomas express high levels of RhoJ, these studies nominate the RhoJ-BAD signaling network as a therapeutic vulnerability for fledgling BRAF mutant human tumor" + pmids: + - "28753606" + - text: "Despite a high specificity for thyroid cancer, BRAF(V600E) mutation has a low overall sensitivity and therefore has a limited diagnostic value as a single screening test." + pmids: + - "27923591" + - text: "Aspirin use after colon cancer diagnosis was associated with improved overall survival in wild-type BRAF tumors. In contrast, aspirin use in BRAF mutated tumors was not associated with an improved survival." + pmids: + - "28125730" + - text: Alternative pathways through mutations in BRAF gene are associated with the progression of Colorectal polyps to cancer and may provide insights into the genetic characteristics of skirts. + pmids: + - "26808395" + - text: "Compared with newly diagnosed multiple myeloma, an increased prevalence of mutations in the Ras pathway genes KRAS, NRAS, and/or BRAF (72%), as well as TP53 (26%), CRBN (12%), and CRBN pathway genes (10%) was observed." + pmids: + - "27458004" + - text: IFNgamma inhibits CXCL8 secretion and in turn the migration of a BRAF V600e mutated thyroid cell line + pmids: + - "27555670" + - text: "Cdc37 performs a quality control of protein kinases, including b-raf, where induced conformational instability acts as a \"flag\" for Hsp90 dependence and stable cochaperone association." + pmids: + - "27105117" + - text: "The BRAF V600E mutation is now recognized as the causal genetic event of hairy cell leukemia because it is somatic, present in the entire tumor clone, detectable in almost all cases at diagnosis (encompassing the whole disease spectrum), and stable at relapse." + pmids: + - "27554081" + - text: Alternative genetic mechanisms of BRAF activation in Langerhans cell histiocytosis + pmids: + - "27729324" + - text: Angiogenic/cachectic and pro-inflammatory/immune response factors could play a crucial role in BRAF(V600E)-positive human anaplastic thyroid carcinoma aggressiveness. + pmids: + - "26189429" + - text: Morphometric variables are predictive markers for papillary thyroid carcinoma cases with positivity for BRAF V600 mutation. + pmids: + - "27911099" + - text: found that BRAF genotyping in weakly and moderately pigmented samples was more efficient when the sample was processed with BSA or purified with a NucleoSpin(R) gDNA Clean-up XS Kit prior to PCR amplification + pmids: + - "27466810" + - text: "BRAF or KRAS mutations are independently associated with shorter time to recurrence, shorter survival after relapse, and overall survival in patients with microsatellite-stable (MSS) subgroups, but not microsatellite-unstable tumors." + pmids: + - "28040692" + - text: "The BRAFV600E antibody (clone VE1) IHC may show non-specific staining, but molecular assays may be useful for the diagnosis of unicystic ameloblastoma, in conjunction with clinical, radiological and histopathological features." + pmids: + - "27084044" + - text: "Spitzoid neoplasms with BRAF fusion cases were most likely to have high-grade nuclear atypia, to be diagnosed as spitzoid melanoma, to have a positive result by melanoma fluorescence in situ hybridization assay, and to develop copy number gains in the kinase domain of the fusion protein." + pmids: + - "27776007" + - text: investigation of MGMT promoter methylation and in particular BRAF V600E mutations represent reliable additional tools to sustain differentiation of Giant Cell Glioblastoma (gcGBM) from Pleomorphic Xanthoastrocytoma (PXA) on a molecular basis. Based on these data specific BRAF kinase inhibitors could represent a promising agent in the therapy of PXA and their use should be emphasized. + pmids: + - "27253461" + - text: "these results suggest that SIRT6 enhances cell aggressiveness in PTC via BRAF/ERK/Mcl1 pathway, and thus may be a promising target in the treatment of the disease." + pmids: + - "28393212" + - text: Immunohistochemistry is an accurate method to evaluate BRAF proto-oncogene is papillary thyroid cancer. + pmids: + - "27919446" + - text: BRAF-positive thyroid cancers most often demonstrate worrisome sonographic features and are frequently associated with positive or suspicious Bethesda cytology. + pmids: + - "27689252" + - text: "Study of four cases confirms BRAF V600E mutation as a probable driver in a subset of ciliated muconodular papillary tumors (CMPT) of the lung, along with AKT1 mutation, which further supports that CMPT are indolent pulmonary neoplasms." + pmids: + - "27454941" + - text: BRAF protein mutation in metastatic lymph nodes maybe responsible for the recurrence of papillary thyroid carcinoma. + pmids: + - "27866718" + - text: These findings reveal a signaling basis underlying a pathogenic role of dietary fat in BRAF V600E-expressing melanoma. + pmids: + - "28089569" + - text: "Extrathyroid invasion, lymph node metastases, and BRAFV600E mutation were the high risk factors of papillary thyroid microcarcinoma." + pmids: + - "27936049" + - text: Our study provides a rationale to strengthen NK cell immunotherapy through a combination with cetuximab for RAS and BRAF mutant mCRC patients. + pmids: + - "27314237" + - text: BRAF mutation was significantly related with shorter DFS and OS among stage II/III CRC patients receiving adjuvant chemotherapy after curative resection + pmids: + - "27138801" + - text: Data suggest that HMGCS1 (HMG-CoA synthase 1) signals through ketogenesis/acetoacetate to promote cell proliferation and BRAF(V600E)-dependent MEK1 activation in BRAF(V600E)-positive melanoma and colon cancer cells; HMGCS1 co-localizes with HMGCL (HMG-CoA lyase) and BRAF(V600E) in cytosol of melanoma and colon cancer cells. (BRAF = proto-oncogene protein B-raf) + pmids: + - "28468827" + - text: "Thus, the quaternary structure of BRAF complexes is shaped by its activation status, the conformation of its kinase domain, and clinically relevant inhibitors." + pmids: + - "28093501" + - text: "A BRAF mutation, p.Val600Ala, was identified in 1 of 8,000 peripheral blood lymphocytes and 1 of 6,000 T lymphocytes from rheumatoid arthritis patients and in 1 of 12,500 peripheral blood lymphocytes and 1 of 12,500 T lymphocytes from controls" + pmids: + - "26814611" + - text: Results indicate that MLH1-hypermethylated BRAF wild-type colorectal carcinomas can harbor KRAS mutations and arise from precursor polyps resembling conventional tubular/tubulovillous adenomas. + pmids: + - "27438990" + - text: "The patients with traditional serrated adenoma showed KRAS and BRAF mutations in 58.4 and 8.3% of cases, respectively. Mutations of these genes were absent. The study revealed that the subtypes of serrated adenomas substantially differ by sex, age, localization, and molecular genetic characteristics" + pmids: + - "28295004" + - text: r-BRAF are very uncommon in papillary thyroid carcinomas (PTC) and are found almost exclusively in PTC with low-risk clinicopathological features. + pmids: + - "27571181" + - text: "(V600)BRAF switches on a metabolic reprogramming in melanoma cells, leading to a decreased OXPHOS activity and increased glycolytic ATP, lactate, HIF-1alpha and MCT4 levels." + pmids: + - "27542908" + - text: Data show that the expression of Interleukin-8 (IL-8) and connective tissue growth factor (CTGF) was significantly reduced by treatment with vemurafenib and trametinib in (V600E)BRAF protein melanoma cells. + pmids: + - "28067893" + - text: "The authors find that the interaction between sB-Raf and the Hsp90 chaperone system is based on contacts with the M domain of Hsp90, which contributes in forming the ternary complex with Cdc37 as long as the kinase is not stabilized by nucleotide." + pmids: + - "27620500" + - text: Data show that BRAF inhibitor (BRAFi) treatment failed to affect Nodal protein levels in melanoma tissues. + pmids: + - "27775691" + - text: BRAF V600E mutation is associated with cerebellar pilocytic astrocytoma recurring as a ganglioglioma. + pmids: + - "27718322" + - text: findings suggest an association of BRAF-V600E with parameters of a more aggressive behaviour of ameloblastoma + pmids: + - "27681305" + - text: Dabrafenib showed clinical activity in BRAF(V600E)-positive NSCLC. Our findings suggest that dabrafenib could represent a treatment option for a population of patients with limited therapeutic options + pmids: + - "27080216" + - text: "BRAF(V600E)-mediated MEK/ERK activation can upregulate MCL-1 by phosphorylation/stabilization to confer apoptosis resistance that can be reversed by MCL-1 antagonism combined with cobimetinib, suggesting a novel therapeutic strategy against BRAF(V600E)-mutant CRCs." + pmids: + - "27765849" + - text: "These findings demonstrate that the BRAF V600E mutation down-regulates levels of HMGB1, likely through activation of the mitogen-activated protein kinase (MAPK) signaling pathways." + pmids: + - "28342873" + - text: "Compared to some Asian populations, this study of Filipino papillary thyroid carcinoma patients shows a lower prevalence of BRAF V600E mutation" + pmids: + - "27568671" + - text: ndings indicate that BRAF V600E is not a consistent squarending in myopericytoma and does not serve as a useful diagnostic immunohistochemistry marker + pmids: + - "27870159" + - text: "ytoplasmic immunoexpression of BRAF V600E (VE1) protein was found in three specimens: serous superficial papilloma, serous papillary cystadenoma of borderline malignancy, and partially proliferative serous cystadenoma" + pmids: + - "28488545" + - text: BRAF mutation subclonality was associated with earlier disease stage in Papillary Thyroid Carcinoma. + pmids: + - "26835544" + - text: BRAF mutation is associated with melanoma. + pmids: + - "28268064" + - text: BRAF(V600)-mutation is associated with melanoma. + pmids: + - "27480103" + - text: BRAF(V600E)-mutation is associated with metastatic non-small cell lung cancer. + pmids: + - "27283860" + - text: "in response to vemurafenib, BRAF-mutated melanoma and colorectal cancer cells rapidly induced the ISR as a cytoprotective mechanism through activation of general control nonderepressible 2 (GCN2), an eIF2alpha kinase sensing amino acid levels" + pmids: + - "27965097" + - text: "This review highlights treatment options, including clinical trials for ROS1 rearrangement, RET fusions, NTRK1 fusions, MET exon skipping, BRAF mutations, and KRAS mutations." + pmids: + - "27912827" + - text: Incidence of adverse events was similar regardless of RAS/BRAF status. + pmids: + - "27764839" + - text: "the BRAF pathway is activated in endometriotic cells from patients with endometriosis, and inhibition of the BRAF pathway can significantly decrease proliferation in both epithelial and stromal endometriotic cells in vitro and in vivo" + pmids: + - "27087167" + - text: BRAF(V600)-mutation is associated with papillary thyroid cancer. + pmids: + - "27460442" + - text: BRAF V600E mutation is frequent in pulmonary Langerhans cell histiocytosis. + pmids: + - "28220299" + - text: "our studies show that BRAFNon-V600 mutations are not prognostic for stage IV melanoma patients, and this information will augment the design and interpretation of current and future clinical trials in this patient population." + pmids: + - "27911979" + - text: "Here we review the current knowledge about the classification of this tumor subtype and its association with five key features: mutation status of the BRAF or KRAS genes, the CpG island methylation phenotype, microsatellite instability, immune cell infiltration, and overexpression of GTPase RAC1b" + pmids: + - "27345584" + - text: No relation between oropharyngeal squamous cell carcinomas and BRAF gene mutations + pmids: + - "27888823" + - text: "BRAF mutations were not detected in any of the four IM cases examined. One patient with IM died from metastatic disease: this tumour was disomy 3 with 6p and 8q gains. All other patients were alive with no evidence of metastases at study closure." + pmids: + - "27098748" + - text: "using a kinase-inactive mutant of CK2alpha, that RAF-MEK inhibitor resistance did not rely on CK2alpha kinase catalytic function, and both wild-type and kinase-inactive CK2alpha maintained ERK phosphorylation upon inhibition of BRAF or MEK." + pmids: + - "27226552" + - text: "review focuses on the genes, which are frequently mutated in various cancers and are known to be important in the advance and progression of colorectal cancer and melanoma, namely KRAS, NRAS and BRAF" + pmids: + - "28074351" + - text: Alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- tumors originating via specific molecular pathways including the traditional adenoma-carcinoma pathway but not with BRAF+ tumors originating via the serrated pathway + pmids: + - "27943267" + - text: "BRAFV600E mutation significantly associated with nonsmall cell lung cancer in females and nonsmokers [meta-analysis]" + pmids: + - "28383426" + - text: BRAF mutations are rare events in KIT/PDGFRA wild-type gastrointestinal stromal tumors. + pmids: + - "28159677" + - text: we demonstrate that small molecule PERK inhibitors exhibit single agent efficacy against BrafV600E-dependent tumors highlighting the clinical value of targeting PERK + pmids: + - "27977682" + - text: Point mutations of BRAF is associated with thyroid cancer. + pmids: + - "27535135" + - text: Our findings indicate that BRAF and KRAS mutations as well as mutation heterogeneity predict poor outcome in CRC patients subsequent to liver resections and might help guide treatment decisions. + pmids: + - "26991344" + - text: "Report KRAS, NRAS, PIK3CA, and BRAF mutational profile in poorly differentiated clusters of KRAS-mutated colon cancer may depend on tumor histology." + pmids: + - "28025078" + - text: "BRAF mutations are closely associated with aggressive clinicopathological characteristics and poorer prognosis in papillary thyroid cancer. [meta-analysis]" + pmids: + - "27600854" + - text: functional analysis of human BRaf disease-linked mutations identified BRaf as the key missing signaling effector in the common synaptic NMDA-R-CaMKII-SynGap-Ras-BRaf-MEK-ERK transduction cascade. + pmids: + - "28404629" + - text: BRAF mutation is not associated with pheochromocytoma. + pmids: + - "26710756" + - text: "Mutations in BRAFV600E were significantly associated with worse survival after recurrence (SAR) in patients with recurrent stage III colon cancer, and worse SAR for BRAFV600E or KRAS mutant tumors was more strongly associated with distal cancers." + pmids: + - "28006055" + - text: we identify recurrent somatic BRAF alterations in high-grade colorectal NET and demonstrate rapid clinical improvement and tumor responses with a combination of BRAF- and MEK-directed therapies. + pmids: + - "27048246" + - text: "Findings suggest that the association of HER2 amplification with BRAF(V600E) mutation and telomere shortening may represent a marker of tumor aggressiveness, and, in refractory thyroid cancer, may warrant exploration as a site for targeted therapy." + pmids: + - "27775641" + - text: Braf and Kras genes mutation were reveled in gastritis and adenocarcinoma patients. + pmids: + - "27116958" + - text: High BRAF mutation rate is associated between primary colorectal cancer and corresponding metastases. + pmids: + - "28000889" + - text: The expression levels of BRAFV600E and NF-kappaB were significantly greater in thyroglobuiln antibody-positive than in thyroglobuiln antibody-negative papillary thyroid carcinoma patients. + pmids: + - "28214213" + - text: "BRAF V600E is the predominant mutation in Japanese non-chronically sun-damaged melanoma patients, and that both intra- and inter-tumor mutational heterogeneities exist in primary and metastatic melanomas." + pmids: + - "27771229" + - text: "multiregion analysis was performed in 60 spatially separated tumor areas according to the pathological tumor node metastasis (pTNM) staging and KRAS, NRAS and BRAF mutations were tested using pyrosequencing.these results suggest the need for multiple RAS testing in different parts of the same tumor and/or more sensitive techniques." + pmids: + - "27916952" + - text: BRAF mutations were detected in 54 of 115 (47 %) including 51 of V600E and 3 of V600 K in Japanese melanoma cases. + pmids: + - "27766572" + - text: The BRAFV600E mutation was significantly associated with central lymph node metastases in patients undergoing prophylactic central neck dissection when specifically controlling for preoperatively available clinicopathologic variables in all papillary thyroid cancer subtypes. + pmids: + - "26950846" + - text: "This study demonstrated the presence of BRAF V600E mutation in Chinese epileptic patients with Glioneuronal tumors, which was significantly correlated with gender and multiple seizure types." + pmids: + - "27984807" + - text: The rate of the BRAFV600E mutation increased significantly in papillary thyroid cancer diagnosed in Poland from 2000-2013 + pmids: + - "26889698" + - text: "The prognostic role of BRAF, PIK3CA mutations and ploidy in advanced CRC." + pmids: + - "27033063" + - text: BRAF IHC is strongly concordant with the BRAF mutation test. + pmids: + - "27197524" + - text: "The up-regulation of uPA mRNAs was correlated with high-risk clinicopathological features, including extrathyroid invasion, loss of cellular polarity/cohesiveness, and the BRAF(V600E) mutation." + pmids: + - "25085839" + - text: "The coexistence of BRAF or RAS mutations enhanced the prognostic effects of telomerase reverse transcriptase (TERT) promoter mutations. Furthermore, TERT promoter mutations strengthened the predictions of mortality and recurrence by the ATA and TNM staging systems, particularly for high-risk patients with differentiated thyroid cancer." + pmids: + - "26969876" + - text: Data suggest that genotyping for KRAS and BRAF mutation status is a gold standard for categorizing colorectal cancer (CRC) for clinical decisions. + pmids: + - "28179313" + - text: The BRAF was mutated in 55% (29/53) and NRAS in 11% (5/45) of the primary melanomas sequenced. + pmids: + - "27101548" + - text: Functional Na+/I- symporter activity was higher in BRAF(V600E) mutation-positive cases of classical variant papillary thyroid carcinoma + pmids: + - "27180062" + - text: "Growth arrest is accompanied by MAPK-mediated serine/threonine phosphorylation and suppression of a variety of oncogenic drivers that resist treatment by B-Raf(V600E) kinase inhibitors, including ErbB members, c-Met, IGFR, IRS, STAT3 and Akt." + pmids: + - "26959890" + - text: Erdheim-Chester Disease With Cardiovascular Involvement and BRAF V600E Mutation. + pmids: + - "27296272" + - text: The present cohort identifies that the classic architecture with multicentricity and local recurrence are correlates of BRAF (V600E) harboring pediatric papillary thyroid carcinomas + pmids: + - "26951110" + - text: The BRAF(V)(600E) mutation is also seen in paediatric cytology and the morphological features showed a high accuracy as both predictive mutational parameters and a helpful aid in management mainly of the aggressive BRAF(V)(600E) mutated carcinomas. + pmids: + - "27256275" + - text: The presence of BRAF mutation in fine-needle aspiration cytology specimens of nodular goitre may be useful in the assessment of oncological risk. + pmids: + - "26457492" + - text: The V600E mutation is associated with a risk of transformation to high-grade glioma and poor response to chemoradiation approaches and outcome. + pmids: + - "27659822" + - text: "HRM appears the less sensitive assay for the detection of BRAF V600 mutations. The RT-ASA, IdyllaTM and IHC assays are suitable for routine molecular diagnostics aiming at the prescription of anti-BRAF therapies" + pmids: + - "27111917" + - text: BRAF mutation is associated with thyroid neoplasms. + pmids: + - "26749005" + - text: genome analysis of wild-type gastrointestinal stromal tumors for mutations should include the BRAF gene in patients with KIT and PDGFRA wild-type gastrointestinal stromal tumors + pmids: + - "27864688" + - text: BRAF mutations occur frequently in testicular germ cell tumors. + pmids: + - "27085458" + - text: "BRAF(V600E) in papillary thyroid cancer predicts an increased risk of lymph node metastasis, extra-thyroidal extension and reduced disease-free survival. It is an additional useful prognostic biomarker." + pmids: + - "27138882" + - text: "Rare mutations in KRAS, NRAS, and BRAF oncogenes have been found in patients with melanoma and colorectal neoplasms." + pmids: + - "28091917" + - text: BRAF mutation and DNA mutation was associated with serrated polyps and hyperplastic polyps in the carcinogenesis of colorectal cancers. + pmids: + - "27930579" + - text: "Our data demonstrate that starvation-trigged autophagy, which is BRAF V600E dependent, promotes cancer cell survival in uveal melanoma. Vemurafenib induces autophagic cell death rather than adaptive cell survival in BRAF V600E-mutant melanoma." + pmids: + - "27928645" + - text: Combination of mutant-specific BRAF and CD117 ICC with cytopathology may facilitate the PTC-risk stratification in thyroid FNAB specimens. + pmids: + - "26240026" + - text: BRAF mutation is correlated with response to therapy in melanoma. + pmids: + - "27147251" + - text: NRAS and BRAF mutations are independent events and alternative molecular mechanisms in the primary oral mucosal melanoma tumorigenesis + pmids: + - "28134726" + - text: BRAF(V600E) mutation is a common genetic change in isolated hypothalamic-pituitary Langerhans cell histiocytosis. + pmids: + - "27760550" + - text: p16 and BRAFV600E are useful to distinguish between sporadic and hereditary (Lynch syndrome-related) microsatellite instable colorectal carcinomas + pmids: + - "27220764" + - text: Japanese patients with sporadic colorectal cancer with BRAF V600E mutation exhibited a significantly shorter overall survival. + pmids: + - "27672042" + - text: "A higher number of suspicious US features classified by the TIRADS, but not the BRAF mutation, are associated with lateral lymph node metastasis in patients with PTC, and can aid in the preoperative identification of patients at increased risk of lateral lymph node metastasis." + pmids: + - "27442672" + - text: "The additive effects given by gamma-secretase inhibitor to BRAF inhibitor are due to enhancement of induction of the senescent-like arrest, which is associated with decreased RB phosphorylation and CDK6 expression." + pmids: + - "27000992" + - text: "study suggests an influence of overweight BMI on the status of BRAF (V600E) in patients with PTC, whereas the underlying mechanism need to be further investigated" + pmids: + - "26733165" + - text: "This study, the largest on TERT mutation so far, demonstrates a significant role of BRAF V600E and TERT promoter mutations in the aggressiveness of papillary thyroid carcinoma, which is particularly robust and cooperative when the two mutations coexist." + pmids: + - "26943032" + - text: "One of the most cited proteins in melanoma is BRAF (about 50-60 % of melanomas harbors activating BRAF mutations), for these the most common is a substitution of valine to glutamic acid at codon 600 (p.V600E)[review]" + pmids: + - "26825657" + - text: "Results are the first to describe the presence of Wnt signaling pathway abnormalities, manifested by nuclear beta-catenin, in a subset, as well as the lack of BRAF(V600E) mutation in gliosarcoma." + pmids: + - "26932501" + - text: "BRAF-mutant lesions are consistently associated with poor prognosis. Consequently, the indications of colorectal liver metastasis resection in this patient group should be reconsidered." + pmids: + - "27630332" + - text: "Driver mutations are rare in mutational hotspots of BRAF, NRAS, KIT, and GNAQ/GNA11 in oral mucosal melanoma." + pmids: + - "26399561" + - text: "colorectal cancers with BRAF D594G mutations are similar to those with BRAF wild-type with regard to clinicopathological features, microsatellite instability status, and prognosis. However, colorectal cancers with BRAF D594G mutations are rare." + pmids: + - "27404270" + - text: KRAS mutations are not Associated with Metastatic Colorectal Cancer. + pmids: + - "26925650" + - text: BRAF mutations are associated with poor response to chemptherapy in Colorectal Peritoneal Carcinomatosis. + pmids: + - "26925640" + - text: "BRAFV600E status during melanoma progression was evaluated in a cohort of 54 patients with at least paired-samples. These findings suggest that only VE1-negative tumours would be genotyped to detect other BRAFV600 mutations, and that either primary melanoma or metastasis can be tested using immunohistochemistry, according to the material available." + pmids: + - "26695089" + - text: "BRAF mutation was frequently detected in younger patients, in thin melanomas, and in melanomas with less ulceration. As BRAF and NRAS mutations are rare in Taiwan, BRAF- or NRAS-targeted therapies may be effective only for selected Taiwanese melanoma patients." + pmids: + - "25767048" + - text: "our results suggest that the mutational spectrum of pediatric AF is more complex than in adult AF, being rich in AKT1 and BRAF, as well as CTNNB1 gene mutations." + pmids: + - "27062580" + - text: There is association between CpG island methylator phenotype and mutation of BRAF in patients with metastatic Colorectal cancer. + pmids: + - "27435270" + - text: "The incidence of conjunctival melanoma increased in Denmark over 50 years. The proportion of BRAF-mutated conjunctival melanoma was constant. BRAF mutations were identified as early events in conjunctival melanoma, associated with a distinct clinicopathological profile." + pmids: + - "27009410" + - text: BRAF-mutated traditional serrated adenoma (TSA) is distinct from KRAS-mutated TSA in predisposing to the acquisition of subsequent serrated neoplasia + pmids: + - "26496853" + - text: Chitosan nanoparticle-mediated BRAF siRNA interference evidently reduced the invasion capacity of gastric cancers. + pmids: + - "25794798" + - text: "For patients with non-small cell lung cancer with a EGFR mutation and an anaplastic lymphoma kinase mutation(ALK) with brain metastases, several agents have shown intracranial activity. Lapatinib has been tested for patients with brain metastases from breast cancer harboring a HER2 mutation. molecular targeted therapies have shown efficacy in BRAF-positive melanoma brain metastasis" + pmids: + - "27249714" + - text: BRAF-V600 mutation inconsistencies of up to 14.5% can be seen between the primary and metastatic foci in melanoma cases. These findings should be taken into account when planning targeted therapy and deciding on treatment responsiveness/unresponsiveness. + pmids: + - "26630683" + - text: "KRAS and, infrequently, BRAF mutations are observed in a subset of small intestinal adenocarcinomas, and are associated with higher pT classification and more frequent pancreatic invasion" + pmids: + - "26892442" + - text: BRAF mutation may have different prognostic implications in early- and late-stage colorectal cancer. + pmids: + - "27034263" + - text: BRAF(V600E) mutation is correlated with a lower expression of Na(+)/I(-) symporter in papillary thyroid carcinoma. + pmids: + - "26838744" + - text: "Both Glut1 and GLUT3 are strongly expressed by papillary thyroid carcinomas, and their expressions were significantly associated with the presence of the BRAF V600E mutation." + pmids: + - "26513490" + - text: BRAF mutation is associated with colon cancer. + pmids: + - "26799289" + - text: "Study found that BRAF alterations do not appear to play a prominent role in pediatric oligodendroglioma, and lack of BRAF fusions or BRAF p.V600E separate these tumors from several other pediatric low-grade gliomas" + pmids: + - "26206478" + - text: "Data indicate that BRAFV600E, P-cadherin and cadherin 6 protein expressions were correlated with one another." + pmids: + - "26285159" + - text: BRAF(V600E) status may help to predict clinical outcome of PTC. + pmids: + - "25213729" + - text: "These results revealed differences in the genetic profiles of KRAS, NRAS, PIK3CA and BRAF at mutation hotspots between Chinese CRC patients and those of Western countries." + pmids: + - "26691448" + - text: "Our results indicate that the mutations of BRAF and KIT exist in Japanese melanoma patients, however, the cell growth signaling may be regulated by not only these mutated genes, but by other unknown regulatory factors, which may affect the prognosis of melanoma." + pmids: + - "25766129" + - text: KRAS and BRAF mutation analysis could be used in the selection of patients for anti-EGFR therapy. + pmids: + - "25267307" + - text: "Data show that Griffipavixanthone (GPX), a dimeric xanthone isolated from Garcinia esculenta, is a B-RAF and C-RAF inhibitor against esophageal cancer cells." + pmids: + - "26646323" + - text: Thus ERK5 signaling is unlikely to play a role in tumor cell proliferation downstream of KRAS or BRAF or in tumor cells with ERK5 amplification. These results have important implications for the role of ERK5 as an anti-cancer drug target + pmids: + - "26959608" + - text: "Our findings present EBI-907 as a potent and promising BRAF inhibitor, which might be useful in broader indications." + pmids: + - "26810733" + - text: "NRAS codon 61 is the most frequent genetic alteration in this acromegaly series with Differentiated Thyroid Cancer . Since acromegalic patients have lower prevalance of BRAF V600E mutation, BRAF V600E mutation may not be a causative factor in development ofDifferentiated Thyroid Cancer in acromegaly." + pmids: + - "26575115" + - text: Studies suggest that the role of tumor biomarker V600E mutation of the BRAF proto-oncogene to detect or exclude cancers in patients with fine-needle aspiration (FNA) reports is marginal and should be reconsidered in guidelines. + pmids: + - "25920006" + - text: Results indicated that rs3748093*A single nucleotide polymorphisms (SNPs) of BRAF proto-oncogene (BRAF) was significantly correlated with an increased risk of papillary thyroid carcinoma (PTC) in a Chinese population. + pmids: + - "25916409" + - text: "Braf mutations were extremely rare in pancreatic cancer, suggesting that they play a limited role in PC development.[review]" + pmids: + - "26927447" + - text: Proto-Oncogene Proteins B-raf V600E mutation analysis is considered to be the most useful diagnostic tool for differentiating hairy cell leukemia from related lymphomas. + pmids: + - "25729732" + - text: The findings suggest that the presence of the BRAFV600E mutation and loss of p16 expression accelerate the growth rate of melanomas in vivo leading to larger melanocytes that are more frequently arranged in nests. + pmids: + - "26613644" + - text: "With respect to diagnostic potential, results obtained using the BRAF(V) (600E) mutation test combined with cytological examination were not significantly different from those obtained with cytological examination only." + pmids: + - "25988212" + - text: Data suggest that core-needle biopsy (CNB) + B-Raf proto-oncogene protein BRAF(V600E) mutation analysis can reduce rates of preventable diagnostic surgery. + pmids: + - "26215382" + - text: "The diagnostic classifier based on profiling of 13 microRNAs was proposed, with total estimated accuracy varying from 82.7 to 99% for different nodule types. Relative expression of six microRNAs appeared significantly different in BRAF(V600E)-positive samples compared to BRAF(V600E)-negative papillary carcinoma samples" + pmids: + - "26960768" + - text: BRAF (V600) -mutation is associated with metastatic melanoma. + pmids: + - "26208946" + - text: This study discovered oncogenic BRAF deletions with a distinct activation mechanism dependent on the BRAF dimer formation in tumor cells. + pmids: + - "26732095" + - text: "Langerhans cell histiocytosis and Erdheim-Chester disease, both with cutaneous presentations, and papillary thyroid carcinoma all harboring the BRAF(V600E) mutation." + pmids: + - "26454140" + - text: BRAF V600E inhibition stimulates AMP-activated protein kinase-mediated autophagy in colorectal cancer cells. + pmids: + - "26750638" + - text: BRAFK601E mutant thyroid tumors show better clinical outcomes than BRAFV600E positive tumors + pmids: + - "26422023" + - text: Data show that dasatinib induced DNA damage and activated DNA repair pathways leading to senescence only in the kinase-inactivating BRAF kinase (BRAF) mutations (KIBRAF) non-small cell lung cancer (NSCLC) cells. + pmids: + - "26623721" + - text: mutation is associated with distinct clinical and histopathologic features of colonic carcinomas + pmids: + - "25710585" + - text: BRAF V600E mutation predisposes papillary thyroid carcinoma cells toward invasive phenotypes + pmids: + - "26912807" + - text: "Positive status of BRAF(V600E) mutation was a significant predictor of multifocality (OR = 1.23; 95%CI = 1.14-1.32), extrathyroidal extension (OR = 2.23; 95%CI = 1.90-2.63), TNM stage (OR = 1.67; 95%CI = 1.53-1.81), lymph node metastasis (OR = 1.67; 95%CI = 1.45-1.93), vascular invasion (OR = 1.47; 95%CI = 1.22-1.79) and recurrence/persistence (OR = 2.33; 95%CI = 1.71-3.18) of Papillary Thyroid Carcinoma." + pmids: + - "26871894" + - text: "BRAF mutational status correlates with recurrence of papillary thyroid microcarcinoma [review; meta-analysis]" + pmids: + - "26671072" + - text: "TERT promoter mutations have a limited role in pediatric thyroid carcinoma, but the BRAFV600E mutation may have a role in recurrence in pediatric patients" + pmids: + - "26711586" + - text: "Twenty-three percent of patients with V600E- and 43% of patients with K601E-mutant melanomas presented with nodal disease at diagnosis compared to just 14% of patients with BRAF wild-type tumors (P = 0.001 and 0.006, respectively). Overall, these mutations represent a significant minority of BRAF mutations, but have distinct clinicopathological phenotypes and clinical behaviors." + pmids: + - "26643848" + - text: BRAF V600E-mutation is associated with response to therapy in glioma. + pmids: + - "26384810" + - text: BRAF mutation is associated with melanoma. + pmids: + - "26678033" + - text: the V600E BRAF mutation occurred in about half of melanoma patients; it was associated with earlier manifestation of melanoma and likely with more aggressive clinical features. + pmids: + - "26600396" + - text: BRAF V600E mutation is associated with resistance to pazopanib in gastroenteropancreatic neuroendocrine tumors. + pmids: + - "26684240" + - text: Data show that B-Raf proto-oncogene (BRAF) V600E mutation was identified in 4 of 27 thyroid nodule patients with isthmic lesion. + pmids: + - "26190162" + - text: "BRAF testing is a useful adjunct to improve PPV for patients with \"suspicious for PTC\" cytology." + pmids: + - "24989827" + - text: BRAF mutations in cfDNA are detectable in >75% of late-stage melanoma patients with BRAF mutation-positive tumors. + pmids: + - "26446943" + - text: "It was suggested that somatic point mutations in BRAF, CDKN2A and PI3KCA do not participate in the oncogenesis of Medullary thyroid carcinoma" + pmids: + - "26718898" + - text: "Specific inhibition of BRAF oncogene, MEK or p38 signaling was associated with decreases in DIO3 expression in papillary thyroid cancer cells" + pmids: + - "26825960" + - text: We demonstrated that the BRAF (V600E) mutation slightly correlated with the clinicopathological characteristics of papillary thyroid cancer in the Han population + pmids: + - "26823860" + - text: BRAF mutations are associated with Papillary Thyroid Cancer. + pmids: + - "26259532" + - text: Levels of BRAF(mutant) and NRAS(mutant) ctDNA were determined using droplet digital PCR (ddPCR) assays. Among patients with samples available prior to treatment initiation ctDNA and LDH levels were elevated in 12/15 (80%) and 6/20 (30%) (p = 0.006) patients respectively + pmids: + - "26440707" + - text: "four cases harbored the BRAF-V600E mutation, one case harbored the BRAF-G606R mutation, and three cases harbored deletions in exon 19 of EGFR" + pmids: + - "26718882" + - text: BRAF mutations are associated with response to therapy in metastatic colorectal cancer. + pmids: + - "26775732" + - text: "olfactory neuroepithelial progenitor cells with the genetic heritage of bipolar I disorder were more sensitive to glutamate induced apoptosis. Under expression of the BRAF gene and protein, which plays a role in regulating the pro-survival MEK/ERK signaling pathway, may contribute to this apoptotic sensitivity." + pmids: + - "26753950" + - text: "Data indicate that among classic and follicular variant papillary thyroid carcinomas (PTCs), mutation of proto-oncogene protein B-raf (BRAF(V600E)) was significantly associated with the smaller size." + pmids: + - "26584635" + - text: BRAF V600E mutations were found in the papillary craniopharyngiomas subgroup and were not detectable in papillary craniopharyngiomas samples. + pmids: + - "26927026" + - text: "Case Report: melanoma with BRAF mutation in circulating cell-free DNA despite no detectable mutation in the primary lesion." + pmids: + - "26123241" + - text: "Clinical data suggest that BRAF mutations define specific subsets of patients with NSCLC; while their oncogenic nature is yet to be established in lung cancer, especially for non-V600E mutations, the value of BRAF mutations to predict the efficacy of targeted agents remains unclear." + pmids: + - "26711930" + - text: "TERT promoter mutation is an independent predictor for distant metastasis of thyroid neoplasms, but ALK testing is not useful for clinical decision-making in Korean patients with a high prevalence of the BRAF V600E mutation." + pmids: + - "26857243" + - text: New and highly sensitive method to detect BRAF V600 mutations in Langerhans cell histiocytosis. + pmids: + - "27094161" + - text: Findings suggested that BRAF-activated noncoding RNA may contribute to hepatocellular carcinoma initiation and progression. + pmids: + - "26758762" + - text: BRAFV600E Mutation Status in obese Patient is associated with Papillary Thyroid Cancer. + pmids: + - "26215201" + - text: BRAF Mutations are associated with Lung Adenocarcinoma. + pmids: + - "26202550" + - text: Chronic lymphocytic thyroiditis was an independent predictor for less aggressiveness in conventional papillary thyroid carcinoma patients regardless of BRAF mutation status. + pmids: + - "26598713" + - text: "use of sorafenib has been ineffective in the management of advanced Colorectal cancer (CRC) patients with KRAS mutation, combination of selective BRAF inhibitors plus EGFR inhibitors may represent a good therapeutic strategy in BRAF-mutant CRC." + pmids: + - "26616508" + - text: "Recent reports show a significant radiosensitization of the irradiated healthy tissue in patients with melanoma after the combination of radiotherapy and BRAF(V600) inhibitors, evoking concern in clinical practice" + pmids: + - "26616061" + - text: Monoclonal antibody VE1 immunohistochemistry predicts BRAF V600E mutation status and clinical outcome in colorectal cancer. + pmids: + - "26496026" + - text: presence of BRAF mutations in melanoma associated with younger age + pmids: + - "26282084" + - text: Data suggest that combination of proto-oncogene protein B-raf (BRAF) and mTOR serine-threonine kinase (mTOR) inhibition forms the basis of a treatment regimen of thyroid cancer. + pmids: + - "26284586" + - text: TRAP1 is a downstream effector of BRAF cytoprotective pathway in mitochondria and TRAP1 targeting may represent a novel strategy to improve the activity of proapoptotic agents in BRAF-driven CRC cells. + pmids: + - "26084290" + - text: BRAFV600 mutations are associated with response to BRAF inhibitors in metastatic melanoma. + pmids: + - "26498143" + - text: Data indicate that tumors with proto-oncogene proteins BRAF or KRAS mutations were in correlation with elevated serum level of carbohydrate antigen (CA19-9) and carcinoma embryonic antigen (CEA). + pmids: + - "26530529" + - text: "Among 33 BRAF wild-type colorectal carcinomas, 16 had no or weak staining, whereas 15 (45%) had heterogeneous staining. In contrast with colorectal carcinoma, Bond and Ventana VE1 IHC in melanoma and PTC were highly concordant with sequencing results" + pmids: + - "26438153" + - text: "combined pan-RAF and MEK inhibition can overcome intrinsic and acquired resistance to single-agent RAF/MEK inhibition, supporting dual pan-RAF and MEK inhibition as a novel therapeutic strategy for BRAF- and KRAS-mutant cancers" + pmids: + - "26351322" + - text: "BRAF V600E mutation is associated with differentiating Rathke's cleft cyst with squamous metaplasia from papillary craniopharyngioma." + pmids: + - "25820214" + - text: BRAF mutation is associated with poor response to cetuximab in colorectal carcinoma. + pmids: + - "26512781" + - text: Cooperation of BRAF(F595L) and mutant HRAS is associated with histiocytic sarcoma. + pmids: + - "26582644" + - text: "In three cases of papillary carcinoma arising in struma ovarii (PSCS), novel BRAF and KRAS mutations were identified in two of three tumors suggesting that mutations in PCSO may differ from those commonly identified in papillary carcinoma of the eutopic thyroid." + pmids: + - "26362194" + - text: beta3-alphaC deletions are activating mutations in BRAF. BRAF deltaNVTAP confers CRAF- and dimer-independent activity and is resistant to vemurafenib. + pmids: + - "26996308" + - text: "According to results, oral benign peripheral nerve sheath tumours have a low LOH rate, but P53 locus alteration is occasionally found. Additionally, BRAF V600E mutation is either not relevant to the molecular pathogenesis of this group of lesions of the oral cavity, or may occur at very low rates." + pmids: + - "26075701" + - text: "The BRAF-mutated Colorectal Cancers ,in comparison to KRAS-mutated ones, are associated with a much worse prognosis for the afflicted patients." + pmids: + - "27082577" + - text: "PIK3CA mutations were observed in 32% (8) of the 25 breast cancer tissues examined, Sequencing of exon 2 of KRAS suggested that 20% (5) of the 25 samples harbored a mutation and 16% (4) of BRAF harbored a mutation." + pmids: + - "26600545" + - text: "Letter: report frequent BRAF V600E mutations in metanephric stromal tumors." + pmids: + - "26796506" + - text: RAS and BRAF wild-type status could help select an elderly and unfit population that could benefit from anti-epidermal growth factor receptor single agent therapy. + pmids: + - "26446234" + - text: BRAF mutation in pilocytic astrocytoma is associated with a more diffuse growth pattern but does not confer a more aggressive clinical behavior + pmids: + - "25066317" + - text: the prevalence and clinicopathological associations of BRAF V600E and TERT promoter mutations in Chinese PTC patients + pmids: + - "27064992" + - text: "AKT3 has a role in prostate cancer proliferation through regulation of Akt, B-Raf, and TSC1/TSC2" + pmids: + - "26318033" + - text: A constitutive active MAPK/ERK pathway due to BRAFV600E mutation positively regulates aryl hydrocarbon receptor pathway in papillary thyroid carcinoma. + pmids: + - "26392334" + - text: BRAF V600E-mutated microcarcinomas represent a distinct biological subtype + pmids: + - "26271724" + - text: "MC1R status is associated with BRAF(V600E), BRAF(V600K), and NRAS mutations in cutaneous melanomas" + pmids: + - "26807515" + - text: results reveal a common BRAF(V600E)-directed transcriptional regulatory pathway that mediates epigenetic silencing in unrelated solid tumors and provide strong support for an instructive model of oncoprotein-directed epigenetic silencing + pmids: + - "26787892" + - text: BRAF-V600E expression in primary nodular melanoma is associated with aggressive tumour features. + pmids: + - "26924424" + - text: that BRAF sequencing has been used to discriminate between dedifferentiated papillary thyroid carcinoma and tumor to tumor metastasis + pmids: + - "26521063" + - text: "BRAF, NRAS and KRAS gene mutations in plasma cell dyscrasias may have a role MEK-ERK pathway activation" + pmids: + - "26090869" + - text: Studies indicate that concurrent inhibition of proto-oncogene protein B-raf (BRAF) and Map kinase kinase (MEK) improved the most effective therapeutic modality as compared as single BRAF or MEK inhibition for patients with metastatic melanoma (MM). + pmids: + - "26143635" + - text: "BRAF mutation is frequent in early-onset colorectal cancer in Taiwan and is associated with a poorly differentiated histology, a serrated precursor polyp, focal signet ring cell differentiation, lack of microsatellite instability and a poor prognosis." + pmids: + - "26500331" + - text: Low incidence of BRAF mutations in adenocarcinomas of the ampulla of Vater suggest no major role in tumorigenesis. + pmids: + - "26997442" + - text: BRAF inhibitor therapy-associated melanocytic lesions lack the BRAF V600E mutation and show increased levels of cyclin D1 expression. + pmids: + - "26997441" + - text: Actin remodeling confers BRAF inhibitor resistance to melanoma cells through YAP/TAZ activation + pmids: + - "26668268" + - text: The lesions designated as KAs and BRAF inhibitor-associated verrucous keratoses had a similar mutational profile. + pmids: + - "26319365" + - text: The rate of the BRAF V600E mutation in the pediatric population with papillary thyroid carcinoma is significantly lower than that seen in the adult population + pmids: + - "26910217" + - text: "Apart from BRAF V(600)E, no other recurrent somatic mutation was identified in these hairy cell leukaemia exomes, thereby excluding additional acquired mutations as also prevalent at a near-universal frequency in this form of the disease." + pmids: + - "26871591" + - text: "BRAF(V600E) mutation induces MGL ligand expression, thereby providing a direct link between oncogenic transformation and aberrant expression of immunosuppressive glycans in colorectal neoplasms." + pmids: + - "26172302" + - text: Findings suggest that triple therapy directed against BRAF/MEK/ErbB3 may be able to provide durable control of BRAF mutated metastatic melanoma. + pmids: + - "26208478" + - text: Patients with multifocal PTC whose largest tumor is BRAF-negative can have smaller tumors that are BRAF-positive. + pmids: + - "26448939" + - text: BRAF was a significant parameter for predicting multifocality in follicular variant of papillary thyroid carcinoma. + pmids: + - "24909403" + - text: "This study demonstrated that when whole chromosome 7 gain accompanies the KIAA1549-BRAF fusion, the fusion likely arises first." + pmids: + - "26945035" + - text: Mutated BRAF mutant protein was detected in 53% of the bile duct adenomas and in none of the cases of bile duct hamartomas + pmids: + - "25704541" + - text: The significant association of SLP-2 overexpression with unfavorable clinicopathological characteristics and BRAFV600E mutation indicates that SLP-2 may have a role in aggressiveness of BRAF-mutated papillary thyroid carcinoma. + pmids: + - "26750533" + - text: "No BRAF V600E mutations were seen in this cohort of non-infiltrative, non-invasive follicular variant of papillary thyroid carcinoma" + pmids: + - "25736029" + - text: BRAF mutations are associated with metastatic colorectal cancer. + pmids: + - "26153495" + - text: The BRAF mutation was significantly associated with persistence/recurrence and a potential predictor in patients with classical PTC >10 mm at a BRAF mutation prevalent area + pmids: + - "24838814" + - text: identification of 7 BRAF-induced genes that are specific for BRAF V600E-driven papillary thyroid carcinoma. + pmids: + - "26625260" + - text: "Case Report: BRAF kinase domains are a clinically important genomic alteration and therapeutic target." + pmids: + - "26562024" + - text: BRAF mutation is not associated response to chemotherapy in melanoma. + pmids: + - "25749811" + - text: "Conclude that PRIMA-1(Met) through its ability to directly reactivate p53, sensitises (V600E/K)BRAF-positive melanoma cells to BRAF inhibitors." + pmids: + - "26790143" + - text: "The patient's resected brain tumor is BRAF V600E mutated, NRAS wild type (WT), and TERT C250T mutated. The patient is a carrier of germline variants in immunomodulatory loci associated with prolonged survival." + pmids: + - "26597176" + - text: "The vast majority of these tumors harbor the oncogenic BRAF V600E mutation. [review]" + pmids: + - "26563980" + - text: "Case Report: erythematous rash as a result of BRAF inhibitor therapy in advance melanoma." + pmids: + - "26381028" + - text: BRAFV600E expression in melanocytes induces Schwannian differentiation in vivo + pmids: + - "26036358" + - text: "Data indicate that mutations in PTEN phosphatase A167T and NRAS protein Q61L, and proto-oncogene protein BRAF V600E were detected in melanoma cell line." + pmids: + - "26562020" + - text: "KRAS and BRAF oncogenes have roles in colorectal cancer development and therapy resistance [review]" + pmids: + - "26299805" + - text: BRAF V600E mutation in non-tumoral surrounding tissue in patients with colorectal cancer may be used as a valuable marker to foresee clinical outcome or a possible recurrence. + pmids: + - "26359417" + - text: BRAF Mutation is associated with response to therapy in Advanced Melanoma. + pmids: + - "26426340" + - text: The determination of BRAF mutational status is recommended in any cystic sellar lesion and can in most cases be provided by VE1 immunohistochemistry even in specimens of low cellularity. + pmids: + - "25442675" + - text: B-Raf(V600E) mutation in metastatic melanoma cells up-regulated tissue factor expression on cell membranes and promoted thrombin production + pmids: + - "26504080" + - text: "BRAF mutations are infrequent, whereas C-KIT and NRAS mutations are seen with higher frequency in vulvar melanomas than melanomas of other sites." + pmids: + - "26225944" + - text: "BRAF mutations seem to occur exclusively in the epithelial, but not in the stromal component" + pmids: + - "26306423" + - text: "These results identify Rnd3 as a regulator of cross talk between the RAF/MEK/ERK and Rho/ROCK signaling pathways, and a key contributor to oncogene-mediated reorganization of the actin cytoskeleton and focal adhesions." + pmids: + - "18045987" + - text: Cdk1/cyclin B has a role in regulating B-raf activation at mitosis + pmids: + - "18434602" + - text: the scaffold protein IQGAP1 couples Ca(2+) and calmodulin signaling to B-Raf function + pmids: + - "18567582" + - text: "proliferation of cells harboring mutations in B-Raf, but not K-Ras, is exquisitely sensitive inhibition of the MAPK pathway" + pmids: + - "19378335" + - text: B-Raf/MKK/ERK provides a permissive environment for melanoma genesis by modulating plexin B1. + pmids: + - "19483722" + - text: "Data show that melanoma cells expressing B-Raf(V600E) display a reduced C-Raf:B-Raf ratio, and further suppression of C-Raf increases MAPK activation and proliferation." + pmids: + - "19917255" + - text: "These data demonstrate a high prevalence of B-RAF mutations in the present study population, underscoring the possibility of strong regional differences." + pmids: + - "20460314" + - text: Mutant protein kinase elicits significant therapeutic responses in mutant BRAF-driven human melanoma xenografts. + pmids: + - "20807807" + - text: The (600DLAT)B-RAF and (V600E)B-RAF mutations were found enriched in DNA and mRNA from the CD1a+ fraction of granuloma. + pmids: + - "22506009" + - text: It was shown that the dimer interface within the kinase domain plays a pivotal role for the activity of B-Raf and several of its gain-of-function mutants. + pmids: + - "22510884" + - text: It was concluded that extracellular kinase-mediated up-regulation of c-myc by K-Ras or B-Raf oncogenes disrupts the establishment of apical/basolateral polarity in colon epithelial cells independently of its effect on proliferation. + pmids: + - "22826122" + - text: Oncogenic B-RAF(V600E) signaling induces the T-Box3 transcriptional repressor to repress E-cadherin and enhance melanoma cell invasion. + pmids: + - "23190890" + - text: elevated pERK expression occurs in urothelial carcinoma in the absence of B-Raf mutations and is not correlated with FGFR3 over-expression + pmids: + - "19404844" + - text: Expression of active mutants of B-Raf induces fibronectin. + pmids: + - "16960555" + - text: The high-resolution melting method developed was shown to be a reliable method for BRAF mutation detection + pmids: + - "24859998" + - text: Colorectal poorly differentiated neuroendocrine carcinomas frequently harbor BRAF mutations and are associated with poor overall survival. + pmids: + - "26826419" + - text: BRAF mutation is playing an important role in the pathogenesis of pyogenic granuloma. + pmids: + - "26802240" + - text: "Two cases of classic HCL, 1 showing CD5 expression, were truly BRAF V600E-negative based on negative results by PCR and sequencing despite high-level leukemic involvement" + pmids: + - "24503706" + - text: BRAF mutation is associated with melanoma. + pmids: + - "26353041" + - text: "Results revealed that in patients with papillary thyroid microcarcinoma (PTMC), BRAF mutation is associated with tumor size, multifocality and aggressive features and may be used as a predictive factor for prognosis of PTMC. [meta-analysis]" + pmids: + - "26223933" + - text: Report BRAF V600 mutation detection in a large cohort of clinical samples of cutaneous melanoma metastases to the lymph nodes. + pmids: + - "26339422" + - text: "BRAF fusions are rare driver alterations in a wide variety of malignant neoplasms, but enriched in Spitzoid melanoma, pilocytic astrocytomas, pancreatic acinar and papillary thyroid cancers." + pmids: + - "26314551" + - text: "Studies indicate that more than half of all Erdheim-Chester disease (ECD) patients carry the proto-oncogene protein B-raf mutation BRAF(V600E) and treated with vemurafenib, a BRAF inhibitor, which has proven highly beneficial." + pmids: + - "26197238" + - text: "BRAF and KRAS mutations show together a high prevalence in stage II and III MSI colon cancer and, when combined, are associated with poor survival compared to dWT cancers, which status confers an excellent cancer-specific survival." + pmids: + - "26376292" + - text: Systems Analysis of Adaptive Responses to MAP Kinase Pathway Blockade in BRAF Mutant Melanoma. + pmids: + - "26405815" + - text: Report BRAF mutations and PD-L1 expression in disseminated histiocytoses. + pmids: + - "26110571" + - text: Report BRAF mutations in selected cohort of patients with pulmonary metastases of malignant melanoma and prognostic implications. + pmids: + - "26305188" + - text: This study sought to investigate the correlations of V-raf murine sarcoma viral oncogene homolog B1 (BRAF) gene mutations with the clinicopathologic features of papillary thyroid carcinoma + pmids: + - "26214416" + - text: "Case Report: combined \"infiltrating astrocytoma/pleomorphic xanthoastrocytoma\" harboring IDH1 R132H and BRAF V600E mutations." + pmids: + - "26414224" + - text: "Cytomorphologic features can help select nodules for the BRAF(V600E) mutation test among thyroid nodules read as \"suspicious for malignancy\" on cytology." + pmids: + - "26187369" + - text: The RAS-binding domain of human BRAF protein exhibits allosteric conformational changes upon binding HRAS. + pmids: + - "26165597" + - text: "In the validation-set (508 pts, RAS wt: 262 (51.6%), BRAFV600E mutated: 49 (9.6%)), right-sided primary, female gender and mucinous histology were confirmed as independent predictors of BRAFV600E mutation with high accuracy" + pmids: + - "26575603" + - text: BRAF mutations were associated with central nervous system tumors. + pmids: + - "26115961" + - text: "Data show that proto-oncogene protein B-raf (BRAF) inhibition reduces melanoma glucose uptake per cell, but that this change is no longer significant following normalization for cell volume changes" + pmids: + - "25948295" + - text: "In 19 cases of papillary tumor of the pineal region, there was a lack of BRAF-V600E mutations." + pmids: + - "26125673" + - text: "Apart from these distinct Cdc37/Hsp90 interfaces, binding of the B-Raf protein kinase to the cochaperone is conserved between mammals and nematodes." + pmids: + - "26511315" + - text: Radiotherapy with concomitant BRAF inhibitor therapy is feasible with an acceptable increase in toxicity. Vemurafenib is a more potent radiosensitizer than dabrafenib. + pmids: + - "25762352" + - text: "BRAF immunohistochemistry(IHC) was strongly concordant with BRAF mutation test and had high diagnostic accuracy in BRAF mutation analysis of Papillary thyroid carcinoma.[review; meta-analysis]" + pmids: + - "25957797" + - text: Data support a central role of BRAF V600E mutation in Erdheim-Chester disease and suggest oncogene-induced senescense as a link to both inflammation and oncogenic mutation in histiocytes playing a role in the disease. + pmids: + - "24671772" + - text: BRAF mutation frequencies depended on histological subtype and localization of primary melanoma. + pmids: + - "26138035" + - text: Colon cancers from Asians have a lower rate of BRAF mutations than blacks or whites. + pmids: + - "26160882" + - text: "Results suggest that the presence of a BRAF mutation does not necessarily 'drive' more rapid tumour growth but is associated with poorer MSS in patients with early-stage disease" + pmids: + - "25752325" + - text: BRAF mutation detection in cell block material is feasible and highly specific for papillary thyroid carcinoma + pmids: + - "26154146" + - text: "associate higher expression of the ligand-receptor axis of TFF2 and CXCR4 with BRAF V600E-mutant colon cancer (P = 3.0 x 10(-3) and 0.077, respectively for TCGA; P = 3.0 x 10(-8) and 5.1 x 10(-7) for CIT)" + pmids: + - "25899003" + - text: The presence or absence of the BRAF mutation and TERT promoter polymorphism was not significantly correlated with survival in Papillary thyroid carcinoma + pmids: + - "26461266" + - text: "Case Report: oncocytic papillary thyroid carcinoma with lymphoid stroma (Warthin-like tumor) with BRAF V600E and V600K mutations." + pmids: + - "26191315" + - text: BRAF mutations often affect a limited fraction of transformed metastatic colorectal cancer cells. + pmids: + - "25851630" + - text: BRAF V600E mutation can be used as a supplementary molecular marker to aid in the diagnosis of Hairy cell leukaemia + pmids: + - "25938346" + - text: consideration needs to put on multiple targets when deciding molecular target therapies for patients with BRAF V600E mutated thyroid carcinoma + pmids: + - "26403329" + - text: "reviews the current knowledge on the use and implications of BRAF mutational status in colorectal tumors, in order to define its present role in the clinical practice" + pmids: + - "25975986" + - text: Characterization of TP53 as a downstream effector of miR-3151 provides evidence for a causal link between BRAF mutations and TP53 inactivation + pmids: + - "26582795" + - text: "Given the high prevalence of lung cancer and the availability of targeted therapy, Chinese lung ADC patients without EGFR and KRAS mutations are recommended for HER2 and BRAF mutations detection, especially for those never smokers" + pmids: + - "26102513" + - text: The presence of the BRAFV600E mutation is independently associated with high F-18 FDG uptake on preoperative PET/CT in patients with overt papillary thyroid cancer. + pmids: + - "26632889" + - text: BRAF V600 mutation is associated with melanoma. + pmids: + - "25899783" + - text: "Histopathological prognostic markers (Breslow thickness, mitotic index, ulceration, tumor infiltrating lymphocytes pattern) did not show any differences depending on BRAF V600E mutational status" + pmids: + - "25888143" + - text: "Tissue micro array availability, BRAF mutation and KRAS mutation were all independent prognostic factors for colorectal cancer survival." + pmids: + - "26121270" + - text: "Retrospective analysis suggesting that nivolumab has similar efficacy and safety outcomes in patients with wild-type or mutant BRAF, regardless of prior BRAF inhibitor or ipilimumab treatment." + pmids: + - "26181250" + - text: "Data suggest that proto-oncogene potein B-raf (BRAF) V600E mutations are present in rare cases of dendritic cell and histiocytic disorders, and their identifi cation off ers a potential therapeutic target for these neoplasms." + pmids: + - "25242093" + - text: "LOH and TP53 mutations detected in lip squamous cell carcinoma and actinic cheilitis may be associated with tumorigenesis, whereas BRAF mutation does not seem to significantly contribute to LSCC pathogenesis" + pmids: + - "26084614" + - text: "Letter/Case Reports: BRAF-mutant colorectal cancers with axillary lymph node involvement." + pmids: + - "26182332" + - text: Report acute kidney injury in patients receiving BRAF inhibitors. + pmids: + - "26182194" + - text: Report 3-fold increased risk of death for higher-risk melanomas harboring NRAS or BRAF mutations. + pmids: + - "26146664" + - text: discordancy of BRAF mutation status is not an infrequent finding between primary and metastatic melanoma. + pmids: + - "25376477" + - text: we identified a new SND1-BRAF fusion that appeared to be present in a subpopulation of tumor cells. + pmids: + - "25985019" + - text: "The increased activity of the V600E mutant is twofold: increased flexibility of the A-loop which likely promotes the release of the products following phosphorylation of the substrate and an increased energy barrier between the active and inactive state." + pmids: + - "25868080" + - text: BRAF overexpression is associated with BRAF V600E mutation in papillary thyroid carcinomas. + pmids: + - "26125698" + - text: "Following B-RAF expression, MIR31HG is located mainly in the cytoplasm." + pmids: + - "25908244" + - text: Report incidence and heterogeneity of genetic changes driving BRAF inhibitor resistance in melanomas. + pmids: + - "26608120" + - text: BRAF V600E Mutation is associated with papillary thyroid carcinoma. + pmids: + - "25937618" + - text: "The study demonstrates the activating BRAF mutation (V600E), which is found in multiple human cancers, is a driver of canine invasive cell carcinoma of the bladder, and highlights a urine-based test for quick diagnosis." + pmids: + - "25767210" + - text: The V600E BRAF mutation in a borderline serous tumour of the testis is genotypic evidence of similarity with its phenotypic ovarian counterpart. + pmids: + - "25491441" + - text: NRASQ61R and BRAFV600E immunohistochemistry coupled with next-generation sequencing allow detection of mutations in melanoma challenging samples. + pmids: + - "26297254" + - text: Data indicate mutation in the proto-oncogene protein B-raf (BRAF) gene at the time of hairy cell leukemia (HCL) diagnosis in two cases. + pmids: + - "25029639" + - text: BRAF V600E Mutation is associated with Melanoma. + pmids: + - "25952101" + - text: BRAF V600-Mutation is associated with Colorectal Cancer. + pmids: + - "26392102" + - text: The presence of TC was significantly associated with TERT promoter and BRAF mutations. BRAF did not influence patient outcome. + pmids: + - "25870252" + - text: BRAF V600E mutation is associated with Anaplastic thyroid cancer. + pmids: + - "25588542" + - text: "Case Report: BRAFV600 mutant non-small-cell lung cancer which progressed on vemurafenib therapy." + pmids: + - "26045855" + - text: BRAF V600-Mutation is associated with Colorectal Cancer. + pmids: + - "26460303" + - text: PXA in adults PXA may present features distinct from pediatric PXA. Anaplastic features and BRAF mutation may potentially identify specific subgroups with distinct prognoses + pmids: + - "26454767" + - text: BRAF-mutated conjunctival melanoma (CM) were frequent in younger patients and were rare in tumors involving the extrabulbar conjunctiva. + pmids: + - "26425792" + - text: "BRAF is minimally prognostic in papillary thyroid carcinoma. However, prevalence of the BRAF mutation is 70% in the general population, providing the opportunity for targeted therapy." + pmids: + - "25712893" + - text: BRAFV600E expression is homogeneous in melanoma tumors. + pmids: + - "26083553" + - text: "The present work discusses the most recent and controversial evidence on the BRAF V600E relevance in development and progression of thyroid tumors. [Review]" + pmids: + - "24828987" + - text: Proteomic profile and in silico analysis in metastatic melanoma with and without BRAF mutation + pmids: + - "25437182" + - text: oncogenic activation of BRAF allows tumor cells to co-opt an evolutionarily conserved MHC-I trafficking pathway as a strategy to facilitate immune evasion. + pmids: + - "25795007" + - text: "BRAF mutations in Non-small cell lung cancer are more likely in Adenocarcinoma, and BRAF V600E mutations are more frequent in women and never smokers." + pmids: + - "25689095" + - text: These findings enhance our understanding of factors cooperating with BRAF inhibition that accelerate keratinocyte oncogenesis as well as broaden the knowledge base of multifactorial mediators of cancer in general. + pmids: + - "25724524" + - text: The BRAF mutation is a possible indicator for determining the extent of thyroidectomy required but not for the extent of lymph node dissection and prognosis in patients with conventional papillary thyroid carcinoma. + pmids: + - "26120069" + - text: This study suggests that BRAF mutation-related specific transcripts associate with a poor phenotype in melanoma and provide a nest for further investigation. + pmids: + - "25174651" + - text: BRAF mutations are associated with response to chemotherapy in colorectal cancer. + pmids: + - "25628445" + - text: BRAF mutations are associated with Metastatic Colorectal Cancer. + pmids: + - "25666295" + - text: Dual inhibition of BRAF(V600E) and MEK reduced but did not prevent SW1736 invasion. + pmids: + - "26384551" + - text: The patient carrying a concomitant BRAF mutation in temporal gangliogliomas and focal cortical dysplasia fell into Engel Class II. + pmids: + - "25937573" + - text: "The aim of this study was to evaluate the prognostic role of MMR status, BRAF mutations and specific KRAS point mutation in 762 patients in Chinese population, and several clinicopathologic features to better stratify colorectal cancer patients" + pmids: + - "25929517" + - text: "genetic association studies in populations in Ireland and Belgium: Data suggest that frequency of mutations in BRAF (specifically the V600E mutation) vary by demographic location." + pmids: + - "25746038" + - text: BRAF V600E mutation is associated with glioblastoma. + pmids: + - "25885250" + - text: RNA expression profiles were compared between conventional BRAFwild type and BRAFmutation papillary thyroid carcinomas. + pmids: + - "25922907" + - text: These findings suggest that prenylation inhibition may be able to target melanoma cells with mutant NRAS or with mutant BRAF and PTEN. + pmids: + - "25646931" + - text: Tumor dissemination in colon cancer patients is less likely to occur with the BRAF mutation. + pmids: + - "25884297" + - text: BRAF mutations are associated with follicular variant of thyroid papillary carcinoma. + pmids: + - "26230187" + - text: BRAF-induced tumorigenesis is IKKalpha-dependent but NF-kappaB-independent + pmids: + - "25900832" + - text: BRAF V600E mutation is associated with Langerhans cell histiocytosis. + pmids: + - "26734696" + - text: high-resolution melt and allele-specific PCR could detect as low as 1.25% KRAS- or BRAF-mutant alleles. + pmids: + - "25605225" + - text: "Case Report: patient with V600E BRAF-mutant leptomeningeal melanoma who experienced a complete clinical and radiologic response after dabrafenib treatment." + pmids: + - "24733801" + - text: No mutations in the BRAF gene were identified in patients with gastric cancer. + pmids: + - "25815786" + - text: Vitamin C is selectively toxic to cells with mutant KRAS or BRAF alleles. + pmids: + - "26541605" + - text: "Among 264 patients, mutations in KRAS exon 2, KRAS exons 3 or 4, NRAS, BRAF and PIK3CA were detected in 34.1%, 3.8%, 4.2%, 5.4% and 6.4%, respectively. Thus, a total of 12.1% of patients without KRAS exon 2 mutations had other RAS mutations" + pmids: + - "25886136" + - text: BRAF(V600E) mutations in primary cutaneous melanomas were associated with residence in locations with medium and high UV indices in mid-life. + pmids: + - "25048604" + - text: "Next Generation Sequencing (NGS) assay revealed three genomic alterations: activating BRAF mutation (V600E), loss of CDKN2A/2B, and APC I1307K. After treatment with BRAF inhibitor (dabrafenib), the child's clinical condition improved progressively." + pmids: + - "25116269" + - text: "global miRNA expression profiles in fresh-frozen metastatic melanomas in relation to clinical outcome and BRAF mutation, were examined." + pmids: + - "25490969" + - text: "Data show that licochalcone A (LicoA) suppresses solar UV-induced cyclooxygenase (COX-2) expression by acting as a potent inhibitor of enzymes PI3K, MEK1, and B-Raf." + pmids: + - "25710724" + - text: A complex mechanism driven by mutation BRAF (V600E) on melanoma tumorigenesis. + pmids: + - "25890285" + - text: "These tumors showed a markedly better prognosis, with molecularly PXA-like tumors frequently harboring BRAF V600E mutations and 9p21 (CDKN2A) homozygous deletion." + pmids: + - "25752754" + - text: neuregulin 1 promotes compensatory ErbB3 receptor signaling in mutant BRAF melanoma + pmids: + - "26269601" + - text: "This is the first observation of a secondary BRAF mutation in a vemurafenib-resistant patient-derived melanoma sample, which confirms the potential importance of the BRAF L505H mutation in the development of therapy resistance." + pmids: + - "25515853" + - text: Combination of a BRAF inhibitor plus a MEK inhibitor adds a clear benefit over monotherapy with BRAF inhibitor in unresectable or metastatic cutaneous BRAF Val600-mutation-positive melanoma. + pmids: + - "26433819" + - text: Missense mutations were identified in the BRAF and KRAS genes in cutaneous melanoma cell line. + pmids: + - "25515650" + - text: Results demonstrate that mutated BRAF is associated with melanomas that are more aggressive.They are also associated with absence of solar elastosis and tumor epitheloid cells + pmids: + - "25385688" + - text: The BRAFT1799A mutation was found in 38 cases (42.7%). + pmids: + - "25854387" + - text: No association was established between BRAF V600E mutation and regional lymph node metastasis in papillary thyroid carcinoma in Chinese patients. + pmids: + - "25755776" + - text: "Patient-derived tumor xenografts provides 'real-time' results in an animal that phenocopies the biology and expected vemurafenib responses of the tumor in a patient with BRAF V600E melanoma." + pmids: + - "23852164" + - text: "Among the 779 cases, 150 cases were positive for BRAF (V600E) staining, including 38 (of 611, 6%) CRCs, 102 (of 127, 80%) PTCs and 10 (of 41, 24%) malignant melanomas." + pmids: + - "25784606" + - text: Report relatively high frequency of BRAF(V600E) and KIT mutations in amelanotic melanoma. + pmids: + - "23938765" + - text: The potential role of combined MMR and BRAF IHC as prognostic markers in CRC. + pmids: + - "25153715" + - text: "Despite its high specificity, our meta-analysis shows that BRAF(V600E) mutation analysis has a low sensitivity in diagnosing papillary thyroid cancer in thyroid nodules" + pmids: + - "26232865" + - text: BRAF protein play a role in the mitochondrial fragmentation in melanoma patients. + pmids: + - "26032958" + - text: Somatic BRAF mutation was found in a patient with syringocystadenoma. + pmids: + - "25950823" + - text: "no BRAF V600E mutations were found in PMSAs, but KIAA1549-BRAF fusion was identified in intermediate pilomyxoid tumors" + pmids: + - "26321697" + - text: "the outcome of 68 patients with advanced colorectal cancer and RAS, BRAF and PI3KCA status according to ALK gene status, is reported." + pmids: + - "24691006" + - text: BRAF protein immunohistochemistry on fine needle aspiration can be important in the diagnosis of papillary thyroid carcinoma + pmids: + - "26080065" + - text: "in different macroscopic subtypes of colorectal adenoma, BRAF mutation (V600E) was found in 2 of 36 lateral spreading tumors and 1 of 34 polypoid lesions; mutations in KRAS, BRAF or PIK3CA occurred in a mutually exclusive manner" + pmids: + - "25551625" + - text: "Case Report: successful (neo)adjuvant BRAF-targeted therapy in a patient with locally advanced BRAF V600E mutant melanoma." + pmids: + - "25643238" + - text: A pathogenic BRAF(V600E) mutation was identified in a patient with Erdheim-Chester disease. + pmids: + - "25735579" + - text: Data suggest that Sema6A and Mical1 may represent new potential therapeutic targets in BRAFV600E melanoma. + pmids: + - "25576923" + - text: LY3009120 also inhibits various forms of RAF dimers including BRAF. + pmids: + - "26343583" + - text: Tumors with non-V600E BRAF mutants are insensitive to these drugs. + pmids: + - "26343582" + - text: BRAFV600E-mutation-positive papillary thyroid microcarcinoma are more likely to manifest with aggressive clinicopathological characteristics. + pmids: + - "25593071" + - text: "these results may not only indicate some future applications of inhibitors targeting B-Raf(v600e), but also benefit B-Raf(v600e) harboring cancer patients." + pmids: + - "25832798" + - text: The absence of CXCR4 expression and BRAF mutation in cancers with a minor PD component underlined different pathogenic and metastatic processes in comparison with WDCs. + pmids: + - "24992171" + - text: "meta-analysis suggested that extrathyroidal extension, lymph node metastasis, disease recurrence, and advanced TNM stage were associated with BRAF(V600E) mutation in papillary thyroid carcinoma" + pmids: + - "24389984" + - text: mutations in BRAF and NRAS are not mutually exclusive because they were simultaneously present in the same tumor specimens + pmids: + - "24710085" + - text: PD-L1 expression in melanocytic lesions does not correlate with the BRAF V600E mutation. + pmids: + - "25370533" + - text: High frequency and specificity of the V600E BRAF mutation make it a useful biochemical marker for selecting the right surgical strategy for thyroidectomy. + pmids: + - "26521469" + - text: we describe three interesting cases of paediatric glial and glioneuronal tumours harbouring both BRAF V600E and H3F3A K27M mutations. + pmids: + - "25389051" + - text: Trametinib alone caused upregulation of p-AKT in BRAF non-V600 mutated cells. + pmids: + - "25706985" + - text: BRAF and NRAS alterations are preserved during in vitro culture in melanoma in a series of patients in which the c-KIT mutation was not detected + pmids: + - "25363723" + - text: It is a major negative mediator of the extracellular signal-related kinase (ERK)/mitogen-activated protein kinase and a substrate of cdk5 in neurons. + pmids: + - "25104559" + - text: Our data lead us to hypothesize that TERT promoter and BRAF mutations cooperate in cutaneous melanoma + pmids: + - "26055532" + - text: v-raf murine sarcoma viral oncogene homolog B (BRAF) is preferentially mutated in proximal colon cancers. + pmids: + - "26145760" + - text: Results show that active BRAF upregulates HMGCL via Oct-1 in cancer cells. HMGCL selectively promotes BRAF V600E-dependent phosphorylation and activation of MEK1 pathway by controlling intracellular levels of its product acetoacetate. + pmids: + - "26145173" + - text: "Presence of BRAF V600E associated with aggressive tumor features in Papillary thyroid carcinoma, including invasion, metastasis, advanced TNM stage at presentation, low response to radioiodine treatment, recurrence, and tumor-related mortality." + pmids: + - "26105190" + - text: "IRS2 copy number gain, IGF-1R, IR-A, and IGFBP6 RNA expression levels, and KRAS and BRAF mutational status were identified as candidate predictive biomarkers for response to BMS-754807." + pmids: + - "25527633" + - text: "Letter/Case Report: BRAF mutations in metanephric adenofibroma." + pmids: + - "26274032" + - text: BRAF mutation was not associated with negative prognostic indicators or adverse outcomes in PTC. + pmids: + - "24862939" + - text: The BRAF(V600E) mutation was significantly associated with lymph node metastasis and poor prognosis in papillary thyroid carcinoma. + pmids: + - "25468810" + - text: "All four tumors that recurred were LN+, with infiltrative borders, and lacked the BRAF mutation." + pmids: + - "25702102" + - text: "Compared with RAS or PAX8/PPARG-positive TCs, BRAFV600E or RET/PTC-positive Thyroid cancers were more often associated with stage III/IV disease and recurrence." + pmids: + - "26258321" + - text: BRAF-V600E mutations occur predominantly in female smokers with adenocarcinomas. + pmids: + - "26066373" + - text: BRAF mutations in NSCLC were significantly associated with adenocarcinomas . + pmids: + - "24979348" + - text: "The prevalence of rare BRAF mutations was 0.76% of all BRAF-positive thyroid cancers, and the rare mutations were associated with less aggressive pathologic features." + pmids: + - "25120313" + - text: "The SMOF412E mutation was not detected in ameloblastoma. The BRAFV600E-activating mutation is a common event in ameloblastomas, occurring regardless of site or histological type. This mutation is also detected in odontogenic carcinomas." + pmids: + - "25854168" + - text: "findings suggest that the BRAF(V600E) mutation can be detected using a PNA clamp real-time PCR in the blood of PTC[ papillary thyroid carcinoma ] patients with lung metastasis" + pmids: + - "25837167" + - text: suggests that PIK3CA mutations account for a small fraction of PI3K pathway activation and have a limited impact in interfering with the BRAF/NRAS-driven growth in melanoma + pmids: + - "25627962" + - text: Mutations in BRAF predict resistance to anti-EGFR therapies. + pmids: + - "24666267" + - text: "HPV presence was not associated with age, stage or grade of tumours, MSI or mutations in KRAS, TP53 or BRAF genes." + pmids: + - "25647260" + - text: BRAF mutation is associated with melanoma. + pmids: + - "24714776" + - text: BRAF mutations are associated with response to chemotherapy in cancer. + pmids: + - "24947927" + - text: This review will focus on the science and clinical findings related to targeted therapies that inhibit BRAF or MEK as well as the immunotherapies that block the CTLA-4 or PD-1 pathways + pmids: + - "25899612" + - text: "Data suggest that the two strands of the BRAF promoter region, the G-rich strand and the C-rich strand, fold into a predominant antiparallel G-quadruplex and into an i-motif, respectively, and that they can coexist at nearly physiological conditions." + pmids: + - "26143373" + - text: BRAF V600E immunostaining is a helpful marker for pediatric metanephric adenoma + pmids: + - "26014474" + - text: real-time PCR cycle threshold values for the BRAFV600E mutation obtained from fine needle aspirates can be associated with central lymph node metastasis in papillary thyroid microcarcinoma patients + pmids: + - "26181555" + - text: "The results from this prospective cohort study further support an influence of sex and lifestyle factors on different pathways of colorectal carcinogenesis, defined by KRAS and BRAF mutation status of the tumours." + pmids: + - "24918610" + - text: BRAF V600E mutation might be associated with right-sided tumors and subsequently related unexplained iron-deficiency anaemia (IDA) at presentation + pmids: + - "25862899" + - text: The percentage of mutant BRAF alleles in papillary thyroid carcinoma is significantly associated with tumor burden and extrathyroidal invasion. + pmids: + - "24748129" + - text: BRAF V600 mutations are associated with pathological features in Japanese melanoma patients + pmids: + - "25051202" + - text: "We show for the first time that this important pediatric tumor may harbor the oncogenic BRAFV600E mutation, providing the first insights to their personalized treatment." + pmids: + - "26122804" + - text: Report low rates of BRAF mutations in Chinese colorectal carcinoma patients. + pmids: + - "25663779" + - text: "The adenocarcinoma showed expression of CK20 and p53, but CK7 in patches. The molecular profile of the adenocarcinoma showed a mutation in KRAS and wild-type BRAF, which might be associated with malignant transformation of intracranial mature teratomas." + pmids: + - "25039399" + - text: our data indicate that preexisting MEK1(P124) mutations are associated with a reduced response to BRAF inhibitor therapy and identify a subset of patients with BRAF-mutant melanoma likely to benefit from combination therapies + pmids: + - "25370473" + - text: "KRAS and BRAF mutations are associated with inferior survival, independent of MSI status, in Japanese patients with curatively resected colorectal carcinoma." + pmids: + - "25632202" + - text: Overexpression of HO-1 in a subset of thyroid cancers is associated with tumour aggressiveness and BRAF V600E expression + pmids: + - "25262966" + - text: there is a lower incidence of brain metastases in patients with BRAF-mutated tumors who took vemurafenib before the diagnosis of brain metastases + pmids: + - "25426645" + - text: "By this integrated approach, we found that patients with BRAF V600E mutation responded very well to broad acting drugs and there was no relation to prognosis in early-stage myeloma" + pmids: + - "25794135" + - text: we identify that analysis of plasma and urinary cfDNA provides a reliable method to detect the BRAF(V600E) mutation and monitor response to therapy in these disorders. + pmids: + - "25324352" + - text: BRAFV600E mutation in primary tumor might be a promising molecular marker to predict the status of 131I uptake in distal metastases. + pmids: + - "24978326" + - text: 6 different BRAF missense mutations were found in 9 of 11 patients with cadiofaciocutaneous syndrome. + pmids: + - "25194980" + - text: The frequency of the BRAF mutation in cPTCs with suspicious US features was higher than that of cPTCs with negative US features regardless of the BSRTC. + pmids: + - "25404749" + - text: BRAF codon 600 mutations not found in Iranian prostate adenocarcinoma patients. + pmids: + - "26299074" + - text: We documented three novel mutations in the BRAF gene in cardio-facio-cutaneous syndrome patients and correlated clinical findings with causative mutations in the BRAF or MEK1/MEK2 genes + pmids: + - "25463315" + - text: "BRAF V600 appears to be a targetable oncogene in some, but not all, nonmelanoma cancers. Preliminary vemurafenib activity was observed in non-small-cell lung cancer and in Erdheim-Chester disease and Langerhans'-cell histiocytosis." + pmids: + - "26287849" + - text: loss of stem cell identity upon induction of BRAF/MAPK activity may represent a novel fail-safe mechanism protecting intestinal tissue from oncogene activation + pmids: + - "25109331" + - text: "This study confirmed the high frequency of KIAA1549:BRAF fusion in Pilocytic Astrocytomas." + pmids: + - "26083571" + - text: Study found BRAF V600E mutations in 81 percent of papillary craniopharyngioma sampled + pmids: + - "24715106" + - text: These observations led us to conclude that increased TSH signaling overcomes OIS and is essential for B-RafV600E-induced papillary thyroid carcinogenesis. + pmids: + - "25499223" + - text: This work supports the fact that BRAF V600 mutation is not implicated in meningioma tumorigenesis + pmids: + - "25817073" + - text: "KIT-mutated patients had a worse outcome than PDGFRA-mutated or triple-negative (KIT, PDGFRA, BRAF wild-type) cases" + pmids: + - "25970686" + - text: detection of BRAF V600E by immunohistochemistry is useful in the distinction of hairy cell leukemias from other splenic-based lymphomas + pmids: + - "26071465" + - text: "truncated RAF1 and BRAF proteins, recently described as products of genomic rearrangements in gastric cancer and other malignancies, have the ability to render neoplastic cells resistant to RTK-targeted therapy" + pmids: + - "25473895" + - text: "This is the largest study on the aggressive role of TERT promoter mutations in anaplastic thyroid cancer(ATC), demonstrating an association of TERT C228T with BRAF V600E, older patient age, and tumor distant metastasis in ATC." + pmids: + - "25584719" + - text: BRAF mutation in cutaneous malignant melanoma plays an important role in the development of skin cancer in Asians. population. + pmids: + - "25819940" + - text: Methylation of MLH1 is strongly associated with BRAF mutations in sporadic colorectal cancer. + pmids: + - "25176643" + - text: the first BRAF V600/601 and KRAS G12-K16 screening study in primary mediastinal B-cell lymphoma that failed to identify hotspot mutations in this specific subtype + pmids: + - "24397598" + - text: Multifunctional bioscaffolds for 3D culture of melanoma cells reveal increased MMP activity and migration with BRAF kinase inhibition. + pmids: + - "25870264" + - text: "analysis of BRAF 3'UTR isoforms in melanoma" + pmids: + - "25685929" + - text: The consistency of the BRAF gene mutation in peripheral blood and tissue is high. + pmids: + - "25450274" + - text: "In tDNA, 50 mutations (36 EGFR, 5 ERBB2, 4 KRAS, 3 BRAF, and 2 PIK3CA) were identified, of which 26 were detected in cfDNA. These data demonstrate the feasibility and potential utility of mutation screening in the detection of a range of tumor biomarkers" + pmids: + - "25013125" + - text: BRAF mutation is associated with melanoma nodal metastases and an unknown primary site. + pmids: + - "24866436" + - text: Our data suggest that the poor prognosis of dMMR is driven by the BRAF(MT) status. + pmids: + - "25139339" + - text: The presence of dermoscopic peppering and thicker Breslow index ulceration suggest a morphological consequence of immune behaviour in BRAF-mutated melanomas + pmids: + - "24749938" + - text: our study demonstrated the BRAF V600E mutation was an independent prognostic factor for colon cancer patients. + pmids: + - "25367198" + - text: Concluded that the presence of BRAF(V600E) mutation in papillary thyroid carcinoma could be preoperatively predictive of extrathyroidal invasion in a Chinese population. + pmids: + - "25400776" + - text: "In this retrospective analysis, triplet chemotherapy with OCX was well tolerated and achieved encouraging efficacy in metastatic colorectal cancer irrespective of RAS/RAF mutation status." + pmids: + - "25427581" + - text: BRAF V600E mutation is associated with refractory hairy cell leukemia. + pmids: + - "24789721" + - text: "Although there was large variability between patients, FDG uptake decreased with higher daily doses in patients with BRAFV600 mutation-positive melanoma" + pmids: + - "24958809" + - text: dual HSP90/TRAP1 inhibitor HSP990 showed activity against the TRAP1 network and high cytostatic potential in BRAF-mutated colorectal carcinoma cells + pmids: + - "25239454" + - text: The most important implication of these findings is that we could begin to treat patients with the BRAF V600E and CDKN2A alteration differently when they are first diagnosed than those with a lower risk for secondary high-grade glioma + pmids: + - "25818616" + - text: "Pediatric oligodendrogliomas (pODGs) can harbor the KIAA1549-BRAF fusion with aberrant MAPK/ERK signaling, and there exists an option of targeting these pathways in such patients." + pmids: + - "25794445" + - text: "ETV1 expression is a rare event in human melanoma and seems to be rather based on hyperactivation of MAPK signals, by BRAF (V600E) mutation, than on ETV1 gene amplification." + pmids: + - "25073704" + - text: Data show that a high proportion of cases of non-pulmonary Langerhans cell histiocytosis (LCH) and pulmonary LCH (PLCH) expressed the proto-oncogene protein B-raf (BRAF) V600E mutant protein. + pmids: + - "24471909" + - text: "The BRAF(V600E)mutation iss significantly associated with several poor clinicopathologic characteristics, but was not associated with sonographic features, regardless of thyroid tumor size." + pmids: + - "25337709" + - text: Report BRAF mutation status in colorectal neoplasms and neuroendocrine differentiation in primary/metastatic colorectal neoplasms. + pmids: + - "25337237" + - text: PTEN loss was significantly associated with OS and time to MBM in patients with BRAF(V600) mutations. + pmids: + - "25165098" + - text: "Study reports that mice engineered to overexpress either the full-length murine B-Raf pseudogene Braf-rs1 and its human ortholog, BRAFP1, elicit their oncogenic activity, at least in part, as competitive endogenous RNAs (ceRNAs) that elevate BRAF expression and MAPK activation in vitro and in vivo." + pmids: + - "25843629" + - text: Activating FGFR2-RAS-BRAF mutations play a critical role in the pathogenesis of most cases of ameloblastoma. + pmids: + - "24993163" + - text: BRAF mutation status was obtained for 146/160 cases. Overall mutation rate was 24/88 (27.3%) in primary and 25/58 (43.1%) in metastatic melanoma. V600E was the predominant mutation in 21/24 (87.5%) of primary and 23/25 (92%) of metastatic melanomas. + pmids: + - "25262755" + - text: "Targeted sequencing on primary, metastatic, and normal tissue from colorectal cancer patients found a high degree of concordance for KRAS, NRAS, and BRAF mutations that were identical in both the primary and metastatic tumors." + pmids: + - "25164765" + - text: "Case Report: KRAS mutated pancreatic adenocarcinoma developing on treatment with combined BRAF and MEK inhibition for metastatic melanoma." + pmids: + - "24821886" + - text: This study demonstrates that IHC analysis is a very sensitive test for evaluation of BRAF mutations in metastatic malignant melanoma and may be useful as an initial screening test. + pmids: + - "25046227" + - text: "genetic association studies in a population in Iran: Data suggest that a mutation in BRAF (V600E) is associated with prognosis of paritents with papillary thyroid carcinoma." + pmids: + - "24679337" + - text: BRAF V600E allele frequency is associated with papillary thyroid cancer progression. + pmids: + - "25266729" + - text: we detected 15 additional mutated melanoma samples and two additional BRAF V600E mutations in metastatic colorectal cancer samples by the LightMix assay compared to Sanger sequencing. + pmids: + - "25318602" + - text: "BRAF mutations were found in 8.7% of colorectal cancer precursor lesions, mainly associated with serrated polyps and absent in adenomas. In CRC cases, 6.5% exhibited BRAF mutation." + pmids: + - "25050586" + - text: BRAF mutations are virtually absent in melanomas originating from the vulva or vagina + pmids: + - "24603591" + - text: analysis of BRAF mutation and CDKN2A deletions in childhood secondary high-grade glioma + pmids: + - "25667294" + - text: "Preoperative targeted therapy of advanced BRAF-mutant melanoma is feasible, well tolerated, induces brisk tumor responses, and facilitates correlative science." + pmids: + - "25797743" + - text: No BRAF mutations were detected in the lesions of 18 cases + pmids: + - "25031736" + - text: "amuvatinib has proapoptotic activity against melanoma cell lines, with selectivity observed for those harboring oncogenic NRAS but not BRAF" + pmids: + - "24950457" + - text: "Report increased frequency of BRAF proto-oncogene hot spot mutation V600E in cohort of colorectal cancer patients from Ahvaz City, southwest Iran." + pmids: + - "25911848" + - text: suboptimal specificity and PPV limits the diagnostic utility of both antibodies to reliably detect BRAF p.V600E mutations in thyroid carcinoma + pmids: + - "24897065" + - text: Data support a role for BRAF V600E immunohistochemistry in diagnostically challenging cases of metanephric adenoma and expand the spectrum of BRAF exon 15 mutations in this uncommon but unique renal neoplasm. + pmids: + - "25602792" + - text: "Suggest that continuing vemurafenib treatment beyond progression may be beneficial in BRAF V600 mutated advanced melanoma patients, who prior to progression responded to vemurafenib." + pmids: + - "25690538" + - text: "BRAF mutational analysis was performed on tissue from 104 patients: 90 with sarcoma only and 14 with sarcoma and melanoma. In the sarcoma-melanoma group, three sarcomas showed BRAF mutation." + pmids: + - "24117833" + - text: Report predictive value of immunohistochemistry in detecting BRAF mutations in neoplasms. + pmids: + - "25634750" + - text: Report BRAF VE1 immunoreactivity patterns in epithelioid glioblastomas positive for BRAF V600E mutation. + pmids: + - "25581727" + - text: Common BRAF mutations are not present in systemic mastocytosis patients. + pmids: + - "25034364" + - text: "evaluated the potential role of XIAP expression as a novel prognostic marker to predict recurrence, in combination with the BRAF(V600E) mutational status in papillary thyroid cancer" + pmids: + - "24124924" + - text: "Review/Meta-analysis: findings support BRAF mutation assessment before initiation of treatment with anti-EGFR monoclonal antibodies." + pmids: + - "25673558" + - text: BRAF V600E mutations occurs infrequently in endometrial cancer. + pmids: + - "23880961" + - text: mutated KRAS and mutated BRAF seem to be prognostic factors in patients with Colorectal cancer who undergo lung metastasectomy. + pmids: + - "25688918" + - text: Findings suggest a link between Langerhans cell histiocytosis and Erdheim-Chester disease involving the BRAF(V600E) mutation. + pmids: + - "24894769" + - text: "BRAF mutations occurred in 2.2% of advanced-stage lung adenocarcinomas, were most commonly V600E, and were associated with distinct clinicopathologic features in comparison with other genomic subtypes and with a high mutation rate in more than 1 gene." + pmids: + - "25273224" + - text: Data indicate an independent prognostic value of BRAF V600E mutation for papillary thyroid cancer (PTC) recurrence in various clinicopathologic categories. + pmids: + - "25332244" + - text: "In the management of thyroid nodules with benign cytology but positive BRAF(V600E) mutation, thyroidectomy should be considered in nodules which have 2 or more suspicious US features and are considered discordant on image-cytology correlation." + pmids: + - "25616949" + - text: "melanoma cell lines selected for resistance to BRAFi+MEKi, but not those to BRAFi alone, displayed robust drug addiction, providing a potentially exploitable therapeutic opportunity." + pmids: + - "25600339" + - text: "Data demonstrate that the BRAF(V600E) cooperates with either PIK3CA(H1074R) or with silencing of the tumor-suppressor PTEN, to promote development of anaplastic thyroid carcinoma." + pmids: + - "24770869" + - text: "Using the PCR test with sense allele-specific primers, mutations in V600 were found in 33 of 51 Russian patients (64.7%) with cutaneous melanoma." + pmids: + - "24922189" + - text: "Aberrant expression of A-, B-, and C-RAF, and COT is frequent in PTC; increased expression of COT is correlated with recurrence of PTC." + pmids: + - "25674762" + - text: did not find a negative prognostic impact of a positive BRAF V600E mutation status on survival in papillary thyroid cancer + pmids: + - "25482468" + - text: Melanomas with associated naevi have a higher frequency of BRAF(V600E) mutations than melanomas unassociated with naevi. + pmids: + - "24614711" + - text: The frequency of KRAS and BRAF mutations was low; KRAS mutations were detected in 1.6% and BRAF mutations in 4.7% of the biopsies for anal carcinoma. + pmids: + - "25244542" + - text: BRAF overexpression could be an independent factor causing tumorigenesis in gliomas regardless of phospho-EGFR expression. + pmids: + - "25618114" + - text: colorectal cancers with a BRAF mutation have distinct molecular features and resulted in a poor prognosis in Korean patients with advanced colorectal cancer + pmids: + - "24764675" + - text: BRAF V600E mutations are frequent in dysembryoplastic neuroepithelial tumors and subependymal giant cell astrocytomas. + pmids: + - "25346165" + - text: "Considering the diagnostic performance and low reproducibility of US, the combination of FNA with BRAFV600E is the most reliable and objective method for diagnosing thyroid malignancy." + pmids: + - "24954313" + - text: Anti-apoptotic BCL-2 proteins govern cellular outcome following B-RAF(V600E) inhibition and can be targeted to reduce resistance. + pmids: + - "24608435" + - text: report of a new IDH1 mutation associated with BRAF mutation in a very unusual glial tumor. + pmids: + - "24857351" + - text: "KRAS, BRAF, and PIK3CA mutations were evaluated in 204 colorectal carcinoma samples; the frequency of KRAS, BRAF, and PIK3CA mutations was 23.5, 9.8, and 5.9 %, respectively." + pmids: + - "25073438" + - text: Preanalytical workflow optimisation may reduce errors in down-stream sequencing in BRAF mutation detection. + pmids: + - "25430497" + - text: "analysis of RAS, RET/PTC, and BRAF mutations in advanced stage of papillary thyroid carcinoma" + pmids: + - "24798740" + - text: "BRAF V600E mutation is a rare event in biliary tract cancer, accounting for only 1% of all subtypes, and is restricted to intrahepatic cholangiocarcinoma." + pmids: + - "24309328" + - text: BRAF mutation in FVPTC is associated with unfavourable clinicopathological characteristics and malignant features on ultrasonography and may be a potential prognostic factor as it is in classical PTC. + pmids: + - "24548081" + - text: "BRAF(V600E) mutation is not a useful prognostic marker, though it does influence the short- and medium-term outcomes of classic papillary thyroid cancer" + pmids: + - "24787545" + - text: the BRAF pathway may contribute to the pathogenesis or malignant transformation of histiocytic and dendritic cell neoplasms. + pmids: + - "24720374" + - text: Shifted termination assay fragment analysis can detect BRAF V600 mutations in formalin-fixed paraffin-embedded papillary thyroid carcinoma samples. + pmids: + - "23883275" + - text: "BRAF V600E mutation affects patients with large/giant congenital melanocytic nevi, and with neurocutaneous melanocytosis, a novel finding." + pmids: + - "25490715" + - text: Multiple potential therapeutic targets were identified in metastatic unknown primary and cutaneous melanomas that lacked BRAFV600 and NRAS mutations + pmids: + - "25148578" + - text: V600E mutations in 8/15 bile duct adenomas + pmids: + - "24634053" + - text: The association between a host response and lymphovascular invasion and microvessel density in primary cutaneous melanoma with a BRAF mutation suggests that they exhibit potential for strategizing immunotherapies + pmids: + - "25537974" + - text: BRAF V600E mutation is related to lack of response and worse survival in wild-type KRAS metastatic colorectal cancer patients treated with anti-EGFR MoAbs. + pmids: + - "25429742" + - text: "Targeted therapy in BRAF mutated melanoma; treatment with BRAF inhibitors and in combination with MEK inhibitors. [Review]" + pmids: + - "25180764" + - text: BRAF V600E mutation status did not correlate with any clinicopathological parameters + pmids: + - "25442222" + - text: "Together, this work provides formal proof of an allosteric link between the RAF dimer interface, the activation segment and the catalytic infrastructure." + pmids: + - "25437913" + - text: "BRAFV600E intratumor and intrapatient heterogeneity in melanoma is diminutive, nevertheless, the identified exceptions will have important implications for the clinical management of this disease." + pmids: + - "25526463" + - text: Enforced expression of RAC1 P29S in sensitive BRAF-mutant melanoma cell lines confers resistance manifested by increased viability. + pmids: + - "25056119" + - text: The combined BAP1-BRAFV600E+ immunoprofile appears to be a constant feature of BAP1 tumor syndrome-associated melanocytic lesions + pmids: + - "25479927" + - text: B-RAF mutations were frequently detected in aberrant crypt foci. + pmids: + - "25314065" + - text: BRAF V600 mutation is associated with melanoma. + pmids: + - "25499274" + - text: "SOX2 expression is partly regulated by BRAF signalling, and an increased SOX2 expression may promote CRC metastasis and mediate a poor patient prognosis" + pmids: + - "25010701" + - text: "Results suggest tha tthe pathological progression from Serrated adenoma through colon carcinoma required the successive events: mutations in BRAF protein, hypermethylation of MLH1 then hypermethylation in AXIN2." + pmids: + - "24964857" + - text: combination of microsatellite instability and BRAF status serves as both a prognostic and predictive marker and may provide much-needed guidance during the planning of therapeutic strategies + pmids: + - "25154726" + - text: "While frequency rates of BRAF mutations were quite identical across the different MPM lesions, a significant increase of cKIT (p<0.001) and CyclinD1 (p=0.002) amplification rates was observed between first and subsequent primary melanomas" + pmids: + - "24885594" + - text: The study found a BRAF(V600E) mutation frequency of 54% (seven of 13) in brainstem gangliogliomas. + pmids: + - "24238153" + - text: study found CYP24A1 expression was increased in papillary thyroid carcinoma compared to benign multinodular goitre; expression was further increased in stage III and IV tumours; a strong correlation found between CYP24A1 overexpression and BRAF(V600E) mutation + pmids: + - "24382015" + - text: Data indicate that dual targeting of heat-shock proteins 90 (Hsp90) and BRAF(V600E) kinase provided combinatorial benefit in vemurafenib-sensitive melanoma cells in vitro and in vivo. + pmids: + - "24398428" + - text: V600E BRAF mutation is associated with synchronous and metachronous thyroid cancer coexisting with Langerhans cell histiocytosis. + pmids: + - "25156525" + - text: We conclude that a high proportion of PTC cases likely harbors the BRAF V600E mutation. This mutation can be used as an independent factor for predicting the recurrence and distal metastasis of PTC tumors. + pmids: + - "24301760" + - text: BRAF V600E inhibited NIS expression by the upregulation of its promoter methylation. Specific regions of CpG islands of NIS promoter in BRAF V600E harboring papillary thyroid carcinoma were highly methylated compared with surrounding normal tissue. + pmids: + - "25378232" + - text: BET inhibition with I-BET151 appears independent of the BRAF and NRAS mutational status of melanoma + pmids: + - "24906137" + - text: Results show that BRAF-mutated patients were significantly younger at the time of primary melanoma and first diagnosis of metastasis than BRAF wild-type patients but BRAF mutation is not associated with a more aggressive illness. + pmids: + - "24926836" + - text: Studies indicate that the role of proto-cncogene protein B-raf-MEK-ERK pathway in controlling cell fate as a primary target for deregulated activation in cancer. + pmids: + - "24664307" + - text: The B-Raf(V600E) inhibitor dabrafenib selectively inhibits RIP3 and alleviates acetaminophen-induced liver injury. + pmids: + - "24901049" + - text: BRAF(V600E) mutation is associated with papillary thyroid carcinoma. + pmids: + - "25156883" + - text: The 5-year survival rate of colorectal cancer patients with BRAF mutations was significantly decreased. + pmids: + - "24942334" + - text: "This study investigated the impact of KRAS, NRAS, BRAF, PI3KCA and TP53 status on outcome of elderly metastatic colorectal cancer patients" + pmids: + - "23821376" + - text: Lymph node specimens with low tumor cellularity due to numerous adjacent lymphocytes may pose a challenge to clinical detection of BRAF mutations of melanoma. + pmids: + - "25456393" + - text: this study supports the idea that additional NK cell-based immunotherapy (by checkpoint blockade or agonists or cytokines) may combine well with BRAF(V600E) inhibitor therapy to promote more durable responses in melanoma. + pmids: + - "25351955" + - text: To detect whether the V600E mutation is present or absent in the BRAF gene in melanoma patients is an important component in the evaluation of the biological behavior of tumor cells and their performance of biologically significant functions. + pmids: + - "25543407" + - text: "Near-genomewide RNAi screening for regulators of BRAF(V600E) -induced senescence identifies RASEF, a gene epigenetically silenced in melanoma." + pmids: + - "24703243" + - text: "BRAF V600E mutation positive pediatric posterior fossa gangliogliomas exhibit no unique imaging features, are associated with shorter progression-free survival, and carry promising treatment implications by BRAF inhibitors" + pmids: + - "24792487" + - text: A high discordant rate was found in Braf mutation statuses between primary and metastatic cutaneous melanoma lesions. + pmids: + - "25236573" + - text: BRAF-V600 mutations are not associated with response to chemotherapy in stage IV melanoma. + pmids: + - "24586605" + - text: Both the CRP single nucleotide polymorphism rs7553007 and KRAS/BRAF mutations were independent prognostic factors for colorectal cancer patients with synchronous liver metastasis. + pmids: + - "23755178" + - text: long-term treatment with BRAF inhibitors can affect the interaction between BRAF/MAPK and Wnt/beta-catenin signaling to affect patient outcomes + pmids: + - "24733413" + - text: Overexpression of BRAF(V600E) in normal thyroid epithelial (H tori) cells also reduced the effects of Dkk-1 on cell survival. + pmids: + - "24848709" + - text: "This study indicated that mutations of KRAS, PIK3CA and NRAS were rare in advanced gastric cancer." + pmids: + - "24774510" + - text: Genetic targeting of BRAF Valine600Aspartate drug resistance mutation identifies dabrafenib as a selective agent against BRAF-resistant colorectal cancer cells. + pmids: + - "24885690" + - text: "Treatment of HCL patients with vemurafenib, an inhibitor of mutated BRAF, resulted in normalization of HSPC frequencies and increased myeloid and erythroid output from HSPCs" + pmids: + - "24871132" + - text: Data reveal a mechanism by which BRAF(V600E) and PI3K signaling cooperate to regulate melanoma proliferation through AKT-independent effects on protein translation. + pmids: + - "24425783" + - text: BRAF(V600E) mutation demonstrated to be an adverse prognostic factor indicating aggressiveness of papillary thyroid carcinoma + pmids: + - "24721322" + - text: Characteristics and prognosis of colorectal cancer with NRAS mutations are different from those with KRAS or BRAF mutations. + pmids: + - "24806883" + - text: The mutations of EGFR and BRAF genes were not found in HER2-mutated patients with brain metastasis from non-small cell lung cancer. + pmids: + - "23744164" + - text: activating V600E BRAF mutation can be frequently demonstrated in pediatric Langerhans cell histiocytosis + pmids: + - "25118810" + - text: 33% of Langerhans cell histiocytosis cases with wild-type BRAF and none with BRAFV600E harbored somatic mutations in MAP2K1 (6 in-frame deletions and 1 missense mutation) that induced extracellular signal-regulated kinase (ERK) phosphorylation in vitro. + pmids: + - "25202140" + - text: "From a practical perspective, small biopsies may not adequately represent a tumor's full mutational profile, particularly for later arising but prognostically important mutations such as those in the KRAS and BRAF genes" + pmids: + - "24742923" + - text: "genetic association study in population in Italy: Data suggest rare BRAF variants (found in 1.6% of all thyroid malignancies) cluster around codon V600 in binding pocket named A-loop of kinase domain leading to greater stability of BRAF conformation." + pmids: + - "24295088" + - text: this study sheds light on the pathogenesis of Serous borderline tumor ovarian tumors by showing that BRAF mutation is associated with cellular senescence + pmids: + - "25188864" + - text: "Based on this methodology and other published results for the BRAF mutation, we believe that it is now feasible and cost effective for the UK NHS to BRAF co-test all Thy4/Bethesda Class V thyroid FNAs." + pmids: + - "24164374" + - text: A combined inhibition strategy targeting BRAF together with multiple erbB family kinases is potentially beneficial for treating BRAF V600E mutant melanoma. + pmids: + - "24709886" + - text: "BRAF mutational analysis by melt curve analysis is feasible in routine thyroid cytology, and in our series had a 100% specificity for PTC in subsequent histology. The application of BRAF analysis could be useful for indeterminate cytology" + pmids: + - "24417615" + - text: Data indicate that BRAF protein overexpression was significantly associated with thyroid extracapsular extension (ECE) and lymph node metastasis (LNM) positive cases. + pmids: + - "24863948" + - text: Serrated colorectal carcinoma as proposed to arise from serrated adenoma is characterized by mutation of BRAF. + pmids: + - "24612059" + - text: "12% of KRAS negative colorectal cancer showed BRAF gene mutation. Considering that 42% of samples have a KRAS mutation, 54% of patients should not respond to therapies with monoclonal antibodies directed against epidermic growth factor (EGFR) pathway." + pmids: + - "24861115" + - text: "Coexisting BRAF V600E and TERT C228T mutations form a novel genetic background that defines PTC with the worst clinicopathologic outcomes, providing unique prognostic and therapeutic implications." + pmids: + - "25024077" + - text: BRAF mutation cannot be regarded as a reliable marker of node metastases in patients with PTC. + pmids: + - "24839220" + - text: we identify KIAA1549-BRAF gene fusions in 45 % of 82 low-grade glioma samples + pmids: + - "24532263" + - text: "Although the sensitive pyrosequencing method was used, no EGFR, KRAS or BRAF mutations could be found" + pmids: + - "24560515" + - text: BRAF mutant/microsatellite stable (MSS) (BRAFmut/MSS) cancers (n = 33) and BRAF mutant/microsatellite unstable (MSI) (BRAFmut/MSI) cancers (n = 30) were compared for presence of copy number aberrations (CNAs) indicative of chromosomal insatbility. + pmids: + - "24651849" + - text: B-cell receptor functions differ in hairy cell leukemia displying BRAF V(600)E and mutated IGHV. + pmids: + - "24497953" + - text: analysis of a possible association between AID expression and BRAF mutation in melanoma + pmids: + - "24684646" + - text: "Although both, DTIC and TMZ act as alkylating agents through the same intermediate, NRAS and BRAF mutant cells responded differentially only to DTIC." + pmids: + - "24941944" + - text: Our results indicate a cross-talk between Braf and p300 in melanoma and demonstrate the importance Braf and p300 expression in the diagnosis and prognosis of melanoma. + pmids: + - "24893747" + - text: "Although BRAF mutation appears to play a role in local tumour progression, it is not a risk factor for poor prognosis or tumour recurrence in papillary thyroid carcinoma" + pmids: + - "23845288" + - text: "Molecular genetic analysis revealed BRAF duplication and a KIAA1549-BRAF fusion gene in 82% of group II tumors, but in none of the group I tumors, and a BRAF:p.V600E mutation in 43% of group I tumors, but in none of the group II tumors" + pmids: + - "24529209" + - text: "In our Near Eastern cohort, the BRAF mutation rate varied significantly by geographic location. In patients with multiple dysplastic nevi examined, discordant BRAF mutation status potentially negates an underlying constitutional predilection" + pmids: + - "23906414" + - text: KRAS and BRAF genes were wild-type in all squamous cell anal carcinoma cases. + pmids: + - "24642661" + - text: Response to this therapy suggests that BRAF inhibitors can affect primary CNS lesions when a documented and targetable mutation is present. + pmids: + - "24725538" + - text: Our results highlight the low incidence of BRAF mutations and CIMP in CRC from Saudi Arabia. + pmids: + - "25005754" + - text: Data indicate that BRAF mutant status and number of positive lymph nodes as the only independent prognostic factors for recurrence-free (RFS) and disease-specific survival (DSS). + pmids: + - "25070294" + - text: NRAS expression and increased MAPK activation drive vemurafenib resistance in V600E BRAF+ve melanoma. + pmids: + - "25063807" + - text: "Our results demonstrated that the BRAF V600E mutation is a common event in melanomas, representing an important molecular target for novel therapeutic approaches in such tumors." + pmids: + - "24535907" + - text: there was no correlation between BRAF-positive primary focus of papillary microcarcinoma and more aggressive or recurrent disease + pmids: + - "24354346" + - text: AKTi combined with BRAFi-based therapy may benefit patients with tumors harboring BRAF mutations and particularly PTEN deletions or AKT mutations. + pmids: + - "24735930" + - text: "BRAF-mutant mCRC is associated with worse clinical outcome. Patients with BRAF-mutant tumors develop peritoneal metastases, less frequently present with disease limited to the liver, and have shorter survival after metastasectomy." + pmids: + - "24737664" + - text: a novel role for B-Raf in the selective regulation of alpha4beta1 integrin-mediated adhesion. + pmids: + - "24936068" + - text: correlation between KRAS or BRAF mutations and prognosis was not observed + pmids: + - "24372748" + - text: No mutations were found in the BRAF gene in a cohort of 84 patients affected by squamous cell anal cancer + pmids: + - "24122611" + - text: "Prevalence of BRAF mutations in CRC patients is not high but extremely correlated with MSI and risk categories as BG, whereas they are absent in LS patients." + pmids: + - "25076244" + - text: Disruption of mutated BRAF signaling modulates thyroid cancer phenotype. + pmids: + - "24673746" + - text: "This study demonstrated that temporal location, reticulin deposition and CD34 expression are associated with BRAF mutation in pleomorphic xanthoastrocytoma." + pmids: + - "24345274" + - text: A novel mechanism for response was discovered whereby high expression level of CAV-1 at the plasma membrane disrupts the BRaf/CRaf heterodimer and thus inhibits the activation of MAPK pathway during dasatinib treatment. + pmids: + - "24486585" + - text: X-ray crystallography reveals a regulatory role for BRAF in the MAPK pathway independent of its kinase activity but dependent on interaction with MEK. + pmids: + - "25155755" + - text: Resistance mechanisms were identified in 58% progressing tumors and BRAF alterations were common. Gene expression analysis revealed that mitogen-activated protein kinase (MAPK) activity remained inhibited in 21% of resistant tumors. + pmids: + - "24463458" + - text: 710 melanomas included in the study were located in sun non-exposed regions of the skin; this category of tumors was characterized by the highest occurrence of BRAF mutations + pmids: + - "25306614" + - text: "Results reveal a BRAF(V600E)-directed pathway that mediates silencing of MLH1 and, more generally, is responsible for CpG Island Methylator phenotype." + pmids: + - "25219500" + - text: Braf(V600E)-driven tumors become addicted to autophagy as a means to preserve mitochondrial function and glutamine metabolism + pmids: + - "24362353" + - text: BRAF and NRAS mutation status does not influence survival in metastatic melanoma. + pmids: + - "24918823" + - text: "Despite being an independent predictor of central node metastasis in small papillary thyroid carcinoma, BRAF did not add substantially to the overall prediction of occult central node metastasis." + pmids: + - "24402044" + - text: "BRAF V600E mutated tumour cells was detected in the cortical tumour component, pronounced leptomeningeal tumoural stroma was predominantly negative for VE1 binding. BRAF V600E mutation affects a subset of desmoplastic infantile astrocytoma/ganglioglioma." + pmids: + - "23822828" + - text: BRAF-mutation analysis should be part of the subtyping of non-squamous NSCLC. + pmids: + - "24552757" + - text: This study shows that BRAF mutation occurs in Nigerian colorectal cancers. + pmids: + - "23310942" + - text: Meta-analysis demonstrated that the BRAF V600E mutation was significantly correlated with adverse pathological features of colorectal cancer and distinct clinical characteristics. + pmids: + - "24594804" + - text: Rapidly metastasizing malignant melanoma characterized by a rare BRAF mutation not responding to vemurafenib + pmids: + - "24238398" + - text: "BRAF V600E immunohistochemistry is reliable for the evaluation of mutational status in colorectal carcinoma regardless of site or prior treatment history, and staining shows a high degree of intratumoral homogeneity." + pmids: + - "24921639" + - text: BRAF V600E is heterogeneously distributed in some papillary thyroid carcinomas(PTCs). The large BRAF V600E neoplastic cell subpopulations found in mutated cases is consistent with the view that the BRAF V600E is acquired early during PTC development. + pmids: + - "24780046" + - text: "BRAF V600E mutations may be more prevalent than previously thought in pediatric patients with papillary thyroid carcinoma, but do not correlate with aggressive disease characteristics" + pmids: + - "24604709" + - text: The BRAF mutation was positive in 37 % of papillary thyroid carcinoma patients. It had no prognostic impact. Cause-specific survival of mutation-positive high-risk patients was poorer than CSS of mutation-negative high-risk patients. + pmids: + - "24052184" + - text: "Mutational events as well as over-expression of BRAF gene are highly implicated, independently, in the pathogenesis of thyroid cancer." + pmids: + - "24442520" + - text: Increased BRAF mutation is associated with colorectal cancer progression and poor response to therapy. + pmids: + - "24659028" + - text: The present study demonstrates that concomitant BRAF mutation and RET/PTC rearrangement is a frequent event in papillary thyroid carcinoma. + pmids: + - "23806056" + - text: BRAF signalling increases Mcl-1 expression in cutaneous metastatic melanoma + pmids: + - "24118207" + - text: "BRAF mutation decreases tumor response in first-line treatment whether cetuximab was given or not in patients with KRAS wild-type, and anti-EGFR MoAb produces a clear benefit in response rate in patients with BRAF and KRAS wild-type." + pmids: + - "24390240" + - text: no significant survival differences were found according to BRAF-V600 tumor mutations in patients with primary melanoma. + pmids: + - "24475086" + - text: The study identifies the BRAFV600E mutation as a significant molecular alteration in malignant peripheral nerve sheath tumors. + pmids: + - "24366910" + - text: RAC1b overexpression constitutes a marker of poor prognosis in KRAS/BRAF WT mCRC patients treated with first-line FOLFOX/XELOX therapy. + pmids: + - "24833563" + - text: "Although VE1 antibody can be useful in the screening of colon carcinomas for BRAF V600E-mutant proteins, molecular genetic confirmation is always necessary for mutation diagnosis." + pmids: + - "24832158" + - text: B-RAF increases the cell surface protein abundance and activity of the type II Na+-coupled phosphate transporters NaPi-IIa and NaPi-IIb. + pmids: + - "24258620" + - text: Molecular genetic tests revealed BRAF V600E mutation. + pmids: + - "24353007" + - text: B-RAF is a powerful regulator of hERG channel activity and cell surface hERG protein abundance. + pmids: + - "24475291" + - text: MSI and the BRAF(V600E) mutation have a prognostic impact in colon cancer + pmids: + - "24964758" + - text: findings suggest that subcategorization of AUS by cytomorphology and BRAF V600E mutation status is important for predicting the risk of malignancy + pmids: + - "24619974" + - text: "Although it has limitations, the VE1 antibody represents a feasible first-line approach for evaluating BRAF mutation status and may be a valid tool in the selection of samples for molecular analysis" + pmids: + - "24639117" + - text: "Classification of serrated lesions using immunohistochemical evaluation of BRAF V600E mutation may identify lesions with higher potential to progression into sessile serrated adenoma/polyp, and further to BRAF V600E-mutated colorectal cancer." + pmids: + - "23887306" + - text: document two rare cases of massively metastatic spinal cord GGs in adult patients who were negative for BRAF V600E mutations via multiple methods + pmids: + - "25015869" + - text: The B-RafV600E mutation detected in melanoma is not associated with a chronic exposure to the sun. + pmids: + - "24424406" + - text: "BRAF mutation appears to be associated with distinct, unfavourable clinicopathological characteristics in colorectal cancer - systematic review and meta-analysis" + pmids: + - "24112392" + - text: BRAF-V600E mutation is associated with younger glioblastoma patients. + pmids: + - "24311634" + - text: This study confirms that the BRAF mutation is differentially detected in each variant of papillary thyroid cancer and is strongly correlated with unfavorable clinicopathologic factors. + pmids: + - "23496275" + - text: BRAF mutation rates varied by geographic location but not based on UV radiation + pmids: + - "23782679" + - text: The presence of BRAF mutations is positively associated with advanced tumor stage in African American colorectal cancer patients. + pmids: + - "24440976" + - text: The study found a high concordance of BRAF mutation status between paired metastases diagnosed at different time points. + pmids: + - "23855428" + - text: "BRAF mutation was significantly associated with a larger tumor size, extrathyroidal invasion and lymph node metastasis in papillary thyroid cancer." + pmids: + - "24559116" + - text: BRAF(V600) mutation is associated with melanoma. + pmids: + - "24958825" + - text: analysis of BRAF mutation and DNA methylation markers on fine needle aspiration biopsy specimens may be a useful strategy to facilitate the diagnosis of malignant thyroid neoplasm + pmids: + - "24588959" + - text: BRAF mutation is asociated with ameloblastoma. + pmids: + - "24859340" + - text: Report detection of BRAF mutations eligible for therapy with vemurafenib in melanoma patients. + pmids: + - "24410877" + - text: BRAF mutation is associated with esophageal squamous cell carcinoma. + pmids: + - "23274581" + - text: "BRAF fusions define a new molecular subset of melanoma, potentially comprising 4% to 8% of \"pan-negative\" cases." + pmids: + - "24345920" + - text: BRAF V600E-mutated protein may be valuable in the diagnostic evaluation of these glioneuronal lesions and the observed association with mTOR activation may aid in the development of targeted treatment involving specific pathogenic pathways + pmids: + - "23941441" + - text: "Summing up the results about the KRAS and the BRAF mutation carriers from our study, the portion of potentially non responsive colorectal cancer patients for the anti-EGFR treatment is 28.26%." + pmids: + - "23849768" + - text: A novel AKT1 mutant amplifies an adaptive melanoma response to BRAF inhibition. + pmids: + - "24265152" + - text: The finding of BRAF mutations in meningeal melanocytomas points to a potential initiating role of BRAF in transformation toward malignancy and could have therapeutic implications in these specific melanocytomas. + pmids: + - "24493731" + - text: BRAF mutations were correlated with poor overall survival in the full patient cohort + pmids: + - "23188063" + - text: Detection of BRAF(V600E) in cytology specimens by pyrosequencing is a useful diagnostic adjunctive tool in the evaluation of thyroid nodules also in elderly subjects + pmids: + - "24267957" + - text: "The kinase activity of BRAFV600E/L505H was higher than that of BRAFV600E, resulting in cross-resistance to a MEK inhibitor" + pmids: + - "24112705" + - text: Frequency of somatic BRAF mutations in melanocytic lesions from patients in a CDK4 melanoma family. + pmids: + - "24256466" + - text: "The KRAS mutation is not present in about one-third of CRC patients, and therefore other gene mutations need to be investigated to better understand the molecular mechanisms of CRC and its treatment." + pmids: + - "24356563" + - text: "BRAF p.V600E colon tumors showed significant MEIS1 promoter methylation, which was associated with decreased MEIS1 gene expression." + pmids: + - "24244575" + - text: The overall survival rate was not significantly different between patients with wild-type BRAF and those with V600E or non-V600E BRAF mutations in an Asian cohort. + pmids: + - "24297085" + - text: results provide evidence that constitutively activated BRAF(V600E) drives aberrant proliferation of monocyte-lineage cells. + pmids: + - "24152792" + - text: BRAF(V600E) mutation is not associated with papillary thyroid microcarcinoma. + pmids: + - "24228637" + - text: "In this large cohort, we found TERT promoter mutations to be common, particularly in Follicular thyroid carcinoma and BRAF mutation-positive papillary thyroid carcinoma, and associated with aggressive clinicopathological characteristics." + pmids: + - "24617711" + - text: "BRAF V600E-mutation in metastatic colorectal cancer characterizes a subgroup of patients with distinct biologic, clinical and pathological features and is associated with very poor patients' prognosis." + pmids: + - "24367680" + - text: BRAF mutation in papillary thyroid carcinoma determined by IHC is associated with significantly increased risk of lymph node recurrence. + pmids: + - "24247620" + - text: We conclude that a V600E BRAF mutation may not be helpful in distinguishing sporadic from MTS-associated sebaceous neoplasms + pmids: + - "24767862" + - text: "When supplemented with other noninvasive test methods, the B-RAF(V600E) test could be a powerful adjunct with extensive clinical applications for diagnosis of thyroid nodules. (review)" + pmids: + - "24167125" + - text: A subset of patients with RAS(wt) CMML harbors BRAF kinase domain mutations that are potentially capable of activating the MAPK signaling pathway. + pmids: + - "24446311" + - text: "results probably indicate that BRAF mutation may not be the only key factor in melanoma tumorigenesis, and that there should be multiple alternative genetic pathways related to melanoma" + pmids: + - "24471189" + - text: BRAF mutation as a new serum marker for papillary thyroid carcinomas were not detectable in patientts diagnosed with thyroid neoplasms. + pmids: + - "23161556" + - text: Prevalence and distribution of pathogenetic mutations in BRAF and NRAS genes were evaluated in multiple melanoma lesions from patients with different geographical origin within the same Italian population. + pmids: + - "23987572" + - text: Mutation occurs at similar frequencies as NRAS in acral lentiginous melanoma of Swedish patients + pmids: + - "23993026" + - text: High rate of BRAF-KIAA1549 fusion is associated with pilocytic astrocytoma. + pmids: + - "24057326" + - text: BRAF mutation is associated with atypia of undetermined significance and papillary carcinoma. + pmids: + - "24591408" + - text: Report safety of vemurafenib in diverse population of patients with BRAF(V600) mutated metastatic melanoma. + pmids: + - "24582505" + - text: analysis of pro-death autophagic processes responsible for sensitization of BRAF-V600E glioma cells toward UAI-201 + pmids: + - "24721513" + - text: "The BRAF mutation represents an additional risk factor only in some subpopulations of colorectal cancers, in others having limited prognostic value." + pmids: + - "24073892" + - text: BRAF(V600E) mutation is predictive for distant metastasis in papillary thyroid carcinoma but not positively. + pmids: + - "23981603" + - text: "mutations in KRAS codon 61, KRAS codon 146, BRAF, NRAS, or PIK3CA detected in Asian patients were not predictive of clinical benefits from cetuximab treatment." + pmids: + - "24006859" + - text: "When genotypes of BRAF/KRAS mutated s-BOTs and corresponding implants were compared, no patient presented with a fully matching mutation profile of s-BOT and all corresponding implants." + pmids: + - "24139521" + - text: This analysis suggests that differences in disease course of PTC in children versus adults are not strongly dependent upon the presence of the BRAF(V600E) mutation. + pmids: + - "24677749" + - text: Melanomas arising in SSD skin have higher mutation loads and contain a spectrum of molecular subtypes compared with BRAF- and NRAS-mutant tumors indicating multigene screening approaches + pmids: + - "23833303" + - text: "Although no melanomas had high-level amplification of BRAF, the two patients with progressive disease as their best response had BRAF copy gain in their tumors" + pmids: + - "23833299" + - text: "the homebrew dispensation sequence unambiguously identifies all known BRAF mutations in this region, whereas the kit-based dispensation sequence has one unresolvable degeneracy that could be solved with the addition of two injections" + pmids: + - "24713734" + - text: Two V600E-negative hairy-cell leukemias had new pote mutations in exon 11 (F468C and D449E). Another HCL was BRAF wild-type in exons 2-17. All non-HCL lymphomas lacked BRAF mutations. + pmids: + - "24433452" + - text: BRAF mutations are associated with lung cancer. + pmids: + - "23817662" + - text: "decreasing the levels of CTR1 (Cu transporter 1), or mutations in MEK1 that disrupt Cu binding, decreased BRAF(V600E)-driven signalling and tumorigenesis in mice and human cell settings" + pmids: + - "24717435" + - text: discordant BRAF mutation status is rare when samples from individual PTCs are compared or when samples from individual PTCs and lymph node metastasis at thyroidectomy are compared but occurs more when primary and recurrent metastasis are compared + pmids: + - "24746198" + - text: Response to vemurafenib suggests that BRAFV600 is an oncogenic driver in pediatric gliomas. + pmids: + - "24375920" + - text: BRAF mutation is associated with the serrated morphology of traditional serrated adenoma + pmids: + - "23960272" + - text: Suggest that some patients with advanced melanoma who are BRAF-mutation positive may benefit from ipilimumab as the first part of their sequential treatment schedule. + pmids: + - "24484235" + - text: "associations were identified between miR-31, BRAF and prognosis in CRC" + pmids: + - "24242331" + - text: BRAF-V600E expression in tissue dendritic cells did not define specific clinical risk groups but was associated with increased risk of recurrence. + pmids: + - "24638167" + - text: "Most of the Korean patients with multifocal papillary thyroid carcinoma (PTC) had the BRAF(V600E) mutation in one or more tumor foci, and all BRAF(V600E)-positive multifocal PTC showed more aggressive features." + pmids: + - "24612623" + - text: "For the 598 (91%) patients with BRAF(V600E) disease, median overall survival in the vemurafenib group was 13.3 months (95% CI 11.9-14.9) compared with 10.0 months (8.0-14.0) in the dacarbazine group (HR 0.75 [95% CI 0.60-0.93]; p=0.0085)" + pmids: + - "24508103" + - text: We evaluated the BRAF V600E expression by immunohistochemistry in pulmonary and extrapulmonary Langerhans cell histiocytosis cases + pmids: + - "24625419" + - text: "Results sugggest that Cdx2 may play a role in the serrated pathway to colorectal cancer with BRAF(V600E), CpG Island Methylator Phenotype (CIMP)-high and mismatch repair (MMR)-deficiency." + pmids: + - "24166180" + - text: "Suppression of TORC1 activity in response to RAF or MEK inhibitors, as measured by decreased phosphorylation of ribosomal protein S6 (P-S6), effectively predicted induction of cell death by the inhibitor in BRAF-mutant melanoma cell lines." + pmids: + - "23903755" + - text: "BRAF, NRAS, and c-Kit molecular analyses among patients affected by nail apparatus melanoma were investigated." + pmids: + - "23782496" + - text: "These cases further expand the range of glial neoplasia in which epithelioid morphology is encountered, and add to the growing list of biphasic tumors harboring the BRAF V600E mutation" + pmids: + - "24321241" + - text: an unexpectedly higher frequency of BRAF mutations was observed in mucosal melanomas in Southern Italy. + pmids: + - "23817129" + - text: Report clinical consequences of high frequency of BRAF mutations in ameloblastoma. + pmids: + - "24374844" + - text: Significant difference in Progression-free survival (PFS) and overall survival (OS)between patients with BRAF mutated and BRAF wild-type tumours was not detected + pmids: + - "23996432" + - text: The Mcl-1 promoter is dependent on a STAT consensus-site for B-RAF-mediated activation. + pmids: + - "23455323" + - text: evaluated the survival impact of MET expression in patients with BRAF(V600E/K) advanced melanoma treated with vemurafenib + pmids: + - "23802768" + - text: "BRAF mutation in the elderly is also exclusive of papillary carcinoma and is often significant. Furthermore, it is related to the classic variant and possibly to thyroid extravasation" + pmids: + - "23752636" + - text: "Nonsmall cell lung cancer cells with BRAF-V600E, but not other BRAF mutations, initially are sensitive to BRAF-inhibitor treatment, but rapidly acquire resistance to BRAF inhibition." + pmids: + - "24550319" + - text: Human neural crest progenitor cells are susceptible to BRAF(V600E)-induced transformation. + pmids: + - "23334329" + - text: "BRAF inhibition causes decreased CXCL8 secretion from melanoma cells and induce an immune response against the tumor associated with increased IFN-gamma, CCL4, and TNF-alpha." + pmids: + - "24489105" + - text: "The frequencies of EGFR, KRAS, BRAF, and HER-2 mutations in BM-NSCLC were 2.6, 38.5, 0, and 0% respectively." + pmids: + - "23930206" + - text: "Provided there is adequate quantity of viable tumor cells, immunohistochemical testing any melanoma sample from a patient with metastatic disease will accurately determine BRAF status." + pmids: + - "24335665" + - text: "we sought to analyze the nature of IC and EC response and progression in patients with melanoma brain metastases treated with dabrafenib, and hypothesized that metastases respond and progress similarly to BRAF inhibitors." + pmids: + - "24496868" + - text: TIMP-1 protein expression is a reliable surrogate marker for BRAF(V600E)-mutated status in papillary thyroid carcinoma + pmids: + - "23893334" + - text: "BRAF (V600E) is non-associated with Gal-3 expression, whereas it is associated with cytoplasmatic localization of p27kip1 and higher CK19 expression in papillary thyroid carcinoma." + pmids: + - "23203004" + - text: no association with BRAF-V600E mutation in gastroeosophageal tumors + pmids: + - "23343956" + - text: We found BRAF mutations in 13/61 of the melanoma lesions and V600K predominated over V600E. + pmids: + - "24026210" + - text: Targeted genotyping revealed BRAF p.Val600Glu in 95% of papillary craniopharyngiomas. + pmids: + - "24413733" + - text: BRAF mutations are associated with colorectal neoplasms. + pmids: + - "23773459" + - text: This study demonistrated that Dysembryoplastic neuroepithelial tumors share with pleomorphic xanthoastrocytomas and gangliogliomas BRAF(V600E) mutation and expression. + pmids: + - "23442159" + - text: BRAF mutation is associated with poor response to anti-EGFR MoAbs and it is an adverse prognostic biomarker of the survival of patients with metastatic colorectal cancer. + pmids: + - "23615046" + - text: BRAF protein mutation can be reliably detected in patients diagnosed with papillary thyroid carcinoma. + pmids: + - "24039206" + - text: "Although moderate or strong cytoplasmic staining is specific for BRAF V600E mutations in colorectal adenocarcinoma, the VE1 monoclonal antibody is insufficiently sensitive to serve as an effective screening tool." + pmids: + - "23763264" + - text: "the role of BRAF mutations in melanoma and colorectal cancer, focusing on similarities and differences of BRAF mutations (Review)" + pmids: + - "23246082" + - text: Findings support the development of CDK and Raf co-targeting strategies in EGFR/HER-2-overexpressing or RAS/RAF mutant breast cancer (BC). + pmids: + - "23908594" + - text: Data indicate that the median time to progression (TTP) 8.9 months is close to the promising BRAF- and MEKi combination therapy with median progression-free survival (PFS) 9.4 months. + pmids: + - "24183461" + - text: We found that inherited variants of CDKN2A have no effect on the prevalence of BRAF/NRAS mutations in melanoma. + pmids: + - "23771122" + - text: "study characterized the multiple-dose pharmacokinetics of vemurafenib 240-960 mg twice daily (bid) in BRAF(V600E) mutation-positive metastatic melanoma patients, using the commercial formulation" + pmids: + - "24178368" + - text: "As heterogeneity with respect to BRAF mutation status is detected in melanoma patients, subsequent testing of initially wild-type patients can yield different results and thus make BRAF inhibitor therapy accessible." + pmids: + - "24196789" + - text: The presence of NRAS or BRAF mutations in a mutually exclusive pattern in roughly half (47%) of conjunctival melanomas and the pattern of CNAs argue for conjunctival melanoma being closely related to cutaneous and mucosal melanoma + pmids: + - "23633454" + - text: the presence of a BRAF- or NRAS mutation in a nevus was not associated with the risk of malignant transformation. + pmids: + - "23861977" + - text: Our studies have identified a previously unrecognized regulatory role of Lys63-linked polyubiquitination in BRAF-mediated normal and oncogenic signalings. + pmids: + - "23907581" + - text: Molecular analysis of the BRAF T1799A mutation in fine needle aspiration biopsy specimens has high specificity and positive predictive value for papillary thyroid carcinoma + pmids: + - "23534744" + - text: the clinical pathological relevance of BRAF mutation in cancer (Review) + pmids: + - "23594689" + - text: "EGF, which signals through CRAF, and an activated BRAF mutant also activate PKC and stimulate cell migration through up-regulating RFFL expression." + pmids: + - "24114843" + - text: study suggests that highly aggressive papillary thyroid microcarcinoma may arise in a subset of patients with BRAF(V600E) mutation and tumors greater than 5 mm; multivariate analysis showed that tumor recurrence was not associated with BRAF(V600E)mutation + pmids: + - "23370668" + - text: B-Raf mutations are associated with cancer. + pmids: + - "24161954" + - text: analysis suggests that BRAF mutations occur at a low frequency in chronic lymphocytic leukemia + pmids: + - "23088640" + - text: "There was no significant association between BRAF positivity and tumor multicentricity, lymphovascular invasion, extranodal extension, central neck involvement, advanced stage (stage III or IV), and distant metastasis." + pmids: + - "24030686" + - text: "Of 54 intrahepatic cholangiocarcinoma cases, 7.4% were mutant for KRAS, 7.4% were mutant for BRAF, and these were mutually exclusive. These cases were associated with a higher tumor stage and a greater likelihood of lymph node involvement." + pmids: + - "24139215" + - text: used a mutation-specific antibody for immunohistochemical detection of the BRAF V600E mutation and correlated expression with clinicopathologic features in papillary thyroid carcinoma + pmids: + - "23931769" + - text: hypothesize that the level of SPRY2 expression contributes to MAPK/ERK pathway output and accounts for BRAF V600E+ and clinical heterogeneity in papillary thyroid cancer + pmids: + - "24094449" + - text: Data indicate that phosphorylation of BRAF by AMPK disrupts its association with KSR1. + pmids: + - "24095280" + - text: BRAF alterations are associated with pediatric low grade gliomas and mixed neuronal-glial tumors. + pmids: + - "23612919" + - text: "The results indicate that BRAF mutant is a predictive biomarker for poor prognosis in mCRC patients undergoing anti-EGFR MoAbs therapy, especially in KRAS WT patients" + pmids: + - "23776587" + - text: low BRAF as well as NRAS expression levels were associated with a longer progression-free survival in the total population + pmids: + - "23673558" + - text: The low incidence of BRAF mutation limited assessment of its prognostic impact. + pmids: + - "24104864" + - text: the association between BRAF V600E mutation and aggressive features of papillary thyroid cancer + pmids: + - "23969188" + - text: "consistent with previous studies, it was concluded that the incidence of BRAF V600E mutation in adult acute lymphoblastic leukemia, if any, is extremely infrequent" + pmids: + - "23009221" + - text: detection of BRAF V600E in colorectal cancer specimens by immunohistochemistry is sensitive and specific and may help to identify Lynch syndrome patients + pmids: + - "23963522" + - text: the BRAF V600E mutation is not pathobiologically relevant in primary central nervous system lymphoma + pmids: + - "23235345" + - text: "A combination of solid nodules, nodules with irregular contours, symptomatic nodules, and positive BRAF mutation has high predictive value for malignancy in patients with thyroid follicular lesion of undetermined signifi-cance." + pmids: + - "23595630" + - text: This study demonstrated that either BRAF or RAS mutations were present in two thirds of follicular variants of papillary thyroid carcinomas and these mutations were mutually exclusive. + pmids: + - "23625203" + - text: "These findings demonstrate the presence of mutation-specific clinical differences between different BRAF genotypes in patients with melanoma, and support the incorporation of this information in patient evaluation and clinical trial design." + pmids: + - "23922205" + - text: "In human BRAF papillary thyroid carcinomas, ERK kinase phosphorylation is decreased compared to normal thyroid glands." + pmids: + - "23544999" + - text: Data indicate that concurrent BRAF and PI3K/mTOR blockade results in induction of apoptosis. + pmids: + - "23549875" + - text: BRAFV600E mutation is not associated with papillary thyroid carcinoma. + pmids: + - "23687957" + - text: An analysis of BRAF mutations in fast-growing melanomas. + pmids: + - "23448684" + - text: "Data indicate that besides confirming the constant presence of BRAF-V600E in all patients with hairy cell leukemia, phospho-ERK1/ERK2 expression was observed." + pmids: + - "23349307" + - text: "In this manuscript, we provide an overview of the emerging scientific literature on dermatological adverse events arising out of BRAF inhibition." + pmids: + - "23463215" + - text: HSP60 protein expression may inhibit lymph node metastasis in papillary thyroid carcinomas harboring the BRAF mutation. + pmids: + - "24123003" + - text: "Data indicate that of the 32 cardio-facio-cutaneous syndrome (CFC) patients, 28 (88%) had a known mutation in a gene that is causative for CFC, including BRAF (n = 21), MEK1 (n = 2), MEK2 (n = 4), and KRAS (n = 1)." + pmids: + - "22946697" + - text: A BRAF mutation-specific (V600E) antibody detected tumors with BRAFV600E mutations and exhibited complete concordance with a DNA-based method. + pmids: + - "23657789" + - text: BRAF mutations were detected in 2 amelanotic acral melanoma cases + pmids: + - "23972510" + - text: The status of BRAF(V600E) mutation was more frequent in multifocal PTC patients with lymph node metastasis and diagnosis at later age. + pmids: + - "23253715" + - text: "BRAF V600E mutation was detected in 41/71 (58 %) gangliogliomas by immunohistochemistry, DNA sequencing was concordant in 60 of 62 analyzed cases, and BRAF V600E-mutated protein was localized predominantly to the neuronal compartment." + pmids: + - "23435618" + - text: "Findings show that KIT and BRAF mutations are only rarely present in SNMMs, whereas NRAS mutations seem to be relatively more frequent." + pmids: + - "23860532" + - text: Ras-mutant cancer cells display B-Raf binding to Ras that activates extracellular signal-regulated kinase and is inhibited by protein kinase A phosphorylation + pmids: + - "23893412" + - text: BRAF mutations are found in 2 to 4% of non-small cell lung cancers. The mutations harbor non-V600E mutations in 40 to 50% of cases. A phase 2 trial of dabrafenib described 8 responses of 20 patients with BRAF V600E mutant NSCLC + pmids: + - "23841470" + - text: Mortalin mediates a switch in tumor-suppressive signaling of Raf/MEK/extracellular signal-regulated kinase. + pmids: + - "23959801" + - text: "Sinonasal intestinal-type adenocarcinomas share common alterations of the EGFR pathway with colorectal adenocarcinomas, except for a lower frequency of KRAS and BRAF mutations." + pmids: + - "23791006" + - text: results suggest that mutant B-RAF signaling downregulates Tiam1/Rac activity resulting in an increase in N-cadherin levels and a decrease in E-cadherin levels and ultimately enhanced invasion + pmids: + - "23208503" + - text: "Data indicate that tumor regression was seen in three of five patients with BRAF-mutated, low pAKT melanomas." + pmids: + - "23444215" + - text: Co-amplification of these candidate genes or the CCND1 amplification along with either BRAF or NRAS mutations might be more important for prognosis than the presence of these alterations alone. + pmids: + - "23795354" + - text: demonstrating that the BRAF(T1799A) mutation is a clonal event in thyroid cancer + pmids: + - "23775351" + - text: We show that (V600E)BRAF upholds the activity of glycolysis and therefore the addiction to glycolysis de facto becomes an addiction to (V600E)BRAF. + pmids: + - "23603840" + - text: "Case Report: BRAF mutation documented in folliculotropic metastatic melanoma." + pmids: + - "23715079" + - text: Detection of the BRAF V600E mutation in colorectal cancer by immunohistochemistry is a viable alternative to molecular methods + pmids: + - "23650027" + - text: High BRAF is associated with metastatic melanoma. + pmids: + - "23307859" + - text: This study demonstrated the absence of consistent recurrent chromosomal alterations in desmoplastic infantile astrocytomas and desmoplastic infantile gangliogliomas and overall rarity of the BRAF mutation in these tumors. + pmids: + - "23965740" + - text: Increased BRAF mutation with age along with the lack of a UVR magnitude-BRAF mutation association suggests that duration of exposure rather than UVR exposure dose is the more likely link to acquiring mutations in melanocytic nevi. + pmids: + - "23051629" + - text: BRAF mutations are associated with papillary thyroid carcinoma. + pmids: + - "23725167" + - text: No evidence existed for a differential prognostic role of BRAF mutation by MSI status (P(interaction) > .50). Combined BRAF/MSI status in colorectal cancer is a tumor molecular biomarker for prognosic risk stratification. + pmids: + - "23878352" + - text: The BRAF gene polymorphism (rs10487888) may not be a genetic determinant for increasing the risk of chronic periodontitis among the Iranian population + pmids: + - "23412871" + - text: The overall BRAF V600E mutation rate was 70.4% and 100% in tall cell variant. + pmids: + - "23580256" + - text: and SSCA followed by Sanger sequencing are effective two-step strategies for the detection of BRAF mutations in the clinical setting. + pmids: + - "23584600" + - text: "Studied the cytotoxicity and anti-tumour activity of novel MEK inhibitor, E6201, in a panel of melanoma cell lines. Most melanoma cell lines were sensitive or hypersensitive to E6201; the sensitivity correlated with wildtype PTEN and mutant BRAF status." + pmids: + - "23039341" + - text: "About one fourth of mCRC cases wild-type for KRAS codons 12 and 13 present other mutations either in KRAS, BRAF, or PIK3CA, many of which may explain the lack of response to anti-EGFR therapy observed in a significant proportion of these patients." + pmids: + - "23548132" + - text: prevalence of the BRAF(V600E) mutation increased with increased tumor size + pmids: + - "22488961" + - text: A BRAF mutation was only detected in a single Japanese gastric cancer. + pmids: + - "23511561" + - text: report that Mps1/AKT and B-Raf(WT)/ERK signaling form an auto-regulatory negative feedback loop in melanoma cells + pmids: + - "23726842" + - text: "demonstrate dose-dependent effects of oncogenic signaling, with physiologic Braf(V600E) expression being sufficient for hyperplasia induction" + pmids: + - "23845441" + - text: BRAF mutations were associated with reduced overall survival among patients with cololectal cancer without KRAS mutations in exon 2 and among those with NRAS mutations in exon 3. + pmids: + - "24024839" + - text: "Selumetinib plus dacarbazine showed clinical activity in patients with BRAF-mutant cutaneous or unknown primary melanoma, reflected by a significant benefit in progression-free survival." + pmids: + - "23735514" + - text: Preoperative mutation screening for BRAF(V600E) does not meaningfully improve risk stratification and is unlikely to alter the initial management of patients with indeterminate nodules. + pmids: + - "23280049" + - text: "follow-up BRAFV600E mutation analysis may be helpful in the diagnosis of selected thyroid nodules negative for BRAFV600E mutation on initial analysis, which are assessed as suspicious malignant on ultrasonography." + pmids: + - "23505540" + - text: The findings support the hypothesis that BRAF-mutated cells may show resistance to the anticancer effects of aspirin in patients with colorectal cancer. + pmids: + - "23800934" + - text: "One hundred and ten patients (51%) were identified who were potentially nonresponders to anti-EGFR therapy: 13/117 (11.1%) had the V600E BRAF mutation." + pmids: + - "23125007" + - text: "ARAF seems to stabilize BRAF:CRAF complexes in cells treated with RAF inhibitors and thereby regulate cell signaling in a subtle manner to ensure signaling efficiency" + pmids: + - "22926515" + - text: Findings support the potential use of immunohistochemistry as an ancillary screening tool to assess the BRAFV600E mutation status in primary cutaneous melanoma. + pmids: + - "23041829" + - text: "We found BRAF(V600E) mutations in the melanocytic nevi to be fully clonal, strongly suggesting that BRAF-activating mutations typically are early initiating events in melanocytic neoplasia." + pmids: + - "23690527" + - text: Results demonstrated the action of Dabrafenib and the inhibition of MAPK pathway in melanoma cell lines carrying BRAFV600D/R mutations; these results could be helpful to enlarge the number of patients who may benefit of a more effective targeted treatment + pmids: + - "23317446" + - text: BRAF and codon 12 KRAS mutations predict for adverse outcome of colorectal cancer patients receiving cetuximab. + pmids: + - "23374602" + - text: Data indicate that BRAF and EGF receptor or SRC family kinase inhibition blocked proliferation and invasion of the resistant tumors. + pmids: + - "23242808" + - text: BRAF mutations enhance the predictability of malignancy in thyroid follicular lesions of undetermined significance. + pmids: + - "22156468" + - text: The BRAF V600E mutation is associated with a higher pathological stage at surgery and a higher rate of recurrence. + pmids: + - "22156467" + - text: RSK regulates activated BRAF signalling to mTORC1 and promotes melanoma growth + pmids: + - "22797077" + - text: BRAF (V600E) mutation is associated with papillary thyroid microcarcinoma. + pmids: + - "23192956" + - text: "AURKB and WEE1 are targets and biomarkers of therapeutic efficacy, lying downstream of (V600E)B-RAF in melanomas." + pmids: + - "23416158" + - text: Aim of this work is to provide a detailed comparison of clinical-pathologic features between well-differentiated and poorly differentiated tumors according to their BRAF and RASSF1A status. + pmids: + - "23192464" + - text: Pulmonary Langerhans cell histiocytosis appears to be a clonal proliferation that may or may not have BRAF V600E mutations. + pmids: + - "23287985" + - text: BRAF mutation is suggested to be poor prognostic factors in CRLM. + pmids: + - "23010994" + - text: BRAF (V600E) mutation is associated with papillary thyroid carcinomas. + pmids: + - "23179992" + - text: No BRAF V600E mutations were detected in nonserous epithelial ovarian tumors. + pmids: + - "22820660" + - text: BRAF mutations is associated with colorectal cancer. + pmids: + - "23324583" + - text: "This is the first report of BRAF V600E mutation in endometrial cancer, indicating that it may contribute to tumorigenesis of endometrial cancer, although at a low frequency compared with KRAS mutations." + pmids: + - "23370429" + - text: "This report is the first to identify the rare, variant BRAF V600D mutation in LCH, and provides support for constitutively activated BRAF oncogene-induced cell senescence as a mechanism of regression in congenital, benign LCH." + pmids: + - "22996177" + - text: "BRAF(V600E) mutation is an early event in thyroid carcinogenesis, and is associated with distinctive morphology and aggressive features even in papillary thyroid microcarcinomas" + pmids: + - "22918165" + - text: BRAF mutation shows clinical significance in the prognosis of thyroid papillary cancer. + pmids: + - "23482475" + - text: Establishment of molecular subgroups based on KRAS and BRAF mutation status is important and should be considered in future prognostic studies in colorectal carcinoma. + pmids: + - "23660947" + - text: "Accurate diagnosis of rare BRAF mutations is crucial. Pyrosequencing is accurate, highly sensitive, reliable, and time saving to detect rare BRAF mutations." + pmids: + - "23579220" + - text: "The present study revealed that ESCC of Brazilian patients do not present mutations in hot spots of EGFR, K-RAS and BRAF and only a minor proportion present overexpression of EGFR or HER2." + pmids: + - "23207070" + - text: Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to neurofibromatosis + pmids: + - "23190154" + - text: BRAF(V600E) increases migration and invasion of thyroid cancer cells via upregulation of Snail with a concomitant decrease of its target E-cadherin. + pmids: + - "23435375" + - text: "we deduce that in the absence of mutation activation, B-Raf overexpression or downregulation is a protective event, since it delays the development of both malignant and benign thyroid tumors." + pmids: + - "23263826" + - text: The detected Merkel cell polyomavirus prevalence in non-small cell lung cancer in combination with the deregulated expression of BRAF and Bcl-2 genes suggests that these events are likely to contribute to the pathogenesis of non-small cell lung cancer. + pmids: + - "23355004" + - text: "Alternative splicing of exons 14, 15, 15b, 16b and 16c occurs in a considerable fraction of BRAF mRNA in normal colon and colorectal cancer cells and is independent of the V600E mutational status of the parental allele." + pmids: + - "23354951" + - text: Braf mutations were not associated with the risk of lymph node metastasis in papillary thyroid carcinoma. + pmids: + - "23636013" + - text: The BRAF V600E mutation is the only independent predictor of compartment lymph node metastasis in papillary thyroid carcinoma. + pmids: + - "22941165" + - text: study identified two miRNAs (miR-21* and miR-203 that are differentially expressed in papillary thyroid carcinoma tissues with BRAF(V600E) and revealed their associations with clinicopathological features + pmids: + - "23416953" + - text: A systematic review and meta-analysis revealed that BRAF mutation is an absolute risk factor for patient survival in colorectal cancer and melanoma. + pmids: + - "23056577" + - text: Aberrant BRAF splice variants with deletions in both kinase and RAS-binding domains in rheumatoid arthritis patients demonstrate that these BRAF splice variants constitutively activate MAPK through CRAF + pmids: + - "23517740" + - text: "in cells expressing KIAA1549-BRAF, the fusion kinase functions as a homodimer that is resistant to PLX4720 and accordingly is associated with CRAF-independent paradoxical activation of MAPK signaling" + pmids: + - "23533272" + - text: "genetic association studies in population in Italy: Data suggest that V600E mutation in BRAF in subjects with papillary thyroid carcinomas with/without lymph node metastases is not associated with disease progression." + pmids: + - "23533235" + - text: "BRAF V600E mutation may identify a subset of grade 2 diffuse gliomas that have a distinct phenotype, incl. supratentorial location, chronic seizure disorder, and atypical radiographic and histologic features." + pmids: + - "23547069" + - text: BRAFV600E mutation is associated with cervical lymph node metastasis and recurrence in papillary thyroid cancer. + pmids: + - "23132792" + - text: Antitumor effects of vemurafenib are mediated by inhibiting oncogenic MAPK signaling in BRAF(V600)-mutant metastatic melanoma. Data suggest that inhibition downstream of BRAF should help to overcome acquired resistance. + pmids: + - "23569304" + - text: No point mutations were identified in BRAF codon Val600Glu in the studied colorectal adenocarcinomas in the Turkish population. + pmids: + - "23297805" + - text: K-RAS and B-RAF mutations do not seem to be predictive of treatment outcome as potential biomarkers for bevacizumab therapy in metastatic colorectal cancer. + pmids: + - "23613396" + - text: Report BRAF mutations in ovarian serous carcinoma. + pmids: + - "23388101" + - text: "found a significantly increased risk of papillary thyroid carcinoma attributed to the SNP variants rs17161747, rs1042179, and rs3748093 for those with a family history of cancer, for smokers, and for both those of age <45 years and nondrinkers" + pmids: + - "22973979" + - text: Results document the expression of RAC1b in normal thyroid cells as well as overexpression in a subset of PTCs. They suggest a possible interplay between BRAF V600E and RAC1b contributing to poor clinical outcome. + pmids: + - "23482591" + - text: B-Raf/MKK/ERK controls key aspects of cancer cell behavior and gene expression by modulating a network of miRNAs with cross-regulatory functions. + pmids: + - "22751131" + - text: "KRAS and BRAF mutations are infrequent or absent, respectively in Intestinal-type sinonasal adenocarcinoma" + pmids: + - "23055340" + - text: "The novel melanoma cell lines were compared to metastatic cell lines (HBL, LND1), wild type (wt) for MC1R and BRAF genes." + pmids: + - "23489693" + - text: BRAF V600E mutation testing modifies sensitivity or specificity of the Afirma Gene Expression Classifier in cytologically indeterminate thyroid nodules. + pmids: + - "23476074" + - text: V600R mutation and double (V600E -V600M) mutation were identified in two melanomas + pmids: + - "23463675" + - text: Our findings confirm that BRAF mutations originate in the serrated epithelium of colonic perineuriomas with crypt serration + pmids: + - "23588369" + - text: V600E point mutation was identified in the BRAF gene in 3 intramucosal nevi and in 2 melanomas. Only 1 blue nevus harbored the GNAQ209 mutation + pmids: + - "23159116" + - text: A K601E BRAF mutation is associated with papillary thyroid carcinoma. + pmids: + - "22887810" + - text: A high percentage of epithelioid giant cell glioblastoma multiformemanifest BRAF V600E mutation + pmids: + - "23552385" + - text: "Studies indicate that BRAF mutations are identified in 40-50% of patients with melanoma, and treatment with either of two BRAF inhibitors (vemurafenib, dabrafenib) or the MEK inhibitor trametinib is associated with improved clinical benefit." + pmids: + - "23290787" + - text: BRAF mutation is associated with pleomorphic xanthoastrocytomas with anaplastic features. + pmids: + - "23096133" + - text: melanomas with activation of the BRAF/MAPK pathway have suppressed levels of MITF and PGC1alpha and decreased oxidative metabolism + pmids: + - "23477830" + - text: "Desmoplastic malignant melanoma: a study of ten cases and status of BRAF mutation." + pmids: + - "23095503" + - text: "Studies identified 21 deleterious mutations MLH1, MSH2, MSH6 and BRAF." + pmids: + - "23401454" + - text: MITF-BCL2A1 as a lineage-specific oncogenic pathway in melanoma and underscore its role for improved response to BRAF-directed therapy. + pmids: + - "23447565" + - text: "In CRC patients treated with cetuximab, activating mutation signatures for BRAF (58 genes) were developed." + pmids: + - "22798500" + - text: "The role of BRAF V600E as targetable driver mutation in lung adenocarcinoma is strengthened by finding that in vivo expression of V600E in mice leads to development of invasive adenocarcinoma, a phenotype that is reversed when V600E expression is stopped." + pmids: + - "23401445" + - text: BRAF (V600) mutations are are associated with melanomas. + pmids: + - "22772867" + - text: We found that NRAS-mutant melanomas were significantly more likely from older patients and BRAF-mutant melanomas were more frequent in melanomas from the trunk. + pmids: + - "23096702" + - text: Histopathologic changes suggesting prolapsed rectal mucosa should take precedence over BRAF results in diagnosing sessile serrated adenomas in the rectum. + pmids: + - "23069257" + - text: "Codon 12, 13 in KRAS gene and codon 600 in BRAF gene are the most common mutation points in Chinese colorectal cancer. KRAS and BRAF mutations are mutually exclusive. KRAS and BRAF gene mutation is higher in females than that in males." + pmids: + - "23157824" + - text: "In Chinese colorectal carcinoma patients, BRAF mutation is associated with tumor differentiation and primary tumor sites." + pmids: + - "23157823" + - text: "Mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not associated with sporadic vestibular schwannomas." + pmids: + - "23224067" + - text: "This study reveals a novel mechanism of immune suppression sensitive to BRAF(V600E) inhibition, and indicates that clinical blockade of IL-1 may benefit patients" + pmids: + - "22850568" + - text: Patients with V600R BRAF mutations can be treated successfully with oral BRAF inhibitors. + pmids: + - "23237741" + - text: Higher response rates and longer time to progression were observed with selumetinib-containing regimens in patients who had melanoma that harbored a BRAF mutation. + pmids: + - "22972589" + - text: "Our results suggest that in a small fraction of diffuse gliomas, KIAA1549-BRAF fusion gene and BRAF(v600E) mutation may be responsible for deregulation of the Ras-RAF-ERK signaling pathway" + pmids: + - "22591444" + - text: These results suggest that low-grade diffuse gliomas with 1p/19q loss have frequent BRAF gains + pmids: + - "22568401" + - text: A review summarizes the role of the BRAF V600E mutation in the development and progression of thyroid cancer. + pmids: + - "22858857" + - text: we found no cases of Rosette-forming glioneuronal tumors of the fourth ventricle showing KIAA1549-BRAF gene fusion or BRAF (V600E) mutation + pmids: + - "22814862" + - text: "study concludes that generally, overweight increases the risk of colorectal cancer; taller individuals have an increased risk of developing a tumour with a BRAF mutation or microsatellite instability" + pmids: + - "22531127" + - text: Ras pathway activation via EGF treatment induced strong binding between B-Raf and C-Raf and a low level of binding between B-Raf and A-Raf. + pmids: + - "23352452" + - text: expression of these oncogenes markedly stimulated ERK1/2 activities and morphologically transformed IECs. Importantly however + pmids: + - "22430215" + - text: "Study demonstrates that chromosomal instability commonly occurs in advanced BRAF mutant/MSS colorectal cancers where it may contribute to poorer survival, and further highlights molecular similarities occurring between these and BRAF wild type cancers." + pmids: + - "23110075" + - text: Data suggest that the BRAF V600E mutation does not seem to play a role in myeloid malignant transformation. + pmids: + - "22339435" + - text: Clinical characteristics of colorectal cancer with the V600E BRAF mutation. + pmids: + - "23138171" + - text: "Data suggest that BRAF V600E mutation may not be widespread in hematologic malignancies, excluding hairy-cell leukemia (HCL)." + pmids: + - "22639828" + - text: "In this retrospective multicenter study, the presence of the BRAF V600E mutation was significantly associated with increased cancer-related mortality among patients with papillary thyroid carcinom" + pmids: + - "23571588" + - text: "We propose that , and that persistent phosphorylation of Mps1 through BRAF(V600E) signaling is a key event in disrupting the control of centrosome duplication and chromosome stability that may contribute to tumorigenesis." + pmids: + - "22430208" + - text: "Studied differential miRNA expression in metastatic colorectal cancer by microarrays from primary tumors of 33 patients who had wild-type KRAS/BRAF and third- to sixth-line anti-EGFRmAb treatment, with/without irinotecan." + pmids: + - "23098991" + - text: "genetic association studies in population in Turkey: Data suggest that a mutation in BRAF (V600E; found in 39.45% of patients) is associated with aggressiveness of papillary thyroid neoplasms; lymph node metastasis increases when mutation is present." + pmids: + - "22426956" + - text: Kidins220 is a novel T-cell receptor (TCR)-interacting protein that couples B-Raf to the TCR. Kidins220 is mandatory for sustained Erk signaling and is crucial for TCR-mediated T cell activation. + pmids: + - "23359496" + - text: "B-RAF upregulates SGLT1 activity, an effect requiring vesicle insertion into the cell membrane." + pmids: + - "23010278" + - text: Investigated BRAF and RAF1 alterations in Chinese prostate cancer.Found BRAF truncated in five of 200 informative Chinese cases & RAF1 was truncated in three of 204 informative cases and genomic rearrangements were correlated w/high Gleason scores. + pmids: + - "22833462" + - text: "MSI status, KRAS and BRAF mutation rates varied remarkably among the colonic carcinoma subsites irrespective of right- and left-sided origin." + pmids: + - "22898351" + - text: BRAF mutation is associated with early stage disease and improved outcome in patients with low-grade serous ovarian cancer. + pmids: + - "22930283" + - text: "These findings indicate that ABCG2 confers resistance to vemurafenib in A375 cells, suggesting involvement of this transporter in acquired resistance to vemurafenib." + pmids: + - "23153455" + - text: Braf mutation status is not significantly associated with poor survival for melanoma in Koreans. + pmids: + - "23014346" + - text: "In papillary thyroid carcinoma BRAFV600E is associated with increased expression of the urokinase plasminogen activator and its cognate receptor, but not with disease-free interval." + pmids: + - "22702340" + - text: The presence of BRAF mutations in these adenomatous precursors to colon cancer suggests that they represent sessile serrated adenomas with complete cytologic dysplasia. + pmids: + - "22684223" + - text: Preoperative BRAF mutation was a predictive factor for occult contralateral papillary thyroid microcarcinoma presence. + pmids: + - "22799316" + - text: "We conclude that the presence of BRAF mutation, NRAS mutation, and the absence of an immune-related expressed gene profile predict poor outcome in melanoma patients with macroscopic stage III disease." + pmids: + - "22931913" + - text: "BRAF V600E mutations are present in approximately 90% of all kidney metanephric adenoma cases, serving as a potential valuable diagnostic tool in the differential diagnosis." + pmids: + - "22727996" + - text: "Mutation BRAF transforms cells through cross talk with developmental pathways Hedgehog and Wnt, as well as by deregulation of colorectal cancer related kinase pathways." + pmids: + - "22515520" + - text: "Data indicate that mutation frequency in malanoma patients was found witih BRAF(V600) in 51%, NRAS in 19%, PI3K pathway in 41% and PTEN in 22%." + pmids: + - "22912864" + - text: Hairy cell leukemia cell lines expressing annexin A1 and displaying B-cell receptor signals characteristic of primary tumor cells lack the signature BRAF mutation to reveal unrepresentative origins. + pmids: + - "22705994" + - text: "data confirm that among lymphoproliferative disorders, BRAF V600E mutation is restricted to hairy cell leukemia (HCL); no mutations were identified in variant HCL, NMZL, ENMZL, PTLD, PTCL, ALCL, or LGL proliferations" + pmids: + - "23161722" + - text: "Data indicate that the presence of the BRAF V600E mutation was more frequent in women, but this gender difference was not statistically significant." + pmids: + - "23157614" + - text: High-throughput genotyping in metastatic esophageal squamous cell carcinoma identifies phosphoinositide-3-kinase and BRAF mutations. + pmids: + - "22870241" + - text: these results link epigenetic genes to methylation and suppression of tumor suppressor genes as a mechanism involved in BRAFV600E-promoted melanoma tumorigenesis and uncover a novel molecular signature that predicts a poor prognosis of melanoma. + pmids: + - "22820187" + - text: "EGFR and downstream genetic alterations in KRAS/BRAF and PI3K/AKT pathways have roles in colorectal cancer and treatment [review]" + pmids: + - "23021375" + - text: Immunohistochemistry is highly sensitive and specific for the detection of V600E BRAF mutation in melanoma. + pmids: + - "23026937" + - text: The BRAF(V600E) mutation was demonstrated to be a poor prognostic factor for the persistence of the disease independent from other clinical-pathological features in low-risk intrathyroid papillary thyroid carcinoma patients. + pmids: + - "23066120" + - text: "BRAF mutation was associated with lymph node metastases (LNM), advanced stage, extrathyroidal extension, tumor size, male gender, multifocality, absence of capsule, classic PTC, and tall-cell variant papillary thyroid cancer." + pmids: + - "23055546" + - text: BRAF V600E mutation is associated with response to vemurafenib in lung adenocarcinoma. + pmids: + - "22743296" + - text: BRAF V600E mutation in low and intermediate grade lymphomas is associated with frequent occurrence in hairy cell leukaemia. + pmids: + - "22246856" + - text: the impact of BRAF mutation and microsatellite instability on prognosis in metastatic colorectal cancer + pmids: + - "21456008" + - text: BRAF V600E mutation revealed a strong association with specific histological variants of papillary thyroid carcinoma. + pmids: + - "22732794" + - text: Data show clinical significance to BRAF(L597) mutations in melanoma. + pmids: + - "22798288" + - text: "study reports a novel complex BRAF mutation identified in 4/492 Japanese papillary thyroid carcinoma(PTC) cases; findings suggest the BRAF(V600delinsYM)mutation, is a gain-of-function mutation and plays an important role in PTC development" + pmids: + - "22752848" + - text: "B-Raf(insT) and B-Raf(V600E) , but not B-Raf(wt) , provoke drastic morphological alterations in human astrocytes." + pmids: + - "21190184" + - text: "In a cohort of Indian patients with ulcerative colitis, with or without neoplasia, none showed the BRAF mutation." + pmids: + - "22398042" + - text: "The combined effects of EGFR downregulation, ligand competition, and immune effector function conspire to inhibit tumor growth in xenograft models of cetuximab-resistant BRAF and KRAS mutant cancers." + pmids: + - "22706026" + - text: BRAFV600E mutation is associated with lymph node metastasis in multiple papillary thyroid carcinoma. + pmids: + - "22681706" + - text: Demonstrate that BRAF V600E mutation-specific antibody can be used in immunohistochemical diagnosis of hairy cell leukemia. + pmids: + - "22531170" + - text: BRAF mutational status is predictive of papillary thyroid carcinoma recurrence + pmids: + - "23158172" + - text: BRAF mutation was not found to be significantly associated with lymph node metastasis in patients with papillary thyroid cancer + pmids: + - "23062653" + - text: This study reveals a novel molecular mechanism underlying the regulation of feedback loops between the MAPK and AKT pathways. + pmids: + - "22880048" + - text: High prevalence of BRAF V600E mutations is associated with Erdheim-Chester disease but not in other non-Langerhans cell histiocytoses. + pmids: + - "22879539" + - text: study found a relatively higher B-Raf serine/threonine-protein kinase (BRAF)(V600E) mutation rate in classical type papillary thyroid carcinomas than in other similar studies + pmids: + - "22767446" + - text: "As has been reported in other common types of melanoma, V600 BRAF mutation is the most common mutation of those tested in spindle cell melanoma. NRAS or KIT mutation appears to be rare, if not completely absent." + pmids: + - "22809251" + - text: "The BRAFV600E occurs exclusively in papillary thyroid carcinoma and papillary carcinoma-derived anaplastic cancer, rising as a specific diagnostic marker for this tumor when identified in cytological / histological exams" + pmids: + - "22863493" + - text: BRAF mutations play a limited role in the development of sinonasal cancer. + pmids: + - "22459936" + - text: "Out of 1041 Korean patients with papillary thyroid carcinoma, 0.4% had rare types of BRAF mutation and three new somatic mutations were identified" + pmids: + - "22471241" + - text: "DNA methylation of each marker was quantified using combined bisulfite restriction analysis (COBRA) and analyzed along with various genetic factors associated with CRC [the BRAF and KRAS mutations, MLH1 methylation and microsatellite instability" + pmids: + - "22006538" + - text: BRAF and KIT mutations have been found in Japanese melanoma patients. + pmids: + - "22534474" + - text: The presence of a BRAF c.1799T>A (p.V600E) mutation is associated with significantly poorer prognosis after colorectal cancer diagnosis among subgroups of patients. + pmids: + - "22899730" + - text: BRAF mRNA expression may help to identify PTC among thyroid nodules independently of the presence of BRAFV600E mutation. + pmids: + - "22770943" + - text: "Vemurafenib is effective for advanced melanomas expressing the BRAF V600E mutations [review]" + pmids: + - "22742884" + - text: We describe 3 patients with BRAF V600E mutation metastatic melanoma in whom treatment with vemurafenib resulted in prompt extracranial disease response but progression of metastatic disease in the brain. + pmids: + - "23036672" + - text: The tumor with T1799A BRAF mutation and tumor sizes of 2 cm or more were clinicopathologic parameters associated with lower STAT1 activity. + pmids: + - "22514085" + - text: "study shows there are clinically and biologically distinct subtypes of BRAF-mutant metastatic melanoma, defined by genotype, with distinct etiology and behavior; cumulative sun-induced damage in primary cutaneous melanoma and older age are associated with V600K BRAF mutations;it establishes prevalence of the BRAF mutation by age-decade" + pmids: + - "22535154" + - text: BRAFV600E mutation is associated with Langerhans cell histiocytosis. + pmids: + - "22859608" + - text: No BRAF V600E mutations were indentified in this study of patients with endometrial cancer. + pmids: + - "22498935" + - text: "RAF1(D486N), as well as other kinase-impaired RAF1 mutants, showed increased heterodimerization with BRAF, which was necessary and sufficient to promote increased MEK/ERK activation." + pmids: + - "22826437" + - text: BRAF regulates expression of long noncoding RNAs in melanocytes and melanoma cells + pmids: + - "22581800" + - text: "we have analyzed the prevalence of somatic mutations in the FGFR3, PIK3CA, AKT1, KRAS, HRAS, and BRAF genes in bladder cancers" + pmids: + - "22417847" + - text: The BRAF(V600E) mutation might be associated with a more aggressive phenotype and a poor prognosis in classic variant of papillary thyroid carcinomas. + pmids: + - "23163107" + - text: Report of oncogenic BRAF/KRAS mutations in sporadic glomus tumors. + pmids: + - "22317887" + - text: "KRAS, BRAF, and PIK3CA mutations in colorectal cancer have sustained prevalence rate in the Taiwanese population." + pmids: + - "22579930" + - text: These results clearly prove that the BRAFV600E mutation is not associated with the development of distant metastases or fatal outcome in papillary thyroid carcinoma + pmids: + - "22740704" + - text: "Data indicate that KRAS, BRAF, PIK3CA, and AKT1 mutations can be rapidly and accurately detected for cancer diagnosis." + pmids: + - "22938585" + - text: "Compared with BRAF-wt papillary thyroid cancer, those harboring BRAF(V600E) exhibit downregulated VEGFA, VEGFR, and PDGFRbeta expression, suggesting presence of BRAF mutation does not imply stronger response to drugs targeting VEGF and PDGFB signal pathways." + pmids: + - "21653734" + - text: the spectrum and frequency distribution of the identified KRAS and BRAF mutations in Serbian patient with colorectal cancer are in good accordance with literature data. + pmids: + - "23033302" + - text: "study examined the clinical characteristics and outcomes of patients with mutant BRAF advanced cancer; conclude that BRAF appears to be a druggable mutation that also defines subgroups of patients with phenotypic overlap, albeit with differences that correlate with histology or site of mutation" + pmids: + - "22039425" + - text: Postmenopausal hormone therapy was associated with borderline statistically significant risk reductions for BRAF-wildtype tumours among women with prolonged exposure to Postmenopausal hormone therapy. + pmids: + - "22027477" + - text: Reactivation of mitogen-activated protein kinase (MAPK) pathway by FGF receptor 3 (FGFR3)/Ras mediates resistance to vemurafenib in human B-RAF V600E mutant melanoma. + pmids: + - "22730329" + - text: "In papillary thyroid cancer, significant correlations between the methylation status of four genes (TIMP3, RASSF1A, RARbeta2 and DCC) and the V600E BRAF mutation were found." + pmids: + - "22694820" + - text: "Thus, in this meta-analysis, the BRAF mutation in PTC was significantly associated with PTC recurrence, lymph node metastasis, extrathyroidal extension, and advanced stage AJCC III/IV." + pmids: + - "22932786" + - text: Single Nucleotide Polymorphisms in BRAF gene is associated with diseases. + pmids: + - "22824468" + - text: "In signet ring cell carcinoma, BRAF V600E mutation adversely affects survival in microsatellite-stable tumors, but not in high-level microsatellite-unstable tumor" + pmids: + - "22522845" + - text: B-Raf gene mutation primarily occurs at two loci--the exon 11 glycine loop and the activation area of exon 15--in surgically resected specimens of hepatocellular carcinoma patients. + pmids: + - "22190283" + - text: "BRAF p.Val600Lys mutations were present at a relatively high frequency in the cohort of metastatic melanoma patients (27/183, 15%)" + pmids: + - "22614711" + - text: The results of this study supported an important role for BRAF duplication and MAPK pathway activation in gliomas of the optic nerve proper. + pmids: + - "22892521" + - text: BRAF mutation is associated with colorectal serrated adenocarcinoma. + pmids: + - "22287190" + - text: Data indicate that 14% with pancreatic ductal adenocarcinomas (PDACs) and 7% ampullary adenocarcinomas (A-ACs) had mutations in both KRAS and BRAF. + pmids: + - "22699145" + - text: "Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1." + pmids: + - "22773810" + - text: V600E mutation of the BRAF gene reported to be associated with poor prognosis of germ cell tumors in adults prognostic biomarkers cannot necessarily be transferred from one age group to the other. + pmids: + - "22147429" + - text: "The presence of activating GNAS mutations, in association with KRAS or BRAF mutations, is a characteristic genetic feature of colorectal villous adenoma." + pmids: + - "22374786" + - text: Data show that RNF149 (RING finger protein 149) interacts with wild-type BRAF. + pmids: + - "22628551" + - text: BRAF V600E is associated with gliomas. + pmids: + - "22492957" + - text: Highly sensitive and specific molecular assays such as MEMO sequencing are optimal for detecting the BRAF mutations in thyroid FNAC because these techniques can detect PTC that might be missed by cytology or less sensitive molecular assays. + pmids: + - "22500044" + - text: The analysis of BRAF mutations by pyrosequencing is useful to refine the risk stratification of patients with papillary thyroid carcinoma. + pmids: + - "22508706" + - text: "Patient's BRAF mutation was likely responsible for his tumor's marked response to dasatinib, suggesting that tumors bearing kinase-impaired BRAF mutations may be exquisitely sensitive to dasatinib." + pmids: + - "22649091" + - text: "In the present study, we did not find any significant correlations between KRAS, BRAF and PIK3CA mutations and the loss of PTEN expression and various clinicopathological features in Chinese patients with colorectal cancer." + pmids: + - "22586484" + - text: BRAF (V600E) is a prevalent genetic alteration in adult sporadic papillary thyroid carcinoma in Indian cohort and it may be responsible for the progression of its classic variant. + pmids: + - "22105775" + - text: "BRAF V600E mutation-positive papillary thyroid carcinomas (PTCs) displayed infiltrative growth, stromal fibrosis, psammoma bodies, plump eosinophilic tumour cells, and classic fully developed nuclear features of PTC." + pmids: + - "22335197" + - text: "The diagnostic sensitivity for thyroid cancer is significantly increased by BRAF V600E mutation analysis, indicating that the screening for BRAF mutation in FNAB samples has a relevant diagnostic potential." + pmids: + - "22535974" + - text: "The mTOR pathway could be a good target to enhance therapy effects in certain types of thyroid carcinoma, namely in those harboring the BRAF(V600E) mutation." + pmids: + - "22549934" + - text: BRAF mutation is an independent prognostic biomarker for colorectal liver metastasectomy. + pmids: + - "22331825" + - text: "Investigation the prevalence of mutations in the BRAF gene and its correlation with demographic characteristics, tumor location and stage in 100 colorectal carcinoma patients from India." + pmids: + - "22427190" + - text: BRAF/NRAS mutations were identified in 58% of primary melanomas (43% BRAF; 15% NRAS) + pmids: + - "22614978" + - text: Recurrent/persistent PTC in the central compartment typically harbors the BRAF mutation + pmids: + - "22549559" + - text: BRAF mutations are associated with hairy cell leukemia and related lymphoproliferative disorders. + pmids: + - "22133769" + - text: "analysis of a patient with pancreatic metastasis arising from a BRAF(V600E)-positive papillary thyroid cancer [case report]" + pmids: + - "22435913" + - text: BRAF V600E is common in patients with low-risk papillary thyroid carcinoma but does not predict recurrence. + pmids: + - "22515292" + - text: BRAF activating mutations are a major genetic alteration in this histologic group of pediatric low-grade brain tumors. + pmids: + - "20156809" + - text: Cardio-facio-cutaneous syndrome is caused by heterogeneous mutations in BRAF gene. + pmids: + - "22876591" + - text: Eleven patients displayed Durable Disease Control (DDC) of which 55% had BRAF-V600E mutation positive tumors and 45% did not. + pmids: + - "22382362" + - text: Report marked differences in the genetic pattern of the BRAF or NRAS mutated and wild-type melanoma subgroups. + pmids: + - "22456166" + - text: Aberrant gene methylation driven by BRAF(V600E) altered expression of the DNA methyltransferase 1 and histone methyltransferase EZH2 profoundly. + pmids: + - "22189819" + - text: These data support a model where the continuous regenerative process initiated by oncogenic B-RAF-driven alveolar disruption provides a tumor-promoting environment associated with chronic inflammation. + pmids: + - "22194995" + - text: Report upregulation of Bim and the splicing factor SRp55 in melanoma cells from patients treated with selective BRAF inhibitors. + pmids: + - "22516966" + - text: "Data indicate that 266 (76.2%) tumors harbored EGFR mutations, 16 (4.6%) HER2 mutations, 15 (4.3%) EML4-ALK fusions, 7 (2.0%) KRAS mutations, and 2 (0.6%) BRAF mutations." + pmids: + - "22317764" + - text: "Patients with microsatellite instability tumor phenotype had favorable prognosis, but in those with the V600E BRAF mutation higher recurrence rate was observed." + pmids: + - "22210186" + - text: findings show (V600E)B-RAF copy-number gain as a mechanism of acquired B-RAF inhibitor resistance in 4 out of 20 patients treated with B-RAF inhibitor + pmids: + - "22395615" + - text: abrogation of BRAFV600E-induced senescence contributes to melanomagenesis. + pmids: + - "22549727" + - text: Colon adenocarcinomas with BRAF mutations have morphologic characteristics distinct from those with KRAS mutations and BRAF-mutated proximal colonic adenocarcinomas with proficient DNA mismatch repair have an aggressive clinical course. + pmids: + - "22314188" + - text: "Overall, no difference existed in microsatellite instability or BRAF mutation frequencies between African Americans and Caucasians with colorectal neoplasms." + pmids: + - "22114137" + - text: "thieno[2,3-d]pyrimidines are B-Raf inhibitors" + pmids: + - "22137342" + - text: Mutational activation of both BRAF and PIK3CA genes does contribute to hepatocellular tumorigenesis at somatic level in Southern Italian population. + pmids: + - "22258409" + - text: "The prevalence of EGFR, KRAS, BRAF and PIK3CA somatic mutations in 861 randomly selected Chinese patients with non-small cell lung cancer" + pmids: + - "22430133" + - text: "Data indicate that TaqMan(R) Mutation Detection assay is an important technology to consider in the field of mutation detection for KRAS, BRAF and EGFR point mutation screening." + pmids: + - "22426079" + - text: No hotspot mutations in Braf were found in oral squamous cell carcinoma in a Greek population. + pmids: + - "22294102" + - text: The V600E BRAF mutation in papillary thyroid carcinomas may contribute to the initiation of the glycolytic phenotype and confers growth advantages in cancer + pmids: + - "22376167" + - text: "This is the first reported study of the relationship between CK20/CK7 immunophenotype, BRAF mutations and microsatellite status in colorectal carcinomas" + pmids: + - "22361037" + - text: evidence presented that ERK activation occurs in a K-ras or B-raf -independent manner in the majority of primary colon cancer cases; B-raf mutations are not associated with mismatch-repair deficiency through loss of hMLH1 or hMSH2 expression + pmids: + - "22376079" + - text: "review demonstrates that tumour BRAF V600E mutation, and MLH1 promoter 'C region' methylation specifically, are strong predictors of negative MMR mutation status[review]" + pmids: + - "22368298" + - text: "Article reviews the current understanding of BRAF gene, its structure, expression, and signal pathway in non-small cell lung cancer. [Review]" + pmids: + - "22429583" + - text: Patients with serrated polyposis syndrome referred to genetics clinics had a pan-colonic disease with a high polyp burden and a high rate of BRAF mutation. + pmids: + - "22510757" + - text: A distinct subset of atypical Spitz tumors is characterized by BRAF mutation and loss of BAP1 expression. + pmids: + - "22367297" + - text: Immunohistochemical detection of the mutated V600E BRAF protein in papillary thyroid carcinoma may facilitate mutational analysis in the clinical setting. + pmids: + - "22592144" + - text: the BRAF(V600E) mutation should be considered as a poor prognostic marker in papillary thyroid cancer (Meta-Analysis) + pmids: + - "21882184" + - text: In naive GISTs carrying activating mutations in KIT or PDGFRA a concomitant activating mutation was detected in KRAS (5%) or BRAF (about 2%) genes. I + pmids: + - "22282465" + - text: "In malignant FNABs in papillary thyroid carcinoma, BRAF(V600E) mutation was significantly associated with presence of extra-thyroidal extension and metastases after surgery." + pmids: + - "21948220" + - text: Our results suggest that HCLv and IGHV4-34(+) HCLs have a different pathogenesis than HCLc and that a significant minority of other HCLc are also wild-type for BRAF V600. + pmids: + - "22210875" + - text: Studies indicate that BRAF V600E mutation initiates follicular cell transformation. + pmids: + - "21900390" + - text: Results support evaluation of BRAF(V600E)-specific inhibitors for treating BRAF(V600E) malignant astrocytomas (MA) patients. + pmids: + - "22038996" + - text: Patient diagnosed with colon cancer shows poor prognosis with BRAF genetic mutation. + pmids: + - "22393095" + - text: "MSS/BRAF mutant cancers were more commonly proximal (38/54, 70.3%)." + pmids: + - "21557216" + - text: An update on malignancies displaying high frequencies of BRAF mutations and the mechanisms underlying the side effects and drug resistance phenomena associated with Raf inhibitors. + pmids: + - "22471666" + - text: "This article reviewes the spectrum of KRAS/BRAF genotype and the impact of KRAS/BRAF mutations on the clinicopathological features and prognosis of patients with colorectal cancer. [review]" + pmids: + - "22043994" + - text: "Report mutations in KRAS, EGFR, and BRAF in cholangiocarcinoma and identify therapeutic targets for tyrosine kinase inhibitors." + pmids: + - "22178589" + - text: The BRAF V600E mutation did not show association with clinical or molecular characteristics of colorectal cancer. + pmids: + - "21681432" + - text: BRAF V600E mutation has a significant correlation with papillary thyroid carcinomas. + pmids: + - "21875464" + - text: The BRAF(V600E) mutation analysis from FNA specimens for calcified thyroid nodules may be performed for a greater negative predictive value and unveil the malignancy in 25% of indeterminate or nondiagnostic cytology. + pmids: + - "22451557" + - text: BRAFmut as a useful marker in hairy cell leukemia. + pmids: + - "22331186" + - text: Pyrosequencing of BRAF V600E in routine samples of hairy cell leukaemia identifies CD5+ variant hairy cell leukaemia that lacks V600E. + pmids: + - "22145942" + - text: BRAF mutation is associated with inferior survival in stage III colon cancer. + pmids: + - "22147942" + - text: An integrated approach combining both VE1 mutant protein immunohistochemistry and genetic analysis may increase the diagnostic accuracy of BRAF mutation analysis. + pmids: + - "22012135" + - text: high prevalence of BRAF (V600E) mutation is associated with synchronous bilateral papillary thyroid carcinoma. + pmids: + - "22033631" + - text: The BRAF(V600E) mutation was associated with high-risk clinicopathologic characteristics in patients with papillary thyroid cancer (PTC). The BRAF(V600E) mutation may be a potential prognostic factor in PTC patients. + pmids: + - "22190222" + - text: evidence for heterogeneity of the BRAF(V600E) mutation within individual melanoma tumor specimens + pmids: + - "22235286" + - text: BRAF mutation is not indicative for predicting papillary thyroid cancer prognosis. + pmids: + - "21803329" + - text: papillary thyroid cancers in young patients display a low prevalence of the already identified oncogenic alterations; the increasing prevalence with age is mainly due to V600E BRAF mutation + pmids: + - "22150560" + - text: "During therapy with selective BRAF inhibitors, panniculitis with arthralgia represents a new adverse effect that can require dose reduction." + pmids: + - "22250191" + - text: Effective use of PDT in the treatment of BRAF inhibitor-associated KAs and SCCs. + pmids: + - "22431777" + - text: Ras induces DR5 expression through co-activation of ERK/RSK and JNK signaling pathways + pmids: + - "22065586" + - text: "EFVPTC 1 patient BRAFV600E mutation, NVPTC 2 patients, FVPTC 2 patients." + pmids: + - "22431868" + - text: "CXCR4 expression and BRAF mutation status could cooperatively induce and promote a more aggressive phenotype in papillary thyroid carcinoma through several pathways and specifically increase the tumors' spread outside of the thyroid gland." + pmids: + - "21909080" + - text: The findings show mutant BRAF-induced oncogenic stress manifests itself by DNA damage and growth arrest by activating the pCHK2-p53-p21 pathway.It also confers tumor-promoting phenotypes such as the up-regulation of GLUT1 and enhances glucose metabolism. + pmids: + - "22227015" + - text: Papillary thyroid cancers with no 131I uptake had a high frequency of BRAF mutations. + pmids: + - "17854396" + - text: "Sessile serrated adenomas are precursors of sporadic colorectal cancers with microsatellite instability.Identified a novel surface microstructure, the Type II open-shape pit pattern (Type II-O), which was specific to SSAs with BRAF mutation and CIMP." + pmids: + - "22233696" + - text: The antibody response against the catalytic domain of BRAF is not specific for rheumatoid arthritis. + pmids: + - "22174938" + - text: (BRAF(V600E))detected in 141/170 malignant thyroid nodules (82.9%) (140 PTCs and one follicular variant of PTC). BRAF status not associated with US features with the exception of a negative relation between BRAF(V600E) and an irregular shape (p = 0.004). + pmids: + - "22358007" + - text: No V600E mutation was identified in the BRAF gene in any sample. + pmids: + - "21455633" + - text: No BRAF mutations were found in colon adenocarcinomas from renal transplant recipients. + pmids: + - "22245873" + - text: Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome) + pmids: + - "21871821" + - text: One chronic lymphocytic leukaemia patient and one patient with B-prolymphocytic leukaemia were found to harbour the BRAF V600E mutation + pmids: + - "22230299" + - text: "In sporadic colorectal tumourspatients, the most frequently mutated gene was APC (68.9% of tumours), followed by KRAS (31.1%), TP53 (27.2%), BRAF (8.7%) and CTNNB1 (1.9%)." + pmids: + - "21901162" + - text: "BRAF mutation in papillary thyroid carcinoma is a later subclonal event, its intratumoral heterogeneity may hamper the efficacy of targeted pharmacotherapy, and its association with a more aggressive disease should be reevaluated." + pmids: + - "22170714" + - text: "Case Report: describe case of follicular thyroid carcinoma with BRAF mutation." + pmids: + - "22136270" + - text: "None of the molecular marker mutations that were analyzed in this study, including the BRAF mutation, predicted lymph node metastasis in classic papillary thyroid carcinoma." + pmids: + - "22249628" + - text: "BRAF and KRAS mutations were observed in six (46.2%) and four (30.3%) filiform serrated adenomaS, respectively." + pmids: + - "22157687" + - text: Findings suggest that the BRAF inhibitor vemurafenib in combination with standard-of-care or novel targeted therapies may lead to enhanced and sustained clinical antitumor efficacy in CRCs harboring the BRAF(V600E) mutation. + pmids: + - "22180495" + - text: A prominent epigenetic mechanism through which BRAF V600E can promote papillary thyroid cancer tumorigenesis by altering the methylation and hence the expression of numerous important genes. + pmids: + - "21937738" + - text: "BRAF(V600E) causes upregulation of TIMP-1 via NF-kappaB. TIMP-1 binds then its surface receptor CD63, leading eventually to Akt activation, which in turn confers antiapoptotic behavior and promotion of cell invasion." + pmids: + - "21903858" + - text: These results provide a functional link between oncogenic BRAF and angiogenesis. + pmids: + - "22203991" + - text: identified concurrent mutational inactivation of the PTEN and RB1 tumor suppressors as a mechanism for loss of BRAF/MEK dependence in melanomas harboring (V600E)BRAF mutations + pmids: + - "21725359" + - text: Aberrant CIMP was detected in 16% of chromosomal instable tumors and in 44% of both microsatellite instable and microsatellite and chromosomally stable carcinomas + pmids: + - "21915661" + - text: samples of metastatic colorectal cancer were tested for the presence of the seven most common mutations in the KRAS gene and the V600E mutation in the BRAF gene + pmids: + - "20645028" + - text: BRAF V600E mutation is associated with recurrent papillary thyroid cancer. + pmids: + - "21594703" + - text: The application of BRAF(V600E) mutation analysis in US-guided FNAB can improve the diagnostic accuracy of thyroid nodules. + pmids: + - "21707687" + - text: this novel B-Raf fusion protein (SND-1 was identified as the B-Raf fusion partner) presents a novel target with potential clinical implications in the treatment of patients resistant to c-Met inhibitors. + pmids: + - "21936566" + - text: "In patients with colorectal adenocarcinoma, there were significant differences between BRAF wild-type and mutant tumors in age, female sex, proximal tumor location, frequency of microsatellite instability, and survival." + pmids: + - "22228154" + - text: Findings suggest that inhibition of Raf-MEK-Erk pathway might offer a novel therapeutic strategy in neuroendocrine tumors + pmids: + - "21317202" + - text: "BAG3 protein sustains anaplastic thyroid tumor growth in vitro and in vivo. The underlying molecular mechanism appears to rely on BAG3 binding to BRAF, thus protecting it from proteasome-dependent degradation." + pmids: + - "22072743" + - text: BRAF V600E mutation is associated with hairy cell leukemia and B-cell neoplasms + pmids: + - "22028477" + - text: Braf mutation in metastatic melanoma treated with BRAF inhibitor vemurafenib. + pmids: + - "21863388" + - text: analysis of BRAF gene mutations in non-small cell lung cancer + pmids: + - "22199339" + - text: The frequency of BRAF-KIAA1549 fusion transcripts is significantly lower in adult patients with pilocytic astrocytoma. + pmids: + - "21696415" + - text: "Although it constitutes a poor prognostic factor in colorectal cancer, it is not conclusive if it interferes with a poor therapeutic effect when cetuximab is used.[review]" + pmids: + - "22214007" + - text: BRAF V600E mutation is associated with hairy cell leukemia and other mature B-cell neoplasms + pmids: + - "22072557" + - text: "RET mutations may have a role in medullary thyroid carcinoma, while BRAF, AKT1, and CTNNB1 do not; the role of HRAS, KRAS, and NRAS mutations are not determined" + pmids: + - "22199277" + - text: "BRAF mutations, but not KRAS mutations, were associated with a worse outcome in Chinese colorectal cancer patients." + pmids: + - "21553007" + - text: BRAF mutations and llelic loss of susceptibility loci are associated with familial non-medullary thyroid cancer. + pmids: + - "21826673" + - text: Murine thyroid tumors carrying the human BRAF(V600E) mutations are exquisitely dependent on the oncoprotein for viability. + pmids: + - "22105174" + - text: "Patients with mutations in BRAF or NRAS gene are frequently present with ulceration, and mutation in BRAF or NRAS gene is indicator for poor prognosis." + pmids: + - "21788131" + - text: "BRAF(V600E) mutation analysis using residual liquid-based preparation cytologic samples is, therefore, a powerful additional diagnostic tool for diagnosis of papillary thyroid carcinoma." + pmids: + - "21774961" + - text: BRAF mutation V600E significantly induces cell migration and invasion properties in vitro in colon cancer cells + pmids: + - "21943101" + - text: BRAF mutations are of pathogenetic significance in wild type gastrointestinal stromal tumors. + pmids: + - "21906875" + - text: "In the present series, no BRAF mutation was detected. The presence of KRAS mutations and loss of PTEN expression were not associated with impaired response to cetuximab-based chemoradiotherapy and 3-year disease free survival." + pmids: + - "20947270" + - text: introduction of constitutively active BRAF V600E into human cortical stem and progenitor cells initially promotes clonogenic growth in soft agar but ultimately results in dramatically reduced proliferation and arrested growth of the culture. + pmids: + - "21636552" + - text: study reports that V600E and non-V600E BRAF mutations affect different patients with non-small-cell lung cancer; V600E mutations are significantly associated with female sex and represent a negative prognostic factor + pmids: + - "21825258" + - text: "B-Raf mutations, microsatellite instability and p53 protein expression is not associated with sporadic basal cell carcinomas." + pmids: + - "21274671" + - text: "Analysis showed that blood samples with PCR evidence for CMC were heterogeneous for BRAF status under limiting-dilution conditions, suggestive of heterogeneity of CMC" + pmids: + - "21570823" + - text: B-Raf signaling has a key function in the altered expression of contractile receptors in the cerebrovasculature. + pmids: + - "21223556" + - text: BRAF mutation is associated with papillary thyroid cancer. + pmids: + - "21412762" + - text: The high expression of activated ERK is not caused by BRAF gene mutation in nasal mucosa malignant melanomas. + pmids: + - "21223812" + - text: "We describe a new mutation of BRAF, T599dup, in a case of anaplastic thyroid carcinoma with tall cell papillary thyroid carcinomas component." + pmids: + - "21716161" + - text: Importance of infiltrative growth pattern and invasiveness over presence of BRAF mutation in classic and follicular variant papillary thyroid carcinoma for development of nodal metastases. + pmids: + - "21796448" + - text: Studies indicate that Raf kinases are excellent molecular targets for anticancer therapy. + pmids: + - "21577205" + - text: "BRAF mutation of papillary thyroid carcinoma may have differential predictive values for LN metastasis, according to tumor size." + pmids: + - "21750338" + - text: "MEK1(F129L) mutation also strengthened binding to c-Raf, suggesting an underlying mechanism of higher intrinsic kinase activity" + pmids: + - "21705440" + - text: "The BRAF/MEK/ERK pathway is upregulated in progressive retinal arterial macroaneurysm patients, caused by mutation in IGFBP7." + pmids: + - "21835307" + - text: "There were no significant differences in the frequency of BRAF mutations among lesions exhibiting the hyperplastic, adenomatous, or mixed patterns." + pmids: + - "21427714" + - text: Findings suggest inhibition of autophagy in combination with ER stress-inducing agents may represent a means by which to harness autophagy for the therapeutic benefit of B-RAF wild-type melanoma. + pmids: + - "21270111" + - text: "reduced RKIP mRNA levels and the elevated levels of B-RAF in pT1, grade III tumors vs. normal tissue, corroborate that these genes are involved in the pathogenesis of urinary bladder cancer." + pmids: + - "20853079" + - text: Eight of 16 primary tumor samples and 4 of 6 metastatic samples showed BRAF V600E gene mutations and no copy number changes were associated exclusively with metastatic cancer + pmids: + - "21693616" + - text: The presence of the BRAF(V600E) mutation may play different roles between medium and giant CMNs in melanocytic tumorigenesis. + pmids: + - "21430505" + - text: Heterogeneity of KRAS and BRAF mutation status intra-tumorally in colorectal cancer was assessed. + pmids: + - "21483104" + - text: Mutated BRAF is detected in approximately 45% of papillary thyroid carcinomas (PTC). + pmids: + - "21512141" + - text: "findings support the notion that BRAF(V600E), which can be detected preoperatively in papillary thyroid carcinoma fine-needle aspiration biopsy material, has a potential to contribute to patients stratification into high- and low-risk groups." + pmids: + - "21498916" + - text: This study demonistrated that the role of RAF kinase fusions as a central oncogenic mechanism in the development of pilocytic astrocytoma. + pmids: + - "21424530" + - text: "tumor initiation by oncogenic BRAF renders thyroid cells susceptible to TGFbeta-induced epithelial-mesenchymal transition, through a MAPK-dependent process" + pmids: + - "21383698" + - text: "In papilary thyroid carcinoma, the BRAFT1799A mutation is associated with age over 60 & a tumor size of 1cm or greater, but not with other clinicopathological characteristics, tumor recurrence or persistence." + pmids: + - "21441079" + - text: Activated BRAF promotes melanoma cell growth by matrix metalloproteinase-1 + pmids: + - "21451543" + - text: Regulation of NR4A nuclear receptor expression by oncogenic BRAF in melanoma cells. + pmids: + - "21362156" + - text: Although many studies document BRAF mutation as a prognostic factor in PTC our results underline that it is too early to consider it as a routine clinical predictive factor. + pmids: + - "21049459" + - text: "Thus, MEK1(C121S) or functionally similar mutations are predicted to confer drug resistance of neoplasms to combined MEK/RAF inhibition." + pmids: + - "21383288" + - text: BRAF mutations are specific for serrated adenocarcinoma and identify a subset of serrated adenocarcinomas with gene methylation and a tendency for MSI-H + pmids: + - "21457162" + - text: BRAF T1799A mutation may be an early and essential carcinogenic event in nearly all Korean papillary thyroid carcinomas + pmids: + - "21431280" + - text: "study suggested that both KRAS and BRAF mutations are exclusive, but KRAS and PIK3CA mutations are coexistent" + pmids: + - "21424126" + - text: "Wnt5a methylation was strongly associated with tumour microsatellite instability tumours after adjustment for age, sex, and tumour location and with BRAF V600E mutation, a marker of CpG island methylator phenotype" + pmids: + - "21587258" + - text: "analysis of gallbladder carcinomas, gallbladder adenomas, and high-grade dysplastic lesions for the BRAF and the KRAS mutations" + pmids: + - "21307665" + - text: "the oncogenic effect of BRAF(V600E) is associated with the inhibition of MST1 tumor suppressor pathways, and the activity of RASSF1A-MST1-FoxO3 pathways determines the phenotypes of BRAF(V600E) tumors." + pmids: + - "21249150" + - text: "Primary esophageal melanomas of Caucasian patients harbor mutations of c-Kit, KRAS and BRAF in varied frequencies." + pmids: + - "21131919" + - text: BRAF V600E mutation is associated with lack of response in wild-type KRAS metastatic colorectal cancer treated with anti-EGFR monoclonal antibodies. + pmids: + - "20857202" + - text: BRAF V600E mutations are common in the majority of pleomorphic xanthoastrocytoma. + pmids: + - "21479234" + - text: identified BAD serine 134 to be strongly involved in survival signaling of B-RAF-V600E-containing tumor cells and found that phosphorylation of BAD at this residue is critical for efficient proliferation in these cells. + pmids: + - "21317286" + - text: Ablation of B-Raf had no significant effect on development of K-Ras oncogene-driven non-small cell lung carcinoma. + pmids: + - "21514245" + - text: "Amplification of the driving oncogene, KRAS or BRAF, underpins acquired resistance to MEK1/2 inhibitors in colorectal cancer cells." + pmids: + - "21447798" + - text: "Mutations at the position V600 of BRAF were described in approximately 8% of all solid tumors, including 50% of melanomas, 30 to 70% of papillary thyroid carcinomas and 5 to 8% of colorectal adenocarcinomas." + pmids: + - "21426297" + - text: "K-ras gene mutation is a common event in Chinese colorectal cancer (CRC) patients, but may not be a prognostic factor in CRC , while BRAF is rarely mutated in Chinese CRC patients." + pmids: + - "21390154" + - text: Ras/Raf/MAPK and RhoA/ROCKII signalling pathways are abnormally activated in eutopic endometrial stromal cells of patients with endometriosis + pmids: + - "21303778" + - text: BRAF mutations have a smaller role in the carcinogenesis of malignant melanoma in Chinese Han than in Western patients. + pmids: + - "21326296" + - text: Studies showed that siRNA knockdown of BIM significantly blunted the apoptotic response in PTEN+ melanoma cells. + pmids: + - "21317224" + - text: "Allele-specific qPCR assays for the most frequent activating mutations in EGFR, KRAS, BRAF and PIK3CA in tumor-positive fine needle cytological aspirates were compared against histological material of primary tumors." + pmids: + - "21408138" + - text: 78 colorectal tumor samples were mutant for BRAF. + pmids: + - "21305640" + - text: B-Raf associates with and stimulates NHE1 activity and that B-Raf(V600E) also increases NHE1 activity that raises intracellular pH. + pmids: + - "21345796" + - text: "These results show that melanoma cell phenotype is an important factor in MAPK pathway inhibition response, as invasive phenotype cell response is dependent on BRAF mutation status." + pmids: + - "21176117" + - text: "Data show that BRAF-mutated melanomas occur in a younger age group on skin without marked solar elastosis and less frequently affect the head and neck area, compared to melanomas without BRAF mutations." + pmids: + - "21324100" + - text: The BRAF V600E mutation was present in all patients with hairy-cell leukemia who were evaluated. + pmids: + - "21663470" + - text: "KSR interacts with a regulatory Raf molecule in cis to induce a conformational switch of MEK, facilitating MEK's phosphorylation by a separate catalytic Raf molecule in trans" + pmids: + - "21441910" + - text: We show a strong association between concordant methylation of >/= 3 of five 3p22 genes with the CpG island methylator phenotype and the BRAF V600E mutation. + pmids: + - "21102416" + - text: BRAF(V600E) mutation is associated with thyroid nodules. + pmids: + - "20945104" + - text: "The analysis of BRAF V600E mutation in 1,320 nervous system tumors reveals high mutation frequencies in pleomorphic xanthoastrocytoma, ganglioglioma and extra-cerebellar pilocytic astrocytoma." + pmids: + - "21274720" + - text: findings indicate that somatic mutations in KRAS and PIK3CA but not BRAF oncogenes are closely associated with the development of cholangiocarcinoma in Chinese population + pmids: + - "21051183" + - text: BRAF mutations were rare in colorectal laterally-spreading tumors. + pmids: + - "21332555" + - text: 803 metastatic colorectal cancer samples studied for KRAS exon 2 and BRAF exon 15 mutations; BRAF mutated samples were characterized for mismatch repair function; 344 tumours were mutated -34 involving BRAF mutations (8 of microsatellite instability type) + pmids: + - "21289333" + - text: identifying downstream events from the BRAFV600E/ERK1/2 pathway will eventually identify novel biomarkers that can be used to correlate with disease outcome and overall survival. + pmids: + - "21321384" + - text: The BRAF mutation was frequently detected in patients with superficial spreading melanoma (OR=2.021; P<0.001) and in melanomas arising in nonchronic sun-damaged skin (OR=2.043; P=0.001). + pmids: + - "21166657" + - text: PIK3CA mutations may have a role in KRAS and BRAF wild type colorectal cancer + pmids: + - "20571907" + - text: "The presence of mutant BRAF had no impact on the disease-free interval from diagnosis of first-ever melanoma to first distant metastasis; however, it may have impacted survival thereafter." + pmids: + - "21343559" + - text: BRAF mutational status yielded no useful prognostic information in predicting recurrence and benefits from adjuvant chemotherapy in colorectal cancer. + pmids: + - "21383284" + - text: IDH1 mutation works with other oncogenic mutations and could contribute to the metastasis in melanoma. + pmids: + - "21356389" + - text: We found that performing BRAF(V600E) mutation analysis on the fine-needle aspiration biopsy specimens was of great help to make a therapeutic decision for thyroid nodules when the fine-needle aspiration biopsy results were equivocal + pmids: + - "21239517" + - text: "HER2, but not EGFR gene amplification, is frequently observed in KRAS and BRAF wild type colorectal cancer patients" + pmids: + - "20563851" + - text: concluded that follicular variant of papillary thyroid carcinoma differs from conventional papillary thyroid carcinoma in the rate of BRAF mutation + pmids: + - "21167555" + - text: BRAF mutation is associated with selective inhibition of thyroid cancer cells by the novel MEK inhibitor RDEA119 and genetic-potentiated synergism with the mTOR inhibitor temsirolimus + pmids: + - "21351275" + - text: "Data show that among 181 CRC patients, stratified by microsatellite instability status, DNA sequence changes were identified in KRAS (32%), BRAF (16%), PIK3CA (4%), PTEN (14%) and TP53 (51%)." + pmids: + - "21103049" + - text: Presence of mutated BRAF is one of the most powerful prognostic factors for advanced and recurrent CRC + pmids: + - "21285991" + - text: KRAS mutations arise more frequently than BRAF mutations in Moroccan patients with colorectal carcinomas. + pmids: + - "21161938" + - text: BRAF mutation is associated with papillary thyroid microcarcinoma. + pmids: + - "20953721" + - text: "Anti-BRAF autoantibodies from RA patients preferentially recognize one BRAF peptide: P2" + pmids: + - "20955560" + - text: "Acquisition of a BRAF mutation is not a founder event, but may be one of the multiple clonal events in melanoma development, which is selected for during the progression." + pmids: + - "21224857" + - text: "Mutations of EGFR, BRAF, and KRAS in adenocarcinoma were mutually exclusive and inversely correlated with RASSF1A methylation" + pmids: + - "21102258" + - text: first report implicating BRAF mutation in OSCC. study supports that mutations in the BRAF gene makes at least a minor contribution to OSCC tumorigenesis. + pmids: + - "20813562" + - text: The V600E BRAF mutation confers a worse prognosis to stage II and stage III colon cancer patients independently of disease stage and therapy. + pmids: + - "20501503" + - text: "In melanoma cells, oncogenic (V600E) BRAF signaling downregulates PDE5A through the transcription factor BRN2, leading to increased cGMP and Ca2+ and the induction of invasion through increased cell contractility." + pmids: + - "21215707" + - text: "Data show that BRAF knockdown led to suppression of the expression of the GABPbeta, which involved in regulating HPR1 promoter activity." + pmids: + - "21076620" + - text: BRAF mutation is rare in advanced-stage low-grade ovarian serous carcinomas. + pmids: + - "20802181" + - text: The dermoscopical and histopathological patterns of nevi correlate with the frequency of BRAF mutations. + pmids: + - "21068756" + - text: this study has confirmed that the BRAF(T1799A) mutation confers cancer cells sensitivity to PLX4032 and demonstrated its specific potential as an effective and BRAF(T1799A) mutation-selective therapeutic agent for thyroid cancer. + pmids: + - "21185263" + - text: "BRAF is mutated in a low percentage of follicular variant of papillary thyroid carcinoma, and most of these mutated cases are suspicious or positive on fine-needle aspiration." + pmids: + - "20950194" + - text: These findings suggest that BRAF mutations may be associated with the pathogenesis of sessile serrated colorectal adenomas. + pmids: + - "21263251" + - text: BRAF gene amplification can promote acquired resistance to MEK inhibitors in cancer cells harboring the BRAF V600E mutation. + pmids: + - "21098728" + - text: melanomas escape B-RAF(V600E) targeting not through secondary B-RAF(V600E) mutations but via receptor tyrosine kinase (RTK)-mediated activation of alternative survival pathway(s) or activated RAS-mediated reactivation of the MAPK pathway + pmids: + - "21107323" + - text: identification of MAP3K8 (the gene encoding COT/Tpl2) as a MAPK pathway agonist that drives resistance to RAF inhibition in B-RAF(V600E) cell lines + pmids: + - "21107320" + - text: Mutant Braf can be detected in RNA from mixed populations with as few as 0.1% Braf(V600E) mutant cells. + pmids: + - "20679909" + - text: BRAF mutation detection in fine needle biopsy may be an adjunct tool for preoperative didagnosis of papillary thyroid carcinoma. + pmids: + - "20837233" + - text: BRAF alternative splicing is differentially regulated in human and mouse. BRAF exon 9b is required for learning and memory associated with the hippocampus. + pmids: + - "21203559" + - text: RET rearrangements and BRAF mutation in undifferentiated thyroid carcinomas having papillary carcinoma components + pmids: + - "20840674" + - text: "Using traditional PCR and direct sequencing, we found KRAS mutations in 47 (40%) patients and BRAF(V600E) in 10 (8.5%)" + pmids: + - "20616366" + - text: BRAF mutations activate the mitogen-activated protein kinase pathway and confer an aggressive thyroid cancer phenotype. + pmids: + - "21134562" + - text: BRAF mutation in papillary thyroid carcinoma is associated with an increased risk of palpable nodal recurrence and the need for reoperative surgery. + pmids: + - "21134544" + - text: It therefore appears that BRAF mutations may play a strong negative prognostic role and only a slight role in resistance to anti-EGFR Abs. + pmids: + - "21129611" + - text: The BRAF 1799T>A mutation was found in 5 of 19 (26%) of infiltrative follicular variant of papillary thyroid carcinomas and in none of the encapsulated carcinomas + pmids: + - "20526288" + - text: Braf mutation is associated with basal and treatment-induced regulation of the PI3K-AKT pathway as a critical regulator of AZD6244 sensitivity in cutaneous melanoma. + pmids: + - "20959481" + - text: association between MC1 receptor germline variation and BRAF/NRAS mutations in melanoma + pmids: + - "20720566" + - text: V600E BRAF mutation is not associated with seminoma. + pmids: + - "20607849" + - text: PLX4032 has robust activity in BRAF mutated melanoma. + pmids: + - "20689758" + - text: "A BRAF aberrant splice variant with an intact kinase domain and partial loss of the N-terminal autoinhibitory domain was identified in fibroblasts from an additional patient, and fibroblast proliferation was inhibited by BRAF-specific siRNA." + pmids: + - "20843808" + - text: Describe benign serrated colorectal fibroblastic polyps/intramucosal perineuriomas are true mixed epithelial-stromal polyps (hybrid hyperplastic polyp/mucosal perineurioma) with frequent BRAF mutations. + pmids: + - "20962618" + - text: in melanomas activation of the MAPK pathway can occur through signaling pathways operating independently of BRAF T1799A + pmids: + - "20605766" + - text: Findings delineate how mutant B-RAF protects melanoma cells from apoptosis and provide insight into possible resistance mechanisms to B-RAF inhibitors. + pmids: + - "20647317" + - text: Hypoxia-inducible factor-1alpha is expressed in papillary thyroid carcinomas and is regulated not only by hypoxia but also by BRAF(V600E)-mediated signaling pathway. + pmids: + - "20473281" + - text: Determination of the BRAF mutation and the growth fraction of melanomas may add a prognostic value. + pmids: + - "20944096" + - text: Activated Raf-1 induces focal adhesion kinase expression and regulates neuroendocrine and metastatic phenotypes in gastrointestinal carcinoid cell line BON. + pmids: + - "20407018" + - text: "With MSI, specific KRAS and BRAF mutations, 3 distinct prognostic subgroups were observed: patients with (i) KRAS mutation G12D, G12V or BRAFmutation, (ii) KRAS/BRAFwild-type or KRAS G13D mutations in MSS/MSI-L and (iii) MSI-H and KRAS G13D mutations." + pmids: + - "20162668" + - text: Incidence of cancer in FDRs of index CRC patients with the p.V600E BRAF mutation may be explained by a genetic predisposition to develop cancer through the serrated pathway of colorectal carcinogenesis. + pmids: + - "20570909" + - text: Studies identified the oncogenic BRAF V600E mutation in 35 of 61 archived specimens (57%). + pmids: + - "20519626" + - text: "allele specific Taqman-based real-time PCR assay allows the sensitive, accurate and reliable measurement of BRAF(V600E) mutated DNA in plasma" + pmids: + - "20576522" + - text: No significant difference in BRAF alterations was found between pT1 tumors and thyroid capsule invasion and pT3 tumors. + pmids: + - "20631031" + - text: BRAF mutational status of metastases is not required when the primary tumour is BRAF wild type. + pmids: + - "20573852" + - text: "reports the low frequency of PIK3CA and B-RAF mutations in astrocytomas, despite the presence of activated ERK and AKT proteins" + pmids: + - "20569675" + - text: This study identified an exceptionally high frequency of KIAA1549-BRAF fusions in pilocytic astrocytoma. + pmids: + - "20454969" + - text: The BRAF V600E mutational status appears to be of limited diagnostic utility in distinguishing genital naevi that exhibit atypia from those that do not. + pmids: + - "19919630" + - text: The knowledge of BRAF mutation status can facilitate more accurate risk stratification and better decision making at various steps in the management of papillary thyroid cancer. + pmids: + - "19883729" + - text: BRAFV600E mutation is associated with high-risk clinicopathological characteristics of papillary thyroid carcinoma and worse prognosis of patients + pmids: + - "20009493" + - text: "if KRAS is not mutated, assessing BRAF, NRAS, and PIK3CA exon 20 mutations (in that order) gives additional information about the efficacy of cetuximab plus chemotherapy in metastatic colorectal cancer." + pmids: + - "20619739" + - text: Traditional DNA sequencing and the somewhat more-sensitive pyrosequencing method can detect multiple alternative BRAF mutations. + pmids: + - "20670148" + - text: "Screening for BRAF, RET, KRAS, NRAS, and HRAS mutations, as well as RET-PTC1 and RET-PTC3 rearrangements, was performed on cases of Hashimoto thyroiditis with a dominant nodule" + pmids: + - "20012784" + - text: PCR is practically applicable to KRAS/BRAF genotyping using small amounts of biopsied colorectal tumor cells. + pmids: + - "20627194" + - text: The miR-146b expression levels in papillary thyroid carcinoma with BRAF mutation were significantly higher than those without this mutation + pmids: + - "20406109" + - text: B-RAF(V600E) can protect melanocytes from anoikis independently of cell cycle inhibition + pmids: + - "20445557" + - text: "pathogenesis of papillary thyroid cancer , and the clinical implications of BRAF(V600E) mutation in the diagnosis, prognosis and potential targeted therapeutic strategies for thyroid cancer [review]" + pmids: + - "20230995" + - text: BRAF mutations only in metastases is not associated with resistance to anti-EGFR treatment in primary colorectal tumors. + pmids: + - "20049644" + - text: BRAF gene rearrangements were more common in cerebellar pilocytic astrocytoma than non-cerebellar tumors; clinical outcome was independent of BRAF status + pmids: + - "20044755" + - text: "BRAF mutation is not associated with interval cancers but is a marker of poor prognosis, particularly in microsatellite stable cancers." + pmids: + - "20300843" + - text: Knockdown of B-Raf(V600E) resulted in thrombospondin-1 down-regulation and a reduction of adhesion and migration/invasion of human thyroid cancer cells. + pmids: + - "20498063" + - text: "Data demonstrate a signaling loop between B-Raf activation and p73 function, and suggest that low expression of TAp73 in colorectal cancer cell lines with mutated B-Raf may lead to lack of response to oxaliplatin/cetuximab." + pmids: + - "20146801" + - text: BRAF mutation may be used a biomarker for the selection of patients with colorectal cancer patients who might benefit from anti-egf receptor monoclonal antibodies. + pmids: + - "20514492" + - text: BRAF V600E mutations are associated with MSI-H status and cyclin D1 overexpression and characterize a subgroup of patients with poor prognosis. + pmids: + - "20485284" + - text: "Meta-analysis of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "20514492" + - text: Clinical trial of gene-disease association and gene-environment interaction. (HuGE Navigator) + pmids: + - "20379614" + - text: Formalin-fixed primary melanomas from relapsed and nonrelapsed patients were sequenced for common BRAF and NRAS mutations. BRAF/NRAS mutations were detected in 77% of relapsers and 58% of nonrelapsers and did not predict ulceration or mitotic rate. + pmids: + - "20140953" + - text: we measured the prevalence and epidemiologic correlates of the BRAF V600E somatic mutation in cases collected as a part of a population-based case-control study of colorectal cancer in northern Israel. + pmids: + - "20200438" + - text: BRAF gene mutation is associated with colorectal cancer. + pmids: + - "19908233" + - text: "High oncogenic BRAF levels trigger autophagy, which may have a role in melanoma tumor progression." + pmids: + - "20182446" + - text: BRAF mutations are not relevant for rectal carcinogenesis + pmids: + - "19913317" + - text: Study concludes that the secreted protein IGFBP7 is dispensable for B-RAF(V600E)-induced senescence in human melanocytes. + pmids: + - "20478260" + - text: thyroid carcinoma with the BRAF(V600E) mutation tends to be taller than wide and is not associated with the presence of calcifications on ultrasound. + pmids: + - "20410389" + - text: no support for MC1R variants with BRAF mutation for melanoma risk + pmids: + - "20043015" + - text: "data support the model of BRAF and K-ras mutations arising in distinct colorectal cancer subsets associated with different clinicopathological and dietary factors, acting as mutually exclusive mechanisms of activation of the same signalling pathway" + pmids: + - "20233436" + - text: "Studies show FOXD3 is suppressed by B-RAF, uncover a novel role and mechanism for FOXD3 as a negative cell cycle regulator, and have implications for the repression of melanocytic lineage cells." + pmids: + - "20332228" + - text: "Whenever necessary BRAF testing may be performed on the residual samples of thyroid nodules, without interfering with routine cytology." + pmids: + - "19693938" + - text: "Our study suggests that mutations of KRAS, not BRAF, may play a role in the pathogenesis of prostate carcinoma in Chinese patients." + pmids: + - "20303012" + - text: "In this study, 28 matched tumor and serum samples obtained from patients with both benign and malignant thyroid disorders were analyzed for BRAF mutation." + pmids: + - "19626635" + - text: BRAF T1796A mutation was identified in 27% of papillary thyroid cancer samples and its identification may be used to determine this risk factor of the development of papillary thyroid cancer. + pmids: + - "19960590" + - text: data argues against obligatory downregulation in IGFBP7 expression in BRAF mutated melanoma cells + pmids: + - "19829302" + - text: CpG island methylator phenotype (CIMP)-specific inactivation of BRAF(V600E)-induced senescence and apoptosis pathways by IGFBP7 DNA hypermethylation might create a favorable context for the acquisition of BRAF(V600E) in CIMP+ colorectal cancer. + pmids: + - "20027224" + - text: "BRAF(V600E) mutation seems to define a subset of malignant astrocytomas in children, in which there is frequent concomitant homozygous deletion of CDKN2A (five of seven cases)." + pmids: + - "20068183" + - text: v-Raf murine sarcoma viral oncogene mutations are common in ovarian serous bordeline tumors. + pmids: + - "19955937" + - text: BRAF V600E mutations were seen in 83% of proximal and 74% of distal hyperplastic colonic polyps + pmids: + - "19855373" + - text: 2-fold increased risk of BRAF V600E colonic tumor mutation was observed in current and former cigarette smokers homozygous for the OGG1 polymorphism + pmids: + - "19959686" + - text: Study identified the previously reported pathogenic mutation of NTRK3 in a KRAS/BRAF wild-type tumor and 2 somatic mutations in the Src family of kinases (YES1 and LYN) that would be expected to cause structural changes. + pmids: + - "19893451" + - text: analysis of the effect on the Ras/Raf signaling pathway of post-translational modifications of neurofibromin + pmids: + - "19718661" + - text: analysis of coexisting NRAS and BRAF mutations in primary familial melanomas with specific CDKN2A germline alterations + pmids: + - "19759551" + - text: This study provides a basis for understanding the molecular processes that are regulated by (V600E)BRAF/MEK signalling in melanoma cells. + pmids: + - "19682280" + - text: EPAC-mediated cellular effects require activation of the B-Raf/ERK and mTOR signaling cascades + pmids: + - "19725049" + - text: "Hyperactivation of BRAF-MEK signaling activates MAP2 expression in melanoma cells by two independent mechanisms, promoter demethylation or down-regulation of neuronal transcription repressor HES1." + pmids: + - "19880519" + - text: We observed no association between germline MC1R status and somatic BRAF mutations in melanomas + pmids: + - "19571821" + - text: BRAFV600E mutation is associated with papillary thyroid carcinoma. + pmids: + - "19644722" + - text: "Results show that activating BRAF somatic mutations may be occasionally found in advanced adrenocortical carcinomas, while CTNNB1 activating mutations are early and common events in adrenal tumorigenesis." + pmids: + - "19498322" + - text: Suppression of BRAF gene expression inhibited cell proliferation in cells with BRAF(V600E) mutation. + pmids: + - "19878585" + - text: "Investigated the prevalence of PTPN11, HRAS, KRAS, NRAS, BRAF, MEK1, and MEK2 mutations in a relatively large cohort of primary embryonal Rhabdomyosarcoma (RMS) tumors. No mutation was observed in BRAF and MEK genes." + pmids: + - "19681119" + - text: "Studies indicate that in pilocytic astrocytomas, the BRAF fusion gene has been identified as a specific and frequent event leading to potentially targetable mitogen-activated protein kinase pathway activation." + pmids: + - "19667985" + - text: BRAF V600E detection in the tumor does not induce a higher expression of the B-raf protein or the preferential activation of the p42/44 mitogen-activated protein kinase (MAPK) signaling pathway compared with GISTs without the BRAF mutation. + pmids: + - "20023270" + - text: "Studies indicate that drugs are effective in targeting essential molecular pathways of BRAF, PTEN, Akt and mammalian target of rapamycin." + pmids: + - "19679016" + - text: "Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "19956635" + - text: The BRAF(V600E) mutation can be used as a potential prognostic factor in PTMC patients in a BRAF(V600E)-prevalent area. + pmids: + - "19710001" + - text: BRAF and KRAS oncogenes have different transforming capability in colon cancer + pmids: + - "19881948" + - text: BRAF(T1799A) can be detected in the blood of papillary thyroid carcinoma patients with residual or metastatic disease and may provide diagnostic information + pmids: + - "19850689" + - text: "clinical, cytologic, and pathologic parameters of 106 consecutive surgically treated patients with BRAF-positive PTC were compared with a concurrent cohort of 100 patients with BRAF-negative PTC (papillary thyroid carcinoma)" + pmids: + - "19958951" + - text: study of KRAS/BRAF mutation status in a large and well-documented cohort of primary and metastatic renal cell carcinoma + pmids: + - "19282104" + - text: "BRAF status, EGFR amplification, and cytoplasmic expression of PTEN were associated with outcome measures in KRAS wild-type patients treated with a cetuximab-based regimen." + pmids: + - "19884556" + - text: KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan. + pmids: + - "19884549" + - text: These data demonstrate the feasibility of BRAF mutation detection in cfDNA of patients with advanced melanoma. Future studies should aim to incorporate BRAF mutation testing in cfDNA to further validate this biomarker for patient selection. + pmids: + - "19861964" + - text: Insights into the molecular function of the inactivating mutations of B-Raf involving the DFG motif. + pmids: + - "19735675" + - text: BRAF V600E may have a role in development of papillary thyroid carcinoma + pmids: + - "19534623" + - text: CTNNB1 and BRAF mutations may have roles in the cribriform-morular variant of papillary thyroid carcinoma + pmids: + - "19534622" + - text: Mutated BRAF is a target in metastatic melanomas + pmids: + - "19624312" + - text: Beta-catenin nuclear labeling is a common feature of sessile serrated adenomas and correlates with early neoplastic progression after BRAF activation. + pmids: + - "19745699" + - text: "As predicted from the genomic organization at this locus, 22 of 36 patients with sporadic pilocytic astrocytomas and B-Raf gene rearrangement also exhibit corresponding homeodomain interacting protein kinase-2 (HIPK2) gene amplification." + pmids: + - "19794125" + - text: Characterization of candidate gene copy number alterations in the 11q13 region along with BRAF and NRAS mutations in human melanoma. + pmids: + - "19633643" + - text: BRAFV600E oncogene induces transforming growth factor beta secretion leading to sodium iodide symporter repression and increased malignancy in thyroid cancer. + pmids: + - "19861538" + - text: "The result showed that the mutation rate of PIK3CA in nasopharyngeal carcinomas (n = 73) was 9.6%, whereas both BRAF (n = 65) and RAS (n = 45) were wild type in every specimen with adequate DNA for analysis." + pmids: + - "19012001" + - text: DGKeta acts as a novel critical regulatory component of the Ras/B-Raf/C-Raf/MEK/ERK signaling cascade via a previously unidentified mechanism. + pmids: + - "19710016" + - text: This article focuses on reviewing the impact of the BRAFV600E mutation in the tumorigenesis of Papillary thyroid carcinoma + pmids: + - "19724843" + - text: "a dual mechanism that affects the Sprouty2/B-Raf interaction: Sprouty phosphorylation and B-Raf conformation" + pmids: + - "19690147" + - text: Papillary carcinomas of the thyroid with papillary growth and areas of follicular growth have a high frequency of BRAF mutations. + pmids: + - "19738460" + - text: "oncogenic properties of KRAS and BRAF but not NRAS, HRAS, and PIK3CA contribute to the tumorigenesis of periampullary and ampullary tumors" + pmids: + - "19440799" + - text: Novel BRAF mutation in a patient with LEOPARD syndrome and normal intelligence is reported. + pmids: + - "19416762" + - text: The polyclonality of BRAF mutations in acquired melanocytic nevi suggests that mutation of BRAF may not be an initial event in melanocyte transformation. + pmids: + - "19752400" + - text: Mutations in BRAF protein is associated with Colorectal Carcinoma. + pmids: + - "19679059" + - text: simultaneous depletion of both MITF and BRAF(V600E) significantly inhibited melanoma growth even for the melanoma cell lines resistant to MITF depletion + pmids: + - "19659611" + - text: BRAF mutations represent an alternative molecular pathway in the early tumorigenesis of a subset of KIT/PDGFRA wild-type GISTs and are per se not associated with a high risk of malignancy. + pmids: + - "19561230" + - text: Reverse transcription polymerase chain reaction-based sequencing revealed a fusion product between KIAA1549 and BRAF in pediatric low-grade astrocytomas + pmids: + - "19016743" + - text: "Results suggest that the mutations of EGFR, KRAS, BRAF between primary tumors and corresponding lymph node metastases should be considered whenever mutations are used for the selection of patients for EGFR-directed tyrosine kinase inhibitor therapy." + pmids: + - "19584155" + - text: data confirm that KRAS and BRAF mutations do occur in the same cell and that BRAF V600E mutation is associated with CIMP+ status. + pmids: + - "19474002" + - text: BRAF V600E mutation analysis can significantly improve FNAB diagnostic accuracy. + pmids: + - "19574281" + - text: Sorafenib inhibits NSCLC cell growth by targeting B-RAF in cells with wild-type KRAS and C-RAF in those with mutant KRAS. + pmids: + - "19638574" + - text: strong inter-relation between DR4 AND DR5 overexpression and presence of oncogenic KRAS/ BRAF mutations in colon cancer. + pmids: + - "19637313" + - text: Observational study of gene-disease association and DATA ERROR. (HuGE Navigator) + pmids: + - "19669908" + - text: "Expression levels of fibronectin, vimentin and CITED1 were positively correlated with those of BRAFV600E, suggesting pathophysiological links between activated BRAF and overexpression of these genes." + pmids: + - "19194051" + - text: study concludes that a BRAF mutation is a negative prognostic marker in patients with metastatic colorectal cancer + pmids: + - "19571295" + - text: Assessing KRAS and BRAF mutations might help optimising the selection of the candidate metastatic colorectal cancer patients to receive anti-EGFR moAbs. + pmids: + - "19603018" + - text: "BRAF(V600E)'alone' does not represent a marker for poor outcome" + pmids: + - "18070147" + - text: "Mutations in BRAF were found 10% patients in the low-grade carcinoma group, however, they were not found in the high-grade carcinoma group. KRAS and BRAF mutations were mutually exclusive, and both mutations were observed in 40%." + pmids: + - "19430562" + - text: "MLH1-hypermethylated tumors harbor fewer APC and KRAS mutations and more BRAF mutations, suggesting that they develop distinctly from an MGMT methylator pathway." + pmids: + - "19164452" + - text: BRAF V600E mutation is not the target gene for abnormal DNA mismatch repair in patients with sporadic endometrial cancer. + pmids: + - "19424571" + - text: Pilocytic astrocytomas had BRAF fusions in 70% of cases but not IDH1 or IDH2 mutations. Diffuse astrocytomas had IDH1 mutations in 76% of cases but not IDH2 mutations or BRAF fusions. Analysis of BRAF and IDH1 separates pilocytic from diffuse astrocytoma. + pmids: + - "19543740" + - text: BRAF mutations may not play an important role in the oncogenesis or therapy of prostate adenocarcinoma + pmids: + - "18987552" + - text: "The RAS/RAF/MEK/ERK signaling pathway has emerged as a major player in the induction and maintenance of melanoma, particularly the protein kinase BRAF, mutated in approximately 44% of melanoma cases. Review." + pmids: + - "19464601" + - text: BRAF (P=0.01) mutations predicted reduced progress free survival in response to cetuximab salvage therapy in patients with metastatic colorectal cancer . + pmids: + - "19603024" + - text: "Investigated BRAF mutations in 30 bladder tumors. Detected two tumor specimens bearing two different mutations, both of which were found in exon 15. One sample showed the T1799A (V600E) and the other the G1798T (V600L) mutation." + pmids: + - "19404918" + - text: There is a higher frequency of the BRAF(V600E) mutation in papillary thyroid carcinomas than in normal thyroid tissue. + pmids: + - "18710471" + - text: BRAF V600E mutation was significantly found in papillary thyroid carcinoma. + pmids: + - "19370505" + - text: mismatch repair deficiency is not a crucial event for BRAF mutation in melanocytic tumors + pmids: + - "19461239" + - text: "B-RAF mutation was found to be significantly higher in papillary carcinomas when compared to follicular variant of papillary thyroid carcinomas (55.6% vs 14.3%, P = 0.05)." + pmids: + - "19393416" + - text: "BRAF(V600E) is associated some of the aggressive clinicopathological features of papillary thyroid carcinoma including younger age at diagnosis, larger tumor size, and classic histological type, as well as also extrathyroidal invasion." + pmids: + - "19355825" + - text: BRAF and RET/PTC dual mutations are associated with recurrent papillary thyroid carcinoma + pmids: + - "19147753" + - text: Targeting NRAS alone or both BRAF and CRAF in combination or both BRAF and PIK3CA together showed delay in tumor growth. + pmids: + - "19492075" + - text: BRAF mutated tumors occurred with a much greater frequency in proximal colon tumors than in either distal colon or rectal tumors + pmids: + - "19571709" + - text: "Findings provide evidence for a wide phenotypic diversity associated with mutations affecting BRAF, and occurrence of a clinical continuum associated with these molecular lesions." + pmids: + - "19206169" + - text: The murine model of mutant BRAF-induced melanoma formation provides an important tool for identifying further genetic alterations that cooperates with BRAF and that may be useful in enhancing susceptibility to BRAF-targeted therapeutics in melanoma. + pmids: + - "19398955" + - text: "In BRAF mutated colorectal carcinoma cells quercetin, luteolin and ursolic acid decreased Akt phosphorylation" + pmids: + - "19344998" + - text: "BRAFT1799A mutation or RET/PTC rearrangement, mainly corresponding to follicular variants, maintain a thyroid differentiation expression level close to that of normal tissue." + pmids: + - "19208736" + - text: Mutation in BRAF is associated with adrenocortical carcinomas. + pmids: + - "19190079" + - text: "If BRAF is mutated in the primary thyroid neoplasm, it is likely that the metastases will harbor the defect." + pmids: + - "19487299" + - text: "Report efficient molecular screening of Lynch syndrome by specific 3' promoter methylation of the MLH1 or BRAF mutation in colorectal cancer with high-frequency microsatellite instability." + pmids: + - "19424639" + - text: Sessile serrated adenomas are encountered commonly in routine endoscopy practice and the histological diagnosis correlates strongly with the presence of BRAF mutation. + pmids: + - "19126563" + - text: a subpopulation of melanocytes possesses the ability to survive BRAF(V600E)-induced senescence + pmids: + - "19389934" + - text: NRAS and BRAF mutations increase from the radial to the vertical growth phase in cutaneous melanoma + pmids: + - "19037234" + - text: Targets of phosphorylation by B-Raf signaling are investigated in melanoma. + pmids: + - "19362540" + - text: oncogenic BRAF(V600E) induces the uncoupling of LKB1-AMPKalpha complexes providing at the same time a possible mechanism in cell proliferation that engages cell growth and cell division in response to mitogenic stimuli + pmids: + - "19274086" + - text: "(novel) mutation in the activation kinase domain of the BRAF (A598V), this mutation led to the up-regulation of the BRAF kinase activity and its downstream signaling factors." + pmids: + - "19200582" + - text: Mutation in BRAF is associated with ERK1/2 activation and MEK1/2 inhibitor therapy in colorectal cancer. + pmids: + - "19372556" + - text: "Both BRAF and RKIP expression levels exhibit a decrease from normal skin tissue and actinic keratosis, going to squamous cell carcinoma." + pmids: + - "19342899" + - text: Mutations are absent or rare in the kinase domain of B-RAF in Japanese head and neck squamous cell carcinoma. + pmids: + - "19178815" + - text: "GDC-0879-mediated efficacy was associated strictly with BRAF(V600E) status, MEK inhibition also attenuated proliferation and tumor growth of cell lines expressing wild-type BRAF." + pmids: + - "19276360" + - text: REVIEW summarizes the literature on NRAS and BRAF activating mutations in melanoma tumors with respect to available data on histogenetic classification as well as body site and presumed UV-exposure. + pmids: + - "19383313" + - text: "The genes whose expression is associated with BRAF mutations are not simply restricted to the MAPK/ERK signaling but also converge to enhanced immune responsiveness, cell motility and melanosomes processing involved in the adaptative UV response" + pmids: + - "19383316" + - text: The T1799A BRAF mutation does not appear to play a role in the tumorigenesis of the cribriform-morular variant of papillary carcinoma. + pmids: + - "19415957" + - text: Observational study of gene-disease association and genetic testing. (HuGE Navigator) + pmids: + - "20501689" + - "19414674" + - text: a correlation between a gene mutation--BRAF V600E--and cisplatin resistance in nonseminomatous germ cell tumors. + pmids: + - "19289622" + - text: "Our data provide evidence that PIK3CA and BRAF contribute to the tumorigenesis of IPMN/IPMC, but at a lower frequency than KRAS." + pmids: + - "18343945" + - text: "ERK activation was induced by PKD2 overexpression via B-Raf signaling, providing a possible molecular mechanism of cystogenesis" + pmids: + - "19098310" + - text: the presence of the braf protein mutation increases prohibitin promoter activity and therefore potentially mediates effects of this mutation on the behavior of BRAF protein + pmids: + - "19207009" + - text: BRAF(V600E) mutation is assocciated with aggressive papillary thyroid microcarcinoma. + pmids: + - "19034577" + - text: "K-ras, EGFR, and BRAF mutations are disproportionately seen in adenocarcinomas of lung with a dominant micropapillary growth pattern compared with conventional adenocarcinoma in our institutional experience." + pmids: + - "19369630" + - text: BRAF* melanomas appear to be associated with a specific profile of DNA copy number aberrations that is distinct from those found in NRAS* and BRAF/NRAS(wt/wt) tumors. + pmids: + - "19226609" + - text: "BRAF(V600E) mutation may play some roles in local carcinoma development, there is no evidence that BRAF(V600E) mutation significantly reflects the aggressive characteristics and poor prognosis of patients with papillary carcinoma in Japan." + pmids: + - "18840924" + - text: "BRAF V600E appeared to be the most commonly mutated gene in both the melanocytic aggregate (seven of 18, 39%) and the melanoma (four of 18, 22%)" + pmids: + - "18945298" + - text: G12D mutation may be more likely selected in a BRAF mutated context + pmids: + - "19087308" + - text: Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. + pmids: + - "19190129" + - text: "In Korean patients with papillary thyroid carcinoma, the BRAFV600E mutation is associated with a lower frequency of background Hashimoto thyroiditis and a high frequency of lymph node metastasis." + pmids: + - "19014278" + - text: "Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "19884549" + - "19255327" + - text: influence of B-RAF-specific RNA interference on the proliferation and apoptosis of gastric cancer BGC823 cell line + pmids: + - "17548320" + - text: study identified a group of melanomas with low-activity BRAF mutations (G469E- and D594G) that are reliant upon CRAF-mediated survival activity + pmids: + - "18794803" + - text: study concludes a single endogenous BRAF(V600E) allele is sufficient to repress BIM & prevent death from growth factor withdrawal; colorectal cancer cells with V600E mutations are addicted to the ERK1/2 pathway for repression of BIM + pmids: + - "18806830" + - text: "Genetic extinction of BRAF(V600E) in established prostate tumors did not lead to tumor regression, indicating that while sufficient to initiate development of invasive prostate adenocarcinoma, BRAF(V600E) is not required for its maintenance." + pmids: + - "19079609" + - text: "N-RAS(Q61K) and B-RAF(V600E) contribute to melanoma's resistance to apoptosis in part by downregulating Bim expression" + pmids: + - "18668139" + - text: BRAF pseudogene activation may play a role in thyroid tumor development. + pmids: + - "19107232" + - text: hyperactivation of the MAPK pathway following activation of an inducible form of oncogenic C-Raf induces a senescence-like proliferation arrest in B-Raf mutant melanoma cells + pmids: + - "18650848" + - text: Hereditary pancreatitis patients with PRSS1 mutations also had mutations in BRAF and KRAS2. + pmids: + - "18946221" + - text: BRAF mutation is associated with the CpG island methylator phenotype in colorectal cancer from young patients + pmids: + - "18778891" + - text: "The frequencies of LOHs of 17q21, 17p13, 10q23, and 22q13 were higher in tumors with lymph node metastasis, suggesting that these LOHs may be important in increased lymph node metastasis." + pmids: + - "18628356" + - text: "CIMP-high appears to be an independent predictor of a low colon cancer-specific mortality, while BRAF mutation is associated with a high colon cancer-specific mortality." + pmids: + - "18832519" + - text: Observational study and meta-analysis of gene-disease association. (HuGE Navigator) + pmids: + - "19064572" + - text: "Examined associations between BRAF mutations, morphology, and apoptosis in early colorectal cancer." + pmids: + - "17924122" + - text: Wild-type BRAF is required for response to panitumumab or cetuximab in metastatic colorectal cancer. + pmids: + - "19001320" + - text: BRAF-V600E mutation is uncommon in endocrine tumors other than thyroid papillary carcinomas + pmids: + - "19003996" + - text: 8% of sporadic colorectal tumors in this study harbor mutation in the BRAF gene. + pmids: + - "18992635" + - text: ovarian cancer patients with KRAS or BRAF mutations may benefit from CI-1040 treatment + pmids: + - "19018267" + - text: Identification and functional characterization of a novel T599I-VKSR(600-603)del BRAF mutation in a patient with follicular variant papillary thyroid carcinoma. + pmids: + - "18697864" + - text: study shows high expression of p16(INK4a) or the absence of activated B-RAF correlates with in vivo response of melanoma to cytotoxic drugs + pmids: + - "18953432" + - text: "presence of the BRAF (V600E) mutation,the incidence of microsatellite instability high colorectal cancer in populations based study." + pmids: + - "18718023" + - text: These data suggest that regulation of BIM expression by BRAF-->MEK-->ERK signaling is one mechanism by which oncogenic BRAF(V600E) can influence the aberrant physiology of melanoma cells. + pmids: + - "18715233" + - text: MLH1 methylation and BRAF mutations are associated with microsatellite unstable colon tumors + pmids: + - "18615680" + - text: V600E BRAF mutation is associated with imatinib-resistant gastrointestinal stromal tumors + pmids: + - "18615679" + - text: The BRAF(V600E) mutation was demonstrated to be a poor prognostic factor independent from other clinicopathological features. + pmids: + - "18682506" + - text: the T1799A BRAF mutation is present in a proportion of posterior uveal melanomas but within these tumours the distribution of the mutation is heterogeneous. + pmids: + - "18985043" + - text: "rearrangement, which was not observed in a series of 244 higher-grade astrocytomas, results in an in-frame fusion gene incorporating the kinase domain of the BRAF oncogene" + pmids: + - "18974108" + - text: "With at least 3 markers methylated, new CIMP-positive colorectal cancers were closely associated with proximal tumor location, low frequency of KRAS mutation, and high frequency of BRAF mutation." + pmids: + - "18834226" + - text: BRAF mutation occurs independently of CpG island methylator phenotype and MSI in all types of serrated polyps and may serve as a marker of serrated pathway of colorectal carcinogenesis + pmids: + - "18798261" + - text: These data implicates a mitotic role for B-Raf in regulating spindle formation and the spindle checkpoint in human somatic cells. + pmids: + - "18787396" + - text: "BRAF, KRAS and PIK3CA mutations occur prior to malignant transformation demonstrating that these oncogenic alterations are primary genetic events in colorectal carcinogenesis" + pmids: + - "18782444" + - text: "People of southern European origin had lower risk of colorectal cancers with CIMP and BRAF mutation than people of Anglo-Celtic origin, which may in part be due to genetic factors that are less common in people of southern European origin." + pmids: + - "18628431" + - text: "Shorter overall survival in primary melanoma was associated with the presence of ulceration and BRAF exon 15 mutations, as well as the absence of nuclear activation of Akt and of cytoplasmic activation of ERK." + pmids: + - "18509361" + - text: study revealed a significant correlation of BRAFV600E mutation with a lower expression of both sodium iodide symporter and thyroperoxidase in papillary thyroid cancer + pmids: + - "18509003" + - text: This study confirms that the known MC1R-melanoma risk association is confined to subjects whose melanomas harbor BRAF mutations. + pmids: + - "18368129" + - text: Follicular histotypes of oncocytic thyroid carcinomas do not carry BRAF mutations + pmids: + - "18235983" + - text: focal gains at chromosome 7q34 and increased BRAF-MEK-ERK signaling are common findings in sporadic pilocytic astrocytomas + pmids: + - "18716556" + - text: Rac1b and B-Raf(V600E) functionally cooperate to sustain colorectal cell viability and suggest they constitute an alternative survival pathway to oncogenic K-Ras + pmids: + - "18602919" + - text: KRAS and BRAF mutations can impair response to anti-EGFR therapy for colorectal neoplasms + pmids: + - "18757341" + - text: lung adenocarcinoma of mixed type with a high incidence of papillary and lepidic growth may be worthwhile investigating for BRAF-V600E mutation as more genetically oriented drug therapies emerge. + pmids: + - "18636014" + - text: BRAF regulates melanoma proliferation through the lineage specific factor MITF + pmids: + - "18628967" + - text: "CST6, CXCL14, DHRS3, and SPP1 are regulated by BRAF signaling and may play a role in papillary thyroid carcinoma pathogenesis" + pmids: + - "18676742" + - text: oncogenic BRAF inhibition can have a different effect on cell fate depending on the cellular type + pmids: + - "18458053" + - text: aberrant methylation of the hMLH1 gene may play a role in BRAF mutation-promoted thyroid tumorigenesis + pmids: + - "18470905" + - text: a significant relationship in overall survival in colon cancer patients with defective DNA mismatch repair and the presence of a specific mutation in BRAF (V600E) + pmids: + - "18519771" + - text: Mitogen-activated protein kinase (MAPK) activity is subject to regulation even in BRAF/NRAS mutant melanoma cells and that high MAPK pathway signaling may be important only in distinct subsets of tumor cells. + pmids: + - "18323787" + - text: Presence of BRAF V600E in very early stages of papillary thyroid carcinoma. + pmids: + - "17542667" + - text: "in melanocytic lesions, BRAF(V600E) mutation can affect a subset of the cells and is associated with the type and quantity of sun exposure" + pmids: + - "18408659" + - text: study describes the biochemical characterization of novel BRAF and MEK germline mutations in cardio-facio-cutaneous syndrome + pmids: + - "18413255" + - text: co-overexpression of KIT/CDK4 is a potential mechanism of oncogenic transformation in some BRAF/NRAS wild-type melanomas + pmids: + - "18632627" + - text: BRAF and MEK1/2 mutations may be more common than anticipated in ovarian cancer which could have important implications for treatment of patients with this disease and suggests potential new therapeutic avenues + pmids: + - "18060073" + - text: "BRAF mutation testing of papillary thyroid carcinoma might improve the diagnosis, prognostic stratification and treatment of these tumors." + pmids: + - "18337114" + - text: "Compared to melanomas without BRAF mutations, melanomas with BRAF mutations showed statistically significantly higher degrees of intraepidermal scatter of melanocytes, and a higher proportion of melanocytes arranged in nests." + pmids: + - "18532874" + - text: "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "20413299" + - "20234366" + - "19884556" + - "19738388" + - "19603024" + - "19603018" + - "19289622" + - "19018267" + - "19001320" + - "18676756" + - "18669866" + - "18621636" + - text: "is commonly activated by somatic point mutation, it may provide possible diagnostic and therapeutic targets in human malignant tumors." + pmids: + - "18397470" + - text: "RKIP could play an important role in the down-regulation of wild-type BRAF, serving thus as an endogenous inhibitor of the MAPK pathway in nasal polyps and their adjacent turbinate mucosa." + pmids: + - "18329792" + - text: BRAF mutation is associated with disease stabilization in melanoma + pmids: + - "18375819" + - text: "Detecting BRAF mutation by pyrosequencing is more sensitive, faster, and less expensive than direct DNA sequencing." + pmids: + - "18382358" + - text: Thyroid cancers with BRAF mutation are preferentially sensitive to MEK inhibitors. + pmids: + - "18381570" + - text: CpG island methylator phenotype in colorectal neoplasms may result from activating mutations in either BRAF or KRAS. + pmids: + - "18435933" + - text: Results implicate aberrant activation of the MAPK pathway due to gene duplication or mutation of BRAF as a molecular mechanism of pathogenesis in low-grade astrocytomas and suggest inhibition of the MAPK pathway as a potential treatment. + pmids: + - "18398503" + - text: Mutant B-RAF mediates resistance to anoikis via Bad and Bim. + pmids: + - "18246127" + - text: BRAF mutations in colorectal cancer microsatellite-stable cases are associated with high levels of chromosomal instability that are likely responsible for the adverse outcomes in these cases + pmids: + - "18517279" + - text: Akt3 and mutant V600E B-Raf cooperate to promote early melanoma development. + pmids: + - "18451171" + - text: frequency of the occurrence of BRAF mutation and/or RET/PTC in H4-PTEN positive tumors was extremely high (75%) in papillary thyroid carcinoma + pmids: + - "18226854" + - text: B-Raf(V600E) signaling deregulates the mitotic spindle checkpoint through stabilizing Mps1 levels in melanoma cells. + pmids: + - "18071315" + - text: Aberrant BRAF and INK4A functionally interact to promote growth and survival of melanoma cells. + pmids: + - "18402768" + - text: BRAF-V600E mutation is associated with familial non-medullary thyroid carcinoma + pmids: + - "18310288" + - text: BRAF(V600E) mutation is asscoiated with papillary thyroid cancer + pmids: + - "18310287" + - text: BRAF T1799A mutation is associated with aggressive pathological outcomes of papillary thyroid cancer + pmids: + - "18310286" + - text: Important signalling role in T cell development. + pmids: + - "18228248" + - text: BRAF mutation is not associated with cutaneous melanoma + pmids: + - "18227705" + - text: "MSI is rare in UC-related neoplasia as well as non-neoplastic lesions, and does not contribute to the development of dysplasia." + pmids: + - "17454879" + - text: K-RAS and BRAF mutations are a frequent genetic event in our samples of sporadic papillary and medullary thyroid carcinoma. + pmids: + - "18383861" + - text: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) + pmids: + - "20736745" + - "20720566" + - "20702649" + - "20162668" + - "20043015" + - "19765726" + - "19237633" + - "18224685" + - text: "A worse clinical outcome was found for CIMP-high, microsatellite stable colorectal cancer with KRAS/BRAF mutation but not for those lacking KRAS/BRAF mutation." + pmids: + - "18199160" + - text: BRAF mutation represents a novel indicator of the progression and aggressiveness of papillary thyroid cancer (Review) + pmids: + - "17940185" + - text: BRAF provides proliferation and survival signals in MSI colorectal carcinoma cells displaying BRAF(V600E) but not KRAS mutations. + pmids: + - "18098337" + - text: "Observational study of genotype prevalence, gene-disease association, and genetic testing. (HuGE Navigator)" + pmids: + - "17693984" + - text: Meta-analysis of gene-disease association. (HuGE Navigator) + pmids: + - "17520704" + - text: Observational study of genetic testing. (HuGE Navigator) + pmids: + - "20703476" + - "20489114" + - "20098682" + - "20051945" + - "19850689" + - "19026650" + - "18759827" + - "18061181" + - "17312306" + - text: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) + pmids: + - "21048031" + - "20200438" + - "19358278" + - "19351817" + - "17507627" + - "17186541" + - "17148775" + - text: Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) + pmids: + - "16618717" + - text: Observational study of genotype prevalence. (HuGE Navigator) + pmids: + - "16687919" + - "16397024" + - text: Observational study of gene-disease association. (HuGE Navigator) + pmids: + - "21051183" + - "21049459" + - "20979647" + - "20975100" + - "20947270" + - "20945104" + - "20944096" + - "20881644" + - "20860430" + - "20840674" + - "20813562" + - "20802181" + - "20652941" + - "20647301" + - "20645028" + - "20640859" + - "20635392" + - "20631031" + - "20591910" + - "20571907" + - "20570909" + - "20569675" + - "20563851" + - "20543023" + - "20526288" + - "20501503" + - "20496269" + - "20495538" + - "20485284" + - "20473281" + - "20460314" + - "20453000" + - "20444249" + - "20381121" + - "20305537" + - "20303012" + - "20302979" + - "20300843" + - "20187782" + - "20186801" + - "20177422" + - "20118768" + - "20049644" + - "20009493" + - "20008640" + - "19960590" + - "19955937" + - "19935791" + - "19919912" + - "19913317" + - "19908233" + - "19903786" + - "19861964" + - "19826477" + - "19704056" + - "19686742" + - "19679059" + - "19652585" + - "19628078" + - "19626635" + - "19584155" + - "19571295" + - "19561230" + - "19551857" + - "19547661" + - "19504446" + - "19498322" + - "19487299" + - "19430562" + - "19404918" + - "19404844" + - "19393416" + - "19370505" + - "19369630" + - "19355825" + - "19240718" + - "19190129" + - "19190105" + - "19178815" + - "19159571" + - "19152441" + - "19147753" + - "19142971" + - "19133693" + - "19127559" + - "19034577" + - "19033861" + - "19014278" + - "19012001" + - "18992635" + - "18980976" + - "18840924" + - "18794094" + - "18782444" + - "18778891" + - "18757433" + - "18682506" + - "18615680" + - "18615679" + - "18594528" + - "18592405" + - "18383861" + - "18368129" + - "18000091" + - "17785355" + - "17717450" + - "17566669" + - "17487277" + - "17453358" + - "17393356" + - "17309670" + - "17270239" + - "17195912" + - "17159915" + - "16973828" + - "16918957" + - "16728573" + - "16691193" + - "16601293" + - "16487015" + - "16452550" + - "16376942" + - "16354196" + - "16268813" + - "16181547" + - "16181240" + - "16174717" + - "16144912" + - "16143028" + - "16098042" + - "16024606" + - "16015629" + - "15994075" + - "15968271" + - "15904951" + - "15824163" + - text: Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) + pmids: + - "14722037" + - text: BRAF interacts with PLCepsilon1 in nephrotic syndrome type 3. Both proteins are coexpressed and colocalize in developing and mature glomerular podocytes. + pmids: + - "17942568" + - text: "A genome-wide RNA-interference screening to identify genes required for an activated BRAF oncogene to block proliferation of fibroblasts and melanocytes revealed that a IGFBP7, has a central role in BRAF-mediated senescence and apoptosis." + pmids: + - "18267069" + - text: Detection of BRAF improves the diagnosis in fine-needle biopsy with cytological findings suspicious for papillary thyroid carcinoma. + pmids: + - "18045960" + - text: "the results of HRAS, BRAF and MAP2K1/2 mutation screening in a large cohort of patients with CS and CFC" + pmids: + - "18042262" + - text: "Because of the very sensitive pyrophosphorolysis-activated polymerization (PAP)technology, B-RAF mutations were found in cell lines and primary uveal melanomas." + pmids: + - "18172070" + - text: "mutation of N-RAS or B-RAF, signature genetic lesions present in most MMs, potently induced the expression of cell-surface CD200, a repressor of DC function." + pmids: + - "18008004" + - text: MEK inhibition is cytostatic in papillary thyroid cancer and anaplastic thyroid cancer cells bearing a BRAF mutation + pmids: + - "17878251" + - text: "BRAF gene plays a \"gatekeeper\" role but does not act as a predisposition gene in the development of low-grade ovarian serous carcinomas" + pmids: + - "17309670" + - text: "effects of a MEK inhibitor, CI-1040, on thyroid cancer cells, some of which, particularly cell proliferation and tumor growth, seemed to be BRAF mutation or RAS mutation selective" + pmids: + - "17911174" + - text: "BRAF(V600E) mutation detected on fine-needle aspiration biopsy specimens, more than RET/PTC rearrangements, is highly specific for papillary thyroid carcinoma." + pmids: + - "17727338" + - text: "5 unreported mutations (T241P, Q262R, G464R, E501V, N581K) were found in cardio-facio-cutaneous syndrome. A hotspot in exon 6 at Q257 was found." + pmids: + - "17704260" + - text: diffuse expression of wild-type and/or mutant B-Raf may be involved in the tumorigenic process + pmids: + - "17714762" + - text: There was no coexistence of BRAF (V600E) mutation in papillary thyroid carcinoma. + pmids: + - "17693984" + - text: "The BRAF mutation is common in melanomas, but variation in rates across melanoma subtypes points to a complex interplay between BRAF activation and other factors (eg, sun exposure)." + pmids: + - "18032947" + - text: BRAF V600E mutation is associated with high-risk papillary thyroid carcinoma + pmids: + - "17785355" + - text: no BRAF mutations identified in 65 screened JMML patients; this gene is unlikely to play a role in the pathogenesis of JMML. + pmids: + - "18024410" + - text: BRAF mutation is associated as early as the hyperplastic polyp stage followed by microsatellite instability at the carcinoma stage + pmids: + - "17914558" + - text: BRAF V600E mutation is primarily present in conventional papillary thyroid cancer; it is associated with an aggressive tumor phenotype and higher risk of recurrent and persistent disease in patients with conventional papillary thyroid cancer + pmids: + - "17717450" + - text: "In this small study, the T1799A BRAF mutation was identified in almost half of the iris melanoma tissues samples examined. This finding suggests that there may be genetic as well as clinical differences between iris and posterior uveal melanomas." + pmids: + - "17962436" + - text: BRAFV600E mutations were found in 41.2% of the papillary thyroid carcinomas + pmids: + - "17786355" + - text: These results suggest that papillary thyroid carcinomas with BRAF (V600E) mutation are more aggressive than those with wildtype BRAF. + pmids: + - "17972530" + - text: B-RAF has been identified as the most mutated gene in invasive cells and therefore an attractive therapeutic target in melanoma. + pmids: + - "16912199" + - text: PPARbeta/delta has a role in growth of RAF-induced lung adenomas + pmids: + - "17671688" + - text: "data showed differences in gene expression between nevi with and without the V600E BRAF mutation. Moreover, nevi with mutations showed over-expression of genes involved in melanocytic senescence and cell cycle inhibition" + pmids: + - "17696195" + - text: We conclude that screening for BRAF 15 exon mutation is an efficient tool in the diagnostic strategy for HNPCC + pmids: + - "17566669" + - text: c-kit expression is not alternative to BRAF and/or KRAS activation. + pmids: + - "17487504" + - text: "KLF6 and p53 mutations are involved in the development of nonpolypoid colorectal carcinoma, whereas K-ras and B-raf mutations are not" + pmids: + - "17663506" + - text: "Normally, BRAF alone is responsible for signaling to MEK. However, when RAS is mutated in melanoma, melanocytes switch their signaling from BRAF to CRAF." + pmids: + - "17018604" + - text: "data indicate that both early-life UV exposure and nevus propensity contribute to occurrence of BRAF+ melanoma, whereas nevus propensity and later-life sun exposure influence the occurrence of NRAS+ melanoma" + pmids: + - "17507627" + - text: The heterogeneous distribution of BRAF mutations suggests that discrete tumor foci in multifocal PTC may occur as independent tumors. + pmids: + - "17535994" + - text: "In contrast to C-RAF that requires farnesylated H-Ras, cytosolic B-RAF associates effectively and with significantly higher affinity with both farnesylated and nonfarnesylated H-Ras." + pmids: + - "17635919" + - text: T1790A BRAF mutation (L597Q) in childhood acute lymphoblastic leukemia is a functional oncogene + pmids: + - "17525723" + - text: prevalence of BRAF mutation and RET/PTC were determined in diffuse sclerosing variant of papillary thyroid carcinoma; none of the cases showed a BRAF mutation + pmids: + - "17464312" + - text: RNA interference and pharmacologic approaches were used to assess the role of B-Raf activation in the growth of human melanomas and additionally determined if a similar role for mutant B-Raf is seen for colorectal carcinoma cell lines. + pmids: + - "17699719" + - text: BRAF V600E mutation in papillary carcinoma of the thyroid may facilitate tumor cell growth and progression once seeded in the lymph nodes. + pmids: + - "17685465" + - text: Develompment of malignant strumo ovarii with papillary thyroid carcinoma features is associated with BRAF mutations. + pmids: + - "17721188" + - text: RASSF1A methylation was observed in a high frequency in endometrioid endometrial carcinoma whereas K-ras and B-raf mutations were observed in a low frequency + pmids: + - "17170014" + - text: "among 23 melanomas located at body sites with chronic UV exposure, only a single tumour harboured the B-raf V599E mutation which was a significantly lower frequency in comparison to melanomas from sun-protected body sites" + pmids: + - "16773193" + - text: frequency of the BRAF mutation and the associations between BRAF mutation and clinicopathologic parameters in papillary thyroid carcinoma were evaluated by meta-analysis + pmids: + - "17520704" + - text: Molecular diagnosis and careful observations should be considered in children with Cardio-facio-cutaneous syndrome because they have germline mutations in BRAF and might develop malignancy. + pmids: + - "17483702" + - text: BRAF V600E mutation in PTCs is associated with reduced expression of key genes involved in iodine metabolism + pmids: + - "17488796" + - text: These data suggest that MITF is an anti-proliferation factor that is down-regulated by B-RAF signaling and that this is a crucial event for the progression of melanomas that harbor oncogenic B-RAF. + pmids: + - "16129781" + - text: Mutations of BRAF are associated with extensive hMLH1 promoter methylation in sporadic colorectal carcinomas + pmids: + - "14639609" + - text: BRAF(V600E) mutation is identified in a subset of cutaneous metastases from papillary thyroid carcinomas + pmids: + - "17387744" + - text: BRAF mutations are restricted to papillary carcinomas and poorly differentiated and anaplastic carcinomas arising from papillary carcinomas + pmids: + - "14602780" + - text: 3 cell lines derived from human choroidal melanoma express B-Raf containing the V599E mutation and showed a 10-fold increase in endogenous B-RafV599E kinase activity and a constitutive activation of the MEK/ERK pathway that is independent of Ras + pmids: + - "12917419" + - text: High prevalence of BRAF mutations in thyroid cancer is genetic evidence for constitutive activation of the RET/PTC-RAS-BRAF signaling pathway in papillary thyroid carcinoma. + pmids: + - "12670889" + - text: BRAF V600E mutation was occasionally observed in anaplastic carcinomas with papillary carcinoma. + pmids: + - "17453004" + - text: Our findings of a high frequency of BRAF mutations at codon 599 in benign melanocytic lesions of the skin indicate that this mutation is not sufficient by itself for malignant transformation. + pmids: + - "14501284" + - text: "B-RAF (V600E) was confirmed to be associated with the papillary growth pattern, but not with poorer differentiated papillary thyroid carcinoma variants." + pmids: + - "16728573" + - text: "Copy gain of PDGFB occurs in a subset of tumors showing no evidence of mutated BRAF or rearranged ret, suggesting that copy gain of PDGFB may underlie the increased expression of platelet-derived growth factor described recently in the literature." + pmids: + - "17227125" + - text: The aim of this study was to identify the effect that BRAF oncogene has on post-transcriptional regulation in papillary thyroid carcinoma by using microRNA analysis. + pmids: + - "17355635" + - text: "gene is mutated in skin melanoma, but not in uveal melanomas" + pmids: + - "12778069" + - text: BRAF mutations are as uncommon as KRAS mutations in prostate adenocarcinoma + pmids: + - "16721785" + - text: BRAF mutation is associated with thyroid carcinogenesis + pmids: + - "17186541" + - text: Both BRAF and FBXW7 mutations functionally activate kinase effectors important in pancreatic cancer and extend potential options for therapeutic targeting of kinases in treatment of phenotypically distinct pancreatic adenocarcinoma subsets. + pmids: + - "14507635" + - text: Missense mutation is marker of colonic but not gastric cancer. + pmids: + - "14668801" + - text: BRAF T1976A mutation is present at high frequency in benign naevi such as Spitz and Reed. + pmids: + - "16987295" + - text: These studies identify isoprenylcysteine carboxyl methyltransferase as a potential target for reducing the growth of K-Ras- and B-Raf-induced malignancies. + pmids: + - "14966563" + - text: "results demonstrate that the mutational status of BRAF and KRAS is distinctly different among histologic types of ovarian serous carcinoma, occurring most frequently in invasive micropapillary serous carcinomas and its precursors, serous borderline tumors" + pmids: + - "12644542" + - text: The finding of tandem mutations in thin melanomas makes it more likely that they arise as a simultaneous rather than sequential event. + pmids: + - "15140228" + - text: determination of mutation specific gene expression profiles in papillary thyroid carcinoma + pmids: + - "16007166" + - text: BRAF mutation does not seem to be sufficient to produce MAPK activation in melanocytic nevi. + pmids: + - "16417232" + - text: Uceal melanomas arise independent of oncogenic BRAF and NRAS mutations. + pmids: + - "14522897" + - text: activation of this gene may be one of the early events in the pathogenesis of some melanomas. + pmids: + - "15191558" + - text: Mutations of BRAF or KRAS oncogenes are early events in the serrated polyp neoplasia pathway. CpG island methylation plays a role in serrated polyp progression to colorectal carcinoma. + pmids: + - "15489648" + - text: B-raf V599E and V599K oncogenic mutations are likely to affect melanocyte-specific pathways controlling proliferation and differentiation + pmids: + - "15935100" + - text: Mutations are not detectable in plasma cell leukemia and multiple myeloma. + pmids: + - "12931219" + - text: "findings show that MC1R variants are strongly associated with BRAF mutations in non-chronic sun-induced damage melanomas; in this subtype, risk for melanoma associated with MC1R is due to increase in risk of developing melanomas with BRAF mutations" + pmids: + - "16809487" + - text: Expression of p27Kip1 in melanoma is regulated by B-RAF at the mRNA level and via B-RAF control of Cks1/Skp2-mediated proteolysis. + pmids: + - "16924241" + - text: BRAF(V599E) mutation is seven times higher in lesions with structural changes and 13 times higher in growing lesions as compared with lesions without changes + pmids: + - "15373778" + - text: Single-cell clones with efficient knockdown of (V 600 E)B-RAF could be propagated in the presence of basic fibroblast growth factor but underwent apoptosis or senescence-like growth arrest upon withdrawal of this growth factor + pmids: + - "16007203" + - text: "mutational analysis of KRAS, BRAF, and MAP2K1/2 in 56 patients with CFC syndrome; comparison of the genotype-phenotype correlation of CFC with that of Costello syndrome suggest a significant clinical overlap but not genotype overlap." + pmids: + - "17366577" + - text: "BRAF is occasionally mutated in NHL, and BRAF mutation may contribute to tumor development in some NHLs" + pmids: + - "14612909" + - text: "sustained BRAF(V600E) expression in human melanocytes induces cell cycle arrest, which is accompanied by the induction of both p16(INK4a) and senescence-associated acidic beta-galactosidase (SA-beta-Gal) activity, a commonly used senescence marker" + pmids: + - "16079850" + - text: BRAF mutation in melanoma is most likely to occur prior to the development of metastatic disease + pmids: + - "16096377" + - text: Activating BRAF mutation is associated with papillary thyroid carcinoma + pmids: + - "17044028" + - text: B-raf is involved in adhesion-independent ERK1/2 signaling in melanocytes + pmids: + - "12821662" + - text: Mutations in BRAF gene is associated with malignant melanomas + pmids: + - "14961576" + - text: "in contrast to cutaneous melanoma, BRAF does not appear to be involved in the pathogenesis of uveal melanoma" + pmids: + - "15179189" + - text: B-Raf kinase activity regulation by tuberin and Rheb is mammalian target of rapamycin (mTOR)-independent + pmids: + - "15150271" + - text: mutated in childhood acute lymphoblastic leukemia. + pmids: + - "15538400" + - text: a novel Ras-independent ERK1/2 activation system in which p110gamma/Raf-1/MEK1/2 and PKA/B-Raf/MEK1/2 cooperate to activate ERK1/2. + pmids: + - "15653554" + - text: "AKAP9-BRAF fusion was preferentially found in radiation-induced papillary carcinomas developing after a short latency, whereas BRAF point mutations were absent in this group" + pmids: + - "15630448" + - text: activating BRAF mutations may be an important event in the development of papillary thyroid cancer + pmids: + - "12697856" + - text: BRAF mutations were seen in stomach neoplasms. + pmids: + - "14534542" + - text: "In patients with papillary thyroid cancer, BRAF mutation is associated with poorer clinicopathological outcomes and independently predicts recurrence." + pmids: + - "16174717" + - text: copy number gain may represent another mechanism of BRAF activation in thyroid tumors + pmids: + - "16199894" + - text: B-Raf has a role in extracellular signal-regulated kinase (ERK) signaling in T cells and prevents antigen-presenting cell-induced anergy + pmids: + - "12855697" + - text: "13 germline BRAF variants, 4 of which were silent mutations in coding regions & 9 nucleotide substitutions in introns, were found in melanoma patients and melanoma family, but none appeared statistically likely to be a melanoma susceptibility gene." + pmids: + - "12810628" + - text: "Although BRAF and NRAS mutations are likely to be important for the initiation and maintenance of some melanomas, other factors might be more significant for proliferation and prognosis in subgroups of aggressive melanoma" + pmids: + - "16098042" + - text: Merlin and MLK3 can interact in situ and merlin can disrupt the interactions between B-Raf and Raf-1 or those between MLK3 and either B-Raf or Raf-1. + pmids: + - "16537381" + - text: "A subset of Spitz nevi, some with atypical histologic features, possess BRAF mutations. The BRAF mutational status does not separate all Spitz nevi from spitzoid melanomas and non-Spitz types of melanocytic proliferations, contrary to previous reports." + pmids: + - "16799476" + - text: "CpG island methylator phenotype-positive colorectal tumors represent a distinct subset, encompassing almost all cases of tumors with BRAF mutation" + pmids: + - "16804544" + - text: phosphorylation on both S365 and S429 participate in the differential regulation of B-Raf isoforms through distinct mechanisms + pmids: + - "17074813" + - text: "BRAF mutation remained a significant prognostic factor for lymph node metastasis (odds ratio = 10.8, 95% confidence interval, 3.5-34.0, P < 0.0001)." + pmids: + - "17060774" + - text: Absence of association between BRAF mutation and activation of MAPK pathway in papillary thyroid carcinoma suggests the presence of mechanisms that downregulate MAPK activation. + pmids: + - "17199737" + - text: "finding of a strong association between BRAF mutations and serrated histology in hyperplastic aberrant crypt foci supports the idea that these lesions are an early, sentinel, or a potentially initiating step on the serrated pathway to colorectal carcinoma" + pmids: + - "17440063" + - text: "The BRAF(V599E) mutation appears to be an alternative event to RET/PTC rearrangement rather than to RAS mutations, which are rare in PTC. BRAF(V599E) may represent an alternative pathway to oncogenic MAPK activation in PTCs without RET/PTC activation." + pmids: + - "12881714" + - text: mutation of BRAF gene could be a potentially useful marker of prognosis of patients with advanced thyroid cancers + pmids: + - "12970315" + - text: NRAS and BRAF mutations arise early during melanoma pathogenesis and are preserved throughout tumor progression + pmids: + - "14695152" + - text: "BRAF mutations, which are present in a variety of other human cancers, do not seem to be involved in gastric cancer development" + pmids: + - "14513361" + - text: Radiation-induced tumors have a low prevalence of BRAF point mutations and high prevalence of RET/PTC rearrangements + pmids: + - "15145515" + - text: Our data indicate that BRAF gene mutations are rare to absent events in uveal melanoma of humans. + pmids: + - "14691295" + - text: The lack or low prevalence of BRAF mutation in other thyroid neoplasms is consistent with the notion that other previously defined genetic alterations on the same signaling pathway are sufficient to cause tumorigenesis in most thyroid neoplasms. + pmids: + - "15001635" + - text: we found 19 cases (38%) to harbor somatic B-raf exon 15 mutations. + pmids: + - "15331929" + - text: autoinhibition was negatively regulated by acidic substitutions at phosphorylation sites within the activation loop + pmids: + - "15710605" + - text: "The oncogenic B-raf mutations V599E and V599K, as early events in melanocyte transformation, persist throughout metastasis with important prognostic implications." + pmids: + - "16179870" + - text: "As the BRAF oncogene is frequently found to be mutated in human cutaneous melanomas, it may constitute a risk factor for melanoma formation within CMN and DMN." + pmids: + - "16179867" + - text: Mutation and elevated expression of BRAF is associated with the development of testicular germ cell tumors + pmids: + - "16354586" + - text: "aberrant B-Raf activity in angiomyolipomas leads to abnormal cellular differentiation and migration [review]" + pmids: + - "16382052" + - text: BRAF V600E is associated with a high risk of recurrence and less differentiated papillary thyroid carcinoma due to the impairment of Na+/I- targeting to the membrane + pmids: + - "16601293" + - text: BRAF mutation is associated with melanoma and melanocytic nevi. + pmids: + - "16845322" + - text: Rheb has a central role in the regulation of the Ras/B-Raf/C-Raf/MEK signaling network + pmids: + - "16803888" + - text: findings show that RASSF1A hypermethylation and KRAS mutations and BRAF mutations are inversely correlated and play an important role in the development of cervical adenocarcinomas + pmids: + - "17360030" + - text: "low rate of RAS-RAF mutations (2/22, 9.1%) observed in Spitz melanocytic nevi suggests that these lesions harbor as yet undetected activating mutations in other components of the RAS-RAF-MEK-ERK-MAPK pathway" + pmids: + - "17518771" + - text: The V599E BRAF mutation appears to be a somatic mutation associated with melanoma development and/or progression in a proportion of affected individuals. + pmids: + - "12619120" + - text: BRAF mutation may be acquired during development of metastasis but is not a significant factor for primary melanoma development and disease outcome. + pmids: + - "15014028" + - text: New enriched PCR-RFLP assay for detecting mutations of BRAF codon 599 mutation in pleural mesotheliomas. + pmids: + - "14719068" + - text: BRAF mutations are frequently present in sporadic colorectal cancer with methylated hMLH1 + pmids: + - "14734469" + - text: "Data provide evidence that B-Raf is a positive regulator of T cell receptor-mediated sustained ERK activation, which is required for NFAT activation and the full production of IL-2." + pmids: + - "15339934" + - text: "The data of this study suggest that activating mutations of B-RAF are not a frequent event in gliomas; nevertheless, when present they are associated with high-grade malignant lesions." + pmids: + - "15791479" + - text: "selective reduction in catalytic activity and expression of B-Raf but not Raf-1 suggest that B-Raf may be playing an important role in altered ERK signaling in brain of suicide subjects, and thus in the pathophysiology of suicide" + pmids: + - "16172610" + - text: KSHV-infected cell lines expressed higher levels of B-Raf and VEGF-A; B-Raf-induced VEGF-A expression was demonstrated to be sufficient to enhance tubule formation in endothelial cells + pmids: + - "15705790" + - text: B-Raf and ERK are activated by cyclic AMP after calcium restriction + pmids: + - "15263001" + - text: "REVIEW: our understanding of B-RAF as an oncogene and of its role in cancer" + pmids: + - "15488754" + - text: "In this study, this BRAF mutation was demonstrated in some conjunctival melanoma tissue samples, suggesting that some conjunctival melanomas may share biological features in common with cutaneous melanoma." + pmids: + - "15277467" + - text: BRAF mutations proved to be absent in tumors from hereditary nonpolyposis colorectal cancer syndrome (HNPCC) families with germline mutations in the MMR genes MLH1 and MSH2. + pmids: + - "15782118" + - text: Anaplastic thyroid carcinomas which are derived from papillary carcinomas are due to BRAF and p53 mutations + pmids: + - "15880523" + - text: The increasing frequency of BRAF mutations as a function of age could help account for the well documented but poorly understood observation that age is a relevant prognostic indicator for patients with papillary thyroid carcinoma. + pmids: + - "15968271" + - text: Mutations of the BRAF gene are partly involved in the malignant transformation of the endometrium. + pmids: + - "16144912" + - text: V599E BRAF mutation was uncommon in Japanese lung cancer. + pmids: + - "16376942" + - text: wild-type B-Raf-mediated ERK1/2 activation plays a major role in proliferation and transformation of uveal melanocytes; Raf-1 is not involved in this activation + pmids: + - "16452469" + - text: Braf mutations in thyroid tumorigenesis. + pmids: + - "16946010" + - text: data support a model in which mutational activation of BRAF in human melanomas contributes to constitutive induction of NF-kappaB activity and to increased survival of melanoma cells + pmids: + - "17001349" + - text: The role for BRAF activation in thyroid cancer development and establishing the potential therapeutic efficacy of BRAF-targeted agents in patients with thyroid cancerwill be reviewed. + pmids: + - "17179987" + - text: characterization of the T1799-1801del and A1799-1816ins BRAF mutations in papillary thyroid cancer; the two new mutations resulted in constitutive activation of the BRAF kinase and caused NIH3T3 cell transformation + pmids: + - "17297294" + - text: "BRAF mutations in colorectal cancers occur only in tumours that do not carry mutations in a RAS gene known as KRAS, and BRAF mutation is linked to the proficiency of these tumours in repairing mismatched bases in DNA" + pmids: + - "12198537" + - text: "cAMP activates ERK and increases proliferation of autosomal dominant polycystic kindey epithelial cells through the sequential phosphorylation of PKA, B-Raf and MAPK in a pathway separate from the classical receptor tyrosine kinase cascade" + pmids: + - "12753285" + - text: BRAF mutations are associated with proximal colon tumors with mismatch repair deficiency and MLH1 hypermethylation. + pmids: + - "14695993" + - text: "RAS or BRAF mutations are detected in about 32% of all Barrett's adenocarcinomas; the disruption of the Raf/MEK/ERK (MAPK) kinase pathway is a frequent but also early event in the development of Barrett's adenocarcinoma" + pmids: + - "14724583" + - text: BRAF mutations are rather rare in solitary cold adenomas and adenomatous nodules and do not explain the molecular etiology of ras mutation-negative cold thyroid nodules. + pmids: + - "15186612" + - text: mutated in papillary thyroid cancer. + pmids: + - "15273715" + - text: High frequency of BRAF mutations in nevi + pmids: + - "12447372" + - text: These results suggest that the BRAF mutation is unlikely to be involved in gastric carcinogenesis. + pmids: + - "15104286" + - text: Mutations within the BRAF gene are useful markers for the differential diagnosis between Spitz nevus and malignant melanoma. + pmids: + - "15330192" + - text: These results suggest that BRAF mutations do not have a role in tumorigenesis of neuroendocrine gastroenteropancreatic tumors. + pmids: + - "15842051" + - text: Mutations in the BRAF protooncogene (V599E)may be an alternative pathway of tumorigenesis of familial colorectal cancer. + pmids: + - "15765445" + - text: "The results showed that conjunctival nevi, similar to skin nevi, have a high frequency of oncogenic BRAF mutations." + pmids: + - "16123397" + - text: Data suggest that B-RAF activates C-RAF through a mechanism involving 14-3-3 mediated heterooligomerization and C-RAF transphosphorylation. + pmids: + - "16364920" + - text: "The estimated proportion of attributable risk of melanoma due to variants in BRAF is 1.6%, but the burden of disease associated with this variant is greater than that associated with the major melanoma locus (CDKN2A) which has a risk of 0.2%." + pmids: + - "16354196" + - text: Melanoma cells require either B-RAF or phosphoinositide-3 kinase activation for protection from anoikis. + pmids: + - "16547495" + - text: a BRAFT1799A mutation may have a role in poor differentiation of thyroid carcinoma + pmids: + - "16786134" + - text: "Thus, we propose that the hitherto unidentified function of the B-Raf amino-terminal region is to mediate calcium-dependent activation of B-Raf and the following MEK activation, which may occur in the absence of Ras activation." + pmids: + - "16858395" + - text: BRAF mutation was frequent in hyperplastic polyps (67%) and sessile serrated adenomas (81%). + pmids: + - "16879389" + - text: BRAF mutations are associated with colorectal cancers + pmids: + - "16918136" + - text: "BRAFV600E activates not only MAPK but also NF-kappaB signaling pathway in human thyroid cancer cells, leading to an acquisition of apoptotic resistance and promotion of invasion." + pmids: + - "16959844" + - text: "data provide evidence that oncogenic properties of BRAF contribute to the tumorigenesis of intraductal papillary mucinous neoplasm/carcinoma (IPMN/IPMC), but at a lower frequency than KRAS" + pmids: + - "17097223" + - text: there is a subgroup of colorectal carcinomas which develop via the microsatellite instability pathway that carry an alteration of the BRAF gene + pmids: + - "17195912" + - text: "Overexpression of B-Raf mRNA and protein may be a feature of nonfunctioning pituitary adenomas, highlighting overactivity of the Ras-B-Raf-MAP kinase pathway in these tumors." + pmids: + - "17302867" + - text: data suggest that BRAF mutations might be present less frequently than KRAS mutations in Greek patients with colorectal carcinomas + pmids: + - "17393356" + - text: Data suggest that BRAF T1796A activating mutation is not common in primary uveal melanoma. + pmids: + - "12824225" + - text: Mutations were found in exon 15 in colorectal adenocarcinoma. + pmids: + - "14688025" + - text: "BRAF(V599E) is more common genetic alteration found to date in adult sporadic papillary thyroid carcinomas (PTCs). It is unique for this thyroid cancer histotype, and it might drive the development of PTCs of classic papillary subtype." + pmids: + - "15126572" + - text: Data suggest that Rit is involved in a novel pathway of neuronal development and regeneration by coupling specific trophic factor signals to sustained activation of the B-Raf/ERK and p38 MAP kinase cascades. + pmids: + - "15632082" + - text: B-raf mutations surrounding Thr439 found in human cancers are unlikely to contribute to increased oncogenic properties of B-raf + pmids: + - "15791648" + - text: Role of BRAF mutation in facilitating metastasis and progression of papillary thyroid cancer in lymph nodes. + pmids: + - "15998781" + - text: V600E B-Raf requires the Hsp90 chaperone for stability and is degraded in response to Hsp90 inhibitors. + pmids: + - "16371460" + - text: "The authors have developed and run a high-throughput screen to find inhibitors of V600E BRAF using an enzyme cascade assay in which oncogenic BRAF activates MEK1, which in turn activates ERK2, which then phosphorylates the transcription factor ELK1." + pmids: + - "16361694" + - text: mutations in the BRAF gene and to some extent in the N-ras gene represent early somatic events that occur in melanocytic nevi + pmids: + - "15009715" + - text: possible cooperation between BRAF activation and PTEN loss in melanoma development. + pmids: + - "15009714" + - text: "Data suggest that SPRY2, an inhibitor of ERK signaling, may be bypassed in melanoma cells either by down-regulation of its expression in WT BRAF cells, or by the presence of the BRAF mutation." + pmids: + - "15313890" + - text: The most frequent B-RAF gene alterations are not involved in prostate carcinogenesis + pmids: + - "16413100" + - text: mucosal melanomas of the head and neck do not frequently harbor an activating mutation of BRAF + pmids: + - "15161700" + - text: somatic missense mutations in 66% of malignant melanomas and at lower frequency in a wide range of human cancers + pmids: + - "12068308" + - text: ovarian serous cystadenomas do not contain mutations in either BRAF or KRAS genes + pmids: + - "15077125" + - text: BRAF mutations are associated with conjunctival neoplasms + pmids: + - "15577314" + - text: "We found mutations in p53, K-ras, and BRAF genes in 35%, 30%, and 4% of tumors, respectively, and observed a minimal or no co-presence of these gene alterations." + pmids: + - "15702478" + - text: BRAF mutation occurs later in thyroid tumor progression and is restricted mainly to papillary thyroid carcinoma and anaplastic thyroid carcinoma + pmids: + - "15980887" + - text: "findings demonstrate that heterogeneous de novo missense mutations in three genes within the mitogen-activated protein kinase pathway, BRAF, MEK1 and MEK2 cause cardio-facio-cutaneous syndrome" + pmids: + - "16439621" + - text: Cardio-facio-cutaneous (CFC) syndrome involves dysregulation of the RAS-RAF-ERK pathway. + pmids: + - "16474404" + - text: gain-of-function BRAF signaling is strongly associated with in vivo tumorigenicity + pmids: + - "16424035" + - text: "NRAS and BRAF activating mutations can coexist in the same melanoma, but are mutually exclusive at the single-cell level" + pmids: + - "16462768" + - text: "Aberrant methylation and hence silencing of TIMP3, SLC5A8, DAPK and RARbeta2, in association with BRAF mutation, may be an important step in PTC tumorigenesis and progression." + pmids: + - "16858683" + - text: "BRAF, K-ras and BAT26 are expressed in colorectal polyps and stool" + pmids: + - "16937524" + - text: "Previously identified associations between smoking and colon cancer, whether microsatellite unstable or stable, appear to be explained by the association of smoking with BRAF mutation." + pmids: + - "17148775" + - text: BRAF(T1799A) mutation is associated with a lower rate of tumor proliferation. + pmids: + - "17159915" + - text: B-RAF mutations are a rare event in pituitary tumorigenesis. + pmids: + - "17318013" + - text: analysis of a BRAF mutation-associated gene expression signature in melanoma + pmids: + - "17516929" + - text: BRAF has a role in in squamous cell carcinoma of the head and neck through uncommon mutations + pmids: + - "12879021" + - text: None of the cases of gastric cancer showed braf mutations + pmids: + - "14618633" + - text: Mucinous ovarian cancers without a KRAS mutation have not sustained alternative activation of this signaling pathway through mutation of the BRAF oncogene. + pmids: + - "12893203" + - text: "activating mutations of PDGFR-alpha, c-kit and B-RAF are absent in gliosarcomas" + pmids: + - "16373964" + - text: "UV light is not necessarily required for the acquisition of the BRAF(V600E) mutation, and non-mutagenic effects of UV light to melanocytes may be more important in the nevogenesis" + pmids: + - "16691193" + - text: Single nucleotide polymorphism found exclusively in papillary thyroid carcinoma. + pmids: + - "16932278" + - text: "Concomitant KRAS and BRAF mutations increased along progression of MSS colorectal cancer, suggesting that activation of both genes is likely to harbour a synergistic effect" + pmids: + - "16953233" + - text: Extracellular signal-regulated kinase-3 (ERK3/MAPK6) is highly expressed in response to BRAF signaling. + pmids: + - "16964379" + - text: Association with preexisting nevi and pronounced infiltration of lymphocytes was significantly higher in BRAF mutated melanoma tumours + pmids: + - "17119447" + - text: BRAF-V600E mutations are mainly involved in colorectal cancer families characterized by an increased risk of other common malignancies + pmids: + - "17119056" + - text: BRAFV600E represents a detectable marker in the plasma/serum from melanoma patients for monitoring but not diagnostic purposes + pmids: + - "17315191" + - text: MEK1 interacts with B-Raf. + pmids: + - "8621729" +- gene_id: "3845" + summary: "This gene, a Kirsten ras oncogene homolog from the mammalian ras gene family, encodes a protein that is a member of the small GTPase superfamily. A single amino acid substitution is responsible for an activating mutation. The transforming protein that results is implicated in various malignancies, including lung adenocarcinoma, mucinous adenoma, ductal carcinoma of the pancreas and colorectal carcinoma. Alternative splicing leads to variants encoding two isoforms that differ in the C-terminal region. [provided by RefSeq, Jul 2008]" + rif_entries: + - text: Expansion of KRAS hotspot mutations reactive T cells from human pancreatic tumors using autologous T cells as the antigen-presenting cells. + pmids: + - "36436020" + - text: "[Landscape of KRAS, BRAF, and PIK3CA Mutations and Clinical Features of EBV-Associated and Microsatellite Unstable Gastric Cancer]." + pmids: + - "36976740" + - text: Distribution and prognostic impact of EGFR and KRAS mutations according to histological subtype and tumor invasion status in pTis-3N0M0 lung adenocarcinoma. + pmids: + - "36918771" + - text: Analysis of KRAS Mutations in Gastrointestinal Tract Adenocarcinomas Reveals Site-Specific Mutational Signatures. + pmids: + - "36853786" + - text: Impact of KRAS Mutations on Clinical Outcomes of Patients with Advanced Non-Squamous Non-Small Cell Lung Cancer Receiving Anti-PD-1/PD-L1 Therapy. + pmids: + - "36482151" + - text: Elevated FSP1 protects KRAS-mutated cells from ferroptosis during tumor initiation. + pmids: + - "36443441" + - text: Mutant KRAS Drives Immune Evasion by Sensitizing Cytotoxic T-Cells to Activation-Induced Cell Death in Colorectal Cancer. + pmids: + - "36599679" + - text: Oncogenic RAS promotes MYC protein stability by upregulating the expression of the inhibitor of apoptosis protein family member Survivin. + pmids: + - "36581205" + - text: Miz1 promotes KRAS-driven lung tumorigenesis by repressing the protocadherin Pcdh10. + pmids: + - "36538983" + - text: Extensive genomic analysis in patients with KRAS-mutated solid tumors shows high frequencies of concurrent alterations and potential targets but has limited clinical impact. + pmids: + - "36529989" + - text: "KRAS mutation status between left- and right-sided colorectal cancer: are there any differences in computed tomography?" + pmids: + - "35976561" + - text: CircIFNGR2 enhances proliferation and migration of CRC and induces cetuximab resistance by indirectly targeting KRAS via sponging to MiR-30b. + pmids: + - "36639711" + - text: Association between KRAS gene polymorphisms and genetic susceptibility to breast cancer in a Chinese population. + pmids: + - "36510353" + - text: Oncogenic KRAS signaling drives evasion of innate immune surveillance in lung adenocarcinoma by activating CD47. + pmids: + - "36413402" + - text: "RAS and BRAF genes as biomarkers and target for personalised colorectal cancer therapy: An update." + pmids: + - "36591710" + - text: "The relationships of OSBPL3 expression with KI-67 expression and KRAS mutations in CRC: implications for diagnosis and prognosis." + pmids: + - "36517805" + - text: Oncogenic KRAS alters splicing factor phosphorylation and alternative splicing in lung cancer. + pmids: + - "36522653" + - text: High frequency of KRAS and EGFR mutation profiles in BRAF-negative thyroid carcinomas in Indonesia. + pmids: + - "36510281" + - text: KRAS G12D mutation eliminates reactive oxygen species through the Nrf2/CSE/H 2S axis and contributes to pancreatic cancer growth. + pmids: + - "36514219" + - text: Prognostic and Predictive Impact of Primary Tumor Sidedness for Previously Untreated Advanced Colorectal Cancer. + pmids: + - "34061178" + - text: "Impact of a haplotype (composed of the APC, KRAS, and TP53 genes) on colorectal adenocarcinoma differentiation and patient prognosis." + pmids: + - "36288643" + - text: "Differential properties of KRAS transversion and transition mutations in non-small cell lung cancer: associations with environmental factors and clinical outcomes." + pmids: + - "36348317" + - text: The dynamicity of mutant KRAS beta2 strand modulates its downstream activation and predicts anticancer KRAS inhibition. + pmids: + - "36228769" + - text: "Energy balance-related factors in childhood and adolescence and risk of colorectal cancer based on KRAS, PIK3CA, and BRAF mutations and MMR status." + pmids: + - "36177801" + - text: "Correlations among KRAS Mutation, Microsatellite Instability, and 18F-FDG Uptake in Colon Cancer." + pmids: + - "36308376" + - text: Chemical acylation of an acquired serine suppresses oncogenic signaling of K-Ras(G12S). + pmids: + - "35864332" + - text: "KRAS alterations in colorectal liver metastases: shifting to exon, codon, and point mutations." + pmids: + - "35595182" + - text: Interplays of glucose metabolism and KRAS mutation in pancreatic ductal adenocarcinoma. + pmids: + - "36151074" + - text: "Both Kras gene mutation and Her2 gene mutation tend to exist in an inverse manner but not mutually exclusive in mucinous ovarian carcinoma: An analysis of 21 taiwanese women." + pmids: + - "35900578" + - text: "Dissecting the clinicopathologic, genomic, and immunophenotypic correlates of KRAS(G12D)-mutated non-small-cell lung cancer." + pmids: + - "35872166" + - text: The kinase PLK1 promotes the development of Kras/Tp53-mutant lung adenocarcinoma through transcriptional activation of the receptor RET. + pmids: + - "36194647" + - text: "Impact of anatomical liver resection on patient survival in KRAS-wild-type colorectal liver metastasis: A multicenter retrospective study." + pmids: + - "35965146" + - text: Colorectal cancer-derived exosomes and modulation KRAS signaling. + pmids: + - "35789981" + - text: "Adagrasib, a KRAS G12C inhibitor, reverses the multidrug resistance mediated by ABCB1 in vitro and in vivo." + pmids: + - "36104708" + - text: EHMT2 methyltransferase governs cell identity in the lung and is required for KRAS (G12D) tumor development and propagation. + pmids: + - "35983994" + - text: "KRAS variant allele frequency, but not mutation positivity, associates with survival of patients with pancreatic cancer." + pmids: + - "35567350" + - text: Markov State Models and Molecular Dynamics Simulations Reveal the Conformational Transition of the Intrinsically Disordered Hypervariable Region of K-Ras4B to the Ordered Conformation. + pmids: + - "35994329" + - text: KRAS-G12D mutation drives immune suppression and the primary resistance of anti-PD-1/PD-L1 immunotherapy in non-small cell lung cancer. + pmids: + - "35811500" + - text: "Moving Towards Dawn: KRas Signaling and Treatment in Pancreatic Ductal Adenocarcinoma." + pmids: + - "35088684" + - text: Correlation of miR-31 and miR-373 expression with KRAS mutations and its impact on prognosis in colorectal cancer. + pmids: + - "35989410" + - text: The Potency of a KRAS Silent Variant. + pmids: + - "35767444" + - text: "Effect of KRAS codon 12 or 13 mutations on survival with trifluridine/tipiracil in pretreated metastatic colorectal cancer: a meta-analysis." + pmids: + - "35688062" + - text: Recurrent KRAS mutations are early events in the development of papillary renal neoplasm with reverse polarity. + pmids: + - "35152262" + - text: Genomic and Clinical Analysis of Children with Acute Lymphoblastic Leukemia. + pmids: + - "36017149" + - text: Indoloquinoline-Mediated Targeted Downregulation of KRAS through Selective Stabilization of the Mid-Promoter G-Quadruplex Structure. + pmids: + - "36011352" + - text: "KRAS mutation in intrahepatic cholangiocarcinoma: Linkage with metastasis-free survival and reduced E-cadherin expression." + pmids: + - "35833881" + - text: Meta-analysis on prognostic value of KRAS mutation in resected mass-forming cholangiocarcinoma. + pmids: + - "35317947" + - text: "Joint effects of polycyclic aromatic hydrocarbons, smoking, and XPC polymorphisms on damage in exon 2 of KRAS gene among young coke oven workers." + pmids: + - "35991047" + - text: "A special subtype: Revealing the potential intervention and great value of KRAS wildtype pancreatic cancer." + pmids: + - "35732240" + - text: Functional and biological heterogeneity of KRAS(Q61) mutations. + pmids: + - "35944066" + - text: Engineered KRAS G12D-Reactive T Cells Show Promise in Pancreatic Cancer. + pmids: + - "35686834" + - text: "ctDNA: Moving toward Clinical Utility." + pmids: + - "35671334" + - text: Characterization of KRAS Mutational Regression in Oligometastatic Patients. + pmids: + - "35936004" + - text: Evaluation of the Role of the KRAS Gene Polymorphism LCS6 (rs61764370) in Iraqi Women with Ovarian Cancer. + pmids: + - "35891756" + - text: "KRAS Mutation: Characterization and Its Impact on Survival Outcome of Patients with Metastatic Colorectal Cancer." + pmids: + - "35866409" + - text: Mutant KRAS regulates transposable element RNA and innate immunity via KRAB zinc-finger genes. + pmids: + - "35858545" + - text: KRAS mutations as essential promoters of lymphangiogenesis via extracellular vesicles in pancreatic cancer. + pmids: + - "35838046" + - text: "Regulation of VEGFA, KRAS, and NFE2L2 Oncogenes by MicroRNAs in Head and Neck Cancer." + pmids: + - "35806488" + - text: KRAS mutant-driven SUMOylation controls extracellular vesicle transmission to trigger lymphangiogenesis in pancreatic cancer. + pmids: + - "35579947" + - text: KRAS mutation allele frequency threshold alters prognosis in right-sided resected pancreatic cancer. + pmids: + - "35333412" + - text: KRAS(G12R)-Independent Macropinocytosis in Pancreatic Cancer. + pmids: + - "35378710" + - text: KRAS(G12C)-independent feedback activation of wild-type RAS constrains KRAS(G12C) inhibitor efficacy. + pmids: + - "35732135" + - text: "Tumor profiling of KRAS, BRAF, and NRAS gene mutations in patients with colorectal cancer: A Lebanese major center cohort study." + pmids: + - "35680020" + - text: Mutation patterns and prognostic analysis of BRAF/KRAS/PIK3CA in colorectal cancer. + pmids: + - "35435290" + - text: BRAF V600E and previously unidentified KRAS G12C mutations in odontogenic tumors may affect MAPK activation differently depending on tumor type. + pmids: + - "35353428" + - text: PATTERN OF KRAS GENE EXPRESSION IN IRAQI WOMEN OVARIAN CARCINOMA. + pmids: + - "35633344" + - text: AIMP2-DX2 provides therapeutic interface to control KRAS-driven tumorigenesis. + pmids: + - "35546148" + - text: Mutant KRAS drives metabolic reprogramming and autophagic flux in premalignant pancreatic cells. + pmids: + - "33833413" + - text: Concomitant KRAS mutations attenuate sensitivity of non-small cell lung cancer cells to KRAS G12C inhibition. + pmids: + - "35177674" + - text: The Advance and Correlation of KRAS Mutation With the Fertility-Preservation Treatment of Endometrial Cancer in the Background of Molecular Classification Application. + pmids: + - "34975345" + - text: Differential expression analysis of genes and long non-coding RNAs associated with KRAS mutation in colorectal cancer cells. + pmids: + - "35562390" + - text: Structures of RGL1 RAS-Association Domain in Complex with KRAS and the Oncogenic G12V Mutant. + pmids: + - "35257782" + - text: "NMR (1)H, (13)C, (15)N backbone resonance assignments of the T35S and oncogenic T35S/Q61L mutants of human KRAS4b in the active, GppNHp-bound conformation." + pmids: + - "34686998" + - text: "(1) H, (15) N and (13) C resonance assignments of the Q61H mutant of human KRAS bound to GDP." + pmids: + - "34787842" + - text: The prognostic value of KRAS mutation in locally advanced rectal cancer. + pmids: + - "35484252" + - text: "Association of RAS/BRAF Status and Prognosis of Metastatic Colorectal Cancer: Analysis of 1002 Consecutive Cases." + pmids: + - "35301609" + - text: Effect of Co-mutation of RAS and TP53 on Postoperative ctDNA Detection and Early Recurrence after Hepatectomy for Colorectal Liver Metastases. + pmids: + - "35290266" + - text: The human AP-endonuclease 1 (APE1) is a DNA G-quadruplex structure binding protein and regulates KRAS expression in pancreatic ductal adenocarcinoma cells. + pmids: + - "35286386" + - text: Silent mutations reveal therapeutic vulnerability in RAS Q61 cancers. + pmids: + - "35236983" + - text: HIPK2 Cooperates with KRAS Signaling and Associates with Colorectal Cancer Progression. + pmids: + - "35082165" + - text: KRAS mutation in pancreatic cancer. + pmids: + - "33676749" + - text: Diminished Efficacy of Programmed Death-(Ligand)1 Inhibition in STK11- and KEAP1-Mutant Lung Adenocarcinoma Is Affected by KRAS Mutation Status. + pmids: + - "34740862" + - text: "Mutant KRAS as a prognostic biomarker after hepatectomy for rectal cancer metastases: Does the primary disease site matter?" + pmids: + - "34614304" + - text: Prevalence of KRAS p.(G12C) in stage IV NSCLC patients in the Netherlands; a nation-wide retrospective cohort study. + pmids: + - "35349855" + - text: "KRAS: A Druggable Target in Colon Cancer Patients." + pmids: + - "35456940" + - text: The Impact of KRAS Mutation in Patients With Sporadic Nonampullary Duodenal Epithelial Tumors. + pmids: + - "34797780" + - text: Same-Cell Co-Occurrence of RAS Hotspot and BRAF V600E Mutations in Treatment-Naive Colorectal Cancer. + pmids: + - "35235413" + - text: Activating KRAS and GNAS mutations in heterotopic submucosal glands of the stomach. + pmids: + - "35188590" + - text: Validation of a small molecule inhibitor of PDE6D-RAS interaction with favorable anti-leukemic effects. + pmids: + - "35422065" + - text: "Identification of Codon 146 KRAS Variants in Isolated Epidermal Nevus and Multiple Lesions in Oculoectodermal Syndrome: Confirmation of the Phenotypic Continuum of Mosaic RASopathies." + pmids: + - "35409398" + - text: "KRAS and BRAF Mutations in Stage II and III Colon Cancer: A Systematic Review and Meta-Analysis." + pmids: + - "34542636" + - text: KRAS Addiction Promotes Cancer Cell Adaptation in Harsh Microenvironment Through Macropinocytosis. + pmids: + - "35378709" + - text: Classification of KRAS-Activating Mutations and the Implications for Therapeutic Intervention. + pmids: + - "35373279" + - text: Sotorasib Tackles KRASG12C-Mutated Pancreatic Cancer. + pmids: + - "35373275" + - text: "Landscape of KRAS(G12C), Associated Genomic Alterations, and Interrelation With Immuno-Oncology Biomarkers in KRAS-Mutated Cancers." + pmids: + - "35319967" + - text: Targeting the ERK mitogen-activated protein kinase cascade for the treatment of KRAS-mutant pancreatic cancer. + pmids: + - "35101228" + - text: Leukotriene B4 receptor-2 contributes to KRAS-driven lung tumor formation by promoting interleukin-6-mediated inflammation. + pmids: + - "34635780" + - text: Targeted Transcriptome and KRAS Mutation Analysis Improve the Diagnostic Performance of EUS-FNA Biopsies in Pancreatic Cancer. + pmids: + - "34400416" + - text: KRAS Inhibitor Resistance in MET-Amplified KRAS (G12C) Non-Small Cell Lung Cancer Induced By RAS- and Non-RAS-Mediated Cell Signaling Mechanisms. + pmids: + - "34365406" + - text: Clinical and Functional Characterization of Atypical KRAS/NRAS Mutations in Metastatic Colorectal Cancer. + pmids: + - "34117033" + - text: Rapid idiosyncratic mechanisms of clinical resistance to KRAS G12C inhibition. + pmids: + - "34990404" + - text: Limited Prognostic Value of KRAS in Patients Undergoing Hepatectomy for Colorectal Liver Metastases. + pmids: + - "34851437" + - text: Metabonomics study of the effects of single copy mutant KRAS in the presence or absence of WT allele using human HCT116 isogenic cell lines. + pmids: + - "34822010" + - text: KRAS A146 Mutations Are Associated With Distinct Clinical Behavior in Patients With Colorectal Liver Metastases. + pmids: + - "34820593" + - text: Comprehensive Analysis of Somatic Mutations in Driver Genes of Resected Pancreatic Ductal Adenocarcinoma Reveals KRAS G12D and Mutant TP53 Combination as an Independent Predictor of Clinical Outcome. + pmids: + - "34792696" + - text: "Association between rs61764370, rs9266, and rs140080026 polymorphisms of the KRAS gene and breast cancer risk in a Mexican population." + pmids: + - "34787849" + - text: "KRAS mutation: from undruggable to druggable in cancer." + pmids: + - "34776511" + - text: "Frequency and Clinicopathological Characteristics of Patients With KRAS/BRAF Double-Mutant Colorectal Cancer: An In Silico Study." + pmids: + - "35280113" + - text: KRAS gene mutation quantification in the resection or venous margins of pancreatic ductal adenocarcinoma is not predictive of disease recurrence. + pmids: + - "35194118" + - text: Mutant GNAS limits tumor aggressiveness in established pancreatic cancer via antagonizing the KRAS-pathway. + pmids: + - "35018527" + - text: Uptake of KRAS Testing and Anti-EGFR Antibody Use for Colorectal Cancer in the VA. + pmids: + - "34250412" + - text: Comprehensive Clinical and Molecular Characterization of KRAS (G12C)-Mutant Colorectal Cancer. + pmids: + - "34250391" + - text: Identification of Targetable Gene Fusions and Structural Rearrangements to Foster Precision Medicine in KRAS Wild-Type Pancreatic Cancer. + pmids: + - "34250383" + - text: Mutant KRAS triggers functional reprogramming of tumor-associated macrophages in colorectal cancer. + pmids: + - "33833221" + - text: KRAS signaling in malignant pleural mesothelioma. + pmids: + - "34898002" + - text: "The impact of KRAS mutation, microsatellite instability, and tumor laterality on the prognosis of nonmetastatic colon cancer." + pmids: + - "34865865" + - text: Targeting KRAS Regulation with PolyPurine Reverse Hoogsteen Oligonucleotides. + pmids: + - "35216221" + - text: Neuropilin-1 is over-expressed in claudin-low breast cancer and promotes tumor progression through acquisition of stem cell characteristics and RAS/MAPK pathway activation. + pmids: + - "35078508" + - text: KRAS (G12C) Mutation Is Associated with Increased Risk of Recurrence in Surgically Resected Lung Adenocarcinoma. + pmids: + - "33593884" + - text: Clinical characteristics and prognostic value of the KRAS mutation in Chinese colorectal cancer patients. + pmids: + - "34044655" + - text: Association Between KRAS Variant Status and Outcomes With First-line Immune Checkpoint Inhibitor-Based Therapy in Patients With Advanced Non-Small-Cell Lung Cancer. + pmids: + - "33856403" + - text: "Impact of KRAS, BRAF and microsatellite instability status after cytoreductive surgery and HIPEC in a national cohort of colorectal peritoneal metastasis patients." + pmids: + - "34887523" + - text: Age-dependent prognostic value of KRAS mutation in metastatic colorectal cancer. + pmids: + - "34758634" + - text: Genetic characterisation of sarcomatoid carcinomas reveals multiple novel actionable mutations and identifies KRAS mutation as a biomarker of poor prognosis. + pmids: + - "33115932" + - text: "Transcriptomic Mapping of Non-Small Cell Lung Cancer K-RAS p.G12C Mutated Tumors: Identification of Surfaceome Targets and Immunologic Correlates." + pmids: + - "35178045" + - text: "Pancreatic tumor initiation: the potential role of IL-33." + pmids: + - "34023857" + - text: Prognostic Value of KRAS Mutation Subtypes and PD-L1 Expression in Patients With Lung Adenocarcinoma. + pmids: + - "32807653" + - text: "KRAS and MET in non-small-cell lung cancer: two of the new kids on the 'drivers' block." + pmids: + - "35098800" + - text: T7 Endonuclease I-mediated voltammetric detection of KRAS mutation coupled with horseradish peroxidase for signal amplification. + pmids: + - "35083578" + - text: Mutated RAS-associating proteins and ERK activation in relapse/refractory diffuse large B cell lymphoma. + pmids: + - "35039569" + - text: Targeting PGM3 as a Novel Therapeutic Strategy in KRAS/LKB1 Co-Mutant Lung Cancer. + pmids: + - "35011738" + - text: Epigenetic basis of oncogenic-Kras-mediated epithelial-cellular proliferation and plasticity. + pmids: + - "35134344" + - text: Regulation of EGFR signalling by palmitoylation and its role in tumorigenesis. + pmids: + - "34610265" + - text: KRAS mutation analysis by droplet digital PCR of duodenal juice from patients with MODY8 and other pancreatic diseases. + pmids: + - "34580018" + - text: Evaluation of circulating cell-free KRAS mutational status as a molecular monitoring tool in patients with pancreatic cancer. + pmids: + - "34511398" + - text: Somatic KRAS mutation affecting codon 146 in linear sebaceous nevus syndrome. + pmids: + - "34254724" + - text: Machine learning-driven multiscale modeling reveals lipid-dependent dynamics of RAS signaling proteins. + pmids: + - "34983849" + - text: CircCD44 plays oncogenic roles in triple-negative breast cancer by modulating the miR-502-5p/KRAS and IGF2BP2/Myc axes. + pmids: + - "34696797" + - text: Overcoming Adaptive Resistance to KRAS and MEK Inhibitors by Co-targeting mTORC1/2 Complexes in Pancreatic Cancer. + pmids: + - "33294856" + - text: "The improbable targeted therapy: KRAS as an emerging target in non-small cell lung cancer (NSCLC)." + pmids: + - "33521700" + - text: Structural insights into the BRAF monomer-to-dimer transition mediated by RAS binding. + pmids: + - "35078985" + - text: Sequence-Selective Covalent CaaX-Box Receptors Prevent Farnesylation of Oncogenic Ras Proteins and Impact MAPK/PI3 K Signaling. + pmids: + - "33899342" + - text: Endothelial k-RasV12 Expression Induces Capillary Deficiency Attributable to Marked Tube Network Expansion Coupled to Reduced Pericytes and Basement Membranes. + pmids: + - "34879709" + - text: Association of KRAS Variant Subtypes With Survival and Recurrence in Patients With Surgically Treated Intrahepatic Cholangiocarcinoma. + pmids: + - "34730772" + - text: "Associations of Polymorphisms Localized in the 3'UTR Regions of the KRAS, NRAS, MAPK1 Genes with Laryngeal Squamous Cell Carcinoma." + pmids: + - "34828284" + - text: Analysis of KRAS Mutation Status Prediction Model for Colorectal Cancer Based on Medical Imaging. + pmids: + - "34976107" + - text: A phospho-proteomic study of cetuximab resistance in KRAS/NRAS/BRAF(V600) wild-type colorectal cancer. + pmids: + - "34462871" + - text: Association between autophagy and KRAS mutation with clinicopathological variables in colorectal cancer patients. + pmids: + - "34448791" + - text: Role of the preoperative circulating tumor DNA KRAS mutation in patients with resectable pancreatic cancer. + pmids: + - "34120460" + - text: Mutant KRAS Downregulates the Receptor for Leukemia Inhibitory Factor (LIF) to Enhance a Signature of Glycolysis in Pancreatic Cancer and Lung Cancer. + pmids: + - "33931487" + - text: Mutational status of plasma exosomal KRAS predicts outcome in patients with metastatic colorectal cancer. + pmids: + - "34811396" + - text: Not All Kirsten Rat Sarcoma Viral Oncogene Homolog Mutations Predict Poor Survival in Patients With Unresectable Colorectal Liver Metastasis. + pmids: + - "34669528" + - text: Dietary Fat Intake and KRAS Mutations in Colorectal Cancer in a Moroccan Population. + pmids: + - "35057499" + - text: Targeting the ERbeta/HER Oncogenic Network in KRAS Mutant Lung Cancer Modulates the Tumor Microenvironment and Is Synergistic with Sequential Immunotherapy. + pmids: + - "35008514" + - text: Past and Future Strategies to Inhibit Membrane Localization of the KRAS Oncogene. + pmids: + - "34947990" + - text: D154Q Mutation does not Alter KRAS Dimerization. + pmids: + - "34896362" + - text: KRAS mutation identified in a patient with melorheostosis and extended lymphangiomatosis treated with sirolimus and trametinib. + pmids: + - "34190333" + - text: p27kip1 expression and phosphorylation dictate Palbociclib sensitivity in KRAS-mutated colorectal cancer. + pmids: + - "34654798" + - text: Topographic mapping of the glioblastoma proteome reveals a triple-axis model of intra-tumoral heterogeneity. + pmids: + - "35013227" + - text: High SHP2 expression determines the efficacy of PD-1/PD-L1 inhibitors in advanced KRAS mutant non-small cell lung cancer. + pmids: + - "34490728" + - text: Identification of mutant K-RAS in pituitary macroadenoma. + pmids: + - "33954928" + - text: The prognostic value of Kirsten rat sarcoma viral oncogene homolog mutations in resected lung adenocarcinoma differs according to clinical features. + pmids: + - "32739163" + - text: Promotion of cancer cell stemness by Ras. + pmids: + - "33544116" + - text: Prognostic value of absolute quantification of mutated KRAS in circulating tumour DNA in lung adenocarcinoma patients prior to therapy. + pmids: + - "33502820" + - text: "After decades, RAS mutation has finally become a therapeutic target." + pmids: + - "34657456" + - text: Mosaic RASopathy due to KRAS variant G12D with segmental overgrowth and associated peripheral vascular malformations. + pmids: + - "34114335" + - text: Novel findings and expansion of phenotype in a mosaic RASopathy caused by somatic KRAS variants. + pmids: + - "34056834" + - text: Selective targeting of KRAS-driven lung tumorigenesis via unresolved ER stress. + pmids: + - "33830081" + - text: MicroRNA-16 Restores Sensitivity to Tyrosine Kinase Inhibitors and Outperforms MEK Inhibitors in KRAS-Mutated Non-Small Cell Lung Cancer. + pmids: + - "34948154" + - text: Targeted Long-Read Sequencing Decodes the Transcriptional Atlas of the Founding RAS Gene Family Members. + pmids: + - "34948093" + - text: Development of a KRAS-Associated Metabolic Risk Model for Prognostic Prediction in Pancreatic Cancer. + pmids: + - "34660806" + - text: "High expression of LAMA3/AC245041.2 gene pair associated with KRAS mutation and poor survival in pancreatic adenocarcinoma: a comprehensive TCGA analysis." + pmids: + - "34134622" + - text: Plasma KRAS mutations predict the early recurrence after surgical resection of pancreatic cancer. + pmids: + - "34632919" + - text: Expression of Immuno-Oncologic Biomarkers Is Enriched in Colorectal Cancers and Other Solid Tumors Harboring the A59T Variant of KRAS. + pmids: + - "34063999" + - text: The function and mechanism of the miR-210-3p/KRAS axis in bone marrow-derived mesenchymal stem cell from patients with osteoporosis. + pmids: + - "33982450" + - text: Endoplasmic reticulum chaperone GRP78/BiP is critical for mutant Kras-driven lung tumorigenesis. + pmids: + - "33931739" + - text: Genomic and prognostic heterogeneity among RAS/BRAF(V600E) /TP53 co-mutated resectable colorectal liver metastases. + pmids: + - "33325154" + - text: Loss of the wild-type KRAS allele promotes pancreatic cancer progression through functional activation of YAP1. + pmids: + - "34663879" + - text: EGFR and KRAS Mutations in Lung Parenchyma of Subjects With EGFR/KRAS Wild-Type Lung Adenocarcinoma. + pmids: + - "34257550" + - text: Common and mutation specific phenotypes of KRAS and BRAF mutations in colorectal cancer cells revealed by integrative -omics analysis. + pmids: + - "34233735" + - text: PPP2R4 dysfunction promotes KRAS-mutant lung adenocarcinoma development and mediates opposite responses to MEK and mTOR inhibition. + pmids: + - "34216687" + - text: "KARATE: PKA-induced KRAS4B-RHOA-mTORC2 supercomplex phosphorylates AKT in insulin signaling and glucose homeostasis." + pmids: + - "34551282" + - text: Dual blockade of macropinocytosis and asparagine bioavailability shows synergistic anti-tumor effects on KRAS-mutant colorectal cancer. + pmids: + - "34543685" + - text: Dysregulated KRAS gene-signaling axis and abnormal chromatin remodeling drive therapeutic resistance in heterogeneous-sized circulating tumor cells in gastric cancer patients. + pmids: + - "34126192" + - text: KRAS-dependent cancer cells promote survival by producing exosomes enriched in Survivin. + pmids: + - "34111513" + - text: ANGPTL4 accelerates KRAS(G12D)-Induced acinar to ductal metaplasia and pancreatic carcinogenesis. + pmids: + - "34311032" + - text: KRAS phosphorylation regulates cell polarization and tumorigenic properties in colorectal cancer. + pmids: + - "34333552" + - text: Regulation of KRAS protein expression by miR-544a and KRAS-LCS6 polymorphism in wild-type KRAS sporadic colon adenocarcinoma. + pmids: + - "34235620" + - text: Malfeasance of KRAS mutations in carcinogenesis. + pmids: + - "33709341" + - text: Oncogenic KRAS drives radioresistance through upregulation of NRF2-53BP1-mediated non-homologous end-joining repair. + pmids: + - "34606602" + - text: Prognostic Value of KRAS Gene Mutation on Survival of Patients with Peritoneal Metastases of Colorectal Adenocarcinoma. + pmids: + - "34557315" + - text: Oncogenic KRAS creates an aspartate metabolism signature in colorectal cancer cells. + pmids: + - "34227245" + - text: Antipsychotic phenothiazine drugs bind to KRAS in vitro. + pmids: + - "34176062" + - text: Association analysis of miRNA-related genetic polymorphisms in miR-143/145 and KRAS with colorectal cancer susceptibility and survival. + pmids: + - "33825830" + - text: Luteolin and its derivative apigenin suppress the inducible PD-L1 expression to improve anti-tumor immunity in KRAS-mutant lung cancer. + pmids: + - "34052328" + - text: Clinicopathological characteristics and mutational profile of KRAS and NRAS in Tunisian patients with sporadic colorectal cancer + pmids: + - "32892548" + - text: The Q61H mutation decouples KRAS from upstream regulation and renders cancer cells resistant to SHP2 inhibitors. + pmids: + - "34725361" + - text: Searching for treatments for non-G12C-KRAS mutant cancers. + pmids: + - "33859342" + - text: Small-Molecule Inhibitors and Degraders Targeting KRAS-Driven Cancers. + pmids: + - "34830024" + - text: The KRAS-regulated kinome identifies WEE1 and ERK coinhibition as a potential therapeutic strategy in KRAS-mutant pancreatic cancer. + pmids: + - "34688654" + - text: RAS interaction with Sin1 is dispensable for mTORC2 assembly and activity. + pmids: + - "34380736" + - text: FAK-targeting PROTAC demonstrates enhanced antitumor activity against KRAS mutant non-small cell lung cancer. + pmids: + - "34648846" + - text: "Circulating tumour cells and cell-free DNA as a prognostic factor in metastatic colorectal cancer: the OMITERC prospective study." + pmids: + - "33953347" + - text: Impact of KRAS mutation status on the efficacy of immunotherapy in lung cancer brain metastases. + pmids: + - "34518623" + - text: Discovery of a novel and a rare Kristen rat sarcoma viral oncogene homolog (KRAS) gene mutation in colorectal cancer patients. + pmids: + - "34369256" + - text: ZC3HAV1 promotes the proliferation and metastasis via regulating KRAS in pancreatic cancer. + pmids: + - "34319912" + - text: EndoBind detects endogenous protein-protein interactions in real time. + pmids: + - "34526658" + - text: "Expression profiles of miR-196, miR-132, miR-146a, and miR-134 in human colorectal cancer tissues in accordance with their clinical significance : Comparison regarding KRAS mutation." + pmids: + - "34463887" + - text: Oncogenic KRAS engages an RSK1/NF1 pathway to inhibit wild-type RAS signaling in pancreatic cancer. + pmids: + - "34021083" + - text: A structural model of a Ras-Raf signalosome. + pmids: + - "34625747" + - text: Irinotecan and vandetanib create synergies for treatment of pancreatic cancer patients with concomitant TP53 and KRAS mutations. + pmids: + - "32743640" + - text: The Genomic Landscape of SMARCA4 Alterations and Associations with Outcomes in Patients with Lung Cancer. + pmids: + - "32709715" + - text: "SMARCA4 mutations in KRAS-mutant lung adenocarcinoma: a multi-cohort analysis." + pmids: + - "33107184" + - text: Epithelial-to-Mesenchymal Transition is a Cause of Both Intrinsic and Acquired Resistance to KRAS G12C Inhibitor in KRAS G12C-Mutant Non-Small Cell Lung Cancer. + pmids: + - "32900796" + - text: Adenoid ameloblastoma with dentinoid is molecularly different from ameloblastomas and adenomatoid odontogenic tumors. + pmids: + - "34549835" + - text: "PD-L1 expression, EGFR and KRAS mutations and survival among stage III unresected non-small cell lung cancer patients: a Danish cohort study." + pmids: + - "34413420" + - text: Predictive value of KRAS mutation and excision repair cross-complementing 1 (ERCC1) protein overexpression in patients with colorectal cancer administered FOLFOX regimen. + pmids: + - "33468383" + - text: KRAS G12V mutation upregulates PD-L1 expression via TGF-beta/EMT signaling pathway in human non-small-cell lung cancer. + pmids: + - "33325140" + - text: Dynamic Regulation of Expression of KRAS and Its Effectors Determines the Ability to Initiate Tumorigenesis in Pancreatic Acinar Cells. + pmids: + - "33602788" + - text: Targeting the DNA replication stress phenotype of KRAS mutant cancer cells. + pmids: + - "33574444" + - text: "Recurrent KRAS, KIT and SF3B1 mutations in melanoma of the female genital tract." + pmids: + - "34102999" + - text: Calmodulin disrupts plasma membrane localization of farnesylated KRAS4b by sequestering its lipid moiety. + pmids: + - "32234958" + - text: "Complete Screening of Exons 2, 3, and 4 of KRAS and NRAS Genes Reveals a Higher Number of Clinically Relevant Mutations than Food and Drug Administration Quantitative Polymerase Chain Reaction-Based Commercial Kits." + pmids: + - "33053566" + - text: Blocking EGFR palmitoylation suppresses PI3K signaling and mutant KRAS lung tumorigenesis. + pmids: + - "32127496" + - text: Evaluation of KRAS Concomitant Mutations in Advanced Lung Adenocarcinoma Patients. + pmids: + - "34684076" + - text: Highlights on the Role of KRAS Mutations in Reshaping the Microenvironment of Pancreatic Adenocarcinoma. + pmids: + - "34638560" + - text: YTHDF1 Promotes Cyclin B1 Translation through m(6)A Modulation and Contributes to the Poor Prognosis of Lung Adenocarcinoma with KRAS/TP53 Co-Mutation. + pmids: + - "34359836" + - text: The Interleukin 22 Pathway Interacts with Mutant KRAS to Promote Poor Prognosis in Colon Cancer. + pmids: + - "32430479" + - text: "The Prognostic Impact of KRAS G12C Mutation in Patients with Metastatic Colorectal Cancer: A Multicenter Retrospective Observational Study." + pmids: + - "34232546" + - text: True conversions from RAS mutant to RAS wild-type in circulating tumor DNA from metastatic colorectal cancer patients as assessed by methylation and mutational signature. + pmids: + - "33744389" + - text: Analysis of KRAS mutations in circulating tumor DNA and colorectal cancer tissue. + pmids: + - "32876508" + - text: "Reevaluating the prognostic value of RAS mutation status in patients with resected liver metastases from colorectal cancer: A systematic review and meta-analysis." + pmids: + - "34115442" + - text: Suppression of m6A mRNA modification by DNA hypermethylated ALKBH5 aggravates the oncological behavior of KRAS mutation/LKB1 loss lung cancer. + pmids: + - "34016959" + - text: The G protein signaling regulator RGS3 enhances the GTPase activity of KRAS. + pmids: + - "34618566" + - text: Differential substrate use in EGF- and oncogenic KRAS-stimulated human mammary epithelial cells. + pmids: + - "33811729" + - text: "Mutation status and prognostic value of KRAS and NRAS mutations in Moroccan colon cancer patients: A first report." + pmids: + - "33784337" + - text: Diffusion-based determination of protein homodimerization on reconstituted membrane surfaces. + pmids: + - "33408000" + - text: Comprehensive genomic profiling reveals ubiquitous KRAS mutations and frequent PIK3CA mutations in ovarian seromucinous borderline tumor. + pmids: + - "32616873" + - text: Oncogenic KRAS is dependent upon an EFR3A-PI4KA signaling axis for potent tumorigenic activity. + pmids: + - "34504076" + - text: KRAS expression is a prognostic indicator and associated with immune infiltration in breast cancer. + pmids: + - "33067762" + - text: RAF1 kinase activity is dispensable for KRAS/p53 mutant lung tumor progression. + pmids: + - "33513349" + - text: Oncogenic mutation or overexpression of oncogenic KRAS or BRAF is not sufficient to confer oncogene addiction. + pmids: + - "33793658" + - text: Eicosapentaenoic Acid Inhibits KRAS Mutant Pancreatic Cancer Cell Growth by Suppressing Hepassocin Expression and STAT3 Phosphorylation. + pmids: + - "33801246" + - text: Loss of Jag1 cooperates with oncogenic Kras to induce pancreatic cystic neoplasms. + pmids: + - "33268505" + - text: Virtual Fluorescence Color Channels by Selective Photobleaching in Digital PCR Applied to the Quantification of KRAS Point Mutations. + pmids: + - "34279918" + - text: Clinicopathological factors associated with tumour-specific mutation detection in plasma of patients with RAS-mutated or BRAF-mutated metastatic colorectal cancer. + pmids: + - "33961700" + - text: "Mutation Status and Prognostic Value of KRAS and BRAF in Southeast Iranian Colorectal Cancer Patients: First Report from Southeast of Iran." + pmids: + - "32495109" + - text: "KRAS G12C Metastatic Colorectal Cancer: Specific Features of a New Emerging Target Population." + pmids: + - "32605718" + - text: BCL6 confers KRAS-mutant non-small-cell lung cancer resistance to BET inhibitors. + pmids: + - "33393503" + - text: ZNF768 links oncogenic RAS to cellular senescence. + pmids: + - "34404770" + - text: Discoveries in the redox regulation of KRAS. + pmids: + - "33309959" + - text: Clinical significance of HRAS and KRAS genes expression in patients with non-small-cell lung cancer - preliminary findings. + pmids: + - "33549031" + - text: Autophagy-dependent ferroptosis drives tumor-associated macrophage polarization via release and uptake of oncogenic KRAS protein. + pmids: + - "31920150" + - text: Impact of K-Ras Over-expression in Laryngeal Squamous Cell Carcinoma. + pmids: + - "33910843" + - text: Oncogenic KRAS-Driven Metabolic Reprogramming in Pancreatic Cancer Cells Utilizes Cytokines from the Tumor Microenvironment. + pmids: + - "32046984" + - text: "Prognostic Impact of KRAS G12C Mutation in Patients With NSCLC: Results From the European Thoracic Oncology Platform Lungscape Project." + pmids: + - "33647504" + - text: Identification of Radil as a Ras binding partner and putative activator. + pmids: + - "33482197" + - text: Preoperative detection of KRAS mutated circulating tumor DNA is an independent risk factor for recurrence in colorectal cancer. + pmids: + - "33432066" + - text: The integrated stress response is tumorigenic and constitutes a therapeutic liability in KRAS-driven lung cancer. + pmids: + - "34330898" + - text: Arteriovenous malformation phenotype resembling congenital hemangioma contains KRAS mutations. + pmids: + - "32799314" + - text: Discernment between candidate mechanisms for KRAS G13D colorectal cancer sensitivity to EGFR inhibitors. + pmids: + - "33153459" + - text: Oncogenic mutant RAS signaling activity is rescaled by the ERK/MAPK pathway. + pmids: + - "33073539" + - text: Syndecan-1 and KRAS Gene Expression Signature Associates With Patient Survival in Pancreatic Cancer. + pmids: + - "32898003" + - text: AMPK activation overcomes anti-EGFR antibody resistance induced by KRAS mutation in colorectal cancer. + pmids: + - "32703218" + - text: "The Prognostic Impact of Primary Tumor Site Differs According to the KRAS Mutational Status: A Study By the International Genetic Consortium for Colorectal Liver Metastasis." + pmids: + - "31389831" + - text: Biochemical and functional characterization of mutant KRAS epitopes validates this oncoprotein for immunological targeting. + pmids: + - "34272369" + - text: Real world outcomes in KRAS G12C mutation positive non-small cell lung cancer. + pmids: + - "32619782" + - text: Frequency of KRAS p.Gly12Cys Mutation in Brazilian Patients With Lung Cancer. + pmids: + - "33956502" + - text: PRMT1 enhances oncogenic arginine methylation of NONO in colorectal cancer. + pmids: + - "33420374" + - text: LINC00514 promotes gastric cancer cell growth and EMT progression via miR-204-3p/KRAS. + pmids: + - "33888645" + - text: KRAS mutations are negatively correlated with immunity in colon cancer. + pmids: + - "33254149" + - text: KRAS G12D mutation predicts lower TMB and drives immune suppression in lung adenocarcinoma. + pmids: + - "32956987" + - text: Targeting KRAS4A splicing through the RBM39/DCAF15 pathway inhibits cancer stem cells. + pmids: + - "34257283" + - text: Cell-permeable CaaX-peptides affect K-Ras downstream signaling and promote cell death in cancer cells. + pmids: + - "33112492" + - text: Detection of Somatic Mutations with ddPCR from Liquid Biopsy of Colorectal Cancer Patients. + pmids: + - "33669856" + - text: "Analysis of EGFR, KRAS, and PIK3CA gene mutation rates and clinical distribution in patients with different types of lung cancer." + pmids: + - "34217313" + - text: A novel prenyl-polybasic domain code determines lipid-binding specificity of the K-Ras membrane anchor. + pmids: + - "29239694" + - text: Oncogenic tuftelin 1 as a potential molecular-targeted for inhibiting hepatocellular carcinoma growth. + pmids: + - "34163115" + - text: RAS ubiquitylation modulates effector interactions. + pmids: + - "29185849" + - text: "Clinical Effect of Driver Mutations of KRAS, CDKN2A/P16, TP53, and SMAD4 in Pancreatic Cancer: A Meta-Analysis." + pmids: + - "33347393" + - text: Prognostic impact of KRAS mutation status for patients with stage IV adenocarcinoma of the lung treated with first-line pembrolizumab monotherapy. + pmids: + - "33838467" + - text: Acquired Resistance to KRAS(G12C) Inhibition in Cancer. + pmids: + - "34161704" + - text: Detecting mosaic variants in patients with somatic overgrowth syndromes using cell-free circulating DNA and deep sequencing. + pmids: + - "31992579" + - text: Recurrent KRAS mutations in papillary renal neoplasm with reverse polarity. + pmids: + - "31534204" + - text: KRAS mutation and abnormal expression of Cripto-1 as two potential candidate biomarkers for detection of colorectal cancer development. + pmids: + - "31692030" + - text: Association of Rs61764370 polymorphism within let-7 microRNA-binding site with lung cancer in Iranian population. + pmids: + - "33402978" + - text: MiR-16 inhibits proliferation of cervical cancer cells by regulating KRAS. + pmids: + - "33155198" + - text: Frequent KRAS and HRAS mutations in squamous cell papillomas of the head and neck. + pmids: + - "31960612" + - text: Atypical Mesonephric Hyperplasia of the Uterus Harbors Pathogenic Mutation of Kirsten Rat Sarcoma 2 Viral Oncogene Homolog (KRAS) and Gain of Chromosome 1q. + pmids: + - "33099482" + - text: Quantifying single-cell ERK dynamics in colorectal cancer organoids reveals EGFR as an amplifier of oncogenic MAPK pathway signalling. + pmids: + - "33795873" + - text: Noninvasive KRAS mutation estimation in colorectal cancer using a deep learning method based on CT imaging. + pmids: + - "32487083" + - text: Oncogenic Ras Disrupts Epithelial Integrity by Activating the Transmembrane Serine Protease Hepsin. + pmids: + - "33461973" + - text: Voltage-gated sodium channel Nav1.5 promotes tumor progression and enhances chemosensitivity to 5-fluorouracil in colorectal cancer. + pmids: + - "33338532" + - text: Melatonin Downregulates PD-L1 Expression and Modulates Tumor Immunity in KRAS-Mutant Non-Small Cell Lung Cancer. + pmids: + - "34073318" + - text: KRAS and EGFR Mutations Differentially Alter ABC Drug Transporter Expression in Cisplatin-Resistant Non-Small Cell Lung Cancer. + pmids: + - "34065402" + - text: Normal Mode Analysis of KRas4B Reveals Partner Specific Dynamics. + pmids: + - "33978412" + - text: Mild Oxidative Stress Reduces NRF2 SUMOylation to Promote Kras/Lkb1/Keap1 Mutant Lung Adenocarcinoma Cell Migration and Invasion. + pmids: + - "33299528" + - text: "Comparison of Biocartis IDYLLA cartridge assay with Qiagen GeneReader NGS for detection of targetable mutations in EGFR, KRAS/NRAS, and BRAF genes." + pmids: + - "33773991" + - text: KRAS(G12C) Can Either Promote or Impair Cap-Dependent Translation in Two Different Lung Adenocarcinoma Cell Lines. + pmids: + - "33672357" + - text: Dysregulated Kras/YY1/ZNF322A/Shh transcriptional axis enhances neo-angiogenesis to promote lung cancer progression. + pmids: + - "32929330" + - text: A somatic activating KRAS variant identified in an affected lesion of a patient with Gorham-Stout disease. + pmids: + - "32591603" + - text: Somatic Gain of KRAS Function in the Endothelium Is Sufficient to Cause Vascular Malformations That Require MEK but Not PI3K Signaling. + pmids: + - "32552404" + - text: Promoter hypomethylation as potential confounder of Ras gene overexpression and their clinical significance in subsets of urothelial carcinoma of bladder. + pmids: + - "33620658" + - text: Mutation-Specific and Common Phosphotyrosine Signatures of KRAS G12D and G13D Alleles. + pmids: + - "32986951" + - text: "The role of circulating tumor cells and K-ras mutations in patients with locally advanced rectal cancer: a prospective study." + pmids: + - "33174084" + - text: "RALB GTPase: a critical regulator of DR5 expression and TRAIL sensitivity in KRAS mutant colorectal cancer." + pmids: + - "33122623" + - text: "Integrin-linked kinase (ILK) regulates KRAS, IPP complex and Ras suppressor-1 (RSU1) promoting lung adenocarcinoma progression and poor survival." + pmids: + - "32592097" + - text: Alterations in driver genes are predictive of survival in patients with resected pancreatic ductal adenocarcinoma. + pmids: + - "32573775" + - text: Association between C-myc and K-ras gene polymorphisms and non-Hodgkin lymphoma. + pmids: + - "32373977" + - text: Tectal glioma harbors high rates of KRAS G12R and concomitant KRAS and BRAF alterations. + pmids: + - "31822998" + - text: Combinative treatment of beta-elemene and cetuximab is sensitive to KRAS mutant colorectal cancer cells by inducing ferroptosis and inhibiting epithelial-mesenchymal transformation. + pmids: + - "32308771" + - text: Differential effects of KRAS mutational status on long-term survival according to the timing of colorectal liver metastases. + pmids: + - "33858364" + - text: Biological significance of KRAS mutant allele expression in ovarian endometriosis. + pmids: + - "33675098" + - text: Molecular profile of KRAS G12C-mutant colorectal and non-small-cell lung cancer. + pmids: + - "33632153" + - text: "KRAS mutation as a prognostic factor and predictive factor in advanced/metastatic non-small cell lung cancer: A systematic literature review and meta-analysis." + pmids: + - "32750661" + - text: KRAS Mutation-Responsive miR-139-5p inhibits Colorectal Cancer Progression and is repressed by Wnt Signaling. + pmids: + - "32641995" + - text: RAS and TP53 can predict survival in adults with T-cell lymphoblastic leukemia treated with hyper-CVAD. + pmids: + - "31804006" + - text: "Prevalence of RAS and BRAF mutations in metastatic colorectal cancer patients by tumor sidedness: A systematic review and meta-analysis." + pmids: + - "31856410" + - text: The mutational landscape of melanoma brain metastases presenting as the first visceral site of recurrence. + pmids: + - "33024263" + - text: A KRAS-responsive long non-coding RNA controls microRNA processing. + pmids: + - "33795683" + - text: Kras mutation correlating with circulating regulatory T cells predicts the prognosis of advanced pancreatic cancer patients. + pmids: + - "32017404" + - text: "The Impact of KRAS Mutation on the Presentation and Prognosis of Non-Metastatic Colon Cancer: an Analysis from the National Cancer Database." + pmids: + - "32128676" + - text: Membrane interactions of the globular domain and the hypervariable region of KRAS4b define its unique diffusion behavior. + pmids: + - "31958057" + - text: Functional dissection of the KRAS G12C mutation by comparison among multiple oncogenic driver mutations in a lung cancer cell line model. + pmids: + - "33302159" + - text: Plasma clearance of RAS mutation under therapeutic pressure is a rare event in metastatic colorectal cancer. + pmids: + - "31472013" + - text: Pulmonary Inflammation and KRAS Mutation in Lung Cancer. + pmids: + - "33788188" + - text: The origins and genetic interactions of KRAS mutations are allele- and tissue-specific. + pmids: + - "33753749" + - text: "KRAS Promoter G-Quadruplexes from Sequences of Different Length: A Physicochemical Study." + pmids: + - "33466280" + - text: Frequent KRAS mutations in oncocytic papillary renal neoplasm with inverted nuclei. + pmids: + - "31997427" + - text: "A PCR-Based Approach for Driver Mutation Analysis of EGFR, KRAS, and BRAF Genes in Lung Cancer Tissue Sections." + pmids: + - "33683689" + - text: Circulating tumour-derived KRAS mutations in pancreatic cancer cases are predominantly carried by very short fragments of cell-free DNA. + pmids: + - "32249202" + - text: "Targeting KRAS-Mutant Non-Small-Cell Lung Cancer: One Mutation at a Time, With a Focus on KRAS G12C Mutations." + pmids: + - "33104438" + - text: Reduced replication origin licensing selectively kills KRAS-mutant colorectal cancer cells via mitotic catastrophe. + pmids: + - "32612138" + - text: KRAS drives immune evasion in a genetic model of pancreatic cancer. + pmids: + - "33674596" + - text: Clinical features and KRAS mutation in colorectal cancer with bone metastasis. + pmids: + - "33273596" + - text: Metabolic regulation of EGFR effector and feedback signaling in pancreatic cancer cells requires K-Ras. + pmids: + - "32972751" + - text: "KRAS gene silencing inhibits the activation of PI3K-Akt-mTOR signaling pathway to regulate breast cancer cell epithelial-mesenchymal transition, proliferation and apoptosis." + pmids: + - "32271426" + - text: KRAS interaction with RAF1 RAS-binding domain and cysteine-rich domain provides insights into RAS-mediated RAF activation. + pmids: + - "33608534" + - text: "The interplay of KRAS mutational status with tumor laterality in non-metastatic colorectal cancer: An international, multi-institutional study in patients with known KRAS, BRAF, and MSI status." + pmids: + - "33368279" + - text: Ubiquitin-binding associated protein 2 regulates KRAS activation and macropinocytosis in pancreatic cancer. + pmids: + - "32692445" + - text: Altered RNA Splicing by Mutant p53 Activates Oncogenic RAS Signaling in Pancreatic Cancer. + pmids: + - "32559497" + - text: Neuron type-specific expression of a mutant KRAS impairs hippocampal-dependent learning and memory. + pmids: + - "33082413" + - text: KRAS K104 modification affects the KRAS(G12D)-GEF interaction and mediates cell growth and motility. + pmids: + - "33060649" + - text: KRAS mutations in uterine endometrium are associated with gravidity and parity. + pmids: + - "32393751" + - text: Radioresistance of KRAS/TP53-mutated lung cancer can be overcome by radiation dose escalation or EGFR tyrosine kinase inhibition in vivo. + pmids: + - "31359406" + - text: SREBP1 regulates mitochondrial metabolism in oncogenic KRAS expressing NSCLC. + pmids: + - "32568455" + - text: ZEB1 and oncogenic Ras constitute a regulatory switch for stimulus-dependent E-cadherin downregulation. + pmids: + - "33068045" + - text: "Beyond the Genomic Mutation: Rethinking the Molecular Biomarkers of K-RAS Dependency in Pancreatic Cancers." + pmids: + - "32708716" + - text: Amplification of KRAS and its heterogeneity in non-Asian gastric adenocarcinomas. + pmids: + - "32571252" + - text: "Role of Poly [ADP-ribose] Polymerase 1 in Activating the Kirsten ras (KRAS) Gene in Response to Oxidative Stress." + pmids: + - "32872305" + - text: Anti-Metastatic Activity of an Anti-EGFR Monoclonal Antibody against Metastatic Colorectal Cancer with KRAS p.G13D Mutation. + pmids: + - "32839411" + - text: Early KRAS oncogenic driver mutations in nonmucinous tissue of congenital pulmonary airway malformations as an indicator of potential malignant behavior. + pmids: + - "32681943" + - text: "Outcome of patients with colorectal cancer undergoing lung metastases resection: a single-institution retrospective analysis." + pmids: + - "32597321" + - text: Active Compound of Pharbitis Semen (Pharbitis nil Seeds) Suppressed KRAS-Driven Colorectal Cancer and Restored Muscle Cell Function during Cancer Progression. + pmids: + - "32580297" + - text: Early assessment of KRAS mutation in cfDNA correlates with risk of progression and death in advanced non-small-cell lung cancer. + pmids: + - "32376889" + - text: Does KRAS mutation status impact the risk of local recurrence after R1 vascular resection for colorectal liver metastasis? An observational cohort study. + pmids: + - "31839435" + - text: "Impact of KRAS mutation status on outcomes of metastatic colorectal cancer treated with anti-angiogenic agents: a meta-analysis." + pmids: + - "31838964" + - text: "IKKbeta Kinase Promotes Stemness, Migration, and Invasion in KRAS-Driven Lung Adenocarcinoma Cells." + pmids: + - "32823550" + - text: "Impact of RAS mutations on the immune infiltrate of colorectal liver metastases: A preliminary study." + pmids: + - "32108374" + - text: Atypical KRAS(G12R) Mutant Is Impaired in PI3K Signaling and Macropinocytosis in Pancreatic Cancer. + pmids: + - "31649109" + - text: TPL2 enforces RAS-induced inflammatory signaling and is activated by point mutations. + pmids: + - "32573499" + - text: "Metabolic characterization of colorectal cancer cells harbouring different KRAS mutations in codon 12, 13, 61 and 146 using human SW48 isogenic cell lines." + pmids: + - "32300895" + - text: "Associations between nutritional factors and KRAS mutations in colorectal cancer: a systematic review." + pmids: + - "32723394" + - text: "Colorectal carcinomas with mucinous differentiation are associated with high frequent mutation of KRAS or BRAF mutations, irrespective of quantity of mucinous component." + pmids: + - "32384877" + - text: Genetic Changes of P(53) and Kras in Gallbladder Carcinoma in Kumaon Region of Uttarakhand. + pmids: + - "31396884" + - text: Scaffold association factor B (SAFB) is required for expression of prenyltransferases and RAS membrane association. + pmids: + - "33257571" + - text: PLCgamma1 suppression promotes the adaptation of KRAS-mutant lung adenocarcinomas to hypoxia. + pmids: + - "33077911" + - text: KRAS mutations by digital PCR in circulating tumor cells isolated from the mesenteric vein are associated with residual disease and overall survival in resected colorectal cancer patients. + pmids: + - "32088737" + - text: Recurrent KRAS mutations identified in papillary renal neoplasm with reverse polarity-a comparative study with papillary renal cell carcinoma. + pmids: + - "31953522" + - text: PAWI-2 overcomes tumor stemness and drug resistance via cell cycle arrest in integrin beta3-KRAS-dependent pancreatic cancer stem cells. + pmids: + - "32514015" + - text: The prevalence and prognostic value of KRAS co-mutation subtypes in Chinese advanced non-small cell lung cancer patients. + pmids: + - "31709742" + - text: RAS/RAF mutations and their associations with epigenetic alterations for distinct pathways in Vietnamese colorectal cancer. + pmids: + - "32089414" + - text: "KRAS and BRAF Mutations as Prognostic and Predictive Biomarkers for Standard Chemotherapy Response in Metastatic Colorectal Cancer: A Single Institutional Study." + pmids: + - "31952366" + - text: KRAS SNPs are related to colorectal cancer susceptibility and survival in Chinese people. + pmids: + - "31729889" + - text: KRAS(Q61H) Preferentially Signals through MAPK in a RAF Dimer-Dependent Manner in Non-Small Cell Lung Cancer. + pmids: + - "32605999" + - text: Genome-wide DNA methylation analysis of KRAS mutant cell lines. + pmids: + - "32576853" + - text: Isoprenylcysteine carboxylmethyltransferase is required for the impact of mutant KRAS on TAZ protein level and cancer cell self-renewal. + pmids: + - "32561852" + - text: RAS internal tandem duplication disrupts GTPase-activating protein (GAP) binding to activate oncogenic signaling. + pmids: + - "32393580" + - text: The hexosamine biosynthesis pathway is a targetable liability in KRAS/LKB1 mutant lung cancer. + pmids: + - "33257855" + - text: "Detection of KRAS mutations in liquid biopsies from metastatic colorectal cancer patients using droplet digital PCR, Idylla, and next generation sequencing." + pmids: + - "33237900" + - text: KRAS-regulated glutamine metabolism requires UCP2-mediated aspartate transport to support pancreatic cancer growth. + pmids: + - "33230296" + - text: Coaltered Ras/B-raf and TP53 Is Associated with Extremes of Survivorship and Distinct Patterns of Metastasis in Patients with Metastatic Colorectal Cancer. + pmids: + - "31719050" + - text: Cardiofaciocutaneous syndrome with KRAS gene mutation presenting as chylopericardium. + pmids: + - "31926049" + - text: IMPACT OF KRAS MUTATIONS IN CLINICAL FEATURES IN COLORECTAL CANCER. + pmids: + - "33331426" + - text: Aurora A kinase and its activator TPX2 are potential therapeutic targets in KRAS-induced pancreatic cancer. + pmids: + - "32193808" + - text: Suppression of the SLC7A11/glutathione axis causes synthetic lethality in KRAS-mutant lung adenocarcinoma. + pmids: + - "31874110" + - text: The Mir181ab1 cluster promotes KRAS-driven oncogenesis and progression in lung and pancreas. + pmids: + - "31874105" + - text: Docosahexaenoic acid inhibits the proliferation of Kras/TP53 double mutant pancreatic ductal adenocarcinoma cells through modulation of glutathione level and suppression of nucleotide synthesis. + pmids: + - "33137095" + - text: The cytochrome P450 enzyme CYP24A1 increases proliferation of mutant KRAS-dependent lung adenocarcinoma independent of its catalytic activity. + pmids: + - "32165494" + - text: KRAS mutations in brown tumor of the jaws in hyperparathyroidism. + pmids: + - "32492752" + - text: KRAS Mutation Predicted More Mirometastases and Closer Resection Margins in Patients with Colorectal Cancer Liver Metastases. + pmids: + - "31720935" + - text: Cytology-based Detection of Circulating Tumour Cells in Human Pancreatic Cancer Xenograft Models With KRAS Mutation. + pmids: + - "33288571" + - text: "Influence of KRAS mutations, persistent organic pollutants, and trace elements on survival from pancreatic ductal adenocarcinoma." + pmids: + - "32791343" + - text: DRP1 promotes lactate utilization in KRAS-mutant non-small-cell lung cancer cells. + pmids: + - "32767829" + - text: KRAS mutation status concordance between the primary tumor and the corresponding metastasis in patients with rectal cancer. + pmids: + - "33002027" + - text: Preoperative prediction of perineural invasion and KRAS mutation in colon cancer using machine learning. + pmids: + - "32779023" + - text: Differential Expression of KRAS and SIRT1 in Ovarian Cancers with and Without Endometriosis. + pmids: + - "32046380" + - text: Mortalin/HSPA9 targeting selectively induces KRAS tumor cell death by perturbing mitochondrial membrane permeability. + pmids: + - "32291414" + - text: "Loss of heterozygosity for Kras(G12D) promotes REDD1-dependent, non-canonical glutamine metabolism in pancreatic ductal adenocarcinoma." + pmids: + - "32279996" + - text: The proprotein convertase furin is a pro-oncogenic driver in KRAS and BRAF driven colorectal cancer. + pmids: + - "32139876" + - text: Cell-type specific tumorigenesis with Ras oncogenes in human lung epithelial cells. + pmids: + - "32111352" + - text: "HPV mediated carcinogenesis: the role of k-ras mutations." + pmids: + - "32277691" + - text: Actionable Mutation Profiles of Non-Small Cell Lung Cancer patients from Vietnamese population. + pmids: + - "32066856" + - text: Uncovering a membrane-distal conformation of KRAS available to recruit RAF to the plasma membrane. + pmids: + - "32913056" + - text: Analysis of circulating cell-free DNA identifies KRAS copy number gain and mutation as a novel prognostic marker in Pancreatic cancer. + pmids: + - "31406261" + - text: Structures of N-terminally processed KRAS provide insight into the role of N-acetylation. + pmids: + - "31324887" + - text: "Prognostic Value of BRAF and KRAS Mutation in Relation to Colorectal Cancer Survival in Iranian Patients: Correlated to Microsatellite Instability." + pmids: + - "30635874" + - text: "Multiclonal colorectal cancers with divergent histomorphological features and RAS mutations: one cancer or separate cancers?" + pmids: + - "32171651" + - text: "Activating KRAS, NRAS, and BRAF mutants enhance proteasome capacity and reduce endoplasmic reticulum stress in multiple myeloma." + pmids: + - "32747568" + - text: Relationship between KRAS mutation and diffusion weighted imaging in colorectal liver metastases; Preliminary study. + pmids: + - "32109834" + - text: Prognostic and predictive value of KRAS mutation number in metastatic colorectal cancer. + pmids: + - "32991469" + - text: The GTPase KRAS suppresses the p53 tumor suppressor by activating the NRF2-regulated antioxidant defense system in cancer cells. + pmids: + - "32001619" + - text: Association of KRAS mutation with tumor deposit status and overall survival of colorectal cancer. + pmids: + - "32394229" + - text: Undermining Glutaminolysis Bolsters Chemotherapy While NRF2 Promotes Chemoresistance in KRAS-Driven Pancreatic Cancers. + pmids: + - "31911550" + - text: "Long noncoding RNA SNHG14 accelerates cell proliferation, migration, invasion and suppresses apoptosis in colorectal cancer cells by targeting miR-944/KRAS axis through PI3K/AKT pathway." + pmids: + - "31799655" + - text: "Diffusion kurtosis imaging-derived histogram metrics for prediction of KRAS mutation in rectal adenocarcinoma: Preliminary findings." + pmids: + - "30637861" + - text: Functional characterisation of a novel class of in-frame insertion variants of KRAS and HRAS. + pmids: + - "31160609" + - text: Circulating Tumor DNA in KRAS positive colorectal cancer patients as a prognostic factor - a systematic review and meta-analysis. + pmids: + - "32763752" + - text: "Simplified molecular classification of lung adenocarcinomas based on EGFR, KRAS, and TP53 mutations." + pmids: + - "32005111" + - text: "BRAF, KRAS and PIK3CA Mutation and Sensitivity to Trastuzumab in Breast Cancer Cell Line Model." + pmids: + - "31983154" + - text: Development and validation of a MRI-based radiomics signature for prediction of KRAS mutation in rectal cancer. + pmids: + - "31942672" + - text: The KRAS-variant and its impact on normal breast epithelial cell biology. + pmids: + - "30932013" + - text: An albuminbinding domain and targeting peptidebased recombinant protein and its enediyneintegrated analogue exhibit directional delivery and potent inhibitory activity on pancreatic cancer with Kras mutation. + pmids: + - "32020213" + - text: "Aberrant epigenetic inactivation of RASSF1A and MGMT gene and genetic mutations of KRAS, cKIT and BRAF in Indian testicular germ cell tumours." + pmids: + - "31653608" + - text: "Mutation Status of RAS, TP53, and SMAD4 is Superior to Mutation Status of RAS Alone for Predicting Prognosis after Resection of Colorectal Liver Metastases." + pmids: + - "31221662" + - text: Rectal Aberrant Crypt Foci in Humans Are Not Surrogate Markers for Colorectal Cancer Risk. + pmids: + - "31136360" + - text: "KRAS, NRAS, and BRAF mutation prevalence, clinicopathological association, and their application in a predictive model in Mexican patients with metastatic colorectal cancer: A retrospective cohort study." + pmids: + - "32628708" + - text: Pancreatic stellate cells activated by mutant KRAS-mediated PAI-1 upregulation foster pancreatic cancer progression via IL-8. + pmids: + - "31695760" + - text: Mutational profile of Brazilian lung adenocarcinoma unveils association of EGFR mutations with high Asian ancestry and independent prognostic role of KRAS mutations. + pmids: + - "30824880" + - text: Copper bioavailability is a KRAS-specific vulnerability in colorectal cancer. + pmids: + - "32709883" + - text: MEK nuclear localization promotes YAP stability via sequestering beta-TrCP in KRAS mutant cancer cells. + pmids: + - "30833665" + - text: "Epidermal growth factor receptor (EGFR), KRAS, and BRAF mutations in lung adenocarcinomas: A study from India." + pmids: + - "30591192" + - text: Novel activating KRAS mutation candidates in lung adenocarcinoma. + pmids: + - "31787238" + - text: A Spontaneous Aggressive ERalpha+ Mammary Tumor Model Is Driven by Kras Activation. + pmids: + - "31390566" + - text: Weighted gene coexpression network analysis identifies hub genes related to KRAS mutant lung adenocarcinoma. + pmids: + - "32769881" + - text: Mu-KRAS attenuates Hippo signaling pathway through PKCiota to sustain the growth of pancreatic cancer. + pmids: + - "31230347" + - text: Oncogenic ERBB2 aberrations and KRAS mutations cooperate to promote pancreatic ductal adenocarcinoma progression. + pmids: + - "31046123" + - text: Multivalent assembly of KRAS with the RAS-binding and cysteine-rich domains of CRAF on the membrane. + pmids: + - "32414921" + - text: The Prognostic Impact of KRAS Mutation in Patients Having Curative Resection of Synchronous Colorectal Liver Metastases. + pmids: + - "30276588" + - text: "PCC0208023, a potent SHP2 allosteric inhibitor, imparts an antitumor effect against KRAS mutant colorectal cancer." + pmids: + - "32335126" + - text: A systems mechanism for KRAS mutant allele-specific responses to targeted therapy. + pmids: + - "31551296" + - text: MK615 Suppresses Hypoxia Tolerance by Up-regulation of E-cadherin in Colorectal Cancer Cells With Mutant KRAS. + pmids: + - "32727793" + - text: Mutant KRAS Promotes NKG2D(+) T Cell Infiltration and CD155 Dependent Immune Evasion. + pmids: + - "32727790" + - text: Long Non-coding RNA LINC01420 Contributes to Pancreatic Cancer Progression Through Targeting KRAS Proto-oncogene. + pmids: + - "31562613" + - text: Assessing pathogenic mutations in dental follicles as an attempt to identify early events in odontogenic tumours tumourigenesis. + pmids: + - "31543246" + - text: "Results present evidence that KRAS-mutant pancreatic ductal adenocarcinoma cells can channel their glucose metabolism away from the mitochondria by a previously unappreciated means: programmed mitophagy via the mediator BNIP3L/NIX. Oncogenic KRAS induces NIX expression and suppression of mitochondrial content in a MAPK pathway-dependent fashion." + pmids: + - "31263025" + - text: A subset of papillary fibroelastomas harbor pathogenic KRAS mutations. + pmids: + - "32141886" + - text: "Targeting the KRAS, p38alpha, and NF-kappaB in lung adenocarcinoma cancer cells has been reported." + pmids: + - "30656741" + - text: Patients with wtKRAS tumors appear to have the highest likelihood of experiencing a major response after preoperative chemotherapy. Codon 13 mutations were independently associated with minor pathologic response. + pmids: + - "30979646" + - text: "In patients with mutant KRAS, those in the high p53 group exhibited significantly longer OS than those in the low p53 group" + pmids: + - "31834556" + - text: "The presence of KRAS mutations in the colorectal cancer specimens, especially G12D or G13D mutations, seems to promote pulmonary metastases formation." + pmids: + - "31773354" + - text: "APEH knockdown abrogated RAS-RAF-MAPK signaling in cells expressing the constitutively active (oncogenic) mutant of KRAS (KRASG12V), and selectively inhibited the proliferation of KRAS-transformed pancreatic cancer cells. Taken together, these results identify APEH as a novel drug target for a potential anti-KRAS therapeutic." + pmids: + - "31266814" + - text: "KRAS mutations were identified in codon 12 and 13, and include KRAS_12V, KRAS_G12S, KRAS_G12D, KRAS_G13C and KRAS_G13D were seen in Papillary thyroid carcinoma." + pmids: + - "32315324" + - text: A subset of endosalpingiotic lesions are clonal and harbour the same oncogenic driver mutations in KRAS shared with low-grade ovarianserous tumours. + pmids: + - "31576556" + - text: analysis of genetic interactions with a KRAS(G12C) inhibitor in cellular models of KRAS(G12C) mutant lung and pancreatic cancer using CRISPR interference + pmids: + - "31138768" + - text: "inhibition of the Golgi-localized PI4-kinases (PI4Ks) translocates K-Ras, and PtdSer to mitochondria and endomembranes, respectively." + pmids: + - "31331963" + - text: "\"intramuscular hemangioma capillary type\" (IHCT) lesions are phenotypically similar to arteriovenous malformation (AVM) and contain the same somatic MAP2K1 or KRAS mutations, suggesting that IHCT is on the AVM spectrum. We propose calling this lesion \"intramuscular fast-flow vascular anomaly." + pmids: + - "31486960" + - text: "have shown that targeting ORP5, ORP8, or PI4KIIIalpha depletes the PM of PtdSer resulting in mislocalization of KRAS and reduced nanoclustering of KRAS that remains PM bound in all cell lines tested. In turn, these perturbations of KRAS PM interactions lead to reduced proliferative and tumorigenic capacity of KRAS-mutant cancer cells." + pmids: + - "31451509" + - text: In vitro cell models differ in the basal transcriptional profile of the KRAS signalling pathway. + pmids: + - "31375828" + - text: "The dynamics of the KRAS4b G-domain at the bilayer surface are altered in the presence of phosphatidylinositol 4,5-bisphosphate (PIP2), due to the formation of long-lived salt bridges with basic residues on the G-domain." + pmids: + - "31339036" + - text: "Results provide evidence that KRAS activation in gastric adenocarcinoma cells stimulates EMT and transition to cancer stem-like cells, thus promoting metastasis" + pmids: + - "31217166" + - text: the presence of concomitant EGFR mutation can affect the tyrosine kinase inhibitors response of KRAS-mutated cells. + pmids: + - "32130260" + - text: These results reveal novel insights into to how KRAS4B may organize on membranes. + pmids: + - "31330153" + - text: The combination of KRAS and SMAD4 mutations in DNA obtained from formalin-fixed paraffin-embedded tissues is an independent poor prognostic factor in pancreatic ductal adenocarcinoma + pmids: + - "32314446" + - text: "Acquired resistance, in patients with initial treatment benefit, is mainly explained by polyclonal emergence of RAS, BRAF, and EGFR mutations in circulating tumor DNA." + pmids: + - "31350822" + - text: Our analyses also revealed that this is irrespective of the presence of mutations as the correlation coefficients in the wildtype study group was similar to the patient group that had KRAS or BRAFmutations + pmids: + - "31658042" + - text: "Rs712 polymorphism T>G in the 3'-untranslated region of KRAS interrupts the interactions between let-7g and KRAS mRNA, leading to a higher cell proliferation index and reduced doubling time of thyroid nodules." + pmids: + - "31152438" + - text: "Overexpression of HAO2 by plasmid promoted lipid catabolic process, eliminated lipid accumulation, inhibited KRAS expression, controlled the proliferation, migration, and invasion activity of clear cell renal cell carcinoma (ccRCC) tumor cells." + pmids: + - "31127626" + - text: Highly sensitive digital PCR detects low abundance KRAS mutations in colorectal cancer specimens for prediction of treatment outcome in phase 2 clinical trial of panitumumab plus FOLFIRI. + pmids: + - "30840064" + - text: "Ras overactivation switches the pattern of PDIA1-dependent Rac1/Nox1 regulation, so that Ras-induced PDIA1 bypass can directly activate Rac1. PDIA1 may be a crucial regulator of redox-dependent adaptive processes related to cancer progression." + pmids: + - "30760703" + - text: These findings indicate that the rs12587 G>T polymorphism in KRAS is associated with increased Wilms tumor susceptibility; polymorphisms of NRAS did not influence the risk. + pmids: + - "30860980" + - text: GSK-J4 as a potential treatment option for cancer patients with KRAS mutations. + pmids: + - "31506334" + - text: This process occurred when Kras/Erk/ADAM17 signaling was switched on. + pmids: + - "31506332" + - text: "HMGA2 and KRAS could be translationally downregulated by the hsa-let-7d-3p, and the loss of hsa-let-7d-3p expression led to the progression of EOC related to the tumorigenesis, invasion, and metastasis." + pmids: + - "31898667" + - text: KRAS mutations occur in almost one-third of brain arteriovenous malformations + pmids: + - "31026472" + - text: Decitabine is a promising drug for cancer cells dependent on RAS signaling. + pmids: + - "31492820" + - text: Results show how membrane organization dictates membrane diffusion and trafficking of Ras and offer insight into the spatial regulation of Ras signaling. + pmids: + - "31674905" + - text: KRAS mutations and activation of the MAPK-ERK signaling pathway occur in implant-associated peripheral giant cell granuloma. + pmids: + - "31758745" + - text: RAS/TP53 co-mutation was the only factor independently associated with increased risk of recurrence for all groups with resection of colorectal liver metastasis. + pmids: + - "31054911" + - text: "we confirmed that miR-487b is a CRC suppressor that prevents the EMT process and targets MYC, SUZ12, and KRAS to inhibit the proliferation, migration and invasion of CRC cells. Meanwhile, miR-487b is negatively regulated by DNA methylation" + pmids: + - "30791232" + - text: "Cooperation between KRAS and TP53 oncogenic mutations in pancreatic ductal carcinoma activates the ARF6-AMAP1 pathway to promote tumor malignancies and evade the immune system. KRAS primarily acts to promote eIF4A/4E-dependent mRNA translation to up-regulate ARF6 and AMAP1 protein expression, whereas, TP53 facilitates ARF6 activation by platelet-derived growth factor receptor(PDGFR)." + pmids: + - "31399545" + - text: KRAS is a useful biomarker in metastatic colorectal cancer (Review) + pmids: + - "31597434" + - text: Results highlight a mechanistic connection between KRAS(A146T) and KRAS(V14I) that may have implications for the regulation of these variants. + pmids: + - "31341022" + - text: Loss of heterozygosity (LOH) was analyzed in a cohort of EGFR-mutated non-small-cell lung cancer (NSCLC) patients who were positive or negative for EGFR mutations in their cfDNA. Patients carrying KRAS mutations were also analyzed. No association between KRAS status in cfDNA and number of LOH events was found. + pmids: + - "31861832" + - text: "we report a role for MEK-driven lactate production in mTORC1 activation in KRAS-activated cells. KRAS/MEK-induced upregulation of the chicken ovalbumin upstream promoter transcriptional factor II (COUP-TFII) increases the expression of lactate dehydrogenase A (LDHA), resulting in lactate production and mTORC1 activation." + pmids: + - "30988000" + - text: A germ-line single-nucleotide polymorphism in the let-7 microRNA-binding site of the KRAS gene was not associated with sporadic endometriosis in an infertile Caucasian population + pmids: + - "31185482" + - text: The IntelliPlextrade mark KRAS G12/13 Mutation Kit demonstrates suitable specificity and sensitivity for use in clinical laboratories to determine the mutational status of KRAS codons 12 and 13. + pmids: + - "31347028" + - text: "Combining clinical factors and COX-2/C-MET/KRAS expression status, our models provided accurate prognostic information in CRC. They can be used to aid treatment decisions in clinical practice." + pmids: + - "30720004" + - text: Data suggest the mitogenic role of gastrin in activation of K-Ras protein (KRAS) during pancreatic carcinogenesis. + pmids: + - "31268978" + - text: "a direct GTP-dependent interaction between KRAS4A and hexokinase 1 (HK1) is reported, that alters the activity of the kinase, and thereby establishes that HK1 is an effector of KRAS4A" + pmids: + - "31827279" + - text: "KRAS-mutated NSCLC represents a genetically heterogeneous subgroup with a high frequency of co-occurring mutations in cancer-associated pathways, partly associated with distinct KRAS mutation subtypes." + pmids: + - "30605727" + - text: Nf1 loss promotes Kras-driven lung adenocarcinoma and results in Psat1-mediated glutamate dependence. + pmids: + - "31036704" + - text: KRAS mutation is a recurrent mechanism of primary and secondary resistance to MET tyrosine kinase inhibitors in METex14 lung cancers. + pmids: + - "30352902" + - text: "a high proportion of adenomatoid odontogenic tumors (27/38, 71%) have KRAS codon 12 mutations" + pmids: + - "30643167" + - text: BCAT2-mediated branched-chain amino acids catabolism is critical for the development of pancreatic ductal adenocarcinoma-harboring KRAS mutations. + pmids: + - "32029896" + - text: This study identified a relationship between KRAS mutation and mucinous phenotype in gastric cancer; a high level of intratumour morphological heterogeneity could reflect KRASmut heterogeneity + pmids: + - "31111275" + - text: KRas-ERK signalling promotes the onset and maintenance of uveal melanoma through regulating JMJD6-mediated H2A.X phosphorylation + pmids: + - "31736361" + - text: Study demonstrated that Kras harboring G12D mutation in the pancreas is sufficient to induce pancreatic ductal adenocarcinoma in cooperation with TGIF1 deficiency. + pmids: + - "31109321" + - text: KRAS and BRAF gene mutations correlate with various histologic features of ovarian serous borderline tumor and subsequent development of serous carcinoma. + pmids: + - "31343420" + - text: "Study found recurring KRAS mutations in 26/70 (37.1%) of adenomyosis cases. Multi-regional sequencing reveals oligoclonality in adenomyosis, with some mutations also detected in normal endometrium and/or co-occurring endometriosis. KRAS mutations are more frequent in cases of adenomyosis with co-occurring endometriosis, low progesterone receptor expression, or progestin pretreatment." + pmids: + - "31857578" + - text: "The findings strongly suggest that pathogenic hotspot KRAS, FGFR1 and NF1 mutations underlie the vast majority of non-ossifying fibroma of the bone." + pmids: + - "30549028" + - text: "KRAS mutations were the most common genetic alterations involving 22.1% of the cases and being mutually exclusive with the EGFR mutations, which were found in 12.6% of them." + pmids: + - "31711449" + - text: "Our results revealed that increased accumulation of miR143 is likely to modulate levels of KRAS protein expression at the posttranscriptional level by interacting specifically with the complementary site, and consequently inhibiting proliferation of the transfected cells." + pmids: + - "31638218" + - text: "Our results underlined that miR-425-5p might act as an oncogene to participate in the pathogenesis of KRAS-mutated CRC and contribute to increase the aggressiveness of this subcategory of CRC, controlling a complex molecular network" + pmids: + - "31673240" + - text: "Response rate (RR), progression-free survival (PFS) and overall survival (OS) were increasingly improved in patients with RAS wild-type, RAS/BRAF wild-type or quadruple (KRAS/NRAS/BRAF/PIK3CA) wild-type tumours treated with anti-EGFR, assessed by standard-of-care." + pmids: + - "30689692" + - text: "Results found KRAS exon 2 mutations accounting for 83.69% of metastatic colorectal cancer patients in Jordan. KRAS G12D was the most common one, followed by KRAS G12A and G12T. Also, 10.87% mutations in KRAS are found in exon 3 and 4." + pmids: + - "31881025" + - text: "The MRI findings of rectal cancer, especially texture features, showed an encouraging value for identifying KRAS status." + pmids: + - "31727020" + - text: "hese findings indicated that this synthetic miR-143#12 induced a marked growth inhibition by impairing K-RAS-signaling networks in vitro and in vivo." + pmids: + - "30930112" + - text: identified a fragment binder to KRas(G12D) and used (1)H (15)N transverse relaxation optimized spectroscopy (TROSY) heteronuclear single-quantum coherence (HSQC) NMR to characterize its binding site as a pocket adjacent to the switch 2 region. + pmids: + - "31399543" + - text: MAP kinase and autophagy pathways cooperate to maintain RAS mutant cancer cell survival. + pmids: + - "30709910" + - text: "data suggest that KRAS mutation is predictive of a superior response to immunotherapy. Furthermore, the lack of response of STK11 and KRAS co-mutated NSCLC patients to ICIs, is indeed negated by an additional TP53 mutation." + pmids: + - "31659111" + - text: "EGFR and KRAS mutations were found in 10.7% and 16.6% of all histologies, respectively, and in 14.9% and 21.9% of adenocarcinomas. At 4.5 years median follow-up, KRAS status was an independent negative prognostic factor for overall survival (OS, p=0.016). KRAS mutations conferred 80% increased risk of death in patients receiving first-line treatment" + pmids: + - "31659106" + - text: It was established that there is no reliable dependence of rate of KRAS gene mutation in patients with colorectal cancer in the region of their residence in Kazakhstan + pmids: + - "32119223" + - text: "Our data suggest that dysfunction of cytoplasmic KARS resulted in a decreased level of translation of the nuclear-encoded lysine-rich proteins belonging to the respiratory chain complex, thus impairing mitochondria functions." + pmids: + - "31116475" + - text: "patients undergoing surgical resection of colorectal cancer and synchronous liver metastases, m-KRAS was associated with right-sided lesions and African-American ethnicity. Compared to wt-KRAS, m-KRAS was associated with a reduced DSS. Additionally, right-sided lesions were an independent negative prognostic factor for DSS." + pmids: + - "31500429" + - text: "Studies suggest that carcinoembryonic antigen and cytology are more accurate than KRAS proto-oncogene [Review and Meta-Analysis]." + pmids: + - "31206466" + - text: "As FOLFIRI+Bevacizumab has recently also been associated with sustained complete remission in a APC/TP53/KRAS triple-mutated patient, these driver genes should be tested and monitored in a more in-depth manner in future patients." + pmids: + - "31900123" + - text: "Addition of anti-EGFR in left sided K-RAS wild-type metastatic colorectal cancer (mCRC) regarding PFS was beneficial, however there was no difference in terms of OS." + pmids: + - "31646798" + - text: "Our study confirmed that after bevacizumab-based treatment, KRAS status might not be a prognostic factor. We have also shown that left Colorectal cancer (CRC) have more favorable outcomes than right CRC in bevacizumab therapy" + pmids: + - "31646797" + - text: K-RAS mutation-positive follicular neoplasm/suspicious for follicular neoplasm nodules have a 50% risk of malignancy and surgery should be recommended. Combined use of ACR TIRADS and K-RAS mutation may facilitate risk-stratification of patients with CITNs. + pmids: + - "31295281" + - text: MiR-143-3p may suppress tumorigenesis in Pancreatic ductal adenocarcinoma by targeting KRAS. + pmids: + - "31521891" + - text: was no significant difference of K-ras gene mutation between primary malignancies patients with colorectal cancer (CRC) and patients with single CRC + pmids: + - "32075360" + - text: "SNORD50A/B RNAs shape the composition of proteins proximal to KRAS, notably by inhibiting KRAS proximity to the SNARE vesicular transport proteins." + pmids: + - "31712554" + - text: beta-Catenin is a potent biomarker candidate for alleviating MEK inhibitor resistance in KRAS mutant colon cancer cells with PIK3CA mutations. + pmids: + - "30944457" + - text: "Our study demonstrates that [(89)Zr]Zr-Tf is a valuable tool to noninvasively assess oncogene status and target engagement of small-molecule inhibitors downstream of oncogenic KRAS, allowing a quantitative assessment of drug delivery." + pmids: + - "30228208" + - text: KRAS mutation status can help predict recurrence-free survival. Primary tumor location was not a prognostic factor after resection. KRAS mutation status can help design a multidisciplinary approach after curative resection of CLM. + pmids: + - "31426677" + - text: Results indicate that oncogene addiction can be targeted for therapy in colon cancer cells harboring the KRAS-mutant. + pmids: + - "30674639" + - text: "MAPK signaling dependency in epithelial lung cancer cells is due to the scaffold protein interleukin-17 receptor D (IL17RD), which is directly repressed by ZEB1." + pmids: + - "30867319" + - text: Results from tumor biopsies and blood-derived ctDNA biopsies were used to investigate the level of concordance for altered KRAS among 433 patients with diverse cancer types in order to determine temporal and spatial effects on concordance across the spectrum of malignancies suggest that presence of KRAS alterations in both tests is an independent prognostic factor for poor survival. + pmids: + - "31199507" + - text: "Summary of the types of KRAS mutations and their relationship with pancreatic cancer and included the downstream signaling pathway Raf-MEK-ERK, PI3K-AKT, RalGDS-Ral of KRAS (review)" + pmids: + - "31456520" + - text: BRAF mutation and dMMR. KRAS and BRAF mutations were independent risk factors for shorter overall survival (OS) in Stage IV tumors but not in Stage I-III tumors. NRAS mutation was an independent risk factor for shorter OS in Stage I-II tumors + pmids: + - "31162857" + - text: Cigarette smoking-induced airway epithelium remodeling is mediated by abnormal activation of KRAS-dependent signaling mechanisms. + pmids: + - "31399087" + - text: JAK1/2 inhibition as promising therapy for K-RAS-driven lung AC. + pmids: + - "31407334" + - text: Authors demonstrated that enforced PCDH7 expression significantly accelerates Kras(G12D) -driven lung tumorigenesis and potentiates MAPK pathway activation. + pmids: + - "30409919" + - text: High Frequency of KRAS Codon 146 is associated with colon Cancer. + pmids: + - "31450901" + - text: The small numbers of KRAS mutations and ALK rearrangements are the limitation of this study for evaluation of diagnostic imaging. The frequency of these genetic alterations was as reported in the literature. We believe that our work will contribute to future meta-analysis. + pmids: + - "31910789" + - text: The aim of this study was to clarify the impact of KRAS mutations on prognosis in patients with stage I-III colorectal cancer + pmids: + - "30739887" + - text: "Even if the found, KRAS G12D mutation is predicted to be tolerated and has no deleterious effect on the entire Ras protein; the consequence of this missense mutation depends mainly on the position in the protein and the chemical properties of the amino acid involved in the substitution and which shows a strong affinity with the GTP molecule." + pmids: + - "31021322" + - text: Sinonasal inverted papilloma and sinonasal oncocytic papilloma are two clinical entities with different genetic mutational patterns of EGFR and KRAS. Mixed types with elements of both may harbour both EGFR and KRAS mutations. + pmids: + - "30916792" + - text: KRAS codon 12G-to-V or G-to-C mutations are independent prognostic factors in patients with stage I-III colorectal cancer. + pmids: + - "31309326" + - text: KRAS mutations in codon35 were detected in about two thirds of specimens with brain arteriovenous malformations + pmids: + - "30902772" + - text: KRAS hotspot mutations remain a rare event in diffuse gliomas. Targeted screening of oligodendrogliomas for KRAS mutations does not provide additional diagnostic benefit in clinical practice. + pmids: + - "30676672" + - text: "Some smoking characteristics, i.e. being an ex-smoker, frequency and inhalation, may be associated with risk for colorectal cancer characterized by the wild-type KRAS gene, especially in men." + pmids: + - "18296105" + - text: Alcohol consumption is weakly associated with an increased risk of having a K-ras mutated pancreatic ductal adenocarcinoma + pmids: + - "19326463" + - text: "KRAS does not seem an \"a priori\" negative factor for TKI-based treatment of NSCLC" + pmids: + - "19596959" + - text: Sorafenib inhibits NSCLC cell growth by targeting B-RAF in cells with wild-type KRAS and C-RAF in those with mutant KRAS. + pmids: + - "19638574" + - text: Features of KRAS mutations in lung cancer contrast with the features of EGFR mutations. + pmids: + - "20108024" + - text: "Human lung adenocarcinoma cases lacking EGFR, KRAS, and ALK mutations had a worse prognosis for relapse and death, compared with cases with EGFR, KRAS, or ALK mutations" + pmids: + - "22080568" + - text: This study provides significant guidance for narrowing down the number of KRAS mutations to be screened as potential diagnostic biomarkers and to better understand the structural and functional mechanisms of the KRAS protein + pmids: + - "31117243" + - text: The V-Ki-ras2 Kirsten rat sarcoma viral oncogene homolog (KRAS) mutation status has been identified as an important factor in the treatment of colorectal cancer. + pmids: + - "31439256" + - text: Targeted degradation of the KRAS oncoprotein through the ODC/AZ pathway at the post-translational level may reflect a more effective future therapeutic strategy for pancreatic cancer patients + pmids: + - "30347501" + - text: Kras(G12D) mutation plays a critical role in Treg conversion and contributes to an immunosuppressive tumour microenvironment in pancreatic cancer. + pmids: + - "30664964" + - text: Our preclinical study supports further clinical evaluation of combined MEK inhibition and chemotherapy for lung cancer patients harboring KRAS (G12C) and wild-type p53 status. + pmids: + - "29945997" + - text: KRAS exon 3 and PTEN exon 7 mutations had no significant impact on overall survival of small-cell lung cancer patients. + pmids: + - "31209806" + - text: Results provide evidence that KRAS and EGFR gene amplifications mediate resistance to the third-generation EGFR TKIs rociletinib and osimertinibin acquired Afatinib-resistant non-small cell lung cancer harboring exon 19 deletion/T790M in EGFR. + pmids: + - "30322949" + - text: "KRAS is frequently mutated in endometriotic epithelium, with a higher mutant allele frequency accompanied by arm-level allelic imbalances." + pmids: + - "30110635" + - text: Findings highlight the prognostic significance of the transcriptional regulator Id1 in KRAS-mutant lung adenocarcinoma and provide mechanistic insight into how it controls tumor growth and metastasis. + pmids: + - "30563891" + - text: "Using patient-derived cell line and xenografts, we characterize the mechanism of crizotinib resistance mediated by KRAS amplification in METex14-mutant NSCLC and demonstrate the superior efficacy of the dual MET/PI3K inhibition as a therapeutic strategy addressing this resistance mechanism." + pmids: + - "30072474" + - text: The LKB1 mutation in KRAS-mutant NSCLC conferred enhanced radiosensitization in combination with trametinib. The WT LKB1 could activate autophagy through AMPK pathway to induce resistance to the combination of trametinib and radiation. + pmids: + - "30068711" + - text: "Although patients with baseline ctDNA RAS mutations had worse outcomes than patients who were WT RAS before initiating treatment, emergent ctDNA RAS mutations were not associated with less favorable patient outcomes in panitumumab-treated patients." + pmids: + - "29898991" + - text: the expression of KRAS G12V expression did not change Yap/Taz activity in myoblasts and there was a limited overlap in gene expression between KRAS G12V and YAP1 S127A-driven tumours. + pmids: + - "30353028" + - text: we used this to investigate mechanisms of cEt-ASO trafficking across a panel of cancer cells. We found that the extent of ASO-mediated KRAS mRNA knockdown varied significantly between cells and that this did not correlate with bulk levels of intracellular accumulation + pmids: + - "30927008" + - text: Activation of Src might prove effective in treating EGFR/wild-type KRAS colon cancer. + pmids: + - "30158525" + - text: "Patients with KRAS exon 2 wild-type (WT) mCRC following failure of fluoropyrimidine-based therapy received i.v. irinotecan and panitumumab every 2 weeks, and everolimus orally throughout a 14-day cycle. The primary endpoint of the phase II study was response rate (RR). Secondary survival outcomes were calculated using the Kaplan-Meier method, and results were analyzed as intention to treat." + pmids: + - "29739790" + - text: "We find that most JAK2 mutations, some TP53 mutations, and rare KRAS mutations detected in cfDNA are derived from clonal hematopoiesis, CH not tumor. Clinicians ordering plasma genotyping must be prepared for the possibility that mutations detected in plasma, particularly in genes mutated in CH, may not represent true tumor genotype." + pmids: + - "29567812" + - text: "Study in Norwegian cohort of primary colorectal cancer patients revealed that BRAFV600E mutations are enriched and associated with metastatic disease in consensus molecular subtype-1 (CMS1) microsatellite stable (MSS) tumors, leading to poor prognosis in this subtype. KRAS mutations are associated with adverse outcome in epithelial (CMS2/CMS3) MSS tumors." + pmids: + - "29518181" + - text: "Study shows that LIF expression is induced specifically by oncogenic KRAS in pancreatic ductal adenocarcinomas (PDAC) and that LIF depletion by genetic means or by neutralizing antibodies prevents engraftment in pancreatic xenograft models. The related cytokine IL-6 cannot substitute for LIF, suggesting that LIF mediates KRAS-driven malignancies through a non-STAT-signaling pathway." + pmids: + - "31296870" + - text: "That CRISPR-Cas9-mediated genome editing can potentially be used for the treatment of cancer patients, specifically those with oncogenic KRAS mutations." + pmids: + - "30089886" + - text: "Inhibition of either autophagy or asparagine synthetase reduced KRAS(G12V)-driven tumor cell proliferation, migration, and invasion." + pmids: + - "29956571" + - text: Alterations of mTOR signaling impact metabolic stress resistance in colorectal carcinomas with BRAF and KRAS mutations. + pmids: + - "29907857" + - text: "This study found \"rare mutations\" in RAS genes in nearly 14% of colorectal cancer (CRC) -i.e., in almost a quarter (24.0%) of KRAS exon 2 wild type CRCs, including 2.3% in KRAS exon 3, 8.2% in KRAS exon 4 and 3.4% in NRAS. Stage I-III patients with PIK3CA or NRAS mutations developed more distant metastases (3-year risk in PIK3CA mutated and wild type patients: 23.3% vs 11.5%, P = 0.03." + pmids: + - "29666387" + - text: Full-length EGFR and truncated EGFRvIII work through KRAS to upregulate the chemokine CCL2 and drive macrophage infiltration in glioblastoma + pmids: + - "30401716" + - text: "Despite affecting an identical amino acid in both KARS isoforms, results show that the disease-causing variant p.(Pro228Leu) inhibits specifically mitochondrial, but not cytosolic, translation." + pmids: + - "30252186" + - text: "Dual-luciferase reporter assay in pancreatic ductal adenocarcinoma (PDAC) cells validated that TP53TG1 and 3'UTR of KRAS oncogene mRNA competitively bind with miR-96. Data further indicate that TP53TG1 could effectively function as a sponge for miR-96 to modulate the derepression of KRAS, thus promoting PDAC development." + pmids: + - "31325400" + - text: identified focally upregulated FAK and collagen-associated collective invasion in KRAS and LKB1 comutated human lung adenocarcinoma patients. Our results suggest that patients with LKB1 mutant tumors should be stratified for early treatment with FAK inhibitors + pmids: + - "28289710" + - text: "In response to hypoxia, pancreatic ductal adenocarcinoma cells that express activated KRAS increase expression of carbonic anhydrase 9, via stabilization of HIF1A and HIF2A, to regulate pH and glycolysis." + pmids: + - "31078621" + - text: "Nivolumab is an effective and safe treatment option for patients with previously treated, advanced non-squamous non-small-cell lung cancer regardless of KRAS mutations." + pmids: + - "30377342" + - text: Plasma KRAS mutations were detected in 5/17 (29.4%) patients. KRAS ctDNA detection was associated with shorter survival (8 vs. 37.5 months). + pmids: + - "29371474" + - text: "we found that BLT2, a cell surface GPCR for leukotriene B4 and 12hydroxyeicosatetraenoic acid, is highly upregulated in KRAS mutant LOVO and SW480 colorectal cancer cells and plays critical roles in mediating proliferation through activation of phosphatidylinositol 3kinase (PI3K)/protein kinase B (Akt) and subsequent upregulation of cyclin D1." + pmids: + - "30553812" + - text: "Oncogenic KRAS, together with beta-Catenin, favours expansion of crypt cells with high ERK activity." + pmids: + - "31266962" + - text: "RAS genes (HRAS, KRAS, and NRAS) comprise the most frequently mutated oncogene family in human cancer. With a near 100% KRAS mutation frequency, pancreatic ductal adenocarcinoma (PDAC) is considered the most RAS-addicted of all cancers. [review]" + pmids: + - "29229669" + - text: "results demonstrated that O-GlcNAcylation was sufficient and required to accelerate KrasG12D lung tumorigenesis in vivo, which was reinforced by epithelial plasticity programs." + pmids: + - "30130254" + - text: KRAS mutation is associated with ovarian mucinous carcinoma. + pmids: + - "31030485" + - text: "Two patients harbored KRAS with codon 12 mutations; one harbored the gly12val mutation with a variation of leu597val in the BRAF exon 15 codon, the other harbored mutation in the BRAF exon 15 codon. One patient harbored a codon 117 mutation with a BRAF V600E mutation. The last patient harbored a NRAS exon 2 mutation with the GGT/GAT, V600G mutation in the BRAF exon 15 codon" + pmids: + - "31062740" + - text: Mutations of RAS/RAF Proto-oncogenes Impair Survival After Cytoreductive Surgery and HIPEC for Peritoneal Metastasis of Colorectal Origin. + pmids: + - "30303876" + - text: "The study shows a high concordance of KRAS, NRAS, BRAF and PIK3CA gene mutations in plasma against mutation status in tumor tissue." + pmids: + - "31104677" + - text: findings support a causative role of somatic tumour-related mutations of KRAS/BRAF in the overwhelming majority of brain and spinal arteriovenous malformations. + pmids: + - "30544177" + - text: KRAS up-regulation is a promising strategy for lung cancer therapy. + pmids: + - "30971271" + - text: "In colorectal cancer with K-ras gene mutation, the expression of TAK1 protein was positively correlated with the expression of MAP4K2 protein" + pmids: + - "31037906" + - text: Our findings suggest that mutant K-Ras plays an oncogenic role through downregulating miR-199b in NSCLC and that overexpression of miR-199b is a novel strategy for the treatment of K-Ras-mutated NSCLC. + pmids: + - "30987652" + - text: HIC-5 regulates mitochondrial ROS production in tumor cells while requiring activated KRAS to mediate its effect on NOX4 in oncogene-induced senescence and tumor invasiveness. + pmids: + - "30281903" + - text: Colorectal tumors with multiple pit patterns exhibited more advanced pit patterns and higher frequencies of KRAS and/or TP53 mutations than tumors with a single pit pattern + pmids: + - "29948303" + - text: HIC-5 regulates mitochondrial ROS production in tumor cells while requiring activated KRAS to mediate its effect on NOX4 in oncogene-induced senescence and tumor invasiveness. + pmids: + - "30680933" + - text: finding of 5 mutations in RAS-expanded genes allowed us to understand the resistance to cetuximab in 33% of KRAS WT exon 2 nonresponder patients. HER2 does not seem to be a potential biomarker for cetuximab-targeted therapy. + pmids: + - "30199395" + - text: "The authors found KRAS exon 2 and BRAF(V600E) mutation rates were 37.7 and 2.8% in colorectal cancer patients. Tumors with KRAS exon 2 mutations were more likely to be present in female and patients aged older than 75 years, right colon and have well-differentiated histology. Tumors with BRAF(V600E) mutations were more likely to be present in the female, right colon and have poorly differentiated histology." + pmids: + - "30414169" + - text: "Tumor location has been proposed as an additional prognostic indicator and -more recently- as a factor with significant influence on the prognostic value of particular molecular markers and/or combination of markers (KRAS, MSI, APC/MSI), allowing the discrimination of specific disease subsets with considerably disparate outcome and the identification of high risk cases" + pmids: + - "29745066" + - text: KRAS and NRAS gene mutations are associated with sporadic colorectal cancer. + pmids: + - "29921458" + - text: KRAS is the most frequently mutated gene in human cancers. Direct inhibition of KRAS via pharmacological inhibitors has been challenging + pmids: + - "31289919" + - text: These findings suggested that syn-miR-143 acted as a tumor suppressor through the impairment of KRAS networks including the DDX6. + pmids: + - "30959742" + - text: "Sex differences may affect the presentation of KRAS mutations in patients with colorectal cancer (CRC), which were more frequently detected in women and men with in right-sided CRC; KRAS codon 13 mutations were significantly associated with high-plasma cholesterol" + pmids: + - "28277374" + - text: "Knockdown of MSI2 induced downregulation of KRAS, and overexpression of MSI2 upregulated KRAS without causing an increase in the level of KRAS mRNA in bladder cancer. These results indicated that MSI2 post-transcriptionally regulated KRAS expression. Furthermore, MSI2 positively regulated KRAS expression through directly binding to the target sequence UAGUA in the 3'UTR region of KRAS mRNA." + pmids: + - "31066120" + - text: The coregulation of beta-catenin and RAS stabilities by the modulation of their interaction provides a mechanism for Wnt/beta-catenin and RAS-ERK pathway cross-talk and the synergistic transformation of colorectal cancer by both APC and KRAS mutations. + pmids: + - "30413483" + - text: "FOSL1 is a determinant of lung cancer in vivo and regulates tumor cell proliferation and survival, largely in the context of KRAS mutations through amphiregulin and cell survival gene regulation." + pmids: + - "29112457" + - text: The presence of KRAS mutations in parental tumours is associated with an acceleration of the growth rate of cultured tumoroids. + pmids: + - "30884019" + - text: KRAS mutation at codon 12 and the presence of MAPK/ERK pathway proteins were detected suggesting their association with tumorigenesis of adenomatoid odontogenic tumors. + pmids: + - "30294831" + - text: "This study investigated a bypass mechanism of resistance to MEK inhibition in KRAS colorectal cancer (CRC). KRAS mutant colorectal cancer cells with refametinib, MEK inhibitor, induced MIF secretion and resulted in activation of STAT3 and MAPK." + pmids: + - "29896883" + - text: the effects of NRP1 knockdown in cancer cells are dependent on the genetic status of KRAS. + pmids: + - "29018205" + - text: RRSP is a critical virulence factor that robustly inactivates Ras and Rap1 and augments the pathogenicity of invading bacteria via the combined effects of its N and C lobes. + pmids: + - "30282804" + - text: KRAS mutational status can affect the immune microenvironment and survival of lung adenocarcinoma patients + pmids: + - "29858030" + - text: Results suggest that mutant KRAS promotes RAD51 expression to enhance DNA damage repair and lung cancer cell survival. + pmids: + - "30638176" + - text: "aimed to elucidate the carcinogenic effects of insulin and the synergistic effect with the KRAS mutation in the early stage of pancreatic cancer through PI3K/AKT and ERK1/2 activation, with MMP-2 gelatinolytic activity playing a vital role in this process" + pmids: + - "30838710" + - text: High metabolic tumor volume is associated with KRAS mutation and poor postoperative outcomes in patients with intrahepatic cholangiocarcinoma. + pmids: + - "29642912" + - text: Sirt5 inhibitors in combination with chemotherapeutic agents and/or cetuximab may represent a therapeutic strategy for colorectal cancer patients harboring wild-type Kras. + pmids: + - "29514096" + - text: Study in tumor cell lines shows that MEK1/2 inhibitors (MEKi) resistance driven by KRAS(G13D) amplification is not reversible; these cells do not exhibit growth defects upon MEKi withdrawal but undergo an ERK1/2-dependent epithelial-to-mesenchymal transition and exhibit resistance to commonly used chemotherapeutics. + pmids: + - "31048689" + - text: An actionable requirement for IKKalpha in KRAS-mutant lung adenocarcinoma. + pmids: + - "29588349" + - text: "KRAS mutation is associated with suppressed Th1/cytotoxic immunity in colorectal cancer, the extent of the effect being modulated by CMS subtype. These results add a novel immunobiological dimension to the biological heterogeneity of colorectal cancer." + pmids: + - "29061646" + - text: Mutations in both the p53 tumor suppressor gene and K-ras oncogene are highly frequent in lung tumors from nonsmoking women in China. The predominance of G-->T transversions in both genes and the occurrence of p53 mutations within a specific GC rich region or at specific hotspot codons on the non-transcribed strand are consistent with exposure to smoky coal emissions. + pmids: + - "29704996" + - text: "two major subtypes of KRAS mutant cancers of the lung, pancreas, and large intestine, which reflect different KRAS effector engagement were identified." + pmids: + - "29444439" + - text: MerTK mediates STAT3-KRAS/SRC-signaling axis for glioma stem cell maintenance + pmids: + - "29553850" + - text: Data suggest that Kirsten Ras protein (KRAS) has prognostic value beyond mutation status in microsatellite stable (MSS) colorectal cancer (CRC). + pmids: + - "30121958" + - text: prolonged MAPK pathway inhibition could result in acquired resistance which is associated with increased malignant phenotype in KRAS mutant gastric cancer. + pmids: + - "30466782" + - text: Kras protein expression is controlled by a self-regulating feedforward mechanism mediated by eIF5A-PEAK1.Kras protein level is increased during pancreatic ductal adenocarcinoma progression with the highest levels of expression observed in metastatic cell populations. + pmids: + - "29321164" + - text: A report of the possible use of abundance measures for K-Ras4A for predicting the survival of lung adenocarcinoma patients with KRAS mutations. + pmids: + - "29504894" + - text: KRAS-membrane interaction is tuned by multiple factors + pmids: + - "30559287" + - text: The results indicate that lung cancer patients carrying KRAS mutations are prone to multiple metastases in both lungs. + pmids: + - "29454587" + - text: "KRAS gene mutations do not affect downstream protein expression in colorectal cancer. KRAS protein is associated with poor tumor differentiation, older age, and a risk of tumor recurrence." + pmids: + - "30809081" + - text: SHP2 inhibition is an unexpected vulnerability of KRAS-mutant non-small-cell lung cancer cells. + pmids: + - "29808006" + - text: "Letter: PIK3CA mutation, in particular, mutation of exon 9, has a significant positive association with KRAS mutation in colorectal cancer." + pmids: + - "30361395" + - text: "SHP2 has a critical function in promoting oncogenic RAS/MAPK pathway activation in cancers with RAS-GTP-dependent oncogenic BRAF, NF1 loss and nucleotide-cycling oncogenic KRAS." + pmids: + - "30104724" + - text: No significant differences were found in the frequency of TP53 and K-ras mutations among patients in the 5 countries. + pmids: + - "30678452" + - text: "introducing a rapid and sensitive microarray-based assay for the multiplex detection of minority mutations of oncogenes (KRAS, NRAS and BRAF) with relevant diagnostics implications in tissue biopsies and plasma samples in metastatic colorectal cancer patients" + pmids: + - "30562355" + - text: Mutant Kras-induced upregulation of CD24 enhances prostate cancer stemness and bone metastasis + pmids: + - "30467381" + - text: These data underscore a critical sex-specific role for epithelial Stat3 signaling in K-ras mutant Lung adenocarcinomas. + pmids: + - "30389925" + - text: "EGFR and KRAS mutation status was associated with the expression of AKT, p-AKT, DR5, and DcR1 in non-small cell lung cancer" + pmids: + - "28043144" + - text: Pancreatic juice from PDAC patients is rich in KRAS mutations often not seen in the primary tumor and possibly reflecting precancerous lesions in other regions of the pancreas. The inclusion of TP53 mutation detection and additional markers must therefore be considered for fully exploiting the clinical potential of pancreatic juice samples in early cancer detection + pmids: + - "30611220" + - text: "Gain-of-function mutations in KRAS, FGFR1, and TRPV4 are present in 72% of giant cell lesions of the jaw (GCLJ). TRPV4 mutations induce sustained activation of ERK1/2, indicating that their effects converge with that of KRAS and FGFR1 mutations on the activation of the MAPK pathway in GCLJ." + pmids: + - "30385747" + - text: "This study demonstrated that no significant difference of KRAS status between colon cancer and rectal cancer. KRAS mutation was much more frequent in right-sided colon cancer (RCC) compared with left-sided colon cancer (LCC) and LCC patients with KRAS mutation has a poor prognosis compared with KRAS wild type, but RCC patients did not show the similar effect." + pmids: + - "30917791" + - text: KRAS rare codons inhibit both translation efficiency and transcription. Common codons increase transcriptional rates. Codon usage can affect KRAS protein conformation. + pmids: + - "30275015" + - text: These data highlight that MAPK7 represents a promising target for combination treatment with MEK inhibition in KRAS mutant Non Small Cell Lung Carcinoma. + pmids: + - "29912950" + - text: The present study shows that the regulation of KRAS expression by IMP1 is complex and may involve both the IMP1 protein and its mRNA transcript. + pmids: + - "30104206" + - text: "the data indicated that the miR1433p/kRas/Raf/MEK/ERK axis serves a key regulator in the development and progression of laryngeal squamous cell carcinoma (LSCC), suggesting that miR1433p may be a potential prognostic biomarker and therapeutic target in the treatment of LSCC" + pmids: + - "30535502" + - text: "A non to light smoking habit might contribute to an improvement in prognosis that is equivalent to that of wild-type KRAS, and p53 mutation did not affect survival in smokers harboring KRAS codon 12." + pmids: + - "30223391" + - text: "A dual specificity phosphatase, DUSP6, that negatively regulates phosphorylation of (P)-ERK is up-regulated in EGFR- or KRAS-mutant lung adenocarcinoma (LUAD), potentially protecting cells with mutations in the RAS signaling pathway, a proposal supported by experiments with DUSP6-specific siRNA and an inhibitory drug" + pmids: + - "30475204" + - text: G12D and G12C mutations in the KRAS gene are associated with cases of tubular apocrine adenoma (TAA). + pmids: + - "29241739" + - text: "studies strongly suggest that posttranslational modification(s), including sumoylation mediated by Lys-42, plays a crucial role in K-Ras activities in vivo." + pmids: + - "30228186" + - text: "Postzygotic KRAS mutation is associated with Schimmelpenning syndrome presenting with lipomatosis, renovascular hypertension, and diabetes mellitus." + pmids: + - "30443000" + - text: KRAS Mutation is associated with Recurrence in Colorectal Cancer Liver Metastases. + pmids: + - "29786130" + - text: Mutations in the KRAS gene are associated with invasiveness of implants and a poorer prognosis in patients with serous borderline tumor or atypical proliferative serous tumor. + pmids: + - "29027536" + - text: RAS mutations in acute myeloid leukaemia patients + pmids: + - "30194935" + - text: High KRAS expression is associated with melanoma. + pmids: + - "29495114" + - text: No young-age colorectal cancer patients contained a BRAF mutation compared with 46 (10.6%) of 434 in older-age cancer patients (p < 0.001). KRAS mutations were less common in young cancers compared with older cancers (13/57 (22.8%) vs 126/410 (30.7%); p < 0.01). Eleven (19.3%) of 57 young cancers were proximal compared with 228 (51.8%) of 440 (p < 0.001) older cancers. + pmids: + - "30394984" + - text: Mutations that confer resistance in cancer are even less likely to occur downstream of KRAS than to occur within KRAS. + pmids: + - "29453361" + - text: "Cecal adenocarcinomas are characterized by a high frequency of KRAS mutations compared with noncecal right colon tumors, frequently display high tumor budding, and this may be a prognostically relevant variable, particularly in patients with stage III or IV disease." + pmids: + - "29240583" + - text: Mutant KRAS is associated with liver metastasis of colorectal cancer. + pmids: + - "29559746" + - text: KRAS mutation G12D induces protumerogenic phenotype in macrophages and neoplastic structural and phenotypic changes in pancreatic organoids + pmids: + - "29756386" + - text: Associations have been identified between radiological features and clinical features with Epidermal Growth Factor Receptor (EGFR)/ Kirsten RAt Sarcoma (KRAS) alterations in an independent group of patients with Non-Small Cell Lung Cancer (NSCLC). + pmids: + - "30599853" + - text: "Results show that K-Ras has a more substantial population of state 1 in solution than H-Ras, which predominantly favors state 2. The oncogenic mutant K-RasG12D favors state 2, changing the balance of conformational states in favor of interactions with effector proteins." + pmids: + - "29706533" + - text: Post-operative mutations in the KRAS gene identified in cell-free DNA from pancreatic ductal adenocarcinoma patients are associated with significantly earlier recurrence and shorter disease-free survival. + pmids: + - "29360815" + - text: High KRAS expression promotes invasion and metastasis of pancreatic ductal adenocarcinoma. + pmids: + - "29059173" + - text: Wild-type KRAS expression promotes acquired resistance to BRAF inhibition in melanoma. + pmids: + - "29059159" + - text: this study identified a novel mechanism by which oncogenic RAS promotes survival of malignant intestinal epithelial cells. This mechanism is driven by RAS-dependent loss of ATG12 in these cells. + pmids: + - "28933585" + - text: "We conclude that if transfer of functional K-Ras from extracellular vesicles into the cytoplasm of recipient cells occurs, it must do so at an extremely low efficiency and therefore is unlikely to initiate Ras-ERK MAP kinase pathway signaling. These results suggest that studies claiming functional transfer of protein cargoes from exosomes should be interpreted with caution." + pmids: + - "30192821" + - text: "MDM2 amplification in large-duct intrahepatic cholangiocarcinomas is more common than presently considered, and it may represent a unique biliary carcinogenetic process in which KRAS and TP53 mutations are less frequent." + pmids: + - "29309301" + - text: "Stratification of intrahepatic cholangiocarcinoma patients based on occurrence of mutations in three classifier genes (IDH, KRAS, TP53) revealed unique oncogenic programs (mutational, structural, epimutational) that influence pharmacologic response in drug repositioning protocols." + pmids: + - "29278425" + - text: Report recurrent KRAS mutations in mesonephric-like adenocarcinomas of the ovaries/uterus best regarded as of Mullerian origin and representing adenocarcinomas which differentiate along mesonephric lines. + pmids: + - "28984674" + - text: Targeting EGFR ligands may benefit patients who carry EGFR-mutant lung tumors but will not benefit patients with KRAS-mutant lung tumors. + pmids: + - "29662194" + - text: KRAS mutations with Microsatellite Instability is associated with Gastric Cancer. + pmids: + - "29116623" + - text: "These results pinpoint mTOR as a mechanism of resistance to chemotherapy in KRAS-mutant lung cancer and validate a rational and readily translatable strategy that combines mTOR inhibitors with standard chemotherapy to treat KRAS-mutant adenocarcinoma, the most common and deadliest lung cancer subset." + pmids: + - "30171261" + - text: Inhibition of aurora kinases preferentially kills mutant KRAS CRC cells and overcomes KRAS-mediated resistance to anti-EGFR antibodies in vitro and in vivo by restoring PUMA induction. + pmids: + - "29755130" + - text: "In addition, 6 other cancer-associated genes (BRAF, NRAS, HRAS, ERK1, ERK2 and PTEN) were also analyzed. In total, four somatic mutations were identified in three out of 101 ovarian endometriotic lesions (4%, 4/101), including a KRAS p.G12V, a PPP2R1A p.S256F and two ARID1A nonsense mutations (p.Q403* and p.G1926*); while no mutations were identified in the remaining 7 genes (BRAF, NRAS, HRAS, ERK1, ERK2, PTEN and PIK3CA)" + pmids: + - "29547736" + - text: Proscillaridin A as a selective inhibitor of cells harboring the oncogenic KRas(G12V) allele. + pmids: + - "29743592" + - text: "review of the role of KRAS in predicting transition from hyperplastic endometrium to early-stage well-differentiated endometrial cancer, as well as further invasive proliferation of the tumor to advanced-stage disease [review]" + pmids: + - "30711927" + - text: "SHP2 dephosphorylates KRAS, a process that is required to maintain dynamic canonical KRAS GTPase cycle." + pmids: + - "30644389" + - text: "Authors demonstrate that co-occurring KRAS mutation/LKB1 loss in NSCLC cells allowed efficient exploitation of glycolysis and oxidative phosphorylation, when compared to cells with each single oncologic genotype." + pmids: + - "30514331" + - text: "Memory T cells targeting oncogenic mutations in KRAS, SMAD5, and MUC4 detected in peripheral blood of colon cancer patients have been isolated." + pmids: + - "30683863" + - text: "This study unravels an anti-metastatic role of AKT1 in the NSCLC cells with KRAS or EGFR mutations, and establishes an AKT1-MARCKS-LAMC2 feedback loop in this regulation." + pmids: + - "28765579" + - text: "KRAS, SIRT1 and BCL6 are coordinately over-expressed in eutopic endometrium of women with endometriosis" + pmids: + - "28754906" + - text: "KRAS promotes these effects by activating a MAPK-dependent signaling pathway leading to MYC upregulation and transcription of the non-oxidative pentose phosphate pathway (PPP) gene RPIA, which results in nucleotide biosynthesis." + pmids: + - "30470748" + - text: A potential avenue for therapeutic treatment of KRAS-mutant cancers which are otherwise difficult targeted by small molecules. + pmids: + - "30415007" + - text: "Results highlight the differential expression of K-RAS4A and K-RAS4B in advanced adenocarcinoma NSCLC patients and underline the need to further clarify the enigma behind their biological significance in various cancer types, including NSCLC." + pmids: + - "29413054" + - text: "This study provides evidence that germline polymorphisms in VEGFR1, KRAS and ITGAV genes are associated with prognosis in stages II-III colon cancer patients. As stage and tumor location are correlated with prognosis, future genetic studies should stratify colon cancer patients according to these parameters." + pmids: + - "29282362" + - text: "Six mutations located at the BRAF, KRAS, and PIK3CA genes have been detected in colorectal cancer patients using a novel multiplex surface enhanced Raman spectroscopy-multiplex PCR method." + pmids: + - "29556349" + - text: There was a high accordance between KRAS mutation status in EBC-DNA and cancer tissue in NSCLC patients what suggests usefulness of monitoring KRAS mutation in EBC-DNA as a biomarker of NSCLC + pmids: + - "30368666" + - text: molecular dynamics simulation of mutation probabilities of KRAS G12 missense mutants + pmids: + - "30199525" + - text: studies provide mechanistic and biological insights into the role of KRAS dimerization and highlight a role for disruption of dimerization as a therapeutic strategy for KRAS mutant cancers. + pmids: + - "29336889" + - text: We observed that the designed ss-miR-216b mimics engaged AGO2 to promote the silencing of KRAS. We also tested a new delivery strategy based on the use of palmityl-oleyl-phosphatidylcholine (POPC) liposomes functionalized with ss-miR-216b conjugated with two palmityl chains and a lipid-modified cell penetrating peptide . These versatile nanoparticles suppressed oncogenic KRAS in pancreatic ductal adenocarcinoma cells + pmids: + - "30306823" + - text: "MALAT1 acts as a tumour promoter at least in part by binding miR-217 and sequestering the molecule in the nucleus, thereby promoting oncogenic KRAS expression in PDAC." + pmids: + - "28701723" + - text: "Mutations of KRAS and DDR2 were found in large cell carcinoma (LCC) and squamous cell carcinoma (SCC) subtypes, respectively, whereas mutations of TP53 were seen in SCC and lung adenocarcinoma subtypes with higher frequencies and LCC subtype with lower frequency in Iranian patients." + pmids: + - "30048458" + - text: "The results suggest that somatic mutation of hotspot KRAS in codons 12 and 13 is rare in endometriosis, including cases of deep infiltrating endometriosis (DIE) in Korean patients." + pmids: + - "29604100" + - text: Pesticide exposure may play a great role in malignant transformation of urinary bladder cells through mutation in the K-ras gene. + pmids: + - "29644616" + - text: deletion of the oncogenic KRAS allele resulted in enhanced STIM1 expression and greater Ca(2+) influx. + pmids: + - "29748135" + - text: PIP5K1A loss reduces oncogenic KRAS signaling. + pmids: + - "30194290" + - text: GATAD2B interacts with C-MYC to enhance KRAS driven tumor growth. + pmids: + - "30013058" + - text: "the present study demonstrates that miR-422a may serve as a tumor suppressor in osteosarcoma via inhibiting BCL2L2 and KRAS translation both in vitro and in vivo Therefore, miR-422a could be developed as a novel therapeutic target in osteosarcoma." + pmids: + - "29358307" + - text: "our studies demonstrate how KRAS inhibits the tumor suppressor RKIP, thus offering novel justification for targeting RKIP as a strategy to overcome KRAS-induced tumor metastasis and chemoresistance in PDAC." + pmids: + - "29315556" + - text: "This study confirms the tumor suppressor roles of miR-193a-3p, its downstream target affinity to KRAS and clinical significance in patients with colorectal adenocarcinoma." + pmids: + - "29104111" + - text: "in Stage I colorectal cancer presence of KRAS mutations, that of simultaneous mutations in PIK3CA gene, or that of multiple KRAS mutations was significantly associated with shorter cancer specific survival; PIK3CA or multiple KRAS mutations were associated with nodal micrometastases and poorly differentiated clusters G3 as well" + pmids: + - "30018674" + - text: "Inhibition of Wee1 by its specific inhibitor MK1775 in combination with sorafenib restored the KRAS mutated cells' response to the multi-target tyrosine kinase inhibitor." + pmids: + - "29343688" + - text: High FOS-like antigen 1 (FOSL1) expression with mutant KRAS protein lung and pancreatic cancer patients showed the worst survival outcome. + pmids: + - "28220783" + - text: "primary resistance to cetuximab is dependent upon both KRAS mutational status and protein expression level, and acquired resistance is often associated with KRAS(Q61) mutations that function even when protein expression is low." + pmids: + - "28593995" + - text: The HSF1-BAG3-Mcl-1 signal axis is critical for protection of mutant KRAS colon cancer cells from AUY922-induced apoptosis. + pmids: + - "29068469" + - text: Study results indicate that pleural homed cancer cells harboring activating KRAS mutations are competent of malignant pleural effusion induction. This genotype-phenotype link is primarily mediated via mutant KRAS-dependent CCL2 signaling that results in the recruitment of CD11b+Gr1+ myeloid cells to the pleural space. + pmids: + - "28508873" + - text: "Copy number gains were seen in EGFR (two of 23, 13.0%) and in one (4.3%) of each PIK3CA, KRAS, MET and STK11" + pmids: + - "29489023" + - text: Study reveals the novel function of NOX4 in reprogramming aerobic glycolysis initiated by activated Kras and inactivated p16 in pancreatic ductal adenocarcinoma. + pmids: + - "28232723" + - text: "The role of KRAS oncogenic signaling in cancer cells.[review]" + pmids: + - "29263151" + - text: High KRAS expression is associated with Bladder Cancer. + pmids: + - "29321082" + - text: "Studies on the metabolic properties of mutant KRAS protein lung tumors have uncovered unique metabolic features that can potentially be exploited therapeutically [Review]." + pmids: + - "28570035" + - text: Plasma membrane polyphosphoinositides depletion caused rapid translocation of K-Ras4B but not H-Ras from the plasma membrane to the Golgi. + pmids: + - "28939768" + - text: "we used hot-spot mutation sequencing to examine whether KRAS/NRAS mutations, a characteristic feature of mesonephric carcinoma,1 are also present in mesonephric hyperplasia. None of the mesonephric hyperplasia cases harboured a KRAS or NRAS mutation." + pmids: + - "28703285" + - text: KRAS mutations are associated with colorectal liver metastases. + pmids: + - "29937183" + - text: "Our data provide evidence that blocking TfR could significantly inhibit lung adenocarcinoma (LAC) proliferation by targeting the oncogene KRAS; therefore, TfR may be a therapeutic target for LAC. In addition, our results suggest a new method for blocking the signal from the oncogene KRAS by targeting TfR in LAC." + pmids: + - "29286585" + - text: "Results show mutation in Kras was associated with worse survival results in patients with pancreatic neoplasm. [review]" + pmids: + - "30227250" + - text: CFTR exhibited an inhibitory role in the malignancy of lung adenocarcinoma A549 cells + pmids: + - "29526175" + - text: "characteristics of the expression of epidermal growth factor receptor (EGFR), anaplastic lymphoma kinase (ALK), V-Ki-ras2 Kirsten rat sarcoma viral oncogene homologue (KRAS) in non-small cell lung cancer" + pmids: + - "30037374" + - text: "Despite the presence of histological findings indicating long-standing gastroesophageal reflux in 25%, as well as symptomatic gastroesophageal reflux in more than 40%, there was no detectable tissue expression of KRAS or BRAF mutations in adult patients treated for esophageal atresia in childhood." + pmids: + - "28873491" + - text: "The high frequency of KRAS mutation in endometrial atypical hyperplasia with mucinous differentiation, endometrioid carcinoma with mucinous differentiation and mucinous carcinoma indicates that KRAS mutational activation is implicated in the pathogenesis of endometrial mucinous carcinoma." + pmids: + - "30220122" + - text: The frequency of KRAS mutations was significantly higher in Serrated Lesions subgroups with low and intermediate methylated epigenotype tumors and microsatellite stability. + pmids: + - "29974407" + - text: The rate of EGFR mutation was significantly higher in female and non-smoker patients. In TTF-1 positive cases EGFR mutation was more frequent. Age of the patients over 62-year old was correlated with KRAS mutations. The concordance between ALK IHC and FISH was 58.3%. The MET protein in the cases with MET amplification was 100% positive. + pmids: + - "28756651" + - text: the findings demonstrated that mutated K-ras promotes cathepsin L expression and plays a pivotal role in EMT of human lung cancer. The regulatory effect of IR-induced cathepsin L on lung cancer invasion and migration was partially attributed to the Cathepsin L /CUX1-mediated EMT signaling pathway + pmids: + - "29246726" + - text: "These findings collectively suggest that the triple combination of survivin knockdown with ABT-263 and trametinib treatment, may be a potential strategy for the treatment of KRAS-mutant lung adenocarcinoma. Furthermore, our findings indicate that the welldifferentiated type of KRAS-mutant lung tumors depends, at least in part, on TTF1 for growth." + pmids: + - "29658609" + - text: Increased long noncoding RNA HomeoboxA transcript at the distal tip (HOTTIP) expression was associated with poor prognosis independent of KRAS mutation. + pmids: + - "29329159" + - text: "Data show no patient positive for KRAS mutation and/or p53 mutation was found to have malignant transformation, suggesting detection of KRAS or p53 mutation in plasma is not an effective screening tool for pancreatic cancer because accumulation of multiple mutations is required for malignant transformation in the pancreas." + pmids: + - "29303908" + - text: BCL-XL has a role in modulating RAS signalling to favor breast cancer cell stemness + pmids: + - "29066722" + - text: "KRAS is one of the most common mutations in Non-small cell lung cancer. [review]" + pmids: + - "29764594" + - text: "Combination of PCR HRM with either RFLP or direct DNA sequencing was useful to detect K-RAS exon 2 and extended RAS mutations, respectively. Frequency of all RAS mutations in stage IV Indonesian (41%) was similar among Asians (41-49%), which tend to be lower than western (55%) CRC." + pmids: + - "28044264" + - text: "PPARgamma activator, pioglitazone, can activate p21, which is associated with decreased proliferation in 2 aerodigestive preneoplastic cell lines. In addition, the p21 gene may be a potential hypothesis-driven biomarker in translational studies of pioglitazone as a chemoprevention agent for aerodigestive cancer." + pmids: + - "30047791" + - text: "show that mutant KRAS facilitates IKKalpha-mediated responsiveness of tumor cells to host IL-1beta, thereby establishing a host-to-tumor signaling circuit that culminates in inflammatory MPE development and drug resistance" + pmids: + - "29445180" + - text: "In a cohort of patients with pancreatic cysts, KRAS and GNAS mutations had no significant diagnostic benefit in comparison with conventional testing." + pmids: + - "29796909" + - text: "Results reveal that KRAS 3'UTR is a target for miR-19a which overexpression suppresses KRAS expression thus inhibiting angiogenesis in colorectal cancer." + pmids: + - "29207158" + - text: observed that the trend is highly correlative of the rate of change in KRAS mutant DNA concentrations and the period of monitoring + pmids: + - "28956302" + - text: "Mutation frequencies in KRAS exon 3 or 4, NRAS, BRAF, and PIK3CA were 5.5%, 2.7%, 8.3%, and 5.5%, respectively." + pmids: + - "29908105" + - text: "Fluorescence cross-correlation data indicate no direct interaction between C6-ceramide and KRas4B, suggesting that KRas4B essentially recruits other lipids. A FRET-based binding assay reveals that the stability of KRas4B proteins inserted into the membrane containing C6-ceramide is reduced." + pmids: + - "29357287" + - text: Identification of KRAS/NRAS/BRAF mutation status is crucial to predict the therapeutic effect and determine individual therapeutic strategies for patients with colorectal cancer. + pmids: + - "29335867" + - text: KRAS mutation was significantly associated with tumor size + pmids: + - "29103773" + - text: Our finding of frequent KRAS mutation in urachal adenocarcinoma suggests its potential role in the oncogenesis of this neoplasm + pmids: + - "28285720" + - text: a low frequency of BRAF or KRAS mutation in Chinese patients with low-grade serous carcinoma of the ovary + pmids: + - "29273082" + - text: "The authors report that one of the K-Ras splice variants, K-Ras4a, is subject to lysine fatty acylation, a previously under-studied protein post-translational modification. Sirtuin 2 (SIRT2), one of the mammalian nicotinamide adenine dinucleotide (NAD)-dependent lysine deacylases, catalyzes the removal of fatty acylation from K-Ras4a." + pmids: + - "29239724" + - text: "Data indicate that absence of KRAS, TP53 and SMAD4 genetic alterations may identify a subset of pancreatic carcinomas with better outcome." + pmids: + - "29103024" + - text: "Proteoforms with or without the Gly13Asp mutation (G13D) in the KRAS4b isoform were studied in isogenic KRAS colorectal cancer (CRC) cell lines and patient CRC tumors with matching KRAS genotypes. In 2 cellular models, a direct link between knockout of the mutant G13D allele and complete nitrosylation of cysteine 118 of the remaining WT KRAS4b was observed. Major differences in C-terminal carboxymethylation were seen." + pmids: + - "29610327" + - text: "GNAS mutation is a highly specific test for IPMN. When GNAS testing is added to CEA and KRAS, a significantly greater overall accuracy (86.2%) is achieved." + pmids: + - "27514845" + - text: "Knowing the mutation status of KRAS, BRAF or PIK3CA in stage II colorectal cancer can significantly improve the accuracy of prognoses." + pmids: + - "28685592" + - text: KRAS mutations were predominant in non-Squamous cell carcinomas of the cervix and were associated with HPV 18 infection. A combination of KRAS mutation detection and HPV genotyping would be useful in identifying patient with poor prognosis for further interventions. + pmids: + - "29185262" + - text: KRAS mutation is associated with pancreatic cancer. + pmids: + - "29851957" + - text: "Of 106 KRAS protein (KRAS) mutations detected in 171 pancreatic juice samples, 58 were detected in the 5-minute samples, 70 mutations were detected in the 10-minute samples, and 65 were detected in the 15-minute samples." + pmids: + - "29200129" + - text: "We have investigated if the initial source of intratumoral heterogeneity is consequent to multiple independent lineages derived from different crypts harboring distinct truncal APC and driver KRAS mutations, thus challenging the prevailing monoclonal monocryptal model." + pmids: + - "28645942" + - text: KRAS mutations were only associated with risk of death. + pmids: + - "29223986" + - text: "we have found that a subgroup of colorectal cancers, defined by having either KRAS or BRAF (KRAS/BRAF) mutations and BCL2L1 (encoding BCL-XL) amplification, can be effectively targeted by simultaneous inhibition of BCL-XL (with ABT-263) and MCL1 (with YM-155)." + pmids: + - "28611106" + - text: the resveratrol derivative did not affect the growth of HKe3 cell spheroids derived from HCT116 cells by disruption of the activating mutant KRAS gene. These results suggest that the resveratrol derivative inhibits the growth of HCT116 cell spheroids via inhibition of an oncogenic KRAS-mediated signaling pathway. + pmids: + - "28936721" + - text: Kras regulates circular RNA in colon cancer cells. + pmids: + - "27892494" + - text: these results suggest that aspirin inhibited human uterine leiomyoma cell growth by regulating KRasp110alpha interaction. Aspirin which targeting on interaction between K-Ras and p110alpha may serve as a new therapeutic drug for uterine leiomyoma treatment. + pmids: + - "28849118" + - text: "These data reveal previously unknown genomic diversity among KrasG12D-initiated GEMM tumors, places them in context of human patients, and demonstrates how to exploit this inherent tumor heterogeneity to discover therapeutic vulnerabilities." + pmids: + - "29203670" + - text: "Digital droplet PCR reliably detects KRAS G12D mutations in stool-derived DNA from colorectal cancer patients, especially at early stages." + pmids: + - "29093617" + - text: "results thus provide the first detailed insight into the multiplicity, structure, and membrane organization of K-Ras homomers" + pmids: + - "28863262" + - text: Programmed cell death 1 ligand 1 protein (PD-L1) expression significantly correlates with overall mutational load and KRAS protein mutational status in pulmonary sarcomatoid carcinomas. + pmids: + - "29110857" + - text: Our findings showed BRAF and/or KRAS mutations in three of seven cases of low-grade serous neoplasms of the testis + pmids: + - "28543997" + - text: "Intratumoral heterogeneity of the KRAS mutational status is rare in pancreatic ductal adenocarcinoma. In addition, no KRAS heterogeneity between primary tumors and metastatic lymph nodes was detected in this study." + pmids: + - "26967456" + - text: ALK and KRAS mutations are associated with acquired resistance to crizotinib in ALK-positive non-small cell lung cancer + pmids: + - "28601386" + - text: "Altogether, these data show that humanized anti-progastrin antibodies might represent a potential new treatment for K-RAS-mutated colorectal patients, for which there is a crucial unmet medical need" + pmids: + - "28600477" + - text: "longitudinal monitoring of urine specimens showed an increase in the quantity of mutant KRAS transrenal DNA, which were highly associated with disease progression and outcome." + pmids: + - "27998182" + - text: "The presence of KRAS mutations did not enrich for the activation of IL-6, JAK1 or phosphorylated STAT3 in resected lung adenocarcinoma." + pmids: + - "28879441" + - text: "Due to the discordant results (GGT->GTT exon 2 KRAS mutation in the primary tumor, and KRAS-WT in the liver metastases), mutational analysis on liver metastasis was repeated using next-generation sequencing and enriching the sample in tumor cells by manual microdissection; the same type of mutation of the primary tumor (GGT->GTT exon 2 KRAS gene) was confirmed" + pmids: + - "28665451" + - text: KRAS mutations appear to be major driver genetic alterations in both liver and pancreatic mucinous cystic neoplasms (MCNs). + pmids: + - "28570009" + - text: Circulating tumor DNA may serve as a viable alternative to tissue analysis for the detection of KRAS mutations in colorectal cancer + pmids: + - "28885658" + - text: "Collection of transrenal DNA, being noninvasive, is an attractive assay and easily allows serial monitoring of the disease. Results from preoperative detection showed a close correlation to tumor tissue profiling and demonstrated close associations to the disease. We also observed significant decreases in mutant KRAS DNA concentration after surgery, which confirmed transrenal DNA's sensitivity to treatment response." + pmids: + - "28708207" + - text: "Expression of Ki-67, p53 and K-ras in the intestinal mucosa was detected by immunohistochemistry and quantitative real-time polymerase chain reaction (qRT-PCR), respectively. 1.03% patients (n = 7) underwent polypectomy was confirmed to be the early stage of Colorectal cancer (CRC). Histological analysis for expression of p53 and K-ras can guarantee to screen the early stage of CRC." + pmids: + - "29104470" + - text: Deciphering KRAS and NRAS mutated clone dynamics in MLL-AF4 paediatric leukaemia by ultra deep sequencing analysis. + pmids: + - "27698462" + - text: "these results describe a novel mechanism governing PRKD1 gene expression in pancreatic ductal adenocarcinoma and provide a functional link between oncogenic KRas, NF-kappaB and expression of PRKD1." + pmids: + - "27649783" + - text: Data suggest that the co-existence of KRAS mutations and high MYC expression predicts anti-mitotic drug sensitivity. + pmids: + - "27412232" + - text: "activated Ras, protumorigenic COX-2 and Notch1 have roles in in papillary mucinous neoplasm onset" + pmids: + - "27381829" + - text: "while telomere length did not correlate with the presence of a mutation in BRAF (V-raf murine sarcoma viral oncogene homolog B), PIK3CA (phosphatidylinositol 3-kinase catalytic subunit), or MSI status, it was significantly associated with the occurrence of a mutation in KRAS" + pmids: + - "28850092" + - text: "Exposure to cetuximab and various concentration of AG490, an inhibitor of JAK2, STAT3 and HSP27 protein levels, except in the KRAS G12V mutant line, SW620...cetuximab may promote SN38 sensitivity via suppression of HSP27, through blocking the JAK/STAT signaling pathway, and shows synergistic effects when combined with SN38 in wild-type RAS CRC cells." + pmids: + - "28656305" + - text: "In this study we report a new delivery strategy for a G4-decoy oligonucleotide that sequesters MAZ, a transcription factor essential for KRAS transcription. It is based on the use of palmitoyl-oleyl-phosphatidylcholine (POPC) liposomes functionalized with lipid-modified G4-decoy oligonucleotides and a lipid-modified cell penetrating TAT peptide" + pmids: + - "27929127" + - text: These findings suggest that future trials of everolimus in biliary tract cancer would benefit from preselecting patients based on their K-Ras and PI3K/mTOR pathway activation status. + pmids: + - "28544747" + - text: "Our up-to-date review discusses CaM's role in PI3K signaling at the membrane in KRAS-driven cancers. This is significant since it may help development of K-Ras-specific pharmacology." + pmids: + - "28462395" + - text: we detected mutually exclusive KRAS and MAP2K1 mutations in one-third of cases of Rosai-Dorfman disease + pmids: + - "28664935" + - text: "Human and mouse studies reveal that different gene dosages of an activating KRAS mutation are critical determinants of pancreatic cancer biology, including early progression, metastasis, histopathology, cellular plasticity and clinical aggressiveness." + pmids: + - "29364867" + - text: "Our results demonstrated increased expression of both K-Ras mRNA splicing variants in leiomyoma tissue. However, the ultimate result of KRAS expression on leiomyoma development depends on the overall KRAS isoform balance and, consequently, on activated signaling pathways." + pmids: + - "28122482" + - text: observations add to a body of evidence suggesting that HRAS and KRAS show meaningful differences in functionality stemming from differential protein dynamics independent of the hypervariable region + pmids: + - "29235861" + - text: KRAS and BRAF mutations are negatively associated with overall and relapse-free survival in patients who undergo complete liver resection for colorectal cancer liver metastases + pmids: + - "28216246" + - text: "study is the first to identify driver-follower relationships in correlated motions of K-Ras residue pairs, revealing the direction of information flow during allosteric modulation of its nucleotide-dependent intrinsic activity: active K-Ras Switch-II region motions drive Switch-I region motions, while alpha-helix-3L7 motions control both." + pmids: + - "27845397" + - text: "The present case series suggests that the incidence of concomitant KRAS/BRAF mutations in patients with surgically treated colorectal liver metastasis may be higher than previously hypothesized, and associated with more variable survival outcomes than expected." + pmids: + - "29715113" + - text: The high incidence of KRAS mutations in papillary mucinous metaplasia suggests that papillary mucinous metaplasia may be a precancerous lesion of a certain subset of mucinous carcinomas of the endometrium + pmids: + - "29715099" + - text: "in vitro results showed that the repression of KRAS by miR-16 suppressed the proliferation and invasion and induced the apoptosis of colorectal cancer (CRC) cells, and the in vivo results revealed that miR-16 exerted a tumor-suppressive effect by negatively regulating KRAS in xenograft mice. Taken together, our findings provide evidence supporting the role of miR-16 as a tumor suppressor in CRC by targeting KRAS" + pmids: + - "27857191" + - text: k-RAS gene mutation status was associated with the response of Gefitinib treatment in patients with nonsmall-cell lung cancer + pmids: + - "28901317" + - text: "we demonstrate that oncogenic p110alphaH1047R, K-RasG12V, H-RasG12V, and Her2 use a common Akt1-FOXO3a pathway in suppression of DeltaNp63alpha expression and, consequently, promote cell migration/invasion and tumor metastasis. Thus, DeltaNp63alpha may function as a critical integrator of oncogenic signals in cell motility and cancer metastasis." + pmids: + - "28468801" + - text: "In the colorectal biopsies from 50 patients with suspected colorectal cancer, 18 cases (36%) contained mutant KRAS, and the amount of mutant DNA accounted for 18.664.2% of the total DNA." + pmids: + - "28677778" + - text: "KRAS mutation patterns in Sri Lankan metastatic colorectal cancer: p.Gly13Asp (40.0%), p.Gly12Val (24.0%),p.Gly12Cys (12.0%), p.Gly12Ser (12.0%), p.Gly12Asp (8.0%), and p.Gly12Arg (4.0%). The codon 13 mutation was a G>A transition (40.0%), while G>T transversions (32.0%), G>A transitions (24.0%), and G>C transversions (4.0%) were found in the codon 12 mutations." + pmids: + - "28797274" + - text: "It is unclear if we may have seen greater clinical activity if we were able to fully inhibit Src in this study, but given the requirement that enrolling patients have documented disease progression on cetuximab, acquired resistant KRAS-mutant clones may have been present, limiting future strategies to reverse EGFR resistance" + pmids: + - "28280091" + - text: "KRAS is associated with activation of ERK2, induction of FASN, and promotion of lipogenesis." + pmids: + - "28400509" + - text: These results indicated that ASCT2 (SLC1A5) could be a novel therapeutic target against KRAS-mutant colorectal cancer. + pmids: + - "28749408" + - text: "Authors analyzed 421 samples from CLM patients for their all-RAS mutation status to compare the overall survival rate (OS), recurrence-free survival rate (RFS), and the pattern of recurrence between the patients with and without RAS mutations." + pmids: + - "29194647" + - text: "A quantitative, mutation-enrichment next-generation sequencing test for detecting KRAS(G12/G13) mutations in urine cfDNA had good concordance with testing of archival tumor tissue. Changes in mutated urine cfDNA were associated with time to treatment failure." + pmids: + - "28096270" + - text: "Findings indicate neurofibromin 1 (NF1) as the most frequently occurring driver mutation in mucosal melanoma, and RAS alterations, consisting of NRAS and KRAS mutations, were the second most frequent mutation type." + pmids: + - "28380455" + - text: AFR3 cells harbored the secondary EGFR mutation T790M. Our findings constitute the first report showing acquired wild-type KRAS overexpression and attenuation of afatinib resistance following a drug holiday. The heterogeneous mechanisms of afatinib resistance should facilitate the development of more effective therapeutic strategies for non-small cell lung cancer patients + pmids: + - "28289161" + - text: that conventional cytology from Endoscopic ultrasound-guided fine-needle aspiration samples is highly specific for the diagnosis of KRAS mutation in pancreatic cancer + pmids: + - "28450086" + - text: KRAS Polymorphism is associated with recurrence in non-small cell lung cancer. + pmids: + - "28150169" + - text: The study results improve our understanding of the ATMIN-KRas axis leading to HNSCC migration or invasion and metastasis and facilitates the identification of possible therapy targets of downstream genes for designing effective therapeutic strategies in personalized medicine + pmids: + - "28012797" + - text: miR-450b-5p induced by oncogenic KRAS is required for colorectal cancer progression + pmids: + - "27494869" + - text: "BRAF mutation, rather than KRAS, was a significant prognostic factor in Korean colorectal cancer patients at both early and advanced stages." + pmids: + - "28583095" + - text: The critical roles of miR-30a and ME1 in the development of KRAS-mutant colorectal cancer indicate therapy potentials for this subtype of cancer. + pmids: + - "28475173" + - text: "The lack of KRAS, NRAS, BRAF, and PIK3CA mutation in our study may suggest that a subset of eyelid sebaceous carcinomas is unlike that of eyelid sebaceous carcinomas of western countries." + pmids: + - "28551389" + - text: "The model we propose is a variation of the currently existing model and hypothesizes that, in a subgroup of colorectal carcinomas, K-ras mutation may precede APC inactivation, representing the earliest driving force and, probably, an early biomarker of colorectal carcinogenesis." + pmids: + - "28652417" + - text: G12C mutation associated with reduced progression-free survival in non-small cell lung cancer treated with pemetrexed + pmids: + - "28407465" + - text: This work provides evidence that TP53 and KRAS mutation in lung adenocarcinoma may be served as a pair of potential predictive factors in guiding anti-PD-1/PD-L1 immunotherapy + pmids: + - "28039262" + - text: "KRAS exon 2 codon 13 mutations, compared to codon 12 mutations, seem to be associated with better outcomes following lung metastasectomy in colorectal cancer" + pmids: + - "27911859" + - text: analysis of K-RAS and N-RAS mutations in testicular germ cell tumors + pmids: + - "28426398" + - text: "KRAS mutations were rarely found together and those in codons 12 and 13 conferred poor prognosis. For BRAF, more c.1781A>G (p.D594G) colorectal cancers (CRC)carried RAS mutations [14% (3/21)] compared with c.1799T>A (p.V600E) CRCs.For NRAS, 5% (3/60) of codon 61 mutant colorectal cancers had KRAS mutations compared with 44% (10/23) of codons 12 and 13 mutant colorectal cancers" + pmids: + - "27815357" + - text: The mutation rate of EGFR in stag I-IIIa NSCLC patients was lower than that in advanced NSCLC patients. And the percentage of the NSCLC patients with EGFR-KRAS double mutations is 0.9%. + pmids: + - "28935015" + - text: "KRAS mutations were present in all high-grade (HG) lesions, suggesting that this gene has an important role in the pathogenesis of pancreatic adenocarcinomas arising from mucinous cystic neoplasm (MCN)." + pmids: + - "28196015" + - text: Data suggest a role of XIST- correlated small RNA XPi2 in modulating the G-quadruplex formation which may play some essential roles in the KRAS- associated carcinogenesis. + pmids: + - "27880931" + - text: "Our data suggest that Kras mutations increase telomerase activity and telomere length by activating the RAS/MEK pathway, which contributes to an aggressive phenotype of NSCLC." + pmids: + - "27329725" + - text: "Mutations in each of the KRAS, CDKN2A, TP53, and SMAD4 genes were not associated with overall survival." + pmids: + - "28099251" + - text: "KRAS mutation analysis with PNAClamptrade mark technique using washing fluid from EUS-FNA along with cytological examination may not only improve the diagnostic accuracy of PDACs, but also establish the platform using genetic analysis which would be helpful as diagnostic modality for PDACs." + pmids: + - "27974679" + - text: KRAS mutations in ctDNA indicated a worse PFS and OS in patients treated by chemotherapy. + pmids: + - "28430611" + - text: "A panRAF inhibitor, LY3009120, potently inhibited proliferation and tumor growth in BRAF/KRAS mutated colorectal tumors." + pmids: + - "27999210" + - text: KRAS and PIK3CA genotype may be considered as negative predictive markers and should carry out the analysis expeditiously. + pmids: + - "26033401" + - text: "microRNA expression profiles had clinicopathological implications that were related to EGFR and KRAS mutations, as well as ALK-rearrangement in lung adenocarcinoma." + pmids: + - "28035073" + - text: Generated multiple mutant KRAS-driven cancer cell lines with acquired resistance to the purine-scaffold HSP90 inhibitor PU-H71. Report a Y142N missense mutation in the ATP-binding domain of HSP90alpha that co-occurred with amplification of the HSP90AA1 locus in resistant cells. + pmids: + - "28032595" + - text: KRAS mutation is associated with Colorectal Liver Metastases. + pmids: + - "27016292" + - text: KRAS mutation is associated with lymph node metastasis in Rectal Cancer. + pmids: + - "27020587" + - text: recombinantly tailored beta-defensin can intensively enter into the K-Ras mutant pancreatic cancer cells through macropinocytosis-mediated process + pmids: + - "27517152" + - text: "KRAS mutation is associated with poor relapse-free-survival, but not with overall survival in patients with ampullary adenocarcinoma.[meta-analysis]" + pmids: + - "27517148" + - text: KRAS mutation could induce PD-L1 expression through p-ERK signaling in lung adenocarcinoma + pmids: + - "28451792" + - text: Mutation analysis Iindicate NRAS as the most commonly mutated gene in myeloma patients followed by KRAS ( and BRAF. + pmids: + - "27634910" + - text: KRAS point mutations are associated lung cancer. + pmids: + - "26992209" + - text: Co-targeting translation and proteasome using the combination of Episilvestrol and Bortezomib promoted strong endoplasmic reticulum stress and rapid killing of colon cancer cells with KRAS/BRAF mutations. + pmids: + - "28030835" + - text: "Report targeted analysis of KRAS, BRAF and PIK3CA mutations in circulating tumor cells captured by a label-free platform and compare to expression in primary tumor tissue and metastases." + pmids: + - "27863403" + - text: The in vitro and in vivo inhibitory effect of zoledronic acid was based on the blockade of cell cycle in wild type KRAS-expressing human non-small cell lung cancer cells. + pmids: + - "27780929" + - text: RAS-driven tumors induce PI3K/AKT-dependent beta-catenin activation + pmids: + - "27384483" + - text: Report screening of KRAS mutations in plasma samples from pancreatic cancer patients. + pmids: + - "27705932" + - text: "Our studies offer a way forward for Hsp90 inhibitors through the rational design of Hsp90 inhibitor combinations that may prevent and/or overcome resistance to Hsp90 inhibitors, providing an effective therapeutic strategy for KRAS-mutant non-small cell lung cancer ." + pmids: + - "28167505" + - text: this study shows that miR-384 inhibits human colorectal cancer metastasis by targeting KRAS and CDC42 + pmids: + - "27769041" + - text: "Using the system, we detected Circulating tumor cells (CTCs) heterozygosity and heterogeneity in KRAS status among CTCs within a patient and between CTCs and tumor tissues" + pmids: + - "28468669" + - text: "The G12A mutation reduces intrinsic K-Ras GTP hydrolysis by an unexplained mechanism.Study reports crystal structures of G12A K-Ras in complex with GDP, GTP, GTPgammaS and GppNHp, and of Q61A K-Ras in complex with GDP, G12A K-Ras-GTP complex, the switch I region undergoes a significant reorganization such that the Tyr32 side chain points towards the GTP-binding pocket and forms a hydrogen bond to the GTP gamma-phosphate." + pmids: + - "29199977" + - text: "Kras mutation appears to be one of the imperative events in the ovarian mucinous adenoma-borderline tumor-carcinoma sequence, as increased numbers of Kras mutations have been shown to be the strongest predictor of unequivocal malignancy in ovarian mucinous neoplasms." + pmids: + - "27888800" + - text: KRAS Mutation is associated with Recurrence in rectal cancer. + pmids: + - "26786089" + - text: "KY1022, a small molecule that destabilizes both beta-catenin and Ras by targeting the Wnt/beta-catenin pathway, inhibitits cellular events, including epithelial mesenchymal transformation, an initial process of metastasis, and apoptosis in colorectal cancer cells." + pmids: + - "27835580" + - text: The addition of simtuzumab to FOLFIRI did not improve clinical outcomes in patients with metastatic KRAS mutant colorectal carcinoma + pmids: + - "28246207" + - text: The present study demonstrated that pathological stage I adenocarcinoma harboring EGFR and K-ras gene mutations have distinct clinicopathological features. The presence of these mutations alone were not prognostic factors in patients with resected pathological stage I adenocarcinoma. + pmids: + - "28322512" + - text: "Results indicate that specific inhibition of PI3K p110alpha could provide an alternative therapeutic approach for colorectal cancer (CRC) patients, particularly those harboring KRAS mutations." + pmids: + - "27602501" + - text: "Reduced insulin receptor substrate-1 (IRS-1) staining in lung adenocarcinoma tissue microarray displayed a significant survival disadvantage, especially within the Kirsten rat sarcoma viral oncogene homolog (KRAS) mutant subgroup." + pmids: + - "27439864" + - text: "Serrated lesions of the appendix are frequently found in serrated polyposis patients and are most commonly of SSA-type morphology, frequently associated with KRAS mutation." + pmids: + - "27020206" + - text: The expression level of KTRAS was positively correlated to the activity of ERK pathway in glioma cell proliferation. + pmids: + - "26732596" + - text: The gene signatures identified a different patient population for MEK inhibitor treatment compared with KRAS mutation testing. The predictive power of the MEK signature should be studied further in clinical trials + pmids: + - "27733477" + - text: "These results suggest that cetuximab treatment in combination with IL-21 adjuvant therapy in patients with EGFR-positive pancreatic cancer results in significant NK cell activation, irrespective of KRAS mutation status, and may be a potential therapeutic strategy" + pmids: + - "27435400" + - text: MEK inhibition in KRas mutant cells results in activation of ER signaling and prevents the abrogation of signaling through ERK1/2 and p90RSK that is achieved in KRas wild-type EC cells. + pmids: + - "28498246" + - text: "describes practical clinico-pathological specifications to optimize RAS ctDNA determination. Moreover, OncoBEAMtrade mark is useful to monitor RAS in patients undergoing systemic therapy to detect resistance and evaluate the efficacy of particular treatments" + pmids: + - "28419195" + - text: Data show that Williams-Beuren syndrome transcription factor (WSTF) release was mediated by neuregulin-3 (NRG3) following KRASG12V expression in intestinal epithelial cells. + pmids: + - "27449290" + - text: our findings provide support for an autocrine signaling loop engaged by oncogenic K-Ras involving ErbB3 that contributes to the dedifferentiation of the intestinal epithelium during tumor initiation and progression. + pmids: + - "27447549" + - text: The KRAS mutation was associated with Depression severity and higher rates of probable Depression in older Metastatic Colorectal Cancer patients.( + pmids: + - "27468967" + - text: We identified activating KRAS mutations in the majority of tissue samples of arteriovenous malformations of the brain that we analyzed. We propose that these malformations develop as a result of KRAS-induced activation of the MAPK-ERK signaling pathway in brain endothelial cells. + pmids: + - "29298116" + - text: ACSL3 is essential for mutant KRAS lung cancer tumorigenesis in vivo and is highly expressed in human lung cancer + pmids: + - "27477280" + - text: "Mutational activation of Kit-, Ras/Raf/Erk- and Akt- pathways indicate the biological importance of these pathways and their components as potential targets for therapy." + pmids: + - "27391150" + - text: "Data indicate acquired KRAS, NRAS or HRAS mutations in more than one third of patients after cetuximab exposure." + pmids: + - "27119512" + - text: "Mutational status of NRAS, KRAS, and PTPN11 genes is associated with genetic/cytogenetic features in children with B-precursor acute lymphoblastic leukemia." + pmids: + - "28853218" + - text: Mutations in KRAS and BRAF were associated with inferior PFS and OS of mCRC patients compared with patients with non-mutated tumors. KRAS exon 2 mutation variants were associated with heterogeneous outcome compared with unmutated tumors with KRAS G12C and G13D (trend) being associated with rather poor survival + pmids: + - "27358379" + - text: "Mechanistically, increased KRAS expression induced ROS production, which elevated HIF-1alpha and YAP1 expression. Increased HIF-1alpha persistently promoted DDX3 expression via a KRAS/ROS/HIF-1alpha feedback loop." + pmids: + - "28435452" + - text: "The results demonstrated the lack of activity of anti-EGFRs in RAS(KRAS and NRAS) and BRAF wild-type, right-sided tumors, thus suggesting a potential role for primary tumor location in driving treatment choices" + pmids: + - "27382031" + - text: provide a rationale for stratification of human patients with lung cancer harboring KRAS/KEAP1- or KRAS/NRF2-mutant lung tumors as likely to respond to glutaminase inhibition + pmids: + - "28967920" + - text: "These analyses revealed similar efficacy and safety among patient subgroups with differing KRAS mutation status, longer or shorter first-line TTP, and age. Ramucirumab is a beneficial addition to second-line FOLFIRI treatment for a wide range of patients with metastatic colorectal carcinoma" + pmids: + - "27573561" + - text: RAS signaling can upregulate tumor cell PD-L1 expression through a mechanism involving increases in PD-L1 mRNA stability via modulation of the AU-rich element-binding protein tristetraprolin. + pmids: + - "29246442" + - text: To examine the relation of carcinoembryonic antigen (CEA) response with tumor response and survival in patients with (K)RAS wild-type metastatic colorectal cancer receiving first-line chemotherapy in the FIRE-3 trial comparing FOLFIRI plus cetuximab versus FOLFIRI plus bevacizumab + pmids: + - "27234640" + - text: "RAS and GNAS mutations were associated with worse progression-free survival (PFS) at univariate analysis (P = 0.006 and 0.011, respectively). At multivariate analysis, only KRAS mutations were independently associated with PFS (P = 0.012); GNAS mutations were not-being significantly associated with other poor prognostic features such as incomplete cytoreduction or KRAS mutations" + pmids: + - "27502722" + - text: "mutant KRAS can be bypassed by L-ascorbic acid in an SVCT-2-dependent manner. Furthermore, SVCT-2 in mutant KRAS colon cancer may act as a potent marker for potentiating L-ascorbic acid co-treatment with cetuximab." + pmids: + - "27012422" + - text: Multiplex detection of KRASG12/G13 mutations in a small amount of unamplified plasma cfDNA using ddPCR has good sensitivity and specificity and good concordance with conventional clinical mutation testing of archival specimens. A higher percentage of mutant KRASG12/G13 in cfDNA corresponded with shorter survival + pmids: + - "27993791" + - text: "In multivariate analysis, KRAS mutation was associated with poor prognosis." + pmids: + - "27133754" + - text: Mucinous cyst neoplasms (MCNs) more frequently have KRAS mutations and higher risk of malignant progression. + pmids: + - "29187496" + - text: "KRAS mutations may, in part, drive the histologic progression of colorectal adenomas toward a villous histology and higher grades of dysplasia" + pmids: + - "26910894" + - text: "findings indicate that multiple cis-regulatory motifs in the 3' UTR of KRAS finely modulate its expression, and sequence alterations within a binding motif may disrupt the precise functions of trans-regulatory factors, potentially leading to aberrant KRAS expression" + pmids: + - "26930719" + - text: "Our data suggest that KRAS, NRAS, and BRAF mutations predict response to cetuximab treatment in metastatic colorectal cancer patients." + pmids: + - "26989027" + - text: "Data show that KRAS, MTA1 and HMGA2 are direct targets of miR-543." + pmids: + - "26968810" + - text: "Tumor cell content was not associated with mutational rate for EGFR, BRAF and HER2 mutations. DNA quantity was not associated with mutational rate for EGFR, KRAS, BRAF and HER2" + pmids: + - "29175303" + - text: "KRAS codon 12 mutations were detected in 23 of 30 fine-needle aspiration (FNA) specimens (77%) compared with 17 of 30 matched formalin-fixed, paraffin-embedded (FFPE) specimens (57%), for a concordance rate of 74%." + pmids: + - "29024530" + - text: we showed that combination therapy with low concentrations of sorafenib and betulinic acid had the capacity to induce high levels of cell death and abolish clonogenic activity in some non-small cell lung cancer cell lines regardless of KRAS mutations. + pmids: + - "28846180" + - text: Transgenic mouse line expressing the human Ki-Ras bearing an activating mutation (Ki-Ras((G12V))) selectively in the mammary epithelium develop estrogen receptor alpha (ERalpha)-positive ductal adenocarcinomas with 100% incidence within 3-9 months after Ki-Ras((G12V)) induction. + pmids: + - "28745321" + - text: we describe patients with craniosynostosis and Noonan syndrome due to de novo mutations in PTPN11 and patients with craniosynostosis and CFC syndrome due to de novo mutations in BRAF or KRAS. All of these patients had cranial deformities in addition to the typical phenotypes of CFC syndrome and Noonan syndrome. + pmids: + - "28650561" + - text: "Mutations in KRAS, NRAS, and BRAF together occur in more than half of all colorectal cancer cases and are often associated with negative responses to the EGFR inhibitors cetuximab and panitumumab.guideline is clear that we should not be giving EGFR inhibitors to patients with RAS mutations and that patients with BRAF V600E mutations have a much worse prognosis" + pmids: + - "28249840" + - text: Ras inhibitor Kobe0065 prevents lung metastasis through inhibition of the Ras-PI3K-Akt-HIF-1alpha-LOX signaling. + pmids: + - "28951129" + - text: Taken together these data support a model where PDHK4 regulates KRAS signalling and its tumorigenic properties and suggest that inhibition of PDHK4 could represent a novel therapeutic strategy to target KRAS mutant colorectal and lung cancers + pmids: + - "28692044" + - text: ALK/EGFR mutational co-alterations are associated with response to chemotherapy in Non-Small Cell Lung Cancer. + pmids: + - "28007627" + - text: KRAS mutation is associated with lung adenocarcinoma. + pmids: + - "28934759" + - text: KRAS mutation is associated with response to therapy in rectal cancer. + pmids: + - "28859058" + - text: "Study shows that during the development and progression of pancreatic cancer, oncogenic KRas causes metabolic changes that lead to increased generation of mitochondrial reactive oxygen species." + pmids: + - "27215184" + - text: KRAS mutation is associated with response to chemotherapy in metastatic colorectal cancer. + pmids: + - "28068936" + - text: analysis provides further information on the mutational profiles of pulmonary sarcomatoid carcinoma and demonstrates for the first time a role of KRAS mutations in driving the aggressiveness of this type of cancer + pmids: + - "27156442" + - text: KRAS mutations and AKT activation are present in Wilms tumors (WT) and may represent novel therapeutic targets for this tumor. + pmids: + - "28188683" + - text: "The defined role of oncogenic KRAS in the regulation of altered metabolic signaling pathways in KRAS-driven cancers.[review]" + pmids: + - "28647837" + - text: Inhibition of BET bromodomain-dependent XIAP and FLIP expression sensitizes KRAS-mutated non-small cell lung cancer to pro-apoptotic agents. + pmids: + - "27607580" + - text: It has been concluded that VMP1-mediated autophagy cooperated with Kras to promote pancreatic ductal adenocarcinoma initiation. + pmids: + - "27415425" + - text: The presence of a mutation in KRAS is helpful in identifying a mucin-producing Pancreatic cyst and is found in more than 90% of Intraductal Papillary Mucinous Pancreas Neoplasms . + pmids: + - "28890216" + - text: "we found that H-Ras proteins and particularly the G12V and G13D variants are significantly more flexible than their K-Ras counterparts.while most of the simulated proteins sampled the effector-interacting state 2 conformational state, G12V and G13D H-Ras adopted an open switch state 1 conformation that is defective in effector interaction" + pmids: + - "28498561" + - text: We show that the increased gefitinib sensitivity in cancer cells induced by DHHC20 inhibition is mediated directly through loss of palmitoylation on a previously identified cysteine residue in the C-terminal tail of EGFR. + pmids: + - "28899783" + - text: somatic KRAS mutations in polyps represent a potential molecular marker for the risk of developing advanced neoplasia + pmids: + - "28953955" + - text: "In conclusion, mutant KRAS promotes endosomal degradation in PDAC cell lines, which is impaired by KRAS silencing. Moreover, KRAS silencing activates RAB5A upregulation and drives PDAC subtype-dependent modulation of endosome trafficking." + pmids: + - "28867190" + - text: These data indicate that RAGE plays a central role in maintaining inflammatory signaling in PDAC that benefits tumor growth. + pmids: + - "28867179" + - text: "Results from all-atom molecular dynamics simulations show how KRas4A interacts with anionic lipid membranes and find that the protein surface charge as well as geometry, in contact with certain lipids can strongly modulate the orientation preference." + pmids: + - "28286004" + - text: Study underscores genomic alterations that represent early events in the development of Kras mutant LUAD following Gprc5a loss and tobacco carcinogen exposure. + pmids: + - "28653505" + - text: "No significant impact on prognosis was observed for mutated KRAS, NRAS, and PIK3CA genes or combined RAS mutations" + pmids: + - "27737711" + - text: "KRAS mutations were associated with Primary Pulmonary Enteric Adenocarcinomas. KRAS mutations occurred more frequently in Primary Pulmonary Enteric Adenocarcinomas , which are cytokeratin 7-negative (P=.032)." + pmids: + - "28953659" + - text: High expression of KRAS is associated with cutaneous squamous cell carcinoma. + pmids: + - "28931048" + - text: The current study uncovers the contribution of oncogenic KRAS to serum marker CA125 production through a mechanism that involves the ERK/c-Myc axis. + pmids: + - "28108627" + - text: "TAZ was positively correlated with EGFR signaling, and coexpression of TAZ/EGFR conferred a poorer prognosis in lung cancer patients. Our findings identify that targeting TAZ-mediated compensatory mechanism is a novel therapeutic approach to overcome gefitinib resistance in KRAS-mutant/EGFR-wild-type non-small-cell lung cancer ." + pmids: + - "28710768" + - text: CPS1 maintains pyrimidine pools and DNA synthesis in KRAS/LKB1-mutant lung cancer cells + pmids: + - "28538732" + - text: Differences between KRAS and EGFR alterations were not significant. The great majority of the analyzed tumor sections (16/19) exhibited two or more morphological growth patterns. Mutant allele frequencies were significantly higher in segments with a predominant solid pattern compared to all other histologies (p < 0.01). + pmids: + - "28699162" + - text: KRAS mutation is associated with inflammatory bowel disease-associated colorectal cancer. + pmids: + - "28077799" + - text: "We observed that in patients with colorectal cancers, we cannot predict KRAS gene mutations using PET/CT parameters (SUVmax, MTV, TLG), hematological parameters (NLR, PLR) or tumor marker CA 19-9. We detected a significant but not very strong association only between CEA and KRAS mutations." + pmids: + - "28697193" + - text: "KRAS mutation in cfDNA was associated with a poorer survival in cancer patients for overall survival. [meta-analysis]" + pmids: + - "28796802" + - text: Serum and plasma were found to be good materials for detecting cancer-specific DNA in the peripheral blood and the presence of KRAS mutations in blood-derived DNA may be used as a prognostic biomarker for patients with pancreatic cancer. + pmids: + - "28139399" + - text: "the genomic pattern according to MATH demonstrated that mutation rates of TP53, IRF5 and KRAS were independently associated with MATH, and the latter two were only significant in male patients. As MATH increased, the fraction of somatic copy number alteration (SCNA) elevated. Moreover, more SCNA events was independently associated with MATH in male than in female" + pmids: + - "28531253" + - text: "The mutual exclusivity analysis showed that events in K-ras and p53 were likely to co-occur in pancreatic adenocarcinoma. The graphical summary of the mutations showed that there were hotspots for protein activation. In the network analysis, no solid association between K-ras and p53 was observed in pancreatic adenocarcinoma. In the survival analysis, neither K-ras nor p53 were associated with both survival events." + pmids: + - "28742845" + - text: KRAS exon 2 mutation is associated with colorectal cancer. + pmids: + - "28636636" + - text: RAS mutation is associated with infant acute lymphoblastic leukemia. + pmids: + - "27588400" + - text: Suggest that GPR31 acts as a secretory pathway chaperone for KRAS4B in tumor cells. + pmids: + - "28619714" + - text: "The current meta-analysis suggests that Codon 13 mutation of KRAS gene seems to correlate with the OS of patients with colorectal cancer, but has similar overall survival to those with KRAS wild-type in patients receiving anti-EGFR therapy" + pmids: + - "28858102" + - text: "YAP inhibition significantly enhances the antitumor efficacy of a pan-RAF inhibitor, LY3009120, in KRAS-mutant pancreatic cancer." + pmids: + - "28576749" + - text: KRAS mutations are associated with high-grade tumor in colorectal adenocarcinomas. KRAS and PIK3CA genetic variants are associated with aggressive clinicopathological features in colorectal adenocarcinoma. + pmids: + - "28188750" + - text: "The structure model of the CaM-K-Ras4B HVR association provides plausible clues to CaM's regulatory action in PI3Kalpha activation involving the ternary complex in cell proliferation signaling by oncogenic K-Ras4B." + pmids: + - "28623230" + - text: "Circulating exosomal DNA in 5 out of 9 CP patients enabled the detection of KRAS(G)(12)(D) mutation. In 114 healthy subject-derived circulating exosomal DNA, 2.6% presented with KRAS(G)(12)(D) mutation and none with TP53(R)(273)(H) mutation." + pmids: + - "28121262" + - text: Studies indicate that positive PD-L1 expression was significantly correlated with KRAS mutation and EGFR mutation. + pmids: + - "28423587" + - text: "mechanistic insights into the role that phosphorylation at Ser181 plays in regulating K-Ras4B's cellular distribution and activity." + pmids: + - "28448716" + - text: "Data show that Prima-1 kills hypoxic wt p53 KRAS-mutant cells resistant to 3-bromopyruvate (3-BrPA), partly by decreasing GLUT-1 expression." + pmids: + - "27863474" + - text: The data provided new insights into the functional interaction between the KRAS and MYC pathways across various cancer types + pmids: + - "28152508" + - text: COLD-PCR HRM is a cost-effective way for screening KRAS mutation to predict the worst prognosis in colorectal cancer. + pmids: + - "27753016" + - text: these evidences demonstrate that let-7-KRAS rs712 G > T polymorphism might be associated with digestive system cancer risk in the Chinese population. + pmids: + - "28099923" + - text: Cytokines IL-2/7/9 stimulation activates PI3K/Akt pathways downstream of Ras in RasGRP1 T-cell acute lymphoblastic leukemia (T-ALL). + pmids: + - "26549032" + - text: K-Ras is the Direct Target of miR-622. MiR-622 inhibited colorectal cancer cells proliferation and migration and tumor metastasis by suppressing K-Ras. + pmids: + - "26333174" + - text: "Studies indicate that frequently altered genes in type I carcinomas are TP53, K-Ras, PTEN, and ss-catenin." + pmids: + - "27910065" + - text: "we found that ectopic expression of oncogenic KRas and HRas in cells resulted in elevated CIB1 expression. We previously described the Ca(2+)-myristoyl switch function of CIB1, and its ability to facilitate agonist-induced plasma membrane localisation of sphingosine kinase 1 (SK1), a location where SK1 is known to elicit oncogenic signalling." + pmids: + - "27941888" + - text: KRAS mutations were observed in 255 patients (32%) and were correlated with negative histopathological factors in resected non-small-cell lung cancer. + pmids: + - "27530493" + - text: KRAS-E2F1-ILK-hnRNPA1 regulatory loop enables pancreatic cancer cells to promote oncogenic KRAS signaling and to interact with the tumor microenvironment to promote aggressive phenotypes. + pmids: + - "26616862" + - text: "Case Report: KRAS-mutant mucinous adenocarcinoma arose in a longstanding residual neurenteric cyst after partial resection." + pmids: + - "27569299" + - text: activating mutations in GNAS and Kras cooperatively promote murine pancreatic tumorigenesis + pmids: + - "26257060" + - text: "Ras-induced senescent cells are hindered in their ability to recruit BRCA1 and 53BP1 to DNA damage sites. Whereas BRCA1 is downregulated at transcripts levels, 53BP1 loss is caused by activation of cathepsin L-mediated degradation of 53BP1 protein. we discovered a marked downregulation of vitamin D receptor (VDR) during OIS, and a role for the vitamin D/VDR axis regulating the levels of these DNA repair" + pmids: + - "27041576" + - text: These findings identify a key mechanism of tolerance to Ras-Raf pathway inhibitors and suggest that blocking either AMPK or autophagy in combination with these targeted inhibitors could increase tumor regression and decrease the likelihood of eventual recurrence. + pmids: + - "27041569" + - text: "we established that the most potent compound, ophiobolin A, exerts its K-ras4B-specific activity through inactivation of calmodulin. Our data suggest that specific interference with the K-ras4B/calmodulin interaction selectively inhibits CSC." + pmids: + - "26973241" + - text: "This study demonstrated that KRAS and TP53 mutations are frequently detected in LIFE bronchoscopy samples from former lung cancer patients with early stage lung cancer. These mutations were found not only in abnormal lesions but also in histologically normal tissues in samples from active smokers, from ex-smokers and never smokers." + pmids: + - "27182622" + - text: "Overexpression of mutated K-RAS in gastrointestinal cancer cell lines led to more aggressive phenotypes, with increased proliferation, decreased apoptosis, and increased motility and invasion. IGF-1R blockade suppressed cell growth, colony formation, migration, and invasion, and up-regulated chemotherapy-induced apoptosis of gastrointestinal cancer cells, even when mutated K-RAS was over-expressed." + pmids: + - "27312358" + - text: TP53 comutation with KRAS or EGFR is not a significant prognostic marker in patients with resected Non-Small-Cell Lung Cancer. Dual TP53/KRAS mutation seems to be predictive of shortened survival in patients who are treated with platinum-based ACT. + pmids: + - "28453411" + - text: Variation in organ-specific PIK3CA and KRAS mutant levels in normal human tissues correlates with mutation prevalence in corresponding carcinomas. + pmids: + - "28755461" + - text: a potent tumor-suppressive function for Lfng + pmids: + - "26279302" + - text: "Rescue experiments with mutated KRas 3'UTR showed very significantly that the anti-tumour effect of miR-193a-3p is via specific direct targeting of KRas and not due to other targets." + pmids: + - "27669434" + - text: ConclusionThe significantly higher frequency of codon 61 mutation of the ras oncogene in primary and bilateral pterygium specimens compared with normal conjunctiva supports the tumoral origin of pterygium + pmids: + - "27834959" + - text: The results show that KRAS mutations are associated with a worse prognosis than expected in patients treated with FOLFIRI protocol plus bevacizumab compared with the KRAS wild-type population. + pmids: + - "28463756" + - text: Concurrent MET silver in situ hybridization positivity and KRAS mutation may predict a high risk of recurrence in pancreatobiliary subtype of ampullary adenocarcinomas + pmids: + - "28214200" + - text: "A significantly higher proportion (54%) of early onset colorectal cancer cases harbored KRAS mutations, a finding that was independent of tumor stage." + pmids: + - "27346571" + - text: A novel molecular mechanism describing K-Ras and H-REV107 binding is suggested and insights into new K-Ras effector target drugs are provided. + pmids: + - "28743497" + - text: "Data suggest that isoform-specific sequences in the allosteric lobes of HRAS, KRAS, and NRAS have an impact on biocatalysis (kinetics of GTP hydrolysis) and interaction with c-Raf kinase, which must be due to allosteric effects on dynamics and conformational states, given the identical active sites of these isoenzymes." + pmids: + - "28630043" + - text: KRAS mutation patients had more frequent lung metastasis and had higher (18)F-FDG uptake compared to WT KRAS in stage IV CRC. + pmids: + - "28161825" + - text: These five SNPs in the KRAS gene and the VEGF gene were not associated with CRC susceptibility. + pmids: + - "28328959" + - text: The possibility of cfDNA-based genotyping of KRAS to early detect the emergence of resistance during chemotherapy. + pmids: + - "28328955" + - text: Increased staining for phosphorylated ERK1/2 does not correlate to BRAF or KRAS mutations in colorectal neoplasms. + pmids: + - "27036313" + - text: "pancreatic ductal cells, whereas exhibiting relative resistance to oncogenic Kras alone, can serve as an effective cell of origin for pancreatic ductal adenocarcinoma in the setting of gain-of-function mutations in p53" + pmids: + - "26592447" + - text: High KRAS expression is associated with Metastasis in Colorectal Cancer. + pmids: + - "26945839" + - text: "K-ras mutations in codon 12 were significantly associated with the I phenotype of gastric signet ring cell carcinoma, and exhibited an inverse relationship with MUC5AC and MUC6 expression." + pmids: + - "28453172" + - text: KRAS-mutant colorectal carcinoma shows intrinsic radioresistance along with rapid upregulation of hnRNP K in response to ionizing radiation that can effectively be targeted by MEK inhibition. + pmids: + - "27793696" + - text: KRAS mutational status did not differentiate in the association between aspirin use and survival. + pmids: + - "28125730" + - text: Alternative pathways through mutations in KRAS gene are associated with the progression of Colorectal polyps to cancer and may provide insights into the genetic characteristics of skirts. + pmids: + - "26808395" + - text: tyrosine kinase FAK and the laminin subunit LAMB3 as functional targets of miR-1298. Silencing of FAK or LAMB3 recapitulated the synthetic lethal effects of miR-1298 expression in KRAS-driven cancer cells. + pmids: + - "27698189" + - text: "Compared with newly diagnosed multiple myeloma, an increased prevalence of mutations in the Ras pathway genes KRAS, NRAS, and/or BRAF (72%), as well as TP53 (26%), CRBN (12%), and CRBN pathway genes (10%) was observed." + pmids: + - "27458004" + - text: the study identifies mutations in KRAS and POT1 as novel determinants of outcome after chemoimmunotherapy using chlorambucil and anti-CD20 treatment. + pmids: + - "27226433" + - text: Our data suggest that testing for any RAS mutation is unlikely to change the clinical management of thyroid nodules that have indeterminate cytology + pmids: + - "28116986" + - text: "In salivary gland neoplasms, no KRAS mutations at codon 12 and 13 could be observed in the data at hand." + pmids: + - "26245271" + - text: Mutation in KRAS gene is associated with Advanced Lung Adenocarcinoma. + pmids: + - "27518729" + - text: KRAS mutation is associated with colon and lung cancer. + pmids: + - "28154181" + - text: "Equilibrium dissociation constants were determined for the binding of HRAS, KRAS, NRAS and RRAS2 to the RAS binding (RB) domain of binding proteins." + pmids: + - "27936046" + - text: "BRAF or KRAS mutations are independently associated with shorter time to recurrence, shorter survival after relapse, and overall survival in patients with microsatellite-stable (MSS) subgroups, but not microsatellite-unstable tumors." + pmids: + - "28040692" + - text: Mutations within codon 146 of KRAS are associated with oculoectodermal syndrome and encephalocraniocutaneous lipomatosis. + pmids: + - "26970110" + - text: "KRAS protein mutation, may guide the extent of thyroidectomy in patients with thyroid neoplasms." + pmids: + - "27863786" + - text: Studies indicate that RAS proteins were among the first oncogenes identified and are mutationally activated in 30% of all cancer types. + pmids: + - "28202657" + - text: "In patients with resected stage I lung adenocarcinomas, KRAS mutation was an independent prognostic factor for survival and recurrence, especially in solid predominant tumors." + pmids: + - "27740967" + - text: Our study provides a rationale to strengthen NK cell immunotherapy through a combination with cetuximab for RAS and BRAF mutant mCRC patients. + pmids: + - "27314237" + - text: analysis of the G-quadruplex involved in transcriptional regulation of the KRAS proto-oncogene promoter + pmids: + - "28330874" + - text: Studies indicate that the control of spatiotemporal RAS protein signalling show that activation kinetics and subcellular compartmentalisation are tightly coupled to the generation of specific biological outcomes. + pmids: + - "27911734" + - text: "KRAS protein mutation in colorectal liver metastasis, hepatectomy associated with high mortality rate." + pmids: + - "27592215" + - text: "Our data proved that RMRP acted as an oncogene LncRNA to promote the expression of KRAS, FMNL2 and SOX9 by inhibiting miR-206 expression in lung cancer. These data suggested that RMRP might serve as a therapeutic target in lung adenocarcinoma" + pmids: + - "27906963" + - text: Results indicate that MLH1-hypermethylated BRAF wild-type colorectal carcinomas can harbor KRAS mutations and arise from precursor polyps resembling conventional tubular/tubulovillous adenomas. + pmids: + - "27438990" + - text: "The patients with traditional serrated adenoma showed KRAS and BRAF mutations in 58.4 and 8.3% of cases, respectively. Mutations of these genes were absent. The study revealed that the subtypes of serrated adenomas substantially differ by sex, age, localization, and molecular genetic characteristics." + pmids: + - "28295004" + - text: "Endoplasmic reticulum stress triggers a localized signaling module on the ER surface involving Nox4-dependent calcium mobilization, which directs local Ras activation through ER-associated, calcium-responsive RasGRF." + pmids: + - "27856453" + - text: "Additionally, we report that PIP2 forms key contacts with Helix-4 on the catalytic domain of KRas4b that orient the protein in a manner expected to facilitate association with upstream and downstream signaling partners." + pmids: + - "28412347" + - text: Studies indicate potential mechanisms of resistance to anti-EGFR therapies act through acquired mutations of KRAS and the EGFR ectodomain. + pmids: + - "28368335" + - text: "In 2,437 NSCLC patients, a \"KRAS signature\" consisting of the mean expression of the top 5 genes showing altered expression in KRAS-mutated patients had a higher prognostic power than KRAS mutation status alone, indicating that secondary effects of a mutation can have a higher prognostic relevance than the primary genetic alteration itself." + pmids: + - "27859136" + - text: "Our data demonstrate an important connection between mRNA translation and KRAS tumorigenesis under the control of STAT1, which can determine the susceptibility of KRAS tumors to pharmacologic inhibition of mRNA translation initiation." + pmids: + - "27913706" + - text: repression of endogenous mir-200 expression is one of the important cellular responses to KRAS activation during tumor initiation and progression. + pmids: + - "27550813" + - text: "ytoplasmic immunoexpression of BRAF V600E (VE1) protein was found in three specimens: serous superficial papilloma, serous papillary cystadenoma of borderline malignancy, and partially proliferative serous cystadenoma" + pmids: + - "28488545" + - text: Epidermal growth factor receptor mutation and KRAS amino acid substitutions seem to predict site-specific recurrence and metastasis after NSCLC surgery + pmids: + - "27336603" + - text: "KRAS K104Q mutant exhibited defects in both guanine nucleotide exchange factors -mediated exchange and GTPase-activating proteins -mediated GTP hydrolysis, consistent with NMR-detected structural perturbations in localized regions of KRAS important for recognition of these regulatory proteins." + pmids: + - "28154176" + - text: "This review highlights treatment options, including clinical trials for ROS1 rearrangement, RET fusions, NTRK1 fusions, MET exon skipping, BRAF mutations, and KRAS mutations." + pmids: + - "27912827" + - text: "To our knowledge, this is the first report of a K-Ras(G12D)-selective inhibitor, contributing to the development and study of K-Ras(G12D)-targeting drugs." + pmids: + - "28153726" + - text: Three hundred seventy seven patients with wild-type KRAS exon 2 mCRC were randomised. + pmids: + - "27736842" + - text: nuclear Ect2 GEF activity is required for Kras-Trp53 lung tumorigenesis in vivo and that Ect2-mediated transformation requires Ect2-dependent rDNA transcription. + pmids: + - "28110998" + - text: Results suggest that SECs are of neoplastic origin and that KRAS mutations play an important role in the tumorigenesis of ECs and SECs. + pmids: + - "27154241" + - text: "SLC25A22 promotes proliferation and migration of colorectal cancer (CRC) cells with KRAS mutations, and formation and metastasis of CRC xenograft tumors in mice. Patients with colorectal tumors expressing increased levels of SLC25A22 have shorter survival times. SLC25A22 induces intracellular synthesis of aspartate." + pmids: + - "27451147" + - text: "Sequencing of over 11,000 advanced human cancers revealed mutant allele imbalance in 55% of 1,168 KRAS mutant tumors of all histologic types, many of which lost WT KRAS through diverse genetic mechanisms. Clonal evolution at the KRAS locus resulting in increased oncogene expression and loss of the normal allele may identify a subset of cancers with increased dependence on MAPK signaling in some tissue contexts." + pmids: + - "28215705" + - text: "farnesylation of K-Ras was required for its packaging within extracellular nanovesicles, yet expressing a K-Ras farnesylation mutant did not decrease the number of nanovesicles or the amount of Alix protein released per cell." + pmids: + - "27909058" + - text: "By using this model of curative-intent, margin-negative resection in patients at high risk of recurrence, the authors were able to establish a link between mutation location within the K/NRAS gene and the biology of metastatic colorectal cancer." + pmids: + - "27737491" + - text: "Here we review the current knowledge about the classification of this tumor subtype and its association with five key features: mutation status of the BRAF or KRAS genes, the CpG island methylation phenotype, microsatellite instability, immune cell infiltration, and overexpression of GTPase RAC1b" + pmids: + - "27345584" + - text: "KRAS mutations were found in 3 patients with endometriosis but found that lesions in deep infiltrating endometriosis, which are associated with virtually no risk of malignant transformation, harbor somatic cancer driver mutations." + pmids: + - "28489996" + - text: Gli1 and Gli2 exhibited different functions in the regulation of p63 expression or proliferation of p63(+) cells in Kras-AR driven tumors. + pmids: + - "27760825" + - text: Specific mutations in KRAS codon 12 are associated with recurrent colorectal cancer. + pmids: + - "28208157" + - text: "There is a relationship between KRAS mutation status and local recurrence after image-guided ablation of lung adenocarcinoma. Specifically, KRAS mutation status of the ablated lesion is a significant predictor of time to local recurrence, independent of size and margin." + pmids: + - "27440441" + - text: KRAS mutation is associated with recurrent and colorectal liver metastases. + pmids: + - "27244540" + - text: the analysis of K-ras mutations in pancreatic juice has a considerable diagnostic value in pancreatic cancer (Meta-Analysis) + pmids: + - "27237100" + - text: "Ras isoforms' dimer conformations are not uniform; instead, the isoform-specific dimers reflect the favoured interactions of the HVRs (hypervariable regions) with cell membrane microdomains, biasing the effector-binding site orientations, thus isoform binding selectivity." + pmids: + - "27057007" + - text: No relation between oropharyngeal squamous cell carcinomas and KRAS gene mutations + pmids: + - "27888823" + - text: The mitosis-like condensed chromatin positive phenotype defined a subset of KRAS-mutated lung cancers that were enriched for co-occurring genomic alterations in TP53 and CDKN2A. Results illuminate the basis for the radiation resistance of KRAS-mutated lung cancers. + pmids: + - "28202526" + - text: "Study demonstrates that stress granules are markedly elevated in mutant KRAS cells following exposure to stress-inducing stimuli. The upregulation of stress granules by mutant KRAS is dependent on the production of the signaling lipid molecule 15-deoxy-delta 12,14 prostaglandin J2 (15-d-PGJ2) and confers cytoprotection against stress stimuli and chemotherapeutic agents." + pmids: + - "27984728" + - text: "review focuses on the genes, which are frequently mutated in various cancers and are known to be important in the advance and progression of colorectal cancer and melanoma, namely KRAS, NRAS and BRAF" + pmids: + - "28074351" + - text: studies provide a deeper understanding of the critical role for WASF3 in facilitating increased invasion potential in cancer cells expressing mutant RAS and supports the idea that targeting WASF3 in metastatic cells overexpressing RAS may be used to suppress invasion and metastasis + pmids: + - "28233357" + - text: Study found that the K-Ras anchor binds selected plasma membrane anionic lipids with defined head groups and lipid side chains. The precise amino acid sequence and prenyl group define a combinatorial code for lipid binding that extends beyond simple electrostatics; within this code lysine and arginine residues are non-equivalent and prenyl chain length modifies nascent polybasic domain lipid preferences. + pmids: + - "28041850" + - text: Alcohol intake is associated with an increased risk of KRAS+ and BRAF-/KRAS- tumors originating via specific molecular pathways including the traditional adenoma-carcinoma pathway but not with BRAF+ tumors originating via the serrated pathway + pmids: + - "27943267" + - text: This is the first report of somatic KRAS mutations in oncocytic sinonasal papillomas and metachronous sinonasal squamous cell carcinoma + pmids: + - "27234382" + - text: A higher percentage of patients with localized pancreatic ductal adenocarcinoma exhibited detectable KRAS mutations in exosome-derived DNA than previously reported for cell-free DNA + pmids: + - "28104621" + - text: we demonstrated that KRAS-mutant CRC cells could become adaptive to glutamine depletion through asparagine biosynthesis by ASNS + pmids: + - "27764698" + - text: "Our population-based study of 1,081 patients with refractory, KRAS exon 2 wild-type mCRC suggests a possible OS benefit with the combination of Cmab + I compared to Pmab alone without an associated increase in toxicity.With a much larger sample size (n = 1081), our study was better powered to detect an OS difference between combination and EGFR monotherapy." + pmids: + - "28220486" + - text: A potential role for anti-IGF-1R agents in KRAS exon 2 mutant CRC. + pmids: + - "27681944" + - text: "Two genes, namely ZNF518B and EPDR1, exhibit a pattern of isoform abundance dependent on KRAS G13D and G12D mutations." + pmids: + - "27805251" + - text: "Overexpression of K-p21Ras was found in all colorectal cancer tissues tested, overexpression of N-p21Ras was found in 85.7% of the colorectal cancertissues, while H-p21Ras expression was not found in any colorectal cancer tissue." + pmids: + - "28259994" + - text: Our data suggest a possibility that miR-487b may suppress metastasis of colorectal cancer progression through inhibition of KRAS + pmids: + - "28000854" + - text: No relationship was noted between KRAS mutation status and standardized uptake value of fluorodeoxyglucose F18. + pmids: + - "28422979" + - text: RAS mutation in mCRC metastasectomy patients was associated with shorter overall survival + pmids: + - "27004837" + - text: Our findings indicate that BRAF and KRAS mutations as well as mutation heterogeneity predict poor outcome in CRC patients subsequent to liver resections and might help guide treatment decisions. + pmids: + - "26991344" + - text: "Report KRAS, NRAS, PIK3CA, and BRAF mutational profile in poorly differentiated clusters of KRAS-mutated colon cancer may depend on tumor histology." + pmids: + - "28025078" + - text: Oncogenic mutations in Her-2/neu or k-ras had no association with the severity of endometrial cancer. + pmids: + - "27343315" + - text: A concordance rate of 81.0 % was detected in KRAS mutation between primary tumor and metastatic lesion in Chinese patients with colorectal cancer + pmids: + - "27270901" + - text: "The present study evaluated the mutation percentage of two well-known drivers of colorectal cancer (KRAS) and melanoma (BRAF) to further elucidate other risk factors in anal cancer development. In conclusion, a low percentage of mutation was identified in squamous cell carcinoma, adenocarcinomas and highgrade squamous intraepithelial lesion." + pmids: + - "27573925" + - text: this meta-analysis suggests that K-Ras mutations are associated with a worse overall survival in pancreatic cancer patients + pmids: + - "27225938" + - text: Patients with the KRAS-variant with head and neck squamous cell carcinoma significantly benefit from the addition of cetuximab to radiotherapy + pmids: + - "28006059" + - text: "Mutations in BRAFV600E were significantly associated with worse survival after recurrence (SAR) in patients with recurrent stage III colon cancer, and worse SAR for BRAFV600E or KRAS mutant tumors was more strongly associated with distal cancers." + pmids: + - "28006055" + - text: SP174 immunohistochemistry allows sensitive detection of NRAS and KRAS Q61R mutants. + pmids: + - "28353383" + - text: this study shows that combining the analysis of KRAS mutational status and computed tomographic features could better predict survival in patients lung adenocarcinoma + pmids: + - "26712103" + - text: KRAS mutation is associated with colorectal cancer. + pmids: + - "27444698" + - text: KRAS mutation is associated with colorectal liver metastasis. + pmids: + - "27566041" + - text: Braf and Kras genes mutation were reveled in gastritis and adenocarcinoma patients. + pmids: + - "27116958" + - text: KRAS mutant status is associated with distant recurrence of rectal cancer + pmids: + - "28314302" + - text: The KRAS gene mutations (especially in codon 12) are the most frequent genetic abnormalities both in primary and in central nervous system metastatic lesions of non-small cell lung cancer. + pmids: + - "25902737" + - text: High KRAS mutation rate is associated between primary colorectal cancer and corresponding metastases. + pmids: + - "28000889" + - text: "EGFR and KRAS mutations have a predictive role on brain metastases incidence, recurrence and outcome in Caucasian Non-Small Cell Lung Cancer patients." + pmids: + - "27999344" + - text: Data indicate that ninety-three percent of the patients had KRAS protein mutations in tumor DNA. + pmids: + - "26684859" + - text: "multiregion analysis was performed in 60 spatially separated tumor areas according to the pathological tumor node metastasis (pTNM) staging and KRAS, NRAS and BRAF mutations were tested using pyrosequencing.these results suggest the need for multiple RAS testing in different parts of the same tumor and/or more sensitive techniques." + pmids: + - "27916952" + - text: "The aim of the current study was to clarify the frequency of relevant alterations of the 3'UTR regions of the KRAS gene and the effect of KRAS 3'UTR polymorphisms on the prognosis of patients with codon 12, 13 and 61 mutations in a Turkish population with pancreatobiliary tumors" + pmids: + - "27256640" + - text: "KRAS mutation was found in 38 (81%) cases, of which 12 (32%) showed intratumor heterogeneity (ITH) and 9 (23%) were found to have KRAS mutant allele amplification." + pmids: + - "26646269" + - text: "the central autophagy regulator TFEB is expressed and active in PDAC, but autophagy is sustained after TFEB knockdown, suggesting alternative bypass signaling. TFEB is dispensable for gemcitabine-induced cell death, but inversely correlated with KRAS expression." + pmids: + - "27175909" + - text: "Our results suggest that KRAS mutation status could have some predictive and prognostic importance in rectal cancer when analyzed together with other parameters, such as VEGF and Ki67 expression." + pmids: + - "27184911" + - text: Data suggest that the rs61764370 single nucleotide polymorphism may be associated with an increased risk of metastatic disease in osteosarcoma (OS) by disrupting the interaction between microRNA let-7a and KRAS mRNA. + pmids: + - "27430246" + - text: Codon 12 of exon 2 of K--ras gene detected by modified mismatch PCR-RFLP assay is significantly associated with liver metastasis in CRC patients during the first 5 years after surgery. + pmids: + - "28169239" + - text: The results of our study are compatible with other studies and indicate the correlation between K-ras gene mutation and colorectal cancer incidence. Identification of K-ras gene mutation may complement other diagnostic methods at early stage of colorectal cancer. + pmids: + - "27096769" + - text: "These results indicated that genotype. GT/GG of rs61764370 was not a genetic susceptible risk factor for cancer, and rs61764370 could not be used as a biomarker for estimating cancer risk in Caucasian population." + pmids: + - "27461636" + - text: KRAS mutation is associated with lung cancer. + pmids: + - "27793187" + - text: "Activating EGFR mutations were found in 14.1% of all tumors, whereas KRAS mutations were found in 30.5% of all tumors." + pmids: + - "27373829" + - text: "findings demonstrate that KRAS affects the homeostasis of MA4-expressing HSPCs, suggesting that KRAS activation in MA4(+) B-ALL is important for tumor maintenance rather than initiation" + pmids: + - "26837759" + - text: "study evaluated the KRAS oncogene and its relationship with clinicopathologic features in 33 Kurdish colorectal cancer patients; 12 samples had a nucleotide change, 11 in codon 12 and 1 in codon 13; there was no significant relationship between the mutation and clinical and pathological aspects of the disease" + pmids: + - "27509933" + - text: Data suggest that genotyping for KRAS and BRAF mutation status is a gold standard for categorizing colorectal cancer (CRC) for clinical decisions. + pmids: + - "28179313" + - text: Inhibition of EGFR and KRAS downstream with a P13K/Akt inhibitor could be useful for treating NSCLC. + pmids: + - "27121230" + - text: "recent years, there has been significant advancement in the understanding of the biology of KRAS and its downstream effectors. This has translated into a multitude of important preclinical studies and clinical trials that are currently underway to find effective therapeutic drugs for KRAS mutant lung cancer recent years, there has been significant advancement in the understanding of the biology of KRAS and its downstream" + pmids: + - "27100819" + - text: "Study shows the prevalence of mutations in codons 12 and 13 of K-ras exon 2 comparable between the Middle Eastern population and previous reports from the region. These mutations were associated with adverse features during presentation of the disease, including higher serum CEA, and also associated with poor outcomes in patients presenting with both early and advanced stages of the disease." + pmids: + - "28218784" + - text: overactivity of KRAS due to mutation inhibits localization of Ago2 to multivesicular endosomes (MVEs) and decreases Ago2 secretion in exosomes. + pmids: + - "27117408" + - text: RAS mutations constitute a frequent molecular event in RET-negative sporadic medullary thyroid carcinoma in Polish patients. + pmids: + - "25931041" + - text: KRAS mutation is associated with lung adenocarcinomas. + pmids: + - "26882436" + - text: KRAS mutation is associated with response to therapy in pancreatic cancer. + pmids: + - "26684803" + - text: These data suggest that SIRT1 is involved in hydroquinone -induced malignant transformation associated with suppressing p53 signaling and activation of KRAS. + pmids: + - "27515134" + - text: oncogenic KRas-induced increase in fluid-phase endocytosis has a key role during cellular transdifferentiation in pancreatic acinar cells. This result supports emerging evidence for endocytosis playing a crucial role in regulating the signaling output of the cells + pmids: + - "28057438" + - text: High KRAS expression is associated with hepatocellular carcinoma. + pmids: + - "27488117" + - text: miR-613 is frequently downregulated in ovarian cancer and is a potential tumor-suppressing miRNA that may decrease ovarian cancer development and/or progression. KRAS regulation by miR-613 might play a role in its regulation of the malignant behavior of ovarian cancer. + pmids: + - "26631045" + - text: "Rare mutations in KRAS, NRAS, and BRAF oncogenes have been found in patients with melanoma and colorectal neoplasms." + pmids: + - "28091917" + - text: comparison of the survival of patients with tumors harboring G12V/A KRAS mutations with those harboring wild-type KRAS gene revealed that G12V/A KRAS mutations are prognostic biomarker for inferior PFS and OS in patients with mCRC treated with bevacizumab in univariate as well as multivariable analyses. + pmids: + - "26662311" + - text: RAS proteins are essential for intracellular signal transmission. + pmids: + - "27146067" + - text: KRAS mutation status was an independent predictor of overall survival among patients undergoing liver resection of colorectal liver metastases. + pmids: + - "27264476" + - text: "a novel EWSR1/ETS chimeric gene, was identified in a patient diagnosed with refractory AML, suggesting a potential role of leukemogenesis in rare cases of AML. This fusion gene is very likely to exhibit oncogenic potential by interfering with the p53/p21-dependent pathway." + pmids: + - "27627705" + - text: KRAS rs61764370 polymorphism is significantly associated with risk and prognosis of gallbladder malignancy in this endemic belt in North India. + pmids: + - "27620744" + - text: our findings demonstrate that coexpression of Bmi1 and KRASG12D could lead to transformation of human pancreatic duct-derived cells cells in vitro + pmids: + - "26951514" + - text: "upregulated miRNA-622 inhibited cell proliferation, migration, and invasion via repressing K-Ras in the progression of glioblastoma, and miR-622-K-Ras pathway can be recommended as a potential target for treatment of glioblastoma" + pmids: + - "26596833" + - text: rs61764370 and rs712 polymorphisms of the KRAS are functional and it may play an important role in the development of colorectal cancer (CRC) and oxaliplatin-based chemotherapy efficiency and prognosis of CRC. + pmids: + - "26515332" + - text: "The recurring expression of NF-kB, SHH, K-RAS, and PTX3 in vimentin- and CD44-positive breast cancer cells allows to speculate that breast cells acquire the ability to express these molecules in concomitance to EMT phenomenon." + pmids: + - "26563370" + - text: "KRAS mutations were associated with N stage, a polypoid pattern, axial tumor length, and the ratio of the axial to the longitudinal dimensions of the tumor." + pmids: + - "27630331" + - text: None of the clinicopathological parameters were associated with the expressions of FIH-1 and SOCS3 at mRNA level. + pmids: + - "26749281" + - text: KRAS gene mutations are associated with Urinary Bladder Cancer. + pmids: + - "27356691" + - text: KRASG12V may be a marker of adenomatoid odontogenic tumors + pmids: + - "26979257" + - text: "Authors identified 9 neoplasms, all invasive mucinous adenocarcinomas or mixed mucinous/nonmucinous adenocarcinomas, with mutations of KRAS." + pmids: + - "26829311" + - text: The rs61764370 Functional Variant in the KRAS Oncogene is Associated with Chronic Myeloid Leukemia Risk. + pmids: + - "27221928" + - text: Data show that expressions of histone deacetylase 6 protein (HDAC6) and c-myc protein are increased in fibroblasts transformed with activated K-ras protein. + pmids: + - "26848526" + - text: KRAS mutations are Associated with Metastatic Colorectal Cancer. + pmids: + - "26925650" + - text: It was concluded that a serum sample might alternatively be used when it is difficult to obtain tumor tissues for analyzing the status of KRAS mutation in patients with advanced colorectal cancer. + pmids: + - "25687873" + - text: The biomarkers KRAS/p16/beta-catenin could be used as a combined biomarker for prediction of local recurrence and stratification of the risk for further surgery + pmids: + - "27798894" + - text: Analysis of KRAS mutation combined with immunohistochemical expression of CD44 and CD166 identified subgroups of patients with colon adenocarcinoma at higher risk of lymph node involvement by the tumor and development of liver and lung metastasis. + pmids: + - "27062566" + - text: No easily clinically assessable parameter was significantly associated with KRAS mutations in patients with colorectal cancer. + pmids: + - "27466537" + - text: KRAS Mutation is associated with Metastatic Colorectal Cancers. + pmids: + - "27039744" + - text: KRAS Mutations are associated with response to therapy in Metastatic Colorectal Cancer. + pmids: + - "27221845" + - text: "Activating HRAS, KRAS and EGFR mutations play a major role in the pathogenesis of sporadic SGH. These results support the concept that SGH is a true benign neoplasm rather than a reactive hyperplasia." + pmids: + - "26804118" + - text: K-ras mutation is associated with pancreatic cancer. + pmids: + - "27183870" + - text: "KRAS and, infrequently, BRAF mutations are observed in a subset of small intestinal adenocarcinomas, and are associated with higher pT classification and more frequent pancreatic invasion" + pmids: + - "26892442" + - text: "Similarly, there was no association between KRAS mutation status and survival parameters. As a result, the effect of KRAS mutation status on clinicopathological features, survival time and prognosis is unclear." + pmids: + - "27072218" + - text: KRAS mutation is associated with lung cancer. + pmids: + - "26636714" + - text: KRAS mutations are associated with non-small-cell lung cancer. + pmids: + - "26789109" + - text: Clinical relevance of circulating KRAS mutated DNA in plasma from patients with advanced pancreatic cancer. + pmids: + - "26725968" + - text: KRAS mutations are associated with non-small-cell lung cancer. + pmids: + - "26840022" + - text: "Molecular dynamics simulations help provide a mechanistic explanation of key mutational events in one of the most oncogenic proteins in cancer, KRAS-4B." + pmids: + - "26902995" + - text: KRAS mutation is associated with pancreatic cancer. + pmids: + - "26771140" + - text: Mutant KRAS Conversion of Conventional T Cells into Regulatory T Cells + pmids: + - "26880715" + - text: There were not statistical significant differences between carriers of KRAS mutated alleles between SD and PD groups. No significant difference was found between response rates and toxicity and DPD or UGT1A1 genotypes. Our results suggested that determination of DPD or UGT1A1 genotypes could not be useful for predicting severe toxicity of irinotecan in our population. + pmids: + - "27072236" + - text: KRAS mutation is associated with colon cancer. + pmids: + - "26799289" + - text: KRAS mutation is associated with liver cancer. + pmids: + - "26799184" + - text: Variation in KRAS driver substitution distributions between tumor types is determined by both mutation and natural selection. + pmids: + - "26902163" + - text: Data indicate that a RAS mutation was found in 24 thyroid aspirates with 8 NRAS and 16 KRAS. + pmids: + - "26260959" + - text: KRAS mutations in lung adenocarcinoma were not associated with asbestos exposure. + pmids: + - "26463840" + - text: "These results revealed differences in the genetic profiles of KRAS, NRAS, PIK3CA and BRAF at mutation hotspots between Chinese CRC patients and those of Western countries." + pmids: + - "26691448" + - text: Ras overexpression outcome depends on the clonogenic potential of the recipient keratinocyte and that only the stem cell compartment is competent to initiate tumorigenesis. + pmids: + - "26795563" + - text: KRAS and BRAF mutation analysis could be used in the selection of patients for anti-EGFR therapy. + pmids: + - "25267307" + - text: Thus ERK5 signaling is unlikely to play a role in tumor cell proliferation downstream of KRAS or BRAF or in tumor cells with ERK5 amplification. These results have important implications for the role of ERK5 as an anti-cancer drug target + pmids: + - "26959608" + - text: Results show that oncogenic KRAS can activate Rho through miR-31-mediated regulation of RASA1 indicating miR-31 acts as a KRAS effector to modulate invasion and migration in pancreatic cancer. + pmids: + - "26747707" + - text: "Forty-nine paired tissues with both primary adenocarcinoma of lung and matched brain metastasis were collected. Thirteen patients (26.5%) were discordant for the status of EGFR between primary and metastatic sites. K-ras gene could be checked in paired specimens from 33 patients, thirteen patients (39.6%) were discordant for the status of K-ras." + pmids: + - "27070580" + - text: "Development of Brain metastases (BM) from colorectal cancer (CRC) is associated with young age, lung metastases, rectal primary and KRAS mutation." + pmids: + - "27037031" + - text: "Prognosis impact of KRAS mutations in non-small cell lung cancer.[review]" + pmids: + - "26520779" + - text: This study failed to show improvement in ORR or PFS with combination therapy of selumetinib and erlotinib over monotherapy in KRAS mutant and KRAS wild-type advanced nonsmall-cell lung cancer + pmids: + - "26802155" + - text: KRAS engages AGO2 to enhance cellular neoplastic transformation. + pmids: + - "26854235" + - text: "KRAS mutations appear to be unrelated to clinical outcome in pancreatic cancer. [review]" + pmids: + - "26927447" + - text: "we employed a double-stranded toehold-exchange probe, which is labeled with fluorescent molecules (FAM) and quenchers (Dabcyl), to detect KRAS mutations in cancer tissues." + pmids: + - "26829579" + - text: "Results of APC and DCC LOH, KRAS and microsatellite instability indicate our colorectal cancer cases were typical of sporadic cancers following the 'chromosomal instability' pathway." + pmids: + - "26970738" + - text: "Based on the findings, it is concluded that the occurrence of the KRAS-LCS6 TG genotype was statistically significantly different in association with status of the HER2 gene in breast cancer." + pmids: + - "26077004" + - text: The data support an in vivo plasticity model of human colon cancer initiation that merges the intrinsic stem cell properties of aberrant colon stem cells with the embryonic stem cell-like program induced by KRASmut to optimize malignant transformation. + pmids: + - "26744320" + - text: Data show that KRAS protein codon 12 mutations were detected in 100% pancreatic ductal adenocarcinomas. + pmids: + - "26474433" + - text: oncogenic mutant K-Ras interacts with a negatively charged lipid bilayer membrane in multiple orientations. + pmids: + - "26958889" + - text: Results showed that the presence of KRAS activating mutations in patients with metastatic or recurrent non-small cell lung cancer are correlated with worse prognosis. + pmids: + - "26775593" + - text: "treatment response, survival, and the associations between KRAS mutation status and tumour expression levels of BRCA1, TYMS and SRC retrospectively in a cohort of patients with non-small cell lung cancer, were evaluated." + pmids: + - "26740498" + - text: Results show that the presence of KRAS mutation (especially KRAS G12C mutation) correlated with adverse prognosis in non-small cell lung cancer patients treated with second- or third-line pemetrexed or docetaxel. + pmids: + - "26977001" + - text: both mRNA and protein KRAS expression were significantly decreased in SCC-15 cells in which miR-126 was overexpressed. + pmids: + - "26883054" + - text: This study identifies the molecular basis for the S-phase arrest caused by Q deprivation in KRas-driven cancer cells that arrest in S-phase in response to Q deprivation. + pmids: + - "26921316" + - text: High KRAS expression is associated with Pancreatic cancer. + pmids: + - "26716649" + - text: The KRAS variant impact on breast cancer development risk. + pmids: + - "26710843" + - text: "Case Report: KRAS mutation-positive bronchial surface epithelium type lung adenocarcinoma with strong expression of TTF-1." + pmids: + - "26823891" + - text: No difference was found in overall survival between KRAS codon 12 versus codon 13 mutations in metastatic colorectal cancer + pmids: + - "26610798" + - text: "RAS mutation status may assist in identifying a particular sub-set of multiple myeloma patients, who especially benefit from ASCT in the era of novel agents." + pmids: + - "25947035" + - text: KRAS mutations are associated with response to therapy in metastatic colorectal cancer. + pmids: + - "26775732" + - text: KRAS mutation is a negative prognostic factor in mCRC patients undergoing LM. + pmids: + - "26715198" + - text: Studied the role of KRAS mutation status as a prognostic factor in surgically resected colorectal cancer patients with liver and lung metastases. + pmids: + - "26887348" + - text: Hsa-miR-1 suppresses breast cancer development by down-regulating K-ras and long non-coding RNA MALAT1 + pmids: + - "26275461" + - text: "Findings suggest that COX-2 deletion contributes to the repression of K-ras-induced lung tumorigenesis by reducing tumor cell proliferation, decreasing the production of PGE2, and increasing the production of 13,14-dihydro-15-keto-PGE2, possibly via the MAPK pathway." + pmids: + - "26452035" + - text: Data show that epidermal growth factor receptor (EGFR)-mediated signaling in mutant KRAS protein (K-ras) pancreatic cancer cells does not follow canonical mitogen-activated protein kinase (MAPK) signaling. + pmids: + - "26262587" + - text: The results suggest a prevalence of KRAS mutation at 42.8% in Indian population. + pmids: + - "26842186" + - text: "This confirms the heterogeneity of KRAS mutations and could suggest to expand KRAS testing in SCC to assess impact of RAS in SCC, which remains poorly investigated." + pmids: + - "26520186" + - text: The concept that cotargeting MEK and CDK4/6 would prove efficacious in KRAS-mutant (KRAS(mt)) colorectal cancers. + pmids: + - "26369631" + - text: "As a consequence, Slug transcription is down-regulated relieving A549 cells from Slug-mediated repression of E-cadherin transcription, thereby diminishing the metastatic potential of these oncogenic Ras-expressing NSCLC cells" + pmids: + - "26810856" + - text: "As depicted in Figure 3, APC (25%) followed by KRAS (20%), TP53 (14%), and PIK3CA (11%) were the most frequently mutated genes." + pmids: + - "26650777" + - text: Overexpression of mTORC1 is associated with pancreatic cancer cells expressing mutant Ras. + pmids: + - "26575954" + - text: These results indicate that CREG1 is a down-stream effector of KRAS in a sub-type of non-small cell lung cancer cells and a novel candidate biomarker or therapeutic target for KRAS mutant non-small cell lung cancer. + pmids: + - "26722374" + - text: KRAS Mutations are associated with Non-Small-Cell Lung Cancer. + pmids: + - "26432508" + - text: The TG/GG of KRAS-LCS (rs61764370) had a benefit from docetaxel treatment compared with the TT allele in terms of PFS. + pmids: + - "26573509" + - text: Data show that Ras protein regulates inhibitor of growth protein 4 (ING4)-thymine-DNA glycosylase (TDG)-Fas protein axis to promote apoptosis resistance in pancreatic cancer. + pmids: + - "26544625" + - text: "KRAS mutations are more common in females and smokers, but are not associated with chronic obstructive pulmonary disease status in non-small cell lung cancer patients." + pmids: + - "27008036" + - text: "use of sorafenib has been ineffective in the management of advanced Colorectal cancer (CRC) patients with KRAS mutation, combination of selective BRAF inhibitors plus EGFR inhibitors may represent a good therapeutic strategy in BRAF-mutant CRC." + pmids: + - "26616508" + - text: mEGFR are associated with higher response rate (RR) to brain metastasis radiotherapy than wild-type EGFR/RAS or mKRAS. + pmids: + - "26616848" + - text: "A high molecular and genetic concordance between primary tumor (PR) and PDX was confirmed by the evaluation of biliary epithelial markers, tissue architecture, genetic aberrations (including K-RAS G12D mutation), and transcriptomic and microRNA profiles" + pmids: + - "26868125" + - text: Aurora kinases are important KRAS targets in lung cancer. + pmids: + - "26842935" + - text: "As an example of the application of this platform we performed the analysis of six common mutations in the codon 12 of KRAS gene (G12A, G12C, G12D, G12R, G12S, and G12V)." + pmids: + - "26655175" + - text: Negative correlation between KRAS mutation and oncological outcome after resection of colorectal liver metastasis. + pmids: + - "26428229" + - text: Data indicate that tumors with proto-oncogene proteins BRAF or KRAS mutations were in correlation with elevated serum level of carbohydrate antigen (CA19-9) and carcinoma embryonic antigen (CEA). + pmids: + - "26530529" + - text: "combined pan-RAF and MEK inhibition can overcome intrinsic and acquired resistance to single-agent RAF/MEK inhibition, supporting dual pan-RAF and MEK inhibition as a novel therapeutic strategy for BRAF- and KRAS-mutant cancers" + pmids: + - "26351322" + - text: We observed no statistically significant association between BC risk and the let-7a KRAS rs712 polymorphism + pmids: + - "26681038" + - text: "In lung adenocarcinomas, EGFR mutation was higher in female and non-smoking patients, KRAS mutation only in patients with wild-type EGFR gene was higher." + pmids: + - "26582224" + - text: our study suggested that black rice anthocyanins extract suppress metastasis in breast cancer cells by targeting the RAS/RAF/MAPK pathway + pmids: + - "26649302" + - text: Kras single nucleotide polymorphisms rs12228277 and rs61761074 of intron 2 result in differential binding patterns of lung nuclear proteins.Rs61761074 demonstrated a significant correlation with allele frequency in non-small-cell lung cancer. + pmids: + - "26648033" + - text: "In three cases of papillary carcinoma arising in struma ovarii (PSCS), novel BRAF and KRAS mutations were identified in two of three tumors suggesting that mutations in PCSO may differ from those commonly identified in papillary carcinoma of the eutopic thyroid." + pmids: + - "26362194" + - text: "No relation was found between the K-ras oncogene mutation and reduced survival, in contrast to what has been established in the international medical literature" + pmids: + - "25216999" + - text: KRAS Mutation is associated with recurrence in Colorectal Liver Metastases. + pmids: + - "26077912" + - text: The KRAS mutated Colorectal Cancers have less aggressive phenotype in comparison to the BRAF-mutated Colorectal Cancers. + pmids: + - "27082577" + - text: "PIK3CA mutations were observed in 32% (8) of the 25 breast cancer tissues examined, Sequencing of exon 2 of KRAS suggested that 20% (5) of the 25 samples harbored a mutation and 16% (4) of BRAF harbored a mutation." + pmids: + - "26600545" + - text: patients with KRAS mutations except for patients with KRAS codon 13 mutations that seem to be resistant to neoadjuvant CRT and less likely to achieve a pCR. + pmids: + - "25702261" + - text: Ras.GDP weakly binds to the catalytic but not to the allosteric site of Sos. + pmids: + - "26565026" + - text: "let-7 is a tumor suppressor that negatively regulates RAS, also in Ewing Sarcoma, and HIF-1alpha may contribute to the aggressive metastatic behavior of Ewing Sarcoma" + pmids: + - "26393682" + - text: The combination of tivantinib and CETIRI was well tolerated but did not significantly improve PFS in previously treated KRAS WT metastatic colorectal cancer + pmids: + - "26891420" + - text: RAS and BRAF wild-type status could help select an elderly and unfit population that could benefit from anti-epidermal growth factor receptor single agent therapy. + pmids: + - "26446234" + - text: KRAS/NRAS mutations are common in mesonephric carcinoma and are often accompanied by gain of 1q and mutations in chromatin remodeling genes + pmids: + - "26336887" + - text: K-Ras mutation is associated with response to chemotherapy in metastatic colorectal cancer. + pmids: + - "26384309" + - text: the presence of KRAS mutations has a mild negative impact on overall survival in advanced NSCLC patient treated with a first-line platinum-containing regimen + pmids: + - "26416458" + - text: KRAS Mutation is associated with response to therapy in Rectal Cancer. + pmids: + - "27064574" + - text: KRAS mutant circulating free DNA was detected in patients with exocrine pancreatic cancer and associated with overall survival. + pmids: + - "26498594" + - text: Here we aimed to investigate the relationship between KRAS rs712 polymorphisms and hepatocellular carcinoma susceptibility + pmids: + - "26535719" + - text: "NF2/merlin inactivation augments mutant RAS signaling by promoting YAP/TEAD-driven transcription of oncogenic and wild-type RAS, resulting in greater MAPK output and increased sensitivity to MEK inhibitors." + pmids: + - "26359368" + - text: Results suggest a different pattern of sensitivity/resistance to cisplatin depending on the Kirsten Ras protein (KRAS) mutational status. + pmids: + - "26353932" + - text: "detection of somatic KRAS A146T and Q61H mutations in 2 out of 4 (50%) sarcomatoid Salivary duct carcinoma variants, is reported." + pmids: + - "26289340" + - text: KRAS mutant lung adenocarcinomas appear to have a more intricate RAS linked signaling network than WT tumors. + pmids: + - "26468985" + - text: "BRAF, NRAS and KRAS gene mutations in plasma cell dyscrasias may have a role MEK-ERK pathway activation" + pmids: + - "26090869" + - text: the RAS mutation in lymphoid cells is tightly linked with various autoimmune symptoms. The presence of the RAS mutation in lymphocytes should be reconsidered as a pathogenesis in cases of autoimmunity. + pmids: + - "26933204" + - text: Colorectal cancer-related mutant KRAS alleles function as positive regulators of autophagy. + pmids: + - "26418750" + - text: conclude that from the point of view of practical KRAS mutation testing for predictive purposes in patients with colorectal cancer + pmids: + - "27179269" + - text: Low incidence of KRAS mutations in adenocarcinomas of the ampulla of Vater suggest no major role in tumorigenesis. + pmids: + - "26997442" + - text: KRAS mutations are not associated with inferior progression-free and overall survival in advanced NSCLC patients treated with standard first-line platinum-based chemotherapy. + pmids: + - "26471290" + - text: The therapeutic potential of PKCiota-ELF3-NOTCH3 signal inhibition to more effectively treat KRAS LADC. + pmids: + - "26977885" + - text: Studies indicate that KRAS and NRAS mutations are currently recognized as the best predictive factors for primary resistance to anti-EGFR monoclonal antibodies. + pmids: + - "26318427" + - text: The incidence of missense mutations in KRAS was much higher in patients with early treatment failure than in other groups + pmids: + - "26009992" + - text: Data suggest that Src kinases inhibitors may act with different mechanisms in non-small cell lung cancer (NSCLC) depending on EGF receptor (EGFR)/Ras protein (Ras) mutational profile. + pmids: + - "26325669" + - text: mTORC1/SREBP pathway is a major mechanism through which common oncogenic signaling events induce de novo lipid synthesis to promote aberrant growth and proliferation of cancer cells + pmids: + - "26028026" + - text: Data show that microRNA miR-365 could inhibit the proliferation and promote the apoptosis in SOSP-9607 osteosarcoma cells probably by mediating the expression of KRAS protein. + pmids: + - "26728377" + - text: CDK1 is a synthetic lethal target for KRAS mutant tumors. + pmids: + - "26881434" + - text: Co-transduction of Kras(G12D) and AML1/ETO induces acute monoblastic leukemia. + pmids: + - "24480914" + - text: The significant association between mutated KRAS and tumor grade suggests that KRAS mutations may be involved in the formation of poorly differentiated clusters (PDC) of neoplastic cells in colorectal cancer + pmids: + - "26352110" + - text: MUC1 expression significantly correlated with that of MYC and its target genes in human KRAS mutant NSCLC tumors. + pmids: + - "26833129" + - text: "anti-EGFR therapy is restricted to KRAS wild-type patients as it has been shown that KRAS exon 2-mutated patients do not respond to this therapy--{REVIEW}" + pmids: + - "26347132" + - text: KRAS mutation neither on primary tumor nor in circulating tumor cells was associated with clinical-pathological parameters in metastatic colorectal cancer. + pmids: + - "26252055" + - text: "Data show that 11/105 patients failed all molecular analysis: no mutations in oncogenes EGFR, KRAS and NRAS were detected, and no ALK gene rearrangements or MET gene amplifications were identified." + pmids: + - "26581482" + - text: "Confirm contribution of PTPRZ1, and especially PTPRQ, in CRC carcinogenesis and demonstrated that PTPRQ expression is correlated with KRAS mutation." + pmids: + - "26851024" + - text: KRAS mutations are associated with nonsmall-cell lung cancer. + pmids: + - "26209642" + - text: "The HSP90 inhibitor, NVP-AUY922, sensitizes KRAS-mutant non-small cell lung cancer with intrinsic resistance to MEK inhibitor, trametinib." + pmids: + - "26723875" + - text: "In operated pancreatic adenocarcinoma, incidence of mutations was: Kirsten rat sarcoma viral oncogene homolong (KRAS) = 87%." + pmids: + - "26754455" + - text: The KRAS gene may contribute to the formation of borderline mucinous cystadenoma. + pmids: + - "26400304" + - text: "KRAS and PIK3CA mutations can influence the response of DLD1 colorectal cancer cell lines to MEK and PI3K inhibitors, but that the effect is dependent on the experimental model used to assess drug sensitivity." + pmids: + - "26820797" + - text: "analysis of HRAS, KRAS and NRAS expression in colorectal tumor cells" + pmids: + - "26560143" + - text: "Meta-analysis: no significant difference between KRAS G13D and other KRAS mutant colorectal tumours in terms of treatment benefit from anti-EGFR mAbs." + pmids: + - "26812186" + - text: "Kras insertion mutations cause reduced intrinsic GTP hydrolysis rates, protein accumulation in the GTP-bound conformation and resistance to GAP-mediated GTP hydrolysis. Kras with switch 2 insertions are impaired for PI3 kinase binding and Akt activation." + pmids: + - "26854029" + - text: miR-1 was suppressed by LMP1 and its tumour-suppressive effects were mediated chiefly by repressing K-ras expression in nasopharyngeal carcinoma. + pmids: + - "26852690" + - text: SLFN11 expression predicts good better survival in colorectal cancer patients with KRAS exon 2 wild type who have received oxaliplatin based adjuvant chemotherapy. + pmids: + - "26525741" + - text: Demonstrate a correlation between occurrence of DPYD gene variant c.496A>G and KRAS wild type status of colorectal cancer tissue. + pmids: + - "26281864" + - text: miR-155 plays an important role in oncogenic K-Ras transformation mediated by cellular redox regulation + pmids: + - "26020803" + - text: KRAS promoter oligonucleotide with decoy activity dimerizes into a unique topology consisting of two G-quadruplex units.Nucleotides of the MAZ binding G-rich motif are dynamic and could be available for sequence or structure based recognition + pmids: + - "26656490" + - text: "Using the extensive guanine-rich region of the kRAS core promoter, and particularly the G4mid structure, future drug discovery programs will have potential to develop a potent, specifically targeted small molecule to be used in the treatment of cancers" + pmids: + - "26597160" + - text: miR-31 directly targets and reduces expression of negative regulators of RAS/MAPK signaling + pmids: + - "26657862" + - text: "Data show that tet methylcytosine dioxygenase 2 TET2, isocitrate dehydrogenases 1/2 IDH1/IDH2, serine/arginine-rich splicing factor 2 SRSF2, splicing factor 3b subunit 1 SF3B1, and ras proteins (KRAS/NRAS) are not conserved in dog mast Cell tumors." + pmids: + - "26562302" + - text: "KRAS and BRAF oncogenes have roles in colorectal cancer development and therapy resistance [review]" + pmids: + - "26299805" + - text: "Elevated calcium levels clinically observed in adenocarcinomas may explain calmodulin's involvement in recruiting and stimulating PI3Kalpha through interaction with its n/cSH2 domains as well as K-Ras4B; importantly, it also explains why K-Ras4B specifically is a key player in ductal carcinomas, such as pancreatic, colorectal, and lung cancers. [Review]" + pmids: + - "26085527" + - text: LGALS9/galectin-9 induces fatal frustrated autophagy in KRAS mutant colon carcinoma that depends on elevated basal autophagic flux + pmids: + - "26086204" + - text: Data suggest bisphenol S binds to K-Ras4B binding pocket previously identified as binding site for various low molecular weight compounds including bisphenol A (another plasticizer/endocrine disruptor). + pmids: + - "26867649" + - text: "The structural data and measurements, obtained herein, indicate that measurable biochemical properties provide clues for identifying KRAS-driven tumors that preferentially signal through RAF." + pmids: + - "26037647" + - text: The high-resolution melting method developed was shown to be a reliable method for KRAS mutation detection + pmids: + - "24859998" + - text: K-Ras stabilization by estrogen via PKCdelta has a role in endometrial tumorigenesis + pmids: + - "26015399" + - text: CREB plays a key role in the K-RAS(V12)-mediated neoplastic phenotype and represents a suitable therapeutic target for murine and human K-RAS(V12)-induced tumors + pmids: + - "25934695" + - text: "Case Report: undifferentiated pleomorphic sarcoma with two missense mutations - KRAS mutation (35G > A, G12D) and PIK3CA mutation (1636C > A, Q546K." + pmids: + - "26339434" + - text: The RAS/MAPK and PI3K/mTOR pathways are activated in the majority of cases of UPS. The RAS/MAPK pathway distinguishes a subgroup of patients with localized UPS with a worse outcome. + pmids: + - "26479291" + - text: FOLFOX adjuvant chemotherapy benefits patients with stage II or III colorectal cancer with KRAS mutant tumors and is worth further investigation + pmids: + - "25864038" + - text: "BRAF and KRAS mutations show together a high prevalence in stage II and III MSI colon cancer and, when combined, are associated with poor survival compared to dWT cancers, which status confers an excellent cancer-specific survival." + pmids: + - "26376292" + - text: EGFR and KRAS mutation status are both predictive factors for the treatment efficacy. + pmids: + - "26055897" + - text: Modulation of Polycomb repressive complexes by either Ezh2 overexpression or Eed deletion enhances KRAS-driven adenomagenesis and inflammation + pmids: + - "26766588" + - text: An inflammatory cue from oncogenic hepatocytes upon induction of kras(V12) expression causes a rapid recruitment of neutrophils to oncogenic liver and the neutrophils play a promoting role in early hepatocarcinogenesis. + pmids: + - "25828472" + - text: Data suggest that over-expression of lincRNA-p21 promotes up-regulation of p21 at both mRNA and protein levels in hepatic stellate cells; expression of lincRNA-p21 and p21 is down-regulated in cirrhotic liver patients as compared to normal subjects. + pmids: + - "26433205" + - text: Patients with CRC and KRAS wt may derive greater survival benefit from (90)Y radioembolization therapy than patients with KRAS mutant. + pmids: + - "26210240" + - text: "Report a mutation spectrum that includes GNAS, KRAS and TP53 may be shared by mucinous neoplasms of the appendix." + pmids: + - "26160192" + - text: KRAS activating mutation is relatively low in Korean colorectal cancer patients. + pmids: + - "25997687" + - text: MEK1/2 inhibitor trametinib showed similar PFS and a response rate as docetaxel in patients with previously treated KRAS-mutant-positive non-small cell lung carcinoma. + pmids: + - "25722381" + - text: Report KRAS mutations/copy number variations and chromosome aberrations in colorectal adenocarcinomas. + pmids: + - "26122820" + - text: Addition of cetuximab to GEMOX chemotherapy improved progress-free survival in biliary tract neoplasms but this did not correlate with KRAS mutation status. + pmids: + - "25632066" + - text: this study was unable to confirm that KRAS-driven tumor lines require macroautophagy for growth. + pmids: + - "26677873" + - text: "study concluded that 26% of patients had detectable FLT3-ITD or RAS mutation at transformation from myelodysplastic syndrome to acute myeloid leukemia, and these mutations were associated with very poor outcome" + pmids: + - "26547258" + - text: "CYP1B1, KRAS and MTHFR variants are associated with shorter telomere length in postmenopausal women" + pmids: + - "25987236" + - text: KRAS gene mutations may have a prognostic role in colorectal cancer + pmids: + - "26429158" + - text: "KRAS mutation may occur with MSI in colorectal cancers with wild-type BRAF. If a mutation in KRAS co-exists with MSI, then strong methylation of the MLH1 gene is unlikely" + pmids: + - "26523369" + - text: This study revealed that specific epidemiologic and clinicopathologic characteristics are associated with mismatch repair status stratified by KRAS mutation. + pmids: + - "26042813" + - text: Determination of mutated KRAS seems to be of limited value in predicting long-term outcome in adenoma in the major duodenal papilla. + pmids: + - "25971870" + - text: The incidence of KRAS mutations in Chinese patients with Esophageal Squamous Cell Carcinoma was not low. KRAS mutations were mainly located in codon 12. + pmids: + - "21615826" + - text: Differences in the KRAS mutational status during colorectal cancer disease progression. + pmids: + - "25248721" + - text: "Meta-analysis: robust estimates of overall RAS mutation prevalence and individual variation patterns in metastatic colorectal cancer patients." + pmids: + - "26049686" + - text: "EGFR and KRAS mutations were low in lung squamous cell carcinomas, and had no significant correlation with clinical features." + pmids: + - "26483334" + - text: Colon cancers from Asians have a lower rate of KRAS mutations than blacks or whites. + pmids: + - "26160882" + - text: "KRAS 3'-UTR rs712 polymorphism interfered with has-let-7g/mRNA interaction, and showed that the minor allele was associated with an elevated risk for development of lung cancer in COPD." + pmids: + - "26316738" + - text: KRAS mutations and SEPT9 promoter methylation were present in 34% (29/85) and in 82% (70/85) of primary tumor tissue samples. + pmids: + - "25946211" + - text: KRAS mutations are indicators of malignant transition in the progression to lung adenocarcinoma. + pmids: + - "26374070" + - text: "Our data show that combined targeting of MEK and PI3K-AKT with mTOR is a better option than single agents alone for KRAS mutant NSCLC, thus opening the possibility of a beneficial treatment strategy in the future." + pmids: + - "26108998" + - text: KRAS mutations are usually present in the majority of metastatic colorectal cancer cells. + pmids: + - "25851630" + - text: PIK3CA amplification may be an early and important event in colorectal carcinogenesis and may drive the development of left-side tubular adenomas independently with KRAS mutation. + pmids: + - "26019684" + - text: "Results show that KRAS expression is downregulated by miR-193b that targets its 3'-UTR in pancreatic ductal adenocarcinoma and dysregulation of the miR-193b-KRAS axis appears to be involved in pancreatic carcinogenesis." + pmids: + - "25905463" + - text: "In SW48 cells, exon 2 mutations of the KRAS gene may influence antitumor effects of regorafenib." + pmids: + - "26161928" + - text: KRAS mutation status seems to identify two different subtypes of pancreatic ductal adenocarcinoma with similar outcome but distinct molecular features and probably different therapeutic targets. + pmids: + - "26161927" + - text: The data suggest a role for redox-dependent activation of wild-type KRAS through cysteine 118 in oncogenic HRAS-driven tumorigenesis. + pmids: + - "25902334" + - text: KRAS mutational status can be determined in biopsies representing bronchial pulmonary carcinomas because when a mutation is present it is generally present in all the histological patterns + pmids: + - "25926253" + - text: "KRAS(G12V)-transformed cells in transgenic zebrafish showed activation of the ERK-MAP kinase pathway and expressed the zebrafish homologue for human CXCL8, a cytokine produced by mammalian Ras-transformed cells in tumor-associated inflammatory lesions." + pmids: + - "25798815" + - text: K-Ras self-association can regulate effector binding and activity. + pmids: + - "26051715" + - text: Estrogen withdrawal and a low estrogen state increase breast cancer risk in women with the KRAS-variant. + pmids: + - "25961464" + - text: Studied the role of PAK1/Crk axis in transduction of the oncogenic KRAS signal in non-small cell lung cancer (NSCLC). + pmids: + - "25956913" + - text: "miR-10b was selectively increased in exosomes of cells with wild-type KRAS, while miR-100 was increased in exosomes of cells with mutant KRAS." + pmids: + - "26132860" + - text: "Tissue micro array availability, BRAF mutation and KRAS mutation were all independent prognostic factors for colorectal cancer survival." + pmids: + - "26121270" + - text: "cyclin D1 expression cooperates with KRAS and PTEN alterations in pathogenesis of NSCLC, and they could serve as potential multiple molecular markers for specific subgroups of NSCLC patients as well as prognostic markers for this type of cancer." + pmids: + - "26055143" + - text: "data suggest one-step screening platform for KIF5B-RET as well as EGFR, K-RAS, ALK oncogenic mutations be necessary for lung adenocarcinoma patients" + pmids: + - "26268359" + - text: "Study reports that oncogenic K-Ras, but not H-Ras, suppresses non-canonical Wnt/Ca(2+) signaling, an effect that contributes strongly to its tumorigenic properties." + pmids: + - "26590425" + - text: "Data indicate that KRAS protein mutation detection in archival tumour tissue showed no correlation to survival, whereas plasma KRAS status remained a strong predictive and prognostic factor." + pmids: + - "26508156" + - text: KRAS mutations were associated with poorer overall survival of patients with pediatric B cell precursor acute lymphoblastic leukemia. + pmids: + - "24067137" + - text: "Secondly, we show the molecular consequences of allele imbalance by deletion of either, a wild-type or a mutant allele in KRASG13D/WT CRC cells" + pmids: + - "26110767" + - text: Latin American populations had a low frequency of KRAS mutations compared with European/North American populations. + pmids: + - "25634006" + - text: GTP Binding and Oncogenic Mutations May Attenuate Hypervariable Region (HVR)-Catalytic Domain Interactions in Small GTPase K-Ras4B + pmids: + - "26453300" + - text: activated K-Ras regulation of brain neural stem cells proliferation requires Raf binding and suppression of retinoblastoma (Rb) function + pmids: + - "25788415" + - text: "Each mutation generates a distinct signature, with the most variability seen between G13D and the codon 12 KRAS mutants" + pmids: + - "25599653" + - text: This study suggests that patients with mCRC with KRAS-mutated subclones (at least those with a KRAS-mutated subclones fraction lower or equal to 1%) had a benefit from anti-EGFR therapies. + pmids: + - "25248381" + - text: "Oncogenic KRAS sensitizes premalignant, but not malignant cells, to Noxa-dependent apoptosis through the activation of the MEK/ERK pathway." + pmids: + - "26028667" + - text: KRAS mutations were associated with stage IV lung adenocarcinoma adrenal metastases. + pmids: + - "25695224" + - text: KRAS gene mutation is associated with non small cell lung carcinoma. + pmids: + - "25637496" + - text: KRAS mutation is associated with metastatic lung adenocarcinomas. + pmids: + - "25415430" + - text: KRAS mutation is associated with endometrial carcinomas and concomitant hyperplasia. + pmids: + - "25768080" + - text: "In transgenic mice programmed to express both mutant oncogenes in the lung epithelium, the resulting tumors express either the KRAS, or the EGFR oncogene." + pmids: + - "26047463" + - text: "Data show that RAS protein activation was the initiating oncogenic event, with polycomb repressive complex 2 (PRC2) subunits impairment being a secondary event." + pmids: + - "26457648" + - text: "Deacetylation of K-Ras by Sirt1 increased the transformation of Ras-GTP to Ras-GDP, promoting the activation of downstream of ERK1/2. In reverse, Ras/ERK pathway could also regulate Sirt1 transcription." + pmids: + - "25894374" + - text: our studies suggest that Ras activation is a key determinant for dissemination and poor prognosis of ERalpha(+)/luminal breast cancer in humans + pmids: + - "26400062" + - text: High mesothelin expression was strongly associated with mutant KRAS/wild-type EGFR and poor prognosis in advanced lung cancer. + pmids: + - "26028668" + - text: Our results indicate that KRAS mutations are associated with inferior survival benefits for Non-Small Cell Lung Cancer but not for those treated with chemotherapies integrating cetuximab. + pmids: + - "26028111" + - text: Findings suggest that a high frequency of K-ras mutations occurs in Chinese metastatic colorectal cancer patients and that K-ras mutation is required to select patients for eligibility for cetuximab therapy. + pmids: + - "25950441" + - text: KRAS mutations are associated with poor prognosis in Non-Small Cell Lung Cancer patients. Good diagnostic performance obtained from Malignant pleural effusion samples for detecting KRAS mutations. + pmids: + - "25302858" + - text: "KRAS mutations portend a worse outcome with increased risk of recurrence in early-stage Non-small cell lung cancer and poorer survival in metastatic stage. It is associated with Adenocarcinoma subtype and smoking, and is common in Caucasian patients." + pmids: + - "25689095" + - text: Tumor mutant KRAS status is associated with an increased risk of venous thromboembolism in patients with metastatic colorectal cancer. + pmids: + - "25809746" + - text: "MEKi induced the expression of negative regulators of mTORC1, including TSC1, TSC2 and Deptor, which occurred more significantly in BRaf-mutant cells than in KRas-mutant cells." + pmids: + - "25703330" + - text: "The prognostic significance of KRAS gene mutations, evaluated by using two methods in patients with colorectal cancer, is reported." + pmids: + - "25713627" + - text: The results suggested that KRAS mutation could be associated with a reduced efficacy of chemoradiotherapy and a shortened survival time. + pmids: + - "26177347" + - text: "The presence of K-Ras mutations has prognostic value in colon cancer patients, and also predicts the responsiveness to inhibitors of EGFR signaling." + pmids: + - "24219000" + - text: "The prevalence of oncogenic RAS mutations was higher among Arab Asian children than in other countries. RAS mutations in AML were found to coexist with other genetic aberrations, particularly MLL rearrangement" + pmids: + - "26222068" + - text: "Although, the KRAS LCS6 is neither constitutional nor somatic biomarker for endometriosis, increased expression ratio of KRAS mRNA indicates its role in the implantation of endometrial tissue outside the uterine cavity." + pmids: + - "25361550" + - text: KRAS mutations are associated with response to chemotherapy in colorectal cancer. + pmids: + - "25628445" + - text: KRAS mutations are associated with Metastatic Colorectal Cancer. + pmids: + - "25666295" + - text: "Transfection of constitutively activated K-rasG12V in pancreatic cancer cells led to the transcriptional upregulation of MUC4 at the transcriptional level by AP-1, MAPK, JNK and NF-kappaB pathways and at the posttranscriptional level by RalB GTPase." + pmids: + - "26477488" + - text: "RAS-positive thyroid nodules, especially in older individuals, frequently demonstrate a benign phenotype.Cytologically benign nodules, even if RAS-positive, may be candidates for a non-operative observational strategy" + pmids: + - "26253102" + - text: KRAS mutations are frequent in our series of microsatellite instable cancers cases and are often found in a subpopulation of the tumour and not in the whole tumour + pmids: + - "26318594" + - text: RAS mutations are associated with colorectal carcinoma. + pmids: + - "26163758" + - text: the Eprobe system had a higher sensitivity for detecting KRAS mutations in colorectal cancer patient samples; these mutations could not be identified by Sanger sequencing + pmids: + - "25823645" + - text: "The aim of this study was to evaluate the prognostic role of MMR status, BRAF mutations and specific KRAS point mutation in 762 patients in Chinese population, and several clinicopathologic features to better stratify colorectal cancer patients" + pmids: + - "25929517" + - text: "A high rate of homozygous and heterozygous mutations of codon 12, but not codon 13 and 61, may influence the invasive ductal carcinoma of breast risk in the South Indian population." + pmids: + - "25921169" + - text: "Risk of recurrence was significantly lower for non-KRAS G12V (HR: 0.01, (0.001-0.08), P<0.0001)." + pmids: + - "26372703" + - text: Overexpression of mutant KRAS in Caco-2 cells led to an increase in CIP2A expression and cell proliferation. + pmids: + - "25896895" + - text: The presence of a KRAS mutation in colon cancer patients increases the likelihood of disseminated disease. + pmids: + - "25884297" + - text: "HER2 gene amplifications, and wild type KRAS genes are common in eyelid sebaceous carcinomas" + pmids: + - "25468813" + - text: KRAS amplification confers resistance to ROS1 targeting drugs in lung cancer. + pmids: + - "25691052" + - text: high-resolution melt and allele-specific PCR could detect as low as 1.25% KRAS- or BRAF-mutant alleles. + pmids: + - "25605225" + - text: The frequency of mutations in either KRAS or PIK3CA were significantly higher in patients without lymph node metastasis than those with. + pmids: + - "25815786" + - text: Vitamin C is selectively toxic to cells with mutant KRAS or BRAF alleles. + pmids: + - "26541605" + - text: "Among 264 patients, mutations in KRAS exon 2, KRAS exons 3 or 4, NRAS, BRAF and PIK3CA were detected in 34.1%, 3.8%, 4.2%, 5.4% and 6.4%, respectively. Thus, a total of 12.1% of patients without KRAS exon 2 mutations had other RAS mutations" + pmids: + - "25886136" + - text: Missense mutations were identified in the BRAF and KRAS genes in cutaneous melanoma cell line. + pmids: + - "25515650" + - text: "The K-ras mutational status of the primary colorectal cancer differed from that of the liver metastasis, and codon 13 mutations may explain such discrepancies." + pmids: + - "26026309" + - text: KRAS gene mutations were detected 11 of 24 cases in exon 4 mutations. + pmids: + - "25412182" + - text: This expert group recommends testing for KRAS and NRAS status in all patients with metastatic CRC being considered for anti-epidermal growth factor receptor (anti-EGFR) therapy + pmids: + - "25373533" + - text: BCL-XL up-regulation by STAT3 contributes to mutant KRAS-mediated apoptosis resistance. Such resistance can be overcome by potent BIM induction and concurrent BCL-XL antagonism + pmids: + - "26245900" + - text: LRP6 phosphorylation by ERK1/2 may provide a unique point of convergence between KRAS/MAPK and Wnt/beta-catenin signalings during oncogenesis + pmids: + - "25500543" + - text: mir206 targets ANXA2 and KRAS genes in pancreatic adenocarcinoma. + pmids: + - "25500542" + - text: "in different macroscopic subtypes of colorectal adenoma, KRAS mutation was noted more frequently in lateral spreading tumors than polypoid neoplasms; mutations in KRAS, BRAF or PIK3CA occurred in a mutually exclusive manner" + pmids: + - "25551625" + - text: KRAS codon 12 mutations specifically G12V and G12S mutations were associated with worse prognosis after resection of colorectal liver metastasis especially among patients with recurrence after surgery. + pmids: + - "26038887" + - text: "Based on our findings, we conclude that the hybcell-based compact sequencing technology represents a valuable alternative to the existing methods used for the detection of clinically relevant point mutations in the KRAS gene" + pmids: + - "25757545" + - text: Report low frequency of KRAS mutation in pancreatic ductal adenocarcinomas in Korean patients. + pmids: + - "25513781" + - text: KRAS mutations in both tumor tissue and plasma are a strong prognostic marker for poor outcomes in metastatic colorectal cancer. + pmids: + - "25491325" + - text: Data show that small molecule protein kinase inhibitor DEL-22379 blocks proliferation of tumor cells harboring RAS-ERK pathway oncogenes. + pmids: + - "26267534" + - text: EGFR and KRAS mutation were associated with non-small cell lung carcinoma. + pmids: + - "25936883" + - text: scFv(CD44v6)-conjugated nanocarriers provide a highly efficient and safe platform for KRAS suppression in pancreatic cancer. + pmids: + - "25401377" + - text: "ABL phosphorylates tyrosine 137 of H-, K-, and NRAS." + pmids: + - "25999467" + - text: (18)F-FDG PET/CT scans may be useful for predicting the KRAS status of metastatic CRC and help in determining the therapeutic strategies against metastatic CRC. + pmids: + - "26135109" + - text: this is the first study focused on the effect of statins in selected patients with advanced-stage NSCLC harbouring KRAS mutation treated with EGFR-TKIs. A randomized prospective clinical trial should be conducted to confirm our results in the future. + pmids: + - "25702091" + - text: KRAS and EGFR co-mutation was detected in one case. PPMA patients with ALK rearrangements or KRAS mutation represent a unique subtype in Non-Small-Cell Lung Carcinoma + pmids: + - "25813151" + - text: gLCR has the capacity to detect one mutated allele in an excess of at least one million wild type alleles (0.0001 %) and is therefore an ideal technique for confirming doubtful KRAS mutation screening results obtained by other techniques + pmids: + - "25813150" + - text: K-Ras 4A expression was 2.7-fold higher in endometriosis than non-endometriosis eutopic samples; this overexpression mainly occurs through the proliferative phase of menstrual cycle + pmids: + - "25537670" + - text: K-RAS Mutation is associated with non small cell lung cancer. + pmids: + - "24956168" + - text: These results supported the role of the KRAS rs712 polymorphism as a potential genetic biomarker for the extension of papillary thyroid cancer. + pmids: + - "25201577" + - text: "IRS2 copy number gain, IGF-1R, IR-A, and IGFBP6 RNA expression levels, and KRAS and BRAF mutational status were identified as candidate predictive biomarkers for response to BMS-754807." + pmids: + - "25527633" + - text: KRAS mutations are associated with recurrence in hyperdiploid acute lymphoblastic leukemia. + pmids: + - "25917266" + - text: Mutations in KRAS exon 2 (codon 12/13) are an established predictor of lack of response to the anti-EGFR monoclonal antibodies cetuximab and panitumumab in patients with metastatic Colorectal cancer. + pmids: + - "26220150" + - text: "The frequencies of KRAS and IDHs mutations, which are associated with poor disease-free survival, were significantly higher in hepatitis-negative LCBs" + pmids: + - "25636086" + - text: Data show that RAS-MAPK pathway mutations may function as a biomarker for new therapeutic approaches to refractory disease. + pmids: + - "26121087" + - text: These findings indicate that miR-143/145 rs4705343 and KRAS rs712 may contribute to the etiology of Cervical Squamous Cell Carcinoma in Chinese women. + pmids: + - "26252302" + - text: The KRAS mutation status does not influence the tumor response to the radiotherapy and survival in locally advanced rectal cancer patients who received preoperative chemoradiotherapy and curative surgery. + pmids: + - "26252300" + - text: Data suggest that detection of the c.34G>T KRAS transversion could imply biallelic germline mutY DNA glycosylase MUTYH mutation and lead to genetic counseling. + pmids: + - "26056087" + - text: DNA mutational analysis in lebanese population shows that mutations of EGFR and KRAS are present in 8.5% and 37.7% respectivement in lung adenocarcinoma. + pmids: + - "25120214" + - text: "KRAS showed a direct connection to numerous cancer-related pathways, such as MAPK signaling pathway, suggesting that it may be a central communication hub in breast cancer." + pmids: + - "25137136" + - text: in pancreatic undifferentiated rhabdoid carcinomas the pleomorphic giant cell subtype is characterized by KRAS alterations and the anaplastic monomorphic subtype correlates with the absence of KRAS alterations + pmids: + - "25103069" + - text: The loss of the wild-type KRAS allele may be a common secondary genetic change in KRAS-related JMML and may affect the differentiation behavior of early JMML progenitors. + pmids: + - "24766281" + - text: KRAS mutation is associated with response to chemotherapy in colorectal liver metastases. + pmids: + - "25227306" + - text: Mutations in KRAS exons 3 and 4 predict resistance to anti-EGFR therapies. + pmids: + - "24666267" + - text: "HPV presence was not associated with age, stage or grade of tumours, MSI or mutations in KRAS, TP53 or BRAF genes." + pmids: + - "25647260" + - text: KRAS mutations are associated with response to chemotherapy in cancer. + pmids: + - "24947927" + - text: These findings indicate that KRAS/MAPK1 amplification is critical for the growth of a subset of type II ovarian carcinomas. + pmids: + - "23820584" + - text: KRAS mutation is associated with pancreatic mucinous cysts. + pmids: + - "24938521" + - text: "study surveyed the ability of 12 different oncogenic KRAS mutations to induce pancreatic tumors in an in vivo tumorigenesis assay; results suggest the spectrum of KRAS mutations observed in human pancreatic cancer reflects selection based on variable tumorigenic capacities, including ability to activate MAPK/ERK signaling" + pmids: + - "25065594" + - text: Results suggest that WT1 and c-MYC expression is important for survival in KRAS mutant tumors as opposed to KRAS wild-type non-small cell lung tumors. + pmids: + - "25613309" + - text: "A let-7 microRNA-complementary site (LCS6) polymorphism in the 3' untranslated region of the KRAS gene has been shown to disrupt let-7 binding and upregulate KRAS expression in colon cancer." + pmids: + - "24727325" + - text: "Case Report: coexisting KRAS/NRAS mutations in caecal adenocarcinoma and contiguous tubulovillous adenoma." + pmids: + - "25926041" + - text: "The results from this prospective cohort study further support an influence of sex and lifestyle factors on different pathways of colorectal carcinogenesis, defined by KRAS and BRAF mutation status of the tumours." + pmids: + - "24918610" + - text: In patients receiving selumetinib+docetaxel and harbouring KRAS G12C or G12V mutations there were trends towards greater improvement in overall survival + pmids: + - "26125448" + - text: KRAS codon 12 and 13 mutations are associated with pancreatic adenocarcinoma. + pmids: + - "25605154" + - text: "In patients with mutant KRAS codon 13, the mOS was not significantly different." + pmids: + - "26124380" + - text: Report high rates of KRAS mutations in Chinese colorectal carcinoma patients. + pmids: + - "25663779" + - text: miR-21 promotes malignant behaviors of colon cancer cells by regulating RASA1 expression via RAS pathways. + pmids: + - "25663768" + - text: KRAS-mutation is associated with non-small cell lung cancer. + pmids: + - "24893629" + - text: "The adenocarcinoma showed expression of CK20 and p53, but CK7 in patches. The molecular profile of the adenocarcinoma showed a mutation in KRAS and wild-type BRAF, which might be associated with malignant transformation of intracranial mature teratomas." + pmids: + - "25039399" + - text: "KRAS and BRAF mutations are associated with inferior survival, independent of MSI status, in Japanese patients with curatively resected colorectal carcinoma." + pmids: + - "25632202" + - text: "KRAS is a critical regulator for the metastatic behavior associated with mesenchymal features of breast cancer cells, implicating a novel therapeutic target for basal-type breast cancer." + pmids: + - "25633745" + - text: "NQO1 expression was significantly more frequent in non-small cell lung carcinoma patients with KRAS mutations, suggesting that oxidative stress may be important in the pathogenesis, worse prognosis, and resistance to treatment reported in these patients." + pmids: + - "25222473" + - text: "KRAS oncogene mutations originated from the guanosine nucleotide and over half of all transversions in lung cancer and colorectal cancer were c.34 G>T and c.35 G>T, respectively. c.35 G>A was the most frequent type of transition in both cancers." + pmids: + - "25158139" + - text: KRAS mutations occur in rare gastrointestinal stromal tumors with wild type KIT and PDGFRA. + pmids: + - "25427437" + - text: Report mutations in SNP loci of K-RAS in neoplastic intestinal polyps and colorectal cancer. + pmids: + - "25561800" + - text: High MACC1 expression in combination with mutated KRAS G13 indicates poor survival of colorectal cancer patients + pmids: + - "25742883" + - text: "There is 20.3% KRAS discordance between primary and recurrent colorectal tumors, which is higher rate than is generally known." + pmids: + - "26031776" + - text: "APC, KRAS, and TP53 gene mutations were more common in colorectal cancer than in stomach cancer" + pmids: + - "24861525" + - text: Mutant KRAS-induced expression of ICAM-1 in pancreatic acinar cells causes attraction of macrophages to expedite the formation of precancerous lesions. + pmids: + - "25361845" + - text: Suggest common mutations of the KRAS gene can be used as an early determining marker for early diagnosis of prostate adenocarcinoma. + pmids: + - "26299074" + - text: "In multivariable analyses, in both patients with EGFR-mutant and KRAS-mutant lung adenocarcinomas, advanced stage at the time of diagnosis was found to be independently associated with shorter survival." + pmids: + - "25781862" + - text: KRAS exon 2 mutations are independent predictors of shorter time to recurrence in patients with resected stage III distal colon cancers receiving adjuvant therapy + pmids: + - "25294886" + - text: KRAS mutation analysis may offer additional discriminatory power in separating benign microglandular hyperplasia from endometrial adenocarcinoma with microglandular pattern. + pmids: + - "25997988" + - text: "In unselected advanced non-small-cell lung cancer patients, KRAS mutations could be used as a potential negative predictor of clinical benefit from epidermal growth factor receptor tyrosine kinase inhibitors.[meta-analysis]" + pmids: + - "25577224" + - text: SMYD3-mediated methylation of MAP3K2 increases mutant K-Ras-induced activation of ERK1/2. (Review) + pmids: + - "25382779" + - text: "The effector-binding region of activated K-RAS4B is occluded by interaction with the membrane in one of the NMR-observable, and thus highly populated, conformational states." + pmids: + - "25941399" + - text: KRAS mutation is associated with high-risk stage II colon cancer. + pmids: + - "24889488" + - text: Suppression of TET1-dependent DNA demethylation is critical for KRAS-mediated transformation. + pmids: + - "25466250" + - text: "Our results suggest that smoking is not a major cause of adenocarcinomas in situ. Rather, smoking may play a role in progression of adenocarcinomas in situ to invasive adenocarcinoma with AIS features" + pmids: + - "25970685" + - text: our study identifies coordinate hyperactivation of Notch1 and Ras/MAPK pathways as novel biomarkers for poor breast cancer outcome. + pmids: + - "25253780" + - text: miR-134 may function as a tumor suppressor in cell proliferation by targeting KRAS in renal cell carcinoma cells. + pmids: + - "25811077" + - text: These findings support a model in which targeting MUC1-C inhibits mutant KRAS signaling in Non-small cell lung cancer cells and thereby reverses the epithelial-mesenchymal transition phenotype and decreases self-renewal. + pmids: + - "25245423" + - text: NRAS and KRAS mutations have a role in Down syndrome acute lymphoblastic leukemia that lacks JAK2 mutations + pmids: + - "25105841" + - text: The results suggest a possible association between KRAS mutations and mucinous differentiation in endometrial carcinogenesis + pmids: + - "25972319" + - text: the first BRAF V600/601 and KRAS G12-K16 screening study in primary mediastinal B-cell lymphoma that failed to identify hotspot mutations in this specific subtype + pmids: + - "24397598" + - text: RAS mutations cause vascular tumors including pyogenic granuloma + pmids: + - "25695684" + - text: mutations are associated with decreased cancer-specific survival after lung stereotactic body radiation therapy for early-stage non-small-cell lung cancer + pmids: + - "25450872" + - text: KRAS mutations are known to promote the emergence of aggressive subclones in the evolution of colorectal cancer. + pmids: + - "24906690" + - text: results indicate MTH1 is a novel and critical component of oncogenic KRAS-associated malignancy and its inhibition is likely to yield significant tumor-suppressive outcomes in KRAS-driven tumors. + pmids: + - "25023700" + - text: These data suggest that disabling of the G1 Q checkpoint could represent a novel vulnerability of cancer cells harboring K-Ras and possibly other mutations that disable the Q-dependent checkpoint. + pmids: + - "25023699" + - text: "In tDNA, 50 mutations (36 EGFR, 5 ERBB2, 4 KRAS, 3 BRAF, and 2 PIK3CA) were identified, of which 26 were detected in cfDNA. These data demonstrate the feasibility and potential utility of mutation screening in the detection of a range of tumor biomarkers" + pmids: + - "25013125" + - text: LKB1 CN in combination with KRAS mutation predicted brain metastasis in NSCLC. + pmids: + - "25224251" + - text: "Amplified PAK1, as well as KRAS amplification/mutation, may represent unique opportunities for developing targeted therapeutics for the treatment of gastric cancer." + pmids: + - "24935174" + - text: "LCS6-variant (of the KRAS gene) patients with metastatic colorectal cancer have an excellent response to anti-EGFR mAb monotherapy, without any benefit from the addition of chemotherapy." + pmids: + - "25183481" + - text: KRAS mutation is associated with refractory metastatic colorectal cancer + pmids: + - "25444464" + - text: EGFR and KRAS mutations were present in adenocarcinoma of the lung but not squamous tumors. + pmids: + - "24866168" + - text: A KRAS or NRAS mutation was found in 31% and 62% of benign hyperplastic thyroid nodules and follicular thyroid carcinomas respectively. + pmids: + - "24866065" + - text: KRAS codon 13 mutations (in particular G13D) are associated with inferior survival in BRAF wild-type colorectal cancers in Chinese patients. + pmids: + - "25367198" + - text: "In this retrospective analysis, triplet chemotherapy with OCX was well tolerated and achieved encouraging efficacy in metastatic colorectal cancer irrespective of RAS/RAF mutation status." + pmids: + - "25427581" + - text: c-Met targeting enhances the effect of irradiation and chemical agents against malignant colon cells harboring a KRAS mutation. + pmids: + - "25427200" + - text: "Neuronal NF1/RAS regulation of cyclic AMP requires atypical PKC zeta activation, which is perturbed in neurofibromatosis type 1." + pmids: + - "25070947" + - text: Chinese colorectal cancer patients with either KRAS or PIK3CA mutations are more susceptible to distant metastasis. + pmids: + - "24861917" + - text: Report KRAS mutation status in colorectal neoplasms and neuroendocrine differentiation in primary/metastatic colorectal neoplasms. + pmids: + - "25337237" + - text: KRAS mutations were more prevalent in tubular-type than colloid-type intraductal papillary mucinous neoplasms-associated invasive carcinoma. + pmids: + - "25840541" + - text: The TG/GG rs61764370 KRAS-variant is a potential predictive biomarker for poor platinum response in recurrent/metastatic head and neck squamous cell carcinoma patients + pmids: + - "25081901" + - text: Activating FGFR2-RAS-BRAF mutations play a critical role in the pathogenesis of most cases of ameloblastoma. + pmids: + - "24993163" + - text: "This helps to clarify the confusing body of literature regarding the clinical implications of the KRAS-LCS6 genetic variant on colorectal cancer outcomes, indicating that it should not be used to personalize therapeutic strategies." + pmids: + - "24890702" + - text: "Targeted sequencing on primary, metastatic, and normal tissue from colorectal cancer patients found a high degree of concordance for KRAS, NRAS, and BRAF mutations that were identical in both the primary and metastatic tumors." + pmids: + - "25164765" + - text: "Meta-analysis found that cetuximab objective response rate (ORR) of metastatic colorectal cancer (mCRC) patients with KRAS mutation was 8%, whereas the ORR of mCRC patients with wild-type KRAS was 34%." + pmids: + - "25155261" + - text: KRAS (G-->A) mutation does not affect in vivo anti-cancer efficacy of cetuximab in gastric cancer xenograft model. + pmids: + - "24467518" + - text: "Study sequenced a large clinical series of patients with metastatic colorectal cancer (mCRC) for RAS and PIK3CA mutations. RAS alterations occurred in 48% of mCRC cases, with mutations within KRAS exon 2 in 43%, KRAS exons 3 and 4 in 3%, and NRAS in 2% of cases. PIK3CA mutations occurred in about 10% of mCRC and were significantly associated with concurrent RAS mutation." + pmids: + - "25491172" + - text: "Case Report: KRAS mutated pancreatic adenocarcinoma developing on treatment with combined BRAF and MEK inhibition for metastatic melanoma." + pmids: + - "24821886" + - text: Binding of RAGE to oncogenic KRAS facilitates hypoxia-inducible factor 1 (HIF1)alpha activation and promotes pancreatic tumor growth under hypoxic conditions. + pmids: + - "25341034" + - text: "Clinicopathologic characteristics, survival outcomes, functional impact, and gene expression profiling were similar between patients with KRAS 12/13 and those with NRAS or KRAS 61/146-mutated colorectal cancers" + pmids: + - "25009008" + - text: The variant G-allele of the KRAS-LCS6 polymorphism was significantly associated with better overall survival in patients with oropharyngeal squamous cell carcinoma + pmids: + - "25127693" + - text: These results suggest that the combination of a selective MEK inhibitor and a PI3K/mTOR inhibitor was effective in CRC harboring with KRAS and PIK3CA mutations. + pmids: + - "25326806" + - text: "Report EGFR expression/KRAS mutations and the effect of EGFR expression on stage, prognosis and response to conventional chemotherapy agents." + pmids: + - "25911864" + - text: "Review\\Meta-analysis: KRAS gene mutation is associated with poorer prognosis in colorectal cancer patients." + pmids: + - "25911860" + - text: Study demonstrated the presence of recurrent GNAS and KRAS mutations in gastric foveolar metaplasia and gastric heterotopia lesions in the duodenum. + pmids: + - "25867268" + - text: Oncogenic KRAS upregulated mir31 in lung carcinogenesis. + pmids: + - "25050641" + - text: "KRAS mutations were detected in 13.6% of the colorectal cancer precursor lesions, namely in adenomas and in hyperplastic polyps, but in no serrated adenoma. In CRC cases, 46.8% exhibited KRAS mutation." + pmids: + - "25050586" + - text: Data show that patients with a mutation in KRAS codon 13 experienced worse outcome than those with a mutation in KRAS codon 12 but both mutations are associated with a significantly higher mortality. + pmids: + - "24859378" + - text: "KRAS mutations in serial blood samples revealed that individual patient's circulatin tumor cells exhibited different mutational status of KRAS during treatment." + pmids: + - "25137394" + - text: Studies indicate that K-RAS gene mutations cause GTPase RAS to remain locked in constitutively active signals through the downstream cascades leading to proliferation. + pmids: + - "24958732" + - text: "KRAS mutant allele-specific imbalance is a significant event in colorectal cancer, specifically associated with G13D mutation, and featuring a heterogeneous spatial distribution, that may have a role to predict the response to EGFR inhibitors." + pmids: + - "25609577" + - text: The frequency of KRAS mutations in metastatic colorectal cancer reported by the major Australian test sites is very similar to that reported by other large overseas studies. + pmids: + - "24811330" + - text: Neither all RAS gene mutation status nor PIK3CA mutation status was prognostic for PFS or OS. + pmids: + - "25742472" + - text: KRAS is an independent prognostic marker in resected stage I lung adenocarcinoma. Differential outcomes are associated with codon and amino acid specific KRAS mutations. + pmids: + - "25122432" + - text: The KRAS rs712 polymorphism in let-7 miRNA binding site has no association with nasopharyngeal carcinoma risk. + pmids: + - "23996697" + - text: miR125a loss may have a role in k-ras dependent lung carcinogenesis + pmids: + - "24913817" + - text: The frequency and characteristics of KRAS gene mutation in Turkish non-small cell lung cancer patients + pmids: + - "24973952" + - text: Data suggest that the K-Ras - JNK1/2 axis could be a potential target in cancer stem cells (CSCs) or proliferating cancer stem-like cells (CSLCs)-directed therapies against pancreatic cancer. + pmids: + - "24947996" + - text: A higher number of gene mutations and the DAXX/ATRX and KRAS gene mutations are correlated with a poor prognosis of Chinese patients with pancreatic neuroendocrine tumors. + pmids: + - "25210493" + - text: Findings indicate that KRAS mutations at codon-12 are associated with different metabolomic profiles that might affect the responses to cancer treatments. + pmids: + - "24952473" + - text: Data indicate that high KRAS gene expression corresponded to low survival rates. + pmids: + - "25076326" + - text: Mutated KRAS and mutated BRAF seem to be prognostic factors in patients with Colorectal cancer who undergo lung metastasectomy. + pmids: + - "25688918" + - text: "Review/Meta-analysis: suggest that rs712 polymorphism in Kras gene 3'-luntranslated region may increase susceptibility to cancer risk in Chinese population." + pmids: + - "25778332" + - text: Report KRAS mutation discordance between primary colorectal nsoplasms and their metastases. + pmids: + - "25778307" + - text: Ras regulates KIF2C to control cell migration pathways in transformed human bronchial epithelial cells. + pmids: + - "24240690" + - text: Data suggest that the status of p53 and KRAS may be considered for the targeted therapy against NF-kappaappa B in lung cancer patients. + pmids: + - "25499080" + - text: The KRAS(G12D) mutation identifies a subset of ampullary adenocarcinoma patients with poor prognoses and may be used to identify patients at risk of early recurrence and poorer survival who may benefit from adjuvant therapy. + pmids: + - "25616942" + - text: Findings demonstrated that oncogenic K-Ras activates the signaling cascade p38/PDPK1/PKCdelta/p47(phox)/NOX1 for ROS generation and consequent malignant cellular transformation. + pmids: + - "24632950" + - text: "KRAS CRC regulates MEK-dependent, ADAM17-mediated shedding of soluble decoy MET." + pmids: + - "24931611" + - text: The frequency of KRAS and BRAF mutations was low; KRAS mutations were detected in 1.6% and BRAF mutations in 4.7% of the biopsies for anal carcinoma. + pmids: + - "25244542" + - text: "The presented data subclassified colorectal cancers (CRCs) based on their activated signaling pathways and identify a role for c-MET and IGF1R-driven PI3K signaling in CRCs, which is superior to KRAS mutational tests alone." + pmids: + - "25090459" + - text: "KRAS mutation is a poor prognostic factor in patients with metastatic colorectal cancer. In KRAS mutation metastatic colorectal cancer, mutation at codon 12 or at codon 13 had no relationship with prognosis." + pmids: + - "25713893" + - text: Lung metastasis was more likely to develop during the disease course in patients whose tumour had a KRAS mutation than in those whose tumour did not have a KRAS mutation. + pmids: + - "25535726" + - text: Activating KRAS mutations were associated with lung cancer. + pmids: + - "24594201" + - text: "results suggest that KRAS mutation may be a useful prognostic marker for patients with metastatic colorectal cancer receiving mFOLFOX6 +/- bevacizumab therapy, especially for patients treated with mFOLFOX6 + bevacizumab" + pmids: + - "25699356" + - text: Only one (2.8%) had a K-ras mutation. + pmids: + - "25041017" + - text: "Suggest that activating mutations of EGFR, HRAS, and KRAS contribute to the pathogenesis of human seborrheic keratosis." + pmids: + - "23739246" + - text: "KRAS, BRAF, and PIK3CA mutations were evaluated in 204 colorectal carcinoma samples; the frequency of KRAS, BRAF, and PIK3CA mutations was 23.5, 9.8, and 5.9 %, respectively." + pmids: + - "25073438" + - text: KRas G12V has higher aggressiveness than KRas G13D in a colorectal cancer model + pmids: + - "25359494" + - text: Clinical relevance of KRAS mutations in predicting the efficacy of cetuximab-containing therapy for metastatic colorectal patients in the Japanese population. + pmids: + - "24013837" + - text: Mutations in KRAS were associated with rectal cancer. + pmids: + - "24700299" + - text: "This study is the first to compare different SMIs in combination with IR for the treatment of K-RAS mutant rectal cancer, and our findings suggest that Chk1/2 inhibitors should be evaluated in new clinical trials for LARC." + pmids: + - "24349411" + - text: "miR-143 and miR-145 and the predicted target proteins API5, ERK5, K-RAS, and IRS-1 display regional differences in expression in the colon" + pmids: + - "25477374" + - text: "KRAS mutations are more common in heavy smokers, and lung adenocarcinomas with KRAS mutation are more likely to invade the visceral pleura." + pmids: + - "24694341" + - text: an MEK1/2 inhibitor potentiated the anti-tumor effects of cisplatin in KRAS-dependent lung cancer cells and an animal model through inhibition of BIM degradation. + pmids: + - "25541062" + - text: "KRAS mutational status could have an impact to the decision to give chemotherapy or EGFR-TKIs as second-line treatment to patients with non-small cell lung cancer, mainly in patients harboring WT-EGFR." + pmids: + - "23538866" + - text: Current approaches for predicting a lack of response to anti-EGFR therapy in KRAS wild-type patients. + pmids: + - "25032217" + - text: oncogenic K-ras and downregulated p16/INK4A in human pancreatic tumorigenesis + pmids: + - "25029561" + - text: activation of the RAS-mitogen-activated protein kinase pathway by BRAF and RAS mutations contributes significantly to the tumorigenesis of sporadic SCAP + pmids: + - "25532942" + - text: Mutated K-ras activates CDK8 to stimulate the epithelial-to-mesenchymal transition in pancreatic cancer in part via the Wnt/beta-catenin signaling pathway. + pmids: + - "25305448" + - text: AKR1B10 is a unique enzyme involved in pancreatic carcinogenesis via modulation of the Kras-E-cadherin pathway. + pmids: + - "25304374" + - text: EGFR or KRAS mutations were detected with xTAG liquidchip technology + pmids: + - "24994038" + - text: KRAS mutations are associated with pseudomyxoma peritonei. + pmids: + - "25274248" + - text: "systemic delivery of MNPsiCDK4 significantly inhibited tumor growth in an A549 NSCLC xenograft murine model, with depressed expression of CDK4 and mutational KRAS status." + pmids: + - "24496383" + - text: Non-invasive QTA can differentiate the presence of K-ras mutation from pan-wildtype NSCLC and is associated with patient survival. + pmids: + - "24987838" + - text: "The cumulative incidence of bone, brain, and lung metastases was significantly higher for patients with KRAS MUT compared with those with KRAS WT." + pmids: + - "25155157" + - text: KRAS mutation in adenocarcinoma of the gastrointestinal type arising from a mature cystic teratoma of the ovary. + pmids: + - "25297496" + - text: KRAS mutations are associated with colorectal cancer. + pmids: + - "24798549" + - text: we identify altered regulation of folate metabolism in KRAS-mutant NSCLC cells that may account for higher antifolate activity in this subtype of NSCLC. + pmids: + - "24688052" + - text: Thyroid nodules with KRAS mutations are different from nodules with NRAS and HRAS mutations with regard to cytopathologic and histopathologic outcome characteristics. + pmids: + - "25132659" + - text: KRAS codons 12 and 13 mutation status was the first validated molecular biomarker for anti-EGFR antibodies + pmids: + - "24956256" + - text: "This study investigated the impact of KRAS, NRAS, BRAF, PI3KCA and TP53 status on outcome of elderly metastatic colorectal cancer patients" + pmids: + - "23821376" + - text: No patients exhibiting phospho-S6rp-positive staining and an activating KRAS mutation demonstrated a prolonged response of everolimus in endometrial cancer. + pmids: + - "24651628" + - text: "Embelin suppresses growth of human pancreatic cancer xenografts, and pancreatic cancer cells isolated from KrasG12D mice by inhibiting Akt and Sonic hedgehog pathways." + pmids: + - "24694877" + - text: "After activating hK-rasG12D gene expression, hK-rasG12D transgenic goat fetal fibroblast cells were transformed into tumorgenesis cells." + pmids: + - "24594684" + - text: Our findings illuminate the mechanistic details of KRAS-mediated drug resistance and provide a preclinical rationale to improve the management of lung tumors harboring KRAS mutations with NRF2 pathway inhibitors. + pmids: + - "25339352" + - text: Mutated KRAS caused higher (18)F-FDG accumulation possibly by upregulation of GLUT1 + pmids: + - "25453050" + - text: Both the CRP single nucleotide polymorphism rs7553007 and KRAS/BRAF mutations were independent prognostic factors for colorectal cancer patients with synchronous liver metastasis. + pmids: + - "23755178" + - text: "None of the 66 tumors harbored mutations in KRAS exon 2, thus excluding KRAS mutations as a common event in squamous cell carcioma of the anogenital and head and neck region and as a cause of p16(INK4a) expression in these tumors." + pmids: + - "25257576" + - text: Results identify miR-134 as a novel RTK-regulated tumor-suppressive hub that mediates RTK and RTK-inhibitor effects on GBM malignancy by controlling KRAS and STAT5B. + pmids: + - "24440911" + - text: Inhibition of proliferation by K-RAS depended on antiproliferative RAS effector RASSF1A and blockade of the RAS-activated proproliferative RAF/MAPK pathway by tumor suppressor menin + pmids: + - "25133424" + - text: "expression of K-Ras and RalB and possibly RalA proteins is critical for maintaining low levels of p53, and down-regulation of these GTPases reactivates p53 by significantly enhancing its stability, contributing to suppression of malignant transformation" + pmids: + - "25210032" + - text: "We show that loss of Scrib and activated oncogenic KRas cooperate in vivo, resulting in more aggressive lung tumors" + pmids: + - "24276238" + - text: The KRAS mutation rate is significantly higher in women than in men and tumors on the right colon have a higher frequency of KRAS mutations than those on the left. + pmids: + - "24642870" + - text: study found incidence of KRAS mutations in metastatic colorectal cancer (mCRC) was similar to that of non-mCRC as previously reported; KRAS codon 13 mutations might be associated with younger female patients with mCRC + pmids: + - "24642668" + - text: The KRAS-variant may be a genetic marker of risk for type 2 endometrial cancers. + pmids: + - "24732316" + - text: "This study indicated that mutations of KRAS, PIK3CA and NRAS were rare in advanced gastric cancer." + pmids: + - "24774510" + - text: Tumors with KRAS mutations in codons 61 and 146 account for an appreciable proportion of colorectal cancers. + pmids: + - "24885062" + - text: Characteristics and prognosis of colorectal cancer with NRAS mutations are different from those with KRAS or BRAF mutations. + pmids: + - "24806883" + - text: There were no clearly pathogenic mutations in the KRAS gene in a cohort with thymic tumors. + pmids: + - "24870739" + - text: Results demonstrated that the SPACE-HRM system we set up is a high sensitive assay that can be used for EGFR and KRAS allele enrichment and reliable detection + pmids: + - "24883309" + - text: KRAS mutations in either codon 12 or 13 are associated with inferior survival in patients with resected stage III colon cancer + pmids: + - "24687927" + - text: KRAS gene mutation is not associated with chronic myeloid leukemia. + pmids: + - "24377583" + - text: "From a practical perspective, small biopsies may not adequately represent a tumor's full mutational profile, particularly for later arising but prognostically important mutations such as those in the KRAS and BRAF genes" + pmids: + - "24742923" + - text: High KRAS mRNA expression is associated with non-small-cell lung cancer growth and progression. + pmids: + - "24389431" + - text: KRAS mutational subtype and copy number is associated with in vitro response of pancreatic cancer cell lines to MEK inhibition. + pmids: + - "25167228" + - text: Report no KRAS mutations in thyroid carcinoma showing thymus-like elements. + pmids: + - "24934485" + - text: The inflammatory cytokine TNFalpha cooperates with Ras in elevating metastasis and turns WT-Ras to a tumor-promoting entity in MCF-7 cells. + pmids: + - "24598028" + - text: "KRAS gene was wild type in 18 cases, whereas one mucinous carcinoma harboured a point mutation at codon 12" + pmids: + - "24454858" + - text: findings identified Yap as a critical oncogenic KRAS effector and a promising therapeutic target for PDAC and possibly other types of KRAS-mutant cancers + pmids: + - "24803537" + - text: PS detection of low-frequency mutations may improve the KRAS predictive value for EGFR therapy selection. + pmids: + - "24799053" + - text: Oxaliplatin-based regimens are more beneficial in KRAS mutant than in KRAS wild-type metastatic colorectal cancer patients. + pmids: + - "24505265" + - text: This study investigated the proteome modulated by oncogenic KRAS in immortalized airway epithelial cells. + pmids: + - "24503901" + - text: No correlation was found between the frequency of cancer recurrence and KRAS mutations in surgical margins + pmids: + - "24629489" + - text: The presence of KRAS mutation in both mucinous adenocarcinoma and complex mucinous changes indicates that KRAS mutational activation is implicated in the pathogenesis of a significant subset of endometrial mucinous carcinoma. + pmids: + - "24186144" + - text: "Although the sensitive pyrosequencing method was used, no EGFR, KRAS or BRAF mutations could be found" + pmids: + - "24560515" + - text: "Data shows that KRAS genotype, specifically the c.35 G>A KRAS mutation, may indicate poor prognosis in metastatic colorectal cancer patients." + pmids: + - "24715238" + - text: "frequency of K-RAS mutations in the Puerto Rican population studied was 39 percent and mutant K-RAS was associated with advanced colorectal cancer stage, mucinous histotype and ulcerated tumors" + pmids: + - "23999847" + - text: "we review the latest published literature specific to KRAS mutation testing techniques--{REVIEW}" + pmids: + - "24534449" + - text: Implementation of KRAS testing did not influence CRC OS. Our data support the use of KRAS testing to guide administration of EGFR inhibitors for treatment of metastatic CRC without diminished OS. + pmids: + - "24788807" + - text: KRAS and BRAF genes were wild-type in all squamous cell anal carcinoma cases. + pmids: + - "24642661" + - text: Reexpression of Let-7g microRNA inhibits the proliferation and migration via K-Ras/HMGA2/snail axis in hepatocellular carcinoma. + pmids: + - "24724096" + - text: "In a Brazilian cohort of patients with metastatic colorectal cancer, tumors had overall percentage of wild-type and mutated KRAS was 62.8% and 31.9%, respectively, with a greater percentage in women." + pmids: + - "24720724" + - text: Report high concordance rate between next generation sequencing and standard testing for KRAS. + pmids: + - "25004944" + - text: "Using an inducible RAS expression system, we show that overexpression of RAS disrupts the circadian clock and leads to an increase of the circadian period while RAS inhibition causes a shortening of period length." + pmids: + - "24875049" + - text: correlation between KRAS or BRAF mutations and prognosis was not observed + pmids: + - "24372748" + - text: "The SMURF2:UBCH5 complex is critical in maintaining KRAS protein stability." + pmids: + - "24709419" + - text: "Findings suggest that miR-200c is a potent inhibitor of tumor progression and therapy resistance, by regulating a multitude of oncogenic pathways including the RAS pathway." + pmids: + - "24368337" + - text: KRAS gene mutations were found in 4 (5%) of 28 patients with squamous cell anal cancer + pmids: + - "24122611" + - text: Results support the role of KRAS mutational status in pancreatic cancer biology and suggest may serve as prognostic marker. + pmids: + - "24681874" + - text: "In KRAS-dependent pancreatic ductal adenocarcinoma cell lines, HNRNPA2B1 interacts with and regulates the activity of KRAS G12V and G12D." + pmids: + - "24998203" + - text: KRAS mutations are at high risk for early pulmonary recurrence in colorectal carcinoma. + pmids: + - "24281417" + - text: significant KRAS mutation discordance between the adenoma and carcinoma component of the colorectal tumor lesion. + pmids: + - "24998492" + - text: "A mutually exclusive pattern of FGFR2, HER2, and KRAS gene amplification and survival trends in gastric cancer patients." + pmids: + - "25086186" + - text: "42% of colorectal cancer tissue samples had KRAS mutations. Their frequency and distribution are similar to those reported in the literature, except for G12C mutation" + pmids: + - "24522420" + - text: Here we report a sensitive and inexpensive assay for KRAS mutations based on a PNA-mediated PCR clamping. + pmids: + - "24242294" + - text: "in lung adenocarcinomas, KRAS mutations are prevalent in male smokers; EGFR mutations are associated with female sex, nonsmoking and lepidic and micropapillary growth; TTF1 has a role in survival; BRAF mutations have roles in survival" + pmids: + - "23988776" + - text: This study shows that 21% of Nigerian colorectal patients carry a KRAS mutation; half the rate in Caucasians. + pmids: + - "23310942" + - text: "KRAS (41%) and PIK3CA (8%) mutations in Colorectal cancer in patient-derived xenograft models closely paralleled patient tumors (35 to 51% KRAS, 12 to 21% PIK3CA)." + pmids: + - "25197873" + - text: "rs712, rs9266, and one novel variant may have a functional role in regulation of KRAS by disrupting complementary sites of various miRNAs, including let-7 and miR-181." + pmids: + - "24552817" + - text: Increased KRAS mutation is associated with colorectal cancer progression and poor response to therapy. + pmids: + - "24659028" + - text: Rasfonin is a robust inhibitor of pancreatic cancers with the K-ras mutation. + pmids: + - "24853419" + - text: A KRAS somatic mutation was identified in 25% (7/28) of the TP53 mutated tumors + pmids: + - "24443225" + - text: "In 14 % of ovarian clear cell carcinomas, a KRAS mutation occurs in codon 2 exon 2." + pmids: + - "24889043" + - text: "Quality control and assurance of KRAS genotyping is critical, and standardization of the methodology is warranted" + pmids: + - "23299277" + - text: Down-regulated expression of K-Ras mRNA. + pmids: + - "23464485" + - text: mutations result in lower disease control rate after the first-line platinum-based chemotherapy + pmids: + - "24439569" + - text: "kras and p53 undergo separate pathways in colorectal tumorogenesis. Interestingly, mutations in the K-ras gene might be considered a valuable prognostic factor correlated to poor outcome" + pmids: + - "24763823" + - text: RAC1b overexpression constitutes a marker of poor prognosis in KRAS/BRAF WT mCRC patients treated with first-line FOLFOX/XELOX therapy. + pmids: + - "24833563" + - text: mutation patterns are quantitatively and qualitatively distinct between non-small-cell lung cancer and colorectal cancer + pmids: + - "24331409" + - text: up-regulation of KIF2C and KIF2A by ERK1/2 caused aberrant lysosomal positioning and mTORC1 activity in a mutant K-Ras-dependent cancer and cancer model. + pmids: + - "25002494" + - text: "Simultaneous diagnostic platform of genotyping EGFR, KRAS, and ALK in 510 Korean patients with non-small-cell lung cancer highlights significantly higher ALK rearrangement rate in advanced stage." + pmids: + - "24888607" + - text: Variable KRAS mutations may have different effects on colon cancers; further studies are needed to verify these results + pmids: + - "24964758" + - text: An antisense oligonucleotide specific to a K-ras point mutation promotes apoptosis in PC-2 cells. + pmids: + - "23828694" + - text: GNAS and KRAS mutations are common in intraductal papillary neoplasms of the bile duct + pmids: + - "24312577" + - text: Studies suggest the potential predictive role of mutant KRAS in the context of chemosensitivity of non-small-cell lung cancer (NSCLC) which may depend on the individual drug types. + pmids: + - "24463346" + - text: Enhanced KRAS activity increases bovine herpesvirus 1 oncolytic capacity in cancer cells. + pmids: + - "24696490" + - text: presence of a K-ras gene mutation was a poor prognostic factor + pmids: + - "23609009" + - text: EGFR and KRAS mutations are frequent in adenocarcinomas and are not prognostic factors for survival. + pmids: + - "23357969" + - text: "our findings suggest that loss of CDKN2A and, to a lesser extent, KRAS and PIK3CA somatic mutations have a role in the progression of a benign to an atypical proliferative Brenner tumor" + pmids: + - "23887305" + - text: "KRAS G12C mutations were associated with primary lung adenocarcinoma, whereas KRAS G12R mutations favored pancreatic adenocarcinoma" + pmids: + - "23887294" + - text: "Primary and recurrent anal cancer expresses wild type KRAS, unaffected by treatment, supporting trials targeting EGFR in poor risk/recurrent anal cancer." + pmids: + - "24021343" + - text: Oncogenic K-Ras and loss of Smad4 mediate invasion by activating an EGFR/NF-kappaB Axis that induces expression of MMP9 and uPA in human pancreas progenitor cells. + pmids: + - "24340014" + - text: "Using a colon cancer cell line, study found 147 genes that promoted survival upon KRAS suppression. In particular, the transcriptional coactivator YAP1 rescued cell viability in KRAS-dependent cells upon suppression of KRAS and was required for KRAS-induced cell transformation." + pmids: + - "24954536" + - text: 7 KRAS mutations were detected in adult Korean patients with acute myeloid leukemia; most common mutation was G-to-A transition in the second base of KRAS codon 13; study could not find any statistical differences of clinical features according to KRAS mutaion status + pmids: + - "24105326" + - text: Knockdown of ACK1 abrogated bosutinib-induced inhibition of cell migration and invasion specifically in KRAS mutant cells. This finding was further confirmed in an in vivo zebrafish metastatic model + pmids: + - "24461128" + - text: KRAS mutations are more common in African Americans than among Caucasians and are associated with advanced stage in colorectal cancer patients. + pmids: + - "24440976" + - text: GNAS mutant colon tumors commonly have synchronous mutations in KRAS. + pmids: + - "24498230" + - text: "We sought to investigate whether mucinous features, such as signet-ring cell feature and extracellular mucin, are associated with EGFR and KRAS mutations in patients with lung adenocarcinoma" + pmids: + - "25029118" + - text: The suppression of K-ras expression by siRNA interfered with this synergism and inhibited both EGFR and Akt activity in A549 cells. + pmids: + - "24399305" + - text: Smad4 represents a barrier in KRAS-mediated malignant transformation of the near normal immortalized human pancreatic duct epithelial (HPDE) cell + pmids: + - "24386371" + - text: miR-27a suppresses tumorigenesis of esophageal squamous cell carcinoma by targeting KRAS. + pmids: + - "24154848" + - text: K-ras gene mutation is not associated with response to chemotherapy in colorectal cancer patients. + pmids: + - "24205021" + - text: KRAS mutation is associated with esophageal squamous cell carcinoma. + pmids: + - "23274581" + - text: "Summing up the results about the KRAS and the BRAF mutation carriers from our study, the portion of potentially non responsive colorectal cancer patients for the anti-EGFR treatment is 28.26%." + pmids: + - "23849768" + - text: KRAS mutation status could be a novel biomarker for predicting disease recurrence in Japanese patients with stage II colorectal cancer . + pmids: + - "23188063" + - text: KRAS mutations are associated with non-small-cell lung cancer. + pmids: + - "24139827" + - text: "Prognosis after progression to firstline FIr-B/FOx may be significantly favourable in MCRC pts re-challenged with intensive regimens, and unfavourable in c.35 G>A KRAS mutant patients." + pmids: + - "24247407" + - text: There was no difference in overall survival after starting EGFR-TKI in patients with KRAS mutation and EGFR/ KRAS WT. + pmids: + - "23922984" + - text: "Androgen-induced AR activating signal upregulates let-7a that targets CMYC and KRAS and contributes to ER-, PR-, AR+ breast cancer pathogenesis." + pmids: + - "24172884" + - text: Blockade of autophagy results in a mutant KRAS-dependent senescence-to-apoptosis switch in cancer cells treated with IR and erlotinib. + pmids: + - "24648348" + - text: "overall genomic and transcriptional landscape of lung adenocarcinoma is affected, but only to a minor extent, by EGFR and KRAS mutation status" + pmids: + - "24205279" + - text: Results suggest that the cancer-associated rs61764370 variant exerts a biological effect not through transcriptional modulation of KRAS but rather by tuning the expression of the microRNA let-7. + pmids: + - "24282149" + - text: "Integrin alpha(v)beta expression and the resulting KRAS-RalB-NF-kappaB pathway were both necessary and sufficient for tumour initiation, anchorage independence, self-renewal and erlotinib resistance." + pmids: + - "24747441" + - text: Two (15%) of 13 patients with MTS were found to harbor a KRAS mutation and loss of MLH1 expression + pmids: + - "24767862" + - text: The combination of lenalidomide and cetuximab appeared to be well tolerated but did not have clinically meaningful activity in KRAS-mutant metastatic colorectal cancer patients. + pmids: + - "24244261" + - text: "While KRAS mutation status per se is neither prognostic nor predictive in stage III-IV lung adenocarcinoma, subtype-specific analysis may indeed identify clinically relevant subgroups of patients that may ultimately influence treatment decisions." + pmids: + - "24768329" + - text: "Case Report: mucinous bronchioloalveolar carcinoma with K-ras mutation arising in type 1 congenital cystic adenomatoid malformation." + pmids: + - "24228126" + - text: RAD21 expression in CRC is associated with aggressive disease especially in KRAS mutant tumours and resistance to chemoradiotherapy. + pmids: + - "24548858" + - text: "K-ras mutations are common among the Saudi colorectal cancer population, especially pG12V and pG12D in codon 12, and are more frequent in sigmoid and rectal adenocarcinomas and stage IVB tumors." + pmids: + - "24675495" + - text: "Data indicate that differentially expressed IL-17, IL-22, and IL-23 levels are associated with K-ras in a stage-specific fashion along colorectal cancer progression and an association was established between mutant K-ras and GM-CSF and IFN-gamma." + pmids: + - "24040001" + - text: Our results suggest that the presence of a KRAS mutation in colorectal carcinoma is associated with alterations in the nuclear morphometric properties of contrast and ellipticity. + pmids: + - "24902368" + - text: "In cytogenetically normal acute myeloid leukemia, activating K-RAS mutations in codons 12, 13, or 61 were detected in 3 of 204 patients. Activating K-RAS mutations may cooperate with mutated NPM1 to induce leukemia." + pmids: + - "24737308" + - text: KRAS mutation status does not seem to represent a strong prognostic variable. + pmids: + - "24073892" + - text: Identification of a novel association of KRAS mutations with solid growth pattern and tumor-infiltrating leukocytes in non-mucinous lung adenocarcinomas. + pmids: + - "23619604" + - text: "mutations in KRAS codon 61, KRAS codon 146, BRAF, NRAS, or PIK3CA detected in Asian patients were not predictive of clinical benefits from cetuximab treatment." + pmids: + - "24006859" + - text: A meta-analysis indicates that K-ras gene mutation analysis is useful for the differential diagnosis of pancreatic adenocarcinomas. + pmids: + - "23660563" + - text: Report the role of KRAS mutations in the detection and classification of pancreatic mucinous neoplasms by endoscopic ultrasound fine-needle aspiration. + pmids: + - "23743931" + - text: KRAS mutation did not have prognostic value in patients with metachronous or synchronous metastatic CRC. + pmids: + - "24330663" + - text: "In prostate cancer, EGFR mutations occur more commonly than KRAS mutations and EGFR and KRAS mutations may be mutually exclusive" + pmids: + - "24595526" + - text: study failed to promote (18)F-FDG PET/CT uptake as a surrogate examination for KRAS mutation testing + pmids: + - "24778079" + - text: "When genotypes of BRAF/KRAS mutated s-BOTs and corresponding implants were compared, no patient presented with a fully matching mutation profile of s-BOT and all corresponding implants." + pmids: + - "24139521" + - text: "Oncogenic KRAS plays a central role in controlling multiple metabolic changes such as stimulation of glucose uptake, differential channeling of glucose intermediates, reprogrammed glutamine metabolism, increased autophagy, and macropinocytosis. (Review)" + pmids: + - "24388967" + - text: Findings support the development of ISG15 conjugation inhibitors for treating breast and also other cancers expressing oncogenic Ki-Ras. + pmids: + - "23318454" + - text: Mutational activation of KRAS does not seem to play any significant role in the development and progression of gastrointestinal stromal tumors. + pmids: + - "23702733" + - text: As second- or later-line treatment of patients with KRAS-mutated metastatic colorectal cancer. + pmids: + - "24407191" + - text: Race was not statistically significantly associated with KRAS mutational status in patients with non small cell lung cancer. + pmids: + - "23806795" + - text: we found that EVI1 upregulated KRAS expression through suppression of miR-96 in pancreatic cancer cells + pmids: + - "23752186" + - text: Gallbladder cancer has a high frequency of K-ras codon 12 mutation with poorer outcomes in resected stage II and III disease. + pmids: + - "23838952" + - text: KRAS mutations are associated with lung cancer. + pmids: + - "23817662" + - text: no significant associations have been detected between KRAS mutations and clinicopathologic variables and MSI in Tunisian patients as previously reported. + pmids: + - "24078161" + - text: Driver mutations among never smoking female lung cancer tissues in China identify unique EGFR and KRAS mutation pattern associated with household coal burning. + pmids: + - "24055406" + - text: Studies suggest that understanding the underlying biology of tumor-stroma interactions and tumor heterogeneity are critical to guiding rational approaches to designing treatments tailored to targeting KRAS in the stroma-rich microenvironment. + pmids: + - "24152947" + - text: the joint presence of CDKN2A methylation and KRAS mutations independently predicted recurrence of cancer and was associated with poor overall and cancer-specific survival. + pmids: + - "24259266" + - text: "In this cetuximab-treated colorectal cancer population, EGFR gain was associated with better outcome and PTEN protein expression with longer TTP in KRAS WT, KRAS WT/AREG high and KRAS/BRAF WT subpopulations" + pmids: + - "24595598" + - text: RAS mutations beyond KRAS exon 2 and 3 were identified in 17% of locally advanced rectal cancer patients. + pmids: + - "24582914" + - text: "Our findings suggest that IL-8 expression is associated with certain clinicopathological features including age and is a potent prognostic marker in lung adenocarcinoma, especially in oncogenic KRAS-driven adenocarcinoma." + pmids: + - "24577055" + - text: expression of oncogenic KRAS shifts the balance of DNA repair toward the highly error-prone alternative nonhomologous end-joining pathway. + pmids: + - "24505083" + - text: KRAS gene insertions represent a diagnostic and clinical challenge due to the difficult and unusual pyrosequencing findings and the lack of information regarding its clinical impact. + pmids: + - "24594115" + - text: This review will focus on the current (EGFR and KRAS mutations)and future biomarkers in the advanced NSCLC field and also address potential related targeted therapies for these patients. + pmids: + - "24192124" + - text: "Review/Meta-analysis: K-ras mutation analysis alone is not recommended for the diagnosis of pancreatic carcinoma." + pmids: + - "24103274" + - text: The PI3K/AKT pathway promotes gefitinib resistance in mutant KRAS lung adenocarcinoma by a deacetylase-dependent mechanism. + pmids: + - "24374738" + - text: "Our findings suggest that in a subset of ductal adenocarcinomas, KRAS mutant allele-specific imbalance correlates with the progression to undifferentiated carcinoma of the pancreas." + pmids: + - "23599154" + - text: "Tumor KRAS has minor clinical impact, whereas plasma KRAS status seems to hold important predictive and prognostic information." + pmids: + - "24263065" + - text: There was a negative correlation between KRAS codon 12 mutations and the level of HLA class I antigens in primary and metastatic tumors. + pmids: + - "23975858" + - text: Identification of double-stranded genomic DNA spanning all chromosomes with mutated KRAS and p53 DNA in the serum exosomes of patients with pancreatic cancer. + pmids: + - "24398677" + - text: Degradation of activated K-Ras orthologue via K-Ras-specific lysine residues is required for cytokinesis. + pmids: + - "24338482" + - text: Small G proteins Rac1 and Ras regulate serine/threonine protein phosphatase 5 (PP5).extracellular signal-regulated kinase (ERK) complexes involved in the feedback regulation of Raf1. + pmids: + - "24371145" + - text: "A protumorigenic role for CLPTM1L that is critical for Ras-driven lung cancers, with potential implications for therapy and chemosensitization." + pmids: + - "24366883" + - text: "KRAS requires S181 phosphorylation to manifest its oncogenic properties, implying that its inhibition represents a relevant target to attack KRAS-driven tumors." + pmids: + - "24371225" + - text: "Mutations of the KRAS gene (exon 2) were detected in 36.3% of cases of CRC, more often in women (41.1%) than in men (31.2%). 8 different types of KRAS mutations were identified, the most frequent replacement of G12D (33.7%), G12V (32.7%) and G13D (12.5%)" + pmids: + - "24624786" + - text: "evaluated mutations in four driver genes, epidermal growth factor receptor (EGFR), Kirsten ras oncogene (KRAS), c-MET, and echinoderm microtubule-associated protein-like 4-anaplastic lymphoma kinase (EML4-ALK), in Chinese lung adenocarcinoma patients" + pmids: + - "23919423" + - text: "In proximal colon lesions, the incidence of KRAS mutations is significantly higher in the granular-type than in the non-granular-type of colorectal laterally spreading tumor." + pmids: + - "23112547" + - text: KRAS mutations are associated with response to chemoradiation in rectal cancer. + pmids: + - "23864308" + - text: "The frequencies of somatic EGFR, KRAS, and ALK gene abnormalities reflect the diverse ethnicity and smoking patterns of non-small-cell lung cancers patients in the United States." + pmids: + - "23932486" + - text: "HB-EGF overexpression and Kras(G12D) together, but neither alone, increase cancer cell proliferation." + pmids: + - "23376846" + - text: "There was significant association (p < 0.05) between KRAS mutations, age and the tumor differentiation." + pmids: + - "23729268" + - text: KRAS mutations in ovarian serous borderline tumour are associated with recurrent low-grade serous carcinoma. + pmids: + - "24549645" + - text: "abnormal [beta]-catenin expression showed an inverse relationship with the presence of KRAS mutations in ovarian endometrioid adenocarcinoma" + pmids: + - "24018808" + - text: Report analysis of KRAS mutations in non-small cell lung carcinomas. + pmids: + - "24040454" + - text: "The frequencies of EGFR, KRAS, BRAF, and HER-2 mutations in BM-NSCLC were 2.6, 38.5, 0, and 0% respectively. The incidence of KRAS mutation was significantly higher in female and younger patients." + pmids: + - "23930206" + - text: Sag is a Kras-cooperating oncogene that promotes lung tumorigenesis + pmids: + - "24430184" + - text: "This study confirmed that KRAS testing is definitely part of the management of most of metastatic colorectal cancer patients, despite discrepancies observed in the rate of prescription and the time of results." + pmids: + - "23473612" + - text: Wild-type H- and N-Ras promote mutant K-Ras-driven tumorigenesis by modulating the DNA damage response. + pmids: + - "24525237" + - text: No associations were found with CRC harboring G>T mutations in KRAS/APC. + pmids: + - "23983135" + - text: KRAS mutation impairs the therapeutic effect exerted by cetuximab-mediated antibody-dependent cellular cytotoxicity + pmids: + - "24136682" + - text: "Study reveals functional and mechanistic links between miRNA-30b and oncogene KRAS, PIK3CD and BCL2 in the pathogenesis of colorectal carcinoma." + pmids: + - "24293274" + - text: KRAS mutation status is predictive of cetuximab response in the Japanese metastatic colorectal cancer patients. + pmids: + - "22638623" + - text: ADM is a new target of oncogenic KRAS in the setting of hypoxia + pmids: + - "24519534" + - text: "K-Ras mutation activates CSCs, contributing to colorectal tumorigenesis and metastasis in CRC cells harboring APC mutations. Initial activation of beta-catenin by APC loss and further enhancement through K-Ras mutation induces CD44, CD133, CD166 expression." + pmids: + - "24491301" + - text: A let-7 KRAS rs712 polymorphism increases colorectal cancer risk. + pmids: + - "23975373" + - text: KRAS mutation did not reduce sensitivity to bortezomib or dexamethasone in myeloma patients. + pmids: + - "24335104" + - text: KRAS mutant subpopulations are present in a large number of thyroid tumors. + pmids: + - "22930660" + - text: KRAS mutations are associated with colorectal neoplasms. + pmids: + - "23978462" + - text: "Data indicate that sp-Erf2/zDHHC9 palmitoylates Ras proteins in a highly selective manner in the trans-Golgi compartment to facilitate PM targeting via the trans-Golgi network, a role that is most certainly critical for Ras-driven tumorigenesis." + pmids: + - "24248599" + - text: KRAS mutations are associated with colonic neoplasms. + pmids: + - "23755925" + - text: "a complex regulatory system involving TP53, KRAS, and let-7a" + pmids: + - "23936455" + - text: Results show that HDAC6 and SIRT2 regulate the acetylation state of K-RAS in cancer cells + pmids: + - "23723075" + - text: This article presents the case of a 64-year-old patient with a glandular papilloma of the right main bronchus including the immunohistochemical and molecular work-up as well as a review of the current literature. + pmids: + - "23263441" + - text: KRAS mutations are associated with colorectal neoplasms. + pmids: + - "23773459" + - text: Functional ALK rearrangements were mutually exclusive with EGFR and KRAS mutations in a large Western patient population. This lack of overlap was also observed in ALK-positive cancers with acquired resistance to crizotinib + pmids: + - "23729361" + - text: "Despite the overlapping clinical features, Rasopathy syndromes exhibit unique fenotypical features and the precise molecular diagnostics may lead to confirmation of each syndrome." + pmids: + - "24156711" + - text: we demonstrate that oncogenic K-Ras is not constitutively active but can be readily activated by upstream stimulants to lead to prolonged strong Ras activity + pmids: + - "23334325" + - text: "Studies indicate that inhibition of targets outside the main KRAS signaling pathway, specifically the cell cycle related kinase PLK1, has been shown have an effect in cells that harbor mutant KRAS." + pmids: + - "23566315" + - text: results indicate that serrated lesions of the appendix often harbor KRAS mutations rather than BRAF mutations and suggest that the serrated pathway in the appendix is likely different than in the colon and rectum + pmids: + - "24439221" + - text: "This case to be the first description of a solitary serrated polyp with KRAS mutation, similar to the lesions occurring as polyposis in longstanding IBD" + pmids: + - "23945926" + - text: "results suggest that the frequency of wild-type KRAS in cancer associated with familial adenomatous polyposis was approximately 40%, although it was lower than that in sporadic cancer" + pmids: + - "24394008" + - text: KRAS mutation is not associated with response to chemotherapy in non-small-cell lung cancer. + pmids: + - "23787801" + - text: Findings support the development of CDK and Raf co-targeting strategies in EGFR/HER-2-overexpressing or RAS/RAF mutant breast cancer (BC). + pmids: + - "23908594" + - text: "We also examined 61 of our cases for the presence of PIK3CA, AKT1, PTEN and K-RAS mutations." + pmids: + - "23728071" + - text: Colorectal cancer patients with low abundance of KRAS mutation may benefit from EGFR antibody therapy. + pmids: + - "23874486" + - text: study demonstrated that mucinous adenocarcinomas with KRAS mutations have clinicopathologic characteristics different from those of mucinous adenocarcinoma without such mutations + pmids: + - "24119562" + - text: identified inositol trisphosphate receptors as unique effectors of K-Ras4B that antagonize the prosurvival signals of other K-Ras effectors. + pmids: + - "24297914" + - text: Mutant KRAS is a druggable target for pancreatic cancer. + pmids: + - "24297898" + - text: "Cigarette smoking did not influence the frequency of KRAS mutations in lung adenocarcinomas in Korean patients, but influenced qualitative differences in the KRAS mutations." + pmids: + - "23709419" + - text: Differences in the regulation of K-Ras and H-Ras isoforms by monoubiquitination. + pmids: + - "24247240" + - text: RAS is the most frequently mutated oncogene in cancers. Isoprenylcysteine carboxylmethyltransferase (ICMT) methylates RAS and other CaaX-containing proteins. + pmids: + - "24216479" + - text: the expression of EGFR protein by immunohistochemistry and KRAS gene mutation at codons 12 and 13 by using paraffin-embedded and formalin-fixed primary tumor tissues from 205 patients with squamous cell carcinoma of the head and neck + pmids: + - "22441881" + - text: The brain microenvironment negatively regulates miRNA-768-3p to enhance K-ras and promote metastasis. + pmids: + - "23928793" + - text: Mutations in different KRAS codons may have different effects on rectal cancer resistance to neoadjuvant chemoradiation therapy + pmids: + - "23456389" + - text: KRAS as a prognostic marker of non-small-cell lung cancer (Review) + pmids: + - "23524403" + - text: Higher frequency of k-ras mutations are associated with endometrial carcinomas with significant mucinous differentiation. + pmids: + - "23851676" + - text: "loss of RASSF1A may be involved in pathogenesis of colorectal cancer (CRC), its expression was found predominantly in K-ras wild-type CRCs." + pmids: + - "23865079" + - text: "Data indicate that coexistence of EML4-ALK fusion or ALK copy number increase and EGFR, MET, and KRAS mutations in tumor tissue from two treatment-naive Chinese non-small cell lung cancer (NSCLC) patients." + pmids: + - "24200637" + - text: study demonstrated that RAS mutations frequently occur in Mixed Lineage Leukemia (MLL)-rearranged infant acute lymphoblastic leukemia (ALL) cases and especially in t(4;11)-positive infant ALL patients and their presence represents an independent poor prognostic factor + pmids: + - "23403319" + - text: "Of 54 intrahepatic cholangiocarcinoma cases, 7.4% were mutant for KRAS, 7.4% were mutant for BRAF, and these were mutually exclusive. These cases were associated with a higher tumor stage and a greater likelihood of lymph node involvement." + pmids: + - "24139215" + - text: Report role of KRAS oncogenetic risk classification in the prognosis of adult T-cell acute lymphoblastic leukemia. + pmids: + - "24166518" + - text: "K-RAS mutations are associated with a worse overall survival in patients with non-small cell lung cancer, especially in patients with adenocarcinoma and early stage." + pmids: + - "23608713" + - text: KRAS mutation status is not a significant prognostic marker in patients with resected non-small-cell lung cancer. + pmids: + - "23630215" + - text: Data indicate that dual targeted inhibitors of PI3K/mTOR in combination with inhibitors of RAS/ERK signalling as a potentially effective approach to treating ovarian cancer. + pmids: + - "24011934" + - text: The detection of activating somatic mutations in gene KRAS using pyrosequencing technique + pmids: + - "24340949" + - text: "KRAS-mutated carcinomas frequently develop in contiguity with a residual polyp and show molecular features distinct from other colorectal carcinomas, in particular from tumors with neither BRAF nor KRAS mutation." + pmids: + - "23348904" + - text: KRAS mutation is not associated with treatment response in rectal cancer. + pmids: + - "23473635" + - text: KRAS status was an independent predictor of overall and recurrence-free survival. + pmids: + - "24104864" + - text: These results suggested KRAS mutations have an independent prognostic value for chemotherapy in advanced non-small cell lung cancer. + pmids: + - "23724098" + - text: KRAS mutations are associated with proliferative thyroid lesions. + pmids: + - "24222113" + - text: Data show that somatic cell knockin of both KRAS G12V and oncogenic PIK3CA mutations in human breast epithelial cells results in cooperative activation of the phosphoinositide 3-kinase (PI3K) and mitogen-activated protein kinase (MAPK) pathways. + pmids: + - "23580570" + - text: data showed that there was no significant difference in the mutation frequency of the KRAS gene between primary and distant metastatic colorectal tumors or lymph node metastatic tumors + pmids: + - "22744738" + - text: This study demonstrated that either BRAF or RAS mutations were present in two thirds of follicular variants of papillary thyroid carcinomas and these mutations were mutually exclusive. + pmids: + - "23625203" + - text: we have shown that patients harbouring KRAS low frequency mutations benefit less than others from anti-EGFR therapy. + pmids: + - "23293113" + - text: KRAS mutation is associated with myelodysplastic syndromes and acute myeloid leukemia. + pmids: + - "23774633" + - text: "Data indicate that of the 32 cardio-facio-cutaneous syndrome (CFC) patients, 28 (88%) had a known mutation in a gene that is causative for CFC, including BRAF (n = 21), MEK1 (n = 2), MEK2 (n = 4), and KRAS (n = 1)." + pmids: + - "22946697" + - text: K-ras mutation status and subtypes may be associated with survival duration in pancreatic cancer patients. + pmids: + - "22983505" + - text: "The mutational spectrum of KRAS exon 1 in bladder tumours, colorectal cancer (CRC) and chronic myeloid leukemia (CML), was analysed." + pmids: + - "23640097" + - text: Stem cells with Kras(G12D) activation and Smad4 depletion can produce tumors that are multipotent and susceptible to epithelial mesenchymal transformation and metastasis. + pmids: + - "23999427" + - text: Data indicate that (4-Chloro-2-(piperidin-1-yl)thiazol-5-yl)(phenyl)methanone and (4-bromo-2-(piperidin-1-yl)thiazol-5-yl)(phenyl)methanone inhibited cell growth through inhibition of both alpha-1 Na(+)/K(+)-ATPase (NAK) and Ras oncogene activity. + pmids: + - "23474907" + - text: Data indicate that epiregulin (EREG) expression significantly correlated with KRAS expression or KRAS copy number in KRAS-mutant non-small-cell lung cancer (NSCLC) cell lines. + pmids: + - "22964644" + - text: "The T allele of the let-7 binding site polymorphism rs712 in KRAS 3' UTR was associated with a significantly increased risk of gastric cancer." + pmids: + - "23729275" + - text: "KRAS mutations,found in smokers, are often activated in lung cancers, with mutations in about 20% of NSCLCs. Most are single amino acid substitutions in codons 12, 13, or 61. It is a negative marker for the efficacy of EGFR TKI in patients with NSCLC" + pmids: + - "23841470" + - text: Data indicate that p38delta mediates oncogene-induced senescence through a p53- and p16(INK4A)-independent mechanism. + pmids: + - "23878395" + - text: "KRAS mutations with synchronous TP53 mutations occur predominantly in low-grade mucinous carcinomas, suggesting a specific molecular background of this ovarian cancer type." + pmids: + - "23965232" + - text: KRAS/NRAS mutation predicts early lung recurrence and worse survival after curative resection of colorectal liver metastases. + pmids: + - "24018645" + - text: demonstrated associations of KRAS mutations with well-differentiated and mucinous ovarian carcinomas. + pmids: + - "23800114" + - text: "Sinonasal intestinal-type adenocarcinomas share common alterations of the EGFR pathway with colorectal adenocarcinomas, except for a lower frequency of KRAS and BRAF mutations." + pmids: + - "23791006" + - text: KRAS mutations are associated with metastatic lung adenocarcinoma. + pmids: + - "23495083" + - text: Standard cytology provides adequate material for the assessment of EGFR and Kras mutational status in non-small cell lung cancer and colorectal cancer patients. + pmids: + - "22833420" + - text: The KRAS mutation rate of Japanese colorectal cancer patients was 37.6%. + pmids: + - "23657052" + - text: KRAS is rather a prognostic than a predictive biomarker in pancreatic cancer + pmids: + - "23435671" + - text: Specific morphologic features in colon cancer suggest a higher likelihood of the presence of KRAS mutations. These morphologic features overlap partially with those associated with DNA mismatch repair gene mutations + pmids: + - "23090042" + - text: "In patients with pancreatic ductal adenocarcinoma, solute carrier transporter (SLC) levels were not found to be associated with KRAS mutation status in exon 2" + pmids: + - "23934321" + - text: "only one mutation (K-Ras codon 13; Gly to Asp) was detected among the 61 hepatocellular carinoma patients studied; findings indicated that the activation of Ras proto-oncogenes by mutations in codons 12, 13 and 61 does not play a major role in hepatocellular carcinogenesis" + pmids: + - "23266750" + - text: We find that LDHB expression correlates to both KRAS genomic copy number gain and KRAS mutation in lung cancer cell lines and adenocarcinomas. + pmids: + - "23224736" + - text: "In patients with colorectal cancer expressing mutant KRAS, high levels of plasma KRAS was associated with early disease progression." + pmids: + - "23514584" + - text: "DAB2IP expression was reduced in patients with pancreatic cancer compared with those with no cancer. DAB2IP expression was correlated with the KRAS gene, perineurial invasion and clinical stage of the disease." + pmids: + - "23558076" + - text: "KRAS destruction by RC-U occurred through a ubiquitin-dependent, proteasome-mediated degradation pathway. RC-U inhibited pancreatic cancer cell growth in vitro and in vivo." + pmids: + - "23288781" + - text: "mutational status of N-RAS and K-RAS genes in a cohort of 504 Chinese acute myeloid leukemia patients; mutation frequency of N-RAS and K-RAS were 9.7 percent and 2.9 percent respectively; concluded RAS mutations are associated with some biologically specific subtypes of AML but don't impact clinical outcome in Chinese patients" + pmids: + - "23313659" + - text: Mutation status of KRAS is the same in primary colorectal neoplasms and metastasis. + pmids: + - "23538047" + - text: Taiwanese patients with metastatic colorectal cancer respond better to a cetuximab plus chemotherapy regime if their tumors have the wild-type KRAS gene + pmids: + - "23790176" + - text: Breast tumors with KRAS codon 12 mutations seem to present a worse prognosis. + pmids: + - "23555992" + - text: "indicate that patients with mutant KRAS tumors fail to benefit from adjuvant chemotherapy and do not respond to EGFR inhibitors[review]" + pmids: + - "23122493" + - text: findings demonstrate that the presence of a K-ras mutation correlated with high initial CEA and CA 19-9 levels in patients with metastatic colorectal cancer + pmids: + - "23625655" + - text: acquired EGFR and KRAS mutations do not constitute the main mechanism of resistance to anti-EGFR mAb + pmids: + - "23765179" + - text: "The association of survival in PDAC patients with CDKN2A aberrations in tumors was not statistically significant, the sub-group with concomitant KRAS mutations and CDKN2A alterations were associated with lower survival." + pmids: + - "23565280" + - text: TIMP1 is an upregulated gene product and a proliferative inducer of K-Ras(G12D)-mutated pancreatic ductal cells through the ERK2 signaling pathway. + pmids: + - "23555182" + - text: "About one fourth of mCRC cases wild-type for KRAS codons 12 and 13 present other mutations either in KRAS, BRAF, or PIK3CA, many of which may explain the lack of response to anti-EGFR therapy observed in a significant proportion of these patients." + pmids: + - "23548132" + - text: Large multicentre study demonstrated that KRAS mutations and DNA MMR deficiency have a role in a small subgroup of gastric cancer. + pmids: + - "23511561" + - text: Results support a role for the PAK4 and PAK1 in the proliferation of mutant KRAS-driven colorectal carcinoma cells via pathways not involving RAF/MEK/ERK and PI3K/AKT signaling + pmids: + - "23233484" + - text: "RAS mutations, in addition to KRAS exon 2 mutations, predict a lack of response to anti-EGFR therapy in patients with metastatic colorectal cancer." + pmids: + - "24024839" + - text: KRAS mutations are associated with lung cancer. + pmids: + - "23392229" + - text: colorectal tumor tissue was analyzed utilizing WAVE mutation analysis to determine if regions of the tumor display heterogeneity in the expression of mutated KRAS and if regions within tissue blocks uniformly display resistant or susceptible phenotypes + pmids: + - "23528430" + - text: The current study demonstrates that the presence of GNAS in combination with KRAS in pancreatic cystic fluid obtained by EUSFNA improves the sensitivity for diagnosis of intraductal papillary mucinous neoplasms + pmids: + - "23498145" + - text: KRAS mutation rate decreased from 4.6% (3/66) to 3.0% (2/66) with Neoadj-Chemo. + pmids: + - "23520442" + - text: KRAS mutations are associated with solid predominant lung tumors. + pmids: + - "23486266" + - text: KRAS mutations in codons 12 and 13 of exon 2 in one hundred formalin-fixed paraffin-embedded (FFPE) colorectal cancer samples by three different methods + pmids: + - "22865324" + - text: Red blood cell folic acid is significantly deficient in colorectal cancer patients with K-ras mutations. + pmids: + - "22929917" + - text: "KRAS mutations, detected in pancreatic cyst fluid, are associated with mucinous cysts and progression and development of malignancy and should be considered in assessing pancreatic cysts." + pmids: + - "23267865" + - text: Adding panitumumab to irinotecan did not improve the overall survival of patients with wild-type KRAS tumours. + pmids: + - "23725851" + - text: KRAS mutation is associated with lung cancer and is not associated with response to EGFR-tyrosine kinase inhibitors or chemotherapy. + pmids: + - "23208128" + - text: "One hundred and ten patients (51%) were identified who were potentially nonresponders to anti-EGFR therapy: 90/209 patients (43%) harbored the KRAS mutations." + pmids: + - "23125007" + - text: "Data show that KRAS codon 12/13 mutations have negative prognostic value in metastatic colorectal cancer patients treated with FOLFOX/XELOX, but is not predictive of treatment benefit with cediranib, using progression-free survival and overall survival." + pmids: + - "23510802" + - text: we did not find a correlation between the presence of a K-ras mutation and the presence of Epiregulin and Amphiregulin in colon cancer tissue. + pmids: + - "23885463" + - text: BRAF and codon 12 KRAS mutations predict for adverse outcome of colorectal cancer patients receiving cetuximab. + pmids: + - "23374602" + - text: "Data indicate that Ras inhibition by Salirasib (FTS) induced autophagy in several cell lines, including mouse embryonic fibroblasts and the human cancer cell lines HeLa, HCT-116 and DLD-1." + pmids: + - "23370967" + - text: High KRAS expression is associated with the proliferation and invasion of non-small cell lung cancer. + pmids: + - "23134218" + - text: KRAS mutations are found in up to 95% of pancreatic cancer cases. + pmids: + - "23174662" + - text: "Mutations in genes pertaining to the canonical RAS pathway are found in a minority of adenoid cystic carcinomas, and that activating KIT mutations are either absent or remarkably rare in these cancers." + pmids: + - "23398044" + - text: EGFR and KRAS mutational rates were comparable in primary and unpaired metastatic lung adenocarcinoma in pre-chemotherapy and postchemotherapy groups. + pmids: + - "23337026" + - text: Examination of 6 PDACs revealed that 4 of 5 gastric-type IPMNs negative for GNAS mutations contained mutations in codon 12 of KRAS. Mutations in codon 13 of KRAS were not identified in PDACs and IPMNs. + pmids: + - "23532108" + - text: KRAS mutations in codon 13 have similar behavior as KRAS WT. + pmids: + - "23437064" + - text: "Data indicate that the concordance between EGFR and KRAS mutational status in 29 paired scraped smears and needle washing was 100%, with 7 paired samples showing the same EGFR mutation and 8 paired samples showing the same KRAS mutations." + pmids: + - "23352033" + - text: KRAS mutation is suggested to be poor prognostic factors in CRLM. + pmids: + - "23010994" + - text: These data support the utility of the therascreen KRAS kit as a means of selecting patients who may benefit from cetuximab therapy. + pmids: + - "23030695" + - text: KRAS mutations is associated with colorectal cancer. + pmids: + - "23324583" + - text: The status of EGFR and KRAS mutation in serum was not prognostic in patients with advanced non-small cell lung cancer + pmids: + - "23307237" + - text: "KRAS gene mutation predict poor prognosis in colorectal cancer patients, treated with EGFR inhibitors." + pmids: + - "23155138" + - text: Report K-ras mutations in pancreatic ductal carcinoma and their relationship to patient survival. + pmids: + - "23344532" + - text: Establishment of molecular subgroups based on KRAS and BRAF mutation status is important and should be considered in future prognostic studies in colorectal carcinoma. + pmids: + - "23660947" + - text: "The present study revealed that ESCC of Brazilian patients do not present mutations in hot spots of EGFR, K-RAS and BRAF and only a minor proportion present overexpression of EGFR or HER2." + pmids: + - "23207070" + - text: Our findings suggest that RAS pathway activation due to BRAF V600E and KRAS mutations is an important event in a subset of peripheral nerve sheath tumours not related to neurofibromatosis + pmids: + - "23190154" + - text: collegiate smokers (former smokers who smoked between 101 lifetime cigarettes and 5 pack-years)with advanced-stage lung cancers represent a distinct subgroup of patients with a higher frequency of KRAS mutations and lower frequency of EGFR mutations compared with never smokers + pmids: + - "23242442" + - text: Data suggest that KRAS mutations in SW48 colorectal cancer cells are linked to resistance to sunitinib. + pmids: + - "23455880" + - text: Kirsten Ras (KRAS)-mutated CRC was associated with statistically significantly poorer survival after diagnosis than KRAS-wild-type CRC. + pmids: + - "23511557" + - text: presence of KRAS mutations in plasma in advanced non-small cell lung cancer may be a marker of poor prognosis and may also hold predictive value. + pmids: + - "23238036" + - text: "The findings provide evidence that HRAS and KRAS mutations are sufficient to cause nevus sebaceus without genome instability, LOH, or secondary mutation." + pmids: + - "23096712" + - text: The results confirm a strong correlation between activating RAS mutations and nevus sebaceus. + pmids: + - "23096709" + - text: "There was no association between the mutations and expression pattern of K-ras, APC and p53 in colorectal cancer among Indians." + pmids: + - "23526092" + - text: Intercellular transfer of mutant KRAS is a characteristic feature of invasive colonic cancer cells. + pmids: + - "23161513" + - text: the imbalance in expression of Aurora-A and BRCA2 regulates RAS-induced genomic instability and tumorigenesis + pmids: + - "23319376" + - text: "The prevalence of EML4-ALK, EGFR status and KRAS mutations in 208 Chinese patients with non-small cell lung cancer, is reported." + pmids: + - "23341890" + - text: "Wild-type copies of HRas, NRas and KRas play unique roles in the context of mutant KRas-driven tumors." + pmids: + - "23496764" + - text: An unusual phenotypic effect of the specific KRAS mutation or a coincidence of two independent disorders may be considered. KRAS mutation-associated phenotypes appear to be subject to considerable clinical heterogeneity + pmids: + - "21797849" + - text: "Our results confirm the importance of point mutations in KRAS codons 12, 13, and 61 in the molecular pathogenesis of colorectal adenocarcinomas in the Turkish population." + pmids: + - "23297805" + - text: K-RAS and B-RAF mutations do not seem to be predictive of treatment outcome as potential biomarkers for bevacizumab therapy in metastatic colorectal cancer. + pmids: + - "23613396" + - text: "sensitive, fast, and cost-effective screening method for KRAS mutations, and successfully detected low-abundance KRAS mutations in clinical samples, which will allow provision of more precise individualized cancer therapy." + pmids: + - "23355875" + - text: "The prevalence of RAS mutations in the present series of medullary thyroid cancer (MTC) was 10.1%, and 17.6% when considering only RET-negative cases. RAS mutations were found in MTC tumor tissue but not in peripheral blood indicating their somatic origin" + pmids: + - "23240926" + - text: Report KRAS mutations in ovarian serous carcinoma. + pmids: + - "23388101" + - text: "FGFR2, KRAS and PIK3CA are frequently mutated in primary and metastatic endometrial lesions." + pmids: + - "23300780" + - text: KRAS mutations are associated with colorectal cancer. + pmids: + - "23645765" + - text: let-7a over-expression represses the expression of k-Ras protein and significantly inhibits the growth of A549 lung cancer cells. + pmids: + - "21097396" + - text: Organs initially involved by distant metastasis were different according to the KRAS mutational status inmetastatic or recurrent colorectal cancer (MRCRC) patients. + pmids: + - "22876814" + - text: "KRAS and BRAF mutations are infrequent or absent, respectively in Intestinal-type sinonasal adenocarcinoma" + pmids: + - "23055340" + - text: Diverging gain-of-function mechanisms of two novel KRAS mutations associated with Noonan and cardio-facio-cutaneous syndromes. + pmids: + - "23059812" + - text: KRAS mutations are not associated with early stage colorectal cancer. + pmids: + - "23284732" + - text: Findings indicate that K-RAS regulates both caveolin-1 expression and other factors affecting caveolin-1 functions in colon cancer-derived cell migration. + pmids: + - "23280667" + - text: Our results suggest that response to Panitumumab treatment is not only controlled by the KRAS status but may also be essentially influenced by other regulating factors. + pmids: + - "21842425" + - text: "prevalence of KRAS mutations was identified in patients with ICC, BilIN-3, and BilIN-2 compared with BilIN-1. Furthermore, KRAS mutations were detected in LBD lesions and PBG lesions" + pmids: + - "23335286" + - text: KRAS mutations are not associated with tyrosine kinase inhibitors treatment efficacy in non-small cell lung cancer. + pmids: + - "23564819" + - text: An evaluation of cytomorphologic features of advanced lung adenocarcinomas that might be associated with KRAS mutational status. + pmids: + - "21681971" + - text: no evidence for association between endometriosis risk and rs61764370 or any other SNPs in KRAS + pmids: + - "23010532" + - text: KRAS mutations were frequently identified in mucinous adenocarcinoma subtypes. + pmids: + - "23242438" + - text: "mutations are good markers of different aetiologies and histopathological forms of lung cancers but have little prognostic value, with the exception of KRAS mutation, which may have a prognostic value in ADC." + pmids: + - "22267755" + - text: MicroRNA-31 activates the RAS pathway and functions as an oncogenic MicroRNA by repressing RAS p21 GTPase activating protein 1 (RASA1) + pmids: + - "23322774" + - text: KRAS G>A mutation is associated with relapse in duodenal adenocarcinoma. + pmids: + - "23065691" + - text: Low-grade bladder papillary carcinoma is associated with mutation in the FGFR3 or in some cases mutations in RAS genes. + pmids: + - "23232572" + - text: Data indicate that in KRAS mutated tumours increased miR-200b and decreased miR-143 expression were associated with a good progression-free survival (PFS) upon treatment. + pmids: + - "22804917" + - text: KRAS mutation is present in a small subset of primary urinary bladder adenocarcinomas. + pmids: + - "22804747" + - text: "cell-autonomous phosphoinositide 3-kinase and 3-phosphoinositide-dependent protein kinase 1 are key effectors of oncogenic Kras in the pancreas, mediating cell plasticity, acinar-to-ductal metaplasia, and pancreatic ductal adenocarcinoma formation" + pmids: + - "23453624" + - text: "In CRC patients treated with cetuximab, activating mutation signatures for KRAS (75 genes) were developed." + pmids: + - "22798500" + - text: "KRAS codon 12 mutations (in particular, c.35G>T), but not codon 13 mutations, are associated with inferior survival in BRAF wild-type colorectal cancer." + pmids: + - "22753589" + - text: "QoL was evaluable in 627/666 patients (94%) with KRAS wild-type tumours; of these 52% received FOLFIRI, and 48% FOLFIRI plus cetuximab. Pattern mixture analysis revealed no significant differences." + pmids: + - "23116683" + - text: KRAS mutations are associated with response to therapy in colorectal neoplasms. + pmids: + - "22537608" + - text: KRAS mutations are associated with advanced colorectal neoplasms. + pmids: + - "22609129" + - text: "KRAS mutation has no significant correlation with colorectal carcinoma patients' age, tumor site, tumor gross appearance, degree of differentiation, depth of invasion, TNM stages, lymphatic invasion, abdominal or distant metastases and prognosis." + pmids: + - "23157828" + - text: "The detection rate of KRAS mutation is higher in female colorectal carcinoma patients than males. The presence of KRAS mutation does not significantly correlate with patients' age, tumor site, differentiation grades and histological types." + pmids: + - "23157826" + - text: "Codon 12, 13 in KRAS gene and codon 600 in BRAF gene are the most common mutation points in Chinese colorectal cancer. KRAS and BRAF mutations are mutually exclusive. KRAS and BRAF gene mutation is higher in females than that in males." + pmids: + - "23157824" + - text: "In Chinese colorectal carcinoma patients, KRAS mutations are associated with gender, age, tumor differentiation and primary tumor sites" + pmids: + - "23157823" + - text: "Mutations affecting BRAF, EGFR, PIK3CA, and KRAS are not associated with sporadic vestibular schwannomas." + pmids: + - "23224067" + - text: "the reprogramming of glutamine metabolism is mediated by oncogenic KRAS, the signature genetic alteration in pancreatic ductal adenocarcinoma, through the transcriptional upregulation and repression of key metabolic enzymes in this pathway" + pmids: + - "23535601" + - text: "About one third of patients with colorectal adenocarcinoma have KRAS gene mutation, which might be related to patients' gender." + pmids: + - "23302307" + - text: "EGFR mutation rate is related with gender, smoking history and pathological type in non-small cell lung cancer patients, and is also related with differentiation and smoking history in adenocarcinoma patients." + pmids: + - "23302304" + - text: "Molecular characterization of single CTCs demonstrated considerable intra- and interpatient heterogeneity of EGFR expression and genetic alterations in EGFR, KRAS, and PIK3CA" + pmids: + - "23136247" + - text: metastatic colorectal cancer patients with the KRAS p.G13D mutation appeared to benefit more from cetuximab than patients who had tumors with KRAS codon 12 mutations + pmids: + - "22972628" + - text: Activating GNAS mutations are often associated with KRAS mutations as a characteristic genetic feature of pyloric gland adenomas (PGAs) of the stomach and duodenum. + pmids: + - "23208952" + - text: "A higher frequency of KRAS mutation G12C in women, their younger age, and lesser smoking history together support a heightened susceptibility to tobacco carcinogens." + pmids: + - "23014527" + - text: "Aim of this study was to characterize further the expression of RUNX3 in lung cancers.Inactivation of RUNX3 was observed in 70% of the adenocarcinoma samples, and this was associated with promoter hypermethylation but not biased to EGFR/KRAS mutations." + pmids: + - "22729835" + - text: "Investigated correlation between KRAS mutations and characteristics of non-advanced and advanced colorectal adenomas. KRAS mutations were detected in 31 % of the non-advanced adenomas, in 57.5 % of advanced adenomas and in 62.5 % of early carcinomas." + pmids: + - "22729813" + - text: Studies indicate that only mutant KRAS codon G12A was associated with a negative predictive effect on overall survival (OS). + pmids: + - "23182985" + - text: Analysis of hypermethylation status of a panel of genes and KRAS mutation detection offer a similar diagnostic yield in the evaluation of pancreatic masses. + pmids: + - "23135349" + - text: expression of these oncogenes markedly stimulated ERK1/2 activities and morphologically transformed IECs. + pmids: + - "22430215" + - text: Phospho-ERK may be a useful marker in combination with K-Ras for improving the prognosis of colorectal cancer. + pmids: + - "22864777" + - text: KRAS mutations were not detected in lung cancer patients harboring mutations in either EGFR or P53. + pmids: + - "23026641" + - text: Kras mutation and p53 overexpression rates in pseudomyxoma peritonei are comparable to those of colorectal adenomas and mucinous colorectal cancer. + pmids: + - "23199549" + - text: "Approximately 90% of medullary thyroid cancers had mutually exclusive mutations in RET, HRAS, and KRAS, suggesting that RET and RAS are the predominant driver pathways in medullary thyroid cancer." + pmids: + - "23264394" + - text: "The G12C KRAS mutation is a strong negative predictor for EGFR-TKI treatment, whereas other KRAS mutation types have not negatively predicted treatment efficacy compared with that for the wild-type KRAS genotype." + pmids: + - "23313110" + - text: there are conserved components of mutant K-Ras signaling and phenotypes but that many depend on cell context and environmental cues + pmids: + - "23188824" + - text: Sensitization of human pancreatic cancer cells harboring mutated K-ras to apoptosis. + pmids: + - "22848379" + - text: "Studied differential miRNA expression in metastatic colorectal cancer by microarrays from primary tumors of 33 patients who had wild-type KRAS/BRAF and third- to sixth-line anti-EGFRmAb treatment, with/without irinotecan." + pmids: + - "23098991" + - text: "findings show intratumoral heterogeneity of KRAS mutational status is rare in non-small cell lung cancer (NSCLC); finding is in line with hypothesis that oncogenic activation of KRAS is an early event and a bona fide \"driver mutation\" in NSCLC" + pmids: + - "23022742" + - text: "MSI status, KRAS and BRAF mutation rates varied remarkably among the colonic carcinoma subsites irrespective of right- and left-sided origin." + pmids: + - "22898351" + - text: A meta-analysis was performed to compare KRAS gene mutations in colorectal cancer tissue samples with primary and metastatic colorectal cancers + pmids: + - "23075074" + - text: KRAS mutation is associated with early-stage low-grade endometrial cancers. + pmids: + - "23013731" + - text: KRAS p.G13D mutations are associated with sensitivity to anti-EGFR antibody treatment in colorectal cancer cell lines. + pmids: + - "23015072" + - text: "in Japanese colorectal cancer patients the KRASp.G13D mutation had prognostic impact in relation to disease-free survival in stage I-III disease, while the prognosis of stage IV patients without anti-EGFR antibody therapy was unaffected by KRAS status." + pmids: + - "22922794" + - text: "The low rate of K-ras and EGFR mutations, coupled with the high surface expression of EGFR, suggests similarity in the EGFR signalling pathway between Squamous cell anal carcinoma and squamous cell carcinoma of the head and neck." + pmids: + - "23093229" + - text: this study is the first to examine the prevalence of EGFR and KRAS mutations in a South American Brazilian population. + pmids: + - "22666783" + - text: Expression of RBM5 mRNA and protein was negatively correlated with expression of EGFR and KRAS mRNA and protein in NSCLC tissues. + pmids: + - "22537942" + - text: "ras-Induced up-regulation of CTP:phosphocholine cytidylyltransferase alpha contributes to malignant transformation of intestinal epithelial cells" + pmids: + - "23155050" + - text: Laboratories and clinicians need to be aware of the decrease in correct mutation call rate proportionally with decreasing percentage of tumor cells and that external quality assurance schemes need to address low tumor cell percentage in the test samples. + pmids: + - "23242173" + - text: "Metastatic colorectal cancer patients with KRAS codon 13 mutations demonstrate a greater clinical response to anti-EGFR treatment than patients with other KRAS mutations [review]" + pmids: + - "23090619" + - text: the frequency and spectrum of K-ras mutations among colorectal cancers Iraqi patients + pmids: + - "22842183" + - text: KRAS mutations predicted shorter survival for patients with advanced lung adenocarcinoma. + pmids: + - "22810899" + - text: "In patients with KRAS wild-type locally advanced rectal cancer, the addition of cetuximab to the chemoradiation with irinotecan plus capecitabine regimen was not associated with improved clinical outcome compared with chemoradiation without cetuximab" + pmids: + - "22672749" + - text: Evolutionarily conserved protein ERH controls CENP-E mRNA splicing and is required for the survival of KRAS mutant cancer cells. + pmids: + - "23236152" + - text: "a previously unknown link between activated K-Ras and menin, an important interplay governing tumor activation and suppression in the development of lung cancer." + pmids: + - "23027861" + - text: "EGFR and downstream genetic alterations in KRAS/BRAF and PI3K/AKT pathways have roles in colorectal cancer and treatment [review]" + pmids: + - "23021375" + - text: heterogeneity in frequencies of KRAS/PIK3CA somatic mutations is consistent with already-reported discrepancies in distribution of germline mutations for other malignancies within Sardinian population. + pmids: + - "22931052" + - text: Ddata suggest that KRAS alterations are linked to clinical phenotypes in endometrial carcinomas with increase in copy-number and mRNA expression levels from primary to metastatic lesions. + pmids: + - "23099803" + - text: The aim of the present study was to determine the frequency of EGFR and KRAS mutations in non-small cell lung cancer in the West European Dutch population. + pmids: + - "22528563" + - text: KRAS mutation is associated with response to therapy in non-small-cell lung cancer. + pmids: + - "22982650" + - text: "A novel interplay between K-ras and H-ras, with possible implications for colorectal carcinogenesis." + pmids: + - "22800643" + - text: The most significant discovery of the integrated validation is the down-regulation of FABP5 and PDCD4 in KRAS-activated human tumor bronchial epithelial cells. + pmids: + - "22761399" + - text: "In patients with surgically resected lung adenocarcinomas, the KRAS and EGFR gene mutation status of tumors was not associated with disease-free survival." + pmids: + - "21607772" + - text: KRAS mutation is not associated with response to therapy in metachronous and synchronous metastatic colorectal adenocarcinoma + pmids: + - "22674181" + - text: "A high frequency of KRAS gene mutations exists in Chinese patients with colorectal cancer, and are associated with poor survival, tumor differentiation and liver metastasis." + pmids: + - "22971512" + - text: K-ras mutation is strongly associated with perineural invasion phenotypically. K-ras mutation is an independent prognostic factor of intrahepatic cholangiocarcinoma after hepatectomy. + pmids: + - "22805857" + - text: K-RAS mutations and amino acid substitutions are associated with metastatic colorectal cancer. + pmids: + - "22791568" + - text: Assessment of the prognostic value of KRAS codon 12 and codon 13 mutations in tumor tissue from patients with advanced colorectal cancer using CAPOX or FUFOX treatment regimens. + pmids: + - "22876876" + - text: KRAS mutations were found only in the presence of neoplasia in patients with longstanding ulcerative colitis in India. + pmids: + - "22398042" + - text: Baseline sPLA(2)IIa expression predicts response to sPLA(2)IIa inhibition in some K-ras mutant lung cancer cells. + pmids: + - "23026567" + - text: "Authors found that EGFR WT/KRAS mutant advanced non-small cell lung cancer patients are associated with an increased resistance to treatment, specific mutant KRAS may account for differential sensitivity to an EGFR tyrosine kinase inhibitor." + pmids: + - "22770374" + - text: "The combined effects of EGFR downregulation, ligand competition, and immune effector function conspire to inhibit tumor growth in xenograft models of cetuximab-resistant BRAF and KRAS mutant cancers." + pmids: + - "22706026" + - text: Data indicate that RNA interference of KRAS variant caused a significant decrease in cell survival in the KRAS variant carrying epithelial ovarian cancer cell line. + pmids: + - "22139083" + - text: Data show that Med23 RNAi specifically inhibits the proliferation and tumorigenicity of lung cancer cells with hyperactive Ras activity. + pmids: + - "22988093" + - text: "By identifying the KRAS mutational status at the metastasized colorectal carcinoma, a statement about the benefit of an anti-EGFR-therapy can be given, which is nowadays the basis of diagnostic and therapy of this cancer." + pmids: + - "23111797" + - text: "In 76 patients with colorectal neoplasms, 5 missense mutations were detected in KRAS. 7 patients had multiple mutations, MSH2 and KRAS, APC and KRAS." + pmids: + - "22669205" + - text: KRAS mutations play a limited role in the development of sinonasal cancer. + pmids: + - "22459936" + - text: "DNA methylation of each marker was quantified using combined bisulfite restriction analysis (COBRA) and analyzed along with various genetic factors associated with CRC [the BRAF and KRAS mutations, MLH1 methylation and microsatellite instability" + pmids: + - "22006538" + - text: "These findings further validate the importance of the KRAS-variant in breast and ovarian cancer risk, and support the association of this variant as a genetic marker for HBOC families previously considered uninformative." + pmids: + - "22662244" + - text: Data suggests that KRAS codon 12 mutation may not represent a homogeneous entity in metastatic colorectal cancer when treated with cetuximab-based first-line therapy. + pmids: + - "22948721" + - text: Codon 13 KRAS mutation is a negative predicitive tumor marker in colorectal carcinoma treated with combined antineoplastic agents. + pmids: + - "22927534" + - text: This study provided further evidence for the prognostic importance of KRAS status in terms of recurrence-free and overall survival in patients with colorectal cancer liver metastases. + pmids: + - "23027075" + - text: Cancer cells expressing oncogenic KRAS were found to be highly dependent on the transcription factor GATA2 and the DNA replication initiation regulator CDC6. + pmids: + - "22613949" + - text: RAS mutations are frequent events in sporadic medullary thyroid carcinoma. + pmids: + - "22865907" + - text: Cetuximab addition to first line chemotherapy seems to benefit patients with KRAS mutant metastatic colorecttal neoplasms. + pmids: + - "22734028" + - text: "In this work we describe a simple and efficient method for synthesis of milligram quantities of functionally active, fully processed K-Ras4B, and we observe K-Ras4B dimerization in vitro." + pmids: + - "22569482" + - text: Oncogenic K-Ras regulates bioactive sphingolipids in a sphingosine kinase 1-dependent manner + pmids: + - "22833671" + - text: KRAS mutations were present rarely in stidied cohort of samples with breast cancer + pmids: + - "22386733" + - text: Twelve of 94 cases (13%) analyzed for KRAS mutations were found to have a mutation in this study of patients with endometrial cancer. + pmids: + - "22498935" + - text: "CD151 links alpha(3)beta(1)/alpha(6)beta(1) integrins to Ras, Rac1, and Cdc42 by promoting the formation of multimolecular complexes in the membrane, which leads to the up-regulation of adhesion-dependent small GTPase activation" + pmids: + - "22843693" + - text: "we have analyzed the prevalence of somatic mutations in the FGFR3, PIK3CA, AKT1, KRAS, HRAS, and BRAF genes in bladder cancers" + pmids: + - "22417847" + - text: KRAS G12A is important for IL-2-independent growth of PLT-2 cells and suggests the possibility of involvement of KRAS mutation with disease progression. + pmids: + - "23092099" + - text: Report of oncogenic BRAF/KRAS mutations in sporadic glomus tumors. + pmids: + - "22317887" + - text: The rareness of the TP53 mutation shown in this study supports that SCC seems to develop from multipotential stem cells in dysplasia or adenocarcinoma. The mutual wild type status of KRAS among the lesions further supported their identical clonality. + pmids: + - "22261536" + - text: "KRAS, BRAF, and PIK3CA mutations in colorectal cancer have sustained prevalence rate in the Taiwanese population." + pmids: + - "22579930" + - text: "Data indicate that KRAS, BRAF, PIK3CA, and AKT1 mutations can be rapidly and accurately detected for cancer diagnosis." + pmids: + - "22938585" + - text: "The numbers of primary lesions with wild-type and mutant KRAS codons 12 and 13 were 8 and 13, respectively." + pmids: + - "22617127" + - text: "Of 26 non-small cell lung cancer cell lines, 14 were KRAS mutant and 12 were wild type; short-term GATA2 knockdown led to specific decreased cell viability and increased apoptosis in KRAS mutant NSCLC cells, comparable to the effect seen with loss of KRAS itself." + pmids: + - "22541434" + - text: the spectrum and frequency distribution of the identified KRAS and BRAF mutations in Serbian patient with colorectal cancer are in good accordance with literature data. + pmids: + - "23033302" + - text: "Six KRAS mutations were detected by cobas that were not detected by Sanger, and five were confirmed by MPP." + pmids: + - "22713664" + - text: "KRAS is a target of miR-30c, and that this miRNA suppresses breast cancer cell growth potentially through inhibition of KRAS signaling." + pmids: + - "22701724" + - text: Mosaicism for HRAS c.37G>C and KRAS c.35G>A mutations was found in two individuals with Schimmelpenning syndrome. + pmids: + - "22683711" + - text: "Tumors with KRAS mutations and NF-kappaB activation may be a unique subtype of colorectal cancer, and be more tolerant of chemotherapy and have a poorer prognosis." + pmids: + - "22526587" + - text: "CpG island methylation phenotype based on seven loci, BRAF V600E mutation and KRAS mutation in signet ring cell carcinoma were compared with mucinous and conventional adenocarcinomas" + pmids: + - "22522845" + - text: Gene mutations of K-ras are not associated with the postoperative prognosis of patients with hepatocellular carcinoma. + pmids: + - "22190283" + - text: KRAS mutant allele-specific imbalance is associated with colorectal adenocarcinoma. + pmids: + - "22290300" + - text: KRAS mutation is associated with colorectal serrated adenocarcinoma. + pmids: + - "22287190" + - text: "Digital PCR provides a robust, quantitative measure of the proportion of KRAS mutant alleles in routinely obtained samples" + pmids: + - "22745110" + - text: Data indicate that 14% with pancreatic ductal adenocarcinomas (PDACs) and 7% ampullary adenocarcinomas (A-ACs) had mutations in both KRAS and BRAF. + pmids: + - "22699145" + - text: These findings support the hypothesis that endometriosis-associated and independent endometrioid adenocarcinoma may develop via different molecular pathways and that KRAS mutations have an important role only in the former tumors. + pmids: + - "22305241" + - text: "Metopic suture involvement has not been described before, expanding the main different cranial sutures which can be affected in Noonan syndrome and KRAS gene mutations" + pmids: + - "22488932" + - text: A considerable proportion of NSCLC in Chinese patients showed discrepancy in KRAS and EGFR mutation status between primary tumors and corresponding metastases. + pmids: + - "22177492" + - text: KRAS mutations to be more frequent than NRAS mutations in pediatric patients with acute myeloid leukemia. + pmids: + - "22407852" + - text: "Lung cancers with acquired resistance to EGFR inhibitors occasionally harbor BRAF gene mutations but lack mutations in KRAS, NRAS, or MEK1." + pmids: + - "22773810" + - text: AKT1-GLI3-VMP1 pathway mediates KRAS oncogene-induced autophagy in cancer cells. + pmids: + - "22535956" + - text: "This is the first description of an oncogenic gene fusion of KRAS, one of the most studied proto-oncogenes." + pmids: + - "22140652" + - text: Single nucleotide polymorphism in KRAS is associated with synchronous endometrial and ovarian cancer. + pmids: + - "22635024" + - text: "In the KRAS gene, 10 substitutions at codon 12 were observed in lung adenocarcinomas from a Chiba Prefecture, Japan cohort." + pmids: + - "22460425" + - text: "The presence of activating GNAS mutations, in association with KRAS or BRAF mutations, is a characteristic genetic feature of colorectal villous adenoma." + pmids: + - "22374786" + - text: role of KRAS mutations in esophageal squamous-cell carcinoma carcinogenesis (Review) + pmids: + - "22020370" + - text: Mutations in the KRAS gene are a negative predictive factor for response to cetuximab with very high specificity and low sensitivity + pmids: + - "22517696" + - text: Review and meta-analysis found that K-ras gene mutations seem not to correlate with the prognosis of patients with colorectal cancer. + pmids: + - "22810479" + - text: "In the present study, we did not find any significant correlations between KRAS, BRAF and PIK3CA mutations and the loss of PTEN expression and various clinicopathological features in Chinese patients with colorectal cancer." + pmids: + - "22586484" + - text: "Chemotherapy effect seems to increase with tumor size. However, this small study could not identify subgroups of patients who did or did not derive significant benefit from adjuvant chemotherapy based on T-size or KRAS status." + pmids: + - "22588152" + - text: All mucinous growths in congenital pulmonary airway malformations were characterized by KRAS missense mutations. + pmids: + - "22348416" + - text: "BRAF genotype, but not KRAS, was found to be an independent prognostic biomarker." + pmids: + - "22331825" + - text: "Investigation the prevalence of mutations in the KRAS gene and its correlation with demographic characteristics, tumor location and stage in 100 colorectal carcinoma patients from India." + pmids: + - "22427190" + - text: "This study emphasizes the functionality of cancer molecular genetic platforms dedicated to KRAS genotyping, which allow the use of molecular predictive biomarkers by different medical institutions." + pmids: + - "22735045" + - text: "KRAS and PIK3CA mutations frequently coexist in patients with colorectal cancer, and are associated with clinical characteristics and outcome." + pmids: + - "22675430" + - text: An acetylation-mimetic mutation in K-RAS4B suppressed guanine nucleotide exchange factor-induced nucleotide exchange and inhibited in vitro transforming activity. + pmids: + - "22711838" + - text: Mutations in kras proteins are present in benign lichenoid keratosis. + pmids: + - "22188534" + - text: MSP58 activates the DNA damage response and p53/p21 signaling pathways. + pmids: + - "22563078" + - text: K-ras mutations were detected in 17 (19.3%) colon cancer samples. + pmids: + - "22583358" + - text: KRAS mutation is associated with colorectal cancer. + pmids: + - "22337533" + - text: "analysis of FGFR2 point mutations in 466 endometrioid endometrial tumors and their relationship with MSI, KRAS, PIK3CA, CTNNB1 mutations" + pmids: + - "22383975" + - text: This study provides a step forward towards understanding the molecular and pathological significance of the KRAS-variant. + pmids: + - "22189714" + - text: KRAS may have a role in response of metastatic colorectal cancer to cetuximab + pmids: + - "22446022" + - text: study examined the mutational spectra of Ras isoforms curated from large-scale tumor profiling and found that each isoform exhibits surprisingly distinctive codon mutation and amino-acid substitution biases + pmids: + - "22589270" + - text: "Data indicate that 266 (76.2%) tumors harbored EGFR mutations, 16 (4.6%) HER2 mutations, 15 (4.3%) EML4-ALK fusions, 7 (2.0%) KRAS mutations, and 2 (0.6%) BRAF mutations." + pmids: + - "22317764" + - text: These data demonstrate a role for rs712 polymorphism of the KRAS in susceptibility of oral squamous cell carcinoma. + pmids: + - "21688344" + - text: Mutation of KRAS is associated with colorectal cancer. + pmids: + - "22489692" + - text: Oncogenic KRAS regulates 3D-specific miRNAs that are possibly associated with colorectal development in vivo. + pmids: + - "22641662" + - text: Report validity EGFR and KRAS mutation analysis in cytologic samples of lung adenocarcinoma enabled by laser capture microdissection. + pmids: + - "22157931" + - text: KRAS mutations are less common than previous reports and do not correlate with survival in pancreatobiliary neoplasms. + pmids: + - "22422135" + - text: Relationship of activating mutation in K-ras gene with essential clinical characteristics of colorectal tumor disease in different age groups. + pmids: + - "22708448" + - text: Colon adenocarcinomas with KRAS mutations have higher survival rates and morphologic characteristics distinct from those with BRAF mutations. + pmids: + - "22314188" + - text: African Americans with microsatellite stable tumors had a higher proportion of KRAS mutations than Caucasians that were isolated to proximal colon cancers and primarily driven by mutations in codon 13. + pmids: + - "22114137" + - text: K-Ras knockdown abolished the insulin-like growth factor-1 (IGF-1)-induced ERK pathway in the K-Ras mt pancreatic ductal adenocarcinomas cells + pmids: + - "22342683" + - text: data indicate that miRNA-143 expression levels serve as an independent prognostic biomarker for CRC in KRAS wild-type patients + pmids: + - "22549179" + - text: The presence of both KRAS mutations and the active form of NF-kappaB in CRC tumors indicates poor patient prognosis. + pmids: + - "22327383" + - text: KRAS mutations were higher in males compared to females and higher in adenocarcinomas compared to other forms of lung cancers + pmids: + - "22430133" + - text: "Data indicate that TaqMan(R) Mutation Detection assay is an important technology to consider in the field of mutation detection for KRAS, BRAF and EGFR point mutation screening." + pmids: + - "22426079" + - text: findings implicate that N116S change in KRAS is a hyperactive mutation which is a causative agent of Noonan syndrome through maldevelopment of the heart + pmids: + - "22302539" + - text: An inherited polymorphism of a let-7 miRNA binding site in KRAS leads to abnormal endometrial growth and endometriosis. + pmids: + - "22307873" + - text: Oncogenic KRAS can downregulate Bmp4 through a transcriptional pathway that depends on ERK. These findings point to a unique link between two pathways that are frequently altered in colon cancer. + pmids: + - "22383492" + - text: Our data do not support the hypothesis that the KRAS variant rs61764370 is implicated in the aetiology of sporadic or of familial breast cancer. + pmids: + - "22436609" + - text: "KRAS mutations occurred in conventional adenomas, which were more commonly located in the proximal colon and associated with higher risk for colorectal cancer." + pmids: + - "22510757" + - text: Mutations detected in KRAS in microdissected samples from different areas of the same tumor (colon cancer) differed according to immunophenotype. + pmids: + - "22198706" + - text: Savings of drug costs minus the costs for the determination of KRAS status accounted for EUR 779.42 (SD +/-336.28) per patient per cycle. + pmids: + - "22248908" + - text: "K-RAS mutation may regulate the ERK pathway, which in turn increases the expression of GGT2" + pmids: + - "22269385" + - text: These data suggest the activation of mitogen-activated protein kinase pathway as a possible novel mechanism of primary resistance to imatinib in GISTs + pmids: + - "22282465" + - text: cigarette smoking may be a stronger risk factor for KRAS mutation-negative tumors located in the proximal colon + pmids: + - "22349355" + - text: "Data indicate that PIK3CA mutations occur in lung adenocarcinomas, usually concurrently with EGFR, KRAS, and anaplastic lymphoma kinase (ALK)." + pmids: + - "22135231" + - text: "Letter: K-ras mutations in plasma correspond to computed tomographic findings in patients with pancreatic cancer and may serve as prognostic biomarker." + pmids: + - "22044911" + - text: Combination chemotherapy with biweekly cetuximab and irinotecan was effective for pretreated metastatic colorectal cancer with wild-type KRAS. + pmids: + - "21174225" + - text: Data suggest that expression status of AR and EPI mRNAs might be evaluated as dynamic predictors of response in KRAS WT patients receiving any cetuximab-based therapy. + pmids: + - "21161326" + - text: Our findings suggest that EGFR/KRAS mutations do not occur in pure pulmonary squamous cell carcinoma (SQCC). + pmids: + - "22228640" + - text: Plasma cell-free DNA and plasma mutant KRAS levels (pmKRAS) were strongly correlated. + pmids: + - "22228631" + - text: The KRAS status varied among different areas of the same metastatic focus in metastatic colorectal adenocarcinomas. + pmids: + - "22259183" + - text: Results indicate that early-stage colorectal cancer (CRC) with the KRAS-lethal-7 (let-7) miRNA complementary site (LCS6) variant have a better outcome. + pmids: + - "21994416" + - text: "This article reviewes the spectrum of KRAS/BRAF genotype and the impact of KRAS/BRAF mutations on the clinicopathological features and prognosis of patients with colorectal cancer. [review]" + pmids: + - "22043994" + - text: "there is a high frequency of G to A transition of codon 12 mutation of the K-ras gene, with significant correlation with tumour size and tumour location" + pmids: + - "22252179" + - text: "Report mutations in KRAS, EGFR, and BRAF in cholangiocarcinoma and identify therapeutic targets for tyrosine kinase inhibitors." + pmids: + - "22178589" + - text: the results provide strong evidence that CTNNB1 is the driver in these contexts and that KRAS(G12D) and Pten loss promote the program set in motion by the CTNNB1. + pmids: + - "21860425" + - text: Four of the 27 patients were positive for K-ras mutation + pmids: + - "22421763" + - text: mutation of KRAS gene may serve as useful clinical tool for analyzing point mutations in various clinical samples + pmids: + - "22394035" + - text: Data show that IL-8 overexpression is induced by activating mutations of KRAS or EGFR in non-small cell lung cancer (NSCLC) cells. + pmids: + - "21544811" + - text: "The K-RAS protein is associated with mitochondria, and induces a rapid suppression of respiratory chain complex-I and a decrease in mitochondrial transmembrane potential by affecting the cyclosporin-sensitive permeability transition pore." + pmids: + - "21876558" + - text: KRAS mutant cancer cells showed variable response to AZD6244. + pmids: + - "22082529" + - text: "KRAS mutation is inversely associated with interval cancers and with MSI, suggesting that it is a marker of the chromosomal instability pathway associated with slow tumor growth." + pmids: + - "22138963" + - text: Combined mutations in codons 12 and 13 of KRAS are relatively infrequent and most commonly occur in prostate carcinomas. + pmids: + - "21607617" + - text: "GLUT1 overexpression status was significantly correlated with gene mutation status, including EGFR and Kras" + pmids: + - "22200795" + - text: the incidence of EGFR and KRAS mutations in Chinese patients with adenosquamous carcinoma of the lung were similar to those of Asian patients with adenocarcinoma + pmids: + - "21592614" + - text: KRAS mutation is an early hit in lung adenocarcinoma development. + pmids: + - "21839537" + - text: the activity of myeloblastin was significantly altered in the lung adenocarcinoma biopsies harboring a KRAS gene mutation. + pmids: + - "22210048" + - text: Data suggest that recurring DNA copy alterations are important for tumor progression in the Kras(LA2) model of lung cancer and that the requirement for these alterations may be dependent on the genetic background of the mouse strain. + pmids: + - "21807965" + - text: The mutation status of the KRAS gene is likely involved in mTOR pathway and to be a prognosis marker for colorectal cancer in kidney transplantation. + pmids: + - "22245873" + - text: Genetic analysis revealed individual heterozygous mutations in the KRAS (phenotype of CFC/Noonan syndrome) and BRAF genes (phenotype of CFC syndrome) + pmids: + - "21871821" + - text: "Phospho-ERK and AKT status, but not KRAS mutation status, are associated with outcomes in rectal cancer treated with chemoradiotherapy" + pmids: + - "21910869" + - text: Patients with pancreatic cancer with KRAS mutations showed a worse response to chemotherapy than those with wild-type KRAS. + pmids: + - "21862683" + - text: "Mutated Kras(G12D)-activated AP-1 induces IL-1alpha, which, in turn, activates NF-kappaB and its target genes IL-1alpha and p62, to initiate IL-1alpha/p62 feedforward loops for inducing and sustaining NF-kappaB activity." + pmids: + - "22264792" + - text: "In sporadic colorectal tumourspatients, the most frequently mutated gene was APC (68.9% of tumours), followed by KRAS (31.1%), TP53 (27.2%), BRAF (8.7%) and CTNNB1 (1.9%)." + pmids: + - "21901162" + - text: data suggest that TAK1 functions as a prosurvival mediator in cancer cells displaying hyperactive KRAS-dependent Wnt signaling. + pmids: + - "22341439" + - text: "In total, 29% of the false-negative or doubtful cytology results were accompanied by RASSF1A methylation or KRAS mutation results that were highly suggestive of malignancy." + pmids: + - "21700687" + - text: "BRAF and KRAS mutations were observed in six (46.2%) and four (30.3%) filiform serrated adenomaS, respectively." + pmids: + - "22157687" + - text: KRAS mutation is associated with nonsmall cell lung cancer. + pmids: + - "21720997" + - text: Adenoma with intermediate-methylation epigenotype correlated to KRAS-mutation((+)). + pmids: + - "22115708" + - text: loss of heterozygosity at Kras can provide cancer cells functional growth advantages and promote metastasis. + pmids: + - "22113502" + - text: mitochondrial functional loss may be mediated by oncogenic K-Ras-induced mitophagy during early tumorigenesis even in the absence of hypoxia + pmids: + - "21738012" + - text: The detection of KRAS mutant allele-specific imbalance in lung adenocarcinomas may identify patients with more aggressive disease. + pmids: + - "21743433" + - text: "study presents a novel functional interaction of p16 and K-Ras. Re-expression of the tumor suppressor in pancreatic cancer cells restricted Ras oncoprotein activity, which resulted in loss or reduction of their transforming potential" + pmids: + - "22049925" + - text: "These results strongly suggested that the oncogenic RAS upregulates EZH2 through MEK-ERK signaling, resulted in downregulation of tumor suppressors including RUNX3 in pancreatic carcinogenesis." + pmids: + - "22222375" + - text: Not all mutant KRas proteins affect patient survival or downstream signaling in a similar way. The heterogeneous behavior of mutant KRas proteins implies that ther interventions may need to take into account the specific mutant KRas expressed by the tumor + pmids: + - "22247021" + - text: KRAS mutation is associated with metastatic colorectal cancer. + pmids: + - "22000810" + - text: samples of metastatic colorectal cancer were tested for the presence of the seven most common mutations in the KRAS gene and the V600E mutation in the BRAF gene + pmids: + - "20645028" + - text: Comparison of KRAS mutation tests in colorectal cancer patients. + pmids: + - "21699410" + - text: Data show that high-resolution melting analysis is a sensitive and accurate screening methodology for K-ras codons 12 and 13 mutations in clinical samples. + pmids: + - "21989023" + - text: "KRAS mutation status predicts a patient's likely response to the monoclonal antibody cetuximab." + pmids: + - "21851273" + - text: a possible etiological role of the Ki-ras mutation in the development of the low-grade mucinous tumors of the appendix + pmids: + - "21443421" + - text: The KRAS mutation occurred more frequently in lung tumor patients whose ;ung tumor diameter was >/= 31 mm than in those whose tumor diameter was <30 mm. + pmids: + - "21811765" + - text: The small number of tumors with co-expression of mutant K-Ras and MST2 has elevated apoptosis rates + pmids: + - "22195963" + - text: "The significance of tests for KRAS mutation in colorectal cancer is described together with varius test methods for the said mutation.[review]" + pmids: + - "22213982" + - text: "RET mutations may have a role in medullary thyroid carcinoma, while BRAF, AKT1, and CTNNB1 do not; the role of HRAS, KRAS, and NRAS mutations are not determined" + pmids: + - "22199277" + - text: "Our method for the detection of KRAS gene mutations may be useful to supplement histo/cytopathologic evaluations for pancreatic cancer, and is superior to serum CA19-9 in EUS-FNAB histo/cytopathology-indeterminate patients" + pmids: + - "21876563" + - text: Cell growth retardation was inhibited upon knockdown of K-Ras and an increase in the level of miR-622 in 16HBE-T cells + pmids: + - "22016468" + - text: Validated liquid-based cytology for EGFR and KRAS gene mutations and set appropriate laser capture microdissection and direct sequencing benchmarks. + pmids: + - "21945923" + - text: "colorectal cancer patients with low levels of tumor-infiltrating lymphocytes , a high CD1a(+)/DC-LAMP(+) tumor-infiltrating DC ratio, and a KRAS mutation in codon 13 are at a high risk of disease recurrences" + pmids: + - "21884745" + - text: "compared with KRAS codon 12 mutations, codon 13-mutated metastatic colorectal cancer presents as a more aggressive disease frequently associated with local and distant metastases at first diagnosis" + pmids: + - "21795973" + - text: KRAS mutations in primary NSCLC foci may be a more accurate biomarker than in metastases to reflect KRAS mutation status. + pmids: + - "22011285" + - text: role of germline KRAS mutations in developmental disorders + pmids: + - "20949621" + - text: KRAS mutation G12V enhances the ability of colon adenocarcinoma cells to migrate and invade through filopodia formation and PI3K-dependent Cdc42 activation + pmids: + - "21943101" + - text: KRAS mutations are associated with non-small cell lung cancer. + pmids: + - "21949883" + - text: "KRAS gene may be instable during the metastatic process observed in non-small cell lung cancer, whereas the mutant KRAS genotype in the primary tumor could be more likely to change back to the wild-type after metastasis." + pmids: + - "21982684" + - text: "Heterogeneous distribution of K-ras codon 12 and 13 mutations within primary tumor, or between primary tumor and lymph node metastases, was demonstrated for 15 (20%) of 74 colon cancer patients having K-ras mutations." + pmids: + - "21573767" + - text: Combining routine cytology with FISH and K-ras mutational analyses improves diagnostic yield of endoscopic ultrasound-guided fine needle aspiration of solid pancreatic masses. + pmids: + - "21705950" + - text: gene amplification is associated with non-small cell lung carcinoma progression in both Swiss and Amertican cohorts + pmids: + - "21477882" + - text: Paxillin enables attachment-independent tyrosine phosphorylation of focal adhesion kinase and transformation by RAS + pmids: + - "21900245" + - text: These findings add information about the impact of specific amino acid changes in the Kras gene. + pmids: + - "21603900" + - text: APC and KRAS mutations in distal colorectal polyps are related to smoking habits in men. + pmids: + - "21865138" + - text: KRAS knockdown using shRNA suppressed ERK signaling in all of the KRAS mutant colorectal cancer cell lines examined. + pmids: + - "21985784" + - text: The presence of KRAS mutations and loss of PTEN expression were not associated with impaired response to cetuximab-based chemoradiotherapy and 3-year disease free survival. + pmids: + - "20947270" + - text: K-ras gene mutations were detected in four NSCLC cases (3.5%). + pmids: + - "21527506" + - text: data exclude the possibility of an association between KRAS rs61764370 and a clinically significant risk of ovarian cancer or of familial ovarian cancer + pmids: + - "21385923" + - text: The application of highly sensitive methods for the detection of KRAS mutations significantly improves the identification of mCRC patients resistant to anti-EGFR MoAbs. + pmids: + - "21632860" + - text: IFN-beta contributes to Ras transformation + pmids: + - "21897875" + - text: "Using human CRC samples, authors were able to show that there is crosstalk between the KRAS-mediated pathway and other signalling pathways." + pmids: + - "21531130" + - text: KRAS mutations are associated with treatment response in non-small cell lung cancer. + pmids: + - "21847063" + - text: strong positive correlation between the fraction of mutated KRAS alleles and the fraction of cancer cells in the samples indicate homogeneity of KRAS mutation status in colorectal carcinoma + pmids: + - "22016105" + - text: Mutant KRAS is associated with low drug response in metastatic colorectal cancer. + pmids: + - "21855038" + - text: "Preoperative chemoradiation with cetuximab, irinotecan, and capecitabine was active and well tolerated. KRAS mutation status was not a predictive factor for pathologic response in this study." + pmids: + - "20888703" + - text: KRAS mutation is associated with metastatic pancreatic ductal adenocarcinoma. + pmids: + - "21894049" + - text: KRAS-variant frequencies might be increased among BRCA1 carriers + pmids: + - "20676756" + - text: "the KRAS-variant was enriched in non-acral melanoma (25%), and miR-137 under expression was significantly associated with melanomas with the KRAS-variant." + pmids: + - "21543894" + - text: mutations confer antineoplastic drug resistance + pmids: + - "21277645" + - text: KRAS mutation is associated with metastatic colorectal cancer + pmids: + - "21962894" + - text: KRAS mutation status is a treatment effect modifier for anti-EGFR antibodies in metastatic colorectal cancer + pmids: + - "21550229" + - text: Mutant KRAS promotes hyperplasia and alters differentiation in the colon epithelium but does not expand the presumptive stem cell pool. + pmids: + - "21699772" + - text: "KRAS mutation detection may be reliably performed with high accuracy, allowing treatment decisions for lung cancer." + pmids: + - "21947301" + - text: "conclude that, in the colon and pancreas, Cten is a downstream target of Kras and may be a mechanism through which Kras regulates of cell motility" + pmids: + - "21698197" + - text: KRAS mutation in metastatic tumors is more commonly associated with advanced stages of cancer and correlates with a heavy smoking history. + pmids: + - "21497370" + - text: "Non-BAC adenocarcinoma is related to smoking history and has a poor prognosis. BAC/adenocarcinoma with bronchioloalveolar features adenocarcinoma, however, has a more favorable prognosis." + pmids: + - "21387273" + - text: "Under serum-starved conditions, the expression level of RRM2 protein increased in HCT116 cells compared to HKe3 cells (HCT116 cells with a disruption in oncogenic KRAS), and the re-expression of KRAS in HKe3 cells induced the expression of RRM2." + pmids: + - "21873171" + - text: "HKe3 cells stably overexpressing oncogenic KRAS showed increased expression of miR-200c, miR-221 and miR-222 and reduced expression of its target PTEN exclusively in 3D culture. These miRNAs were also overexpressed in colorectal tumor specimens." + pmids: + - "21873159" + - text: KRAS mutation is associated with treatment response for metastatic colorectal cancer. + pmids: + - "21228335" + - text: Heterogeneous KRAS mutations within the primary colorectal tumor might play an important role for discordant KRAS status between primary and metastatic sites. + pmids: + - "21825899" + - text: STK33 downregulation or dominant mutant overexpression had no effect on KRAS signaling or survival of cancer cells. + pmids: + - "21742770" + - text: KRAS mutation strongly predicts for a lack of clinically meaningful benefit in colorectal cancer patients. + pmids: + - "21737635" + - text: K-rasVal12 and mutant Apc have a synergistic role in intestinal neoplasms + pmids: + - "21573497" + - text: "To define functions of STAT3 in vivo, authors test the impact of conditional inactivation of STAT3 in KRAS-driven PDAC." + pmids: + - "21586612" + - text: "demonstrate that mutant K-Ras enhances ETS2 loading onto the promoter, and ETS requires its transcriptional activity to increase GSK-3beta gene transcription in pancreatic cancer cells" + pmids: + - "21441955" + - text: the relationship between the mutation of K-ras gene and non-small cell lung cancer + pmids: + - "21645454" + - text: A pathway in which Max & RXRalpha inhibit miR-193a activates the PLAU & K-Ras oncogenes is important for distinct aspects of cellular transformation. miR-193a controls anchorage-independent growth in soft agar through K-Ras. + pmids: + - "21670079" + - text: Neoadjuvant chemoradiotherapy did not alter KRAS codon 12 or 13 or microsatellite instability results in rectal adenocarcinoma. + pmids: + - "21836482" + - text: A novel polymorphism in codon 25 of the KRAS gene associated with gallbladder carcinoma patients of the eastern part of India + pmids: + - "21375404" + - text: KRAS mutations are not associated with response to Bexarotene plus erlotinib therapy in lung carcinogenesis. + pmids: + - "21636548" + - text: The frequency of KRAS mutations was significantly higher in lesions with the adenomatous pattern than in lesions with the hyperplastic pattern. + pmids: + - "21427714" + - text: Data show distinct significant correlations between TITF-1 protein expression and DNA copy gain with mutations in the lung adenocarcinoma-prevalent EGFR and KRAS oncogenes. + pmids: + - "21257719" + - text: low- and high-resolution mapping of nucleosome boundaries around p53 REs within the p21 promoter have provided insight into the mechanism of p53 binding to its sites in cells and the consequent changes in nucleosome occupancy at such sites + pmids: + - "21606339" + - text: Stromal cells in colorectal carcinoma do not share KRAS mutations that the epithelial component harbors. + pmids: + - "21624768" + - text: Heterogeneity of KRAS and BRAF mutation status intra-tumorally in colorectal cancer was assessed. + pmids: + - "21483104" + - text: Effective inhibition of the EGFR signaling by the drug combination in KRAS wild-type cells but not in KRAS mutant cells. + pmids: + - "21385921" + - text: "Case Report: KRAS-mutation positive, metastatic tonsil carcinoma with cancer stem-like cell features and long-term response to gefitinib." + pmids: + - "21555681" + - text: "KRAS mutation seems to be associated with metastasis in specific sites, lung and brain, in colorectal cancer patients" + pmids: + - "21239505" + - text: mutations at codon 12 in plasma DNA is not a prognostic factor in advanced non-small cell lung cancer patients + pmids: + - "21074889" + - text: evaluation of the status of 90 non-selected colorectal cancer Peruvian patients; only 16.7% (15/90) of tumours exhibited KRAS mutations (codons 12 and 13) + pmids: + - "21436632" + - text: "Mutation of oncogene K-ras at codon 12 and codon 13 is a common molecular event in colorectal carcinogenesis, which might be related with age and tumor location." + pmids: + - "21055216" + - text: TF may participate in both K-ras and p53 mutations involved in colorectal carcinogenesis. + pmids: + - "21404058" + - text: A review of several studies revealed a high rate of compliance of the KRAS gene mutational status in primary and metastatic tumors. + pmids: + - "21478103" + - text: Frequent mutations of KRAS in addition to BRAF in colorectal serrated adenocarcinoma + pmids: + - "21457162" + - text: Expression of chemokine receptor CCR5 correlates with the presence of hepatic molecular metastases in K-ras positive colorectal cancer. + pmids: + - "21468700" + - text: Grossly polypoid colorectal adenocarcinomas with a persistent pre-existing adenomatous polyp with villous architecture are strongly associated with KRAS mutations. + pmids: + - "21665177" + - text: Activated K-Ras protein accelerates human MLL/AF4-induced leukemo-lymphomogenicity in a transgenic mouse model. + pmids: + - "21311557" + - text: The diagnostic utility of detecting K-ras mutations for the diagnosis of exocrine pancreatic cancer (EPC) has not been properly studied + pmids: + - "21298467" + - text: data indicated that colorectal cancers with KRAS and PIK3CA bi-mutations are more likely to develop into liver metastasis + pmids: + - "21424126" + - text: "Folding motifs have been uncovered in a nuclease hypersensitive element (NHE) with a complex guanine pattern, located in the human KRAS promoter. A new G-rich motif of 21 nt capable of forming a parallel G-quadruplex was disrupted by bound protein UP1." + pmids: + - "21424008" + - text: Alterations of the KRAS gene is associated with myelodysplastic syndromes and acute myeloid leukemia. + pmids: + - "21283084" + - text: "analysis of gallbladder carcinomas, gallbladder adenomas, and high-grade dysplastic lesions for the BRAF and the KRAS mutations" + pmids: + - "21307665" + - text: "Primary esophageal melanomas of Caucasian patients harbor mutations of c-Kit, KRAS and BRAF in varied frequencies." + pmids: + - "21131919" + - text: "Studies indicate that the function of PKCdelta in tumor cells depends on a specific oncogenic context, as loss of PKCdelta in NSCLC cells suppressed transformed growth only in cells dependent on oncogenic K-ras for proliferation and survival." + pmids: + - "21335545" + - text: Combined KRAS and TP53 mutation status is not predictive in CAPOX-treated metastatic colorectal cancer. + pmids: + - "21508389" + - text: "Studies identify a novel proapoptotic gene target, CYFIP2, which is downregulated by IMP-1, and mediates the regulation of cell survival and K-Ras expression in colon cancer cells." + pmids: + - "21252116" + - text: Findings suggest strategies to target nucleolin as a general approach to inhibiting ErbB- and Ras-driven cancers. + pmids: + - "21257709" + - text: c-Raf plays a unique role in mediating K-Ras signaling in non-small cell lung carcinoma and makes it a suitable target for therapeutic intervention. + pmids: + - "21514245" + - text: "Amplification of the driving oncogene, KRAS or BRAF, underpins acquired resistance to MEK1/2 inhibitors in colorectal cancer cells." + pmids: + - "21447798" + - text: "K-ras gene mutation is a common event in Chinese colorectal cancer (CRC) patients, but may not be a prognostic factor in CRC , while BRAF is rarely mutated in Chinese CRC patients." + pmids: + - "21390154" + - text: NF-kappaB activation is a novel target of oncogenic KRAS in endometrial carcinogenesis + pmids: + - "21411444" + - text: mutation kit analysis identified a total rate of 44.8% mutations in patients with colorectal cancer; most mutations (82.4%) were identified within codon 12 and the minority on codon 13 + pmids: + - "21678640" + - text: KRAS-mutated non-small cell lung cancer cells are responsive to either co-treatment with erlotinib or gefitinib and histone deacetylase inhibitors or single treatment with lapatinib. + pmids: + - "21271222" + - text: Ubiquitination of K-Ras enhances activation and facilitates binding to select downstream effectors. + pmids: + - "21386094" + - text: "Allele-specific qPCR assays for the most frequent activating mutations in EGFR, KRAS, BRAF and PIK3CA in tumor-positive fine needle cytological aspirates were compared against histological material of primary tumors." + pmids: + - "21408138" + - text: autophagy is critically involved in malignant transformation by oncogenic K-Ras and show that reactive oxygen species-mediated JNK activation plays a causal role in autophagy induction through up-regulation of ATG5 and ATG7. + pmids: + - "21300795" + - text: 140/513 (27.3%) colorectal tumors wildtype for KRAS codons 12 and 13 harbored a mutation in another of the RAS pathway genes. + pmids: + - "21305640" + - text: study analyzed 90 samples of cutaneous T-cell lymphomas patients and found 2 KRAS (G13D) and 2 NRAS (Q61K) mutations + pmids: + - "21209378" + - text: "study demonstrates that chip-based TGCE is capable of rapidly screening low-abundance K-ras mutations with high sensitivity, reproducibility, simplicity, and significant savings of time and sample" + pmids: + - "21242956" + - text: these results suggest that a considerable proportion of NSCLC in Chinese population showed discrepancy in KRAS and EGFR mutation status between primary tumors and corresponding metastases. + pmids: + - "21414214" + - text: the role of Pim-1 in pancreatic ductal adenocarcinoma (PDAC) growth transformation and validate Pim-1 kinase as a potential molecular marker for mutated K-Ras activity. + pmids: + - "21262926" + - text: KRAS mutations in 23 adenosquamous carcinomas of lung + pmids: + - "21502435" + - text: findings indicate that somatic mutations in KRAS and PIK3CA but not BRAF oncogenes are closely associated with the development of cholangiocarcinoma in Chinese population + pmids: + - "21051183" + - text: K-ras mutations were involved in colorectal laterally-spreading tumors in different manners according to tumor location. + pmids: + - "21332555" + - text: The KRAS variant might be a genetic marker for development of triple-negative breast cancer in premenopausal women. + pmids: + - "21435948" + - text: Semiquantitative analysis of K-ras point mutation in endoscopically-collected pancreatic juice appears to be a useful tool for identifying chronic pancreatitis patients at high risk for developing pancreatic cancer. + pmids: + - "21510309" + - text: KRAS mutational analysis provides useful additional risk stratification to guide use of adjuvant chemotherapy in colorectal cancer. + pmids: + - "21383284" + - text: Suggest that most (but not all) commercial services provide analysis that is accurate and comparable with direct sequencing for KRAS mutations in colorectal neoplasms. + pmids: + - "20398393" + - text: PIK3CA mutations may have a role in KRAS and BRAF wild type colorectal cancer + pmids: + - "20571907" + - text: "HER2, but not EGFR gene amplification, is frequently observed in KRAS and BRAF wild type colorectal cancer patients" + pmids: + - "20563851" + - text: KRAS mutation is associated with anti-EGFR therapy response in colorectal cancer. + pmids: + - "20718705" + - text: Somatic mutations in K-ras and epigenetic alterations in SFRP2 genes play a role in development of mucinous type anal adenocarcinoma. + pmids: + - "20686305" + - text: We report 2 cases with Autoimmune lymphoproliferative syndrome-like disease with somatic KRAS mutation + pmids: + - "21063026" + - text: we demonstrate that somatic mutations in the related KRAS gene can also be associated with a nonmalignant syndrome of autoimmunity and breakdown of leukocyte homeostasis + pmids: + - "21079152" + - text: "Mutations in PIK3CA, KRAS and NRAS were exclusive to tumors of uterine origin and age-adjusted Cox proportional hazards modeling associated advanced age, stage and TP53 mutations with decreased survival in the uterine subset." + pmids: + - "21168197" + - text: Kras(G12D) allele promotes metastasis in pancreatic cancer cells partly through the downregulation of E-cadherin. + pmids: + - "21364589" + - text: Both primary tumours and liver metastases can be used for KRAS mutation analysis. + pmids: + - "21364579" + - text: "Data show that among 181 CRC patients, stratified by microsatellite instability status, DNA sequence changes were identified in KRAS (32%), BRAF (16%), PIK3CA (4%), PTEN (14%) and TP53 (51%)." + pmids: + - "21103049" + - text: Study suggests that concomitant expression of MMP-7 and IGF type 1 receptor correlates with poor prognosis in WT KRAS patients treated with anti-EGFR. + pmids: + - "21099348" + - text: KRAS mutation analysis helps to differentiate between pulmonary metastasis from colon adenocarcinoma in situ and primary lung adenocarcinoma + pmids: + - "21178719" + - text: Kras mutation plus increased copy number is associated with non-small cell lung cancer. + pmids: + - "21150464" + - text: "oncogenic Ras efficiently activates the ERK pathway both by activating Raf and by inhibiting MEK SUMOylation, thereby inducing carcinogenesis" + pmids: + - "21336309" + - text: KRAS mutations arise more frequently than BRAF mutations in Moroccan patients with colorectal carcinomas. + pmids: + - "21161938" + - text: KRAS(G12V) enhances proliferation and initiates myelomonocytic differentiation in human stem/progenitor cells via intrinsic and extrinsic pathways. + pmids: + - "21169357" + - text: Hepatocellular carcinoma with persistent hepatitis B virus infection shows unusual downregulation of Ras expression and differential response to Ras mediated signaling. + pmids: + - "21175807" + - text: "K-ras mutations appear more homogeneously distributed than methylation of p16 and MGMT and LOH at 18q, 17p, and 5q in colorectal cancer" + pmids: + - "21109984" + - text: Pyrosequencing provided sufficient analytical sensitivity and specificity to assess the KRAS mutation status in routine formalin-fixed CRC samples. + pmids: + - "21122130" + - text: "Results are the first to indicate that the KRAS 3'UTR polymorphism may predict for cetuximab responsiveness in KRASwt mCRC patients." + pmids: + - "20603437" + - text: "Mutations of EGFR, BRAF, and KRAS in adenocarcinoma were mutually exclusive and inversely correlated with RASSF1A methylation" + pmids: + - "21102258" + - text: study supports that mutations in the KRAS gene make at least a minor contribution to OSCC tumorigenesis + pmids: + - "20813562" + - text: Data show that KRAS mutation and PTEN protein expression are significantly correlated with the response rate and survival time of Chinese metastatic colorectal cancer patients treated with cetuximab. + pmids: + - "21155011" + - text: Mutated KRAS status in tumors of Japanese patients with metastatic colorectal cancer is associated with lack of response to panitumumab therapy + pmids: + - "21169348" + - text: Twenty paired specimens of colorectal cancer and adjacent normal tissues were examined for K-ras mutations and annexin A1 expression. + pmids: + - "21127395" + - text: Data show that KRAS mutation was detected in 201 tumours (39.4%). + pmids: + - "19453520" + - text: 18/19 (94.7%) metastatic colorectal cancer smears were perfectly adequate for codon 12 and 13 KRAS mutational analysis by direct gene sequencing. + pmids: + - "20049979" + - text: Multiple cellular proteins control the dynamics of membrane association and intercompartmental movement of K-ras to an important degree even under basal cellular conditions. + pmids: + - "21081081" + - text: There was an incremental increase in KRAS mutation frequency with increasing villous compartment of colorectal neoplasms. + pmids: + - "21263241" + - text: The KRAS mutation is a negative predictive factor for survival in patients rectal and colon cancer. + pmids: + - "20959826" + - text: "Compared with wild-type KRAS colorectal cancers, KRAS-mutated CRCs had a lower frequency of high microsatellite instabilities, a higher chance of having brisk mitosis and apoptosis, and a greater mean of mitotic figures and apoptotic cells" + pmids: + - "21228365" + - text: "review focused on KRAS gene mutations with special reference to lung cancers, and pointed out important issues remaining to be resolved [review]" + pmids: + - "20846262" + - text: "K-ras exon 1 gene mutations were found with low frequency in the bladder cancer tumors from Kashmir valley, which suggests that K-ras gene might be involved in a sub-set of bladder tumors." + pmids: + - "20845292" + - text: Report on the clinical utility of reflex testing of resected stage I through III lung adenocarcinomas for EGFR and KRAS mutatations. + pmids: + - "20933246" + - text: "Data show that FcgammaRIIa and FcgammaRIIIa polymorphisms are not useful as molecular markers for outcome in mCRC patients, and KRAS status and skin toxicity are the only reliable biomarkers to identify patients that would benefit from anti-EGFR therapy." + pmids: + - "20550522" + - text: KRAS signaling pathway alterations in microsatellite unstable gastrointestinal cancers. + pmids: + - "21070916" + - text: "KRAS and RREB1 are targets of miR-143/miR-145, revealing a feed-forward mechanism that potentiates Ras signaling" + pmids: + - "21159816" + - text: "Mutations in KRAS and BRAF genes are not directly implicated in the development of a MELF (macrocystic, elongated, and fragmented) pattern of invasion in endometrial carcinoma." + pmids: + - "20591910" + - text: Kras gene mutation and copy number is associated with thymic carcinomas and thymomas. + pmids: + - "20871271" + - text: KRAS mutation is associated with lung cancer. + pmids: + - "20871266" + - text: "40 KRAS wild-type, 40 codon 12-mutated and 32 codon-13 mutated samples were analysed by Ampli-set-K-RAS and K-RAS StripAssay kit." + pmids: + - "21187522" + - text: "In a group of clinically selected patients, EGFR and KRAS analysis was able to define distinct molecular subsets of lung adenocarcinoma." + pmids: + - "21187500" + - text: Sixty-nine per cent of endocervical-like mucinous borderline tumour of the ovary showed KRAS mutations + pmids: + - "20955384" + - text: "The amplification-refractory mutation system with formalin-fixed, paraffin-embedded specimen-derived DNA samples of the human KRAS protein exhibited an acceptable feasibility and robustness suitable for routine clinical practice." + pmids: + - "20696815" + - text: "data provide evidence that c-Kit, p53 codon 72, and K-ras codon 12 are independent prognostic factors in patients with stage II colorectal cancer" + pmids: + - "20652953" + - text: The meta-analysis strongly suggests that KRAS mutations represent adverse predictive and prognostic biomarkers for tumour response and survival in mCRC patients treated with cetuximab. + pmids: + - "20580219" + - text: Data reveal that HIF-1alpha and HIF-2alpha work together to modulate cancer metabolism and regulate genes signature overlapping with oncogenic KRAS. + pmids: + - "21073737" + - text: "Using traditional PCR and direct sequencing, we found KRAS mutations in 47 (40%) patients and BRAF(V600E) in 10 (8.5%)" + pmids: + - "20616366" + - text: "presence of activating KRAS mutations is significantly correlated to an upregulation of 13 genes (adjusted P-value <0.05), among them DUSP4, a MAP-kinase phosphatase, and SMYD3, a histone methyltransferase" + pmids: + - "20725992" + - text: Genetic alterations of K-ras may reflect prognosis in stage III colon cancer patients below 60 years of age. + pmids: + - "21031422" + - text: "KRAS mutations are a predictor of resistance to panitumumab or cetuximab.Studies of patients receiving treatment show that tumors carrying KRAS mutations don't respond to EGFR-targeted monoclonal antibodies or show survival benefit from such treatments." + pmids: + - "21129611" + - text: KRAS gene mutations are widely recognized alterations involved in biology and the clinical management of lung adenocarcinoma.This review reports the molecular bases that have led clinical application of detection for such genetic impairments. + pmids: + - "21129606" + - text: "This review focuses on current knowledge regarding the molecular landscape of metastatic colorectal cancer including and beyond KRAS, and will summarize novel rationally-developed combinatorial regimens that are being evaluated in early clinical trials." + pmids: + - "21129603" + - text: data show that EGFR gene copy number and KRAS mutation status are neither predictive nor prognostic factors for pathological tumour response and disease-free survival in locally advanced rectal cancer patients treated with preoperative chemoradiation + pmids: + - "20842128" + - text: Expression level of EGFR protein and mutation frequency of KRAS gene in primary tumors were higher than that in metastases. + pmids: + - "20840818" + - text: "K-ras mutation targeted to gastric tissue progenitor cells results in chronic inflammation, an altered microenvironment, and progression to intraepithelial neoplasia." + pmids: + - "20959488" + - text: KRASG12D is associated with pancreatic cancer. + pmids: + - "20959479" + - text: a natural history for hyperdiploid leukemia in which prenatal mitotic catastrophe is followed by a postnatal KRAS mutation to produce the leukemic cell phenotype. + pmids: + - "20688547" + - text: KRAS mutations were solely and significantly linked to ERK activation in lung adenocarcinoma. + pmids: + - "20117855" + - text: "Over expression of pro apoptotic markers: p27KIP1 and KRAS4A isoforms was significantly higher in CRC subset with TRAIL-R1 and TRAIL-R2 expression" + pmids: + - "20673328" + - text: Results reveal an unexpected role for WT1 as a key regulator of the genetic network of oncogenic KRAS and provide important insight into the mechanisms that regulate proliferation or senescence in response to oncogenic signals. + pmids: + - "20972333" + - text: "EML4-ALK fusion gene was present at a high frequency in Chinese NSCLC patients, particularly in those with adenocarcinomas lacking EGFR/KRAS mutations" + pmids: + - "20624322" + - text: REsults show a high concordance in the KRAS status between the primary tumour and metastases. + pmids: + - "21036746" + - text: KRAS mutation-positive lung cancer displaying high levels of Myc could be treated by inhibiting Myc transactivation function. + pmids: + - "21036740" + - text: "Observational study of gene-disease association, gene-gene interaction, and gene-environment interaction. (HuGE Navigator)" + pmids: + - "20949557" + - text: Meta-analysis of gene-disease association. (HuGE Navigator) + pmids: + - "20840818" + - text: Noonan syndrome and systemic lupus erythematosus is reported in a patient with a novel KRAS mutation. + pmids: + - "20810036" + - text: KRAS gene mutations are associated with lung adenocarcinomas with features of the mucinous subtype of bronchioloalveolar carcinoma. + pmids: + - "20661086" + - text: Wild-type K-Ras.GTP in association with Gal-3 contributes to thyroid carcinoma malignancy. + pmids: + - "20682656" + - text: The formalin-fixed and paraffin-embedded samples from 60 patients with colorectal cancer were tested and 19 mutations were detected in KRAS gene. + pmids: + - "20482381" + - text: analysis of KRAS mutations in Slovene patients with colorectal cancer + pmids: + - "20372787" + - text: KRAS gene mutations are associated with non-small cell lung cancer. + pmids: + - "20559151" + - text: KRAS mutations are associated with lung adenocarcinomas. + pmids: + - "20559149" + - text: Findings support the hypothesis that the KRAS-variant is a genetic marker for increased risk of developing OC and suggest that the KRAS-variant may be a new genetic marker of cancer risk for HBOC families without other known genetic abnormalities. + pmids: + - "20647319" + - text: "phosphoinositide 3-kinase and RAS-RAF pathways drive the activity of RAF265, a novel RAF/VEGFR2 inhibitor, and RAD001 (Everolimus) in combination" + pmids: + - "20124452" + - text: frequently downregulated miR-217 can regulate KRAS and function as a tumor suppressor in pancreatic ductal adenocarcinoma (PDAC). + pmids: + - "20675343" + - text: Specific KRAS mutation is an informative prognostic factor in both sporadic and hereditary CRC and applied in an algorithm with BRAF(V600E) and MSI may identify sporadic CRC patients with poor clinical outcome. + pmids: + - "20162668" + - text: "Only a single gene alteration, of uncertain role, was found in the KRAS gene in an Noonan syndrome patient also presenting a PTPN11 gene mutation." + pmids: + - "20578946" + - text: "although the PAK4 gene is not activated by mutation in cell lines with gene amplification, an oncogenic form of the KRAS2 gene is present in these cells and oncogenic KRAS2 can activate PAK4" + pmids: + - "18836286" + - text: "Results suggest that RAGE, NOX, and H-Ras/Raf-1 are implicated in the up-regulation of HSF1 or PAI-1 in vascular EC under diabetes-associated metabolic stress." + pmids: + - "20630999" + - text: Clinical relevance of KRAS in human cancers. + pmids: + - "20617134" + - text: "In KRAS mutant tumors, PIK3CA mutation restores cyclin D1 expression and G(1)-S cell cycle progression so that they are no longer dependent on KRAS and MEK/ERK signaling." + pmids: + - "20699365" + - text: "Several studies have demonstrated the absence of objective response in patients treated with irinotecan-cetuximab after failure of irinotecan, when the tumour presents a KRAS mutation." + pmids: + - "19702696" + - text: "biological, biochemical and prognostic significance of Ras pathway alterations in colorectal and other solid tumor malignancies; mutations in exon 4 of KRAS were found to occur commonly and to predict a more favorable clinical outcome in colorectal cancer" + pmids: + - "20570890" + - text: "Our study indicates for the first time, that oncogenic ras and loss of Smad signaling cooperate to upregulate EGFR and erbB2, which plays a role in promoting invasion." + pmids: + - "20473902" + - text: "Of the 750 cases of rectal cancer with tumor mutation information, 28.9% had a KRAS2 mutation, and 48.3% had a TP53 mutation. The majority of both KRAS2 and TP53 mutations were transitions." + pmids: + - "20628283" + - text: "K-ras mutation in blood appears to indicate K-ras mutation in tumour, while the absence of blood K-ras mutation does not prove lack of mutation in the tumour." + pmids: + - "20683036" + - text: "Investigated the methylation of the SFRP2, P16, DAPK1, HIC1, and MGMT genes, as well as the mutation of amino acid codons 12 and 13 of the KRAS gene in normal and tumor tissue DNA of patients diagnosed with sporadic colorectal cancer." + pmids: + - "20682398" + - text: "if KRAS is not mutated, assessing BRAF, NRAS, and PIK3CA exon 20 mutations (in that order) gives additional information about the efficacy of cetuximab plus chemotherapy in metastatic colorectal cancer." + pmids: + - "20619739" + - text: activation of K-ras did not depend upon EGFR and resulted in the phosphorylation of Akt and induction of VEGF expression + pmids: + - "20532039" + - text: Findings identify miR-96 as a potent regulator of KRAS in pancreatic cancer. + pmids: + - "20610624" + - text: "The frequency of K-RAS gene mutations with non-small cell lung cancer in our center is very low and is similar to that in Asia patients, and is lower than that in Caucasian population." + pmids: + - "20681447" + - text: "Screening for BRAF, RET, KRAS, NRAS, and HRAS mutations, as well as RET-PTC1 and RET-PTC3 rearrangements, was performed on cases of Hashimoto thyroiditis with a dominant nodule" + pmids: + - "20012784" + - text: Only one mutation in the K-RAS gene was identified in tonsil squamous cell carcinoma cohorts. + pmids: + - "20459770" + - text: High resolution melting is a reliable screening method to identify mutations in the KRAS gene in colorectal cancer. + pmids: + - "20575464" + - text: Observed a significant association of SMAD4 gene aberrations with KRAS mutant status suggesting the involvement of at least two molecules in the advanced tumor grade in colorectal cancers in a Kashmiri population. + pmids: + - "20565773" + - text: KRAS mutations are very infrequent in triple-negative breast tumors. + pmids: + - "20385028" + - text: K-ras mutations did not have any significant effect on Sorafenib treated patients with advanced non-small cell lung cancer. + pmids: + - "20421765" + - text: PCR is practically applicable to KRAS/BRAF genotyping using small amounts of biopsied colorectal tumor cells. + pmids: + - "20627194" + - text: KRAS mutations contribute to evolution of chronic myelomonocytic leukemia to the proliferative variant. + pmids: + - "20371679" + - text: Mutations in KRAS is associated with lung adenocarcinoma. + pmids: + - "20150826" + - text: assessment of KRAS mutations in juvenile myelomonocytic leukaemia + pmids: + - "19874312" + - text: Our results showed significant number of EGFR FISH positive/amplified lung adenocarcinomas harboring KRAS mutation + pmids: + - "20381121" + - text: KRAS mutations only in metastases is not associated with resistance to anti-EGFR treatment in primary colorectal tumors. + pmids: + - "20049644" + - text: assessment of K-ras gene expression changes in the development of the HPV positive cervical cancers; findings indicate high expression of ras among high risk HPV infection can be a marker of cervical cancer development + pmids: + - "20583472" + - text: analysis of EGFR and KRAS mutations in non-small cell lung cancer (NSCLC) patients treated with tyrosine kinase inhibitors + pmids: + - "20592359" + - text: frequency of KRAS and p53-Ab correlates with tumor stage only in the Type I endometrial carcinoma + pmids: + - "19960433" + - text: "Mutations in TP53, KRAS, or EGFR are not major contributors to the RCC development even in the absence of VHL inactivation." + pmids: + - "20137853" + - text: "In line with a redirection of autocrine toward paracrine HH signaling by a KRAS-DYRK1B network, we find high levels of GLI1 expression restricted to the stromal compartment and not to SHH-expressing tumor cells in pancreatic adenocarcinoma." + pmids: + - "20512148" + - text: KRAS mutation is associated with resistance to EGFR-I therapy in colon cancer. + pmids: + - "19936839" + - text: Mutation in KRAS reduces the effectiveness of Cetuximab combined with chemotherapy in advanced colorectal cancer patients. + pmids: + - "19921572" + - text: "data support the model of BRAF and K-ras mutations arising in distinct colorectal cancer subsets associated with different clinicopathological and dietary factors, acting as mutually exclusive mechanisms of activation of the same signalling pathway" + pmids: + - "20233436" + - text: KRAS mutations are associated with relapsed childhood high hyperdiploid acute lymphoblastic leukemia. + pmids: + - "20237506" + - text: The high number of KRAS mutations in codons 61 and 146 emphasizes the importance to expand current mutation analyses + pmids: + - "19913317" + - text: "developed two multiplex assays that simultaneously screen 22 nucleotides in the KRAS, NRAS, BRAF and PIK3CA genes for mutations. The assays were validated on 294 tumor DNA samples from patients with advanced colorectal cancer" + pmids: + - "20098682" + - text: Matrix-assisted laser desorption ionization remains a potent and highly clinically significant predictor of survival after first-line treatment with erlotinib in non-smll-cell lung patients with wild-type EGFR and independent of mutations in KRAS. + pmids: + - "20035238" + - text: KRAS mutations in traditional serrated adenomas from Korea herald an aggressive phenotype. + pmids: + - "20305537" + - text: Tumors from A/J and cBy mice displayed different Kras mutations that were remarkably similar to the variations in mutation spectrum reported in smokers and never smokers. + pmids: + - "20101149" + - text: KRAS mutation correlates with accelerated metastatic progression in patients with colorectal liver metastases. + pmids: + - "19727962" + - text: KRAS mutation and microsatellite instability are associated with colorectal cancer. + pmids: + - "19813061" + - text: "whereas H-Ras and N-Ras were unable to localize to the plasma membrane in the presence of USP17, K-Ras4b localization was unaffected" + pmids: + - "20147298" + - text: "EGFR and KRAS mutations were found in 33 (10%) and 78 (23%) of lung adenocarcinomas, respectively, whereas 226 (67%) cases were negative for both mutations" + pmids: + - "19855375" + - text: analysis of KRAS mutation in tumor samples by PCR and sequence analysis + pmids: + - "19888477" + - text: "existing evidence on the relationship between K-ras mutations and tobacco smoking in adenocarcinomas of the pancreas, colorectum and lung [review]" + pmids: + - "19651236" + - text: "K-RAS codon 12 GAT mutation is present at measurable levels in normal appearing mucosa. All tumors carried K-RAS mutation, in most cases as a mutant subpopulation." + pmids: + - "20307197" + - text: "incidence of KRAS mutation; KRAS splice variants: KRAS4A & KRAS4B in colorectal cancer(CRC); results highlight role of KRAS isoforms in CRC, their utility as a prognostic biomarker & importance of KRAS alterations as a potential therapeutic target" + pmids: + - "19824059" + - text: "KRAS mutation testing, preferably at diagnosis, must now be considered a new standard of care for patients with metastatic colorectal cancer being considered for EGFR-targeting" + pmids: + - "20100685" + - text: "Our study suggests that mutations of KRAS, not BRAF, may play a role in the pathogenesis of prostate carcinoma in Chinese patients." + pmids: + - "20303012" + - text: "VEGFR1, VEGFR2, and PDGFRalpha are over-expressed in K-ras mutated colorectal adenocarcinoma." + pmids: + - "19936766" + - text: In this study the presence of mutations at codon 12 of the KRAS gene in 78 women with ovarian tumor were studied to see if there was a link. + pmids: + - "19995707" + - text: LIN28B plays an important role in radiation responses of lung cancer cells through inhibiting let-7g microRNA processing and increasing translation of KRAS. + pmids: + - "19745602" + - text: These results suggest a role for KRAS mutations in the propensity of primary colorectal tumors to metastasize to the lung. + pmids: + - "20020061" + - text: The study suggests that activating KRAS mutants is a particularly important independent predictive marker in metastatic colorectal cancer patients treated with cetuximab + pmids: + - "20010090" + - text: Study identified the previously reported pathogenic mutation of NTRK3 in a KRAS/BRAF wild-type tumor and 2 somatic mutations in the Src family of kinases (YES1 and LYN) that would be expected to cause structural changes. + pmids: + - "19893451" + - text: Data show that NF-kappaB functions downstream of Ras to promote epigenetic downregulation of FBP1. + pmids: + - "19881551" + - text: Data show that the presence of a K-ras mutation (13.3%) was not associated with either PFS or OS. + pmids: + - "19629485" + - text: EGFR/KRAS mutation testing of multiple lung adenocarcinomas can assist in differentiating multiple primary lung adenocarcinomas from metastatic lesions. + pmids: + - "19376842" + - text: organochlorine compounds and coffee may have independent roles in the aetiopathogenesis of pancreatic ductal adenocarcinoma through modulation of KRAS activation + pmids: + - "19797353" + - text: "In colorectal neoplasms a mutation frequency of 40% and a cluster of three mutation types (p.G12D, pG12V, and p.G13D) in primaries and metastases can be defined as benchmarks for routine KRAS analyses." + pmids: + - "19679400" + - text: "High-throughput copy number and gene expression data of 36 microsatellite stable sporadic colon cancers resected from patients of a single institution characterized for mutations in APC, KRAS, TP53 and loss of 18q were analyzed." + pmids: + - "19672874" + - text: "Studies provide models for Ras in association with Raf kinase, RalGDS and PI3Kalpha and PI3Kgamma." + pmids: + - "19801192" + - text: "Investigated the prevalence of PTPN11, HRAS, KRAS, NRAS, BRAF, MEK1, and MEK2 mutations in a relatively large cohort of primary embryonal Rhabdomyosarcoma (RMS) tumors. HRAS and KRAS were found to be rarely mutated." + pmids: + - "19681119" + - text: Molecular studies showed 3 (20%) of 15 oncocytic adenocarcinomas of lung with EGFR mutations and 3 additional cases with KRAS mutations. + pmids: + - "20023269" + - text: "Uncategorized study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "19956635" + - text: BRAF and KRAS oncogenes have different transforming capability in colon cancer + pmids: + - "19881948" + - text: No difference in outcome was seen between patients harboring KRAS transition versus transversion mutations in non-small cell lung cancer. + pmids: + - "19671843" + - text: study of KRAS/BRAF mutation status in a large and well-documented cohort of primary and metastatic renal cell carcinoma + pmids: + - "19282104" + - text: "BRAF status, EGFR amplification, and cytoplasmic expression of PTEN were associated with outcome measures in KRAS wild-type patients treated with a cetuximab-based regimen." + pmids: + - "19884556" + - text: KRAS and BRAF mutations in advanced colorectal cancer are associated with poor prognosis but do not preclude benefit from oxaliplatin or irinotecan. + pmids: + - "19884549" + - text: EGFR and KRAS status of primary lung carcinomas may not predict the status in the corresponding metastases. + pmids: + - "19740513" + - text: Suppression of TBK1 induced apoptosis specifically in human cancer cell lines that depend on oncogenic KRAS expression + pmids: + - "19847166" + - text: mutations are associated with post-operative recurrence of lung adenocarcinomas + pmids: + - "19162366" + - text: overexpressed wild-type KRAS has a role in downstream signaling and cancer cell growth + pmids: + - "19545448" + - text: "k-ras mutations are associated with advanced pancreatic carcinoma in response to combined gefitinib, paclitaxel, and 3-dimensional conformal radiation treatment." + pmids: + - "19307945" + - text: KRAS mutations are associated with non-small cell lung cancers. + pmids: + - "19787214" + - text: "Alterations in TP53, APC, K-ras, and DCC genes in the non-dysplastic ulcerative colitis and Crohn's disease colon, were analyzed." + pmids: + - "19543899" + - text: KRAS mutations correlate with expression of DCN and TPM1 in colorectal cancer. + pmids: + - "19678923" + - text: "Oncogenic KRAS and BRAF differentially regulate hypoxia-inducible factor-1alpha and -2alpha in colon cancer , and this may potentially contribute to the phenotypic differences of KRAS and BRAF mutations in colon tumors." + pmids: + - "19843849" + - text: KRAS mutations affect tumor necrosis factor-induced apoptosis in colon carcinoma cells via ERK-modulatory negative and positive feedback circuits along with non-ERK pathway effects. + pmids: + - "19789336" + - text: K-RAS mutations were more frequent in males and were associated with smoking habits in 411 lung adenocarcinomas + pmids: + - "19724844" + - text: KRAS mutations are associated with colorectal neoplasms. + pmids: + - "19521964" + - text: RAS and CSF3R mutations in severe congenital neutropenia. + pmids: + - "19833857" + - text: "oncogenic properties of KRAS and BRAF but not NRAS, HRAS, and PIK3CA contribute to the tumorigenesis of periampullary and ampullary tumors" + pmids: + - "19440799" + - text: KRAS mutation is associated with sarcomatoid carcinomas of the lung. + pmids: + - "19681124" + - text: Mutations in KRAS protein is associated with Colorectal Carcinoma. + pmids: + - "19679059" + - text: "Detection of KRAS mutational status in CTCs, by gene expression array, has potential for clinical application in selecting metastatic colorectal cancer patients most likely to benefit from cetuximab therapy." + pmids: + - "19549774" + - text: In all cases of our series of patients with squamous cell anal carcinoma wild-type K-ras was observed. + pmids: + - "19727729" + - text: "Results suggest that the mutations of EGFR, KRAS, BRAF between primary tumors and corresponding lymph node metastases should be considered whenever mutations are used for the selection of patients for EGFR-directed tyrosine kinase inhibitor therapy." + pmids: + - "19584155" + - text: "a sizable subgroup of non-small cell lung carcinomas harbor KRAS amplification, some of which also contain point mutations, and suggest that an increased KRAS copy number may drive p21 overexpression." + pmids: + - "19762526" + - text: study of colorectal cancer cell lines that differed only in the mutational status of their KRAS or BRAF genes; data suggest that glucose deprivation can drive acquisition of KRAS pathway mutations in tumors + pmids: + - "19661383" + - text: "Data demonstrate that the hypervariable region of K-Ras4B contributes in a major way to the interaction with calmodulin, while the catalytic domain of K-Ras4B provides a way to control the interaction by nucleotide binding." + pmids: + - "19583261" + - text: data confirm that KRAS and BRAF mutations do occur in the same cell and that BRAF V600E mutation is associated with CIMP+ status. + pmids: + - "19474002" + - text: KRAS mutation may only be involved in carcinogenesis of partial gastric cancers and the different mutation types of KRAS may take part in development of gastric cancer at different stages. + pmids: + - "19639197" + - text: strong inter-relation between DR4 AND DR5 overexpression and presence of oncogenic KRAS/ BRAF mutations in colon cancer. + pmids: + - "19637313" + - text: Mutation pattern of K-ras gene is associated with colorectal cancer. + pmids: + - "19574674" + - text: Observational study of gene-disease association and DATA ERROR. (HuGE Navigator) + pmids: + - "19669908" + - text: Assessing KRAS and BRAF mutations might help optimising the selection of the candidate metastatic colorectal cancer patients to receive anti-EGFR moAbs. + pmids: + - "19603018" + - text: "Mutations in KRAS were found in 30% patients in the low-grade carcinoma group, however, they were not found in the high-grade carcinoma group. KRAS and BRAF mutations were mutually exclusive, and both mutations were observed in 40%." + pmids: + - "19430562" + - text: "Review: KRAS mutation testing in colorectal cancer." + pmids: + - "19546608" + - text: "EGFR-targeting monoclonal antibodies such as cetuximab or panitumumab are ineffective in patients with activating mutations in KRAS.[review]" + pmids: + - "19390304" + - text: "MGMT hypermethylation is associated with G:C > A:T mutations in KRAS, but not in APC, suggesting that MGMT hypermethylation may succeed APC mutations but precedes KRAS mutations in colorectal carcinogenesis." + pmids: + - "19164452" + - text: KRAS mutation was associated with lack of response (P=0.002) and shorter progress free survival (P=0.09) in patients with metastatic colorectal cancer. + pmids: + - "19603024" + - text: "Clinical trial of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "20855820" + - "20702788" + - "20603437" + - "20530271" + - "20418097" + - "20395213" + - "20068568" + - "20038723" + - "19934290" + - "19884549" + - "19672255" + - "19671843" + - "19549707" + - text: "study reports on the occurrence of premature closure of cranial sutures in subjects with Noonan syndrome, and their specific association with mutations in the KRAS gene" + pmids: + - "19396835" + - text: Ki-ras mutations (Table 3) showed that rectal tumors were more likely to have mutations in Codons 12 and 13 than either proximal or distal colon tumors + pmids: + - "19571709" + - text: We found KRAS2 gene mutations at codon 12 in all eight cases of Adenosquamous carcinoma of the pancreas + pmids: + - "19270646" + - text: quercetin and luteolin significantly decreased ERK phosphorylation + pmids: + - "19344998" + - text: Mutation in KRAS is associated with adrenocortical carcinomas. + pmids: + - "19190079" + - text: hnRNP A1/Up1 completely abrogates the cooperative quadruplex-to-ssDNA transition that characterizes the KRAS quadruplex and facilitates the association between the quadruplex and its complementary polypyrimidine strand. + pmids: + - "19282454" + - text: "KRAS mutation is a relatively common event in endometrial carcinogenesis, but with no prognostic value." + pmids: + - "19419940" + - text: "Codons 12 & 13 of K-ras were mutated in 23.33% of patients. 28.57% were at codon 12, 57.14% were at codon 13, & 14.29% at both. They were more frequent in tumors in the left hemicolon and in well-differentiated adenocarcinomas & mucinous carcinomas." + pmids: + - "19418727" + - text: "miR-18a* may function as a tumor suppressor by targeting on K-Ras. Therefore, the miRNA may also be a potential therapeutic agent or target for cancer therapy." + pmids: + - "19372139" + - text: "p21(Ras)-mediated survival signaling is regulated by via a PI(3)K-AKT pathway, which is dependent upon both PDK1 and PKCdelta, and PDK1 activates and regulates PKCdelta to determine the fate of cells containing a mutated, activated p21(Ras)." + pmids: + - "19146951" + - text: cases with the KRAS-LCS6 variant have significantly reduced survival time and suggest that this variant may alter the phenotype or therapeutic response of this disease. + pmids: + - "19380522" + - text: KRAS mutations were found in 60 (15%) samples with 58 ovarian samples deriving from malignant tissue and 2 samples deriving from benign tissue. + pmids: + - "19358724" + - text: These findings point to a previously underappreciated role of Ras in mitotic progression and demonstrate that mitotic stress induced by the Ras oncogene. + pmids: + - "19490893" + - text: Observational study of gene-disease association and genetic testing. (HuGE Navigator) + pmids: + - "20959826" + - "19478384" + - text: "In this review, we summarize the initial discovery of RAS mutations in NSCLC, describe work exploring associations with clinical factors and outcomes, and provide an overview of current approaches to targeting KRAS mutant NSCLC." + pmids: + - "19349489" + - text: KRAS mutational analyses could help to identify a subgroup of patients with metastatic colorectal neoplasms who have higher chances of benefiting from EGFR inhibition. + pmids: + - "19398573" + - text: Report the importance of KRAS mutations and EGF61A>G polymorphism to the effect of cetuximab and irinotecan in metastatic colorectal cancer. + pmids: + - "19179548" + - text: "Our data provide evidence that PIK3CA and BRAF contribute to the tumorigenesis of IPMN/IPMC, but at a lower frequency than KRAS." + pmids: + - "18343945" + - text: activation of PIK3CA may be an important molecular event contributing to the maintenance of OSE transformation initiated by oncogenes such as K-ras + pmids: + - "19172191" + - text: Several key studies have demonstrated that patients with mutant KRAS do not respond to treatment with epidermal growth factor inhibitors. This finding has several implications for clinicians who treat patients with metastatic colorectal cancer. + pmids: + - "19378369" + - text: mutation in KRAS were associated with increased resistance to gefitinib in lung cancer cell lines + pmids: + - "19238210" + - text: "Mutations of KRAS were present in 9.6% (9 of 94) of the samples: eight in codon 12 and one in codon 13. EGFR mutations were never found in tumors with KRAS mutations, suggesting a mutually exclusive relationship." + pmids: + - "19270482" + - text: "The frequency of KRAS mutations in the melanocytic aggregate (five of 18, 28%) was second to BRAF V600E, while in melanoma, the frequency was also second to BRAF V600E" + pmids: + - "18945298" + - text: The benefit of cetuximab was limited to patients with KRAS wild-type tumors. + pmids: + - "19339720" + - text: The genes involving MSI-L carcinogenesis are similar to MSS but the timing and frequency of the KRAS mutation is different. + pmids: + - "19147861" + - text: presence of the KRAS G12V mutation in the cells escaping apoptosis and inducing angiogenesis via IL8 may confer a more aggressive phenotype + pmids: + - "19087308" + - text: Distinct BRAF (V600E) and KRAS mutations in high microsatellite instability sporadic colorectal cancer in African Americans. + pmids: + - "19190129" + - text: There was no significant predictive value for therapeutic response of K-ras mutations for advanced non-small cell lung cancer. + pmids: + - "19281127" + - text: to find kRAS mutations in bladder tumor samples + pmids: + - "19101897" + - text: "apart from K-ras codons 12/13 point mutations, overexpression of the ras family genes is important in the development of colorectal cancer but it appears not to be predictive of survival." + pmids: + - "18386236" + - text: "Mutational activation of the K-ras gene, HPV infection and tobacco or alcohol abuse, can be considered independently or in combination as high risk factors for esophageal squamous cell carcinoma development." + pmids: + - "18592405" + - text: Overexpression and mutations of Kras lead to common altered gene expression patterns in NIH3T3 cell. + pmids: + - "19190631" + - text: miR-143 is significant in suppressing colorectal cancer cell growth through inhibition of KRAS translation. + pmids: + - "19137007" + - text: "Evidence from several randomized studies has established that advanced colorectal tumors harboring a mutation in the KRAS gene do not respond to epidermal growth factor receptor-directed monoclonal antibodies, such as cetuximab or panitumumab." + pmids: + - "19124802" + - text: Allelic loss on 12p12-13 region would influence the KRAS2 expression by reducing the gene-dosage in colon carcinogenesis. + pmids: + - "16331576" + - text: KRAS mutations and PI3KCA/PTEN deregulation significantly correlate with resistance to cetuximab. + pmids: + - "18669866" + - text: KRAS2 mutations in human pancreatic acinar-ductal metaplastic lesions are limited to those with pancreatic intraepithelial neoplasia. + pmids: + - "19208745" + - text: KRAS mutations were associated with lower response rate to cetuximab plus irinotecan in colorectal cancer patients(4% v 27% in nonmutated patients; P = .021) and shorter PFS (3.0 v 5.3 months; P = .021). + pmids: + - "19164213" + - text: genetic alterations of KRAS and PIK3CA may play equivalent roles in endometrial carcinogenesis + pmids: + - "18221484" + - text: "The digital melt curve assay detected 16 (59%) of 27 advanced adenoma samples that contained KRAS mutations, compared with 7% with the Hemoccult, 15% with the HemoccultSensa, and 26% with the PreGenPlus assays." + pmids: + - "19026650" + - text: oncogenic KRAS could cause the accumulation of phosphatidylinositides and modulate the cell shape and migration. + pmids: + - "19121089" + - text: "p53 mutation is an initiating mutation in the majority of colitis-associated neoplasia, and K-RAS activation is an alternative gatekeeping mutation." + pmids: + - "19103203" + - text: KRAS mutations or TP53 mutations are associated with lung adenocarcinoma. + pmids: + - "19096302" + - text: "KRAS, and CMET mutations are associated with advanced non-small cell lung cancer." + pmids: + - "19096301" + - text: Hereditary pancreatitis patients with PRSS1 mutations also had mutations in BRAF and KRAS2. + pmids: + - "18946221" + - text: KRAS mutations in either primary or metastatic tumors from patients with colorectal cancer is concordant. + pmids: + - "19056857" + - text: Mutations in the KRAS are associated with Noonan syndrome. + pmids: + - "19020799" + - text: "Observational study of gene-disease association, gene-gene interaction, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "19367287" + - "19164213" + - text: may be involved with imatinib resistance in chronic myeloid leukemia + pmids: + - "18509354" + - text: The prevalence of mutant KRAS2 is similar in familial pancreatic adenocarcinoma as in sporadic pancreatic adenocarcinomas. + pmids: + - "19064568" + - text: Report genetic alterations of K-ras in Korean colorectal cancer patients. + pmids: + - "17704924" + - text: ovarian cancer patients with KRAS or BRAF mutations may benefit from CI-1040 treatment + pmids: + - "19018267" + - text: the presence of mutations in the KRAS oncogene can be used to predict which patients are unlikely to benefit from treatment with epidermal growth factor receptor-directed therapy. + pmids: + - "19013894" + - text: Smoking and diabetes were associated with pancreatic cancer patients positive for K-ras codon 12 mutations + pmids: + - "18049799" + - text: "Before panitumumad administration KRAS oncogene must be analysed to determine \"continuous activation\" or wild type gene is involved." + pmids: + - "18431556" + - text: "All of the KRAS-mutant Microsatellite instability (MSI)-H (high) tumors harbored sequence alterations MLH1, which implies that KRAS mutation more frequently and almost exclusively occurs in DNA mismatch repair gene-mutant MSI-H tumors." + pmids: + - "18692554" + - text: The incidence of K-ras mutation may be associated with the hypersecretion of mucin in IPMN patients. + pmids: + - "18392710" + - text: Kras may uniquely contribute to the initiation of tumors in endodermally-derived tissues by expanding a stem/progenitor cell population + pmids: + - "18418066" + - text: KRAS mutation is related with a random CpG island methylation pattern which may lead to CpG island methylator phenotype in colorectal cancer . + pmids: + - "19002263" + - text: "Patients with a colorectal tumor bearing mutated K-ras did not benefit from cetuximab, whereas patients with a tumor bearing wild-type K-ras did benefit from cetuximab." + pmids: + - "18946061" + - text: The LCS6 variant allele in a KRAS miRANA complementary site is significantly associated with increased risk for NSCLC among moderate smokers. + pmids: + - "18922928" + - text: "With at least 3 markers methylated, new CIMP-positive colorectal cancers were closely associated with proximal tumor location, low frequency of KRAS mutation, and high frequency of BRAF mutation." + pmids: + - "18834226" + - text: All K-ras positive patients revealed a poor survival prognosis and had a tumor relapse after resection. + pmids: + - "18833187" + - text: K-RasG12D-induced T-cell lymphoblastic lymphoma/leukemias harbor Notch1 mutations + pmids: + - "18663146" + - text: "BRAF, KRAS and PIK3CA mutations occur prior to malignant transformation demonstrating that these oncogenic alterations are primary genetic events in colorectal carcinogenesis" + pmids: + - "18782444" + - text: Observational study of genetic testing. (HuGE Navigator) + pmids: + - "20848649" + - "20712532" + - "20703476" + - "20696815" + - "20683036" + - "20398393" + - "20098682" + - "19815694" + - "19640859" + - "19309232" + - "19026650" + - "18832461" + - text: Bayesian network analysis of these and other datasets revealed that PTRF might be a potentially important component of the ERBB signaling network + pmids: + - "18776048" + - text: Mutation in KRAS is associated with childhood acute lymphoblastic leukemia + pmids: + - "18701506" + - text: "Meta-analysis of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "20978259" + - "20580219" + - "20309588" + - "20022659" + - "18804418" + - text: "Observational study of gene-disease association, gene-environment interaction, pharmacogenomic / toxicogenomic, and genetic testing. (HuGE Navigator)" + pmids: + - "18794099" + - text: KRAS and BRAF mutations can impair response to anti-EGFR therapy for colorectal neoplasms + pmids: + - "18757341" + - text: RAS signaling network is extensively dysregulated in colorectal carcinomas. + pmids: + - "18592002" + - text: both Kras and integrin alpha1beta1 cooperate to drive the growth of non-small cell lung cancer in vivo + pmids: + - "18676835" + - text: A variety of molecular assays have been devised to detect mutated KRAS in pancreatic cancer. + pmids: + - "18614859" + - text: Data show that germ cell single base substitution mutation frequencies are very similar to somatic tissue Kirsten-RAS mutation frequencies. + pmids: + - "18418864" + - text: "Quantification of mutant KRAS2 in pancreatic juice differentiates pancreatic adenocarcinoma from chronic pancreatitis, and may be a useful early detection tool for pancreatic cancer." + pmids: + - "18075308" + - text: This is the first report in colorectal carcinoma of humans of internal tandem duplication longer than 1 codon in th KRAS gene and first insertion detected in exon 2. + pmids: + - "18669174" + - text: analysis of a signaling mechanism for the regulation of the Ras/ERK pathway based on the eNOS-dependent differential activation of N-Ras and K-Ras at specific cell compartments + pmids: + - "18641128" + - text: Increased frequency of K-ras mutations are associated with colorectal oncogenesis + pmids: + - "18559541" + - text: KRAS mutations are associated with cetuximab failure in EGFR FISH+ colorectal cancer. + pmids: + - "18577988" + - text: KRAS polymorphisms were indicated to be involved in risk for the development of atypical adenomatous hyperplasia that progresses to lung adenocarcinoma. + pmids: + - "18299280" + - text: "The G-rich strand of a nuclease hypersensitive element, located in the human KRAS promoter, can fold into a dynamic intra-molecular G-quadruplex that can assume two distinct conformations." + pmids: + - "18490377" + - text: CpG island methylator phenotype in colorectal neoplasms may result from activating mutations in either BRAF or KRAS. + pmids: + - "18435933" + - text: Provide a unique view of the tumor-initiating effects of oncogenic KRAS in a zebrafish model of pancreatic cancer. + pmids: + - "18549880" + - text: "K-ras mutation has been detected in the tumor tissue of 25 patients (33%). K-ras mutation hasn't been detected in the blood. tumors with K-ras mutation have a worse prognosis and often lead to disemination" + pmids: + - "18432074" + - text: "KRAS mutation may occur at a very low frequency in Chinese NSCLC patients regardless of pathology, smoking status, or gender." + pmids: + - "18418018" + - text: K-ras mutations have a limited role in development of sinonasal cancer + pmids: + - "18289366" + - text: first direct comparison of survival of resected patients with either EGFR or KRAS mutant lung adenocarcinomas compared with those wild type for both genes; EGFR & KRAS mutations define distinct molecular subsets of resected lung adenocarcinoma + pmids: + - "18303429" + - text: "high frequency of mutations in the PIK3CA, HRAS and KRAS genes leads us to believe that dysregulation of the phosphatidylinositol 3-kinase or Ras pathway is significant for the development and progression of penile carcinoma." + pmids: + - "18355852" + - text: KRAS status should be considered in selecting patients with mCRC as candidates for panitumumab monotherapy + pmids: + - "18316791" + - text: "while activated HrasV12 promotes differentiation and growth arrest in these endodermal progenitors, KrasV12 promotes their proliferation" + pmids: + - "18268007" + - text: Mutations in the K-ras is associated with colon cancers + pmids: + - "18224685" + - text: "In patients with lung adenocarcinoma, mutation analyses of EGFR and KRAS show whether or not to apply treatments targeting against EGFR and the selection of dosage for such treatments." + pmids: + - "18334834" + - text: Observational study of gene-disease association and gene-gene interaction. (HuGE Navigator) + pmids: + - "20819778" + - "20736745" + - "20676756" + - "20565773" + - "20162668" + - "19853286" + - "19765726" + - "19237633" + - "18224685" + - text: Observational study of gene-disease association and pharmacogenomic / toxicogenomic. (HuGE Navigator) + pmids: + - "18202412" + - text: "A worse clinical outcome was found for CIMP-high, microsatellite stable colorectal cancer with KRAS/BRAF mutation but not for those lacking KRAS/BRAF mutation." + pmids: + - "18199160" + - text: 54% of childhood CBF-AML had RTKs and/or Ras mutations + pmids: + - "17960171" + - text: "Data suggest that the intrinsic k-Ras/Ras GTPase activity, the responsiveness of these proteins to GTPase-activating proteins, and guanine nucleotide dissociation all regulate developmental programs in vivo." + pmids: + - "17875937" + - text: "KRAS2 c.34G > T somatic prescreening, followed by MUTYH hotspot mutation analysis when positive, can identify patients with (atypical) MUTYH-associated polyposis" + pmids: + - "18172263" + - text: results confirm the high prognostic value of KRAS mutations on response to cetuximab and survival in metastatic colorectal cancer patients treated with cetuximab + pmids: + - "18202412" + - text: The data support that the frequencies and patterns of somatic mutation of the K-ras gene in colorectal cancer are variable among populations. + pmids: + - "18265644" + - text: "All cases were wild-type for HER2. Mutations of EGFR and K-ras genes represent an early event in lung adenocarcinomagenesis, and AAH convincingly seems to be a precursor lesion in a subset of cases of adenocarcinoma." + pmids: + - "18208799" + - text: KRAS WT status is associated to survival benefit in cetuximab treated metastatic colorectal cancer. + pmids: + - "17998284" + - text: "Observational study of genotype prevalence, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "17285540" + - text: Observational study of genotype prevalence and gene-disease association. (HuGE Navigator) + pmids: + - "16456810" + - text: "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "20972872" + - "20939111" + - "20884623" + - "20842128" + - "20686428" + - "20631636" + - "20630828" + - "20619739" + - "20413299" + - "20234366" + - "20186026" + - "20159991" + - "20145159" + - "20100964" + - "20100958" + - "20056178" + - "20035238" + - "20010090" + - "19952717" + - "19921572" + - "19884556" + - "19884551" + - "19862647" + - "19854533" + - "19738388" + - "19738126" + - "19667264" + - "19629485" + - "19603024" + - "19603018" + - "19596959" + - "19473722" + - "19398573" + - "19366826" + - "19339720" + - "19289622" + - "19289583" + - "19284554" + - "19281127" + - "19247083" + - "19196673" + - "19144677" + - "19057271" + - "19018267" + - "19001320" + - "18946061" + - "18932251" + - "18676755" + - "18669866" + - "18626007" + - "18621636" + - "18544172" + - "18500270" + - "17192902" + - "17060486" + - "16139926" + - text: Clinical trial of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) + pmids: + - "16043828" + - text: Observational study of gene-environment interaction and pharmacogenomic / toxicogenomic. (HuGE Navigator) + pmids: + - "16618717" + - "14688017" + - text: Observational study of gene-environment interaction. (HuGE Navigator) + pmids: + - "15958551" + - "14520703" + - text: Observational study of genotype prevalence. (HuGE Navigator) + pmids: + - "18289366" + - "18265644" + - "18172263" + - "17943694" + - "17904685" + - "16765042" + - "16533526" + - "16397024" + - "16142319" + - text: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) + pmids: + - "21048031" + - "20845292" + - "20350743" + - "19362747" + - "19358278" + - "19351817" + - "19326463" + - "19170196" + - "18922928" + - "18843035" + - "18794081" + - "17632319" + - "17568059" + - "17409930" + - "16905440" + - "16818665" + - "15824172" + - text: Observational study of gene-disease association. (HuGE Navigator) + pmids: + - "21080251" + - "21074889" + - "21072204" + - "21055216" + - "21051183" + - "20979647" + - "20955384" + - "20947270" + - "20937558" + - "20935157" + - "20881644" + - "20880116" + - "20860430" + - "20824720" + - "20813562" + - "20802181" + - "20734064" + - "20688547" + - "20682398" + - "20681447" + - "20678218" + - "20661086" + - "20652941" + - "20647319" + - "20646601" + - "20645028" + - "20628283" + - "20591910" + - "20583607" + - "20578946" + - "20571907" + - "20563851" + - "20559151" + - "20559149" + - "20542658" + - "20526288" + - "20501503" + - "20495538" + - "20459770" + - "20453000" + - "20444249" + - "20432164" + - "20385028" + - "20383576" + - "20381121" + - "20372787" + - "20361930" + - "20336783" + - "20305537" + - "20303012" + - "20302979" + - "20184776" + - "20183914" + - "20177422" + - "20150826" + - "20150643" + - "20118768" + - "20087229" + - "20086114" + - "20049644" + - "20020061" + - "20018398" + - "20008640" + - "19995707" + - "19960433" + - "19936766" + - "19935791" + - "19913317" + - "19908233" + - "19903786" + - "19865112" + - "19855375" + - "19854534" + - "19839777" + - "19826477" + - "19813061" + - "19740513" + - "19734844" + - "19727962" + - "19724844" + - "19723643" + - "19704056" + - "19692168" + - "19686742" + - "19679400" + - "19672874" + - "19639197" + - "19628078" + - "19625176" + - "19584155" + - "19584075" + - "19571295" + - "19561230" + - "19551857" + - "19543899" + - "19533561" + - "19527492" + - "19515263" + - "19487299" + - "19430562" + - "19420344" + - "19419940" + - "19418727" + - "19380522" + - "19369630" + - "19360305" + - "19358724" + - "19303097" + - "19302287" + - "19295453" + - "19273710" + - "19270482" + - "19240718" + - "19238633" + - "19234440" + - "19228630" + - "19206169" + - "19190129" + - "19179548" + - "19142971" + - "19141999" + - "19133693" + - "19107910" + - "19096302" + - "19096301" + - "19064568" + - "19047918" + - "19047118" + - "19020799" + - "19013464" + - "18957720" + - "18794094" + - "18782444" + - "18677542" + - "18676680" + - "18594528" + - "18592405" + - "18418018" + - "18383861" + - "18299280" + - "17910045" + - "17629419" + - "17504988" + - "17487277" + - "17471559" + - "17393356" + - "17354229" + - "17321325" + - "17270239" + - "16973828" + - "16808798" + - "16356174" + - "16144912" + - "16110022" + - "16077965" + - "16015387" + - "15994075" + - "15991278" + - "15531466" + - "15523694" + - "11016621" + - text: De novo germline HRAS (G12A) and KRAS (F156L) mutations in two siblings with short stature and neuro-cardio-facio-cutaneous features. + pmids: + - "17601930" + - text: "study of point mutations in RAS oncogenes in papillary thyroid carcinoma; 2 mutations found (GAA/CAA at codon 31 of K-RAS & CAA/CAC at codon 61 of N-RAS); data confirm previous studies, showing RAS mutations are more rare in PTC than follicular neoplasms" + pmids: + - "17943694" + - text: In 50 of the 66 primitive colorectal tumor cases at least one significant alteration was identified in Ki-Ras and/or TP53 and/or p16(INK4A) genes. + pmids: + - "16760301" + - text: Frequently mutated in high hyperdiploid childhood acute lymphoblastic leukemia. + pmids: + - "17910045" + - text: "2 novel mutations (K5E, G12S) were identified in 7 patients withcardio-facio-cutaneous syndrome, Costello syndrome or Noonan syndrome." + pmids: + - "17704260" + - text: The K-RAS gene was screened for mutations in Congenital cystic airway malformation/congenital pulmonary airway malformation...no mutations were present + pmids: + - "17714760" + - text: Specific TP53 mutations in L3 domain alone (only in DFS) or in combination with specific Ki-ras mutations at codon 13 are associated with a worse prognosis in sporadic colorectal cancer. + pmids: + - "15923430" + - text: "The results obtained from the RASCAL studies suggest that Ki-ras mutations might have an effect on survival rate of colorectal cancer patients, and that the specific codon 12 glycine/valine mutation might play a role in the progression of this neoplasia." + pmids: + - "15923428" + - text: Simultaneous measurement of K-ras and p16 mutations provides an additional tool in differential diagnosis of chronic pancreatitis and pancreatic adenocarcinoma. + pmids: + - "15608367" + - text: oncogenic K-RAS/ERK in pancreatic adenocarcinoma facilitates TGFbeta-induced transcriptional down-regulation of the tumor suppressor PTEN in a SMAD4-independent manner + pmids: + - "17638924" + - text: "The regulation of p21WAF1/CIP1, independent of p53 or bcl-2 expression, appears to be associated with Kras mutations." + pmids: + - "17873613" + - text: "tumor budding and podia formation were observed to be significantly higher in the 32 (34.7%) of colorectal tumors with K-ras gene mutations (29 mutations in codon 12, 3 in codon 13)" + pmids: + - "17707462" + - text: study reveals there are differences in the frequencies & types of K-ras & p53 mutations found in pancreatic adenocarcinomas of patients in high-pollution & low-pollution regions in Egypt & suggests that environmental factors may explain these differences + pmids: + - "17575320" + - text: k-ras codon 12 mutation is associated with non-small cell lung carcinoma + pmids: + - "18038880" + - text: data support the notion that K-ras-dependent inhibition of anoikis plays an important casual role in colorectal carcinoma progression + pmids: + - "17710156" + - text: Kras mutant lung cancer patients have a significantly worse prognosis than wild-type patients. + pmids: + - "17671710" + - text: "In conclusion, the data support a model whereby RbAp48 regulates cellular morphology and cytoskeletal organization by increasing K-Ras activity and signaling through MAPK." + pmids: + - "17974974" + - text: KRAS is rarely mutated in pilocytic astrocytomas. + pmids: + - "17712732" + - text: c-kit expression is not alternative to BRAF and/or KRAS activation. + pmids: + - "17487504" + - text: "KLF6 and p53 mutations are involved in the development of nonpolypoid colorectal carcinoma, whereas K-ras and B-raf mutations are not" + pmids: + - "17663506" + - text: "KRAS G34A mutation was relatively common to all classes of specimen, whereas TP53 gene C742T and G818C mutations were significantly more frequent in lichen sclerosus than normal genital skin." + pmids: + - "17554370" + - text: "study of EGFR, HER2, TP53& KRAS mutations of p14arf expression of non-small cell lung cancers in relation to smoking" + pmids: + - "17575133" + - text: "tobacco does not play a major part in acquisition of K-ras mutations in the pancreatic epithelium; although both smoking & K-ras mutations have important roles in the etiopathogenesis of exocrine pancreatic cancer, the 2 processes may act independently" + pmids: + - "17632319" + - text: Mutations in KRAS is associated with colon tumors + pmids: + - "17636402" + - text: "Wild type K-ras2 is related to the negative regulation of cell proliferation, metabolism and transcriptional control in colon carcinoma cells." + pmids: + - "17729418" + - text: an important relationship between K-ras codon 12 mutations and overall survival in colorectal cancer patients + pmids: + - "17629419" + - text: Circulating KRAS mutations originate from tumors and are prognostically relevant in lung cancer. + pmids: + - "17449174" + - text: "NSCLC cases with wt- or mutant KRAS, downregulation of EGFR expression was a rare event although upregulation in bone metastases was observed more frequently in wt K-RAS cases." + pmids: + - "17607370" + - text: RASSF1A methylation was observed in a high frequency in endometrioid endometrial carcinoma whereas K-ras and B-raf mutations were observed in a low frequency + pmids: + - "17170014" + - text: data suggest that mutations of the k-ras oncogene may induce activation of ERK1/2 in colorectal carcinoma + pmids: + - "17149612" + - text: Combined with screening of K-ras mutations and allelic losses of tumor suppressors p16 and DPC4 represents a very sensitive approach in screening for pancreatic malignancy. + pmids: + - "17659731" + - text: experiments provide a rationale for targeting Ras and associated signaling pathways in mesothelioma and also suggest cap-dependent translation as one mechanism by which Ras induces proliferation in this disease. + pmids: + - "17805054" + - text: The majority of colorectal and gastric cancer cells with KRAS mutations are homogeneous because they have the same KRAS mutation. + pmids: + - "17697521" + - text: KRAS KRAS mutations were observed significantly frequently in bronchial-type tumors + pmids: + - "17459062" + - text: "it is suggested that atypical adenomatous hyperplasia (AAH) could develop by either KRAS or EGFR gene mutation, but AAH harbouring a KRAS gene mutation might not progress further to an invasive cancer" + pmids: + - "17534846" + - text: In bronchioalveolar carcinoma/adenocarcinoma with bronchioalveolar features mucinous differentiation was significantly correlated with the absence of EGFR mutation and presence of KRAS mutation. + pmids: + - "17591931" + - text: "patients having juvenile myelomonocytic leukemia with NRAS or KRAS2 glycine to serine substitution received no chemotherapy, but hematologic improvement was observed during a 2- to 4-year follow up." + pmids: + - "17332249" + - text: "In 2 cases of ovarian tumors the same mutations of KRAS occurred in both the atypical proliferative serous (borderline) tumor and the high-grade serous carcinoma component of the tumor, indicating a clonal relationship." + pmids: + - "17592266" + - text: "Genetically, the non-polypoid growth type of submucosal invasive colorectal carcinoma shows much less frequent K-ras mutation." + pmids: + - "17465446" + - text: "Review: Exploring environmental causes of altered ras effects: fragmentation plus integration?" + pmids: + - "12557259" + - text: signaling initiated by activated Ki-ras interferes with the IFN/STAT signaling pathway and modulates the responsiveness of cancer cells to interferons + pmids: + - "12972432" + - text: Sensitivity of PNA clamp PCR assay in identifying occult micrometastases in the sentinal lymph nodes of colorectal cancer patients by single-base mutation analysis. + pmids: + - "15221969" + - text: Ras mutations do not play a significant role in the pathogenesis of multiple myeloma in the Spanish population + pmids: + - "16142319" + - text: The wild-type Kras2 gene effectively inhibits the growth of the colonic adenocarcinoma cell line Caco-2. + pmids: + - "17352027" + - text: Rna silencing of K-ras(V12) markedly decreased K-ras(V12) gene expression and inhibited cellular proliferation of lung cancer cells. + pmids: + - "17172815" + - text: "High-resolution melting analysiswill enable screening of gene mutations, such as KRAS to allow appropriate therapeutic choices for patients and accelerate research aimed at identifying novel mutations in human cancer." + pmids: + - "17184525" + - text: This pilot study suggests that low-level fractional allelic loss or K-ras mutation in the negative/atypical cytology samples of bile duct with malignant outcome is a representation of morphologically subtle molecular alterations. + pmids: + - "17227126" + - text: BRAF mutations are as uncommon as KRAS mutations in prostate adenocarcinoma + pmids: + - "16721785" + - text: 6 haplotype blocks were identified across the KRAS locus in endometriosis patients. No germline variants or differences in SNPs or haplotypes were seen between cases and controls. + pmids: + - "16973828" + - text: "c-Myc antagonized the induction of p21Cip1 mediated by oncogenic H-, K-, and N-Ras and by constitutively activated Raf and ERK2" + pmids: + - "15528212" + - text: results suggest that carcinogenesis in the biliary tract epithelium in anomalous pancreaticobiliary ductal union (APBDU) is accompanied by multistep genetic mutational events; K-ras gene mutation occurs early in epithelial hyperplasia or metaplasia + pmids: + - "12720172" + - text: mechanistic insights are now possible into how K-Ras contributes to pancreatic ductal carcinogenesis (review) + pmids: + - "16169155" + - text: Rodent and human tumor cells containing constitutively activated Raf/Raf/MEK/ERK pathways were resistant to mda-5-induced killing. + pmids: + - "16575407" + - text: These studies identify isoprenylcysteine carboxyl methyltransferase as a potential target for reducing the growth of K-Ras- and B-Raf-induced malignancies. + pmids: + - "14966563" + - text: "results demonstrate that the mutational status of BRAF and KRAS is distinctly different among histologic types of ovarian serous carcinoma, occurring most frequently in invasive micropapillary serous carcinomas and its precursors, serous borderline tumors" + pmids: + - "12644542" + - text: "In 239 Thai adult AML cases, 35 RAS mutations were found in 32 cases (13%) predominantly classified as M1/M2 (53%) followed by M4/M5 (38%). Ten cases were positive for NRAS codon 12, 11 for NRAS codon 61, 13 for NRAS codon 13, and one for KRAS codon 13." + pmids: + - "16573741" + - text: K-Ras promotes growth transformation and invasion of immortalized human pancreatic cells by Raf and phosphatidylinositol 3-kinase signaling. + pmids: + - "17332339" + - text: Mutations of BRAF or KRAS oncogenes are early events in the serrated polyp neoplasia pathway. CpG island methylation plays a role in serrated polyp progression to colorectal carcinoma. + pmids: + - "15489648" + - text: "data suggest that mutations of epidermal growth factor receptor (EGFR) and K-RAS genes might separately, but not cooperatively, contribute to lung adenocarcinoma pathogenesis" + pmids: + - "15815931" + - text: Mutations in transfect Ki-ras promote the formation of benign lung tumors and suggest potential targets for the development of novel chemotherapeutic and chemopreventive agents during the early stages of lung tumor progression. + pmids: + - "16482519" + - text: "Mutations of K-ras and Dpc4 genes can accumulate already in non-malignant, inflammatory pancreatic tissue, suggesting its applicability in monitoring of further destruction of pancreatic tissue and progression into malignancy." + pmids: + - "17436386" + - text: EGFR and K-ras mutations may have a role in progression of resected non-small-cell lung cancer + pmids: + - "17596643" + - text: "mutational analysis of KRAS, BRAF, and MAP2K1/2 in 56 patients with CFC syndrome; comparison of the genotype-phenotype correlation of CFC with that of Costello syndrome suggest a significant clinical overlap but not genotype overlap." + pmids: + - "17366577" + - text: "Mutant-type [(12)Asp]K-ras4B can enhance the expression of estrogen receptor alpha and beta proteins and their transcriptional activity as a transcription factor in endometrial carcinoma HEC-1A cell line." + pmids: + - "14989985" + - text: "p21Ras, hSOS1, and p120GAP are not involved in polycystic ovary disease" + pmids: + - "15010862" + - text: ANCA selectively activates K-ras during induction of a respiratory burst via pathways involving multiple upstream kinases. + pmids: + - "15548565" + - text: Detection of K-ras mutations in normal colonic mucosa might serve as a high-specificity approach to colorectal cancer. + pmids: + - "15514939" + - text: k-ras has a role in cell death through the p38 MAP kinase pathway in human colonic cancer cells + pmids: + - "15037631" + - text: Coordinated traffic of Grb2 and Ras during epidermal growth factor receptor endocytosis + pmids: + - "12006650" + - text: "p21Ras activation is instrumental in FVIIa signal transduction and the FVIIa-dependent activation of p21Ras involves either PKC or Src-dependent mechanisms, depending on the cell type investigated." + pmids: + - "12871370" + - text: K-ras mutations occur prominently in type 1 and type 2 gastric cancers. + pmids: + - "15734482" + - text: there is an inverse relationship between Kras2 activation and RASSF1A promoter methylation in the majority of human lung adenocarcinomas and large cell carcinomas + pmids: + - "14511407" + - text: LOH of chromosome 12p was seen in about 50% of human lung adenocarcinomas & large cell carcinomas. Kras2 mutations were seen at codon 12 in about 40% of adenocarcinomas & large cell carcinomas. The wild-type Kras2 is a tumor suppressor of lung cancer. + pmids: + - "12606951" + - text: Mutations in K-ras gene is associated with malignant melanomas + pmids: + - "14961576" + - text: K-Ras mutations were found in 80% of pancreatic adenocarcinoma cell lines and 100% of primary tumors. They were all missense mutations of Gly(12) to Val or Asp. + pmids: + - "15367885" + - text: KRAS2 mutations were seen in stomach neoplasms. + pmids: + - "14534542" + - text: "While most aberrant crypt foci do not have adenopolyposis coli mutations, a large proportion has KRAS mutations. (review)" + pmids: + - "16219426" + - text: Immunohistochemical staining of p21 appears to be of prognostic value in patients receiving systemic adjuvant chemotherapy for locally advanced bladder cancer. + pmids: + - "12372883" + - text: k-Ras has a role in promoting butyrate-induced apoptosis by inhibiting gelsolin expression + pmids: + - "15213223" + - text: K-ras mutations and RASSF1A promoter methylation in colorectal cancer + pmids: + - "12032847" + - text: Oncogene Protein p21(ras) accumulation was confined to the upper layer of esophageal squamous cell carcinoma. + pmids: + - "14654903" + - text: Clinical evidence that suggests a role for K-Ras in the formation of colorectal metastases. (review) + pmids: + - "16098678" + - text: study performed to determine the status of K-ras-2 in liver angiosarcomas (LAS) from workers occupationally exposed to vinyl chloride + pmids: + - "12211074" + - text: hepatocyte growth factor signaling and Ki-ras oncogene activation have roles in colorectal cancer + pmids: + - "16158056" + - text: Mutations do not confer a growth advantage to somatic heterozygous clusters or maintenance turnover units. + pmids: + - "16458330" + - text: "K-ras mutations were detected in 70% of neoplastic tissue samples, but no mutated DNA resulted in circulating DNA samples in pancreatic cancers." + pmids: + - "16552337" + - text: trichostatin A-induced cell death of Ki-Ras-transformed cells is enhanced by inhibition of NF-kappaB + pmids: + - "16774937" + - text: These data describe a functional association between K-Ras4B and nucleolin + pmids: + - "16889753" + - text: association between K-ras mutation and smoking in pancreatic cancer patients + pmids: + - "17198183" + - text: KRAS mutations were present in 3 of 16 serrated compared with 14 of 33 non-serrated hyperplastic aberrant crypt foci + pmids: + - "17440063" + - text: Mutations were detected by using allele-specific amplification method. + pmids: + - "11524732" + - text: "BRAF mutations, which are present in a variety of other human cancers, do not seem to be involved in gastric cancer development" + pmids: + - "14513361" + - text: types of mutations in sinonasal NK/T cell lymphoma in northeast district of China + pmids: + - "12824925" + - text: Constitutive activation of NF-kappaB in Ki-ras-transformed prostate epithelial cells + pmids: + - "12085227" + - text: findings indicate the wild-type KRAS allele is occasionally lost in lung cancer and the oncogenic activation of mutant KRAS is more frequently associated with overexpression of the mutant allele than with loss of the wild-type allele in NSCLC development + pmids: + - "14601056" + - text: The results suggest that oncogenic K-Ras enhances the malignant phenotype and identify the mitogen-activated protein kinase p38 as a target to inhibit oncogenic K-Ras-induced pancreatic tumor cell migration. + pmids: + - "16257181" + - text: Mutation and elevated expression of KRAS2 is associated with the development of testicular germ cell tumors + pmids: + - "16354586" + - text: A nuclease hypersensitive polypurine-A polypyrimidine element within the promoter of the KRAS proto-oncogene regulates transcription. + pmids: + - "16687659" + - text: "ras may be involved in early stages of larynx carcinogenesis and may be activated by other mechanisms different from mutations, such as epigenetic events" + pmids: + - "16761621" + - text: Ki-ras proto-oncogene mutation and p53 gene overexpression is associated with sporadic colorectal adenomas + pmids: + - "16896030" + - text: Urine might be a better resource for detecting K-ras mutation in circulating DNA in patients with colorectal cancer. + pmids: + - "17192038" + - text: One female patient exhibiting the distal phalangeal creases had a mutation in the KRAS gene. + pmids: + - "17324647" + - text: findings show that RASSF1A hypermethylation and KRAS mutations and BRAF mutations are inversely correlated and play an important role in the development of cervical adenocarcinomas + pmids: + - "17360030" + - text: Activated K-ras is associated with non-small cell lung cancer + pmids: + - "17549340" + - text: Ras modulates the proliferative response of RSF to TNF-alpha and TGF-alpha + pmids: + - "11822784" + - text: "Mutations in APC, Kirsten-ras, and p53--alternative genetic pathways to colorectal cancer. The most common combination of mutations was p53 and APC (27.1%), whereas mutations in both p53 and K-ras were extremely rare." + pmids: + - "12093899" + - text: K-ras mutations may have an effect on proliferation in pancreatic ductal adenocarcinoma + pmids: + - "14508142" + - text: K-ras mutation may play a role in the malignant transformation of pancreatic ductal cell. + pmids: + - "15040037" + - text: "Mutant human Kras(D12) suppresses IL-18 production in murine colorectal tumor cells, which may contribute to evasion of the local immune system during tumor development" + pmids: + - "16091732" + - text: "MUC5AC and MUC2, TFF1 and TFF3, APC and p21 in subsets of colorectal polyps and cancers suggests a distinct pathway of pathogenesis of mucinous carcinoma of the colorectum" + pmids: + - "16142311" + - text: "The positive expression rates of p21 and p53 proteins were 75.0% and 57.3% respectively in pancreatic carcinoma, which were significantly different from those in the normal tissue (P<0.05). p21 and p53 proteins were positively correlated (P<0.05)." + pmids: + - "14612290" + - text: Uncommon mutation types of K-ras may contribute to long term patient survival in pancreatic adenocarcinoma. + pmids: + - "12135058" + - text: "Co-mutation of p53 and K-ras gene has neither synergic carcinogenesis-promoting effect, nor prognostic effect on rectal cancer." + pmids: + - "15534934" + - text: Activating KRAS2 mutations were found in 82% of lethal metastatic pancreatic neoplasms. + pmids: + - "15846069" + - text: "H-Ras mediates FucT-VII induction in Jurkat T cells via the activation of the Raf, PI3K, and a distinct, H-Ras-specific effector signaling pathway." + pmids: + - "15262995" + - text: These findings suggest that endogenous Nore1B recruits active Ras to the APC-T cell interface and mediates the interaction between Ras and Carma1. + pmids: + - "16520020" + - text: The role of K-ras codon 12 and codon 13 mutations in human papillomavirus virus-associated colon tumors. + pmids: + - "16672071" + - text: "KRAS and p53 gene mutations, which are rarely simultaneous and are associated with specific DI aneuploid values, do not represent a synergistic evolutionary pathway but may influence mechanisms of chromosomal instability." + pmids: + - "16988471" + - text: Recurrent KRAS codon 146 mutations is associated with human colorectal cancer + pmids: + - "16969076" + - text: These findings suggest that continuous K-Ras activation accelerates cell growth and evokes a feedback system through IGFBP-4/2 to prevent excessive growth. + pmids: + - "17071580" + - text: "K-RAS is uniquely oncogenic in the colonic epithelium, though the molecular aspects of its oncogenic contribution are not necessarily conserved across cell lines." + pmids: + - "17133351" + - text: "Taken together, the observations indicate that both H-Ras(G12V) and K-Ras4B(G12V) activates non-conventional and perhaps unique effector pathways to induce cytoplasmic vacuolation in glioblastoma cells." + pmids: + - "17210246" + - text: "among adenocarcinomas, nonmucinous and mucinous bronchioloalveolar carcinoma components were significantly associated with EGFR and K-ras gene mutations, respectively" + pmids: + - "17580276" + - text: KRAS2 mutations have been detected in laser-capture microdissected atypical endometrial hyperplasia specimens arising concurrently with endometrial carcinoma. + pmids: + - "11746970" + - text: "RAS or BRAF mutations are detected in about 32% of all Barrett's adenocarcinomas; the disruption of the Raf/MEK/ERK (MAPK) kinase pathway is a frequent but also early event in the development of Barrett's adenocarcinoma" + pmids: + - "14724583" + - text: codon 12 K-ras mutations in lung tumors or sputum samples from 102 lung cancer patients + pmids: + - "12826308" + - text: Point mutations in Ki-ras gene is associated with colorectal cancers in mexican patients + pmids: + - "12908779" + - text: mutations in K-ras have been detected in primary carcinoma of small intestine + pmids: + - "11836595" + - text: Ki-ras mutations and HGF signaling cooperate to enhance tumor growth by increased duration of MAPK activation and decreased apoptosis in human carcinoma cells. + pmids: + - "12651912" + - text: Mutations in either the EGFR TK domain or the KRAS gene can lead to lung cancer pathogenesis. EGFR TK domain mutations are the first molecular change known to occur specifically in never smokers. + pmids: + - "15741570" + - text: The sequential accumulation of mutations in K-ras drives the transition from normal epithelium through increasing adenomatous dysplasia to colorectal cancer. + pmids: + - "15943410" + - text: KRAS mutation occurred frequently (26.5%) in adenomas and particularly in adenomas with villous architecture. + pmids: + - "16879389" + - text: "analysis of H-RAS, K-RAS and N-RAS expression in acute myeloid leukemia" + pmids: + - "16923573" + - text: K-ras mutations are associated with colorectal cancers + pmids: + - "16918136" + - text: "Phenotypic variability may be related, at least in part, to specific genotypes and possibly reflects the central role of K-Ras in a number of different signalling pathways." + pmids: + - "17056636" + - text: Presence of an oncogenic KRAS allele results in a dynamic physical interaction between endogenous N-RAS and gelsolin that correlates with survival in colorectal cancer cell lines. + pmids: + - "17130841" + - text: data suggest that BRAF mutations might be present less frequently than KRAS mutations in Greek patients with colorectal carcinomas + pmids: + - "17393356" + - text: The results suggest a potential role for Ca2+/calmodulin in the regulation of K-RasB function. + pmids: + - "12727204" + - text: comparison with mouse data show a pattern of gene expression indicative of KRAS2 mutation and oncogenic activity + pmids: + - "15608639" + - text: controversial link of KRAS mutations in colorectal cancer with chromosomal instability and patient prognosis (review) + pmids: + - "16112461" + - text: "Multiple K-RAS mutations are frequent both in PC with associated PanIN and in biliary cancers, and indicate that clonally distinct precursor lesions of PC might variably contribute to tumor development." + pmids: + - "12082617" + - text: "acute hyperglycemia-mediated mononuclear cell activation is dependent on activation of ras, p42/p44 mitogen-activated protein kinase phosphorylation, and subsequent NF-kappaB activation" + pmids: + - "12606501" + - text: Specific T-cell immunity against Ki-ras peptides in patients with pancreatic and colorectal cancers. + pmids: + - "12592366" + - text: Results suggest that changes in telomerase activity and K-ras point mutation at codon 12 may be an early event of malignant progression in pancreatic cancer. + pmids: + - "15112354" + - text: K-ras mutations are frequently found in surgical margins in non-small-cell lung carcinoma patients. + pmids: + - "15112277" + - text: oncogenic levels of mitogen-activated protein kinase (MAPK) signaling of the dinucleotide KRAS2 mutations G12F and GG12-13VC + pmids: + - "11668624" + - text: "the constitutive activation of Ras might have induced the persistent expression of p21cip1 and p27kip1, and that this induction of p21cip1 and p27kip1 expression possibly caused the cell cycle arrest at the G1 phase." + pmids: + - "12452332" + - text: "No somatic mutations were identified in either TP53 or KRAS, indicating that disregulation of these genes is not required for leiomyomas development" + pmids: + - "12766905" + - text: ovarian serous cystadenomas do not contain mutations in either BRAF or KRAS genes + pmids: + - "15077125" + - text: "Polymorphisms in some insulin-related genes are associated with an increased risk of colon cancer with specific KRAS2 and TP53 mutations, implying a link between these genetic changes and specific mutational pathways in carcinogenesis." + pmids: + - "16448675" + - text: Germline KRAS mutations are a cause of human disease and infer that the constellation of developmental abnormalities seen in Noonan syndrome spectrum is due to hyperactive Ras. + pmids: + - "16474405" + - text: Cardio-facio-cutaneous (CFC) syndrome involves dysregulation of the RAS-RAF-ERK pathway. + pmids: + - "16474404" + - text: Genomic instability may occur on 12p-12-13 of Kras2 gene in the development and progression of colon carcinoma. The high LOH of Kras2 gene may directly influence the transcription and translation of wild type Kras2 gene. + pmids: + - "16534842" + - text: "BRAF, K-ras and BAT26 are expressed in colorectal polyps and stool" + pmids: + - "16937524" + - text: "A KRAS mutation in a baby girl with an early clinical diagnosis of cardio-facio-cutaneous syndrome associated with a large ulcerating hemangioma, is reported." + pmids: + - "17551339" + - text: "Detection of P21 may be used as the screening marker for diagnosis of polycyclic aromatic hydrocarbons (PAHs)-related lung cancer related lung cancer, and may supplement the diagnostic value of conventional cytology." + pmids: + - "14761400" + - text: KRAS has a role in villous growth in colorectal adenomas + pmids: + - "16373972" + - text: the combination of an activating mutation of the TSH receptor (T620I) and a mutation of the Ki-RAS (G12C) genes may play an important role in both the hyperfunction of follicular thyroid carcinoma and the carcinogenetic process + pmids: + - "16756473" + - text: "Concomitant KRAS and BRAF mutations increased along progression of MSS colorectal cancer, suggesting that activation of both genes is likely to harbour a synergistic effect" + pmids: + - "16953233" + - text: analysis of oxidative posttranslational modifications of cysteine thiols of p21ras associated with redox modulation + pmids: + - "17320764" + - text: valine-12 Ki-Ras mutants demonstrated a greater ability to invade Matrigel than cells expressing the aspartate-12 mutant or wild-type Ki-Ras proteins. + pmids: + - "11745690" + - text: "It is proposed that lowering the affinity for GTP allows G12D Ras an escape from the oncogenic GTP-bound state, whereas GTP tightly bound to G12V mutant Ras generates a more persistent, potentially oncogenic, signal." + pmids: + - "10398103" + - text: "K-Ras4B polybasic domain or an alternatively prenylated CAAX renders Ras prenylation, Ras-induced Elk-1 activation, and anchorage-independent cell growth farnesyltransferase inhibitor-resistant." + pmids: + - "12882980" + - text: "" + pmids: [] +- gene_id: "7273" + summary: "This gene encodes a large abundant protein of striated muscle. The product of this gene is divided into two regions, a N-terminal I-band and a C-terminal A-band. The I-band, which is the elastic part of the molecule, contains two regions of tandem immunoglobulin domains on either side of a PEVK region that is rich in proline, glutamate, valine and lysine. The A-band, which is thought to act as a protein-ruler, contains a mixture of immunoglobulin and fibronectin repeats, and possesses kinase activity. An N-terminal Z-disc region and a C-terminal M-line region bind to the Z-line and M-line of the sarcomere, respectively, so that a single titin molecule spans half the length of a sarcomere. Titin also contains binding sites for muscle associated proteins so it serves as an adhesion template for the assembly of contractile machinery in muscle cells. It has also been identified as a structural protein for chromosomes. Alternative splicing of this gene results in multiple transcript variants. Considerable variability exists in the I-band, the M-line and the Z-disc regions of titin. Variability in the I-band region contributes to the differences in elasticity of different titin isoforms and, therefore, to the differences in elasticity of different muscle types. Mutations in this gene are associated with familial hypertrophic cardiomyopathy 9, and autoantibodies to titin are produced in patients with the autoimmune disease scleroderma. [provided by RefSeq, Feb 2012]" + rif_entries: + - text: Cardiomyopathy prevalence exceeds 30% in individuals with TTN variants and early atrial fibrillation. + pmids: + - "36637017" + - text: "[Recent studies on dilated cardiomyopathy caused by TTN mutations in children]." + pmids: + - "36854701" + - text: "Anxiety and Cardiovascular Disease Risk: a Review." + pmids: + - "27796859" + - text: Fetal akinesia deformation sequence syndrome associated with recessive TTN variants. + pmids: + - "36495114" + - text: Titin-truncating variants in hiPSC cardiomyocytes induce pathogenic proteinopathy and sarcomere defects with preserved core contractile machinery. + pmids: + - "36525964" + - text: Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-only c.39974-11T > G Splice Variant. + pmids: + - "35605965" + - text: Interdomain Linker Effect on the Mechanical Stability of Ig Domains in Titin. + pmids: + - "36077234" + - text: TTN Variants Are Associated with Physical Performance and Provide Potential Markers for Sport-Related Phenotypes. + pmids: + - "36011809" + - text: "Titin-related Cardiomyopathy: Is it a Distinct Disease?" + pmids: + - "35759169" + - text: Exploring the Potential of Symmetric Exon Deletion to Treat Non-Ischemic Dilated Cardiomyopathy by Removing Frameshift Mutations in TTN. + pmids: + - "35741855" + - text: Array Comparative Genomic Hybridisation and Droplet Digital PCR Uncover Recurrent Copy Number Variation of the TTN Segmental Duplication Region. + pmids: + - "35627290" + - text: "Novel compound heterozygous mutations in the TTN gene: elongation and truncation variants causing limb-girdle muscular dystrophy type 2J in a Han Chinese family." + pmids: + - "35239051" + - text: Truncated titin proteins in dilated cardiomyopathy. + pmids: + - "34731015" + - text: Truncated titin proteins and titin haploinsufficiency are targets for functional recovery in human cardiomyopathy due to TTN mutations. + pmids: + - "34731013" + - text: Functional impact of titin (TTN) mutations in ocular surface squamous neoplasia. + pmids: + - "34838574" + - text: "Dilated cardiomyopathy caused by truncating titin variants: long-term outcomes, arrhythmias, response to treatment and sex differences." + pmids: + - "33106378" + - text: When is an obscurin variant pathogenic? The impact of Arg4344Gln and Arg4444Trp variants on protein-protein interactions and protein stability. + pmids: + - "33438037" + - text: Titin-truncating mutations associated with dilated cardiomyopathy alter length-dependent activation and its modulation via phosphorylation. + pmids: + - "33135063" + - text: Reading Frame Repair of TTN Truncation Variants Restores Titin Quantity and Functions. + pmids: + - "34905694" + - text: Contribution of Noncanonical Splice Variants to TTN Truncating Variant Cardiomyopathy. + pmids: + - "34461741" + - text: Prevalence and Evolution of Right Ventricular Dysfunction Among Different Genetic Backgrounds in Dilated Cardiomyopathy. + pmids: + - "34273475" + - text: Genotype phenotype analysis in a family carrying truncating mutations in the titin gene. + pmids: + - "33870097" + - text: Making sense of missense variants in TTN-related congenital myopathies. + pmids: + - "33449170" + - text: "Substrate Characterization and Outcomes of Ventricular Tachycardia Ablation in TTN (Titin) Cardiomyopathy: A Multicenter Study." + pmids: + - "34315225" + - text: The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy. + pmids: + - "34201072" + - text: "The Interplay Between Titin, Polygenic Risk, and Modifiable Cardiovascular Risk Factors in Atrial Fibrillation." + pmids: + - "33373724" + - text: Single-Molecule Force Spectroscopy Studies of Missense Titin Mutations That Are Likely Causing Cardiomyopathy. + pmids: + - "34618459" + - text: Genetic Dilated Cardiomyopathy Due to TTN Variants Without Known Familial Disease. + pmids: + - "33190517" + - text: Muscle ankyrin repeat protein 1 (MARP1) locks titin to the sarcomeric thin filament and is a passive force regulator. + pmids: + - "34152365" + - text: A Novel TTN Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure. + pmids: + - "34108290" + - text: Distinct Cardiac Transcriptomic Clustering in Titin and Lamin A/C-Associated Dilated Cardiomyopathy Patients. + pmids: + - "32955937" + - text: Recurrent TTN metatranscript-only c.39974-11T>G splice variant associated with autosomal recessive arthrogryposis multiplex congenita and myopathy. + pmids: + - "31660661" + - text: "The importance of chain context in assessing small nucleotide variants in titin: in silico case study of the I10-I11 tandem and its arrhythmic right ventricular cardiomyopathy linked position T2580." + pmids: + - "32396765" + - text: Generation of a hiPSC line ZZUNEUi017-A from a patient with dilated cardiomyopathy caused by mutation in TTN. + pmids: + - "33610015" + - text: LncRNA TTNAS1 promotes endometrial cancer by sponging miR376a3p. + pmids: + - "32945477" + - text: Molecular Characterisation of Titin N2A and Its Binding of CARP Reveals a Titin/Actin Cross-linking Mechanism. + pmids: + - "33647290" + - text: Prognostic implications of pathogenic truncating variants in the TTN gene. + pmids: + - "32371228" + - text: Novel heterozygous truncating titin variants affecting the A-band are associated with cardiomyopathy and myopathy/muscular dystrophy. + pmids: + - "32815318" + - text: "[Analysis of DSG2, TTN and GATA4 gene variants in patients with Brugada syndrome from Henan]." + pmids: + - "33974263" + - text: A Novel Titin Truncation Variant Linked to Familial Dilated Cardiomyopathy Found in a Japanese Family and Its Functional Analysis in Genome-Edited Model Cells. + pmids: + - "33678800" + - text: "N2A Titin: Signaling Hub and Mechanical Switch in Skeletal Muscle." + pmids: + - "32492876" + - text: Long non-coding RNA TTN-AS1 aggravates carcinogenesis through Wnt/beta-catenin signaling pathway by sponging miR-1271 in hepatocellular carcinoma. + pmids: + - "31295985" + - text: Elevated Urinary Titin and its Associated Clinical Outcomes after Acute Stroke. + pmids: + - "33360523" + - text: Clinical Phenotypes and Prognosis of Dilated Cardiomyopathy Caused by Truncating Variants in the TTN Gene. + pmids: + - "32964742" + - text: Low mutation rate in the TTN gene in paediatric patients with dilated cardiomyopathy - a pilot study. + pmids: + - "31712709" + - text: "Lymphocytic Myocarditis: A Genetically Predisposed Disease?" + pmids: + - "32553263" + - text: Prediction of the initial folding sites and the entire folding processes for Ig-like beta-sandwich proteins. + pmids: + - "31833097" + - text: Titin Truncating Variants in Adults Without Known Congestive Heart Failure. + pmids: + - "32164899" + - text: "Prevalence of TTN mutations in patients with dilated cardiomyopathy : A meta-analysis.\", trans \"Pravalenz von TTN-Mutationen bei Patienten mit dilatativer Kardiomyopathie : Eine Metaanalyse." + pmids: + - "31209521" + - text: Early-onset atrial fibrillation patients show reduced left ventricular ejection fraction and increased atrial fibrosis. + pmids: + - "32572052" + - text: Improved Criteria for the Classification of Titin Variants in Inherited Skeletal Myopathies. + pmids: + - "32039858" + - text: Upregulation of Yy1 Suppresses Dilated Cardiomyopathy caused by Ttn insufficiency. + pmids: + - "31705051" + - text: Relevance of Titin Missense and Non-Frameshifting Insertions/Deletions Variants in Dilated Cardiomyopathy. + pmids: + - "30858397" + - text: Broad Genetic Testing in a Clinical Setting Uncovers a High Prevalence of Titin Loss-of-Function Variants in Very Early Onset Atrial Fibrillation. + pmids: + - "31638414" + - text: "Stretching single titin molecules from failing human hearts reveals titin's role in blunting cardiac kinetic reserve." + pmids: + - "30778519" + - text: Truncating founder mutations in TTN shows a relatively mild disease course with significant excess mortality in elderly patients. + pmids: + - "31112426" + - text: "TTN gene deletion is associated with skeletal myopathy, facial weakness, and dilated cardiomyopathy." + pmids: + - "31489791" + - text: We analyzed left ventricular samples from young (6months) and old (20months) wild-type mice and healthy human donor patients grouped according to age in young (17-50years) and aged hearts (51-73years). We found no age-dependent differences in titin isoform composition of mouse or human hearts + pmids: + - "31421188" + - text: To effectively assemble and evaluate AONs for efficient exon-skipping in targeted TTN exons. + pmids: + - "30998980" + - text: Cronos titin is expressed in developing human cardiac myocytes and is able to support partial sarcomere formation in the absence of full-length titin. Cronos titin is necessary for proper sarcomere function in human induced pluripotent stem cell derived cardiac myocytes. + pmids: + - "31587567" + - text: an impaired interaction between titin and MURF1 as a novel mechanism underlying the pathogenesis ofHypertrophic cardiomyopathy (HCM). + pmids: + - "31628103" + - text: "The novel mutations reported expand the mutation spectrum of the TTN gene. There is a characteristic pattern of muscle involvement in congenital titinopathy regardless of clinical or pathological phenotype, providing valuable clues for guiding a genetic diagnosis workup." + pmids: + - "31353864" + - text: "In this review, we first recollect what is known from earlier and recent work on the molecular mechanisms of titin extensibility and force generation. The main goal then is to provide a comprehensive overview of current insight into the relationship between titin PTMs and cardiomyocyte stiffness, notably the effect of oxidation and phosphorylation of titin spring segments on titin stiffness." + pmids: + - "30989819" + - text: The considerable prevalence of truncating variants in titin reduce contractile function in dilated cardiomyopathy by impairing sarcomerogenesis. (Review) + pmids: + - "30978303" + - text: Individuals of European ancestry with titin truncating variants have an abnormal cardiac phenotype with lower left ejection fraction. + pmids: + - "31216868" + - text: Nine of the 14 relatives with a familial TTN mutation had no signs of a cardiomyopathy. + pmids: + - "30947911" + - text: TTN-AS1 promoted colorectal cancer proliferation and invasion through miR-376a-3p/KLF15 axis. Our findings suggested that TTN-AS1 might be a potential therapeutic target in CRC treatment. + pmids: + - "31610194" + - text: "identified a homozygous missense variant in TTN, which likely explains limb-girdle muscular dystrophy type 10 in this family in line with similar previously reported data" + pmids: + - "31664938" + - text: the clinical significance of U-TN in the diagnosis of muscular dystrophies and differential diagnosis of cardiomyopathies + pmids: + - "30959043" + - text: Editorial on studies of titan genetic variants in dilated cardiomyopathy. + pmids: + - "29377983" + - text: Hemodynamic stress may be an important modifiable risk factor in human TTN truncation variant-related Dilated cardiomyopathy. + pmids: + - "30354343" + - text: This study demonstrated that the Genetic Variants in Titin in Patients With Muscle Disorders. + pmids: + - "29435569" + - text: PTB4 is a novel titin splicing regulator that counteracts the splice repressor activity of RBM20. + pmids: + - "29518215" + - text: Our case below further highlights the phenotypic variability and cardiac involvement in recessive titinopathy + pmids: + - "30681174" + - text: "The study observed abnormal contractility in human heart myofibrils from patients with dilated cardiomyopathy due to mutations in TTN and contractile protein genes. Isolated were cardiac myofibrils from 3 TTNtv mutants, and 3 with contractile protein mutations (TNNI3 K36Q, TNNC1 G159D and MYH7 E1426K) and measured their contractility and passive stiffness in comparison with donor heart muscle as a control." + pmids: + - "29093449" + - text: Two novel previously undescribed mutations identified in HMERF titinopathy. + pmids: + - "30666435" + - text: "Novel mutations in TTN Mex5, Mex6 and A-band exon 340 were identified in homozygosity or compound heterozygosity with a frameshift or nonsense mutation in TTN I- or A-band region. Family members having only one of these TTN mutations were healthy. Our results add yet another entity to the list of distal myopathies: juvenile or early adult onset recessive distal titinopathy." + pmids: + - "27796757" + - text: "Missense mutation of TTN may act as a beneficial role in lung squamous cell carcinoma, but not in lung adenocarcinoma." + pmids: + - "30810839" + - text: "Study demonstrates that while the basal excitation-contraction-coupling machinery of titin-mutated induced pluripotent stem cell-derived cardiomyocytes (iPSC-CM) from dilated cardiomyopathy patients appears intact, their responsiveness to positive inotropic interventions is blunted compared to healthy iPSC-CM." + pmids: + - "30332462" + - text: Titin I27 folds in the mouth of the ribosome exit tunnel. + pmids: + - "30413621" + - text: "The finding expands the phenotypes that can be caused by pathogenic variants TTN, which should be considered in lethal congenital contracture syndromes, arthrogryposis multiplex congenita, congenital myopathies, and hydrops fetalis." + pmids: + - "29575618" + - text: A founder effect in TTN was found to be associated with cardiomyopathy. + pmids: + - "29057560" + - text: Obscurin-Binding Domains in Titin + pmids: + - "30289063" + - text: truncating variants important risk factors for atrial fibrillation + pmids: + - "30333491" + - text: "Among the 120 dilated cardiomyopathy patients, 20 (16.7%) had TTN truncating variants." + pmids: + - "29386531" + - text: "In a case-control study, there was a statistically significant association between an LOF variant in the TTN gene and early-onset AF, with the variant present in a small percentage of participants with early-onset AF (the case group)." + pmids: + - "30535219" + - text: "novel titin gene-truncating mutation NM_001267550: p.Leu23499fs/c.70497_40498insT found in the proband as well as in her mother in woman with peripartum cardiomyopathy" + pmids: + - "29997384" + - text: Titin isoform expression differs in aortic stenosis and aortic regurgitation as adaptive response to different pathophysiologic scenarios. + pmids: + - "29472025" + - text: "TTN missense variants were commonly identified in arrhythmogenic cardiomyopathy patients in this cohort, but did not appear to play a primary role in ACM as causative variants." + pmids: + - "29750433" + - text: This is the first study to suggest the involvement of the novel missense CACNA1C c.1786G>A and TTN c.49415G>A variants in the inheritance of symptomatic bradycardia and development of sick sinus syndrome. + pmids: + - "29568937" + - text: We employed WES to detect the mutations of DCM patients and identified 2 novel mutations. Our study expands the spectrum of TTN mutations and offers accurate genetic testing information for DCM patients who are still clinically negative. + pmids: + - "27544385" + - text: "urinary concentration of titin correlated significantly with serum creatine kinase concentration, the best-known biomarker of Duchenne muscular dystrophy; the N-terminal fragment of titin in urine has potential as a diagnostic and clinical biomarker for DMD" + pmids: + - "29175173" + - text: we considered titin fragments as promising candidates for reliable and non-invasive biomarkers of muscle injury. + pmids: + - "27991570" + - text: "TTN plays a role in regulation of cardiac electrical conductance and coupling, and is a risk factor for cardiac arrhythmias and sudden cardiac death" + pmids: + - "27321809" + - text: The T-allele at rs10497520 in the TTN gene is associated with shorter skeletal muscle fascicle length and conveys an advantage for marathon running performance in habitually trained men. + pmids: + - "28581678" + - text: "An overview of the different neuromuscular disorders caused by mutations in the TTN gene, reviewing the molecular findings as well as the clinical data (review)." + pmids: + - "27854229" + - text: "This review considers data on structural and functional features of titin, on the role of this protein in determination of mechanical properties of sarcomeres, and on specific features of regulation of the stiffness and elasticity of its molecules, and possible amyloid aggregation of this protein" + pmids: + - "29523065" + - text: Exome sequencing was conducted and a novel mutation c.107788T>C (p.W35930R) in the titin gene (TTN) was identified. + pmids: + - "26392295" + - text: "Study found that there is a missense mutation in the TTN gene, c.100126A > G (p.Thr33376Ala), in a family whose members suffer from familial dilated cardiomyopathy. TTN is closely related to dilated cardiomyopathy and is an important causative gene of familial dilated cardiomyopathy." + pmids: + - "29109008" + - text: Truncating titin mutations cause a mild and treatable form of dilated cardiomyopathy. + pmids: + - "27813223" + - text: Activation of titin protein represents an initial step forward adaptive remodelling of the exercised muscle and may also be involved in the initiation of myofibre repair. + pmids: + - "28712031" + - text: Quantitative models derived from large-scale human genetic and phenotypic data can be applied to truncating mutations in titin in dilated cardiomyopathy. + pmids: + - "27625338" + - text: Novel A178D missense mutation in titin is a cause of a highly penetrant familial cardiomyopathy with features of left ventricular noncompaction. + pmids: + - "27625337" + - text: "Variants near TTN and CCDC8 were associated with KI67 expression, and rs2288563 and rs2562832 in TTN are potential biomarkers for the prediction of clinical outcomes in hepatitis B-related hepatocellular carcinoma patients." + pmids: + - "28700999" + - text: Recent studies classify pathogenic variants in the TTN gene as the main responsible for Familial Dilated Cardiomyopathy. + pmids: + - "27736720" + - text: TTNtv might be a genetic modifier of HCM and confer an increased risk for cardiovascular death. + pmids: + - "28822653" + - text: Heterozygous loss of RBM20 suffices to profoundly impair myocyte biomechanics by its disturbance of TTN splicing causing dilated cardiomyopathy. + pmids: + - "27496873" + - text: Study identified a probable association between variation in TTN gene and patients with sudden unexpected death syndrome. + pmids: + - "28704380" + - text: We report that missense variant in the A-band of TTN gene is the strongest candidate mutation for autosomal-dominant inguinal hernia with incomplete penetrance. + pmids: + - "27115767" + - text: Titin-truncating variant is associated with dilated cardiomyopathy. + pmids: + - "27869827" + - text: Data suggest that disulfide bonds can alter mechanical stability of proteins in different ways depending on properties of system. Disulfide-bonded E coli FimG (minor component of type 1 fimbriae) undergoes a 30% increase in its mechanical stability compared with its reduced counterpart. Unfolding force of human titan I91 domain exhibits decrease of 15% relative to the wild-type form. + pmids: + - "28642368" + - text: "TTN truncating variants were observed in nearly one fourth of young dilated cardiomyopathy patient population, in vast majority without conduction system disease." + pmids: + - "28045975" + - text: "detected an Linkage Disequilibrium block associated with a rapid functional decline in patients with sporadic ALS, which is linked to decreased expression of TTN." + pmids: + - "26746183" + - text: "An estimated probability of pathogenicity of TTN truncating mutations affecting all transcripts of TTN, identified in unselected dilated cardiomyopathy patients is 97.8%." + pmids: + - "26777568" + - text: TTN variant segregated with hypertrophic cardiomyopathy in affected members of the family. + pmids: + - "28223422" + - text: A distinct phenotype for patients with distal myopathy is associated with novel recessive TTN variants including a Serbian founder variant. + pmids: + - "28295036" + - text: "The results showed that MYBPC3 25-bp deletion polymorphism was significantly associated with elevated risk of left ventricular dysfunction (LVD), while TTN 18 bp I/D, TNNT2 5 bp I/D and myospryn K2906N polymorphisms did not show any significant association with LVD." + pmids: + - "27350668" + - text: Results show that the titin I27Y9P variant has similar mechanical stability as the wildtype. + pmids: + - "27021163" + - text: "Phosphorylating Titin's Cardiac N2B Element by ERK2 or CaMKIIdelta Lowers the Single Molecule and Cardiac Muscle Force" + pmids: + - "26682816" + - text: Suggest a potential biological role for some TTN missense variants in dilated cardiomyopathy. + pmids: + - "26567375" + - text: "Data suggest that titin functions as an integrated protein chain where functionalities emerge from the joint action of titan and other sarcomere/A-band components (such as TCAP); titin exhibits tertiary elasticity and molecular shape memory. [REVIEW]" + pmids: + - "26517893" + - text: a large number of VUS in the TTN gene were identified from a cohort of samples from patients suffering cardiac diseases associated with sudden cardiac death. + pmids: + - "26516846" + - text: "TTN mutations have been strongly associated with four cardiomyopathies: Dilated cardiomyopathy, Hypertrophic cardiomyopathy, Arrhythmogenic right ventricular cardiomyopathy and Restrictive cardiomyopathy." + pmids: + - "26024954" + - text: The distribution of truncating variants in a large series of women with peripartum cardiomyopathy was remarkably similar to that found in patients with idiopathic dilated cardiomyopathy. + pmids: + - "26735901" + - text: Cleavage of C-terminal titin by CAPN3 is associated with limb-girdle muscular dystrophy 2A and tibial muscular dystrophy. + pmids: + - "25877298" + - text: findings indicate that titin mutations cause dilated cardiomyopathy by disrupting critical linkages between sarcomerogenesis and adaptive remodeling + pmids: + - "26315439" + - text: Engineered all four of the naturally occurring human M10 (the extreme C-terminus of titin) missense mutants and biophysically characterized them in vitro. + pmids: + - "25739468" + - text: an increase in intracellular Ca(2+) concentration leads to Ca(2+) binding to the PEVK region of titin. + pmids: + - "25421125" + - text: "An increase in the degree of titin phosphorylation results in increased proteolytic degradation of this protein, that contributes to the development of skeletal muscle atrophy." + pmids: + - "26394485" + - text: TTNtv is the most common genetic cause of dilated cardiomyopathy in ambulant patients + pmids: + - "25589632" + - text: MMP-2 degraded Titin fragment in serum is related to induction of skeletal muscle atrophy. + pmids: + - "25077715" + - text: individual subfragments of titin and myomesin composed of Fn type III and Ig-like domains can activate expression of two IGF-1 splice forms in cultured myoblasts + pmids: + - "25152160" + - text: "Patients with hypertension and heart failure with preserved ejection fraction had an increase in S11878(S26), no change in S12022(S170) and a decrease in S4185(S469). There were no significant differences between HTN(-)HFpEF or controls at these 3 sites." + pmids: + - "25637629" + - text: Results suggest that mutation in TTN could be implicated in the pathogenesis of puerperal cardiomyopathies. + pmids: + - "24558114" + - text: "this study presents here the X-ray structure of the human titin:obscurin M10:O1 complex extending our previous work on the M10:OL1 interaction." + pmids: + - "25490259" + - text: DNA sequence analysis of patients with dilated cardiomyopathy shows that genetic variation in TTN gene contributes to a 14% of the cases. + pmids: + - "24503780" + - text: alpha-Synemin localizes to the M-band of the sarcomere through interaction with the M10 region of titin + pmids: + - "25447537" + - text: "Eccentric explosive exercise induced a stretch or fragmentation of titin, which presented as a positional change of the COOH terminus." + pmids: + - "24458745" + - text: Data reveal that Titin protein is a pseudokinase with non-detectable catalytic output but is a high-affinity binding locus for MuRF1. + pmids: + - "24850911" + - text: Investigated how hereditary myopathy with early respiratory failure disease-causing mutations affect the biochemical behavior of TTN gene that codes for the fibronectin III domain 119; suggests defective protein folding + pmids: + - "24636144" + - text: This study proves that the titin p.C30071R mutation itself (rather than the haplotype containing this mutation) causes hereditary myopathy with early respiratory failure and suggests its independent origin in different ethnic groups. + pmids: + - "24444549" + - text: "In a novel mouse model, titin's stiffness is slightly increased by deleting nine immunoglobulin (Ig)-like domains from titin's constitutively expressed proximal tandem Ig segment (IG KO)." + pmids: + - "24470489" + - text: Heterozygous TTN truncating mutations may not manifest unless associated with a second mutation in novel forms of core myopathy with heart disease. + pmids: + - "24105469" + - text: Mutations in titin were found to cause familial restrictive cardiomyopathy. + pmids: + - "24315344" + - text: the hereditary myopathy with early respiratory failure due to mutations in the TTN gene be nosologically classified as myofibrillar myopathy-titinopathy. + pmids: + - "23486992" + - text: "Study shows that mechanical unfolding of titin immunoglobulin (Ig) domains exposes buried cysteine residues, which then can be S-glutathionylated. S-glutathionylation of cryptic cysteines greatly decreases the mechanical stability of the parent Ig domain as well as its ability to fold. Both effects favor a more extensible state of titin." + pmids: + - "24630725" + - text: "This review covers the roles of cardiac titin in normal and failing hearts, emphasizing its contribution to diastolic stiffness, and updates disease-associated titin mutations and the impact of protein-protein interactions on its properties and functions." + pmids: + - "24625729" + - text: The results of this study demonistrated that complexity of muscular dystrophies caused by TTN mutations and suggest that the coexistence of second mutations may constitute a more common general mechanism explaining phenotype variability. + pmids: + - "24395473" + - text: Differential changes in titin domain phosphorylation increase myofilament stiffness in failing human hearts. + pmids: + - "23764881" + - text: High TTN expression is associated with gastric cancer. + pmids: + - "23907728" + - text: a strong relationship between mutations in the A-band domain of titin and hereditary myopathy with early respiratory failure + pmids: + - "23446887" + - text: novel titin Ig-calcium interaction + pmids: + - "23224300" + - text: "TTN mutations are associated with centronuclear myopathy (CNM): TTN mutation analysis should be considered in cases of possible CNM without mutations in the classic CNM genes." + pmids: + - "23975875" + - text: TTN was the only gene with inplicated rare variants that occurred in multiple DCM families and A region (chr9q21.11-q22.31) with no known DCM genes with a maximum heterogeneity logarithm of odds score of 1.74. + pmids: + - "23418287" + - text: This study identified p.Gly30150Asp and the p.Cys30071Arg mutation are localized to a side chain of fibronectin type III element A150 of the 10th C-zone super-repeat of titin. + pmids: + - "23514108" + - text: "[review] Signal pathways of titin isoforms are described in a major human cardiovascular disease." + pmids: + - "23439446" + - text: Human end-stage failing hearts revealed higher CaMKII expression/activity & phosphorylation at PEVK/titin N2B-unique sequence sites than donor hearts. Deranged CaMKII-dependent titin phosphorylation contributes to altered diastolic stress. + pmids: + - "23283722" + - text: titin-12670 fragment is present in both individuals with undiagnosed and diagnosed CVD. The statistically significant increase in level of the marker in the AMI group is indicative that this neoepitope biomarker may be a useful serological marker in AMI + pmids: + - "22768802" + - text: Different pressure-temperature behavior of the structured and unstructured regions of titin. + pmids: + - "23063534" + - text: A novel mechanism involving four-and-a-half LIM domain protein-1 and extracellular signal-regulated kinase-2 regulates titin phosphorylation and mechanics. + pmids: + - "22778266" + - text: Spontaneous dimerization of titin protein Z1Z2 domains induces strong nanomechanical anchoring. + pmids: + - "22523089" + - text: This study identified three different Swedish Hereditary myopathy with early respiratory failure families with a new mutation in the A-band titin. + pmids: + - "22577218" + - text: This study presented that patients with hereditary myopathy with early respiratory failure linke with Titin mutation. + pmids: + - "22577215" + - text: "In addition to titin (TTN), we identified a set of 30 genes with conserved splicing regulation between humans and rats" + pmids: + - "22466703" + - text: "in response to the increased compliance of the extracellular matrix in muscle of tenascin-X deficient Ehlers-Danlos Syndrome patients, a marked intracellular stiffening occurs of the giant protein titin" + pmids: + - "22223454" + - text: "In the present study, we describe a novel titin truncation mutation causing adult-onset familial dilated cardiomyopathy in an Israeli Arab family." + pmids: + - "22475360" + - text: "Robust and processive unfolding/degradation of some substrates with very stable protein domains, including mDHFR and titin(I27) ." + pmids: + - "22162032" + - text: "TTN truncating mutations are a common cause of dilated cardiomyopathy, occurring in approximately 25% of familial cases of idiopathic dilated cardiomyopathy and in 18% of sporadic cases." + pmids: + - "22335739" + - text: titin kinase is organized in such a way that the regulatory domains have to unfold before secondary structure elements that determine the overall fold and catalytic function + pmids: + - "22004752" + - text: MMP-2 localizes to titin at the Z-disk region of the cardiac sarcomere and contributes to titin degradation in myocardial ischemia/reperfusion injury. + pmids: + - "21041693" + - text: Structural impairment of the titin spring is a likely cause of arrhythmogenic right ventricular cardiomyopahty and constitutes a novel mechanism underlying myocardial remodeling and sudden cardiac death. + pmids: + - "21810661" + - text: octamer structure studies by small-angle x-ray scattering and single-molecule force spectroscopy + pmids: + - "21728583" + - text: This study reports the characterization of both the expressed immunogenic domain and characterizes in more detail the cDNA and the specific antibody titin interactions involved in autoimmune rippling muscle disease. + pmids: + - "21741357" + - text: "The giant protein titin: a regulatory node that integrates myocyte signaling pathways" + pmids: + - "21257761" + - text: "The anti-titin monoclonal antibody could be a valuable tool in the study of titin function and its subcellular location, both in muscle and non-muscle cells." + pmids: + - "21050039" + - text: a French family with an autosomal-dominant late-onset distal myopathy of the tibial muscular dystrophy phenotype segregating in several members of the family was described + pmids: + - "20571043" + - text: This study evaluated the role of the main immunogenic region (MIR) of titin in MGT pathogenesis myasthenia gravis (MG) patients with thymoma. + pmids: + - "20926005" + - text: Observational study of gene-disease association and gene-environment interaction. (HuGE Navigator) + pmids: + - "20952631" + - text: Observational study and genome-wide association study of gene-disease association. (HuGE Navigator) + pmids: + - "20808825" + - text: Interactions with M-band titin and calpain 3 link myospryn (CMYA5) to tibial and limb-girdle muscular dystrophies. + pmids: + - "20634290" + - text: "Recent titin data is reviewed and its implications for sarcomere architecture and elasticity, are discussed." + pmids: + - "20625501" + - text: Results describe the molecular basis for the head-to-tail interaction of the carboxyl terminus of titin and the amino-terminus of obscurin-like-1 by X-ray crystallography. + pmids: + - "20489725" + - text: analysis of sequence conservation in FnIII domains from A-band titin points to the existence of conformationally defined interfaces at specific superrepeat positio + pmids: + - "20542041" + - text: "Observational study of gene-disease association, gene-environment interaction, and pharmacogenomic / toxicogenomic. (HuGE Navigator)" + pmids: + - "20628086" + - text: the first Italian cases of TTN mutated titinopathy + pmids: + - "19911250" + - text: "Review recent findings on the structure, molecular associations, and mechanics of titin's Z-disk region, and report experimental results on the dynamic strength of titin's Z1Z2 domains." + pmids: + - "20414364" + - text: "Using the actin-severing protein gelsolin, we obtained evidence that titin-actin interaction contributes significantly to passive myocardial stiffness." + pmids: + - "20414336" + - text: role in diastolic heart function whereby passive stiffness can be fine tuned + pmids: + - "20479164" + - text: Heterogeneous conservation in dynamics of the titin Ig domains. + pmids: + - "20171214" + - text: "disulfide bonding occurring in titin's N2-B unique sequence, but not the Ig domains, may play a role in the increased global passive stiffness of the heart seen in various pathological conditions" + pmids: + - "19651040" + - text: Data indicate that the mechanical properties of each domain are well conserved and tailored to its unique position in the titin molecule. + pmids: + - "19003986" + - text: "Report PKC phosphorylation of titin's PEVK element: a novel and conserved pathway for modulating myocardial stiffness." + pmids: + - "19679839" + - text: The complex between the muscle proteins titin and telethonin forms a highly directed molecular bond. + pmids: + - "19622741" + - text: "Single molecule force spectroscopy of the cardiac titin N2B element: effects of the molecular chaperone alphaB-crystallin with disease-causing mutations." + pmids: + - "19282282" + - text: Hypophosphorylation of the Stiff N2B titin isoform raises cardiomyocyte resting tension in failing human myocardium. + pmids: + - "19179657" + - text: Tibial muscular dystrophy patients with truncating mutations in C-terminal titin show a more severe phenotype with earlier onset implying a genotype-phenotype correlation. + pmids: + - "18948003" + - text: "S469 near the COOH terminus of the cardiac N2-B-unique sequence (N2-Bus) is a PKG & PKA phosphorylation site. cGMP-PKG increased the bending rigidity of the N2-Bus, explaining the overall PKG-mediated decrease in cardiomyofibrillar stiffness." + pmids: + - "19023132" + - text: "rate-limiting step of the global unfolding upon import into mitochondria switches, depending on the balance between the stability of the N-terminal structure and the stability of the core region of the titin I27 domain" + pmids: + - "19013176" + - text: Observational study of gene-disease association. (HuGE Navigator) + pmids: + - "19913121" + - "19608031" + - "19134271" + - text: "Our results indicate that although at low levels, titin is expressed in cartilage." + pmids: + - "17920806" + - text: two sm-titin Zq domains interact with each other and with the two R2-R3 sites in the alpha-actinin central rod + pmids: + - "18519573" + - text: A mechanistic model of titin is proposed based on freely jointed rigid segments that rationalizes the response to stretch of titin immunoglobulin (Ig)-tandems according to molecular features. + pmids: + - "18212128" + - text: "Spectrin-titin domain pairs of both spectrin R16 and R17 with a single titin I27 domain at either the N- or the C-terminus were created and found that spectrin domains are significantly stabilized, by nonnative interactions at the C-terminus only." + pmids: + - "17890397" + - text: the motor protein SecA plays an important and decisive role in promoting unfolding of the titin I27 domain + pmids: + - "17669421" + - text: biophysical analysis of the elasticity of titin Z1Z2 and a titin chain model + pmids: + - "17496052" + - text: titin splice diversity regulates structure and biomechanics of the sarcomere + pmids: + - "17522126" + - text: "the molecular structure of a tandem arrangement of two immunoglobulin-like domains, A168 and A169, located within the A-band segment of titin" + pmids: + - "17574571" + - text: biophysical analysis of the PEVK domain of skeletal-muscle titin + pmids: + - "15849252" + - text: Titin is a giant scaffold for integrating stress and Src homology domain 3-mediated signaling pathways + pmids: + - "16766517" + - text: These results suggest that differential expression of titin gene exons in nonmuscle cells yields multiple novel isoforms of the protein c-titin that are associated with the actin stress fiber structures. + pmids: + - "17366640" + - text: The more compliant titin N2BA isoform predominates in hearts with dilated cardiomyopathy. Changes in titin isoform expression impact diastolic filling by lowering myocardial stiffness. Altered titin expression may affect cell signaling & gene expression. + pmids: + - "15238456" + - text: biophysical analysis of the end-to-end length of the transition state before unfolding and the measured contour length per amino acid of human titin + pmids: + - "17028145" + - text: C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopaty. + pmids: + - "17444505" + - text: "structural and functional studies of titin's fn3 modules reveal conserved surface patterns and binding to myosin S1--a possible role in the Frank-Starling mechanism of the heart" + pmids: + - "11800567" + - text: molecular mechanics of PEVK and N2B spring elements + pmids: + - "11799131" + - text: the PEVK segment contains E-rich motifs that render titin a calcium-dependent molecular spring that adapts to the physiological state of the cell + pmids: + - "14593205" + - text: "Tibial muscular dystrophy is a titinopathy caused by mutations in TTN, the gene encoding the giant skeletal-muscle protein titin." + pmids: + - "12145747" + - text: Titin plays a signaling role in targeting and orienting nebulin during sarcomere assembly + pmids: + - "12482578" + - text: mutation in the titin kinase domain disrupts nbr1 binding and leads to hereditary muscle disease + pmids: + - "15802564" + - text: adjacent domains in the I-band have very different kinetic properties which undergo only small changes in the presence of neighbouring domains; titin I-band behaves as the sum of its parts + pmids: + - "11812150" + - text: interaction of two N-terminal immunoglobulin with hydrophilic domain of small ankyrin-1 + pmids: + - "12444090" + - text: The behavior of the I27 domain of titin and its serial repeats is contrasted to that of simple secondary structures at various temperatures. + pmids: + - "15211512" + - text: Association of titin and myosin with microtubules in nascent myofibrils directed by MURF2 + pmids: + - "12414993" + - text: Titin PEVK conformation is malleable and responds to subtle environmental changes without co-operativity; this gradual conformational transition may represent a regulatory mechanism for fine-tuning protein interactions and elasticity. + pmids: + - "12816538" + - text: "alphaB-crystallin bound in the position of the N2B region of titin, but not to PEVK region" + pmids: + - "14676215" + - text: "PEVK exons encode polypeptides of similar elastic properties, unrelated to their total PEVK contents and hence, alternative splicing solely adjusts the length of the PEVK domain of titin." + pmids: + - "15632200" + - text: Results suggest that the C-terminus of nuclear titin binds lamins A and B in vivo and might contribute to nuclear organization during interphase. + pmids: + - "16410549" + - text: "The titin Z1Z2-telethonin complex resist considerable mechanical force through beta strand crosslinking, suggesting that telethonin is an important component of the N-terminal titin anchor." + pmids: + - "16531234" + - text: "A dimer of two titin/telethonin complexes is formed within the crystal environment, potentially indicating the formation of higher oligomers." + pmids: + - "16713295" + - text: Mitotic spindle staining with antititin antibodies is due to the association of titin or a titin-like molecule with this structure. + pmids: + - "11746675" + - text: "protein engineering and single-molecule AFM examination of mechanical components that form elastic region of human cardiac titin; when these mechanical elements are combined, they explain the macroscopic behaviour of titin in intact muscle" + pmids: + - "12198551" + - text: The cDNA sequence of cardiac TTN isoform was determined. No differences were found between the N2B PRVK lengths in heart muscle. New N2BA splicing pathways in the first tandem Ig region were found. PEVK exon expression was also different. + pmids: + - "12785098" + - text: Cardiomyopathy-associated point mutations in titin affect its binding to FHL2 protein. Altered recruitment of metabolic enzymes to the sarcomere via FHL2 may play a role in the pathogenesis of cardiomyopathies. + pmids: + - "16465475" + - text: "The PEVK segment of titin is not a simple entropic spring as is commonly assumed, but a highly evolved, gel-like enthalpic spring with its elasticity dominated by the sequence-specific charge interactions." + pmids: + - "16465472" + - text: Titin mutations as the molecular basis for dilated cardiomyopathy + pmids: + - "11846417" + - text: expression of titin isoforms switch in ischemic human heart disease + pmids: + - "12221049" + - text: "summary of the Ig and Fn3 domains of titin [review]" + pmids: + - "15322090" + - text: "Both control & dilated cardiomyopathy hearts coexpressed smaller (~ 3 MDa) N2B-isoform & longer (3.20 to 3.35 MDa) N2BA-isoforms. The average N2BA:N2B-ratio shifted from ~ 30:70 in controls to 42:58 in DCM, due to more N2BA-isoforms >3.30 MDa." + pmids: + - "15345656" + - text: Mutations in titin may account for a significant portion of the genetic etiology in familial DCM. + pmids: + - "16733766" + - text: titin is a good candidate gene on chromosome 2q31.1 for the SV50 training response in white HERITAGE families + pmids: + - "12865504" + - text: analysis of actin binding along the PEVK domain of skeletal muscle titin + pmids: + - "15507486" + - text: the importance of p94-connectin interaction in the control of p94 functions by regulating autolytic decay of p94 + pmids: + - "16627476" + - text: This suggests that the titin Z2-Zis1 domain can link filamins and alpha-actinin together in the periphery of the Z-line/dense bodies in a fashion that is conserved in smooth and striated muscles. + pmids: + - "16949617" + - text: Molecular modeling is used to characterize the reversible unfolding of titin immunoglobulin domains I27 and I1. + pmids: + - "12785101" + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap new file mode 100644 index 00000000..6b3f7dd1 --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_clingen_record.snap @@ -0,0 +1,355 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- gene_symbol: A4GALT + ncbi_gene_id: "53947" + genomic_location: "chr22:43088121-43117307" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ +- gene_symbol: AAGAB + ncbi_gene_id: "79719" + genomic_location: "chr15:67493013-67547536" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0007858" + triplosensitivity_disease_id: ~ +- gene_symbol: AARS1 + ncbi_gene_id: "16" + genomic_location: "chr16:70286297-70323412" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ +- gene_symbol: AARS2 + ncbi_gene_id: "57505" + genomic_location: "chr6:44266463-44281063" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0014387" + triplosensitivity_disease_id: ~ +- gene_symbol: AASS + ncbi_gene_id: "10157" + genomic_location: "chr7:121713598-121784344" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0009388" + triplosensitivity_disease_id: ~ +- gene_symbol: ABAT + ncbi_gene_id: "18" + genomic_location: "chr16:8768444-8878432" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0013166" + triplosensitivity_disease_id: ~ +- gene_symbol: ABCB11 + ncbi_gene_id: "8647" + genomic_location: "chr2:169779449-169887833" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0011156" + triplosensitivity_disease_id: ~ +- gene_symbol: ABCC8 + ncbi_gene_id: "6833" + genomic_location: "chr11:17414432-17498392" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009734" + triplosensitivity_disease_id: ~ +- gene_symbol: ABCD1 + ncbi_gene_id: "215" + genomic_location: "chrX:152990323-153010216" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0018544" + triplosensitivity_disease_id: ~ +- gene_symbol: ABCG5 + ncbi_gene_id: "64240" + genomic_location: "chr2:44039611-44065958" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0020747" + triplosensitivity_disease_id: ~ +- gene_symbol: ABCG8 + ncbi_gene_id: "64241" + genomic_location: "chr2:44066103-44105605" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0020747" + triplosensitivity_disease_id: ~ +- gene_symbol: ABHD12 + ncbi_gene_id: "26090" + genomic_location: "chr20:25275379-25371618" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0012984" + triplosensitivity_disease_id: ~ +- gene_symbol: ABR + ncbi_gene_id: "29" + genomic_location: "chr17:906758-1132974" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ +- gene_symbol: ABRAXAS1 + ncbi_gene_id: "84142" + genomic_location: "chr4:84382092-84406331" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ +- gene_symbol: ACAD8 + ncbi_gene_id: "27034" + genomic_location: "chr11:134123434-134135749" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0012648" + triplosensitivity_disease_id: ~ +- gene_symbol: ACADM + ncbi_gene_id: "34" + genomic_location: "chr1:76190032-76229364" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0008721" + triplosensitivity_disease_id: ~ +- gene_symbol: ACADSB + ncbi_gene_id: "36" + genomic_location: "chr10:124768429-124817806" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0012392" + triplosensitivity_disease_id: ~ +- gene_symbol: ACADVL + ncbi_gene_id: "37" + genomic_location: "chr17:7120444-7128586" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0008723" + triplosensitivity_disease_id: ~ +- gene_symbol: ACD + ncbi_gene_id: "65057" + genomic_location: "chr16:67691415-67694718" + haploinsufficiency_score: 1 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ +- gene_symbol: ACOX1 + ncbi_gene_id: "51" + genomic_location: "chr17:73937588-73975515" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009919" + triplosensitivity_disease_id: ~ +- gene_symbol: ACP5 + ncbi_gene_id: "54" + genomic_location: "chr19:11685475-11689823" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0011939" + triplosensitivity_disease_id: ~ +- gene_symbol: ACSF3 + ncbi_gene_id: "197322" + genomic_location: "chr16:89160217-89222254" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0013661" + triplosensitivity_disease_id: ~ +- gene_symbol: ACSL4 + ncbi_gene_id: "2182" + genomic_location: "chrX:108884559-108976632" + haploinsufficiency_score: 1 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0010313" + triplosensitivity_disease_id: ~ +- gene_symbol: ACTA2 + ncbi_gene_id: "59" + genomic_location: "chr10:90694831-90751154" + haploinsufficiency_score: 1 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ +- gene_symbol: ACTB + ncbi_gene_id: "60" + genomic_location: "chr7:5566779-5570232" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0000508" + triplosensitivity_disease_id: ~ +- gene_symbol: ACTC1 + ncbi_gene_id: "70" + genomic_location: "chr15:35080297-35087927" + haploinsufficiency_score: 1 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: ~ + triplosensitivity_disease_id: ~ +- gene_symbol: ACTL6B + ncbi_gene_id: "51412" + genomic_location: "chr7:100240720-100254084" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0100062" + triplosensitivity_disease_id: ~ +- gene_symbol: ACVRL1 + ncbi_gene_id: "94" + genomic_location: "chr12:52301202-52317145" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0010880" + triplosensitivity_disease_id: ~ +- gene_symbol: ADA2 + ncbi_gene_id: "51816" + genomic_location: "chr22:17659680-17702744" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0014306" + triplosensitivity_disease_id: ~ +- gene_symbol: ADAM9 + ncbi_gene_id: "8754" + genomic_location: "chr8:38854505-38962780" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0013002" + triplosensitivity_disease_id: ~ +- gene_symbol: ADAMTS13 + ncbi_gene_id: "11093" + genomic_location: "chr9:136279459-136324525" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0010122" + triplosensitivity_disease_id: ~ +- gene_symbol: ADAMTS17 + ncbi_gene_id: "170691" + genomic_location: "chr15:100511643-100882210" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0013176" + triplosensitivity_disease_id: ~ +- gene_symbol: ADAMTS18 + ncbi_gene_id: "170692" + genomic_location: "chr16:77316025-77469011" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0014195" + triplosensitivity_disease_id: ~ +- gene_symbol: ADAMTS2 + ncbi_gene_id: "9509" + genomic_location: "chr5:178537852-178772431" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009161" + triplosensitivity_disease_id: ~ +- gene_symbol: ADAMTSL2 + ncbi_gene_id: "9719" + genomic_location: "chr9:136397286-136440641" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009269" + triplosensitivity_disease_id: ~ +- gene_symbol: ADGRG1 + ncbi_gene_id: "9289" + genomic_location: "chr16:57653605-57698951" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0011738" + triplosensitivity_disease_id: ~ +- gene_symbol: ADGRV1 + ncbi_gene_id: "84059" + genomic_location: "chr5:89854617-90460033" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0016484" + triplosensitivity_disease_id: ~ +- gene_symbol: ADNP + ncbi_gene_id: "23394" + genomic_location: "chr20:49505455-49547750" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0014379" + triplosensitivity_disease_id: ~ +- gene_symbol: ADSL + ncbi_gene_id: "158" + genomic_location: "chr22:40742504-40762752" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0007068" + triplosensitivity_disease_id: ~ +- gene_symbol: AFF2 + ncbi_gene_id: "2334" + genomic_location: "chrX:147582139-148082193" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0010659" + triplosensitivity_disease_id: ~ +- gene_symbol: AGA + ncbi_gene_id: "175" + genomic_location: "chr4:178351928-178363657" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0008830" + triplosensitivity_disease_id: ~ +- gene_symbol: AGK + ncbi_gene_id: "55750" + genomic_location: "chr7:141251078-141354209" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0008922" + triplosensitivity_disease_id: ~ +- gene_symbol: AGPAT2 + ncbi_gene_id: "10555" + genomic_location: "chr9:139567595-139581911" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0012071" + triplosensitivity_disease_id: ~ +- gene_symbol: AGRN + ncbi_gene_id: "375790" + genomic_location: "chr1:955503-991499" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0014052" + triplosensitivity_disease_id: ~ +- gene_symbol: AGT + ncbi_gene_id: "183" + genomic_location: "chr1:230838269-230850336" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0009970" + triplosensitivity_disease_id: ~ +- gene_symbol: AGTR2 + ncbi_gene_id: "186" + genomic_location: "chrX:115301958-115306225" + haploinsufficiency_score: 0 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0010454" + triplosensitivity_disease_id: ~ +- gene_symbol: AGXT + ncbi_gene_id: "189" + genomic_location: "chr2:241808162-241818536" + haploinsufficiency_score: 30 + triplosensitivity_score: ~ + haploinsufficiency_disease_id: "MONDO:0009823" + triplosensitivity_disease_id: ~ +- gene_symbol: AHCY + ncbi_gene_id: "191" + genomic_location: "chr20:32868071-32899608" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0013404" + triplosensitivity_disease_id: ~ +- gene_symbol: AHDC1 + ncbi_gene_id: "27245" + genomic_location: "chr1:27860756-27930143" + haploinsufficiency_score: 3 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0014358" + triplosensitivity_disease_id: ~ +- gene_symbol: AHI1 + ncbi_gene_id: "54806" + genomic_location: "chr6:135605110-135818903" + haploinsufficiency_score: 30 + triplosensitivity_score: 0 + haploinsufficiency_disease_id: "MONDO:0012078" + triplosensitivity_disease_id: ~ + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap new file mode 100644 index 00000000..487c738f --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_dbnsfp_record.snap @@ -0,0 +1,302 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- gene_name: BRAF + ensembl_gene: ENSG00000157764 + chr: "7" + gene_old_names: "." + gene_other_names: BRAF1 + uniprot_acc: P15056 + uniprot_id: BRAF_HUMAN + entrez_gene_id: "673" + ccds_id: CCDS5863;CCDS87555 + refseq_id: NM_004333;NM_001354609 + ucsc_id: uc003vwc.5 + mim_id: "164757" + omim_id: "164757" + gene_full_name: "B-Raf proto-oncogene, serine/threonine kinase" + pathway_uniprot: "." + pathway_biocarta_short: mapkPathway + pathway_biocarta_full: MAPKinase Signaling Pathway + pathway_consensus_path_db: "Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);Focal adhesion - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Melanoma - Homo sapiens (human);Cushing,s syndrome - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Long-term depression - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Prostate cancer - Homo sapiens (human);cAMP signaling pathway - Homo sapiens (human);Vascular smooth muscle contraction - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;Intracellular Signalling Through Adenosine Receptor A2b and Adenosine;Intracellular Signalling Through Adenosine Receptor A2a and Adenosine;EGF-Core;Integrin-mediated Cell Adhesion;Human Thyroid Stimulating Hormone (TSH) signaling pathway;Signaling Pathways in Glioblastoma;B Cell Receptor Signaling Pathway;Corticotropin-releasing hormone signaling pathway;Integrated Lung Cancer Pathway;Polycystic Kidney Disease Pathway;Bladder Cancer;Focal Adhesion;BDNF-TrkB Signaling;MAPK Signaling Pathway;Chemokine signaling pathway;ESC Pluripotency Pathways;Endometrial cancer;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;Senescence and Autophagy in Cancer;Estrogen signaling pathway;Serotonin HTR1 Group and FOS Pathway;Serotonin Receptor 4-6-7 and NR3C Signaling;Negative regulation of FGFR2 signaling;Signaling by FGFR2;MAP2K and MAPK activation;RAF activation;Disease;Negative regulation of FGFR3 signaling;Signaling by FGFR3;Signal Transduction;Negative regulation of FGFR4 signaling;Signaling by FGFR4;Signaling by FGFR;Spry regulation of FGF signaling;B cell receptor signaling;GPCR Adenosine A2A receptor;GPCR GroupI metabotropic glutamate receptor;GPCR signaling-G alpha q;CD4 T cell receptor signaling-ERK cascade;ARMS-mediated activation;IGF signaling;FGF;Negative feedback regulation of MAPK pathway;Neuronal System;GPCR signaling-G alpha s Epac and ERK;Signalling to p38 via RIT and RIN;IL-7 signaling;GPCR signaling-G alpha s PKA and ERK;Frs2-mediated activation;Prolonged ERK activation events;Signalling to ERKs;Signaling by NTRK1 (TRKA);Integrin;Signaling by NTRKs;EGFR1;Ras signaling in the CD4+ TCR pathway;ErbB1 downstream signaling;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;NGF;EPO signaling;Neurotransmitter receptors and postsynaptic signal transmission;Transmission across Chemical Synapses;CREB phosphorylation through the activation of Ras;Post NMDA receptor activation events;Activation of NMDA receptor and postsynaptic events;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;VEGF;Signaling by high-kinase activity BRAF mutants;Signaling by moderate kinase activity BRAF mutants;Paradoxical activation of RAF signaling by kinase inactive BRAF;mTOR signaling pathway;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;CDC42 signaling events;Downstream signaling in naïve CD8+ T cells;Signaling events mediated by focal adhesion kinase;PDGFR-beta signaling pathway;Trk receptor signaling mediated by the MAPK pathway;Signaling events mediated by VEGFR1 and VEGFR2;Negative regulation of FGFR1 signaling;Signaling by FGFR1;CD4 T cell receptor signaling" + pathway_kegg_id: hsa04010;hsa04012;hsa04150;hsa04510;hsa04650;hsa04720;hsa04730;hsa04810;hsa04910;hsa05210;hsa05211;hsa05212;hsa05213;hsa05214;hsa05215;hsa05216;hsa05218;hsa05219;hsa05220;hsa05221;hsa05223 + pathway_kegg_full: MAPK signaling pathway;ErbB signaling pathway;mTOR signaling pathway;Focal adhesion;Natural killer cell mediated cytotoxicity;Long-term potentiation;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer + function_description: "FUNCTION: Protein kinase involved in the transduction of mitogenic signals from the cell membrane to the nucleus. May play a role in the postsynaptic responses of hippocampal neuron. Phosphorylates MAP2K1, and thereby contributes to the MAP kinase signal transduction pathway. {ECO:0000269|PubMed:21441910}." + disease_description: "DISEASE: Note=Defects in BRAF are found in a wide range of cancers. {ECO:0000269|PubMed:18974108}.;DISEASE: Colorectal cancer (CRC) [MIM:114500]: A complex disease characterized by malignant lesions arising from the inner wall of the large intestine (the colon) and the rectum. Genetic alterations are often associated with progression from premalignant lesion (adenoma) to invasive adenocarcinoma. Risk factors for cancer of the colon and rectum include colon polyps, long-standing ulcerative colitis, and genetic family history. {ECO:0000269|PubMed:12198537, ECO:0000269|PubMed:21917714, ECO:0000269|PubMed:23263490, ECO:0000269|PubMed:24455489}. Note=The disease may be caused by mutations affecting the gene represented in this entry.;DISEASE: Lung cancer (LNCR) [MIM:211980]: A common malignancy affecting tissues of the lung. The most common form of lung cancer is non-small cell lung cancer (NSCLC) that can be divided into 3 major histologic subtypes: squamous cell carcinoma, adenocarcinoma, and large cell lung cancer. NSCLC is often diagnosed at an advanced stage and has a poor prognosis. {ECO:0000269|PubMed:12460919}. Note=The gene represented in this entry is involved in disease pathogenesis.;DISEASE: Familial non-Hodgkin lymphoma (NHL) [MIM:605027]: Cancer that starts in cells of the lymph system, which is part of the body's immune system. NHLs can occur at any age and are often marked by enlarged lymph nodes, fever and weight loss. {ECO:0000269|PubMed:14612909}. Note=The gene represented in this entry is involved in disease pathogenesis.;DISEASE: Cardiofaciocutaneous syndrome 1 (CFC1) [MIM:115150]: A multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. {ECO:0000269|PubMed:16439621, ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:18042262, ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Noonan syndrome 7 (NS7) [MIM:613706]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: LEOPARD syndrome 3 (LPRD3) [MIM:613707]: A disorder characterized by lentigines, electrocardiographic conduction abnormalities, ocular hypertelorism, pulmonic stenosis, abnormalities of genitalia, retardation of growth, and sensorineural deafness. {ECO:0000269|PubMed:19206169}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=A chromosomal aberration involving BRAF is found in pilocytic astrocytomas. A tandem duplication of 2 Mb at 7q34 leads to the expression of a KIAA1549-BRAF fusion protein with a constitutive kinase activity and inducing cell transformation. {ECO:0000269|PubMed:18974108}." + mim_phenotype_id: 114500;115150;211980;605027;613706;613707 + mim_disease: "[MIM:114500]Colorectal cancer;[MIM:211980]Lung cancer;[MIM:605027]Familial non-Hodgkin lymphoma;[MIM:115150]Cardiofaciocutaneous syndrome 1;[MIM:613706]Noonan syndrome 7;[MIM:613707]LEOPARD syndrome 3" + orphanet_disorder_id: 648;146;500;1340;251615;251615;357191;357194;58017;54595;99872 + orphanet_disorder: Noonan syndrome;Differentiated thyroid carcinoma;Noonan syndrome with multiple lentigines;Cardiofaciocutaneous syndrome;Pilomyxoid astrocytoma;Pilomyxoid astrocytoma;Selection of therapeutic option in non-small cell lung carcinoma;Selection of therapeutic option in colorectal cancer;Classic hairy cell leukemia;Craniopharyngioma;Hashimoto-Pritzker syndrome + orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (gain of function) in;Disease-causing somatic mutation(s) in;Part of a fusion gene in;Biomarker tested in;Biomarker tested in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in + trait_association_gwas: "Mild influenza (H1N1) infection[26379185];Type 2 diabetes[28869590;28869590];Cerebrospinal T-tau levels[26252872];Cerebrospinal fluid t-tau:AB1-42 ratio[26252872];Response to Vitamin E supplementation[22437554]" + hpo_id: "HP:0000465;HP:0000316;HP:0003006;HP:0000508;HP:0001634;HP:0010318;HP:0006695;HP:0008625;HP:0003298;HP:0002650;HP:0002617;HP:0000768;HP:0000144;HP:0007392;HP:0100542;HP:0001608;HP:0001263;HP:0001641;HP:0000974;HP:0011710;HP:0000767;HP:0001003;HP:0000028;HP:0004322;HP:0001658;HP:0000912;HP:0001511;HP:0002863;HP:0000047;HP:0001480;HP:0001482;HP:0001639;HP:0001642;HP:0002861;HP:0004306;HP:0000431;HP:0004414;HP:0011675;HP:0000248;HP:0000995;HP:0000368;HP:0001256;HP:0003691;HP:0000325;HP:0000238;HP:0000545;HP:0006191;HP:0001004;HP:0000637;HP:0000974;HP:0004422;HP:0000504;HP:0200102;HP:0000293;HP:0000316;HP:0000028;HP:0008070;HP:0000343;HP:0000391;HP:0002857;HP:0000348;HP:0000958;HP:0000276;HP:0000256;HP:0001654;HP:0000982;HP:0001639;HP:0008064;HP:0001252;HP:0002213;HP:0000508;HP:0005280;HP:0000470;HP:0007565;HP:0000463;HP:0002650;HP:0004322;HP:0008872;HP:0001582;HP:0002217;HP:0001048;HP:0000400;HP:0002120;HP:0010669;HP:0002299;HP:0001531;HP:0001263;HP:0000767;HP:0001622;HP:0000639;HP:0000486;HP:0002997;HP:0001249;HP:0001631;HP:0007392;HP:0000176;HP:0000494;HP:0000286;HP:0002967;HP:0012719;HP:0000465;HP:0003196;HP:0000126;HP:0001642;HP:0100840;HP:0000218;HP:0001260;HP:0009891;HP:0001003;HP:0007440;HP:0002007;HP:0002353;HP:0000368;HP:0002162;HP:0008391;HP:0000648;HP:0000280;HP:0001428;HP:0006519;HP:0000006;HP:0000007;HP:0010807;HP:0000463;HP:0001047;HP:0000194;HP:0001631;HP:0000520;HP:0000494;HP:0001249;HP:0001252;HP:0004322;HP:0008064;HP:0008113;HP:0002002;HP:0000639;HP:0000962;HP:0004209;HP:0009891;HP:0002217;HP:0007333;HP:0001290;HP:0003196;HP:0000689;HP:0011220;HP:0001250;HP:0000316;HP:0000767;HP:0001003;HP:0000286;HP:0009908;HP:0000268;HP:0000657;HP:0000369;HP:0007370;HP:0000938;HP:0001276;HP:0002120;HP:0008070;HP:0001642;HP:0005280;HP:0000768;HP:0001508;HP:0000126;HP:0008872;HP:0000414;HP:0001744;HP:0000341;HP:0002212;HP:0000486;HP:0002013;HP:0000545;HP:0001187;HP:0000508;HP:0000006;HP:0000238;HP:0001639;HP:0006114;HP:0000529;HP:0100703;HP:0001048;HP:0001622;HP:0000218;HP:0003477;HP:0000280;HP:0002020;HP:0000176;HP:0000358;HP:0000365;HP:0032152;HP:0000561;HP:0003577;HP:0001093;HP:0002019;HP:0001561;HP:0002223;HP:0000164;HP:0004482;HP:0000347;HP:0002750;HP:0002750;HP:0000369;HP:0000962;HP:0000470;HP:0001319;HP:0001646;HP:0007565;HP:0000006;HP:0001249;HP:0001633;HP:0001054;HP:0100543;HP:0000358;HP:0000407;HP:0000914;HP:0001250;HP:0000465;HP:0000316;HP:0001636;HP:0002212;HP:0004322;HP:0001003;HP:0005280;HP:0001249;HP:0001262;HP:0002637;HP:0001658;HP:0002516;HP:0008897;HP:0010939;HP:0001085;HP:0001259;HP:0000365;HP:0000823;HP:0002659;HP:0002719;HP:0002591;HP:0010576;HP:0012505;HP:0002315;HP:0011734;HP:0007987;HP:0002321;HP:0005978;HP:0030588;HP:0011750;HP:0002017;HP:0007924;HP:0012286;HP:0000044;HP:0430000;HP:0000870;HP:0008245;HP:0001513;HP:0001117;HP:0001250;HP:0002514;HP:0001263;HP:0000863;HP:0010535;HP:0030521;HP:0000238;HP:0000648;HP:0003508;HP:0001290;HP:0011470;HP:0004322;HP:0000369;HP:0001252;HP:0000268;HP:0005280;HP:0001520;HP:0000470;HP:0001250;HP:0011220;HP:0002967;HP:0012059;HP:0000341;HP:0000975;HP:0000465;HP:0000914;HP:0012471;HP:0009748;HP:0000494;HP:0000391;HP:0000768;HP:0030939;HP:0031162;HP:0000006;HP:0002033;HP:0001249;HP:0000306;HP:0006191;HP:0002162;HP:0008872;HP:0000316;HP:0001054;HP:0000486;HP:0000767;HP:0000953;HP:0000768;HP:0100543;HP:0002212;HP:0001382;HP:0002015;HP:0001642;HP:0000256;HP:0001642;HP:0002031;HP:0001631;HP:0000953;HP:0002650;HP:0001631;HP:0002650;HP:0001531;HP:0000508;HP:0000470;HP:0001156;HP:0000914;HP:0002664;HP:0003251;HP:0001680;HP:0002751;HP:0001642;HP:0000218;HP:0000325;HP:0004322;HP:0000028;HP:0001643;HP:0002967;HP:0000316;HP:0000006;HP:0000494;HP:0000917;HP:0000407;HP:0000286;HP:0002705;HP:0000915;HP:0000925;HP:0001004;HP:0001629;HP:0000476;HP:0000465;HP:0001249;HP:0100697;HP:0000545;HP:0004841;HP:0000368;HP:0030084;HP:0000689;HP:0002162;HP:0100769;HP:0009466;HP:0000135;HP:0001631;HP:0008897;HP:0001892;HP:0004859;HP:0001639;HP:0001425;HP:0008357;HP:0000347" + hpo_name: "Webbed neck;Hypertelorism;Neuroblastoma;Ptosis;Mitral valve prolapse;Aplasia/Hypoplasia of the abdominal wall musculature;Atrioventricular canal defect;Severe sensorineural hearing impairment;Spina bifida occulta;Scoliosis;Dilatation;Pectus carinatum;Decreased fertility;Excessive wrinkled skin;Abnormal localization of kidney;Abnormality of the voice;Global developmental delay;Abnormal pulmonary valve morphology;Hyperextensible skin;Bundle branch block;Pectus excavatum;Multiple lentigines;Cryptorchidism;Short stature;Myocardial infarction;Sprengel anomaly;Intrauterine growth retardation;Myelodysplasia;Hypospadias;Freckling;Subcutaneous nodule;Hypertrophic cardiomyopathy;Pulmonic stenosis;Melanoma;Abnormal endocardium morphology;Wide nasal bridge;Abnormality of the pulmonary artery;Arrhythmia;Brachycephaly;Melanocytic nevus;Low-set, posteriorly rotated ears;Intellectual disability, mild;Scapular winging;Triangular face;Hydrocephalus;Myopia;Deep palmar crease;Lymphedema;Long palpebral fissure;Hyperextensible skin;Biparietal narrowing;Abnormality of vision;Sparse or absent eyelashes;Full cheeks;Hypertelorism;Cryptorchidism;Sparse hair;Long philtrum;Thickened helices;Genu valgum;High forehead;Dry skin;Long face;Macrocephaly;Abnormal heart valve morphology;Palmoplantar keratoderma;Hypertrophic cardiomyopathy;Ichthyosis;Muscular hypotonia;Fine hair;Ptosis;Depressed nasal bridge;Short neck;Multiple cafe-au-lait spots;Anteverted nares;Scoliosis;Short stature;Feeding difficulties in infancy;Redundant skin;Slow-growing hair;Cavernous hemangioma;Macrotia;Cerebral cortical atrophy;Hypoplasia of the zygomatic bone;Brittle hair;Failure to thrive in infancy;Global developmental delay;Pectus excavatum;Premature birth;Nystagmus;Strabismus;Abnormality of the ulna;Intellectual disability;Atrial septal defect;Excessive wrinkled skin;Submucous cleft hard palate;Downslanted palpebral fissures;Epicanthus;Cubitus valgus;Functional abnormality of the gastrointestinal tract;Webbed neck;Short nose;Hydronephrosis;Pulmonic stenosis;Aplasia/Hypoplasia of the eyebrow;High palate;Dysarthria;Underdeveloped supraorbital ridges;Multiple lentigines;Generalized hyperpigmentation;Frontal bossing;EEG abnormality;Low-set, posteriorly rotated ears;Low posterior hairline;Dystrophic fingernails;Optic atrophy;Coarse facial features;Somatic mutation;Alveolar cell carcinoma;Autosomal dominant inheritance;Autosomal recessive inheritance;Open bite;Anteverted nares;Atopic dermatitis;Open mouth;Atrial septal defect;Proptosis;Downslanted palpebral fissures;Intellectual disability;Muscular hypotonia;Short stature;Ichthyosis;Multiple plantar creases;Deep philtrum;Nystagmus;Hyperkeratosis;Clinodactyly of the 5th finger;Underdeveloped supraorbital ridges;Slow-growing hair;Hypoplasia of the frontal lobes;Generalized hypotonia;Short nose;Dental malocclusion;Prominent forehead;Seizure;Hypertelorism;Pectus excavatum;Multiple lentigines;Epicanthus;Anterior creases of earlobe;Dolichocephaly;Oculomotor apraxia;Low-set ears;Aplasia/Hypoplasia of the corpus callosum;Osteopenia;Hypertonia;Cerebral cortical atrophy;Sparse hair;Pulmonic stenosis;Depressed nasal bridge;Pectus carinatum;Failure to thrive;Hydronephrosis;Feeding difficulties in infancy;Bulbous nose;Splenomegaly;Narrow forehead;Curly hair;Strabismus;Vomiting;Myopia;Hyperextensibility of the finger joints;Ptosis;Autosomal dominant inheritance;Hydrocephalus;Hypertrophic cardiomyopathy;Multiple palmar creases;Progressive visual loss;Tongue thrusting;Cavernous hemangioma;Premature birth;High palate;Peripheral axonal neuropathy;Coarse facial features;Gastroesophageal reflux;Submucous cleft hard palate;Posteriorly rotated ears;Hearing impairment;Keratosis pilaris;Absent eyelashes;Congenital onset;Optic nerve dysplasia;Constipation;Polyhydramnios;Absent eyebrow;Abnormality of the dentition;Relative macrocephaly;Micrognathia;Delayed skeletal maturation;Delayed skeletal maturation;Low-set ears;Hyperkeratosis;Short neck;Neonatal hypotonia;Abnormal aortic valve morphology;Multiple cafe-au-lait spots;Autosomal dominant inheritance;Intellectual disability;Abnormal mitral valve morphology;Numerous nevi;Cognitive impairment;Posteriorly rotated ears;Sensorineural hearing impairment;Shield chest;Seizure;Webbed neck;Hypertelorism;Tetralogy of Fallot;Curly hair;Short stature;Multiple lentigines;Depressed nasal bridge;Intellectual disability;Excessive daytime somnolence;Cerebral ischemia;Myocardial infarction;Increased intracranial pressure;Postnatal growth retardation;Abnormality of the nasal bone;Papilledema;Coma;Hearing impairment;Delayed puberty;Increased susceptibility to fractures;Recurrent infections;Polyphagia;Intracranial cystic lesion;Enlarged pituitary gland;Headache;Central adrenal insufficiency;Progressive visual field defects;Vertigo;Type II diabetes mellitus;Abnormal visual field test;Neoplasm of the anterior pituitary;Nausea and vomiting;Slow decrease in visual acuity;Abnormal hypothalamus morphology;Hypogonadotropic hypogonadism;Abnormality of the frontal bone;Increased circulating prolactin concentration;Pituitary hypothyroidism;Obesity;Sudden loss of visual acuity;Seizure;Cerebral calcification;Global developmental delay;Central diabetes insipidus;Sleep apnea;Bitemporal hemianopia;Hydrocephalus;Optic atrophy;Proportionate short stature;Generalized hypotonia;Nasogastric tube feeding in infancy;Short stature;Low-set ears;Muscular hypotonia;Dolichocephaly;Depressed nasal bridge;Large for gestational age;Short neck;Seizure;Prominent forehead;Cubitus valgus;Lentigo maligna melanoma;Narrow forehead;Hyperhidrosis;Webbed neck;Shield chest;Thick vermilion border;Large earlobe;Downslanted palpebral fissures;Thickened helices;Pectus carinatum;Palpebral thickening;Impaired oropharyngeal swallow response;Autosomal dominant inheritance;Poor suck;Intellectual disability;Abnormality of the chin;Deep palmar crease;Low posterior hairline;Feeding difficulties in infancy;Hypertelorism;Numerous nevi;Strabismus;Pectus excavatum;Hyperpigmentation of the skin;Pectus carinatum;Cognitive impairment;Curly hair;Joint hypermobility;Dysphagia;Pulmonic stenosis;Macrocephaly;Pulmonic stenosis;Abnormal esophagus morphology;Atrial septal defect;Hyperpigmentation of the skin;Scoliosis;Atrial septal defect;Scoliosis;Failure to thrive in infancy;Ptosis;Short neck;Brachydactyly;Shield chest;Neoplasm;Male infertility;Coarctation of aorta;Kyphoscoliosis;Pulmonic stenosis;High palate;Triangular face;Short stature;Cryptorchidism;Patent ductus arteriosus;Cubitus valgus;Hypertelorism;Autosomal dominant inheritance;Downslanted palpebral fissures;Superior pectus carinatum;Sensorineural hearing impairment;Epicanthus;High, narrow palate;Pectus excavatum of inferior sternum;Abnormality of the vertebral column;Lymphedema;Ventricular septal defect;Cystic hygroma;Webbed neck;Intellectual disability;Neurofibrosarcoma;Myopia;Reduced factor XII activity;Low-set, posteriorly rotated ears;Clinodactyly;Dental malocclusion;Low posterior hairline;Synovitis;Radial deviation of finger;Hypogonadism;Atrial septal defect;Postnatal growth retardation;Abnormal bleeding;Amegakaryocytic thrombocytopenia;Hypertrophic cardiomyopathy;Heterogeneous;Reduced factor XIII activity;Micrognathia" + go_biological_process: "MAPK cascade;activation of MAPKK activity;myeloid progenitor cell differentiation;protein phosphorylation;visual learning;animal organ morphogenesis;positive regulation of gene expression;negative regulation of fibroblast migration;positive regulation of glucose transmembrane transport;thyroid gland development;positive regulation of peptidyl-serine phosphorylation;somatic stem cell population maintenance;cellular response to drug;regulation of cell population proliferation;negative regulation of apoptotic process;CD4-positive, alpha-beta T cell differentiation;CD4-positive or CD8-positive, alpha-beta T cell lineage commitment;response to peptide hormone;negative regulation of neuron apoptotic process;regulation of T cell differentiation;thymus development;positive regulation of axon regeneration;positive regulation of axonogenesis;T cell receptor signaling pathway;protein heterooligomerization;positive regulation of stress fiber assembly;response to cAMP;long-term synaptic potentiation;head morphogenesis;face development;positive regulation of ERK1 and ERK2 cascade;trehalose metabolism in response to stress;cellular response to calcium ion;establishment of protein localization to membrane;positive regulation of substrate adhesion-dependent cell spreading;cellular response to nerve growth factor stimulus;negative regulation of synaptic vesicle exocytosis;negative regulation of endothelial cell apoptotic process" + go_cellular_component: nucleus;mitochondrion;cytosol;plasma membrane;neuron projection;intracellular membrane-bounded organelle;cell body + go_molecular_function: protein kinase activity;protein serine/threonine kinase activity;MAP kinase kinase kinase activity;calcium ion binding;protein binding;ATP binding;small GTPase binding;mitogen-activated protein kinase kinase binding;identical protein binding;protein heterodimerization activity + tissue_specificity_uniprot: Brain and testis. + expression_egenetics: amygdala;spleen;liver;stomach;germinal center;testis;brain;unclassifiable (Anatomical System);lung;thyroid;whole body;frontal lobe;head and neck;placenta;islets of Langerhans + expression_gnf_atlas: pons;ciliary ganglion;dorsal root ganglion;atrioventricular node;superior cervical ganglion;trigeminal ganglion;testis + interactions_intact: "YWHAE[17979178];HSP90AB1[17979178;22939624];YWHAB[15324660;12620389;17353931;24255178];ARAF[17979178;25241761;20130576];HSD17B3[24412244];CTSV[24412244];IQGAP1[17563371];TIMM50[12620389];NRAS[21478863];YWHAQ[15324660;17353931;17979178];RPS6KA2[16810323];AKT1[25241761];OIP5[12620389];SFN[15778465];PAK2[20936779];HRAS[24441586;26165597];YWHAG[15324660;17353931;17979178];YWHAH[17979178];MAPK3[25241761];ZNF189[24412244];HSPA9[17979178];HSPA8[17979178];MAP2K1[17979178;24746704;25155755;25600339;26496610;23934108;25437913];MAP3K1[16810323;16888650];MAP2K2[17979178;24746704;25600339];HSPA5[17979178];KSR1[22510884];PRKCE[16810323];LIMK1[17979178];PRKCA[16810323];BRAF[16858395;22169110;22510884;25155755;19727074;25437913];PHKB[17979178];KSR2[22510884];TERF1[20936779];YWHAZ[15324660;17353931;15161933;17979178;26496610];CCDC88A[20936779];MAPKAPK3[24412244];TRAF3[23153539];CDC37[17979178];RAF1[20141835;22169110;22510884;23680146;25155755;20130576;23934108;26466569];FBP1[24412244];ZNF510[24412244];HSPA1A[17979178]" + interactions_biogrid: "ARAF[17979178;25241761;28514442;28628118];KIAA0141[28514442];EPRS[27684187];IGF1R[27684187];LIPF[26186194;28514442];RASSF1[28628118];STK11[28628118];FNTA[28319113];AKT1[10869359;25241761;28628118];CPNE3[27034005];PIP4K2C[27034005];MAP2K3[28628118];MAP2K1[16888650;20212043;18332145;16810323;17979178;26496610;28514442;19371126;26627737;27034005;27684187];MAP2K2[17979178;28514442;27034005];FKBPL[28514442];FBXW7[26898828];PRKCE[16810323];ARMCX3[28514442];CDC37[17979178;27034005;27684187];DNAJB11[27034005];RAF1[11325826;20212043;18332145;23153539;28514442];FKBP5[27034005];COPA[27034005];HSPA4L[27034005];NEDD4L[19953087];IQGAP1[18567582;27034005;27684187];PHB[27034005];RAP1GAP[11278445];HSP90B1[27034005];PLD2[27034005];RAP1B[27034005];HSD11B2[27034005];PRDX2[27684187];RAP1A[10454553;16507992];PDCD11[27034005];TERT[28628118];PIP5K1A[27034005];SFN[15778465;27034005;28628118;27684187];MAP2K7[27034005];MAP2K6[28628118];BRAP[18332145];HSPA9[17979178;27684187];HSPA8[17979178;27684187];HSPA5[17979178;27034005;27684187];JUP[27684187];HSPA4[27034005];DNAJC11[27034005];BRAF[17979178;28628118];PHKB[17979178];DNAJC13[27034005];DNAJC15[27034005];VANGL1[27034005];CCDC88A[20936779];CYLD[27591049];UBLCP1[27034005];FASN[27684187];GNAS[27034005];FARSA[27684187];FGFR2[28319113];YWHAE[17979178;28514442;27034005;27684187];MUS81[24104479];HSP90AB1[17979178;27684187];YWHAB[17353931;10931830;15324660;24255178;28514442;27034005;27684187];KCNC4[28514442];PTEN[28319113];HSPB1[27684187];BRCA2[28319113];RPTOR[28514442];PPP6C[27684187];YWHAQ[17353931;18332145;17979178;28514442;27034005;27684187];WDR6[27034005];HRAS[9154803;7706312;28514442;27034005;28628118];YWHAG[17353931;15324660;17979178;28514442;27034005;28628118;27684187];YWHAH[17979178;28514442;27034005];HSP90AA1[22939624;27034005;27684187];KSR1[18332145];PARP1[27684187];PGAM1[27034005];MYOF[27034005];NME2[27684187];TERF1[20936779];YWHAZ[17353931;15324660;17979178;26496610;28514442;27034005;28628118;27684187];MRAS[12138204];LATS2[28628118];PIK3CA[28319113];ALDOA[27684187];RAB1A[27684187];HDAC2[28319113];ATP5A1[27684187];EGFR[28319113];GNAI2[27034005];AURKA[28628118];PPP2CB[27034005];NRAS[7499408;27034005;9368069];DNAJB6[27034005];MAPK1[18567582;26627737;26285778];VHL[28319113];FNIP1[27353360];CCT7[27684187];PAK2[20936779];FNIP2[27353360];MAPK3[10869359;25241761];SSB[27684187];BAD[19667065];LIMK1[17979178];AP2B1[27684187];PPP1CA[27034005];DNAJA1[27034005];RAD50[27034005];RNF149[22628551];RPS6KB2[16810323;25324306];SPRY2[19690147];KRAS[28514442;27034005;28628118;27684187];VIM[27034005];RAB3GAP1[28514442];HSPA1A[17979178;27684187]" + interactions_consensus_path_db: "RAF1[0.999];IQGAP1[0.921];KRAS[0.999];RHEB[0.996];MAP2K1[NA];BRAP[NA];KSR1[NA];HRAS[0.999];RB1[0.012];MAP2K1[0.999];MAP2K1[NA];KSR1[NA];RAF1[NA];ARAF[NA];ARAF[0.238];NRAS[0.999];MAP2K1[NA];RAF1[NA];PRKCE[0.997];MAP3K1[0.999];RPS6KA2[0.992];YWHAB[0.997];YWHAQ[0.999];YWHAZ[0.999];PRKCA[0.999];SFN[0.851];YWHAG[0.982];OIP5[0.413];MRAS[0.999];SGK1[0.987];PRKACA[0.999];RPS6KB2[NA];PRKCE[NA];YWHAH[0.953];YWHAQ[NA];RAP1GAP[NA];EGFR[NA];CRK[NA];RAPGEF1[NA];FRS2[NA];RAP1GAP[NA];AKT1[0.999];MAP2K2[0.999];RAP1A[0.992];MAPK1[0.999];RAP1GAP[0.999];MAP2K1[NA];MAP2K2[NA];YWHAE[NA];RAF1[NA];MAP2K1[NA];YWHAE[NA];KSR1[NA];CNKSR1[0.978];YWHAZ[NA];RAF1[NA];PAK2[0.998];TERF1[0.532];CCDC88A[0.882];NEDD4L[0.604];RNF149[0.032];KSR1[0.928];BRAP[0.635];RPS6KB2[0.999];HSP90AA1[0.994];YWHAE[0.983];HSPA5[0.879];HSPA8[0.983];HSPA9[0.308];CDC37[0.982];HSP90AB1[0.989];PHKB[0.981];LIMK1[0.984];BAD[0.992];LIPF[0.005];MAPK3[0.999];FBXW7[0.966];FNIP1[0.976];FNIP2[0.978];RAB3GAP1[0.997];FKBPL[0.355];ARMCX3[0.034];KCNC4[0.629];RPTOR[0.965];CYLD[0.989];TIMM50[0.730];ZHX2[0.739];SGK2[0.078];SGK3[0.021];MAP4K1[0.094]" + haploinsufficiency: 0.95401 + hipred_score: 0.843373596668243 + hipred: Y + ghis: 0.558767686 + prec: "." + known_rec_info: "." + rvis_evs: -0.6 + rvis_percentile_evs: 17.75 + lof_fdr_exac: 0.0000945651 + rvis_exac: -0.965257977 + rvis_percentile_exac: 9.547617613 + exac_pli: 0.999978196041997 + exac_prec: 0.0000218039579639691 + exac_pnull: 0.0000000000000388216441101404 + exac_nontcga_pli: 0.999932334264256 + exac_nontcga_prec: 0.0000676657351324938 + exac_nontcga_pnull: 0.000000000000611297736772402 + exac_nonpsych_pli: 0.999983482649624 + exac_nonpsych_prec: 0.0000165173502566583 + exac_nonpsych_pnull: 0.000000000000118961221524589 + gnomad_pli: 0.993 + gnomad_prec: 0.0070031 + gnomad_pnull: 0.000000045462 + exac_del_score: 0.688066950627339 + exac_dup_score: 0.390309959550704 + exac_cnv_score: 0.592048309567109 + exac_cnv_flag: N + gdi: 63.2093 + gdi_phred: 1.62731 + gdp_all_disease_causing: Medium + gdp_all_mendelian: Medium + gdp_all_mendelian_ad: Medium + gdp_mendelian_ar: Medium + gdp_pid: Medium + gdp_pid_ad: Medium + gdp_pid_ar: Medium + gdp_cancer: Medium + gdb_cancer_rec: Medium + gdp_cancer_dom: Medium + loftool_score: 0.0212 + sorva_lof_maf_5_het_or_hom: 0 + sorva_lof_maf_5_hom_or_comphet: 0 + sorva_lof_maf_1_het_or_hom: 0 + sorva_lof_maf_1_hom_or_comphet: 0 + sorva_lof_or_mis_maf_5_het_or_hom: 0.0027955271565495207 + sorva_lof_or_mis_maf_5_hom_or_comphet: 0 + sorva_lof_or_mis_maf_1_het_or_hom: 0.0027955271565495207 + sorva_lof_or_mis_maf_1_hom_or_comphet: 0 + essential_gene: E + essential_gene_crispr: N + essential_gene_crispr2: S + essential_gene_gene_trap: K + gene_indispensability_score: 0.853134941017535 + gene_indispensability_pred: E + mgi_mouse_gene: Braf + mgi_mouse_phenotype: "liver/biliary system phenotype; respiratory system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); embryo phenotype; pigmentation phenotype; neoplasm; hematopoietic system phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); reproductive system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); vision/eye phenotype; digestive/alimentary phenotype; limbs/digits/tail phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); skeleton phenotype; renal/urinary system phenotype; immune system phenotype; homeostasis/metabolism phenotype; cellular phenotype; endocrine/exocrine gland phenotype; adipose tissue phenotype (the observable morphological and physiological characteristics of mammalian fat tissue that are manifested through development and lifespan); growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); craniofacial phenotype; muscle phenotype; " + zfin_zebrafish_gene: "." + zfin_zebrafish_structure: "." + zfin_zebrafish_phenotype_quality: "." + zfin_zebrafish_phenotype_tag: "." +- gene_name: KRAS + ensembl_gene: ENSG00000133703 + chr: "12" + gene_old_names: KRAS2 + gene_other_names: KRAS1 + uniprot_acc: P01116 + uniprot_id: RASK_HUMAN + entrez_gene_id: "3845" + ccds_id: CCDS8702;CCDS8703 + refseq_id: NM_004985;NM_033360 + ucsc_id: uc001rgp.3 + mim_id: "190070" + omim_id: "190070" + gene_full_name: "KRAS proto-oncogene, GTPase" + pathway_uniprot: "." + pathway_biocarta_short: telPathway + pathway_biocarta_full: "Telomeres, Telomerase, Cellular Aging, and Immortality" + pathway_consensus_path_db: "PI3K-Akt signaling pathway - Homo sapiens (human);Non-small cell lung cancer - Homo sapiens (human);Chronic myeloid leukemia - Homo sapiens (human);Gastric cancer - Homo sapiens (human);mTOR signaling pathway - Homo sapiens (human);Relaxin signaling pathway - Homo sapiens (human);Oxytocin signaling pathway - Homo sapiens (human);T cell receptor signaling pathway - Homo sapiens (human);B cell receptor signaling pathway - Homo sapiens (human);Fc epsilon RI signaling pathway - Homo sapiens (human);Kaposi,s sarcoma-associated herpesvirus infection - Homo sapiens (human);Renal cell carcinoma - Homo sapiens (human);VEGF signaling pathway - Homo sapiens (human);Long-term potentiation - Homo sapiens (human);Neurotrophin signaling pathway - Homo sapiens (human);Central carbon metabolism in cancer - Homo sapiens (human);Choline metabolism in cancer - Homo sapiens (human);Serotonergic synapse - Homo sapiens (human);Melanoma - Homo sapiens (human);AGE-RAGE signaling pathway in diabetic complications - Homo sapiens (human);Bladder cancer - Homo sapiens (human);Longevity regulating pathway - multiple species - Homo sapiens (human);Long-term depression - Homo sapiens (human);Acute myeloid leukemia - Homo sapiens (human);GnRH signaling pathway - Homo sapiens (human);Breast cancer - Homo sapiens (human);ErbB signaling pathway - Homo sapiens (human);Autophagy - animal - Homo sapiens (human);Gap junction - Homo sapiens (human);FoxO signaling pathway - Homo sapiens (human);Chemokine signaling pathway - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Regulation of actin cytoskeleton - Homo sapiens (human);Mitophagy - animal - Homo sapiens (human);Axon guidance - Homo sapiens (human);Thermogenesis - Homo sapiens (human);Signaling pathways regulating pluripotency of stem cells - Homo sapiens (human);Hepatocellular carcinoma - Homo sapiens (human);Glioma - Homo sapiens (human);Thyroid hormone signaling pathway - Homo sapiens (human);Prostate cancer - Homo sapiens (human);Longevity regulating pathway - Homo sapiens (human);Apelin signaling pathway - Homo sapiens (human);Estrogen signaling pathway - Homo sapiens (human);C-type lectin receptor signaling pathway - Homo sapiens (human);Aldosterone-regulated sodium reabsorption - Homo sapiens (human);Rap1 signaling pathway - Homo sapiens (human);Ras signaling pathway - Homo sapiens (human);MAPK signaling pathway - Homo sapiens (human);Natural killer cell mediated cytotoxicity - Homo sapiens (human);Sphingolipid signaling pathway - Homo sapiens (human);Phospholipase D signaling pathway - Homo sapiens (human);Proteoglycans in cancer - Homo sapiens (human);Prolactin signaling pathway - Homo sapiens (human);MicroRNAs in cancer - Homo sapiens (human);Pathways in cancer - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Hepatitis C - Homo sapiens (human);Hepatitis B - Homo sapiens (human);Apoptosis - Homo sapiens (human);Cellular senescence - Homo sapiens (human);Cholinergic synapse - Homo sapiens (human);Thyroid cancer - Homo sapiens (human);Pancreatic cancer - Homo sapiens (human);Endometrial cancer - Homo sapiens (human);Colorectal cancer - Homo sapiens (human);Alcoholism - Homo sapiens (human);Insulin signaling pathway - Homo sapiens (human);Melanogenesis - Homo sapiens (human);EGFR Inhibitor Pathway, Pharmacodynamics;Human papillomavirus infection - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Bisphosphonate Pathway, Pharmacodynamics;Pathway_PA165959425;Sorafenib Pharmacodynamics;Vemurafenib Pathway, Pharmacodynamics;update your name in edit mode;VEGF Signaling Pathway;Fc Epsilon Receptor I Signaling in Mast Cells;EGF-Core;IL-5 Signaling Pathway;Integrated Breast Cancer Pathway;Angiogenesis overview;miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;miR-targeted genes in muscle cell - TarBase;Signaling Pathways in Glioblastoma;RalA downstream regulated genes;TNF alpha Signaling Pathway;Oncostatin M Signaling Pathway;Aryl Hydrocarbon Receptor;Extracellular vesicle-mediated signaling in recipient cells;Rac1-Pak1-p38-MMP-2 pathway;G Protein Signaling Pathways;BDNF-TrkB Signaling;MAPK Signaling Pathway;PI3K-AKT-mTOR signaling pathway and therapeutic opportunities;Chemokine signaling pathway;Focal Adhesion-PI3K-Akt-mTOR-signaling pathway;miRNA regulation of prostate cancer signaling pathways;Endometrial cancer;PI3K-Akt Signaling Pathway;MET in type 1 papillary renal cell carcinoma;Chromosomal and microsatellite instability in colorectal cancer;MAPK Cascade;Ras Signaling;EMT transition in Colorectal Cancer;EGF-EGFR Signaling Pathway;Regulation of Actin Cytoskeleton;ErbB Signaling Pathway;DNA Damage Response (only ATM dependent);Serotonin Receptor 2 and ELK-SRF-GATA4 signaling;SHC1 events in ERBB2 signaling;Developmental Biology;Signaling by PTK6;Signaling by GPCR;FRS-mediated FGFR2 signaling;Signaling by FGFR2;Regulation of Ras family activation;MAP2K and MAPK activation;SHC-mediated cascade:FGFR2;FRS-mediated FGFR3 signaling;Downstream signaling of activated FGFR2;RAF activation;SHC-mediated cascade:FGFR3;Downstream signaling of activated FGFR3;Disease;Signaling by FGFR3;Signal Transduction;FRS-mediated FGFR4 signaling;Gene expression (Transcription);SHC-mediated cascade:FGFR4;Downstream signaling of activated FGFR4;DAP12 signaling;DAP12 interactions;Signaling by FGFR4;Signaling by FGFR;RUNX3 regulates p14-ARF;Transcriptional regulation by RUNX3;telomeres telomerase cellular aging and immortality;VEGFA-VEGFR2 Pathway;Generic Transcription Pathway;B cell receptor signaling;SOS-mediated signalling;IRS-mediated signalling;Insulin receptor signalling cascade;Signaling by Insulin receptor;Activation of RAS in B cells;Signaling by the B Cell Receptor (BCR);SHC1 events in EGFR signaling;Signaling by PDGF;CD4 T cell receptor signaling-ERK cascade;CD209 (DC-SIGN) signaling;C-type lectin receptors (CLRs);RNA Polymerase II Transcription;HGF;FCERI mediated MAPK activation;Fc epsilon receptor (FCERI) signaling;IGF signaling;Innate Immune System;Immune System;Regulation of RAS by GAPs;FGF;Signaling by FGFR2 in disease;Adaptive Immune System;insulin Mam;Downstream signaling events of B Cell Receptor (BCR);Signaling by EGFR;p38MAPK events;Signalling to RAS;Signalling to ERKs;Signaling by NTRK1 (TRKA);Integrin;Activated NTRK2 signals through RAS;Signaling by NTRK2 (TRKB);Signaling by NTRKs;EGFR1;SHP2 signaling;Tie2 Signaling;Ras signaling in the CD4+ TCR pathway;ErbB1 downstream signaling;Cell surface interactions at the vascular wall;Hemostasis;Negative regulation of MAPK pathway;RAF/MAP kinase cascade;MAPK1/MAPK3 signaling;MAPK family signaling cascades;JAK STAT pathway and regulation;PDGF;GRB2 events in ERBB2 signaling;EGFR Transactivation by Gastrin;NCAM signaling for neurite out-growth;NGF;PTK6 Regulates RHO GTPases, RAS GTPase and MAP kinases;Signaling by Non-Receptor Tyrosine Kinases;MAP kinase cascade;C-MYB transcription factor network;IL2-mediated signaling events;Downstream signal transduction;Class I PI3K signaling events;Signaling by EGFRvIII in Cancer;Signaling by EGFR in Cancer;Signaling by VEGF;GRB2 events in EGFR signaling;Signaling by FGFR3 point mutants in cancer;Signaling by FGFR4 in disease;Axon guidance;Signaling by FGFR3 fusions in cancer;Signaling by FGFR3 in disease;Signaling by SCF-KIT;Signaling by FGFR in disease;Signaling by ERBB2;SHC1 events in ERBB4 signaling;Signaling by ERBB4;SHC-related events triggered by IGF1R;IRS-related events triggered by IGF1R;IGF1R signaling cascade;MET activates RAS signaling;Signaling by FGFR1 in disease;Signaling by MET;Constitutive Signaling by EGFRvIII;Signaling by Receptor Tyrosine Kinases;Signaling by RAS mutants;Signaling by high-kinase activity BRAF mutants;Gastrin-CREB signalling pathway via PKC and MAPK;G alpha (q) signalling events;GPCR downstream signalling;Signaling by moderate kinase activity BRAF mutants;Constitutive Signaling by Ligand-Responsive EGFR Cancer Variants;Signaling by Ligand-Responsive EGFR Variants in Cancer;EGF;Paradoxical activation of RAF signaling by kinase inactive BRAF;ErbB2/ErbB3 signaling events;GMCSF-mediated signaling events;mTOR signaling pathway;Neurotrophic factor-mediated Trk receptor signaling;Signaling by BRAF and RAF fusions;Oncogenic MAPK signaling;Diseases of signal transduction;Downstream signaling in naïve CD8+ T cells;Internalization of ErbB1;TCR signaling in naïve CD8+ T cells;CXCR3-mediated signaling events;EPHB forward signaling;Plasma membrane estrogen receptor signaling;Trk receptor signaling mediated by PI3K and PLC-gamma;PDGFR-beta signaling pathway;Downstream signaling of activated FGFR1;Signaling by Type 1 Insulin-like Growth Factor 1 Receptor (IGF1R);Trk receptor signaling mediated by the MAPK pathway;TCR signaling in naïve CD4+ T cells;FRS-mediated FGFR1 signaling;SHC-mediated cascade:FGFR1;insulin;VEGFR2 mediated cell proliferation;Signaling by FGFR1;CD4 T cell receptor signaling" + pathway_kegg_id: hsa04010;hsa04012;hsa04360;hsa04370;hsa04530;hsa04540;hsa04650;hsa04660;hsa04662;hsa04664;hsa04720;hsa04730;hsa04810;hsa04910;hsa04912;hsa04916;hsa05210;hsa05211;hsa05212;hsa05213;hsa05214;hsa05215;hsa05216;hsa05218;hsa05219;hsa05220;hsa05221;hsa05223 + pathway_kegg_full: MAPK signaling pathway;ErbB signaling pathway;Axon guidance;VEGF signaling pathway;Tight junction;Gap junction;Natural killer cell mediated cytotoxicity;T cell receptor signaling pathway;B cell receptor signaling pathway;Fc epsilon RI signaling pathway;Long-term potentiation;Long-term depression;Regulation of actin cytoskeleton;Insulin signaling pathway;GnRH signaling pathway;Melanogenesis;Colorectal cancer;Renal cell carcinoma;Pancreatic cancer;Endometrial cancer;Glioma;Prostate cancer;Thyroid cancer;Melanoma;Bladder cancer;Chronic myeloid leukemia;Acute myeloid leukemia;Non-small cell lung cancer + function_description: "FUNCTION: Ras proteins bind GDP/GTP and possess intrinsic GTPase activity. Plays an important role in the regulation of cell proliferation (PubMed:23698361, PubMed:22711838). Plays a role in promoting oncogenic events by inducing transcriptional silencing of tumor suppressor genes (TSGs) in colorectal cancer (CRC) cells in a ZNF304-dependent manner (PubMed:24623306). {ECO:0000269|PubMed:22711838, ECO:0000269|PubMed:23698361, ECO:0000269|PubMed:24623306, ECO:0000305}." + disease_description: "DISEASE: Leukemia, acute myelogenous (AML) [MIM:601626]: A subtype of acute leukemia, a cancer of the white blood cells. AML is a malignant disease of bone marrow characterized by maturational arrest of hematopoietic precursors at an early stage of development. Clonal expansion of myeloid blasts occurs in bone marrow, blood, and other tissue. Myelogenous leukemias develop from changes in cells that normally produce neutrophils, basophils, eosinophils and monocytes. {ECO:0000269|PubMed:8955068}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Leukemia, juvenile myelomonocytic (JMML) [MIM:607785]: An aggressive pediatric myelodysplastic syndrome/myeloproliferative disorder characterized by malignant transformation in the hematopoietic stem cell compartment with proliferation of differentiated progeny. Patients have splenomegaly, enlarged lymph nodes, rashes, and hemorrhages. {ECO:0000269|PubMed:17332249}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Noonan syndrome 3 (NS3) [MIM:609942]: A form of Noonan syndrome, a disease characterized by short stature, facial dysmorphic features such as hypertelorism, a downward eyeslant and low-set posteriorly rotated ears, and a high incidence of congenital heart defects and hypertrophic cardiomyopathy. Other features can include a short neck with webbing or redundancy of skin, deafness, motor delay, variable intellectual deficits, multiple skeletal defects, cryptorchidism, and bleeding diathesis. Individuals with Noonan syndrome are at risk of juvenile myelomonocytic leukemia, a myeloproliferative disorder characterized by excessive production of myelomonocytic cells. {ECO:0000269|PubMed:16474405, ECO:0000269|PubMed:16773572, ECO:0000269|PubMed:17056636, ECO:0000269|PubMed:17468812, ECO:0000269|PubMed:19396835, ECO:0000269|PubMed:20949621}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Gastric cancer (GASC) [MIM:613659]: A malignant disease which starts in the stomach, can spread to the esophagus or the small intestine, and can extend through the stomach wall to nearby lymph nodes and organs. It also can metastasize to other parts of the body. The term gastric cancer or gastric carcinoma refers to adenocarcinoma of the stomach that accounts for most of all gastric malignant tumors. Two main histologic types are recognized, diffuse type and intestinal type carcinomas. Diffuse tumors are poorly differentiated infiltrating lesions, resulting in thickening of the stomach. In contrast, intestinal tumors are usually exophytic, often ulcerating, and associated with intestinal metaplasia of the stomach, most often observed in sporadic disease. {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:7773929}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=Defects in KRAS are a cause of pylocytic astrocytoma (PA). Pylocytic astrocytomas are neoplasms of the brain and spinal cord derived from glial cells which vary from histologically benign forms to highly anaplastic and malignant tumors. {ECO:0000269|PubMed:16247081}.;DISEASE: Cardiofaciocutaneous syndrome 2 (CFC2) [MIM:615278]: A form of cardiofaciocutaneous syndrome, a multiple congenital anomaly disorder characterized by a distinctive facial appearance, heart defects and mental retardation. Heart defects include pulmonic stenosis, atrial septal defects and hypertrophic cardiomyopathy. Some affected individuals present with ectodermal abnormalities such as sparse, friable hair, hyperkeratotic skin lesions and a generalized ichthyosis-like condition. Typical facial features are similar to Noonan syndrome. They include high forehead with bitemporal constriction, hypoplastic supraorbital ridges, downslanting palpebral fissures, a depressed nasal bridge, and posteriorly angulated ears with prominent helices. CFC2 patients often do not have the skin abnormalities, such as ichthyosis, hyperkeratosis, and hemangioma observed in CFC1. {ECO:0000269|PubMed:16474404, ECO:0000269|PubMed:16474405, ECO:0000269|PubMed:17056636, ECO:0000269|PubMed:20949621, ECO:0000269|PubMed:21797849}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Note=KRAS mutations are involved in cancer development. {ECO:0000269|PubMed:14534542, ECO:0000269|PubMed:1553789, ECO:0000269|PubMed:16533793, ECO:0000269|PubMed:24623306, ECO:0000269|PubMed:3034404, ECO:0000269|PubMed:3627975, ECO:0000269|PubMed:6092920, ECO:0000269|PubMed:6695174, ECO:0000269|PubMed:7773929}." + mim_phenotype_id: 601626;607785;609942;613659;615278 + mim_disease: "[MIM:601626]Leukemia, acute myelogenous;[MIM:607785]Leukemia, juvenile myelomonocytic;[MIM:609942]Noonan syndrome 3;[MIM:613659]Gastric cancer;[MIM:615278]Cardiofaciocutaneous syndrome 2" + orphanet_disorder_id: 648;2612;146;1340;2396;251615;268114;3339;144;1333;357191;357194;86834 + orphanet_disorder: Noonan syndrome;Linear nevus sebaceus syndrome;Differentiated thyroid carcinoma;Cardiofaciocutaneous syndrome;Encephalocraniocutaneous lipomatosis;Pilomyxoid astrocytoma;RAS-associated autoimmune leukoproliferative disease;Toriello-Lacassie-Droste syndrome;Lynch syndrome;Familial pancreatic carcinoma;Selection of therapeutic option in non-small cell lung carcinoma;Selection of therapeutic option in colorectal cancer;Juvenile myelomonocytic leukemia + orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing germline mutation(s) (gain of function) in;Candidate gene tested in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Disease-causing somatic mutation(s) in;Biomarker tested in;Major susceptibility factor in;Biomarker tested in;Biomarker tested in;Disease-causing somatic mutation(s) in + trait_association_gwas: "Disease progression in age-related macular degeneration[29346644];Dysmenorrheic pain[27454463]" + hpo_id: "HP:0001428;HP:0000006;HP:0001425;HP:0003002;HP:0000204;HP:0002582;HP:0012126;HP:0000006;HP:0000175;HP:0000995;HP:0002007;HP:0000269;HP:0001347;HP:0002353;HP:0001510;HP:0100555;HP:0002514;HP:0004422;HP:0001596;HP:0001305;HP:0000612;HP:0000568;HP:0001048;HP:0003422;HP:0009720;HP:0000504;HP:0002132;HP:0002816;HP:0007370;HP:0007400;HP:0000506;HP:0007360;HP:0001250;HP:0000324;HP:0001315;HP:0001249;HP:0001357;HP:0001252;HP:0000737;HP:0004374;HP:0100576;HP:0002076;HP:0012174;HP:0010526;HP:0002027;HP:0001824;HP:0001371;HP:0200008;HP:0010622;HP:0100613;HP:0001123;HP:0100743;HP:0001276;HP:0002893;HP:0001252;HP:0001402;HP:0002024;HP:0002671;HP:0003003;HP:0100835;HP:0006725;HP:0001250;HP:0002019;HP:0010786;HP:0100615;HP:0002376;HP:0100031;HP:0003401;HP:0000739;HP:0010524;HP:0001522;HP:0007256;HP:0002017;HP:0002354;HP:0002516;HP:0001260;HP:0002239;HP:0003006;HP:0000738;HP:0007018;HP:0000716;HP:0012378;HP:0100660;HP:0001288;HP:0100571;HP:0001269;HP:0004493;HP:0002797;HP:0001012;HP:0002652;HP:0005306;HP:0001250;HP:0001274;HP:0001331;HP:0002301;HP:0003552;HP:0001482;HP:0007957;HP:0001650;HP:0040188;HP:0000612;HP:0002120;HP:0011611;HP:0000499;HP:0001704;HP:0002357;HP:0002445;HP:0002514;HP:0100761;HP:0002119;HP:0002763;HP:0002092;HP:0001596;HP:0001680;HP:0001249;HP:0009125;HP:0002381;HP:0012062;HP:0010622;HP:0000488;HP:0000943;HP:0001263;HP:0012157;HP:0000614;HP:0001257;HP:0010529;HP:0002300;HP:0000991;HP:0001052;HP:0000256;HP:0002063;HP:0003470;HP:0000218;HP:0000347;HP:0000465;HP:0001743;HP:0006610;HP:0002650;HP:0000768;HP:0000486;HP:0004415;HP:0000325;HP:0010318;HP:0001260;HP:0002162;HP:0002208;HP:0004209;HP:0007477;HP:0000348;HP:0001252;HP:0000995;HP:0011381;HP:0000474;HP:0002974;HP:0011800;HP:0004322;HP:0100625;HP:0000407;HP:0000179;HP:0001004;HP:0008872;HP:0001641;HP:0000044;HP:0000028;HP:0011869;HP:0002750;HP:0000767;HP:0005692;HP:0001156;HP:0001928;HP:0000391;HP:0000476;HP:0001324;HP:0011675;HP:0000316;HP:0000368;HP:0000639;HP:0000508;HP:0001892;HP:0002240;HP:0000520;HP:0000494;HP:0011362;HP:0000238;HP:0000545;HP:0006191;HP:0001004;HP:0000637;HP:0000974;HP:0004422;HP:0000504;HP:0200102;HP:0000293;HP:0000316;HP:0000028;HP:0008070;HP:0000343;HP:0000391;HP:0002857;HP:0000348;HP:0000958;HP:0000276;HP:0000256;HP:0001654;HP:0000982;HP:0001639;HP:0008064;HP:0001252;HP:0002213;HP:0000508;HP:0005280;HP:0000470;HP:0007565;HP:0000463;HP:0002650;HP:0004322;HP:0008872;HP:0001582;HP:0002217;HP:0001048;HP:0000400;HP:0002120;HP:0010669;HP:0002299;HP:0001531;HP:0001263;HP:0000767;HP:0001622;HP:0000639;HP:0000486;HP:0002997;HP:0001249;HP:0001631;HP:0007392;HP:0000176;HP:0000494;HP:0000286;HP:0002967;HP:0012719;HP:0000465;HP:0003196;HP:0000126;HP:0001642;HP:0100840;HP:0000218;HP:0001260;HP:0009891;HP:0001003;HP:0007440;HP:0002007;HP:0002353;HP:0000368;HP:0002162;HP:0008391;HP:0000648;HP:0000280;HP:0001639;HP:0002836;HP:0000006;HP:0012803;HP:0001510;HP:0001643;HP:0000953;HP:0001004;HP:0000520;HP:0001680;HP:0007759;HP:0001250;HP:0002558;HP:0010816;HP:0000625;HP:0001631;HP:0000286;HP:0000431;HP:0000486;HP:0000483;HP:0000482;HP:0100559;HP:0000470;HP:0000256;HP:0000242;HP:0000639;HP:0001057;HP:0005280;HP:0001428;HP:0100702;HP:0001140;HP:0002326;HP:0000324;HP:0000752;HP:0001263;HP:0001428;HP:0006519;HP:0000006;HP:0000007;HP:0002910;HP:0003002;HP:0001824;HP:0002861;HP:0004396;HP:0025318;HP:0003003;HP:0002017;HP:0003418;HP:0001433;HP:0005249;HP:0100592;HP:0000819;HP:0001738;HP:0006725;HP:0002039;HP:0002254;HP:0012334;HP:0002896;HP:0004389;HP:0002027;HP:0002716;HP:0000952;HP:0012432;HP:0000006;HP:0001428;HP:0006740;HP:0000358;HP:0000337;HP:0003477;HP:0000006;HP:0000545;HP:0002212;HP:0000508;HP:0001263;HP:0000463;HP:0000218;HP:0001634;HP:0008070;HP:0002223;HP:0000280;HP:0000369;HP:0002213;HP:0004808;HP:0000006;HP:0001428;HP:0000006;HP:0002408;HP:0001909;HP:0000006;HP:0002205;HP:0012311;HP:0002665;HP:0001875;HP:0010702;HP:0001876;HP:0100827;HP:0002240;HP:0001744;HP:0001878;HP:0005523;HP:0002731;HP:0002729;HP:0001973;HP:0000006;HP:0000476;HP:0001643;HP:0000767;HP:0000369;HP:0000218;HP:0000465;HP:0005281;HP:0000494;HP:0001263;HP:0001642;HP:0030799;HP:0000316;HP:0004442;HP:0000358;HP:0002007;HP:0001639;HP:0001629;HP:0011995;HP:0001561;HP:0000286;HP:0003196;HP:0012209;HP:0000463;HP:0001631;HP:0001634;HP:0000256;HP:0004322;HP:0002750;HP:0000028;HP:0001428;HP:0410067;HP:0000006;HP:0002894;HP:0000602;HP:0010817;HP:0002671;HP:0003745;HP:0002751;HP:0004912;HP:0007957;HP:0002757;HP:0001250;HP:0004322;HP:0008064;HP:0001249;HP:0007206;HP:0000589;HP:0001010;HP:0006482;HP:0000826;HP:0011073;HP:0001680;HP:0001528;HP:0001596;HP:0001442;HP:0001028;HP:0001780;HP:0003109;HP:0001548;HP:0000267;HP:0000085;HP:0010815;HP:0000938;HP:0001167;HP:0000365;HP:0001252;HP:0001508;HP:0002251;HP:0000463;HP:0000069;HP:0011968;HP:0000625;HP:0001331;HP:0012745;HP:0001999;HP:0000506;HP:0001156;HP:0001561;HP:0008749;HP:0001140;HP:0000047;HP:0030680;HP:0004279;HP:0000486;HP:0001274;HP:0000520;HP:0008065;HP:0000581;HP:0000014;HP:0007440;HP:0000256;HP:0001510;HP:0000286;HP:0003196;HP:0000039" + hpo_name: "Somatic mutation;Autosomal dominant inheritance;Heterogeneous;Breast carcinoma;Cleft upper lip;Chronic atrophic gastritis;Stomach cancer;Autosomal dominant inheritance;Cleft palate;Melanocytic nevus;Frontal bossing;Prominent occiput;Hyperreflexia;EEG abnormality;Growth delay;Asymmetric growth;Cerebral calcification;Biparietal narrowing;Alopecia;Dandy-Walker malformation;Iris coloboma;Microphthalmia;Cavernous hemangioma;Vertebral segmentation defect;Adenoma sebaceum;Abnormality of vision;Porencephalic cyst;Genu recurvatum;Aplasia/Hypoplasia of the corpus callosum;Irregular hyperpigmentation;Telecanthus;Aplasia/Hypoplasia of the cerebellum;Seizure;Facial asymmetry;Reduced tendon reflexes;Intellectual disability;Plagiocephaly;Muscular hypotonia;Irritability;Hemiplegia/hemiparesis;Amaurosis fugax;Migraine;Glioblastoma multiforme;Dysgraphia;Abdominal pain;Weight loss;Flexion contracture;Intestinal polyposis;Neoplasm of the skeletal system;Death in early adulthood;Visual field defect;Neoplasm of the rectum;Hypertonia;Pituitary adenoma;Muscular hypotonia;Hepatocellular carcinoma;Malabsorption;Basal cell carcinoma;Colon cancer;Benign neoplasm of the central nervous system;Pancreatic adenocarcinoma;Seizure;Constipation;Urinary tract neoplasm;Ovarian neoplasm;Developmental regression;Neoplasm of the thyroid gland;Paresthesia;Anxiety;Agnosia;Death in infancy;Abnormal pyramidal sign;Nausea and vomiting;Memory impairment;Increased intracranial pressure;Dysarthria;Gastrointestinal hemorrhage;Neuroblastoma;Hallucinations;Attention deficit hyperactivity disorder;Depressivity;Fatigue;Dyskinesia;Gait disturbance;Cardiac diverticulum;Hemiparesis;Craniofacial hyperostosis;Osteolysis;Multiple lipomas;Skeletal dysplasia;Capillary hemangioma;Seizure;Agenesis of corpus callosum;Absent septum pellucidum;Hemiplegia;Muscle stiffness;Subcutaneous nodule;Corneal opacity;Aortic valve stenosis;Osteochondrosis;Iris coloboma;Cerebral cortical atrophy;Interrupted aortic arch;Abnormal eyelash morphology;Tricuspid valve prolapse;Dysphasia;Tetraplegia;Cerebral calcification;Visceral angiomatosis;Ventriculomegaly;Abnormal cartilage morphology;Pulmonary arterial hypertension;Alopecia;Coarctation of aorta;Intellectual disability;Lipodystrophy;Aphasia;Bone cyst;Neoplasm of the skeletal system;Retinopathy;Dysostosis multiplex;Global developmental delay;Subcortical cerebral atrophy;Abnormal nasolacrimal system morphology;Spasticity;Echolalia;Mutism;Xanthomatosis;Nevus flammeus;Macrocephaly;Rigidity;Paralysis;High palate;Micrognathia;Webbed neck;Abnormality of the spleen;Wide intermamillary distance;Scoliosis;Pectus carinatum;Strabismus;Pulmonary artery stenosis;Triangular face;Aplasia/Hypoplasia of the abdominal wall musculature;Dysarthria;Low posterior hairline;Coarse hair;Clinodactyly of the 5th finger;Abnormal dermatoglyphics;High forehead;Muscular hypotonia;Melanocytic nevus;Aplasia of the semicircular canal;Thickened nuchal skin fold;Radioulnar synostosis;Midface retrusion;Short stature;Enlarged thorax;Sensorineural hearing impairment;Thick lower lip vermilion;Lymphedema;Feeding difficulties in infancy;Abnormal pulmonary valve morphology;Hypogonadotropic hypogonadism;Cryptorchidism;Abnormal platelet function;Delayed skeletal maturation;Pectus excavatum;Joint hyperflexibility;Brachydactyly;Abnormality of coagulation;Thickened helices;Cystic hygroma;Muscle weakness;Arrhythmia;Hypertelorism;Low-set, posteriorly rotated ears;Nystagmus;Ptosis;Abnormal bleeding;Hepatomegaly;Proptosis;Downslanted palpebral fissures;Abnormal hair quantity;Hydrocephalus;Myopia;Deep palmar crease;Lymphedema;Long palpebral fissure;Hyperextensible skin;Biparietal narrowing;Abnormality of vision;Sparse or absent eyelashes;Full cheeks;Hypertelorism;Cryptorchidism;Sparse hair;Long philtrum;Thickened helices;Genu valgum;High forehead;Dry skin;Long face;Macrocephaly;Abnormal heart valve morphology;Palmoplantar keratoderma;Hypertrophic cardiomyopathy;Ichthyosis;Muscular hypotonia;Fine hair;Ptosis;Depressed nasal bridge;Short neck;Multiple cafe-au-lait spots;Anteverted nares;Scoliosis;Short stature;Feeding difficulties in infancy;Redundant skin;Slow-growing hair;Cavernous hemangioma;Macrotia;Cerebral cortical atrophy;Hypoplasia of the zygomatic bone;Brittle hair;Failure to thrive in infancy;Global developmental delay;Pectus excavatum;Premature birth;Nystagmus;Strabismus;Abnormality of the ulna;Intellectual disability;Atrial septal defect;Excessive wrinkled skin;Submucous cleft hard palate;Downslanted palpebral fissures;Epicanthus;Cubitus valgus;Functional abnormality of the gastrointestinal tract;Webbed neck;Short nose;Hydronephrosis;Pulmonic stenosis;Aplasia/Hypoplasia of the eyebrow;High palate;Dysarthria;Underdeveloped supraorbital ridges;Multiple lentigines;Generalized hyperpigmentation;Frontal bossing;EEG abnormality;Low-set, posteriorly rotated ears;Low posterior hairline;Dystrophic fingernails;Optic atrophy;Coarse facial features;Hypertrophic cardiomyopathy;Bladder exstrophy;Autosomal dominant inheritance;Anisometropia;Growth delay;Patent ductus arteriosus;Hyperpigmentation of the skin;Lymphedema;Proptosis;Coarctation of aorta;Opacification of the corneal stroma;Seizure;Supernumerary nipple;Epidermal nevus;Eyelid coloboma;Atrial septal defect;Epicanthus;Wide nasal bridge;Strabismus;Astigmatism;Microcornea;Lower limb asymmetry;Short neck;Macrocephaly;Parietal bossing;Nystagmus;Aplasia cutis congenita;Depressed nasal bridge;Somatic mutation;Arachnoid cyst;Limbal dermoid;Transient ischemic attack;Facial asymmetry;Hyperactivity;Global developmental delay;Somatic mutation;Alveolar cell carcinoma;Autosomal dominant inheritance;Autosomal recessive inheritance;Elevated hepatic transaminase;Breast carcinoma;Weight loss;Melanoma;Poor appetite;Ovarian carcinoma;Colon cancer;Nausea and vomiting;Back pain;Hepatosplenomegaly;Functional intestinal obstruction;Peritoneal abscess;Diabetes mellitus;Exocrine pancreatic insufficiency;Pancreatic adenocarcinoma;Anorexia;Intermittent diarrhea;Extrahepatic cholestasis;Neoplasm of the liver;Intestinal pseudo-obstruction;Abdominal pain;Lymphadenopathy;Jaundice;Chronic fatigue;Autosomal dominant inheritance;Somatic mutation;Transitional cell carcinoma of the bladder;Posteriorly rotated ears;Broad forehead;Peripheral axonal neuropathy;Autosomal dominant inheritance;Myopia;Curly hair;Ptosis;Global developmental delay;Anteverted nares;High palate;Mitral valve prolapse;Sparse hair;Absent eyebrow;Coarse facial features;Low-set ears;Fine hair;Acute myeloid leukemia;Autosomal dominant inheritance;Somatic mutation;Autosomal dominant inheritance;Cerebral arteriovenous malformation;Leukemia;Autosomal dominant inheritance;Recurrent respiratory infections;Monocytosis;Lymphoma;Neutropenia;Increased circulating antibody level;Pancytopenia;Lymphocytosis;Hepatomegaly;Splenomegaly;Hemolytic anemia;Lymphoproliferative disorder;Decreased lymphocyte apoptosis;Follicular hyperplasia;Autoimmune thrombocytopenia;Autosomal dominant inheritance;Cystic hygroma;Patent ductus arteriosus;Pectus excavatum;Low-set ears;High palate;Webbed neck;Hypoplastic nasal bridge;Downslanted palpebral fissures;Global developmental delay;Pulmonic stenosis;Scaphocephaly;Hypertelorism;Sagittal craniosynostosis;Posteriorly rotated ears;Frontal bossing;Hypertrophic cardiomyopathy;Ventricular septal defect;Atrial septal dilatation;Polyhydramnios;Epicanthus;Short nose;Juvenile myelomonocytic leukemia;Anteverted nares;Atrial septal defect;Mitral valve prolapse;Macrocephaly;Short stature;Delayed skeletal maturation;Cryptorchidism;Somatic mutation;Increased level of L-fucose in urine;Autosomal dominant inheritance;Neoplasm of the pancreas;Ophthalmoplegia;Linear nevus sebaceous;Basal cell carcinoma;Sporadic;Kyphoscoliosis;Hypophosphatemic rickets;Corneal opacity;Recurrent fractures;Seizure;Short stature;Ichthyosis;Intellectual disability;Hemimegalencephaly;Coloboma;Hypopigmentation of the skin;Abnormality of dental morphology;Precocious puberty;Abnormality of dental color;Coarctation of aorta;Hemihypertrophy;Alopecia;Somatic mosaicism;Hemangioma;Abnormality of toe;Hyperphosphaturia;Overgrowth;Cranial asymmetry;Horseshoe kidney;Nevus sebaceous;Osteopenia;Abnormality of finger;Hearing impairment;Muscular hypotonia;Failure to thrive;Aganglionic megacolon;Anteverted nares;Abnormality of the ureter;Feeding difficulties;Eyelid coloboma;Absent septum pellucidum;Short palpebral fissure;Abnormal facial shape;Telecanthus;Brachydactyly;Polyhydramnios;Laryngeal hypoplasia;Limbal dermoid;Hypospadias;Abnormality of cardiovascular system morphology;Short palm;Strabismus;Agenesis of corpus callosum;Proptosis;Aplasia/Hypoplasia of the skin;Blepharophimosis;Abnormality of the bladder;Generalized hyperpigmentation;Macrocephaly;Growth delay;Epicanthus;Short nose;Epispadias" + go_biological_process: "MAPK cascade;liver development;positive regulation of protein phosphorylation;stimulatory C-type lectin receptor signaling pathway;Ras protein signal transduction;female pregnancy;positive regulation of cell population proliferation;visual learning;positive regulation of gene expression;cytokine-mediated signaling pathway;forebrain astrocyte development;actin cytoskeleton organization;regulation of protein stability;regulation of synaptic transmission, GABAergic;positive regulation of Rac protein signal transduction;response to isolation stress;endocrine signaling;positive regulation of MAP kinase activity;negative regulation of neuron apoptotic process;negative regulation of cell differentiation;regulation of long-term neuronal synaptic plasticity;homeostasis of number of cells within a tissue;positive regulation of nitric-oxide synthase activity;positive regulation of NF-kappaB transcription factor activity;striated muscle cell differentiation;response to glucocorticoid;response to mineralocorticoid;epithelial tube branching involved in lung morphogenesis;positive regulation of cellular senescence" + go_cellular_component: cytoplasm;mitochondrion;cytosol;plasma membrane;focal adhesion;membrane;extrinsic component of cytoplasmic side of plasma membrane;membrane raft + go_molecular_function: GTPase activity;protein binding;GTP binding;GMP binding;GDP binding;LRR domain binding;protein-containing complex binding + tissue_specificity_uniprot: "." + expression_egenetics: cochlea;intestine;pharynx;tongue;cornea;spinal ganglion;skin;stomach;testis;unclassifiable (Anatomical System);kidney;uterus;whole body;retina;pancreas;bile duct;head and neck;mammary gland;spinal cord;skeletal muscle;islets of Langerhans;visual apparatus;cervix;spleen;liver;peripheral nerve;cartilage;endometrium;bone;germinal center;parathyroid;brain;blood;heart;bone marrow;lung;salivary gland;ovary;thyroid;lymph node;bladder;frontal lobe;colon;placenta;prostate;breast;optic nerve + expression_gnf_atlas: ciliary ganglion;amygdala;prefrontal cortex;trigeminal ganglion;superior cervical ganglion;cingulate cortex;cerebellum;pons;occipital lobe;subthalamic nucleus;dorsal root ganglion;whole brain;atrioventricular node;globus pallidus + interactions_intact: "DIRAS3[25640309];MOCS2[25640309];ABCD3[26496610];NUP107[26496610];DDX47[21988832];C1orf131[26496610];ZMYND8[26496610];IL24[25640309];ARAF[25416956;25852190];GOLIM4[26496610];FRAT1[26496610];RASSF2[12732644];FRAT2[24412244];LSM11[26496610];TXNL4A[26496610];BCAS3[25640309];KSR1[27086506];IGFBP3[24412244];TTC31[26496610];MED4[26496610];DDX50[21988832];ZDHHC17[24705354];SERPINB5[25640309];EEF1A1[21900206];UQCRC1[25640309];MT-CO3[25640309];RAF1[20802526;25852190;20080631];NCBP2-AS2[26496610];HEMGN[24412244];TEDC1[26496610];STX17[24412244];LPAR1[21988832];COPS7B[26496610];PIK3R2[21988832];ADH6[21988832];IGSF21[21900206];PPP2CB[24412244];LIMA1[26496610];DEAF1[21900206];CCL5[25640309];PDE6D[23698361];CCT7[21900206];FAM83D[26496610];RALGDS[21988832];ZNF189[24412244];EGLN1[21988832];TNFSF13[25640309];OSGIN1[25640309];PDE4DIP[21900206];FANCC[24412244];SORBS3[26496610];PML[26496610];GATAD2A[26496610];QDPR[25640309];CDK8[24412244];RPS29[26496610];THRSP[25640309];KRAS[26051715];HNRNPC[16189514];MT-CYB[25640309];RGL2[21988832]" + interactions_biogrid: "RPL4[27684187];RPL5[27684187];RPL30[27684187];NUP107[26496610];RPL3[27684187];RPL32[27684187];RPL31[27684187];FRMPD1[19490893];ARAF[25416956;25852190;28628118];WDR83[19490893];HNRNPR[27684187];ENO1[27684187];ALKBH7[19490893];EPRS[19490893;27684187];RPL8[27684187];RPL6[27684187];RRP9[19490893];RPL7[27684187];ALKBH3[19490893];PREX1[28162770];LSM11[26496610];PSMD2[27684187];PIP4K2A[19490893];FLJ90680[19490893];RPL21[27684187];DNTTIP1[19490893];LOC285556[19490893];CACNA2D2[19490893];MED4[26496610];SYTL2[19490893];NUP93[19490893];MYL6[27684187];RFX4[19490893];FEZ2[19490893];UQCRC1[25640309];C14orf80[26496610];NUP98[24104479];RPL26[27684187];FREM1[19490893];HOXB5[19490893];NCBP2-AS2[26496610];URI1[19490893];NUP205[19490893];HOXD1[19490893];NPRL2[27684187];FLII[27684187];ABCB5[19490893];GATA6[19490893];CDCA8[19490893];MRPS36P4[19490893];COPS7B[26496610];LYPD4[27229929];ANAPC10[24104479];ADH6[21988832];C6[19490893];FLRT2[19490893];RRS1[19490893];COX3[25640309];SFN[27684187];LTA4H[24104479];PROM1[19490893];RHBDL2[19490893];NHEJ1[24104479];GSDMC[19490893];ICMT[28162770];JUP[27684187];ZNF260[19490893];PLK1[19490893];BRAF[28514442;27034005;28628118;27684187];MRPL30[19490893];FAM160A2[19490893];HNRNPK[27684187];QARS[19490893];HNRNPF[27684187];HNRNPC[16189514;19490893;27684187];MOCS2[25640309];ARF1[27684187];LRRC32[19490893];PHF7[19490893];GLI3[19490893];ADAMTSL5[19490893];LCE5A[19490893];NKRF[27684187];TRIM3[19490893];TK2[19490893];TEAD2[19490893];JAK1[19490893];NDC1[19490893];ZC3H10[19490893];WDR36[19490893];WDR37[19490893];ANXA5[19490893];LOC283575[19490893];MRPL49[19490893];RRAS2[27684187];PAWR[27684187];TIMM22[19490893];DYNLL2[19490893];PTGR2[26496610];SERPINB5[19490893;25640309];PSMA5[19490893];TMEM177[19490893];PSMA3[25416956];RILPL2[24104479];PSMA1[27684187];MDFI[25416956];SF3B2[27684187];RPL10[27684187];RPL12[27684187];ATP5A1[27684187];ADAM22[19490893];ADCY8[19490893];HSPA14[19490893];LRRC10[19490893];SPTY2D1[19490893];EGFR[26627737];FAM129B[26721396];PSMB6[19490893];PSMB4[27684187];UNK[25737280];EXOSC10[19490893];PSMB5[19490893];C11orf72[19490893];PSMB2[27684187];CHN1[19490893];PPP1R8[19490893];PSMB1[27684187];RPL15[27684187];RPL18[27684187];RPL17[27684187];EGLN1[21988832];ZNF584[19490893];GPR56[19490893];USP9Y[19490893];C14orf183[19490893];SRP68[27684187];GATAD2A[19490893;26496610];FOXR1[19490893];FAM115C[19490893];PHF5A[27684187];NMNAT1[19490893];PSMC3[27684187];NCAPD2[19490893];MTCH2[27684187];NAB1[24104479];GOLIM4[26496610];CASC5[19490893];UBE2D1[19490893];ZC3HAV1L[19490893];IL1RAP[19490893];IPO7[27684187];CXCL16[19490893];IPO5[27684187];CDH5[19490893];RIMS1[19490893];CDH1[27684187];GRAP2[19490893];NEK1[19490893];OIP5[19490893];STK32A[24104479];HMGN2[19490893];PSKH2[19490893];TXNL4A[26496610];KPNA2[27684187];KCMF1[19490893];CDKL3[19490893];MYLIP[19490893];MAP2K1[24104479;27684187];RPS9[27684187];SNRPN[19490893];USP6[19490893];FBXW7[19490893];KCNH7[19490893];THOC1[24104479;19490893];SYPL2[19490893];RNF40[19490893];MOB3A[19490893];THOC6[27684187];MTNR1A[24104479];SLC9A8[24104479];NCL[19490893;27684187];ANAPC4[19490893];ERH[19490893;27684187];SNRPF[24104479;27684187];TTPAL[19490893];SQSTM1[27684187];ANAPC1[19490893];KMT2E[24104479];KMT2A[19490893];SHC1[26627737];IREB2[19490893];PHB[16041367];KLC1[27684187];RLF[19490893];IGSF21[21900206];BAG2[27684187];TTC21B[19490893];G3BP2[27684187];BRIX1[19490893];NAE1[19490893];MPDZ[19490893];C9orf84[19490893];NADK[19490893];OSBPL9[19490893];RBPMS[25416956];SHFM1[19490893];FANCA[19490893];FBXO36[19490893];LSM5[19490893];EEF2[27684187];COPS4[19490893];MFHAS1[24104479];IBTK[19490893];BFSP1[19490893];RGCC[19490893];COPS5[19490893];GNL3L[19490893];GON4L[19490893];ARPC2[19490893];ARPC3[19490893];CNOT1[19490893];COPS2[19490893];BCL2[19433448];NF1[19490893];PIN1[19490893];TPP2[19490893];IARS[19490893];TUBGCP4[19490893];CYTB[25640309];COPS8[19490893];NOP10[19490893];EIF4G2[27684187];BCL2L1[27684187];ISY1[19490893];DIDO1[19490893];HSP90AB1[27684187];C1orf131[26496610];RASGRF2[11238945];COX4I2[19490893];SNAP23[19490893];TSSK1B[19490893];EFCAB12[19490893];NXT2[24104479];PIK3CG[10542052];CDC73[19490893];PPP6C[27684187];CAPZB[27684187];UBTF[19490893];LINC01547[19490893];CCIN[19490893];ZNF764[24104479];BCAS2[24104479];ACTR2[19490893];BCAS3[25640309];HSP90AA1[27684187];SH2D3A[19490893];ARNT[27684187];TFIP11[27684187];DUSP22[27432908];ARL4A[19490893];PIK3CA[10783161;26627737];TRAF6[24026882];SOS1[26627737];SPACA7[19490893];GAPDH[27684187];CATSPER1[19490893];DGCR14[19490893];UHRF2[19490893];SHCBP1L[19490893];SRSF1[27684187];RCHY1[19490893];COCH[24104479];RNFT1[24104479];FBXL20[19490893];SLITRK2[19490893];FIP1L1[27684187];U2AF2[27684187];CCL5[25640309];IARS2[19490893];FCGR1A[19490893];CTNNAL1[19490893];TRIM44[19490893];DCAF13[19490893];HNRNPA0[27684187];NDUFA9[19490893];NOP56[19490893];PTPN1[19490893];CTNS[19490893];RPL35A[27684187];CDC5L[27684187];RPL23A[27684187];PML[26496610];TSPAN15[19490893];PINK1[19490893];KIAA0101[19490893];POLR3B[19490893];TRIM39[19490893];DNAJA3[18624398];EIF3G[19490893];POLR3F[19490893];RQCD1[19490893];TRIM36[19490893];MNDA[19490893];EIF3E[27684187];NAGS[19490893];EIF3C[19490893];EIF3D[27684187];EIF3A[19490893];METAP2[19490893];APP[21832049];C12orf56[19490893];ZMYND8[26496610];EIF4A3[19490893];RTCB[27684187];ACSM4[19490893];TAS2R62P[19490893];LGALS3[27684187];RPS14[27684187];PNN[27684187];FRAT1[26496610];RASSF2[12732644];RPS19[24104479];RPL18A[24104479;27684187];SNRPD2[24104479];TRIM28[27684187];RASSF5[11857081];CDC27[19490893];MAGOH[27684187];DAG1[19490893];ARL6IP5[27229929];BTRC[24709419];C12orf66[24104479];SOX4[28628118];SRRM2[27684187];JMJD4[24104479];C16orf72[24104479];MRGPRG-AS1[19490893];SLC11A2[19490893];FNDC9[19490893];CRNKL1[19490893];SRRM1[27684187];SPATA17[19490893];KARS[19490893];KCTD12[19490893];BCORL1[19490893];RIN1[28514442];KPRP[19490893];WFDC12[19490893];SPTBN5[19490893];EPB42[3276554];ANP32A[27684187];DHX9[27684187];DCUN1D3[27684187];LPAR1[21988832];TWIST1[19490893];PIK3R2[21988832];ZBTB5[19490893];GSPT1[19490893;27684187];SEC14L3[19490893];SNX2[19490893];SPAST[19490893];DHX38[19490893];TNRC18[19490893];RCE1[28162770];A2M[19490893];RALGDS[10783161;7809086;21988832];SPTBN1[27684187];SRPK2[27684187];XRCC6[27684187];YES1[27684187];XRCC5[27684187];TNFSF13[25640309];OSGIN1[25640309];DCLK2[19490893];PARP12[19490893];UBAC2[19490893];SRPK1[27684187];CRNN[19490893];POLA1[19490893];RPS25[27684187];RPS28[27684187];SNW1[19490893];VNN1[19490893];RPS29[26496610];RPL27A[27684187];CDC16[19490893];MPHOSPH10[27684187];GRB2[26627737];RNPS1[27684187];RPS20[27684187];CALR[19490893];CALM1[11585916;12727204;27684187];RGL2[21988832];ITM2A[19490893];DIRAS3[24104479;25640309];ACVRL1[19490893];CSRNP1[19490893];SUV39H2[19490893];CCDC120[19490893];IL24[25640309];OLA1[27684187];IKBKAP[19490893];C6orf48[19490893];PRPF19[27684187];EDA2R[19490893];SYNCRIP[27684187];XPO1[19490893];SH3PXD2B[19490893];PHGDH[27684187];RAC1[27684187];CCDC112[19490893];CAP1[27684187];CCT2[19490893];SEC13[27684187];CCDC114[24104479];KRT32[19490893];ZDHHC17[24705354];RHOA[27229929];MLF2[19490893];NR5A1[19490893];HCK[19490893];KIF2C[19490893];PABPC1[27684187];MATN2[19490893];SDCCAG8[19490893];NAPA[24104479];YAP1[27684187];CXorf40A[19490893];GNAI3[27684187];IGHMBP2[27684187];NOL8[19490893];UQCR10[19490893];NOL3[19490893];GNAI2[27684187];LIMA1[26496610];EXOSC4[19490893];RELN[19490893];CREG1[19490893];EBLN2[19490893];SHOC2[10783161;28162770];CCT7[21900206];CCT5[27684187];LMLN[24104479];CA12[19490893];GDF10[19490893];SVIL[24104479];NQO2[19490893];MTX2[19490893];HUWE1[19490893];RPA2[19490893];SORBS3[26496610];RGP1[19490893];NBR2[19490893];VMP1[19490893];MIS18A[19490893];HNRNPA2B1[27684187];KIAA0509[19490893];PNPLA4[24104479;19490893];CTNNB1[27684187];PRPF31[24104479];TRIP12[27684187];F2RL3[19490893];NDUFA13[27229929];CD83[24104479];WWC1[19490893];UBE3B[19490893];TOMM20[19490893];IGF1R[27684187];ACTG1[27684187];FBL[19490893];NPM1P13[19490893];CWC22[24104479];ENPP4[19490893];ENPP5[19490893];KDM2A[19490893];ZGPAT[19490893];TMOD3[27684187];ADAM10[24104479];LMO7[27684187];MID1[19490893];RPP25L[19490893];GRIP2[19490893];RSBN1[19490893];EEF1A1[21900206;19490893;27684187];PRPF3[24104479];PPIE[27684187];RAF1[10783161;10882715;19029954;23153539;16041367;16093354;10958680;25852190;26721396;26627737;28162770;15192046;28628118;27684187];EMID1[19490893];GCM2[19490893];RTN2[19490893];PSMD12[19490893;27684187];TMED10[19490893];RBM8A[27684187];CTTNBP2[19490893];PSEN1[19490893];RPF2[19490893];RPF1[19490893];EFNB2[19490893];HCAR1[19490893];ZMAT1[19490893];TMEM248[19490893];DHRS7C[19490893];ZC3H18[19490893];ZC3H13[19490893];FAM83D[26496610];MYH10[27684187];ZC3H15[19490893];HSPA9[19490893;27684187];HSPA8[27684187];DARS[27684187];UBE2I[19490893];KLHL25[19490893];NONO[24104479];TBCD[19490893];GNB2L1[27684187];HIGD2A[19490893];QDPR[25640309];DLG1[27684187];EIF2S3[27684187];CYP11B1[19490893];GNB2[27684187];STT3A[19490893];UBA1[19490893];SAE1[19490893];UBE2M[19490893];YWHAE[27684187];KDM5B[24104479];ABCD3[26496610];DDX3X[27684187];DDX47[21988832];LOC255654[19490893];LOC284379[19490893];DDX43[19490893];HSPB1[27684187];YBX1[27684187];ELAVL1[19322201];TTC27[24104479];GMPPB[19490893];RPS4X[27684187];SEC61A1[27684187];USP30[19490893];HSDL2[19490893];TGIF2[19490893];OR2H2[19490893];TTC31[26496610];TBC1D8[24104479];DDX50[21988832];ARID1B[19490893];YWHAZ[27684187];CCNA2[19490893];DNM3[19490893];SFPQ[24104479];NAV3[19490893];UBE2R2[19490893];THRAP3[27684187];HKDC1[24104479];MYH9[27684187];MCPH1[19490893];KDM3B[19490893];DDX24[27684187];DCTN4[19490893];MVP[19490893];PON2[19490893];RAP1GDS1[11948427;20709748];VPRBP[19490893];OR4K1[19490893];CLCN1[19490893];ASB16[19490893];HSPD1[19490893;27684187];NXF1[19490893];CAND1[27684187];KDELC1[19490893];GNG5[27684187];MAPK1[10958680;26627737];HSD3B7[19490893];RBM39[27684187];NAA10[19490893];HSD3B2[19490893];POLM[19490893];PLA2G2A[19490893];PDE4DIP[21900206];PHKBP2[19490893];NAP1L6[19490893];CARM1[19490893];ACIN1[27684187];KRAS[19490893;27213482;27684187];THRSP[25640309];S100P[27684187];NAA15[19490893];TAF1[24104479];CCDC171[19490893]" + interactions_consensus_path_db: "BRAF[0.999];RAP1GDS1[0.006];APP[0.989];LGALS3[0.944];RASSF2[0.126];RALGDS[0.629];ARAF[0.012];SHOC2[0.839];RAF1[0.999];OSGIN1[0.005];IGSF21[0.005];HNRNPC[0.197];FRAT2[0.034];YWHAH[NA];PPP6C[NA];TIMM50[NA];SLC25A22[NA];DDX5[NA];ATP5MD[NA];YWHAQ[NA];STUB1[NA];TECR[NA];RCN2[NA];YWHAB[NA];TUBA4A[NA];FKBP5[NA];CTNNA1[NA];MAP2K2[NA];RPL39P5[NA];TRIM28[NA];LRRC59[NA];TUBB6[NA];EEF2[NA];DPM1[NA];SLC25A13[NA];YBX3[NA];ARAF[NA];AIFM1[NA];DNAJA2[NA];SLC25A1[NA];YWHAG[NA];RPL37[NA];YWHAZ[NA];ATP5F1B[NA];KIF1BP[NA];SDF4[NA];YWHAE[NA];MT-CYB[0.004];STX17[0.730];IL24[0.007];GATAD2A[NA];TSPYL1[NA];CHERP[NA];GATAD2B[NA];TSPYL2[NA];MGA[NA];HDAC1[NA];ZNF532[NA];PSMD5[NA];MTA1[NA];ZMYND8[NA];CHD4[NA];ZNF687[NA];RBBP7[NA];ZCCHC17[NA];ZNF592[NA];MBD3[NA];HDAC2[NA];ESF1[NA];RPS27L[NA];MTA2[NA];MBD2[NA];PDE4DIP[0.445];HEMGN[0.118];MOCS2[0.157];DDX47[0.106];DIRAS3[0.995];COPS7B[NA];LSM11[NA];PML[NA];MED4[NA];GOLIM4[NA];FAM83D[NA];RPS29[NA];NCBP2-AS2[NA];ABCD3[NA];C1orf131[NA];TXNL4A[NA];SORBS3[NA];GATAD2A[NA];TEDC1[NA];NUP107[NA];DEAF1[0.124];ZDHHC17[0.802];CCT7[0.789];EEF1A1[0.780];THRSP[0.216];CDK8[0.624];SERPINB5[0.351];EMD[NA];YWHAE[NA];YWHAZ[NA];SFN[NA];YWHAG[NA];CCT8[NA];CALU[NA];YWHAH[NA];RAF1[NA];YWHAB[NA];YWHAQ[NA];DNAJA1[NA];TIMM50[NA];QDPR[0.998];CCL5[0.982];GSK3A[NA];GSK3B[NA];FRAT1[NA];PIAS1[NA];UQCRC1[0.996];ZNF189[0.088];EGLN1[0.747];LPAR1[0.985];TNFSF13[0.939];PPP2CB[0.889];IGFBP3[0.273];PDE6D[0.006];DDX50[0.721];FANCC[0.327];PIK3R2[0.823];MT-CO3[0.004];ADH6[0.005];RASSF5[0.608];PIK3CG[0.988];BCL2[0.999];EPB42[0.720];PGGT1B[0.086];FNTB[0.874];RASGRP2[0.996];FNTA[0.754];MAPK12[NA];HSP90AB1[NA];PIK3CA[0.831];RASGRF2[0.990];DNAJA3[0.996];PHB[0.998];RGL2[0.041];MAPK1[0.999];BTRC[0.845];TRAF6[0.997];MDFI[0.166];PSMA3[0.795];RBPMS[0.161];BCAS3[0.523];FRAT1[0.891];ZMYND8[0.623];LIMA1[0.747];PML[0.996];ABCD3[0.967];RPS29[0.369];SORBS3[0.763];TXNL4A[0.181];GOLIM4[0.807];MED4[0.704];GATAD2A[0.188];NUP107[0.965];TTC31[0.004];COPS7B[0.213];FAM83D[0.109];C1orf131[0.004];LSM11[0.187];PTGR2[0.551];NCBP2-AS2[0.004];TEDC1[0.004];FAM129B[0.162];DUSP22[0.158];RIN1[0.954];ARL6IP5[0.772];LYPD4[0.820];NDUFA13[0.999];RHOA[0.997];HSPD1[0.970]" + haploinsufficiency: 0.99997 + hipred_score: 0.76946485042572 + hipred: Y + ghis: 0.620930274 + prec: 0.53296 + known_rec_info: "." + rvis_evs: -0.14 + rvis_percentile_evs: 42.88 + lof_fdr_exac: 0.9387169 + rvis_exac: -0.181726402 + rvis_percentile_exac: 37.93747365 + exac_pli: 0.00106119304255182 + exac_prec: 0.603148256118395 + exac_pnull: 0.395790550839053 + exac_nontcga_pli: 0.00567377477963463 + exac_nontcga_prec: 0.721905890068335 + exac_nontcga_pnull: 0.27242033515203 + exac_nonpsych_pli: 0.000800455744248145 + exac_nonpsych_prec: 0.51252706732373 + exac_nonpsych_pnull: 0.486672476932022 + gnomad_pli: 0.71966 + gnomad_prec: 0.26773 + gnomad_pnull: 0.01261 + exac_del_score: 0.0889959436718797 + exac_dup_score: -0.602982016480107 + exac_cnv_score: -0.376348743051731 + exac_cnv_flag: N + gdi: 3.46519 + gdi_phred: 0.12617 + gdp_all_disease_causing: Medium + gdp_all_mendelian: Medium + gdp_all_mendelian_ad: Low + gdp_mendelian_ar: Low + gdp_pid: Medium + gdp_pid_ad: Medium + gdp_pid_ar: Low + gdp_cancer: Medium + gdb_cancer_rec: Low + gdp_cancer_dom: Medium + loftool_score: 0.19 + sorva_lof_maf_5_het_or_hom: 0 + sorva_lof_maf_5_hom_or_comphet: 0 + sorva_lof_maf_1_het_or_hom: 0 + sorva_lof_maf_1_hom_or_comphet: 0 + sorva_lof_or_mis_maf_5_het_or_hom: 0.0011980830670926517 + sorva_lof_or_mis_maf_5_hom_or_comphet: 0 + sorva_lof_or_mis_maf_1_het_or_hom: 0.0011980830670926517 + sorva_lof_or_mis_maf_1_hom_or_comphet: 0 + essential_gene: E + essential_gene_crispr: E + essential_gene_crispr2: N + essential_gene_gene_trap: K + gene_indispensability_score: 0.990177936755523 + gene_indispensability_pred: E + mgi_mouse_gene: Kras + mgi_mouse_phenotype: "muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); growth/size/body region phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); hematopoietic system phenotype; endocrine/exocrine gland phenotype; neoplasm; pigmentation phenotype; limbs/digits/tail phenotype; hearing/vestibular/ear phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); digestive/alimentary phenotype; vision/eye phenotype; immune system phenotype; renal/urinary system phenotype; skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); liver/biliary system phenotype; respiratory system phenotype; normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); reproductive system phenotype; " + zfin_zebrafish_gene: kras + zfin_zebrafish_structure: nucleate erythrocyte + zfin_zebrafish_phenotype_quality: mislocalised + zfin_zebrafish_phenotype_tag: abnormal +- gene_name: TTN + ensembl_gene: ENSG00000155657 + chr: "2" + gene_old_names: CMD1G + gene_other_names: CMPD4;FLJ32040;TMD;CMH9;LGMD2J;MYLK5 + uniprot_acc: Q8WZ42 + uniprot_id: TITIN_HUMAN + entrez_gene_id: "7273" + ccds_id: CCDS54421;CCDS54422;CCDS54423;CCDS54424;CCDS33337;CCDS59435;CCDS74610 + refseq_id: NM_001256850;NM_133378 + ucsc_id: uc031rqc.3 + mim_id: "188840" + omim_id: "188840" + gene_full_name: titin + pathway_uniprot: "." + pathway_biocarta_short: "." + pathway_biocarta_full: "." + pathway_consensus_path_db: "Dilated cardiomyopathy (DCM) - Homo sapiens (human);Hypertrophic cardiomyopathy (HCM) - Homo sapiens (human);Striated Muscle Contraction;Striated Muscle Contraction;Muscle contraction;Platelet degranulation;Response to elevated platelet cytosolic Ca2+;Platelet activation, signaling and aggregation;Hemostasis" + pathway_kegg_id: "." + pathway_kegg_full: "." + function_description: "FUNCTION: Key component in the assembly and functioning of vertebrate striated muscles. By providing connections at the level of individual microfilaments, it contributes to the fine balance of forces between the two halves of the sarcomere. The size and extensibility of the cross-links are the main determinants of sarcomere extensibility properties of muscle. In non-muscle cells, seems to play a role in chromosome condensation and chromosome segregation during mitosis. Might link the lamina network to chromatin or nuclear actin, or both during interphase. {ECO:0000269|PubMed:9804419}." + disease_description: "DISEASE: Hereditary myopathy with early respiratory failure (HMERF) [MIM:603689]: Autosomal dominant, adult-onset myopathy with early respiratory muscle involvement. {ECO:0000269|PubMed:15802564}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Cardiomyopathy, familial hypertrophic 9 (CMH9) [MIM:613765]: A hereditary heart disorder characterized by ventricular hypertrophy, which is usually asymmetric and often involves the interventricular septum. The symptoms include dyspnea, syncope, collapse, palpitations, and chest pain. They can be readily provoked by exercise. The disorder has inter- and intrafamilial variability ranging from benign to malignant forms with high risk of cardiac failure and sudden cardiac death. {ECO:0000269|PubMed:10462489}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Cardiomyopathy, dilated 1G (CMD1G) [MIM:604145]: A disorder characterized by ventricular dilation and impaired systolic function, resulting in congestive heart failure and arrhythmia. Patients are at risk of premature death. {ECO:0000269|PubMed:11788824, ECO:0000269|PubMed:11846417, ECO:0000269|PubMed:16465475}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Tardive tibial muscular dystrophy (TMD) [MIM:600334]: Autosomal dominant, late-onset distal myopathy. Muscle weakness and atrophy are usually confined to the anterior compartment of the lower leg, in particular the tibialis anterior muscle. Clinical symptoms usually occur at age 35-45 years or much later. {ECO:0000269|PubMed:12145747, ECO:0000269|PubMed:12891679}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Limb-girdle muscular dystrophy 2J (LGMD2J) [MIM:608807]: An autosomal recessive degenerative myopathy characterized by progressive weakness of the pelvic and shoulder girdle muscles. Severe disability is observed within 20 years of onset. {ECO:0000269|PubMed:12145747}. Note=The disease is caused by mutations affecting the gene represented in this entry.;DISEASE: Salih myopathy (SALMY) [MIM:611705]: An autosomal recessive, early-onset muscular disorder characterized by dilated cardiomyopathy, delayed motor development with generalized muscle weakness predominantly affecting proximal and distal lower limbs. Skeletal muscle biopsies show minicore-like lesions with mitochondrial depletion and sarcomere disorganization, centralized nuclei, and type 1 fiber predominance. Dystrophic changes become apparent in the second decade. Cardiac muscle biopsies show disruption of myocardial architecture, nuclear hypertrophy, and endomysial fibrosis. Sudden death may occurr due to cardiomyopathy. {ECO:0000269|PubMed:17444505}. Note=The disease is caused by mutations affecting the gene represented in this entry." + mim_phenotype_id: 600334;603689;604145;608807;611705;613765 + mim_disease: "[MIM:603689]Hereditary myopathy with early respiratory failure;[MIM:613765]Cardiomyopathy, familial hypertrophic 9;[MIM:604145]Cardiomyopathy, dilated 1G;[MIM:600334]Tardive tibial muscular dystrophy;[MIM:608807]Limb-girdle muscular dystrophy 2J [recessive?];[MIM:611705]Salih myopathy [recessive?]" + orphanet_disorder_id: 169186;154;178464;140922;324604;293910;293899;293888;289377;466921;609 + orphanet_disorder: "Autosomal recessive centronuclear myopathy;Familial isolated dilated cardiomyopathy;Hereditary myopathy with early respiratory failure;Autosomal recessive limb-girdle muscular dystrophy type 2J;Classic multiminicore myopathy;Familial isolated arrhythmogenic ventricular dysplasia, right dominant form;Familial isolated arrhythmogenic ventricular dysplasia, biventricular form;Familial isolated arrhythmogenic ventricular dysplasia, left dominant form;Early-onset myopathy with fatal cardiomyopathy;Childhood-onset progressive contractures-limb-girdle weakness-muscle dystrophy syndrome;Tibial muscular dystrophy" + orphanet_association_type: Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in;Disease-causing germline mutation(s) (loss of function) in;Disease-causing germline mutation(s) in + trait_association_gwas: "QT interval[20031603;24952745;29213071];Bone mineral density (hip)[30172743];Resting heart rate[27798624];Atrial fibrillation[29290336;29290336;30061737;29892015;29892015];Epstein-Barr virus copy number in lymphoblastoid cell lines[28654678];Breast size[22747683];Waist-to-hip ratio adjusted for BMI x sex interaction[26426971];Heart rate response to recovery post exercise (10 sec)[29497042;29497042];Rapid functional decline in sporadic amyotrophic lateral sclerosis[26746183];Heart rate response to recovery post exercise (20 sec)[29497042]" + hpo_id: "HP:0003687;HP:0011675;HP:0000508;HP:0003198;HP:0003593;HP:0003236;HP:0003577;HP:0000007;HP:0001699;HP:0002650;HP:0008981;HP:0003324;HP:0010628;HP:0001270;HP:0001644;HP:0001371;HP:0030059;HP:0003236;HP:0003202;HP:0002460;HP:0003236;HP:0011463;HP:0003701;HP:0003560;HP:0003676;HP:0000007;HP:0003458;HP:0003828;HP:0008963;HP:0031237;HP:0003458;HP:0003202;HP:0003236;HP:0003722;HP:0003803;HP:0008800;HP:0003557;HP:0012764;HP:0003805;HP:0002091;HP:0002527;HP:0003555;HP:0002792;HP:0002747;HP:0008981;HP:0009027;HP:0100293;HP:0003701;HP:0008978;HP:0000006;HP:0003581;HP:0003458;HP:0003376;HP:0003677;HP:0003829;HP:0003805;HP:0003560;HP:0000982;HP:0003457;HP:0100578;HP:0001644;HP:0003236;HP:0001874;HP:0000407;HP:0003198;HP:0002515;HP:0001618;HP:0001762;HP:0003551;HP:0001761;HP:0003700;HP:0001256;HP:0001270;HP:0000160;HP:0001260;HP:0003691;HP:0000411;HP:0001349;HP:0003803;HP:0000602;HP:0001284;HP:0000193;HP:0000750;HP:0002093;HP:0003307;HP:0001290;HP:0009046;HP:0000278;HP:0003391;HP:0003403;HP:0000276;HP:0003687;HP:0001654;HP:0001712;HP:0003323;HP:0100807;HP:0000218;HP:0003273;HP:0005991;HP:0004889;HP:0001763;HP:0100295;HP:0001290;HP:0002421;HP:0000218;HP:0003306;HP:0000303;HP:0002194;HP:0001667;HP:0001385;HP:0009058;HP:0001708;HP:0003741;HP:0000308;HP:0002828;HP:0030319;HP:0002650;HP:0001508;HP:0001620;HP:0003700;HP:0002877;HP:0001635;HP:0002091;HP:0003327;HP:0004322;HP:0001634;HP:0001644;HP:0000006;HP:0001639;HP:0003557;HP:0003722;HP:0002359;HP:0003547;HP:0003701;HP:0003828;HP:0002792;HP:0003236;HP:0000006;HP:0003805;HP:0009113;HP:0003749;HP:0002355;HP:0009027;HP:0002877;HP:0003581;HP:0002878;HP:0003677;HP:0008981;HP:0003555;HP:0003715;HP:0003731;HP:0003805;HP:0009058;HP:0008180;HP:0031374;HP:0003557;HP:0009027;HP:0009049;HP:0003376;HP:0008959;HP:0003687;HP:0003458;HP:0002312;HP:0003731;HP:0002355;HP:0001678;HP:0012664;HP:0005110;HP:0001644;HP:0000006;HP:0004756;HP:0001635;HP:0006699" + hpo_name: "Centrally nucleated skeletal muscle fibers;Arrhythmia;Ptosis;Myopathy;Infantile onset;Elevated serum creatine kinase;Congenital onset;Autosomal recessive inheritance;Sudden death;Scoliosis;Calf muscle hypertrophy;Generalized muscle weakness;Facial palsy;Motor delay;Dilated cardiomyopathy;Flexion contracture;Mitochondrial depletion;Elevated serum creatine kinase;Skeletal muscle atrophy;Distal muscle weakness;Elevated serum creatine kinase;Childhood onset;Proximal muscle weakness;Muscular dystrophy;Progressive;Autosomal recessive inheritance;EMG: myopathic abnormalities;Variable expressivity;Tibialis muscle weakness;Internally nucleated skeletal muscle fibers;EMG: myopathic abnormalities;Skeletal muscle atrophy;Elevated serum creatine kinase;Neck flexor weakness;Type 1 muscle fiber predominance;Limited hip movement;Increased variability in muscle fiber diameter;Orthopnea;Rimmed vacuoles;Restrictive ventilatory defect;Falls;Muscle fiber splitting;Reduced vital capacity;Respiratory insufficiency due to muscle weakness;Calf muscle hypertrophy;Foot dorsiflexor weakness;Muscle fiber hypertrophy;Proximal muscle weakness;Necrotizing myopathy;Autosomal dominant inheritance;Adult onset;EMG: myopathic abnormalities;Steppage gait;Slow progression;Incomplete penetrance;Rimmed vacuoles;Muscular dystrophy;Palmoplantar keratoderma;EMG abnormality;Lipoatrophy;Dilated cardiomyopathy;Elevated serum creatine kinase;Abnormality of neutrophils;Sensorineural hearing impairment;Myopathy;Waddling gait;Dysphonia;Talipes equinovarus;Difficulty climbing stairs;Pes cavus;Generalized amyotrophy;Intellectual disability, mild;Motor delay;Narrow mouth;Dysarthria;Scapular winging;Protruding ear;Facial diplegia;Type 1 muscle fiber predominance;Ophthalmoplegia;Areflexia;Bifid uvula;Delayed speech and language development;Respiratory insufficiency;Hyperlordosis;Generalized hypotonia;Difficulty running;Retrognathia;Gowers sign;EMG: decremental response of compound muscle action potential to repetitive nerve stimulation;Long face;Centrally nucleated skeletal muscle fibers;Abnormal heart valve morphology;Left ventricular hypertrophy;Progressive muscle weakness;Long fingers;High palate;Hip contracture;Limited neck flexion;Intermittent episodes of respiratory insufficiency due to muscle weakness;Pes planus;Muscle fiber atrophy;Generalized hypotonia;Poor head control;High palate;Spinal rigidity;Mandibular prognathia;Delayed gross motor development;Right ventricular hypertrophy;Hip dysplasia;Increased muscle lipid content;Right ventricular failure;Congenital muscular dystrophy;Microretrognathia;Multiple joint contractures;Weakness of facial musculature;Scoliosis;Failure to thrive;High pitched voice;Generalized amyotrophy;Nocturnal hypoventilation;Congestive heart failure;Restrictive ventilatory defect;Axial muscle weakness;Short stature;Mitral valve prolapse;Dilated cardiomyopathy;Autosomal dominant inheritance;Hypertrophic cardiomyopathy;Increased variability in muscle fiber diameter;Neck flexor weakness;Frequent falls;Shoulder girdle muscle weakness;Proximal muscle weakness;Variable expressivity;Reduced vital capacity;Elevated serum creatine kinase;Autosomal dominant inheritance;Rimmed vacuoles;Diaphragmatic weakness;Pelvic girdle muscle weakness;Difficulty walking;Foot dorsiflexor weakness;Nocturnal hypoventilation;Adult onset;Respiratory failure;Slow progression;Calf muscle hypertrophy;Muscle fiber splitting;Myofibrillar myopathy;Quadriceps muscle weakness;Rimmed vacuoles;Increased muscle lipid content;Mildly elevated creatine kinase;Ankle weakness;Increased variability in muscle fiber diameter;Foot dorsiflexor weakness;Peroneal muscle atrophy;Steppage gait;Distal upper limb muscle weakness;Centrally nucleated skeletal muscle fibers;EMG: myopathic abnormalities;Clumsiness;Quadriceps muscle weakness;Difficulty walking;Atrioventricular block;Reduced ejection fraction;Atrial fibrillation;Dilated cardiomyopathy;Autosomal dominant inheritance;Ventricular tachycardia;Congestive heart failure;Premature atrial contractions" + go_biological_process: platelet degranulation;cardiac muscle hypertrophy;muscle contraction;striated muscle contraction;mitotic chromosome condensation;positive regulation of gene expression;protein kinase A signaling;peptidyl-tyrosine phosphorylation;muscle filament sliding;skeletal muscle thin filament assembly;skeletal muscle myosin thick filament assembly;detection of muscle stretch;sarcomere organization;regulation of protein kinase activity;cardiac muscle fiber development;sarcomerogenesis;positive regulation of protein secretion;regulation of catalytic activity;response to calcium ion;cardiac myofibril assembly;cardiac muscle tissue morphogenesis;cardiac muscle contraction;striated muscle myosin thick filament assembly + go_cellular_component: condensed nuclear chromosome;extracellular region;cytosol;striated muscle thin filament;sarcomere;Z disc;M band;I band;extracellular exosome + go_molecular_function: protease binding;protein serine/threonine kinase activity;protein tyrosine kinase activity;calcium ion binding;protein binding;calmodulin binding;ATP binding;structural constituent of muscle;enzyme binding;protein kinase binding;telethonin binding;identical protein binding;actinin binding;protein self-association;actin filament binding;muscle alpha-actinin binding;structural molecule activity conferring elasticity + tissue_specificity_uniprot: "Isoforms 3, 7 and 8 are expressed in cardiac muscle. Isoform 4 is expressed in vertebrate skeletal muscle. Isoform 6 is expressed in skeletal muscle (at protein level). {ECO:0000269|PubMed:11717165, ECO:0000269|PubMed:7819249}." + expression_egenetics: tongue;alveolus;skin;myocardium;testis;lens;unclassifiable (Anatomical System);choroid;larynx;kidney;uterus;retina;whole body;pancreas;muscle;head and neck;spinal cord;atrium;skeletal muscle;visual apparatus;fovea centralis;spleen;liver;peripheral nerve;bone;germinal center;parathyroid;blood;heart;bone marrow;lung;ovary;thyroid;macula lutea;frontal lobe;colon;placenta;prostate;nasopharynx;optic nerve + expression_gnf_atlas: pons;fetal thyroid;thyroid;tongue;trigeminal ganglion;atrioventricular node;superior cervical ganglion;testis;skeletal muscle;globus pallidus + interactions_intact: "ENO1[23414517];ENO3[23414517];AMOT[23414517];IGHG1[15174051];MYC[21150319];HIST1H2AE[30021884];CAPN3[20860623;23414517];SH3GLB1[23414517];ACTN3[23414517];ACTN2[9501083;16902413;23414517;11101506;11846417];HIST1H2AH[30021884];ACTN1[11101506];FNDC3B[23414517];KRT8[30021884];ACTN4[23414517];OBSCN[11448995;20489725;23414517;20133654];SCO1[29568061];PARD3[23414517];CLIP4[23414517];ERP29[30021884];VDAC1[17353931];HIST1H2BH[30021884];OBSL1[20489725;20133654];OPTN[23414517];ASF1B[17353931];SF1[23414517];MYCBP2[23414517];PIK3R4[30021884];GABARAP[23414517];HNRNPDL[30021884];STK38L[30108113];ANKRD28[23414517];SRPK2[23602568];NEK9[23414517];UBE2I[23414517];SMURF2[18157088];FN1[23414517];HMGA1[30021884];NEB[16902413;12482578];H2BFS[30021884];ESR1[25604459];ESR2[25604459];CCT6A[23414517];HNRNPF[30021884];ALB[15174051];CALU[30021884];TAB2[23414517];STT3B[30021884];CALM1[7607248];HNRNPA1L2[30021884];RYR1[23414517];MYOM1[23414517];SYNM[25447537];DYRK2[23602568];ITGB5[23414517];MAST2[23414517];FHL1[23414517];DYSF[23414517];HSPB2[26465331];MED19[15175163];ARRB1[17620599];ASH2L[23414517];PYGM[23414517];CHD4[23414517];C1QTNF9[23414517];KRI1[30021884];JPH1[23414517];MYOM2[23414517];HK1[29568061];MAP1LC3B[20562859];MED10[15175163];ANKRD1[23414517];PHGDH[23414517];NEO1[23414517];SGCG[23414517];HIST1H1B[30021884];HIST1H1C[30021884];SUN2[22555292];DFFA[17353931];MYBPC1[23414517];TRIM63[18157088;23414517];MYBPC2[23414517];DDX56[17353931];MED26[15175163];YWHAZ[20618440];HIST2H2BF[30021884];MED29[15175163];HIST2H2BE[30021884];VAV2[18654987;23414517];ACTA2[9501083];RNF167[23414517];PKM[24606918];ITGB1BP2[23414517];RPL12[23414517];POMP[23414517];FSTL1[20860622];TTN[9804419;23414517;16407954;16962974];ABLIM1[23414517];ABLIM2[23414517];EXOSC10[23414517];UGP2[23414517];ATP5F1B[30021884];PUF60[17353931];DNAJB6[23414517];DNAJB5[23414517];FLNA[16902413];EBLN1[30021884];NPM1[30021884];MCRS1[17353931];MYBPH[23414517];HSPE1[30021884];ATP5F1D[23414517];KTN1[30021884];RSL1D1[30021884];TTC3[23414517];HNRNPA2B1[30021884];TCAP[16962094;23414517;15582318;11846417;16407954;19622741];TARDBP[30021884];LIMS1[23414517];HSPA1A[23414517]" + interactions_biogrid: "CEP57[23443559];TOP2A[27453043];DYRK2[23602568];FHL1[22778266];FHL2[12432079];HSPB2[26465331];ARRB1[17620599];BRCA1[26831064];MYPN[14583192];RBM3[26472337];TUBA1A[27453043];YWHAQ[20618440];HEY1[27129302];CDH1[25468996];CHEK2[27453043];CHEK1[27453043];ANKRD1[14583192];CAPN3[9642272;8537379];ANXA7[26344197];ANKRD2[14583192];MYBPC3[8631348];TLE3[28514442];MAP2K1[27453043];TRIM63[11243782;15967462;17215480;24850911;18157088];ACTN1[11305911;9501083];TSC22D2[27337956];TOP3A[27453043];ANK1[12444090];VAV2[18654987];ADAM2[28514442];OBSCN[11448995;17716621];EWSR1[24999758];GAN[26460568];SRSF2[22939629];RAPGEF2[25332235];TOP1[27453043];SQSTM1[15802564];CRYAB[14676215];TRIM55[18157088];ASF1B[17353931];MCM2[25963833];CUL7[24711643];CUL3[21145461];CUL2[21145461];NEDD8[21145461];ADRB2[23798571];RNF2[24457600];EGFR[28065597];PUF60[17353931];LMNA[25948554];MAPK1[22778266;27453043];SPEN[22939629];SRPK2[23602568];NTRK1[25921289];CPSF6[22939629];ANKRD23[14583192];UBE2A[28031328];WEE1[27453043];COPS5[21145461];SP1[22266860];NBR1[15802564];CDK2[21319273;25852190];ALB[15174051];TCAP[9817758;9804419;12446666;9645487;15802564];CALM1[7607248];CUL4B[21145461]" + interactions_consensus_path_db: "TSGA10[0.008];ADRB2[0.377];SMURF2[0.800];CAPN3[0.999];MAST2[0.947];SH3GLB1[0.802];OBSCN[1];TCAP[1];MYBPC2[0.999];DYSF[0.829];RNF167[0.144];FNDC3B[0.378];MCRS1[0.998];DNAJB6[0.846];NEO1[0.021];PUF60[0.891];DNAJB5[0.946];ACTN2[0.999];PHGDH[0.999];EXOSC10[0.987];LIMS1[0.655];NEB[1];OBSL1[0.999];MED25[NA];MED15[NA];HAUS7[NA];SRSF3[NA];NONO[NA];CDK8[NA];MED23[NA];HSPA1L[NA];POLR2I[NA];POLR2L[NA];NOP58[NA];MED8[NA];TARDBP[NA];MYBBP1A[NA];DDX3X[NA];MED19[NA];POLR2F[NA];U2SURP[NA];CMSS1[NA];POLR2E[NA];EEF1A1[NA];MED6[NA];CDK19[NA];POLR2D[NA];MED12[NA];TMLHE[NA];DDX20[NA];MED21[NA];MED9[NA];MED29[NA];MED22[NA];ZBTB9[NA];POLR2J[NA];MED10[NA];MED13L[NA];EXOC4[NA];MED28[NA];MED13[NA];POLR2B[NA];AIFM1[NA];MED17[NA];DNM2[NA];MED24[NA];MED14[NA];TRMT112[NA];DNAJA1[NA];POLR2G[NA];LUC7L3[NA];TMPO[NA];MED18[NA];RBM39[NA];SNRPD1[NA];HNRNPM[NA];MED7[NA];MED1[NA];POLR2A[NA];BAG2[NA];CCT3[NA];POLR2H[NA];CCNC[NA];MED4[NA];DIMT1[NA];MED27[NA];DICER1[NA];MED20[NA];MED11[NA];DNALI1[NA];DDX31[NA];MED30[NA];PRPF19[NA];DDX52[NA];POLR2C[NA];GCN1[NA];MED31[NA];MED16[NA];MED26[NA];PTBP1[NA];ATP5F1D[0.903];TRIM63[0.983];ECH1[NA];SYAP1[NA];KIAA1191[NA];UQCRC2[NA];ATAD3B[NA];C1orf198[NA];CLPB[NA];COX4I1[NA];CCDC58[NA];MRPS31[NA];ETFB[NA];HCCS[NA];NDUFA5[NA];TIMM9[NA];COX11[NA];APOOL[NA];NDUFS6[NA];CHCHD4[NA];CCDC51[NA];MRPS23[NA];AK2[NA];NDUFS7[NA];UBR4[NA];MICU2[NA];HAX1[NA];COX19[NA];ENDOG[NA];TMEM126B[NA];ACOT2[NA];SLC25A12[NA];YME1L1[NA];CMC2[NA];PTCD3[NA];OPA1[NA];IARS2[NA];MAVS[NA];COA6[NA];COX15[NA];SEC16A[NA];COX16[NA];ATP5F1C[NA];TIMM10[NA];ATP5PB[NA];ETFA[NA];OCIAD1[NA];NDUFA7[NA];LETM1[NA];UQCRC1[NA];TOMM70[NA];ATP5PO[NA];MTX3[NA];CRYBG3[NA];PYCR1[NA];PYCR2[NA];SNAP29[NA];FAM136A[NA];TIMM8B[NA];CMC4[NA];LACTB[NA];CDCA3[NA];CHCHD3[NA];CLPX[NA];TOMM22[NA];SCO1[NA];TIMM13[NA];IMMT[NA];TIMMDC1[NA];CPOX[NA];MRPS14[NA];GFER[NA];COA7[NA];NDUFS1[NA];COX17[NA];AFG3L2[NA];MTX2[NA];AKAP1[NA];TRIAP1[NA];COX6B1[NA];TTC19[NA];SAMM50[NA];MRPS22[NA];NDUFS2[NA];NUP93[NA];NDUFA8[NA];ATP5PF[NA];SMIM12[NA];ACOT1[NA];SLC25A13[NA];NDUFS3[NA];FHL3[NA];DNAJC11[NA];AKAP12[NA];CHCHD6[NA];SCO2[NA];BIRC6[NA];TIMM8A[NA];COX5A[NA];GLS[NA];MRPS36[NA];COX5B[NA];CLPP[NA];MYBPH[1];ASF1B[0.990];MYOM1[1];FLNA[0.999];TTC3[0.843];ITGB5[0.811];MYCBP2[0.965];ENO3[0.893];UBE2I[0.997];VAV2[0.988];DYRK2[NA];RB1CC1[NA];DYRK4[NA];MYZAP[NA];POLR2E[NA];POLR2F[NA];MED19[NA];MED8[NA];RECQL5[NA];POLR2L[NA];POLR2I[NA];HSPA1L[NA];MED23[NA];CDK8[NA];MED15[NA];MED25[NA];MED24[NA];MED17[NA];POLR2B[NA];MED28[NA];AFF4[NA];MED22[NA];EIF4A1[NA];MED9[NA];MED21[NA];MED12[NA];POLR2D[NA];CDK19[NA];MED26[NA];MED6[NA];DCD[NA];KPNA4[NA];MED16[NA];MED31[NA];P4HB[NA];POLR2C[NA];MED30[NA];MED11[NA];MED20[NA];SMN1[NA];KANSL3[NA];MED27[NA];GPN3[NA];MED4[NA];POLR2H[NA];POLR2A[NA];UBR5[NA];RPAP2[NA];MED1[NA];MED7[NA];HNRNPM[NA];DDX50[NA];MED18[NA];TMPO[NA];P3H1[NA];POLR2G[NA];MED14[NA];MED13[NA];MED13L[NA];MED10[NA];POLR2J[NA];MED29[NA];ELL2[NA];RYR1[0.999];ACTN3[0.999];ASH2L[0.979];SGCG[0.984];FHL1[0.937];SYNM[0.999];MYOM2[1];MIPEP[NA];ERBIN[NA];SEC31B[NA];NRXN3[NA];HSPA8[NA];TUBA4A[NA];MFGE8[NA];ARSB[NA];CSPP1[NA];ATAD3B[NA];RAB11FIP5[NA];UBC[NA];SPEG[NA];SDK1[NA];IL4R[NA];PTPN14[NA];LMO7[NA];NLRX1[NA];DOCK7[NA];NAV2[NA];RCOR3[NA];LRPPRC[NA];CNMD[NA];RIMS2[NA];ASPM[NA];IQCE[NA];CEP170[NA];IK[NA];SCO2[NA];KIF25[NA];MICALL2[NA];LMNA[NA];MLH3[NA];IKZF2[NA];PDZD2[NA];SPATA31E1[NA];TUT4[NA];MAX[NA];FAM122B[NA];XDH[NA];AMOTL2[NA];ROBO2[NA];CAVIN1[NA];MYC[NA];RIN3[NA];CAVIN3[NA];XYLT1[NA];DDX56[0.984];CLIP4[0.004];ACTN1[0.999];CCT6A[0.920];UGP2[0.778];ANKRD28[0.912];SRPK2[0.983];ACTN4[0.999];ENO1[0.999];CNP[NA];LYZ[NA];HADHA[NA];DDB1[NA];SRRM2[NA];CCDC25[NA];SMARCAD1[NA];PTCD3[NA];USH2A[NA];KRT24[NA];SRSF5[NA];CYCS[NA];KRT72[NA];GOLPH3[NA];PLEC[NA];TOGARAM1[NA];PDIA6[NA];RBMX[NA];CCT7[NA];TMF1[NA];HYOU1[NA];RPS26P11[NA];CFAP47[NA];KRT78[NA];IKZF5[NA];CALM3[NA];SUPT6H[NA];DCTN2[NA];SQOR[NA];PSMC1[NA];KRT4[NA];PRKCSH[NA];SF3B3[NA];PPP6C[NA];OCRL[NA];KRT36[NA];CCT6A[NA];PRMT5[NA];HSP90AB3P[NA];RPS18[NA];VPS13C[NA];PSMC2[NA];KLHL41[NA];MCM2[NA];KRT34[NA];SEC22B[NA];MYO16[NA];KRT15[NA];TARDBP[NA];HGH1[NA];PSMC4[NA];CCT3[NA];KRT31[NA];SART3[NA];DLAT[NA];OR4K3[NA];PSMD11[NA];OGDH[NA];MYLK2[NA];ACTN1[NA];HSPG2[NA];NUP205[NA];GAL3ST4[NA];TUBB3[NA];ESR2[NA];ARCN1[NA];PSMD4[NA];LARS[NA];KRT37[NA];COPB2[NA];COG6[NA];CAD[NA];RNFT2[NA];RPLP0P6[NA];PABPC3[NA];PSMD1[NA];PSMD13[NA];CAPZA1[NA];KRT75[NA];MRPL38[NA];LRRC8E[NA];FLG[NA];RUVBL2[NA];DSP[NA];RPS12[NA];NUDT2[NA];PSMC5[NA];CCDC87[NA];PI4KA[NA];LZTS3[NA];PREPL[NA];CTNNA2[NA];RPL12[NA];SNED1[NA];RPL14[NA];KRT33B[NA];RPL4[NA];OBSCN[NA];PSMC6[NA];BRD3[NA];PCBP1[NA];GTF3C1[NA];PSMB6[NA];TCP1[NA];SCRIB[NA];ACTN4[NA];RPS26[NA];KRTAP3-2[NA];KRT86[NA];SEC16A[NA];DCD[NA];PCBP3[NA];KIF5A[NA];FLG2[NA];TUBB4A[NA];P4HB[NA];MIA3[NA];CAPZA2[NA];COPG2[NA];EEF1G[NA];FLNA[NA];MYH9[NA];GORASP1[NA];ACTR1A[NA];RARB[NA];DLD[NA];MRPS9[NA];PSMD2[NA];SLC25A5[NA];KRT85[NA];SRSF2[NA];PPP1CA[NA];NFKB2[NA];POLDIP2[NA];SEC13[NA];RPS4X[NA];EPRS[NA];KRTAP3-1[NA];POLR2C[NA];PTBP1[NA];MED26[NA];MED16[NA];MED31[NA];MED13[NA];MED13L[NA];MED10[NA];POLR2J[NA];MED29[NA];ELL2[NA];POLR2G[NA];MED14[NA];MED1[NA];MED7[NA];RBM39[NA];MED18[NA];CCNC[NA];POLR2H[NA];POLR2A[NA];DDX3X[NA];MED11[NA];MED20[NA];KANSL3[NA];MED27[NA];TARDBP[NA];MED8[NA];MED4[NA];CCAR1[NA];POLR2K[NA];POLR2E[NA];MED30[NA];POLR2F[NA];MED19[NA];EEF1A1[NA];MED9[NA];MED21[NA];HDAC6[NA];TMLHE[NA];MED12[NA];POLR2D[NA];CDK19[NA];MED6[NA];POLR2B[NA];MED28[NA];AFF4[NA];MED22[NA];EIF4A1[NA];MED24[NA];MED17[NA];MED23[NA];CDK8[NA];NONO[NA];MED15[NA];MED25[NA];POLR2L[NA];RECQL5[NA];POLR2I[NA];HSPA1L[NA];JPH1[0.999];POMP[0.913];AMOT[0.967];RPL12[0.995];NEK9[0.812];ABLIM2[0.996];ANKRD1[0.999];CHD4[0.990];CALM3[0.999];GABARAP[0.993];VDAC1[0.903];HK1[NA];GNB4[NA];MAGED2[NA];ECH1[NA];ANXA2P2[NA];HAGH[NA];LRRC49[NA];ZFP14[NA];ARF4[NA];SEC16A[NA];ATP5F1C[NA];GRPEL1[NA];TPM4[NA];TAB2[0.905];ABLIM1[0.995];H1F0[NA];MYH9[NA];HNRNPC[NA];YWHAE[NA];MYL3[NA];TSC2[NA];VASP[NA];HIST1H4A[NA];YWHAZ[NA];MYLK2[NA];MYH2[NA];YWHAG[NA];H2AFX[NA];MYL12A[NA];LMNA[NA];MYH11[NA];ATP5F1A[NA];ANKRD18A[NA];TGIF2LY[NA];RALY[NA];ACTG1[NA];ACTB[NA];HNRNPA2B1[NA];CEP250[NA];CACNA1S[NA];VIM[NA];CBL[NA];MYH7[NA];YWHAH[NA];TPM1[NA];KRT18[NA];KRT8[NA];DES[NA];BANK1[NA];CALM3[NA];ACTN3[NA];HIST1H1T[NA];ACTN2[NA];HIST1H1C[NA];HIST1H2BD[NA];ACTA2[NA];HIST1H1D[NA];KRT17[NA];MYH13[NA];RPS3[NA];HIST1H2AG[NA];MYH3[NA];TUBB2A[NA];YWHAQ[NA];USP42[NA];PYGM[0.860];ACTN2[NA];ACTA2[NA];ITGB1BP2[1];OPTN[0.852];MED1[NA];MED7[NA];HNRNPM[NA];SNRPD1[NA];RBM39[NA];DDX50[NA];ZNF281[NA];MED18[NA];TMPO[NA];LUC7L3[NA];CCNC[NA];ACIN1[NA];BAG2[NA];POLR2H[NA];RUVBL1[NA];POLR2A[NA];UBR5[NA];SMC4[NA];RPAP2[NA];MED11[NA];MED20[NA];SMN1[NA];AHCTF1[NA];NOC4L[NA];MED27[NA];TCOF1[NA];MED4[NA];ANAPC1[NA];CHD9[NA];MED30[NA];DDX31[NA];DNALI1[NA];GCN1[NA];IPO4[NA];DDX52[NA];POLR2C[NA];PTBP1[NA];MED26[NA];MED16[NA];MED31[NA];ZCCHC10[NA];MED13[NA];POLR2B[NA];MED28[NA];DDX21[NA];PPIG[NA];AFF4[NA];MED13L[NA];POLR2J[NA];ZBTB9[NA];MED10[NA];MED29[NA];ELL2[NA];MED22[NA];EIF4A1[NA];RNPS1[NA];DNAJA1[NA];LMNA[NA];POLR2G[NA];DDB1[NA];MED14[NA];UBTF[NA];KPNA2[NA];MED24[NA];MED17[NA];RANGAP1[NA];PRPF4B[NA];DNM2[NA];ANAPC5[NA];MED23[NA];CDK8[NA];RSL1D1[NA];NONO[NA];SRSF3[NA];FBL[NA];PNN[NA];HCFC1[NA];ANAPC2[NA];MED15[NA];MED25[NA];NOP58[NA];HSPD1[NA];POLR2L[NA];POLR2I[NA];HSPA1L[NA];NOLC1[NA];DDX3X[NA];NUMA1[NA];MYBBP1A[NA];HSPA9[NA];TARDBP[NA];MED8[NA];NOL8[NA];NOP56[NA];U2SURP[NA];POLR2E[NA];CMSS1[NA];MED19[NA];POLR2F[NA];EEF1A1[NA];MED9[NA];CDC23[NA];MED21[NA];DDX20[NA];MED12[NA];HDAC6[NA];POLR2D[NA];CDK19[NA];DDX39B[NA];MED6[NA];SEC16A[NA];WDR26[NA];IARS[NA];TUBB6[NA];DDX17[NA];RPS5[NA];COPG2[NA];PABPC1L[NA];HUWE1[NA];RUVBL2[NA];RPS12[NA];GALK1[NA];GSN[NA];DARS[NA];PHGDH[NA];PPP6R1[NA];ACTN4[NA];RPS26[NA];YWHAZ[NA];CCT3[NA];ATP5F1B[NA];C20orf197[NA];TUBB3[NA];MYLK2[NA];RPLP0P6[NA];PABPC3[NA];PSMD1[NA];LANCL1[NA];PRDX3[NA];TBR1[NA];SEMG2[NA];SEMG1[NA];KRT13[NA];DYNC1H1[NA];RARB[NA];WRNIP1[NA];FLNA[NA];MYH9[NA];MCM2[NA];LRRFIP1[NA];PSMC2[NA];SFPQ[NA];RARA[NA];PSMD2[NA];MYH14[NA];NFKB2[NA];SEC22B[NA];FASN[NA];ESR1[NA];RPS4X[NA];EPRS[NA];KRT15[NA];RPS26P11[NA];HYOU1[NA];KRT79[NA];CCT7[NA];SLC25A6[NA];CFAP47[NA];KRT35[NA];KRT78[NA];PRKCSH[NA];PSMC1[NA];KRT4[NA];DCTN2[NA];MARS[NA];RPS14[NA];S100A8[NA];DNAJA1[NA];DDX5[NA];PDIA6[NA];IMPDH2[NA];PLOD3[NA];KATNAL2[NA];TUBAL3[NA];TUBA1B[NA];PSMC4[NA];RPLP0[NA];LARS[NA];CAD[NA];KRT37[NA];NONO[NA];LPCAT1[NA];DFFA[0.998];SF1[0.988];MYBPC1[1];FSTL1[0.180];UBA1[NA];COPG1[NA];EIF4A1[NA];CCDC87[NA];EEF1A1[NA];EIF1AD[NA];HNRNPH1[NA];SUN2[NA];LMNA[NA];HSPB2[0.927];FN1[0.999];FHL2[0.999];MYBPC3[1];MYLK3[NA];SGO2[NA];SETX[NA];OR3A2[NA];KCNMA1[NA];PDZRN4[NA];SACS[NA];NCOA3[NA];SH3BP5[NA];CABLES1[NA];CFB[NA];HPX[NA];ITGA2[NA];F2[NA];KRT5[NA];OBSL1[NA];CFH[NA];PPBP[NA];CRB1[NA];APOC1[NA];PDE4B[NA];KRT9[NA];CEP44[NA];CDCP1[NA];PHC3[NA];AP4E1[NA];ZNF232[NA];PRSS3[NA];APOC2[NA];APOA4[NA];QTRT2[NA];GJC2[NA];GABBR1[NA];AP1M1[NA];RANBP3[NA];TTR[NA];F7[NA];SLC1A5[NA];PALB2[NA];KRT1[NA];PLA2G4F[NA];APOC3[NA];TIAM1[NA];CACNA1I[NA];DERL1[NA];FGA[NA];CFD[NA];ZNF292[NA];APOA2[NA];OR2T6[NA];KRT10[NA];SPATA31A7[NA];APOA1[NA];RYR2[NA];CLCA2[NA];GSN[NA];SCAF1[NA];LAT[NA];KRT6B[NA];APOE[NA];SLC25A13[NA];JARID2[NA];DDB1[NA];PCED1B[NA];ITIH1[NA];AHSG[NA];KIAA1551[NA];TTPAL[NA];DMD[NA];KIAA0232[NA];CROT[NA];OR8D2[NA];AMPD3[NA];ITGB5[NA];KRT16[NA];PCDH1[NA];ST13[NA];MYL4[NA];SLC9A8[NA];SCN5A[NA];IGHG1[NA];TRAPPC11[NA];DGKG[NA];RLF[NA];FN1[NA];EXOC6[NA];TSC22D1[NA];PF4V1[NA];IGDCC4[NA];DICER1[NA];AGA[NA];SPAST[NA];HP[NA];LDB3[NA];CAMTA1[NA];GRAP2[NA];ATM[NA];SLA2[NA];NPHS1[NA];TLN2[NA];THRAP3[NA];CDC45[NA];SERPING1[NA];CTSL[NA];NLRC4[NA];KRT13[NA];CHKB[NA];FAM71E2[NA];ALB[NA];KRT14[NA];GFAP[NA];GCN1[NA];KRT6A[NA];SORBS3[NA];RANBP2[NA];CNOT1[NA];DCD[NA];CST3[NA];PEG3[NA];KLK3[NA];ADRA1B[NA];PLAG1[NA];ACTA1[1];CRYAB[0.755];ANKRD2[1];ANKRD23[0.999];ANK1[0.999];MYH9[0.996];NBR1[0.999];MYPN[0.999];YWHAQ[0.961];ARRB1[0.997];SP1[0.570];SQSTM1[0.984];CUL3[0.987];CUL4B[0.418];CUL2[0.11];CDK2[0.999];COPS5[0.938];NEDD8[0.975];SRSF2[0.957];SPEN[0.939];CPSF6[0.944];ALB[0.998];DYRK2[0.592];CEP57[0.997];TRIM55[0.979];RAPGEF2[0.037];MAPK1[0.994];CUL7[0.985];RNF2[0.998];NTRK1[0.759];ANXA7[0.928];EWSR1[0.620];GAN[0.984];MCM2[0.999];TSC22D2[0.008];CDH1[0.769];EGFR[0.893];TLE3[0.973];ADAM2[0.453];RBM3[0.926];UBE2A[0.999];HEY1[0.734];BRCA1[0.997];LMNA[0.999];KY[0.999];HLA-A[NA];B2M[NA];ACTA2[1]" + haploinsufficiency: 0.40699 + hipred_score: 0.414402037858963 + hipred: N + ghis: 0.504755501 + prec: 0.38418 + known_rec_info: "." + rvis_evs: 2.17 + rvis_percentile_evs: 98.04 + lof_fdr_exac: 0.0000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000015993 + rvis_exac: 3.161811341 + rvis_percentile_exac: 99.50003012 + exac_pli: 0.0000000000000000000000000000000121111377105808 + exac_prec: 1 + exac_pnull: 0.000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000579491096992649 + exac_nontcga_pli: 0.0000000000000000000541132746419792 + exac_nontcga_prec: 1 + exac_nontcga_pnull: 0.000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000155476328983857 + exac_nonpsych_pli: 0.000000000000000000900554453364465 + exac_nonpsych_prec: 1 + exac_nonpsych_pnull: 0.0000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000488337429678558 + gnomad_pli: 0.000000000000000000000000000000000000000000000000000000037438 + gnomad_prec: 1 + gnomad_pnull: 0.00000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000013385 + exac_del_score: "." + exac_dup_score: "." + exac_cnv_score: "." + exac_cnv_flag: "." + gdi: 74772.86558 + gdi_phred: 42.91324 + gdp_all_disease_causing: High + gdp_all_mendelian: High + gdp_all_mendelian_ad: High + gdp_mendelian_ar: High + gdp_pid: High + gdp_pid_ad: High + gdp_pid_ar: High + gdp_cancer: High + gdb_cancer_rec: High + gdp_cancer_dom: High + loftool_score: 0.971 + sorva_lof_maf_5_het_or_hom: 0.017172523961661343 + sorva_lof_maf_5_hom_or_comphet: 0.0011980830670926517 + sorva_lof_maf_1_het_or_hom: 0.012779552715654952 + sorva_lof_maf_1_hom_or_comphet: 0.0011980830670926517 + sorva_lof_or_mis_maf_5_het_or_hom: 0.7827476038338658 + sorva_lof_or_mis_maf_5_hom_or_comphet: 0.5171725239616614 + sorva_lof_or_mis_maf_1_het_or_hom: 0.5499201277955271 + sorva_lof_or_mis_maf_1_hom_or_comphet: 0.2496006389776358 + essential_gene: E + essential_gene_crispr: N + essential_gene_crispr2: N + essential_gene_gene_trap: N + gene_indispensability_score: 0.94905308480722 + gene_indispensability_pred: E + mgi_mouse_gene: Ttn + mgi_mouse_phenotype: "growth/size/body region phenotype; muscle phenotype; craniofacial phenotype; cellular phenotype; homeostasis/metabolism phenotype; skeleton phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); normal phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); vision/eye phenotype; immune system phenotype; " + zfin_zebrafish_gene: ttn.1 + zfin_zebrafish_structure: skeletal muscle cell + zfin_zebrafish_phenotype_quality: disorganized + zfin_zebrafish_phenotype_tag: abnormal + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap new file mode 100644 index 00000000..44abb613 --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_decipher_hi_record.snap @@ -0,0 +1,85 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- hgnc_id: "HGNC:100" + hgnc_symbol: ASIC1 + p_hi: 0.372226278 + hi_index: 22.59 +- hgnc_id: "HGNC:10000" + hgnc_symbol: RGS4 + p_hi: 0.307829343 + hi_index: 27.02 +- hgnc_id: "HGNC:10001" + hgnc_symbol: RGS5 + p_hi: 0.254559645 + hi_index: 31.16 +- hgnc_id: "HGNC:10002" + hgnc_symbol: RGS6 + p_hi: 0.590032694 + hi_index: 12.13 +- hgnc_id: "HGNC:10003" + hgnc_symbol: RGS7 + p_hi: 0.625263603 + hi_index: 10.93 +- hgnc_id: "HGNC:10004" + hgnc_symbol: RGS9 + p_hi: 0.076663554 + hi_index: 55.97 +- hgnc_id: "HGNC:10006" + hgnc_symbol: RHAG + p_hi: 0.112613028 + hi_index: 48.74 +- hgnc_id: "HGNC:10007" + hgnc_symbol: RHBDL1 + p_hi: 0.12245953 + hi_index: 47.03 +- hgnc_id: "HGNC:10008" + hgnc_symbol: RHCE + p_hi: 0.008358084 + hi_index: 82.29 +- hgnc_id: "HGNC:10009" + hgnc_symbol: RHD + p_hi: 0.008254663 + hi_index: 82.4 +- hgnc_id: "HGNC:1001" + hgnc_symbol: BCL6 + p_hi: 0.913517921 + hi_index: 3.15 +- hgnc_id: "HGNC:10011" + hgnc_symbol: RHEB + p_hi: 0.789197392 + hi_index: 6.12 +- hgnc_id: "HGNC:10012" + hgnc_symbol: RHO + p_hi: 0.941179124 + hi_index: 2.44 +- hgnc_id: "HGNC:10013" + hgnc_symbol: GRK1 + p_hi: 0.090604558 + hi_index: 53.1 +- hgnc_id: "HGNC:10017" + hgnc_symbol: RIT2 + p_hi: 0.362346922 + hi_index: 23.27 +- hgnc_id: "HGNC:10018" + hgnc_symbol: RING1 + p_hi: 0.223170581 + hi_index: 34.04 +- hgnc_id: "HGNC:10019" + hgnc_symbol: RIPK1 + p_hi: 0.094475501 + hi_index: 52.24 +- hgnc_id: "HGNC:1002" + hgnc_symbol: BCL6B + p_hi: 0.213572706 + hi_index: 35.16 +- hgnc_id: "HGNC:10020" + hgnc_symbol: RIPK2 + p_hi: 0.393221381 + hi_index: 21.18 +- hgnc_id: "HGNC:10021" + hgnc_symbol: RIPK3 + p_hi: 0.001720654 + hi_index: 91.79 + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap new file mode 100644 index 00000000..f96a4212 --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_domino_record.snap @@ -0,0 +1,43 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- gene_symbol: SF3B1 + score: 0.99999987 +- gene_symbol: CSNK2A1 + score: 0.99999894 +- gene_symbol: LHX2 + score: 0.99999882 +- gene_symbol: DACH1 + score: 0.99999843 +- gene_symbol: PAX6 + score: 0.99999815 +- gene_symbol: PRPF8 + score: 0.99999699 +- gene_symbol: ATP2B1 + score: 0.99999646 +- gene_symbol: DYNC1H1 + score: 0.99999641 +- gene_symbol: PIK3CA + score: 0.99999578 +- gene_symbol: PTEN + score: 0.99999549 +- gene_symbol: TBL1XR1 + score: 0.99999526 +- gene_symbol: HNRNPR + score: 0.99999428 +- gene_symbol: TOP2B + score: 0.99999406 +- gene_symbol: GSK3B + score: 0.99999361 +- gene_symbol: CDK8 + score: 0.99999266 +- gene_symbol: XPO1 + score: 0.99999264 +- gene_symbol: SREBF1 + score: 0.99999208 +- gene_symbol: PIAS1 + score: 0.99999156 +- gene_symbol: NR2F2 + score: 0.99999147 + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap new file mode 100644 index 00000000..831d9752 --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@2.1.snap @@ -0,0 +1,80 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- ensembl_gene_id: ENSG00000133703 + entrez_id: "3845" + gene_symbol: KRAS + exp_lof: 9.5335 + exp_mis: 97.354 + exp_syn: 34.508 + mis_z: 2.3177 + obs_lof: 6 + obs_mis: 33 + obs_syn: 32 + oe_lof: 0.62936 + oe_lof_lower: 0.344 + oe_lof_upper: 1.24 + oe_mis: 0.33897 + oe_mis_lower: 0.256 + oe_mis_upper: 0.453 + oe_syn: 0.92733 + oe_syn_lower: 0.699 + oe_syn_upper: 1.246 + pli: 0.00078803 + syn_z: 0.33557 + exac_pli: 0.0010612 + exac_obs_lof: 5 + exac_exp_lof: 6.3596 + exac_oe_lof: 0.78621 +- ensembl_gene_id: ENSG00000157764 + entrez_id: "673" + gene_symbol: BRAF + exp_lof: 50.21 + exp_mis: 416.75 + exp_syn: 153.49 + mis_z: 3.7208 + obs_lof: 5 + obs_mis: 203 + obs_syn: 157 + oe_lof: 0.099581 + oe_lof_lower: 0.051 + oe_lof_upper: 0.209 + oe_mis: 0.48711 + oe_mis_lower: 0.434 + oe_mis_upper: 0.547 + oe_syn: 1.0229 + oe_syn_lower: 0.897 + oe_syn_upper: 1.168 + pli: 0.99995 + syn_z: -0.22259 + exac_pli: 0.99998 + exac_obs_lof: 2 + exac_exp_lof: 38.79 + exac_oe_lof: 0.05156 +- ensembl_gene_id: ENSG00000155657 + entrez_id: "7273" + gene_symbol: TTN + exp_lof: 1331.1 + exp_mis: 17648 + exp_syn: 6410.1 + mis_z: -1.1021 + obs_lof: 435 + obs_mis: 18060 + obs_syn: 6427 + oe_lof: 0.3268 + oe_lof_lower: 0.301 + oe_lof_upper: 0.354 + oe_mis: 1.0233 + oe_mis_lower: 1.01 + oe_mis_upper: 1.036 + oe_syn: 1.0026 + oe_syn_lower: 0.981 + oe_syn_upper: 1.023 + pli: 0.0000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000000025582 + syn_z: -0.16611 + exac_pli: 0.000000000000000000000000000000012111 + exac_obs_lof: 247 + exac_exp_lof: 893.88 + exac_oe_lof: 0.27632 + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap new file mode 100644 index 00000000..f09e7c79 --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gnomad_constraints@4.0.snap @@ -0,0 +1,194 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- ensembl_gene_id: ENSG00000121410 + entrez_id: "1" + gene_symbol: A1BG + exp_lof: 43.008 + exp_mis: 646.45 + exp_syn: 295.68 + mis_z: -0.86948 + obs_lof: 45 + obs_mis: 707 + obs_syn: 316 + oe_lof: 1.0463 + oe_lof_lower: 0.823 + oe_lof_upper: 1.342 + oe_mis: 1.0937 + oe_mis_lower: 1.027 + oe_mis_upper: 1.164 + oe_syn: 1.0687 + oe_syn_lower: 0.974 + oe_syn_upper: 1.173 + pli: 0.00000000000000017129 + syn_z: -0.64437 +- ensembl_gene_id: ENSG00000148584 + entrez_id: "29974" + gene_symbol: A1CF + exp_lof: 69.896 + exp_mis: 744.8 + exp_syn: 272.29 + mis_z: 1.2281 + obs_lof: 45 + obs_mis: 653 + obs_syn: 272 + oe_lof: 0.64381 + oe_lof_lower: 0.506 + oe_lof_upper: 0.825 + oe_mis: 0.87674 + oe_mis_lower: 0.821 + oe_mis_upper: 0.935 + oe_syn: 0.99895 + oe_syn_lower: 0.904 + oe_syn_upper: 1.104 + pli: 0.00000000074328 + syn_z: 0.0094264 +- ensembl_gene_id: ENSG00000175899 + entrez_id: "2" + gene_symbol: A2M + exp_lof: 147.1 + exp_mis: 1631.7 + exp_syn: 624.65 + mis_z: 2.7451 + obs_lof: 95 + obs_mis: 1328 + obs_syn: 541 + oe_lof: 0.64584 + oe_lof_lower: 0.546 + oe_lof_upper: 0.766 + oe_mis: 0.81386 + oe_mis_lower: 0.777 + oe_mis_upper: 0.852 + oe_syn: 0.86608 + oe_syn_lower: 0.806 + oe_syn_upper: 0.93 + pli: 0.000000000000000000091331 + syn_z: 1.8251 +- ensembl_gene_id: ENSG00000166535 + entrez_id: "144568" + gene_symbol: A2ML1 + exp_lof: 175.89 + exp_mis: 1784.1 + exp_syn: 680.92 + mis_z: 1.6427 + obs_lof: 146 + obs_mis: 1594 + obs_syn: 636 + oe_lof: 0.83121 + oe_lof_lower: 0.725 + oe_lof_upper: 0.954 + oe_mis: 0.89347 + oe_mis_lower: 0.857 + oe_mis_upper: 0.931 + oe_syn: 0.93402 + oe_syn_lower: 0.874 + oe_syn_upper: 0.997 + pli: 0.00000000000000000000000000000000000000015734 + syn_z: 0.93881 +- ensembl_gene_id: ENSG00000184389 + entrez_id: "127550" + gene_symbol: A3GALT2 + exp_lof: 26.534 + exp_mis: 381.4 + exp_syn: 160.06 + mis_z: -4.0864 + obs_lof: 41 + obs_mis: 600 + obs_syn: 253 + oe_lof: 1.0228 + oe_lof_lower: 0.699 + oe_lof_upper: 1.53 + oe_mis: 1.5732 + oe_mis_lower: 1.471 + oe_mis_upper: 1.683 + oe_syn: 1.5807 + oe_syn_lower: 1.426 + oe_syn_upper: 1.754 + pli: 0.0000010075 + syn_z: -4.0061 +- ensembl_gene_id: ENSG00000128274 + entrez_id: "53947" + gene_symbol: A4GALT + exp_lof: 21.691 + exp_mis: 494.59 + exp_syn: 225.34 + mis_z: -0.28586 + obs_lof: 22 + obs_mis: 512 + obs_syn: 257 + oe_lof: 0.61691 + oe_lof_lower: 0.303 + oe_lof_upper: 1.394 + oe_mis: 1.0352 + oe_mis_lower: 0.962 + oe_mis_upper: 1.114 + oe_syn: 1.1405 + oe_syn_lower: 1.029 + oe_syn_upper: 1.265 + pli: 0.075456 + syn_z: -1.1499 +- ensembl_gene_id: ENSG00000118017 + entrez_id: "51146" + gene_symbol: A4GNT + exp_lof: 27.359 + exp_mis: 436.48 + exp_syn: 167.83 + mis_z: 1.0569 + obs_lof: 14 + obs_mis: 376 + obs_syn: 156 + oe_lof: 0.70139 + oe_lof_lower: 0.383 + oe_lof_upper: 1.377 + oe_mis: 0.86143 + oe_mis_lower: 0.791 + oe_mis_upper: 0.938 + oe_syn: 0.92954 + oe_syn_lower: 0.815 + oe_syn_upper: 1.062 + pli: 0.019099 + syn_z: 0.49778 +- ensembl_gene_id: ENSG00000094914 + entrez_id: "8086" + gene_symbol: AAAS + exp_lof: 81.872 + exp_mis: 722.62 + exp_syn: 280.11 + mis_z: 0.87764 + obs_lof: 61 + obs_mis: 658 + obs_syn: 271 + oe_lof: 0.74507 + oe_lof_lower: 0.605 + oe_lof_upper: 0.922 + oe_mis: 0.91057 + oe_mis_lower: 0.853 + oe_mis_upper: 0.971 + oe_syn: 0.96747 + oe_syn_lower: 0.875 + oe_syn_upper: 1.07 + pli: 0.0000000000000008615 + syn_z: 0.29692 +- ensembl_gene_id: ENSG00000081760 + entrez_id: "65985" + gene_symbol: AACS + exp_lof: 82.529 + exp_mis: 896.85 + exp_syn: 349.3 + mis_z: 0.4736 + obs_lof: 65 + obs_mis: 858 + obs_syn: 333 + oe_lof: 0.7876 + oe_lof_lower: 0.644 + oe_lof_upper: 0.968 + oe_mis: 0.95668 + oe_mis_lower: 0.904 + oe_mis_upper: 1.012 + oe_syn: 0.95333 + oe_syn_lower: 0.871 + oe_syn_upper: 1.044 + pli: 0.0000000000000000085337 + syn_z: 0.4756 + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap new file mode 100644 index 00000000..fb367faf --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_gtex_record.snap @@ -0,0 +1,27909 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- hgnc_id: "HGNC:37102" + ensembl_gene_id: ENSG00000223972 + ensembl_gene_version: "5" + records: + - tissue: Adipose Tissue + tissue_detailed: Adipose - Subcutaneous + tpms: + - 0 + - 0 + - 0 + - 0 + - 6 + - tissue: Adipose Tissue + tissue_detailed: Adipose - Visceral (Omentum) + tpms: + - 0 + - 0 + - 0 + - 0 + - 11 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tissue: Brain + tissue_detailed: Brain - Cerebellar Hemisphere + tpms: + - 0 + - 0 + - 0 + - 1 + - 8 + - tissue: Brain + tissue_detailed: Brain - Cerebellum + tpms: + - 0 + - 0 + - 0 + - 1 + - 8 + - tissue: Brain + tissue_detailed: Brain - Cortex + tpms: + - 0 + - 0 + - 0 + - 1 + - 8 + - tissue: Brain + tissue_detailed: Brain - Frontal Cortex (BA9) + tpms: + - 0 + - 0 + - 0 + - 1 + - 5 + - tissue: Brain + tissue_detailed: Brain - Hippocampus + tpms: + - 0 + - 0 + - 0 + - 1 + - 10 + - tissue: Brain + tissue_detailed: Brain - Hypothalamus + tpms: + - 0 + - 0 + - 0 + - 1 + - 10 + - tissue: Brain + tissue_detailed: Brain - Nucleus accumbens (basal ganglia) + tpms: + - 0 + - 0 + - 0 + - 1 + - 6 + - tissue: Brain + tissue_detailed: Brain - Putamen (basal ganglia) + tpms: + - 0 + - 0 + - 0 + - 1 + - 6 + - tissue: Brain + tissue_detailed: Brain - Spinal cord (cervical c-1) + tpms: + - 0 + - 0 + - 0 + - 1 + - 6 + - tissue: Brain + tissue_detailed: Brain - Substantia nigra + tpms: + - 0 + - 0 + 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tissue: Salivary Gland + tissue_detailed: Minor Salivary Gland + tpms: + - 0 + - 0 + - 0 + - 0 + - 3 + - tissue: Skin + tissue_detailed: Cells - Cultured fibroblasts + tpms: + - 0 + - 0 + - 0 + - 0 + - 3 + - tissue: Skin + tissue_detailed: Skin - Not Sun Exposed (Suprapubic) + tpms: + - 0 + - 0 + - 0 + - 0 + - 6 + - tissue: Skin + tissue_detailed: Skin - Sun Exposed (Lower leg) + tpms: + - 0 + - 0 + - 0 + - 0 + - 6 + - tissue: Small Intestine + tissue_detailed: Small Intestine - Terminal Ileum + tpms: + - 0 + - 0 + - 0 + - 1 + - 4 + - tissue: Spleen + tissue_detailed: Spleen + tpms: + - 0 + - 0 + - 0 + - 1 + - 7 + - tissue: Stomach + tissue_detailed: Stomach + tpms: + - 0 + - 0 + - 0 + - 1 + - 4 + - tissue: Testis + tissue_detailed: Testis + tpms: + - 0 + - 4 + - 7 + - 13 + - 68 + - tissue: Thyroid + tissue_detailed: Thyroid + tpms: + - 0 + - 0 + - 0 + - 1 + - 6 + - tissue: Uterus + tissue_detailed: Uterus + tpms: + - 0 + - 0 + - 0 + - 1 + - 5 + - tissue: Vagina + tissue_detailed: 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tissue_detailed: Liver + tpms: + - 17 + - 54.25 + - 76.5 + - 108.25 + - 336 + - tissue: Lung + tissue_detailed: Lung + tpms: + - 12 + - 91.25 + - 130 + - 185 + - 495 + - tissue: Muscle + tissue_detailed: Muscle - Skeletal + tpms: + - 7 + - 42 + - 61 + - 86 + - 312 + - tissue: Nerve + tissue_detailed: Nerve - Tibial + tpms: + - 16 + - 132 + - 172 + - 236.5 + - 825 + - tissue: Ovary + tissue_detailed: Ovary + tpms: + - 43 + - 128 + - 175 + - 245 + - 955 + - tissue: Pancreas + tissue_detailed: Pancreas + tpms: + - 15 + - 58 + - 81 + - 114.25 + - 865 + - tissue: Pituitary + tissue_detailed: Pituitary + tpms: + - 41 + - 120 + - 176 + - 238 + - 1288 + - tissue: Prostate + tissue_detailed: Prostate + tpms: + - 44 + - 151 + - 211 + - 303 + - 1210 + - tissue: Salivary Gland + tissue_detailed: Minor Salivary Gland + tpms: + - 33 + - 95.5 + - 124.5 + - 172.75 + - 439 + - tissue: Skin + tissue_detailed: Cells - Cultured fibroblasts + tpms: + - 12 + - 38 + - 54 + - 72 + - 217 + - tissue: Skin + 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Kidney + tissue_detailed: Kidney - Cortex + tpms: + - 858 + - 1751 + - 2140 + - 2651 + - 6937 + - tissue: Kidney + tissue_detailed: Kidney - Medulla + tpms: + - 1695 + - 2017.5 + - 2686.5 + - 3960.5 + - 6098 + - tissue: Liver + tissue_detailed: Liver + tpms: + - 1292 + - 2697.25 + - 3326.5 + - 4109 + - 12816 + - tissue: Lung + tissue_detailed: Lung + tpms: + - 166 + - 867.25 + - 1308.5 + - 1774.75 + - 6134 + - tissue: Muscle + tissue_detailed: Muscle - Skeletal + tpms: + - 122 + - 1125.5 + - 1819 + - 2824 + - 16280 + - tissue: Nerve + tissue_detailed: Nerve - Tibial + tpms: + - 244 + - 1027 + - 1299 + - 1578 + - 4494 + - tissue: Ovary + tissue_detailed: Ovary + tpms: + - 239 + - 755 + - 981 + - 1356.25 + - 2540 + - tissue: Pancreas + tissue_detailed: Pancreas + tpms: + - 367 + - 757.25 + - 964.5 + - 1238.5 + - 3821 + - tissue: Pituitary + tissue_detailed: Pituitary + tpms: + - 314 + - 685 + - 850 + - 1039 + - 2849 + - tissue: Prostate + tissue_detailed: Prostate + tpms: + - 552 + - 1528 + - 1968 + - 2359 + - 5058 + - tissue: Salivary Gland + tissue_detailed: Minor Salivary Gland + tpms: + - 992 + - 2117.5 + - 2715.5 + - 3355.75 + - 8702 + - tissue: Skin + tissue_detailed: Cells - Cultured fibroblasts + tpms: + - 555 + - 1093.75 + - 1367.5 + - 1675.25 + - 3554 + - tissue: Skin + tissue_detailed: Skin - Not Sun Exposed (Suprapubic) + tpms: + - 516 + - 2173.75 + - 2630 + - 3282.5 + - 8163 + - tissue: Skin + tissue_detailed: Skin - Sun Exposed (Lower leg) + tpms: + - 683 + - 2345 + - 2927 + - 3774 + - 9730 + - tissue: Small Intestine + tissue_detailed: Small Intestine - Terminal Ileum + tpms: + - 780 + - 1477 + - 2056 + - 2826.5 + - 6550 + - tissue: Spleen + tissue_detailed: Spleen + tpms: + - 934 + - 1737 + - 2021 + - 2500 + - 6291 + - tissue: Stomach + tissue_detailed: Stomach + tpms: + - 249 + - 1477.5 + - 2157 + - 2879.5 + - 8572 + - tissue: Testis + tissue_detailed: Testis + tpms: + - 324 + - 5616 + - 7790 + - 9952 + - 23134 + - tissue: Thyroid + tissue_detailed: Thyroid + tpms: + - 337 + - 1180 + - 1511 + - 1879 + - 5117 + - tissue: Uterus + tissue_detailed: Uterus + tpms: + - 603 + - 1243.75 + - 1549 + - 1854.25 + - 4907 + - tissue: Vagina + tissue_detailed: Vagina + tpms: + - 664 + - 1498.5 + - 2088.5 + - 2892.25 + - 8444 +- hgnc_id: "HGNC:15661" + ensembl_gene_id: ENSG00000169962 + ensembl_gene_version: "4" + records: + - tissue: Adipose Tissue + tissue_detailed: Adipose - Subcutaneous + tpms: + - 4 + - 30 + - 43 + - 56 + - 183 + - tissue: Adipose Tissue + tissue_detailed: Adipose - Visceral (Omentum) + tpms: + - 4 + - 33 + - 46 + - 65 + - 1064 + - tissue: Adrenal Gland + tissue_detailed: Adrenal Gland + tpms: + - 5 + - 37.25 + - 55 + - 83 + - 290 + - tissue: Bladder + tissue_detailed: Bladder + tpms: + - 14 + - 29 + - 42 + - 71 + - 96 + - tissue: Blood + tissue_detailed: Cells - EBV-transformed lymphocytes + tpms: + - 29 + - 76.25 + - 107 + - 143 + - 367 + - tissue: Blood + tissue_detailed: Whole Blood + tpms: + - 1 + - 53 + - 84 + - 137 + - 451 + - tissue: Blood Vessel + tissue_detailed: Artery - Aorta + tpms: + - 4 + - 24 + - 33 + - 47 + - 259 + - tissue: Blood Vessel + tissue_detailed: Artery - Coronary + tpms: + - 3 + - 29 + - 43 + - 62 + - 1213 + - tissue: Blood Vessel + tissue_detailed: Artery - Tibial + tpms: + - 0 + - 17 + - 24 + - 34 + - 365 + - tissue: Brain + tissue_detailed: Brain - Amygdala + tpms: + - 10 + - 29.75 + - 42.5 + - 56.25 + - 146 + - tissue: Brain + tissue_detailed: Brain - Anterior cingulate cortex (BA24) + tpms: + - 11 + - 39 + - 51 + - 66.25 + - 157 + - tissue: Brain + tissue_detailed: Brain - Caudate (basal ganglia) + tpms: + - 7 + - 36.25 + - 49 + - 67 + - 266 + - tissue: Brain + tissue_detailed: Brain - Cerebellar Hemisphere + tpms: + - 40 + - 121.5 + - 170 + - 216 + - 655 + - tissue: Brain + tissue_detailed: Brain - Cerebellum + tpms: + - 48 + - 127 + - 162 + - 206 + - 732 + - tissue: Brain + tissue_detailed: Brain - Cortex + tpms: + - 17 + - 51 + - 67 + - 84.5 + - 251 + - tissue: Brain + tissue_detailed: Brain - Frontal Cortex (BA9) + tpms: + - 19 + - 43 + - 55 + - 72 + - 144 + - tissue: Brain + tissue_detailed: Brain - Hippocampus + tpms: + - 6 + - 35 + - 46 + - 61 + - 205 + - tissue: Brain + tissue_detailed: Brain - Hypothalamus + tpms: + - 8 + - 34.25 + - 47.5 + - 63.75 + - 280 + - tissue: Brain + tissue_detailed: Brain - Nucleus accumbens (basal ganglia) + tpms: + - 8 + - 44.25 + - 58 + - 75 + - 158 + - tissue: Brain + tissue_detailed: Brain - Putamen (basal ganglia) + tpms: + - 7 + - 36 + - 48 + - 61 + - 202 + - tissue: Brain + tissue_detailed: Brain - Spinal cord (cervical c-1) + tpms: + - 10 + - 26 + - 38 + - 50 + - 287 + - tissue: Brain + tissue_detailed: Brain - Substantia nigra + tpms: + - 8 + - 25 + - 35 + - 47.5 + - 146 + - tissue: Breast + tissue_detailed: Breast - Mammary Tissue + tpms: + - 4 + - 41 + - 61 + - 85.5 + - 562 + - tissue: Cervix Uteri + tissue_detailed: Cervix - Ectocervix + tpms: + - 33 + - 59 + - 92 + - 101 + - 115 + - tissue: Cervix Uteri + tissue_detailed: Cervix - Endocervix + tpms: + - 34 + - 57 + - 73 + - 103.25 + - 169 + - tissue: Colon + tissue_detailed: Colon - Sigmoid + tpms: + - 7 + - 33 + - 45 + - 62 + - 551 + - tissue: Colon + tissue_detailed: Colon - Transverse + tpms: + - 7 + - 71.25 + - 152.5 + - 263.5 + - 2192 + - tissue: Esophagus + tissue_detailed: Esophagus - Gastroesophageal Junction + tpms: + - 6 + - 30 + - 40 + - 54 + - 316 + - tissue: Esophagus + tissue_detailed: Esophagus - Mucosa + tpms: + - 23 + - 87 + - 143 + - 232.5 + - 1216 + - tissue: Esophagus + tissue_detailed: Esophagus - Muscularis + tpms: + - 6 + - 31 + - 42 + - 55 + - 293 + - tissue: Fallopian Tube + tissue_detailed: Fallopian Tube + tpms: + - 44 + - 72 + - 83 + - 111 + - 146 + - tissue: Heart + tissue_detailed: Heart - Atrial Appendage + tpms: + - 9 + - 53 + - 72 + - 101 + - 466 + - tissue: Heart + tissue_detailed: Heart - Left Ventricle + tpms: + - 9 + - 68 + - 111.5 + - 176 + - 1006 + - tissue: Kidney + tissue_detailed: Kidney - Cortex + tpms: + - 11 + - 41 + - 63 + - 97 + - 478 + - tissue: Kidney + tissue_detailed: Kidney - Medulla + tpms: + - 59 + - 79.25 + - 91.5 + - 123.75 + - 204 + - tissue: Liver + tissue_detailed: Liver + tpms: + - 4 + - 39 + - 65.5 + - 97 + - 2302 + - tissue: Lung + tissue_detailed: Lung + tpms: + - 7 + - 48 + - 70 + - 107 + - 436 + - tissue: Muscle + tissue_detailed: Muscle - Skeletal + tpms: + - 24 + - 69 + - 94 + - 132 + - 403 + - tissue: Nerve + tissue_detailed: Nerve - Tibial + tpms: + - 8 + - 57 + - 75 + - 103 + - 319 + - tissue: Ovary + tissue_detailed: Ovary + tpms: + - 10 + - 43.75 + - 64 + - 88.25 + - 195 + - tissue: Pancreas + tissue_detailed: Pancreas + tpms: + - 1 + - 15 + - 22 + - 31 + - 174 + - tissue: Pituitary + tissue_detailed: Pituitary + tpms: + - 51 + - 174.5 + - 260 + - 372 + - 1284 + - tissue: Prostate + tissue_detailed: Prostate + tpms: + - 15 + - 44 + - 59 + - 82 + - 456 + - tissue: Salivary Gland + tissue_detailed: Minor Salivary Gland + tpms: + - 38 + - 148.5 + - 203.5 + - 299.5 + - 963 + - tissue: Skin + tissue_detailed: Cells - Cultured fibroblasts + tpms: + - 0 + - 11 + - 17 + - 24 + - 133 + - tissue: Skin + tissue_detailed: Skin - Not Sun Exposed (Suprapubic) + tpms: + - 4 + - 36 + - 52 + - 79 + - 474 + - tissue: Skin + tissue_detailed: Skin - Sun Exposed (Lower leg) + tpms: + - 7 + - 42 + - 57 + - 80 + - 332 + - tissue: Small Intestine + tissue_detailed: Small Intestine - Terminal Ileum + tpms: + - 34 + - 147.5 + - 270 + - 471.5 + - 1386 + - tissue: Spleen + tissue_detailed: Spleen + tpms: + - 171 + - 343 + - 490 + - 688 + - 5566 + - tissue: Stomach + tissue_detailed: Stomach + tpms: + - 9 + - 38 + - 61 + - 90 + - 310 + - tissue: Testis + tissue_detailed: Testis + tpms: + - 7 + - 139 + - 176 + - 219 + - 474 + - tissue: Thyroid + tissue_detailed: Thyroid + tpms: + - 18 + - 69 + - 96 + - 131 + - 1481 + - tissue: Uterus + tissue_detailed: Uterus + tpms: + - 8 + - 44 + - 57 + - 80.75 + - 179 + - tissue: Vagina + tissue_detailed: Vagina + tpms: + - 23 + - 58 + - 90 + - 147.5 + - 552 +- hgnc_id: "HGNC:3084" + ensembl_gene_id: ENSG00000107404 + ensembl_gene_version: "19" + records: + - tissue: Adipose Tissue + tissue_detailed: Adipose - Subcutaneous + tpms: + - 1236 + - 3720 + - 4597 + - 5622.5 + - 23803 + - tissue: Adipose Tissue + tissue_detailed: Adipose - Visceral (Omentum) + tpms: + - 1464 + - 3463 + - 4352 + - 5328 + - 14349 + - tissue: Adrenal Gland + tissue_detailed: Adrenal Gland + tpms: + - 3013 + - 5003.75 + - 6208.5 + - 7596.25 + - 20174 + - tissue: Bladder + tissue_detailed: Bladder + tpms: + - 2461 + - 4732 + - 5993 + - 7176 + - 13147 + - tissue: Blood + tissue_detailed: Cells - EBV-transformed lymphocytes + tpms: + - 746 + - 1818.75 + - 2341 + - 2688.5 + - 4846 + - tissue: Blood + tissue_detailed: Whole Blood + tpms: + - 59 + - 622 + - 937 + - 1420 + - 5692 + - tissue: Blood Vessel + tissue_detailed: Artery - Aorta + tpms: + - 2355 + - 3738.25 + - 4470 + - 5401 + - 11533 + - tissue: Blood Vessel + tissue_detailed: Artery - Coronary + tpms: + - 2274 + - 3703.25 + - 4540 + - 5661.25 + - 30924 + - tissue: Blood Vessel + tissue_detailed: Artery - Tibial + tpms: + - 656 + - 3770.5 + - 4636 + - 5821.5 + - 31043 + - tissue: Brain + tissue_detailed: Brain - Amygdala + tpms: + - 1915 + - 5431.25 + - 7454.5 + - 9486.25 + - 19799 + - tissue: Brain + tissue_detailed: Brain - Anterior cingulate cortex (BA24) + tpms: + - 2879 + - 7324.75 + - 9161 + - 11413.25 + - 32609 + - tissue: Brain + tissue_detailed: Brain - Caudate (basal ganglia) + tpms: + - 1260 + - 4951 + - 6482.5 + - 8025.25 + - 14614 + - tissue: Brain + tissue_detailed: Brain - Cerebellar Hemisphere + tpms: + - 2580 + - 6267 + - 7507 + - 9030.5 + - 18530 + - tissue: Brain + tissue_detailed: Brain - Cerebellum + tpms: + - 2880 + - 5923 + - 7252 + - 8975 + - 15759 + - tissue: Brain + tissue_detailed: Brain - Cortex + tpms: + - 3187 + - 8184.5 + - 9982 + - 11644 + - 33751 + - tissue: Brain + tissue_detailed: Brain - Frontal Cortex (BA9) + tpms: + - 2799 + - 7182 + - 8939 + - 10837 + - 28324 + - tissue: Brain + tissue_detailed: Brain - Hippocampus + tpms: + - 2016 + - 5209 + - 7236 + - 9839 + - 25603 + - tissue: Brain + tissue_detailed: Brain - Hypothalamus + tpms: + - 850 + - 4372.25 + - 5675.5 + - 7327.75 + - 34771 + - tissue: Brain + tissue_detailed: Brain - Nucleus accumbens (basal ganglia) + tpms: + - 1460 + - 5634.25 + - 7396 + - 9199 + - 21480 + - tissue: Brain + tissue_detailed: Brain - Putamen (basal ganglia) + tpms: + - 1080 + - 4395 + - 6199 + - 7608 + - 22642 + - tissue: Brain + tissue_detailed: Brain - Spinal cord (cervical c-1) + tpms: + - 970 + - 3641.5 + - 4460 + - 5693 + - 9076 + - tissue: Brain + tissue_detailed: Brain - Substantia nigra + tpms: + - 2083 + - 3494.5 + - 5088 + - 6352 + - 10237 + - tissue: Breast + tissue_detailed: Breast - Mammary Tissue + tpms: + - 1786 + - 3982 + - 4883 + - 5964.5 + - 13338 + - tissue: Cervix Uteri + tissue_detailed: Cervix - Ectocervix + tpms: + - 4392 + - 5074 + - 5429 + - 6108 + - 8599 + - tissue: Cervix Uteri + tissue_detailed: Cervix - Endocervix + tpms: + - 4145 + - 5380 + - 5772.5 + - 6204.75 + - 10773 + - tissue: Colon + tissue_detailed: Colon - Sigmoid + tpms: + - 2756 + - 5399 + - 6585 + - 8347 + - 19495 + - tissue: Colon + tissue_detailed: Colon - Transverse + tpms: + - 2254 + - 4460.75 + - 5395 + - 6689.5 + - 36528 + - tissue: Esophagus + tissue_detailed: Esophagus - Gastroesophageal Junction + tpms: + - 2774 + - 4928 + - 5854 + - 7101.5 + - 31928 + - tissue: Esophagus + tissue_detailed: Esophagus - Mucosa + tpms: + - 2829 + - 6022 + - 7465 + - 9331.5 + - 23928 + - tissue: Esophagus + tissue_detailed: Esophagus - Muscularis + tpms: + - 1646 + - 4928 + - 5963 + - 7337 + - 25214 + - tissue: Fallopian Tube + tissue_detailed: Fallopian Tube + tpms: + - 3472 + - 5220 + - 6141 + - 7098 + - 10207 + - tissue: Heart + tissue_detailed: Heart - Atrial Appendage + tpms: + - 870 + - 3585 + - 4235 + - 5361 + - 13017 + - tissue: Heart + tissue_detailed: Heart - Left Ventricle + tpms: + - 631 + - 3943.5 + - 5642 + - 7524 + - 16560 + - tissue: Kidney + tissue_detailed: Kidney - Cortex + tpms: + - 1771 + - 3324 + - 4209 + - 5246 + - 10515 + - tissue: Kidney + tissue_detailed: Kidney - Medulla + tpms: + - 3178 + - 4360 + - 5823.5 + - 7510.75 + - 9364 + - tissue: Liver + tissue_detailed: Liver + tpms: + - 1608 + - 3023.25 + - 3805.5 + - 4704 + - 16225 + - tissue: Lung + tissue_detailed: Lung + tpms: + - 675 + - 4072.25 + - 4946.5 + - 6283.25 + - 12401 + - tissue: Muscle + tissue_detailed: Muscle - Skeletal + tpms: + - 3523 + - 12608.5 + - 15476 + - 19363.5 + - 42405 + - tissue: Nerve + tissue_detailed: Nerve - Tibial + tpms: + - 1727 + - 6958 + - 8380 + - 10046 + - 26457 + - tissue: Ovary + tissue_detailed: Ovary + tpms: + - 2567 + - 4659.5 + - 5673 + - 6702 + - 12687 + - tissue: Pancreas + tissue_detailed: Pancreas + tpms: + - 1812 + - 3546.75 + - 4571.5 + - 5919 + - 13687 + - tissue: Pituitary + tissue_detailed: Pituitary + tpms: + - 3443 + - 5411 + - 6584 + - 7991 + - 27727 + - tissue: Prostate + tissue_detailed: Prostate + tpms: + - 1723 + - 4607 + - 5785 + - 6971 + - 15610 + - tissue: Salivary Gland + tissue_detailed: Minor Salivary Gland + tpms: + - 2634 + - 4774.75 + - 5818 + - 7186.75 + - 24324 + - tissue: Skin + tissue_detailed: Cells - Cultured fibroblasts + tpms: + - 1702 + - 3627.5 + - 4696.5 + - 6242.75 + - 14674 + - tissue: Skin + tissue_detailed: Skin - Not Sun Exposed (Suprapubic) + tpms: + - 1019 + - 5437.25 + - 6473 + - 7777.5 + - 15324 + - tissue: Skin + tissue_detailed: Skin - Sun Exposed (Lower leg) + tpms: + - 1933 + - 5415 + - 6458 + - 7756 + - 23201 + - tissue: Small Intestine + tissue_detailed: Small Intestine - Terminal Ileum + tpms: + - 2233 + - 3802.5 + - 4344 + - 5277.5 + - 13602 + - tissue: Spleen + tissue_detailed: Spleen + tpms: + - 1528 + - 3196 + - 3949 + - 4734 + - 10148 + - tissue: Stomach + tissue_detailed: Stomach + tpms: + - 2356 + - 4552 + - 5441 + - 6670.5 + - 15487 + - tissue: Testis + tissue_detailed: Testis + tpms: + - 752 + - 8946 + - 10639 + - 13149 + - 38746 + - tissue: Thyroid + tissue_detailed: Thyroid + tpms: + - 1227 + - 4761 + - 5796 + - 6905 + - 17139 + - tissue: Uterus + tissue_detailed: Uterus + tpms: + - 3159 + - 4904.75 + - 6003 + - 7635 + - 19127 + - tissue: Vagina + tissue_detailed: Vagina + tpms: + - 3546 + - 4933 + - 5843 + - 7539 + - 16450 + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap new file mode 100644 index 00000000..7165778c --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_hgnc_record.snap @@ -0,0 +1,154 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- hgnc_id: "HGNC:12403" + symbol: TTN + name: titin + locus_group: protein-coding gene + locus_type: gene with protein product + status: Approved + location: 2q31.2 + location_sortable: 02q31.2 + alias_symbol: + - CMPD4 + - FLJ32040 + - TMD + - CMH9 + - LGMD2J + - MYLK5 + prev_symbol: + - CMD1G + prev_name: + - "cardiomyopathy, dilated 1G (autosomal dominant)" + gene_group: + - Fibronectin type III domain containing + - I-set domain containing + - Myosin light chain kinase family + gene_group_id: + - 555 + - 593 + - 1668 + date_approved_reserved: 1991-06-07 + date_name_changed: 2004-02-13 + date_modified: 2023-03-15 + entrez_id: "7273" + ensembl_gene_id: ENSG00000155657 + vega_id: OTTHUMG00000154448 + ucsc_id: uc031rqc.3 + ena: + - X90568 + refseq_accession: + - NM_133378 + ccds_id: + - CCDS54423 + - CCDS54424 + - CCDS33337 + - CCDS54421 + - CCDS54422 + - CCDS59435 + uniprot_ids: + - Q8WZ42 + pubmed_id: + - 2129545 + - 10051295 + mgd_id: + - "MGI:98864" + rgd_id: + - "RGD:621114" + lsdb: + - "http://www.angis.org.au/Databases/Heart/heartbreak.html|FHC Mutation Database" + - "http://www.LOVD.nl/TTN|TTN @ LOVD" + - "http://www.dmd.nl/nmdb2/home.php?select_db=TTN|Leiden Muscular Dystrophy pages" + - "http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_391.xml|LRG_391" + omim_id: + - "188840" + orphanet: 120326 + iuphar: "objectId:2265" + agr: "HGNC:12403" + mane_select: + - ENST00000589042.5 + - NM_001267550.2 +- hgnc_id: "HGNC:1097" + symbol: BRAF + name: "B-Raf proto-oncogene, serine/threonine kinase" + locus_group: protein-coding gene + locus_type: gene with protein product + status: Approved + location: 7q34 + location_sortable: 07q34 + alias_symbol: + - BRAF1 + - BRAF-1 + prev_name: + - v-raf murine sarcoma viral oncogene homolog B + gene_group: + - Mitogen-activated protein kinase kinase kinases + - RAF family + gene_group_id: + - 654 + - 1157 + date_approved_reserved: 1991-07-16 + date_name_changed: 2014-06-26 + date_modified: 2023-01-20 + entrez_id: "673" + ensembl_gene_id: ENSG00000157764 + vega_id: OTTHUMG00000157457 + ucsc_id: uc003vwc.5 + ena: + - M95712 + refseq_accession: + - NM_004333 + ccds_id: + - CCDS94219 + - CCDS87555 + - CCDS94218 + - CCDS5863 + uniprot_ids: + - P15056 + pubmed_id: + - 2284096 + - 1565476 + mgd_id: + - "MGI:88190" + rgd_id: + - "RGD:619908" + lsdb: + - "http://ftp.ebi.ac.uk/pub/databases/lrgex/LRG_299.xml|LRG_299" + cosmic: BRAF + omim_id: + - "164757" + orphanet: 119066 + iuphar: "objectId:1943" + agr: "HGNC:1097" + mane_select: + - ENST00000646891.2 + - NM_004333.6 +- hgnc_id: "HGNC:8" + symbol: A2MP1 + name: alpha-2-macroglobulin pseudogene 1 + locus_group: pseudogene + locus_type: pseudogene + status: Approved + location: 12p13.31 + location_sortable: 12p13.31 + prev_symbol: + - A2MP + prev_name: + - alpha-2-macroglobulin pseudogene + date_approved_reserved: 1991-09-12 + date_symbol_changed: 2010-02-24 + date_name_changed: 2010-02-24 + date_modified: 2016-08-22 + entrez_id: "3" + ensembl_gene_id: ENSG00000256069 + vega_id: OTTHUMG00000168334 + ena: + - M24415 + refseq_accession: + - NG_001067 + pubmed_id: + - 2478422 + pseudogene.org: PGOHUM00000291221 + agr: "HGNC:8" + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap new file mode 100644 index 00000000..1e5569d8 --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_ncbi_record.snap @@ -0,0 +1,38 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- hgnc_id: "HGNC:130" + ensembl_gene_id: ENSG00000107796 + ncbi_gene_id: "59" + gene_symbol: ACTA2 + mim_gene_id: "102620" + disease_phenotype: Familial thoracic aortic aneurysm + disorder_mim: "611788" + phenotype_category: Cardiovascular + inheritance: AD + sf_list_version: "1.0" + variants_to_report: All P and LP +- hgnc_id: "HGNC:143" + ensembl_gene_id: ENSG00000159251 + ncbi_gene_id: "70" + gene_symbol: ACTC1 + mim_gene_id: "102540" + disease_phenotype: Hypertrophic cardiomyopathy + disorder_mim: "612098" + phenotype_category: Cardiovascular + inheritance: AD + sf_list_version: "1.0" + variants_to_report: All P and LP +- hgnc_id: "HGNC:175" + ensembl_gene_id: ENSG00000139567 + ncbi_gene_id: "94" + gene_symbol: ACVRL1 + mim_gene_id: "601284" + disease_phenotype: Hereditary hemorrhagic telangiectasia + disorder_mim: "600376" + phenotype_category: Miscellaneous + inheritance: AD + sf_list_version: "3.0" + variants_to_report: All P and LP + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap new file mode 100644 index 00000000..a86c701b --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_omim_record.snap @@ -0,0 +1,32 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- hgnc_id: "HGNC:20" + omim_id: "OMIM:613287" + disease_name: "Charcot-Marie-Tooth disease, axonal, type 2N" +- hgnc_id: "HGNC:20" + omim_id: "OMIM:616339" + disease_name: "Epileptic encephalopathy, early infantile, 29" +- hgnc_id: "HGNC:20" + omim_id: "OMIM:619661" + disease_name: "Leukoencephalopathy, hereditary diffuse, with spheroids 2" +- hgnc_id: "HGNC:20" + omim_id: "OMIM:619691" + disease_name: "Trichothiodystrophy 8, nonphotosensitive" +- hgnc_id: "HGNC:23" + omim_id: "OMIM:613163" + disease_name: GABA-transaminase deficiency +- hgnc_id: "HGNC:29" + omim_id: "OMIM:205400" + disease_name: Tangier disease +- hgnc_id: "HGNC:29" + omim_id: "OMIM:604091" + disease_name: "HDL deficiency, familial, 1" +- hgnc_id: "HGNC:32" + omim_id: "OMIM:618808" + disease_name: Intellectual developmental disorder with poor growth and with or without seizures or ataxia +- hgnc_id: "HGNC:33" + omim_id: "OMIM:610921" + disease_name: "Surfactant metabolism dysfunction, pulmonary, 3" + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap index 83f2e0c2..eed78841 100644 --- a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_panelapp_record.snap @@ -5,6 +5,7 @@ expression: records - gene_data: hgnc_id: "HGNC:13164" hgnc_symbol: CNBP + gene_symbol: CNBP entity_type: str entity_name: CNBP_CCTG confidence_level: "1" @@ -38,6 +39,7 @@ expression: records - gene_data: hgnc_id: "HGNC:2933" hgnc_symbol: DMPK + gene_symbol: DMPK entity_type: str entity_name: DMPK_CTG confidence_level: "3" @@ -70,6 +72,7 @@ expression: records - gene_data: hgnc_id: "HGNC:2933" hgnc_symbol: DMPK + gene_symbol: DMPK entity_type: str entity_name: DMPK_CTG confidence_level: "1" @@ -102,6 +105,7 @@ expression: records - gene_data: hgnc_id: "HGNC:644" hgnc_symbol: AR + gene_symbol: AR entity_type: str entity_name: AR_CAG confidence_level: "3" @@ -140,6 +144,7 @@ expression: records - gene_data: hgnc_id: "HGNC:13164" hgnc_symbol: CNBP + gene_symbol: CNBP entity_type: str entity_name: CNBP_CCTG confidence_level: "1" diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap new file mode 100644 index 00000000..7875e2ca --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_rcnv_record.snap @@ -0,0 +1,302 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- hgnc_id: "HGNC:100" + p_haplo: 0.847725142832013 + p_triplo: 0.922859618105275 +- hgnc_id: "HGNC:10000" + p_haplo: 0.109117054117665 + p_triplo: 0.198800271208977 +- hgnc_id: "HGNC:10001" + p_haplo: 0.204562266176714 + p_triplo: 0.162285057802179 +- hgnc_id: "HGNC:10002" + p_haplo: 0.936350369744503 + p_triplo: 0.805643184079852 +- hgnc_id: "HGNC:10003" + p_haplo: 0.769818939204354 + p_triplo: 0.75197161314637 +- hgnc_id: "HGNC:10004" + p_haplo: 0.603943883006572 + p_triplo: 0.248171665304568 +- hgnc_id: "HGNC:10006" + p_haplo: 0.0993357375182574 + p_triplo: 0.195904231949219 +- hgnc_id: "HGNC:10007" + p_haplo: 0.192942277983282 + p_triplo: 0.266136321195021 +- hgnc_id: "HGNC:10008" + p_haplo: 0.343749376526259 + p_triplo: 0.263185465210448 +- hgnc_id: "HGNC:10009" + p_haplo: 0.160616590539096 + p_triplo: 0.392420038388129 +- hgnc_id: "HGNC:1001" + p_haplo: 0.986859084770977 + p_triplo: 0.66980122387033 +- hgnc_id: "HGNC:10011" + p_haplo: 0.934707913361006 + p_triplo: 0.971839427655645 +- hgnc_id: "HGNC:10012" + p_haplo: 0.136476364042971 + p_triplo: 0.21646717578546 +- hgnc_id: "HGNC:10013" + p_haplo: 0.237069878225192 + p_triplo: 0.354185782840739 +- hgnc_id: "HGNC:10017" + p_haplo: 0.159555407130066 + p_triplo: 0.20570186562073 +- hgnc_id: "HGNC:10018" + p_haplo: 0.670581614496138 + p_triplo: 0.95523786414312 +- hgnc_id: "HGNC:10019" + p_haplo: 0.818340832230546 + p_triplo: 0.926492401158832 +- hgnc_id: "HGNC:1002" + p_haplo: 0.732886682022641 + p_triplo: 0.521623366521422 +- hgnc_id: "HGNC:10020" + p_haplo: 0.812475515242985 + p_triplo: 0.605402959732318 +- hgnc_id: "HGNC:10021" + p_haplo: 0.333723746201624 + p_triplo: 0.36082044031516 +- hgnc_id: "HGNC:10023" + p_haplo: 0.0915388985394556 + p_triplo: 0.994992510054623 +- hgnc_id: "HGNC:10024" + p_haplo: 0.254430435786958 + p_triplo: 0.16853227857456 +- hgnc_id: "HGNC:10025" + p_haplo: 0.988119537929302 + p_triplo: 0.948823000020974 +- hgnc_id: "HGNC:10026" + p_haplo: 0.230414516747956 + p_triplo: 0.115880605634609 +- hgnc_id: "HGNC:10027" + p_haplo: 0.131800946326176 + p_triplo: 0.0792657866777857 +- hgnc_id: "HGNC:1004" + p_haplo: 0.595467487321396 + p_triplo: 0.561246331214584 +- hgnc_id: "HGNC:10044" + p_haplo: 0.136554036493754 + p_triplo: 0.432919570522516 +- hgnc_id: "HGNC:10045" + p_haplo: 0.0657328600471912 + p_triplo: 0.152724007111251 +- hgnc_id: "HGNC:10046" + p_haplo: 0.123487399040562 + p_triplo: 0.292429833705363 +- hgnc_id: "HGNC:10047" + p_haplo: 0.113641413264213 + p_triplo: 0.15416419022176 +- hgnc_id: "HGNC:10048" + p_haplo: 0.323832150579912 + p_triplo: 0.484784910591342 +- hgnc_id: "HGNC:1005" + p_haplo: 0.13983424517764 + p_triplo: 0.665822113127456 +- hgnc_id: "HGNC:10050" + p_haplo: 0.151955575339062 + p_triplo: 0.360102932571357 +- hgnc_id: "HGNC:10055" + p_haplo: 0.8275594314612 + p_triplo: 0.750584600354292 +- hgnc_id: "HGNC:10056" + p_haplo: 0.572720043739844 + p_triplo: 0.557460533408588 +- hgnc_id: "HGNC:10057" + p_haplo: 0.43622072041287 + p_triplo: 0.478395936645976 +- hgnc_id: "HGNC:10058" + p_haplo: 0.408755799209985 + p_triplo: 0.687888809068107 +- hgnc_id: "HGNC:10059" + p_haplo: 0.547580136779403 + p_triplo: 0.213633505701498 +- hgnc_id: "HGNC:1006" + p_haplo: 0.0967189894286233 + p_triplo: 0.635810845410965 +- hgnc_id: "HGNC:10060" + p_haplo: 0.902837090555477 + p_triplo: 0.795723116627289 +- hgnc_id: "HGNC:10061" + p_haplo: 0.807344631837219 + p_triplo: 0.897963403432895 +- hgnc_id: "HGNC:10062" + p_haplo: 0.725491030597039 + p_triplo: 0.853555697901964 +- hgnc_id: "HGNC:10063" + p_haplo: 0.27172370910632 + p_triplo: 0.128434474008952 +- hgnc_id: "HGNC:10064" + p_haplo: 0.910928119204422 + p_triplo: 0.982737121147012 +- hgnc_id: "HGNC:10065" + p_haplo: 0.966241318707073 + p_triplo: 0.999316859332394 +- hgnc_id: "HGNC:10066" + p_haplo: 0.874578751061676 + p_triplo: 0.667628979581721 +- hgnc_id: "HGNC:10067" + p_haplo: 0.971905354012335 + p_triplo: 0.632759998178046 +- hgnc_id: "HGNC:10068" + p_haplo: 0.160536244483389 + p_triplo: 0.676928473762138 +- hgnc_id: "HGNC:10069" + p_haplo: 0.516981942796761 + p_triplo: 0.342319189219115 +- hgnc_id: "HGNC:10070" + p_haplo: 0.412993029671106 + p_triplo: 0.647164090440479 +- hgnc_id: "HGNC:10071" + p_haplo: 0.889669101721259 + p_triplo: 0.865038452252153 +- hgnc_id: "HGNC:10072" + p_haplo: 0.313481235351924 + p_triplo: 0.413512124382261 +- hgnc_id: "HGNC:10073" + p_haplo: 0.563424407998167 + p_triplo: 0.762765692360237 +- hgnc_id: "HGNC:10074" + p_haplo: 0.338052145296305 + p_triplo: 0.719598976897797 +- hgnc_id: "HGNC:10075" + p_haplo: 0.506691395826307 + p_triplo: 0.373015782430888 +- hgnc_id: "HGNC:10078" + p_haplo: 0.427205434844887 + p_triplo: 0.402527268859349 +- hgnc_id: "HGNC:10079" + p_haplo: 0.792154716489579 + p_triplo: 0.178804113361382 +- hgnc_id: "HGNC:1008" + p_haplo: 0.806885279355396 + p_triplo: 0.835307652698077 +- hgnc_id: "HGNC:10080" + p_haplo: 0.81930946071566 + p_triplo: 0.902593623214117 +- hgnc_id: "HGNC:101" + p_haplo: 0.308050749124341 + p_triplo: 0.152217559979216 +- hgnc_id: "HGNC:1012" + p_haplo: 0.272605440120499 + p_triplo: 0.342006685383596 +- hgnc_id: "HGNC:1014" + p_haplo: 0.67795878156773 + p_triplo: 0.719866793984883 +- hgnc_id: "HGNC:102" + p_haplo: 0.522840450486518 + p_triplo: 0.526092416473453 +- hgnc_id: "HGNC:1020" + p_haplo: 0.292157116829386 + p_triplo: 0.764017189749496 +- hgnc_id: "HGNC:10241" + p_haplo: 0.219780311934887 + p_triplo: 0.299791796631666 +- hgnc_id: "HGNC:10249" + p_haplo: 0.734643174502237 + p_triplo: 0.601533081436727 +- hgnc_id: "HGNC:10250" + p_haplo: 0.469972783685526 + p_triplo: 0.282066970859767 +- hgnc_id: "HGNC:10251" + p_haplo: 0.956448943208406 + p_triplo: 0.728703446025755 +- hgnc_id: "HGNC:10252" + p_haplo: 0.996419024914427 + p_triplo: 0.992952129378599 +- hgnc_id: "HGNC:10253" + p_haplo: 0.936596364124579 + p_triplo: 0.594809720411909 +- hgnc_id: "HGNC:10254" + p_haplo: 0.279145728234666 + p_triplo: 0.419701637119203 +- hgnc_id: "HGNC:10256" + p_haplo: 0.972694441288497 + p_triplo: 0.983741116025604 +- hgnc_id: "HGNC:10257" + p_haplo: 0.823552551517366 + p_triplo: 0.537520048832893 +- hgnc_id: "HGNC:10258" + p_haplo: 0.941802528975386 + p_triplo: 0.907788886358466 +- hgnc_id: "HGNC:10259" + p_haplo: 0.937964435508447 + p_triplo: 0.911871012847644 +- hgnc_id: "HGNC:10260" + p_haplo: 0.843043990875882 + p_triplo: 0.904322981083521 +- hgnc_id: "HGNC:10261" + p_haplo: 0.0851224600257051 + p_triplo: 0.303676877707228 +- hgnc_id: "HGNC:10263" + p_haplo: 0.0545027456161877 + p_triplo: 0.449799055360849 +- hgnc_id: "HGNC:1027" + p_haplo: 0.811375109169534 + p_triplo: 0.198455538271003 +- hgnc_id: "HGNC:10288" + p_haplo: 0.540339606631162 + p_triplo: 0.0962868691649536 +- hgnc_id: "HGNC:10289" + p_haplo: 0.937967608268506 + p_triplo: 0.797023773570884 +- hgnc_id: "HGNC:1029" + p_haplo: 0.241487016281391 + p_triplo: 0.0810890822808233 +- hgnc_id: "HGNC:10290" + p_haplo: 0.499247168025553 + p_triplo: 0.484245665160061 +- hgnc_id: "HGNC:10291" + p_haplo: 0.475100650061675 + p_triplo: 0.133411170868771 +- hgnc_id: "HGNC:10293" + p_haplo: 0.698331684601822 + p_triplo: 0.588194694674049 +- hgnc_id: "HGNC:10294" + p_haplo: 0.399912025122001 + p_triplo: 0.21654423808381 +- hgnc_id: "HGNC:10296" + p_haplo: 0.772143397967072 + p_triplo: 0.316968187550486 +- hgnc_id: "HGNC:10297" + p_haplo: 0.10769151568157 + p_triplo: 0.22006944784855 +- hgnc_id: "HGNC:10299" + p_haplo: 0.792329322970926 + p_triplo: 0.606316602629384 +- hgnc_id: "HGNC:103" + p_haplo: 0.972639485875643 + p_triplo: 0.998704098843897 +- hgnc_id: "HGNC:1030" + p_haplo: 0.815150347443264 + p_triplo: 0.22804391177966 +- hgnc_id: "HGNC:10301" + p_haplo: 0.975008349896912 + p_triplo: 0.377718966401104 +- hgnc_id: "HGNC:10302" + p_haplo: 0.936716569876566 + p_triplo: 0.289600357344264 +- hgnc_id: "HGNC:10303" + p_haplo: 0.932390415645617 + p_triplo: 0.0950189047579182 +- hgnc_id: "HGNC:10304" + p_haplo: 0.827997536288805 + p_triplo: 0.335055774106253 +- hgnc_id: "HGNC:10305" + p_haplo: 0.841863678164315 + p_triplo: 0.368154853050523 +- hgnc_id: "HGNC:10306" + p_haplo: 0.983259496689891 + p_triplo: 0.419881262046933 +- hgnc_id: "HGNC:10307" + p_haplo: 0.956530279022528 + p_triplo: 0.203572831361337 +- hgnc_id: "HGNC:10310" + p_haplo: 0.821807312029074 + p_triplo: 0.498742959938776 + diff --git a/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap new file mode 100644 index 00000000..e717f735 --- /dev/null +++ b/src/genes/cli/snapshots/annonars__genes__cli__data__tests__deserialize_shet_record.snap @@ -0,0 +1,203 @@ +--- +source: src/genes/cli/data.rs +expression: records +--- +- hgnc_id: "HGNC:100" + s_het: 0.019 +- hgnc_id: "HGNC:10000" + s_het: 0.004 +- hgnc_id: "HGNC:10001" + s_het: 0.006 +- hgnc_id: "HGNC:10002" + s_het: 0.011 +- hgnc_id: "HGNC:10003" + s_het: 0.025 +- hgnc_id: "HGNC:10004" + s_het: 0.007 +- hgnc_id: "HGNC:10006" + s_het: 0.006 +- hgnc_id: "HGNC:10007" + s_het: 0.00079 +- hgnc_id: "HGNC:10008" + s_het: 0.015 +- hgnc_id: "HGNC:10009" + s_het: 0.007 +- hgnc_id: "HGNC:1001" + s_het: 0.023 +- hgnc_id: "HGNC:10011" + s_het: 0.014 +- hgnc_id: "HGNC:10012" + s_het: 0.003 +- hgnc_id: "HGNC:10017" + s_het: 0.006 +- hgnc_id: "HGNC:10018" + s_het: 0.014 +- hgnc_id: "HGNC:10019" + s_het: 0.014 +- hgnc_id: "HGNC:1002" + s_het: 0.01 +- hgnc_id: "HGNC:10020" + s_het: 0.015 +- hgnc_id: "HGNC:10023" + s_het: 0.013 +- hgnc_id: "HGNC:10024" + s_het: 0.005 +- hgnc_id: "HGNC:10025" + s_het: 0.074 +- hgnc_id: "HGNC:10026" + s_het: 0.003 +- hgnc_id: "HGNC:10027" + s_het: 0.003 +- hgnc_id: "HGNC:1004" + s_het: 0.004 +- hgnc_id: "HGNC:10044" + s_het: 0.006 +- hgnc_id: "HGNC:10045" + s_het: 0.00061 +- hgnc_id: "HGNC:10046" + s_het: 0.00144 +- hgnc_id: "HGNC:10047" + s_het: 0.00125 +- hgnc_id: "HGNC:10048" + s_het: 0.00173 +- hgnc_id: "HGNC:1005" + s_het: 0.014 +- hgnc_id: "HGNC:10050" + s_het: 0.007 +- hgnc_id: "HGNC:10055" + s_het: 0.00175 +- hgnc_id: "HGNC:10056" + s_het: 0.005 +- hgnc_id: "HGNC:10057" + s_het: 0.008 +- hgnc_id: "HGNC:10058" + s_het: 0.005 +- hgnc_id: "HGNC:1006" + s_het: 0.008 +- hgnc_id: "HGNC:10061" + s_het: 0.006 +- hgnc_id: "HGNC:10062" + s_het: 0.017 +- hgnc_id: "HGNC:10063" + s_het: 0.006 +- hgnc_id: "HGNC:10064" + s_het: 0.036 +- hgnc_id: "HGNC:10065" + s_het: 0.037 +- hgnc_id: "HGNC:10066" + s_het: 0.014 +- hgnc_id: "HGNC:10067" + s_het: 0.008 +- hgnc_id: "HGNC:10068" + s_het: 0.004 +- hgnc_id: "HGNC:10069" + s_het: 0.017 +- hgnc_id: "HGNC:10070" + s_het: 0.005 +- hgnc_id: "HGNC:10071" + s_het: 0.032 +- hgnc_id: "HGNC:10072" + s_het: 0.005 +- hgnc_id: "HGNC:10073" + s_het: 0.02 +- hgnc_id: "HGNC:10074" + s_het: 0.005 +- hgnc_id: "HGNC:10075" + s_het: 0.01 +- hgnc_id: "HGNC:10078" + s_het: 0.00152 +- hgnc_id: "HGNC:10079" + s_het: 0.009 +- hgnc_id: "HGNC:1008" + s_het: 0.019 +- hgnc_id: "HGNC:10080" + s_het: 0.017 +- hgnc_id: "HGNC:1012" + s_het: 0.006 +- hgnc_id: "HGNC:1014" + s_het: 0.062 +- hgnc_id: "HGNC:102" + s_het: 0.015 +- hgnc_id: "HGNC:1020" + s_het: 0.00243 +- hgnc_id: "HGNC:10241" + s_het: 0.008 +- hgnc_id: "HGNC:10249" + s_het: 0.012 +- hgnc_id: "HGNC:10251" + s_het: 0.049 +- hgnc_id: "HGNC:10252" + s_het: 0.091 +- hgnc_id: "HGNC:10253" + s_het: 0.015 +- hgnc_id: "HGNC:10254" + s_het: 0.004 +- hgnc_id: "HGNC:10256" + s_het: 0.012 +- hgnc_id: "HGNC:10257" + s_het: 0.023 +- hgnc_id: "HGNC:10258" + s_het: 0.044 +- hgnc_id: "HGNC:10259" + s_het: 0.031 +- hgnc_id: "HGNC:10263" + s_het: 0.006 +- hgnc_id: "HGNC:1027" + s_het: 0.006 +- hgnc_id: "HGNC:10274" + s_het: 0.012 +- hgnc_id: "HGNC:10288" + s_het: 0.009 +- hgnc_id: "HGNC:10289" + s_het: 0.014 +- hgnc_id: "HGNC:10290" + s_het: 0.01 +- hgnc_id: "HGNC:10291" + s_het: 0.003 +- hgnc_id: "HGNC:10293" + s_het: 0.003 +- hgnc_id: "HGNC:10294" + s_het: 0.005 +- hgnc_id: "HGNC:10295" + s_het: 0.038 +- hgnc_id: "HGNC:10296" + s_het: 0.004 +- hgnc_id: "HGNC:10297" + s_het: 0.01 +- hgnc_id: "HGNC:10298" + s_het: 0.012 +- hgnc_id: "HGNC:10299" + s_het: 0.014 +- hgnc_id: "HGNC:103" + s_het: 0.036 +- hgnc_id: "HGNC:1030" + s_het: 0.007 +- hgnc_id: "HGNC:10301" + s_het: 0.009 +- hgnc_id: "HGNC:10302" + s_het: 0.011 +- hgnc_id: "HGNC:10303" + s_het: 0.012 +- hgnc_id: "HGNC:10304" + s_het: 0.004 +- hgnc_id: "HGNC:10305" + s_het: 0.013 +- hgnc_id: "HGNC:10306" + s_het: 0.018 +- hgnc_id: "HGNC:10307" + s_het: 0.017 +- hgnc_id: "HGNC:10310" + s_het: 0.018 +- hgnc_id: "HGNC:10311" + s_het: 0.019 +- hgnc_id: "HGNC:10312" + s_het: 0.02 +- hgnc_id: "HGNC:10313" + s_het: 0.014 +- hgnc_id: "HGNC:10315" + s_het: 0.005 +- hgnc_id: "HGNC:10316" + s_het: 0.015 +- hgnc_id: "HGNC:10317" + s_het: 0.011 + From af928fdc086e564f49b9ead287e08392a581e1e9 Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 12:29:04 +0100 Subject: [PATCH 09/10] wip --- src/pbs/mod.rs | 1 - src/pbs/panelapp.rs | 5 ----- 2 files changed, 6 deletions(-) delete mode 100644 src/pbs/panelapp.rs diff --git a/src/pbs/mod.rs b/src/pbs/mod.rs index 53beb836..fbe92a71 100644 --- a/src/pbs/mod.rs +++ b/src/pbs/mod.rs @@ -7,5 +7,4 @@ pub mod functional; pub mod genes; pub mod gnomad; pub mod helixmtdb; -pub mod panelapp; pub mod regions; diff --git a/src/pbs/panelapp.rs b/src/pbs/panelapp.rs deleted file mode 100644 index ca0b0d2a..00000000 --- a/src/pbs/panelapp.rs +++ /dev/null @@ -1,5 +0,0 @@ -#![allow(missing_docs)] -//! Code generate for protobufs by `prost-build`. - -include!(concat!(env!("OUT_DIR"), "/annonars.panelapp.rs")); -include!(concat!(env!("OUT_DIR"), "/annonars.panelapp.serde.rs")); From e2f554283af932085f82247bff8f6f72bc3adc9e Mon Sep 17 00:00:00 2001 From: Manuel Holtgrewe Date: Wed, 3 Jan 2024 12:31:06 +0100 Subject: [PATCH 10/10] wip --- src/genes/cli/data.rs | 56 ++++++++++++++++++++--------------------- src/genes/cli/import.rs | 2 +- 2 files changed, 29 insertions(+), 29 deletions(-) diff --git a/src/genes/cli/data.rs b/src/genes/cli/data.rs index 15393910..c8ec3994 100644 --- a/src/genes/cli/data.rs +++ b/src/genes/cli/data.rs @@ -1604,13 +1604,13 @@ pub mod panelapp { pub gene_symbol: Option, } - impl Into for GeneData { - fn into(self) -> panel_app_record::GeneData { + impl From for panel_app_record::GeneData { + fn from(val: GeneData) -> Self { let GeneData { hgnc_id, hgnc_symbol, gene_symbol, - } = self; + } = val; panel_app_record::GeneData { hgnc_id, hgnc_symbol, @@ -1633,9 +1633,9 @@ pub mod panelapp { Region, } - impl Into for EntityType { - fn into(self) -> panel_app_record::EntityType { - match self { + impl From for panel_app_record::EntityType { + fn from(val: EntityType) -> Self { + match val { EntityType::Gene => panel_app_record::EntityType::Gene, EntityType::Str => panel_app_record::EntityType::Str, EntityType::Region => panel_app_record::EntityType::Region, @@ -1660,9 +1660,9 @@ pub mod panelapp { Green, } - impl Into for ConfidenceLevel { - fn into(self) -> panel_app_record::ConfidenceLevel { - match self { + impl From for panel_app_record::ConfidenceLevel { + fn from(val: ConfidenceLevel) -> Self { + match val { ConfidenceLevel::None => panel_app_record::ConfidenceLevel::None, ConfidenceLevel::Red => panel_app_record::ConfidenceLevel::Red, ConfidenceLevel::Amber => panel_app_record::ConfidenceLevel::Amber, @@ -1688,9 +1688,9 @@ pub mod panelapp { Incomplete, } - impl Into for Penetrance { - fn into(self) -> panel_app_record::Penetrance { - match self { + impl From for panel_app_record::Penetrance { + fn from(val: Penetrance) -> Self { + match val { Penetrance::Unknown => panel_app_record::Penetrance::Unknown, Penetrance::Complete => panel_app_record::Penetrance::Complete, Penetrance::Incomplete => panel_app_record::Penetrance::Incomplete, @@ -1709,12 +1709,12 @@ pub mod panelapp { pub number_of_regions: u32, } - impl Into for PanelStats { - fn into(self) -> panel_app_record::PanelStats { + impl From for panel_app_record::PanelStats { + fn from(val: PanelStats) -> Self { panel_app_record::PanelStats { - number_of_genes: self.number_of_genes, - number_of_strs: self.number_of_strs, - number_of_regions: self.number_of_regions, + number_of_genes: val.number_of_genes, + number_of_strs: val.number_of_strs, + number_of_regions: val.number_of_regions, } } } @@ -1730,13 +1730,13 @@ pub mod panelapp { pub description: String, } - impl Into for PanelType { - fn into(self) -> panel_app_record::PanelType { + impl From for panel_app_record::PanelType { + fn from(val: PanelType) -> Self { let PanelType { name, slug, description, - } = self; + } = val; panel_app_record::PanelType { name, slug, @@ -1770,8 +1770,8 @@ pub mod panelapp { pub types: Vec, } - impl Into for Panel { - fn into(self) -> panel_app_record::Panel { + impl From for panel_app_record::Panel { + fn from(val: Panel) -> Self { let Panel { id, hash_id, @@ -1783,7 +1783,7 @@ pub mod panelapp { relevant_disorders, stats, types, - } = self; + } = val; panel_app_record::Panel { id, hash_id, @@ -1796,7 +1796,7 @@ pub mod panelapp { stats: Some(Into::::into(stats)), types: types .into_iter() - .map(|t| Into::::into(t)) + .map(Into::::into) .collect(), } } @@ -1828,8 +1828,8 @@ pub mod panelapp { pub panel: Panel, } - impl Into for Record { - fn into(self) -> crate::pbs::genes::base::PanelAppRecord { + impl From for crate::pbs::genes::base::PanelAppRecord { + fn from(val: Record) -> Self { let Record { gene_data, entity_type, @@ -1841,9 +1841,9 @@ pub mod panelapp { phenotypes, mode_of_inheritance, panel, - } = self; + } = val; crate::pbs::genes::base::PanelAppRecord { - gene_data: gene_data.map(|g| Into::::into(g)), + gene_data: gene_data.map(Into::::into), entity_type: Into::::into(entity_type) as i32, entity_name, confidence_level: Into::::into(confidence_level) diff --git a/src/genes/cli/import.rs b/src/genes/cli/import.rs index 5e3390f6..bbc76375 100644 --- a/src/genes/cli/import.rs +++ b/src/genes/cli/import.rs @@ -978,7 +978,7 @@ fn convert_record(record: data::Record) -> pbs::genes::base::Record { let panelapp = panelapp .into_iter() - .map(|gene| Into::::into(gene)) + .map(Into::::into) .collect::>(); let rcnv = rcnv.map(|rcnv| {