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/** Mapping from transcript effect to label. */ | ||
export const TX_EFFECT_LABELS: { [key: string]: string } = { | ||
transcript_variant: 'whole tx', | ||
exon_variant: 'exonic', | ||
splice_region_variant: 'splicing', | ||
intron_variant: 'intronic', | ||
upstream_variant: 'upstream', | ||
downstream_variant: 'downstream', | ||
other: 'other' | ||
} |
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export * from './types' | ||
export * from './client' | ||
export * from './constants' |
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<script setup lang="ts"> | ||
import { | ||
CLINGEN_DOSAGE_COLOR, | ||
CLINGEN_DOSAGE_SCORES | ||
} from '@/components/GeneDetails/PathogenicityCard.c' | ||
// eslint-disable-next-line @typescript-eslint/no-unused-vars | ||
const props = defineProps<{ | ||
dosage?: string | ||
geneSymbol?: string | ||
}>() | ||
</script> | ||
|
||
<template> | ||
<template v-if="dosage === 'CLINGEN_DOSAGE_SCORE_RECESSIVE'"> | ||
<a | ||
:href="`https://search.clinicalgenome.org/kb/gene-dosage/${geneSymbol ?? ''}`" | ||
target="_blank" | ||
> | ||
<v-chip density="compact" rounded="xl" :class="`bg-${CLINGEN_DOSAGE_COLOR[dosage]}`"> | ||
AR | ||
</v-chip> | ||
<small class="pl-1"><v-icon>mdi-launch</v-icon></small> | ||
</a> | ||
</template> | ||
<template v-else-if="!dosage || dosage === 'CLINGEN_DOSAGE_SCORE_UNKNOWN'"> | ||
<v-chip density="compact" rounded="xl" :class="`bg-grey-lighten-5`"> N/A </v-chip> | ||
<small class="pl-1"> | ||
<v-icon><!--spacer only--></v-icon> | ||
</small> | ||
</template> | ||
<template v-else> | ||
<a | ||
:href="`https://search.clinicalgenome.org/kb/gene-dosage/${geneSymbol ?? ''}`" | ||
target="_blank" | ||
> | ||
<v-chip density="compact" rounded="xl" :class="`bg-${CLINGEN_DOSAGE_COLOR[dosage]}`"> | ||
{{ CLINGEN_DOSAGE_SCORES[dosage] }} | ||
</v-chip> | ||
<small class="pl-1"><v-icon>mdi-launch</v-icon></small> | ||
</a> | ||
</template> | ||
</template> |
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<script setup lang="ts"> | ||
import { computed } from 'vue' | ||
import { useRouter } from 'vue-router' | ||
import GeneDosage from './GeneDosage.vue' | ||
import ScoreChip from './ScoreChip.vue' | ||
import { type GenomeBuild } from '../../lib/genomeBuilds' | ||
/** This component's props. */ | ||
const props = defineProps<{ | ||
item: any | ||
hgncToEffect?: { [key: string]: string } | ||
sortKey?: string | ||
sortOrder?: 'asc' | 'desc' | ||
isSelected: boolean | ||
genomeBuild?: GenomeBuild | ||
}>() | ||
/** This component's emits. */ | ||
const emit = defineEmits(['toggleSelected']) | ||
const router = useRouter() | ||
/** | ||
* Pick smallest of the shortest RefSeq transcript IDs. | ||
* | ||
* @param refseqIds RefSeq transcript IDs to pick from | ||
*/ | ||
const pickRefSeqId = (refseqIds: string[] | undefined): string => { | ||
if (!refseqIds) { | ||
return 'N/A' | ||
} | ||
refseqIds.sort((a, b) => { | ||
if (a.length < b.length) { | ||
return -1 | ||
} else if (a.length > b.length) { | ||
return 1 | ||
} else { | ||
return a.localeCompare(b) | ||
} | ||
}) | ||
return refseqIds[0] | ||
} | ||
/** Return icon name for sorting */ | ||
const sortIcon = computed<string>(() => { | ||
return props.sortOrder === 'desc' ? 'mdi-triangle-small-down' : 'mdi-triangle-small-up' | ||
}) | ||
</script> | ||
|
||
<template> | ||
<v-sheet class="pa-3 mt-1 border"> | ||
<v-row no-gutter> | ||
<v-col | ||
cols="2" | ||
class="d-flex flex-row pa-1" | ||
@click.prevent=" | ||
() => { | ||
if (!isSelected) { | ||
emit('toggleSelected') | ||
} | ||
} | ||
" | ||
> | ||
<div class="flex-shrink-0 pl-0 pr-3 py-2"> | ||
<v-icon :icon="isSelected ? 'mdi-magnify-expand' : 'mdi-crop-square'" /> | ||
</div> | ||
<div class="flex-grow-0"> | ||
<div class="text-h6"> | ||
<v-icon v-if="sortKey === 'hgnc.symbol'" :icon="sortIcon" class="ml-n2 mr-n3" /> | ||
{{ item.raw.hgnc.symbol }} | ||
<span class="text-caption text-no-wrap"> | ||
<template v-if="hgncToEffect"> | ||
({{ hgncToEffect[item.raw.hgnc.agr] ?? 'unknown' }}) | ||
</template> | ||
<template v-else> N/A </template> | ||
</span> | ||
</div> | ||
<div> | ||
{{ pickRefSeqId(item.raw.dbnsfp?.refseqId) }} | ||
| | ||
<a | ||
style="cursor: pointer" | ||
title="go to Gene details page" | ||
@click.prevent=" | ||
router.push({ | ||
name: 'gene-details', | ||
params: { gene: item.raw.hgnc.symbol } | ||
}) | ||
" | ||
> | ||
<v-icon>mdi-arrow-right-circle-outline</v-icon> | ||
</a> | ||
</div> | ||
</div> | ||
</v-col> | ||
<v-col cols="10" class="d-flex flex-column pa-0"> | ||
<v-row no-gutter class="ma-0"> | ||
<v-col cols="3" class="pr-3 align-self-end pa-1"> | ||
<table style="width: 280px"> | ||
<tr> | ||
<td | ||
class="text-no-wrap" | ||
:class="{ | ||
'text-decoration-underline': sortKey === 'clingen.haploinsufficiencyScore' | ||
}" | ||
> | ||
<v-icon | ||
v-if="sortKey === 'clingen.haploinsufficiencyScore'" | ||
:icon="sortIcon" | ||
class="ml-n2 mr-n1" | ||
/> | ||
ClinGen haploinsufficiency | ||
</td> | ||
<td class="text-right text-no-wrap"> | ||
<GeneDosage | ||
:dosage="item.raw.clingen?.haploinsufficiencyScore" | ||
:gene-symbol="item.raw.hgnc?.symbol" | ||
/> | ||
</td> | ||
</tr> | ||
<tr> | ||
<td | ||
class="text-no-wrap" | ||
:class="{ | ||
'text-decoration-underline': sortKey === 'clingen.triplosensitivityScore' | ||
}" | ||
> | ||
<v-icon | ||
v-if="sortKey === 'clingen.triplosensitivityScore'" | ||
:icon="sortIcon" | ||
class="ml-n2 mr-n1" | ||
/> | ||
ClinGen triplosensitivity | ||
</td> | ||
<td class="text-right text-no-wrap"> | ||
<GeneDosage | ||
:dosage="item.raw.clingen?.triplosensitivityScore" | ||
:gene-symbol="item.raw.hgnc?.symbol" | ||
/> | ||
</td> | ||
</tr> | ||
</table> | ||
</v-col> | ||
<v-col cols="3" class="pr-3 align-self-end pa-1"> | ||
<table style="width: 280px"> | ||
<tr> | ||
<td | ||
class="text-no-wrap" | ||
:class="{ 'text-decoration-underline': sortKey === 'gnomadConstraints.pli' }" | ||
> | ||
<v-icon | ||
v-if="sortKey === 'gnomadConstraints.pli'" | ||
:icon="sortIcon" | ||
class="ml-n2 mr-n1" | ||
/> | ||
gnomAD pLI | ||
</td> | ||
<td class="text-right text-no-wrap"> | ||
<ScoreChip | ||
:value="item.raw.gnomadConstraints?.pli" | ||
:href-url=" | ||
item.raw.hgnc.ensemblGeneId | ||
? `https://gnomad.broadinstitute.org/gene/${item.raw.hgnc.ensemblGeneId}?dataset=gnomad_r2_1` | ||
: undefined | ||
" | ||
:range-gray="[-9999, 0.9]" | ||
:range-red="[0.9, 9999]" | ||
/> | ||
</td> | ||
</tr> | ||
<tr> | ||
<td class="text-no-wrap"> | ||
<v-icon | ||
v-if="sortKey === 'gnomadConstraints.oeLofUpper'" | ||
:icon="sortIcon" | ||
class="ml-n2 mr-n1" | ||
/> | ||
gnomAD LOEUF | ||
</td> | ||
<td class="text-right text-no-wrap"> | ||
<ScoreChip | ||
:value="item.raw.gnomadConstraints?.oeLofUpper" | ||
:href-url=" | ||
item.raw.hgnc.ensemblGeneId | ||
? `https://gnomad.broadinstitute.org/gene/${item.raw.hgnc.ensemblGeneId}?dataset=gnomad_r2_1` | ||
: undefined | ||
" | ||
:range-gray="[-9999, 0.6]" | ||
:range-red="[0.6, 9999]" | ||
/> | ||
</td> | ||
</tr> | ||
</table> | ||
</v-col> | ||
<v-col cols="3" class="pr-3 align-self-end pa-1"> | ||
<!-- | ||
https://europepmc.org/article/MED/20976243 | ||
ClinGen Dosage Sensitivity Single Gene Evaluation Process v1.0 => >=0.9 | ||
--> | ||
<table style="width: 280px"> | ||
<tr> | ||
<td | ||
class="text-no-wrap" | ||
:class="{ 'text-decoration-underline': sortKey === 'decipherHi.pHi' }" | ||
> | ||
<v-icon | ||
v-if="sortKey === 'decipherHi.pHi'" | ||
:icon="sortIcon" | ||
class="ml-n2 mr-n1" | ||
/> | ||
DECIPHER HI | ||
</td> | ||
<td class="text-right text-no-wrap"> | ||
<ScoreChip | ||
:value="item.raw.decipherHi?.pHi" | ||
:href-url=" | ||
item.raw.hgnc.symbol | ||
? `https://www.deciphergenomics.org/gene/${item.raw.hgnc.symbol}/` | ||
: undefined | ||
" | ||
:range-gray="[-9999, 0.9]" | ||
:range-red="[0.9, 9999]" | ||
/> | ||
</td> | ||
</tr> | ||
<tr> | ||
<td> | ||
<!-- placeholder--> | ||
| ||
</td> | ||
</tr> | ||
</table> | ||
</v-col> | ||
<v-col cols="3" class="pr-3 align-self-end pa-1"> | ||
<!-- | ||
https://europepmc.org/article/MED/35917817 | ||
--> | ||
<table style="width: 280px"> | ||
<tr> | ||
<td | ||
class="text-no-wrap" | ||
:class="{ 'text-decoration-underline': sortKey === 'rcnv.pHaplo' }" | ||
> | ||
<v-icon v-if="sortKey === 'rcnv.pHaplo'" :icon="sortIcon" class="ml-n2 mr-n1" /> | ||
RCNV pHaplo | ||
</td> | ||
<td class="text-right text-no-wrap"> | ||
<ScoreChip | ||
:value="item.raw.rcnv?.pHaplo" | ||
:href-url=" | ||
item.raw.hgnc.symbol | ||
? `https://www.deciphergenomics.org/gene/${item.raw.hgnc.symbol}/` | ||
: undefined | ||
" | ||
:range-green="[0.0, 0.2]" | ||
:range-gray="[0.2, 0.7]" | ||
:range-orange="[0.7, 0.86]" | ||
:range-red="[0.86, 1.0]" | ||
/> | ||
</td> | ||
</tr> | ||
<tr> | ||
<td | ||
class="text-no-wrap" | ||
:class="{ 'text-decoration-underline': sortKey === 'rcnv.pTriplo' }" | ||
> | ||
<v-icon v-if="sortKey === 'rcnv.pTriplo'" :icon="sortIcon" class="ml-n2 mr-n1" /> | ||
RCNV pTriplo | ||
</td> | ||
<td class="text-right text-no-wrap"> | ||
<ScoreChip | ||
:value="item.raw.rcnv?.pTriplo" | ||
:href-url=" | ||
item.raw.hgnc.symbol | ||
? `https://www.deciphergenomics.org/gene/${item.raw.hgnc.symbol}/` | ||
: undefined | ||
" | ||
:range-green="[0.0, 0.2]" | ||
:range-gray="[0.2, 0.8]" | ||
:range-orange="[0.8, 0.94]" | ||
:range-red="[0.94, 1.0]" | ||
/> | ||
</td> | ||
</tr> | ||
</table> | ||
</v-col> | ||
</v-row> | ||
</v-col> | ||
</v-row> | ||
</v-sheet> | ||
</template> |
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