@sjcrh/proteinpaint-shared 2.186.0 → 2.188.0
This diff represents the content of publicly available package versions that have been released to one of the supported registries. The information contained in this diff is provided for informational purposes only and reflects changes between package versions as they appear in their respective public registries.
- package/README.md +10 -2
- package/constants/AiHisto.ts +27 -0
- package/constants/README.md +11 -0
- package/devTs.ts +3 -0
- package/dist/constants/AiHisto.d.ts +23 -0
- package/dist/constants/AiHisto.js +31 -0
- package/dist/constants/AiHisto.js.map +7 -0
- package/dist/src/aiHisto.d.ts +5 -0
- package/dist/src/aiHisto.js +15 -0
- package/dist/src/aiHisto.js.map +7 -0
- package/dist/src/bulk.cnv.js +83 -0
- package/dist/src/bulk.cnv.js.map +7 -0
- package/dist/src/bulk.del.js +119 -0
- package/dist/src/bulk.del.js.map +7 -0
- package/dist/src/bulk.itd.js +119 -0
- package/dist/src/bulk.itd.js.map +7 -0
- package/dist/src/bulk.js +183 -0
- package/dist/src/bulk.js.map +7 -0
- package/dist/src/bulk.snv.js +175 -0
- package/dist/src/bulk.snv.js.map +7 -0
- package/dist/src/bulk.sv.js +266 -0
- package/dist/src/bulk.sv.js.map +7 -0
- package/dist/src/bulk.svjson.js +151 -0
- package/dist/src/bulk.svjson.js.map +7 -0
- package/dist/src/bulk.trunc.js +122 -0
- package/dist/src/bulk.trunc.js.map +7 -0
- package/dist/src/clustering.js +71 -0
- package/dist/src/clustering.js.map +7 -0
- package/dist/src/common.js +1302 -0
- package/dist/src/common.js.map +7 -0
- package/dist/src/compute.percentile.js +10 -0
- package/dist/src/compute.percentile.js.map +7 -0
- package/dist/src/doc.d.ts +7 -0
- package/dist/src/doc.js +10 -0
- package/dist/src/doc.js.map +7 -0
- package/dist/src/fetch-helpers.js +177 -0
- package/dist/src/fetch-helpers.js.map +7 -0
- package/dist/src/fileSize.js +10 -0
- package/dist/src/fileSize.js.map +7 -0
- package/dist/src/filter.d.ts +62 -0
- package/dist/src/filter.js +194 -0
- package/dist/src/filter.js.map +7 -0
- package/dist/src/hash.js +20 -0
- package/dist/src/hash.js.map +7 -0
- package/dist/src/helpers.js +66 -0
- package/dist/src/helpers.js.map +7 -0
- package/dist/src/index.d.ts +26 -0
- package/dist/src/index.js +27 -0
- package/dist/src/index.js.map +7 -0
- package/dist/src/joinUrl.d.ts +1 -0
- package/dist/src/joinUrl.js +17 -0
- package/dist/src/joinUrl.js.map +7 -0
- package/dist/src/mds3tk.js +64 -0
- package/dist/src/mds3tk.js.map +7 -0
- package/dist/src/roundValue.js +57 -0
- package/dist/src/roundValue.js.map +7 -0
- package/dist/src/termdb.bins.js +272 -0
- package/dist/src/termdb.bins.js.map +7 -0
- package/dist/src/termdb.initbinconfig.js +79 -0
- package/dist/src/termdb.initbinconfig.js.map +7 -0
- package/dist/src/termdb.usecase.js +239 -0
- package/dist/src/termdb.usecase.js.map +7 -0
- package/dist/src/terms.d.ts +83 -0
- package/dist/src/terms.js +327 -0
- package/dist/src/terms.js.map +7 -0
- package/dist/src/time.d.ts +9 -0
- package/dist/src/time.js +23 -0
- package/dist/src/time.js.map +7 -0
- package/dist/src/tree.js +82 -0
- package/dist/src/tree.js.map +7 -0
- package/dist/src/urljson.d.ts +8 -0
- package/dist/src/urljson.js +31 -0
- package/dist/src/urljson.js.map +7 -0
- package/dist/src/vcf.ann.js +56 -0
- package/dist/src/vcf.ann.js.map +7 -0
- package/dist/src/vcf.csq.js +82 -0
- package/dist/src/vcf.csq.js.map +7 -0
- package/dist/src/vcf.info.js +40 -0
- package/dist/src/vcf.info.js.map +7 -0
- package/dist/src/vcf.js +439 -0
- package/dist/src/vcf.js.map +7 -0
- package/dist/src/vcf.type.js +17 -0
- package/dist/src/vcf.type.js.map +7 -0
- package/package.json +20 -11
- package/src/bulk.cnv.js +0 -86
- package/src/bulk.del.js +0 -124
- package/src/bulk.itd.js +0 -123
- package/src/bulk.js +0 -197
- package/src/bulk.snv.js +0 -271
- package/src/bulk.sv.js +0 -276
- package/src/bulk.svjson.js +0 -164
- package/src/bulk.trunc.js +0 -132
- package/src/clustering.js +0 -66
- package/src/common.js +0 -1608
- package/src/compute.percentile.js +0 -11
- package/src/doc.js +0 -6
- package/src/fetch-helpers.js +0 -323
- package/src/fileSize.js +0 -6
- package/src/filter.js +0 -221
- package/src/hash.js +0 -21
- package/src/helpers.js +0 -88
- package/src/index.js +0 -26
- package/src/joinUrl.js +0 -14
- package/src/mds3tk.js +0 -100
- package/src/roundValue.js +0 -94
- package/src/termdb.bins.js +0 -456
- package/src/termdb.initbinconfig.js +0 -130
- package/src/termdb.usecase.js +0 -317
- package/src/terms.js +0 -341
- package/src/time.js +0 -22
- package/src/tree.js +0 -138
- package/src/urljson.js +0 -41
- package/src/vcf.ann.js +0 -62
- package/src/vcf.csq.js +0 -153
- package/src/vcf.info.js +0 -50
- package/src/vcf.js +0 -654
- package/src/vcf.type.js +0 -24
package/src/common.js
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/*
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shared between client and server
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exported functions
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- bplen()
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- mclasstester()
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- basecompliment()
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*/
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import { rgb } from "d3-color"
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import * as d3scale from "d3-scale"
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import * as d3 from "d3"
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import { getWrappedTvslst } from "./filter.js"
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// moved from `#shared/terms` to here, so that this can be passed as
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// part of 'common' argument to exported dataset js function, at server runtime
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// 3/30/2026 - changed from literal object to a class with static properties
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// to make it easier for IDEs and tsc compiler to catch typos in consumer code
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export class TermTypeGroups {
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static DICTIONARY_VARIABLES = "Dictionary Variables"
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static DNA_METHYLATION = "DNA Methylation"
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static GENE_DEPENDENCY = "Gene Dependency"
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static GENE_EXPRESSION = "Gene Expression"
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static ISOFORM_EXPRESSION = "Isoform Expression"
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static GSEA = "GSEA"
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static METABOLITE_INTENSITY = "Metabolite Intensity"
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static PROTEOME_ABUNDANCE = "Proteome Abundance"
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static MUTATION_CNV_FUSION = "Mutation/CNV/Fusion"
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static MUTATION_SIGNATURE = "Mutation Signature"
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static PROTEIN_EXPRESSION = "Protein Expression"
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static SINGLECELL_CELLTYPE = "Single-cell Cell Type"
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static SINGLECELL_GENE_EXPRESSION = "Single-cell Gene Expression"
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static SNP = "SNP Genotype"
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static SNP_LIST = "SNP List"
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static SNP_LOCUS = "SNP Locus"
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static SPLICE_JUNCTION = "Splice Junction"
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static SSGSEA = "Geneset Expression"
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static TERM_COLLECTION = "Term Collection"
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static VARIANT_GENOTYPE = "Variant Genotype"
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}
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// freeze so that mutating any of the static properties above will throw at runtime
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Object.freeze(TermTypeGroups)
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export const defaultcolor = rgb("#8AB1D4").darker()
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export const default_text_color = rgb("#aaa").darker().darker()
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export const exoncolor = "#4F8053"
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export const plotColor = "#ce768e"
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// something that has something to do with coding gene reading frame
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export const IN_frame = true
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export const OUT_frame = false
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/********************************
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* on dt usage *
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*********************************
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- once a dt value is decided and used with actual dataset,
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the value must not be altered, since dataset file may hardcode such value and reassigning to a new integer will break!
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- never test dt value by range e.g. if(dt>10), it breaks! only test equality!
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- in code import variable from here and DO NOT use literal values, to make code tractable
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*/
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export const dtsnvindel = 1
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export const dtfusionrna = 2
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export const dtgeneexpression = 3
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export const dtcnv = 4
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export const dtsv = 5
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export const dtitd = 6
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export const dtdel = 7
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export const dtnloss = 8
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export const dtcloss = 9
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export const dtloh = 10
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export const dtmetaboliteintensity = 11
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export const dtssgsea = 12
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export const dtdnamethylation = 13
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export const dtproteomeabundance = 14
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// add new dt value here. !!!DO NOT change value of existing dt!!!
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export const dt2label = {
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[dtsnvindel]: "SNV/indel",
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[dtfusionrna]: "Fusion RNA",
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[dtcnv]: "CNV",
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[dtsv]: "SV",
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[dtitd]: "ITD",
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[dtdel]: "Deletion",
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[dtnloss]: "N-loss",
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[dtcloss]: "C-loss",
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[dtloh]: "LOH",
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[dtgeneexpression]: "Gene Expression",
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[dtmetaboliteintensity]: "Metabolite Intensity",
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[dtproteomeabundance]: "Proteome Abundance",
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}
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// Maps dt types to UI labels and lesion types for GRIN2
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// All dt types use lesionTypes array for consistency
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export const dt2lesion = {
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[dtsnvindel]: {
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uilabel: "SNV/INDEL (Mutation)",
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lesionTypes: [
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{ name: "Mutation", lesionType: "mutation", color: "#44AA44" },
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],
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},
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[dtcnv]: {
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uilabel: "CNV (Copy Number Variation)",
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lesionTypes: [
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{ name: "Loss", lesionType: "loss", color: "#4444FF" },
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{ name: "Gain", lesionType: "gain", color: "#FF4444" },
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],
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[dtsv]: {
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uilabel: "SV (Structural Variation)",
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lesionTypes: [{ name: "SV", lesionType: "sv", color: "#9932CC" }],
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},
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[dtfusionrna]: {
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uilabel: "Fusion (RNA Fusion)",
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lesionTypes: [{ name: "Fusion", lesionType: "fusion", color: "#FFA500" }],
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},
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// Maps GRIN2 option types to their corresponding dt values
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export const optionToDt = {
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snvindelOptions: dtsnvindel,
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cnvOptions: dtcnv,
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fusionOptions: dtfusionrna,
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svOptions: dtsv,
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}
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export const mclass = {
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M: {
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label: "MISSENSE",
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color: "#3987CC",
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dt: dtsnvindel,
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desc: "A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved",
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key: "M",
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},
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E: {
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label: "EXON",
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color: "#bcbd22",
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dt: dtsnvindel,
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desc: "A variant in the exon of a non-coding RNA.",
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key: "E",
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},
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F: {
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label: "FRAMESHIFT",
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color: "rgb(200, 61, 61)",
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dt: dtsnvindel,
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desc: "A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three",
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key: "F",
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},
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N: {
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label: "NONSENSE",
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color: "#ff7f0e",
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dt: dtsnvindel,
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desc: "A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened transcript",
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key: "N",
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},
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S: {
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label: "SILENT",
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color: "#2ca02c",
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dt: dtsnvindel,
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desc: "A sequence variant where there is no resulting change to the encoded amino acid",
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key: "S",
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},
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D: {
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label: "PROTEINDEL",
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color: "rgb(100, 100, 100)",
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dt: dtsnvindel,
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desc: "An inframe non synonymous variant that deletes bases from the coding sequence",
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key: "D",
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},
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I: {
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label: "PROTEININS",
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color: "#8c564b",
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dt: dtsnvindel,
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desc: "An inframe non synonymous variant that inserts bases into in the coding sequence",
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key: "I",
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},
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ProteinAltering: {
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label: "PROTEINALTERING",
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color: "#5a0034",
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dt: dtsnvindel,
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desc: "An inframe complex change to the coding sequence",
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key: "ProteinAltering",
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},
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P: {
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label: "SPLICE_REGION",
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color: "#9467bd",
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dt: dtsnvindel,
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desc: "A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron",
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key: "P",
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},
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L: {
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label: "SPLICE",
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color: "#6633FF",
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dt: dtsnvindel,
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desc: "A variant near an exon edge that may affect splicing functionality",
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key: "L",
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},
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Intron: {
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label: "INTRON",
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color: "#656565",
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dt: dtsnvindel,
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desc: "An intronic variant.",
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key: "Intron",
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},
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StopLost: {
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label: "Stop lost",
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color: "#ff7f0e",
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dt: dtsnvindel,
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desc: "A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript",
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key: "StopLost",
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},
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StartLost: {
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label: "Start lost",
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color: "#ff7f0e",
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dt: dtsnvindel,
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desc: "A codon variant that changes at least one base of the canonical start codon",
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key: "StartLost",
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},
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// quick fix!! for showing genes that are not tested in samples (e.g. gene panels) in the heatmap
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Blank: {
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label: "Not tested",
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color: "#fff",
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dt: dtsnvindel,
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desc: "This gene is not tested.",
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key: "Blank",
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},
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WT: {
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label: "Wildtype",
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color: "#D3D3D3",
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dt: dtsnvindel,
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desc: "Wildtype",
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key: "WT",
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},
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}
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export const mclassitd = "ITD"
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mclass[mclassitd] = {
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label: "ITD",
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color: "#ff70ff",
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dt: dtitd,
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desc: "In-frame internal tandem duplication.",
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key: mclassitd,
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}
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export const mclassdel = "DEL"
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mclass[mclassdel] = {
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label: "DELETION, intragenic",
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color: "#858585",
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dt: dtdel,
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desc: "Intragenic deletion.",
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key: mclassdel,
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}
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-
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export const mclassnloss = "NLOSS"
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mclass[mclassnloss] = {
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label: "N-terminus loss",
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color: "#545454",
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dt: dtnloss,
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desc: "N-terminus loss due to translocation",
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key: mclassnloss,
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}
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export const mclasscloss = "CLOSS"
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mclass[mclasscloss] = {
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label: "C-terminus loss",
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color: "#545454",
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dt: dtcloss,
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desc: "C-terminus loss due to translocation",
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key: mclasscloss,
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}
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export const mclassutr3 = "Utr3"
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mclass[mclassutr3] = {
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label: "UTR_3",
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color: "#998199",
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dt: dtsnvindel,
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desc: "A variant in the 3' untranslated region.",
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key: mclassutr3,
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|
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}
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|
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|
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export const mclassutr5 = "Utr5"
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|
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mclass[mclassutr5] = {
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label: "UTR_5",
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|
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color: "#819981",
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|
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dt: dtsnvindel,
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|
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desc: "A variant in the 5' untranslated region.",
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|
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key: mclassutr5,
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|
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}
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|
-
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293
|
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export const mclassnonstandard = "X"
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|
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mclass[mclassnonstandard] = {
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|
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label: "NONSTANDARD",
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|
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color: "black",
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|
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dt: dtsnvindel,
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|
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desc: "A mutation class that either does not match our notation, or is unspecified.",
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|
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key: mclassnonstandard,
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300
|
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}
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301
|
-
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302
|
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export const mclassnoncoding = "noncoding"
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|
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mclass[mclassnoncoding] = {
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|
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label: "NONCODING",
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305
|
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color: "black",
|
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306
|
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dt: dtsnvindel,
|
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307
|
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desc: "Noncoding mutation.",
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|
-
key: mclassnoncoding,
|
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309
|
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}
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|
-
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311
|
-
/*
|
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312
|
-
includes full list of consequences from
|
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313
|
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https://www.ensembl.org/info/genome/variation/prediction/predicted_data.html
|
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314
|
-
each entry is SO term with matching pp class
|
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315
|
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entries that cannot be mapped to dtsnvindel classes are commented off
|
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316
|
-
order of entries is severity
|
|
317
|
-
|
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318
|
-
* since source of data! *
|
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319
|
-
from this array derives multiple types of lookup tables to perform mapping on both ways
|
|
320
|
-
*/
|
|
321
|
-
const SOterms = [
|
|
322
|
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//transcript_ablation // not supported: 1) do not expect this in maf/vcf 2) should be represented as cnv deletion but not the legacy unused value "dtdel"; if needed can reenable
|
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323
|
-
["splice_acceptor_variant", "L"],
|
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324
|
-
["splice_donor_variant", "L"],
|
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325
|
-
["stop_gained", "N"],
|
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326
|
-
["frameshift_variant", "F"],
|
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327
|
-
["stop_lost", "StopLost"],
|
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328
|
-
["start_lost", "StartLost"],
|
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329
|
-
//transcript_amplification // not supported, should be represented by cnv instead
|
|
330
|
-
["feature_elongation", mclassnoncoding],
|
|
331
|
-
["feature_truncation", mclassnoncoding],
|
|
332
|
-
["inframe_insertion", "I"],
|
|
333
|
-
["inframe_deletion", "D"],
|
|
334
|
-
["missense_variant", "M"],
|
|
335
|
-
["protein_altering_variant", "ProteinAltering"],
|
|
336
|
-
["splice_donor_5th_base_variant", "P"],
|
|
337
|
-
["splice_region_variant", "P"],
|
|
338
|
-
["splice_donor_region_variant", "P"],
|
|
339
|
-
["splice_polypyrimidine_tract_variant", "P"],
|
|
340
|
-
["incomplete_terminal_codon_variant", "N"],
|
|
341
|
-
["start_retained_variant", "S"],
|
|
342
|
-
["stop_retained_variant", "S"],
|
|
343
|
-
["synonymous_variant", "S"],
|
|
344
|
-
["coding_sequence_variant", "E"],
|
|
345
|
-
["mature_miRNA_variant", "E"],
|
|
346
|
-
["5_prime_UTR_variant", mclassutr5],
|
|
347
|
-
["3_prime_UTR_variant", mclassutr3],
|
|
348
|
-
["non_coding_transcript_exon_variant", "E"],
|
|
349
|
-
["intron_variant", "Intron"],
|
|
350
|
-
["NMD_transcript_variant", "F"],
|
|
351
|
-
["non_coding_transcript_variant", "E"],
|
|
352
|
-
["coding_transcript_variant", "E"],
|
|
353
|
-
["upstream_gene_variant", mclassnoncoding],
|
|
354
|
-
["downstream_gene_variant", mclassnoncoding],
|
|
355
|
-
["TFBS_ablation", mclassnoncoding],
|
|
356
|
-
["TFBS_amplification", mclassnoncoding],
|
|
357
|
-
["TF_binding_site_variant", mclassnoncoding],
|
|
358
|
-
["regulatory_region_ablation", mclassnoncoding],
|
|
359
|
-
["regulatory_region_amplification", mclassnoncoding],
|
|
360
|
-
["regulatory_region_variant", mclassnoncoding],
|
|
361
|
-
["intergenic_variant", mclassnoncoding],
|
|
362
|
-
["sequence_variant", mclassnonstandard],
|
|
363
|
-
]
|
|
364
|
-
|
|
365
|
-
// maps a pp class to an array of consequences
|
|
366
|
-
// k: pp class, v: array of consequences. case sensitive
|
|
367
|
-
export const class2SOterm = new Map()
|
|
368
|
-
for (const [csq, cls] of SOterms) {
|
|
369
|
-
if (!class2SOterm.has(cls)) class2SOterm.set(cls, [])
|
|
370
|
-
class2SOterm.get(cls).push(csq)
|
|
371
|
-
}
|
|
372
|
-
|
|
373
|
-
// maps a consequence to a pp class. no severity info. use vepinfo() if needs severity
|
|
374
|
-
// k: consequence, v: pp class. case sensitive.
|
|
375
|
-
export const SOterm2class = new Map()
|
|
376
|
-
for (const [csq, cls] of SOterms) {
|
|
377
|
-
SOterm2class.set(csq, cls)
|
|
378
|
-
}
|
|
379
|
-
|
|
380
|
-
// outdated function to match with adhoc nonstandard notations, only used in legacy code utils/src/bulk.snv.js
|
|
381
|
-
// DO NOT USE to map vep consequences
|
|
382
|
-
export function mclasstester(s) {
|
|
383
|
-
switch (s.toLowerCase()) {
|
|
384
|
-
case "missense_mutation":
|
|
385
|
-
return "M"
|
|
386
|
-
case "nonsense_mutation":
|
|
387
|
-
return "N"
|
|
388
|
-
case "splice_site":
|
|
389
|
-
return "L"
|
|
390
|
-
case "splice_region":
|
|
391
|
-
return "P"
|
|
392
|
-
case "rna":
|
|
393
|
-
return mclassnoncoding
|
|
394
|
-
case "frame_shift_del":
|
|
395
|
-
return "F"
|
|
396
|
-
case "frame_shift_ins":
|
|
397
|
-
return "F"
|
|
398
|
-
case "in_frame_del":
|
|
399
|
-
return "D"
|
|
400
|
-
case "in_frame_ins":
|
|
401
|
-
return "I"
|
|
402
|
-
case "protein_altering_variant":
|
|
403
|
-
return "ProteinAltering"
|
|
404
|
-
case "translation_start_site":
|
|
405
|
-
return mclassnonstandard
|
|
406
|
-
case "nonstop_mutation":
|
|
407
|
-
return "N"
|
|
408
|
-
case "3'utr":
|
|
409
|
-
return mclassutr3
|
|
410
|
-
case "3'flank":
|
|
411
|
-
return mclassnoncoding
|
|
412
|
-
case "5'utr":
|
|
413
|
-
return mclassutr5
|
|
414
|
-
case "5'flank":
|
|
415
|
-
return mclassnoncoding
|
|
416
|
-
case "silent":
|
|
417
|
-
return "S"
|
|
418
|
-
case "blank":
|
|
419
|
-
return "Blank"
|
|
420
|
-
default:
|
|
421
|
-
return null
|
|
422
|
-
}
|
|
423
|
-
}
|
|
424
|
-
|
|
425
|
-
export const mclassfusionrna = "Fuserna"
|
|
426
|
-
mclass[mclassfusionrna] = {
|
|
427
|
-
label: "Fusion transcript",
|
|
428
|
-
color: "#545454",
|
|
429
|
-
dt: dtfusionrna,
|
|
430
|
-
desc:
|
|
431
|
-
"Marks the break points leading to fusion transcripts.<br>" +
|
|
432
|
-
"<span style=\"font-size:150%\">◐</span> - 3' end of the break point is fused to the 5' end of another break point in a different gene.<br>" +
|
|
433
|
-
"<span style=\"font-size:150%\">◑</span> - 5' end of the break point is fused to the 3' end of another break point in a different gene.",
|
|
434
|
-
key: mclassfusionrna,
|
|
435
|
-
}
|
|
436
|
-
export const mclasssv = "SV"
|
|
437
|
-
mclass[mclasssv] = {
|
|
438
|
-
label: "Structural variation",
|
|
439
|
-
color: "#858585",
|
|
440
|
-
dt: dtsv,
|
|
441
|
-
desc:
|
|
442
|
-
"<span style=\"font-size:150%\">◐</span> - 3' end of the break point is fused to the 5' end of another break point in a different gene.<br>" +
|
|
443
|
-
"<span style=\"font-size:150%\">◑</span> - 5' end of the break point is fused to the 3' end of another break point in a different gene.",
|
|
444
|
-
key: mclasssv,
|
|
445
|
-
}
|
|
446
|
-
|
|
447
|
-
// "CNV_amp" represents "CNV Gain" and is used in both 2-category and 5-category CNV data representation
|
|
448
|
-
// "CNV_amplification" represents CNV amplification and is used in 5-category CNV
|
|
449
|
-
// "CNV_amp" have to stay as-is since it may be hardcoded in lots of data beyond portal code.
|
|
450
|
-
export const mclasscnvgain = "CNV_amp"
|
|
451
|
-
mclass[mclasscnvgain] = {
|
|
452
|
-
label: "Copy number gain", // TODO change to 'Gain'
|
|
453
|
-
color: "#e9a3c9",
|
|
454
|
-
dt: dtcnv,
|
|
455
|
-
desc: "Copy number gain",
|
|
456
|
-
key: mclasscnvgain,
|
|
457
|
-
}
|
|
458
|
-
|
|
459
|
-
export const mclasscnvloss = "CNV_loss"
|
|
460
|
-
mclass[mclasscnvloss] = {
|
|
461
|
-
label: "Copy number loss",
|
|
462
|
-
color: "#a1d76a",
|
|
463
|
-
dt: dtcnv,
|
|
464
|
-
desc: "Copy number loss",
|
|
465
|
-
key: mclasscnvloss,
|
|
466
|
-
}
|
|
467
|
-
|
|
468
|
-
// mclasscnvAmp is next level above mclasscnvgain and is used in 5-category CNV data
|
|
469
|
-
export const mclasscnvAmp = "CNV_amplification"
|
|
470
|
-
mclass[mclasscnvAmp] = {
|
|
471
|
-
label: "Copy number amplification",
|
|
472
|
-
color: "#ff0000",
|
|
473
|
-
dt: dtcnv,
|
|
474
|
-
desc: "Copy number amplification",
|
|
475
|
-
key: mclasscnvAmp,
|
|
476
|
-
}
|
|
477
|
-
|
|
478
|
-
export const mclasscnvHomozygousDel = "CNV_homozygous_deletion"
|
|
479
|
-
mclass[mclasscnvHomozygousDel] = {
|
|
480
|
-
label: "Copy number homozygous deletion",
|
|
481
|
-
color: "#0000ff",
|
|
482
|
-
dt: dtcnv,
|
|
483
|
-
desc: "Copy number homozygous deletion",
|
|
484
|
-
key: mclasscnvHomozygousDel,
|
|
485
|
-
}
|
|
486
|
-
|
|
487
|
-
export const mclasscnvloh = "CNV_loh"
|
|
488
|
-
mclass[mclasscnvloh] = {
|
|
489
|
-
label: "LOH",
|
|
490
|
-
color: "#12EDFC",
|
|
491
|
-
dt: dtcnv,
|
|
492
|
-
desc: "Loss of heterozygosity",
|
|
493
|
-
key: mclasscnvloh,
|
|
494
|
-
}
|
|
495
|
-
|
|
496
|
-
// for VCF
|
|
497
|
-
export const mclasssnv = "snv"
|
|
498
|
-
mclass[mclasssnv] = {
|
|
499
|
-
label: "SNV",
|
|
500
|
-
color: "#92a2d4",
|
|
501
|
-
dt: dtsnvindel,
|
|
502
|
-
desc: "Single nucleotide variation",
|
|
503
|
-
key: mclasssnv,
|
|
504
|
-
}
|
|
505
|
-
|
|
506
|
-
export const mclassmnv = "mnv"
|
|
507
|
-
mclass[mclassmnv] = {
|
|
508
|
-
label: "MNV",
|
|
509
|
-
color: "#92a2d4",
|
|
510
|
-
dt: dtsnvindel,
|
|
511
|
-
desc: "Multiple nucleotide variation",
|
|
512
|
-
key: mclassmnv,
|
|
513
|
-
}
|
|
514
|
-
|
|
515
|
-
export const mclassinsertion = "insertion"
|
|
516
|
-
mclass[mclassinsertion] = {
|
|
517
|
-
label: "Sequence insertion",
|
|
518
|
-
color: "#bd8e91",
|
|
519
|
-
dt: dtsnvindel,
|
|
520
|
-
desc: "Sequence insertion",
|
|
521
|
-
key: mclassinsertion,
|
|
522
|
-
}
|
|
523
|
-
|
|
524
|
-
export const mclassdeletion = "deletion"
|
|
525
|
-
mclass[mclassdeletion] = {
|
|
526
|
-
label: "Sequence deletion",
|
|
527
|
-
color: "#b5a174",
|
|
528
|
-
dt: dtsnvindel,
|
|
529
|
-
desc: "Sequence deletion",
|
|
530
|
-
key: mclassdeletion,
|
|
531
|
-
}
|
|
532
|
-
// TODO complex indel
|
|
533
|
-
|
|
534
|
-
/* tricky
|
|
535
|
-
when a mds3 tk uses numeric cnv, data points from tk.cnv.cnvLst[] has .class=dtcnv but no class!
|
|
536
|
-
a "cnv" entry needs to be present in mclass legend, and thus this wrapper function over mclass{} to allow dtcnv as key
|
|
537
|
-
the tricky case doesn't apply to other plots
|
|
538
|
-
*/
|
|
539
|
-
export function mds3tkMclass(k) {
|
|
540
|
-
if (k == dtcnv) {
|
|
541
|
-
return {
|
|
542
|
-
color: "#858585",
|
|
543
|
-
label: "CNV",
|
|
544
|
-
desc: "Copy number variation",
|
|
545
|
-
}
|
|
546
|
-
}
|
|
547
|
-
return mclass[k]
|
|
548
|
-
}
|
|
549
|
-
|
|
550
|
-
export const dt2color = {
|
|
551
|
-
[dtsnvindel]: mclass.M.color, // general color for snvindel irrespective of class (when class is not available)
|
|
552
|
-
// add new dt as needed
|
|
553
|
-
}
|
|
554
|
-
|
|
555
|
-
// option to override mutation class attribute values
|
|
556
|
-
export function applyOverrides(overrides = {}) {
|
|
557
|
-
if (overrides.mclass) {
|
|
558
|
-
for (const key in overrides.mclass) {
|
|
559
|
-
// allow to fill-in mutation class that are missing from mclass;
|
|
560
|
-
// may be useful for things like 'Not tested', etc, that may not be in mclass by default
|
|
561
|
-
// but are used by a customer with its own PP server instance
|
|
562
|
-
if (!mclass[key]) mclass[key] = {}
|
|
563
|
-
for (const subkey in overrides.mclass[key]) {
|
|
564
|
-
mclass[key][subkey] = overrides.mclass[key][subkey]
|
|
565
|
-
}
|
|
566
|
-
}
|
|
567
|
-
}
|
|
568
|
-
}
|
|
569
|
-
|
|
570
|
-
/* legacy function. input is comma-joined multiple consequences
|
|
571
|
-
performs case insensitive match and returns severity rank
|
|
572
|
-
TODO share data with SOterms
|
|
573
|
-
*/
|
|
574
|
-
export const vepinfo = function (s) {
|
|
575
|
-
const l = s.toLowerCase().split(",")
|
|
576
|
-
let rank = 1
|
|
577
|
-
if (l.indexOf("transcript_ablation") != -1) {
|
|
578
|
-
// FIXME no class for whole gene deletion
|
|
579
|
-
return [dtdel, mclassdel, rank]
|
|
580
|
-
}
|
|
581
|
-
rank++
|
|
582
|
-
if (l.indexOf("splice_acceptor_variant") != -1) return [dtsnvindel, "L", rank]
|
|
583
|
-
rank++
|
|
584
|
-
if (l.indexOf("splice_donor_variant") != -1) return [dtsnvindel, "L", rank]
|
|
585
|
-
rank++
|
|
586
|
-
if (l.indexOf("stop_gained") != -1) return [dtsnvindel, "N", rank]
|
|
587
|
-
rank++
|
|
588
|
-
if (l.indexOf("frameshift_variant") != -1) return [dtsnvindel, "F", rank]
|
|
589
|
-
rank++
|
|
590
|
-
if (l.indexOf("stop_lost") != -1) return [dtsnvindel, "N", rank]
|
|
591
|
-
rank++
|
|
592
|
-
if (l.indexOf("start_lost") != -1) return [dtsnvindel, "N", rank]
|
|
593
|
-
rank++
|
|
594
|
-
if (l.indexOf("transcript_amplification") != -1) {
|
|
595
|
-
// FIXME no class for whole gene amp
|
|
596
|
-
return [dtsnvindel, mclassnonstandard, rank]
|
|
597
|
-
}
|
|
598
|
-
rank++
|
|
599
|
-
if (
|
|
600
|
-
l.indexOf("inframe_insertion") != -1 ||
|
|
601
|
-
l.indexOf("conservative_inframe_insertion") != -1 ||
|
|
602
|
-
l.indexOf("disruptive_inframe_insertion") != -1
|
|
603
|
-
)
|
|
604
|
-
return [dtsnvindel, "I", rank]
|
|
605
|
-
rank++
|
|
606
|
-
if (
|
|
607
|
-
l.indexOf("inframe_deletion") != -1 ||
|
|
608
|
-
l.indexOf("conservative_inframe_deletion") != -1 ||
|
|
609
|
-
l.indexOf("disruptive_inframe_deletion") != -1
|
|
610
|
-
)
|
|
611
|
-
return [dtsnvindel, "D", rank]
|
|
612
|
-
rank++
|
|
613
|
-
if (l.indexOf("missense_variant") != -1) return [dtsnvindel, "M", rank]
|
|
614
|
-
rank++
|
|
615
|
-
if (l.indexOf("protein_altering_variant") != -1)
|
|
616
|
-
return [dtsnvindel, "ProteinAltering", rank]
|
|
617
|
-
rank++
|
|
618
|
-
if (l.indexOf("splice_region_variant") != -1) return [dtsnvindel, "P", rank]
|
|
619
|
-
rank++
|
|
620
|
-
if (l.indexOf("incomplete_terminal_codon_variant") != -1)
|
|
621
|
-
return [dtsnvindel, "N", rank]
|
|
622
|
-
rank++
|
|
623
|
-
if (l.indexOf("stop_retained_variant") != -1) return [dtsnvindel, "S", rank]
|
|
624
|
-
rank++
|
|
625
|
-
if (l.indexOf("synonymous_variant") != -1) return [dtsnvindel, "S", rank]
|
|
626
|
-
rank++
|
|
627
|
-
if (l.indexOf("coding_sequence_variant") != -1)
|
|
628
|
-
return [dtsnvindel, mclassnonstandard, rank]
|
|
629
|
-
rank++
|
|
630
|
-
if (l.indexOf("mature_mirna_variant") != -1) return [dtsnvindel, "E", rank]
|
|
631
|
-
rank++
|
|
632
|
-
if (l.indexOf("5_prime_utr_variant") != -1)
|
|
633
|
-
return [dtsnvindel, mclassutr5, rank]
|
|
634
|
-
rank++
|
|
635
|
-
if (l.indexOf("3_prime_utr_variant") != -1)
|
|
636
|
-
return [dtsnvindel, mclassutr3, rank]
|
|
637
|
-
rank++
|
|
638
|
-
if (l.indexOf("non_coding_transcript_exon_variant") != -1)
|
|
639
|
-
return [dtsnvindel, "E", rank]
|
|
640
|
-
rank++
|
|
641
|
-
if (l.indexOf("intron_variant") != -1) return [dtsnvindel, "Intron", rank]
|
|
642
|
-
rank++
|
|
643
|
-
if (l.indexOf("nmd_transcript_variant") != -1) return [dtsnvindel, "S", rank]
|
|
644
|
-
rank++
|
|
645
|
-
if (l.indexOf("non_coding_transcript_variant") != -1)
|
|
646
|
-
return [dtsnvindel, "E", rank]
|
|
647
|
-
rank++
|
|
648
|
-
if (l.indexOf("upstream_gene_variant") != -1)
|
|
649
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
650
|
-
rank++
|
|
651
|
-
if (l.indexOf("downstream_gene_variant") != -1)
|
|
652
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
653
|
-
rank++
|
|
654
|
-
if (l.indexOf("tfbs_ablation") != -1)
|
|
655
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
656
|
-
rank++
|
|
657
|
-
if (l.indexOf("tfbs_amplification") != -1)
|
|
658
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
659
|
-
rank++
|
|
660
|
-
if (l.indexOf("tf_binding_site_variant") != -1)
|
|
661
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
662
|
-
rank++
|
|
663
|
-
if (l.indexOf("regulatory_region_ablation") != -1)
|
|
664
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
665
|
-
rank++
|
|
666
|
-
if (l.indexOf("regulatory_region_amplification") != -1)
|
|
667
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
668
|
-
rank++
|
|
669
|
-
if (l.indexOf("feature_elongation") != -1)
|
|
670
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
671
|
-
rank++
|
|
672
|
-
if (l.indexOf("regulatory_region_variant") != -1)
|
|
673
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
674
|
-
rank++
|
|
675
|
-
if (l.indexOf("feature_truncation") != -1)
|
|
676
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
677
|
-
rank++
|
|
678
|
-
if (l.indexOf("intergenic_variant") != -1)
|
|
679
|
-
return [dtsnvindel, mclassnoncoding, rank]
|
|
680
|
-
rank++
|
|
681
|
-
return [dtsnvindel, mclassnonstandard, rank]
|
|
682
|
-
}
|
|
683
|
-
|
|
684
|
-
// m orgin
|
|
685
|
-
export const germlinelegend =
|
|
686
|
-
'<circle cx="7" cy="12" r="7" fill="#b1b1b1"></circle><path d="M6.735557395310443e-16,-11A11,11 0 0,1 11,0L9,0A9,9 0 0,0 5.51091059616309e-16,-9Z" transform="translate(7,12)" fill="#858585" stroke="none"></path>'
|
|
687
|
-
|
|
688
|
-
export const morigin = {}
|
|
689
|
-
|
|
690
|
-
export const moriginsomatic = "S"
|
|
691
|
-
morigin[moriginsomatic] = {
|
|
692
|
-
label: "Somatic",
|
|
693
|
-
desc: "A variant found only in a tumor sample. The proportion is indicated by lack of any arc.",
|
|
694
|
-
legend: '<circle cx="7" cy="12" r="7" fill="#b1b1b1"></circle>',
|
|
695
|
-
}
|
|
696
|
-
export const morigingermline = "G"
|
|
697
|
-
morigin[morigingermline] = {
|
|
698
|
-
label: "Germline",
|
|
699
|
-
desc: "A constitutional variant found in a normal sample. The proportion is indicated by the span of the solid arc within the whole circle.",
|
|
700
|
-
legend: germlinelegend,
|
|
701
|
-
}
|
|
702
|
-
|
|
703
|
-
morigin.germline = morigin[morigingermline]
|
|
704
|
-
morigin.somatic = morigin[moriginsomatic]
|
|
705
|
-
|
|
706
|
-
export const moriginrelapse = "R"
|
|
707
|
-
morigin[moriginrelapse] = {
|
|
708
|
-
label: "Relapse",
|
|
709
|
-
desc: "A somatic variant found only in a relapse sample. The proportion is indicated by the span of the hollow arc within the whole circle.",
|
|
710
|
-
legend:
|
|
711
|
-
'<circle cx="7" cy="12" r="7" fill="#b1b1b1"></circle><path d="M6.735557395310443e-16,-11A11,11 0 0,1 11,0L9,0A9,9 0 0,0 5.51091059616309e-16,-9Z" transform="translate(7,12)" fill="none" stroke="#858585"></path>',
|
|
712
|
-
}
|
|
713
|
-
export const morigingermlinepathogenic = "GP"
|
|
714
|
-
morigin[morigingermlinepathogenic] = {
|
|
715
|
-
label: "Germline pathogenic",
|
|
716
|
-
desc: "A constitutional variant with pathogenic allele.",
|
|
717
|
-
legend: germlinelegend,
|
|
718
|
-
}
|
|
719
|
-
export const morigingermlinenonpathogenic = "GNP"
|
|
720
|
-
morigin[morigingermlinenonpathogenic] = {
|
|
721
|
-
label: "Germline non-pathogenic",
|
|
722
|
-
desc: "A constitutional variant with non-pathogenic allele.",
|
|
723
|
-
legend: germlinelegend,
|
|
724
|
-
hidden: true,
|
|
725
|
-
}
|
|
726
|
-
|
|
727
|
-
export const tkt = {
|
|
728
|
-
usegm: "usegm",
|
|
729
|
-
ds: "dataset",
|
|
730
|
-
bigwig: "bigwig",
|
|
731
|
-
bigwigstranded: "bigwigstranded",
|
|
732
|
-
junction: "junction",
|
|
733
|
-
mdsjunction: "mdsjunction",
|
|
734
|
-
mdssvcnv: "mdssvcnv", // replaced by mds3
|
|
735
|
-
mdsexpressionrank: "mdsexpressionrank",
|
|
736
|
-
mdsvcf: "mdsvcf", // for snv/indels, currently vcf, may include MAF
|
|
737
|
-
//mdsgeneral:'mdsgeneral', // replaces mdssvcnv ****** not ready yet
|
|
738
|
-
bedj: "bedj",
|
|
739
|
-
pgv: "profilegenevalue",
|
|
740
|
-
bampile: "bampile",
|
|
741
|
-
hicstraw: "hicstraw",
|
|
742
|
-
expressionrank: "expressionrank",
|
|
743
|
-
aicheck: "aicheck",
|
|
744
|
-
ase: "ase",
|
|
745
|
-
mds3: "mds3", //
|
|
746
|
-
bedgraphdot: "bedgraphdot",
|
|
747
|
-
bam: "bam",
|
|
748
|
-
ld: "ld",
|
|
749
|
-
}
|
|
750
|
-
|
|
751
|
-
export function validtkt(what) {
|
|
752
|
-
for (const k in tkt) {
|
|
753
|
-
if (what == tkt[k]) {
|
|
754
|
-
return true
|
|
755
|
-
}
|
|
756
|
-
}
|
|
757
|
-
return false
|
|
758
|
-
}
|
|
759
|
-
|
|
760
|
-
/*
|
|
761
|
-
member track types from mdsvcf
|
|
762
|
-
to get rid of hardcoded strings
|
|
763
|
-
in future may include MAF format files
|
|
764
|
-
*/
|
|
765
|
-
export const mdsvcftype = {
|
|
766
|
-
vcf: "vcf",
|
|
767
|
-
}
|
|
768
|
-
|
|
769
|
-
/*
|
|
770
|
-
for custom mdssvcnv track
|
|
771
|
-
or general track
|
|
772
|
-
to avoid using hard-coded string
|
|
773
|
-
*/
|
|
774
|
-
export const custommdstktype = {
|
|
775
|
-
vcf: "vcf",
|
|
776
|
-
svcnvitd: "svcnvitd",
|
|
777
|
-
geneexpression: "geneexpression",
|
|
778
|
-
}
|
|
779
|
-
|
|
780
|
-
// codons that are not here are stop codon!!
|
|
781
|
-
export const codon = {
|
|
782
|
-
GCT: "A",
|
|
783
|
-
GCC: "A",
|
|
784
|
-
GCA: "A",
|
|
785
|
-
GCG: "A",
|
|
786
|
-
CGT: "R",
|
|
787
|
-
CGC: "R",
|
|
788
|
-
CGA: "R",
|
|
789
|
-
CGG: "R",
|
|
790
|
-
AGA: "R",
|
|
791
|
-
AGG: "R",
|
|
792
|
-
AAT: "N",
|
|
793
|
-
AAC: "N",
|
|
794
|
-
GAT: "D",
|
|
795
|
-
GAC: "D",
|
|
796
|
-
TGT: "C",
|
|
797
|
-
TGC: "C",
|
|
798
|
-
CAA: "Q",
|
|
799
|
-
CAG: "Q",
|
|
800
|
-
GAA: "E",
|
|
801
|
-
GAG: "E",
|
|
802
|
-
GGT: "G",
|
|
803
|
-
GGC: "G",
|
|
804
|
-
GGA: "G",
|
|
805
|
-
GGG: "G",
|
|
806
|
-
CAT: "H",
|
|
807
|
-
CAC: "H",
|
|
808
|
-
ATT: "I",
|
|
809
|
-
ATC: "I",
|
|
810
|
-
ATA: "I",
|
|
811
|
-
TTA: "L",
|
|
812
|
-
TTG: "L",
|
|
813
|
-
CTT: "L",
|
|
814
|
-
CTC: "L",
|
|
815
|
-
CTA: "L",
|
|
816
|
-
CTG: "L",
|
|
817
|
-
AAA: "K",
|
|
818
|
-
AAG: "K",
|
|
819
|
-
ATG: "M",
|
|
820
|
-
TTT: "F",
|
|
821
|
-
TTC: "F",
|
|
822
|
-
CCT: "P",
|
|
823
|
-
CCC: "P",
|
|
824
|
-
CCA: "P",
|
|
825
|
-
CCG: "P",
|
|
826
|
-
TCT: "S",
|
|
827
|
-
TCC: "S",
|
|
828
|
-
TCA: "S",
|
|
829
|
-
TCG: "S",
|
|
830
|
-
AGT: "S",
|
|
831
|
-
AGC: "S",
|
|
832
|
-
ACT: "T",
|
|
833
|
-
ACC: "T",
|
|
834
|
-
ACA: "T",
|
|
835
|
-
ACG: "T",
|
|
836
|
-
TGG: "W",
|
|
837
|
-
TAT: "Y",
|
|
838
|
-
TAC: "Y",
|
|
839
|
-
GTT: "V",
|
|
840
|
-
GTC: "V",
|
|
841
|
-
GTA: "V",
|
|
842
|
-
GTG: "V",
|
|
843
|
-
}
|
|
844
|
-
|
|
845
|
-
export const codon_stop = "*"
|
|
846
|
-
|
|
847
|
-
export function nt2aa(gm) {
|
|
848
|
-
// must convert genome seq to upper case!!!
|
|
849
|
-
if (!gm.genomicseq) return undefined
|
|
850
|
-
const enlst = []
|
|
851
|
-
if (gm.coding) {
|
|
852
|
-
for (const [i, e] of gm.coding.entries()) {
|
|
853
|
-
const s = gm.genomicseq.substr(e[0] - gm.start, e[1] - e[0])
|
|
854
|
-
if (gm.strand == "-") {
|
|
855
|
-
enlst.push(reversecompliment(s))
|
|
856
|
-
} else {
|
|
857
|
-
enlst.push(s)
|
|
858
|
-
}
|
|
859
|
-
}
|
|
860
|
-
}
|
|
861
|
-
const nt = enlst.join("")
|
|
862
|
-
const pep = []
|
|
863
|
-
|
|
864
|
-
/*
|
|
865
|
-
if startCodonFrame is set, will not begin translation from first nt, but will skip 1 or 2 nt at the beginning
|
|
866
|
-
in case of IGKC, frame=1 means it will borrow 1 nt from the previous IGKJ exons
|
|
867
|
-
so the first two nucleotides from the current exon will have to be skipped when translating IGKC alone
|
|
868
|
-
*/
|
|
869
|
-
const startntidx = gm.startCodonFrame ? 3 - gm.startCodonFrame : 0
|
|
870
|
-
for (let i = startntidx; i < nt.length; i += 3) {
|
|
871
|
-
const a = codon[nt.substr(i, 3)]
|
|
872
|
-
pep.push(a || codon_stop)
|
|
873
|
-
}
|
|
874
|
-
gm.cdseq = nt
|
|
875
|
-
return pep.join("")
|
|
876
|
-
}
|
|
877
|
-
|
|
878
|
-
export function bplen(len, isfile) {
|
|
879
|
-
// if "isfile" is true, to measure file size instead of basepair len
|
|
880
|
-
if (len >= 1000000000) return (len / 1000000000).toFixed(1) + " Gb"
|
|
881
|
-
if (len >= 10000000) return Math.ceil(len / 1000000) + " Mb"
|
|
882
|
-
if (len >= 1000000) return (len / 1000000).toFixed(1) + " Mb"
|
|
883
|
-
if (len >= 10000) return Math.ceil(len / 1000) + " Kb"
|
|
884
|
-
if (len >= 1000) return (len / 1000).toFixed(1) + " Kb"
|
|
885
|
-
return len + (isfile ? "bytes" : " bp")
|
|
886
|
-
}
|
|
887
|
-
|
|
888
|
-
export const basecolor = {
|
|
889
|
-
A: "#ca0020",
|
|
890
|
-
T: "#f4a582",
|
|
891
|
-
C: "#92c5de",
|
|
892
|
-
G: "#0571b0",
|
|
893
|
-
}
|
|
894
|
-
|
|
895
|
-
export function basecompliment(nt) {
|
|
896
|
-
switch (nt) {
|
|
897
|
-
case "A":
|
|
898
|
-
return "T"
|
|
899
|
-
case "T":
|
|
900
|
-
return "A"
|
|
901
|
-
case "C":
|
|
902
|
-
return "G"
|
|
903
|
-
case "G":
|
|
904
|
-
return "C"
|
|
905
|
-
case "a":
|
|
906
|
-
return "t"
|
|
907
|
-
case "t":
|
|
908
|
-
return "a"
|
|
909
|
-
case "c":
|
|
910
|
-
return "g"
|
|
911
|
-
case "g":
|
|
912
|
-
return "c"
|
|
913
|
-
default:
|
|
914
|
-
return nt
|
|
915
|
-
}
|
|
916
|
-
}
|
|
917
|
-
|
|
918
|
-
export function reversecompliment(s) {
|
|
919
|
-
const tmp = []
|
|
920
|
-
for (let i = s.length - 1; i >= 0; i--) {
|
|
921
|
-
tmp.push(basecompliment(s[i]))
|
|
922
|
-
}
|
|
923
|
-
return tmp.join("")
|
|
924
|
-
}
|
|
925
|
-
|
|
926
|
-
export function spliceeventchangegmexon(gm, evt) {
|
|
927
|
-
/*
|
|
928
|
-
alter gm.coding[], by exon-skip/alt events
|
|
929
|
-
for frame checking
|
|
930
|
-
gm must have coding
|
|
931
|
-
*/
|
|
932
|
-
const gm2 = {
|
|
933
|
-
chr: gm.chr,
|
|
934
|
-
start: gm.start,
|
|
935
|
-
stop: gm.stop,
|
|
936
|
-
strand: gm.strand,
|
|
937
|
-
coding: [],
|
|
938
|
-
}
|
|
939
|
-
if (evt.isskipexon || evt.isaltexon) {
|
|
940
|
-
for (let i = 0; i < gm.exon.length; i++) {
|
|
941
|
-
const codingstart = Math.max(gm.codingstart, gm.exon[i][0])
|
|
942
|
-
const codingstop = Math.min(gm.codingstop, gm.exon[i][1])
|
|
943
|
-
if (codingstart > codingstop) {
|
|
944
|
-
// not coding exon
|
|
945
|
-
continue
|
|
946
|
-
}
|
|
947
|
-
if (evt.skippedexon.indexOf(i) == -1) {
|
|
948
|
-
// not skipped
|
|
949
|
-
gm2.coding.push([codingstart, codingstop])
|
|
950
|
-
} else {
|
|
951
|
-
// skipped
|
|
952
|
-
}
|
|
953
|
-
}
|
|
954
|
-
} else if (evt.a5ss || evt.a3ss) {
|
|
955
|
-
// still equal number of exons
|
|
956
|
-
// adjust the affected exon first, then figure out coding[]
|
|
957
|
-
const exons = gm.exon.map((e) => [e[0], e[1]])
|
|
958
|
-
const forward = gm.strand == "+"
|
|
959
|
-
if (evt.a5ss) {
|
|
960
|
-
if (forward) {
|
|
961
|
-
exons[evt.exon5idx][1] = evt.junctionB.start
|
|
962
|
-
} else {
|
|
963
|
-
exons[evt.exon5idx + 1][0] = evt.junctionB.stop
|
|
964
|
-
}
|
|
965
|
-
} else {
|
|
966
|
-
if (forward) {
|
|
967
|
-
exons[evt.exon5idx + 1][0] = evt.junctionB.stop
|
|
968
|
-
} else {
|
|
969
|
-
exons[evt.exon5idx][1] = evt.junctionB.start
|
|
970
|
-
}
|
|
971
|
-
}
|
|
972
|
-
// from new exons, figure out coding exons
|
|
973
|
-
for (const e of exons) {
|
|
974
|
-
const codingstart = Math.max(gm.codingstart, e[0])
|
|
975
|
-
const codingstop = Math.min(gm.codingstop, e[1])
|
|
976
|
-
if (codingstart > codingstop) {
|
|
977
|
-
// not coding exon
|
|
978
|
-
continue
|
|
979
|
-
}
|
|
980
|
-
gm2.coding.push([codingstart, codingstop])
|
|
981
|
-
}
|
|
982
|
-
}
|
|
983
|
-
return gm2
|
|
984
|
-
}
|
|
985
|
-
|
|
986
|
-
export function fasta2gmframecheck(gm, str) {
|
|
987
|
-
/*
|
|
988
|
-
gm{}
|
|
989
|
-
.chr
|
|
990
|
-
.start
|
|
991
|
-
.stop
|
|
992
|
-
start/stop is transcript position
|
|
993
|
-
.strand
|
|
994
|
-
.coding[]
|
|
995
|
-
str
|
|
996
|
-
samtools faidx output
|
|
997
|
-
*/
|
|
998
|
-
const lines = str.split("\n")
|
|
999
|
-
// remove fasta header
|
|
1000
|
-
lines.shift()
|
|
1001
|
-
gm.genomicseq = lines.join("").toUpperCase()
|
|
1002
|
-
|
|
1003
|
-
const aaseq = nt2aa(gm)
|
|
1004
|
-
|
|
1005
|
-
let thisframe = OUT_frame
|
|
1006
|
-
const stopcodonidx = aaseq.indexOf(codon_stop)
|
|
1007
|
-
if (stopcodonidx == aaseq.length - 1) {
|
|
1008
|
-
// the first appearance of stop codon is at the last of translation
|
|
1009
|
-
thisframe = IN_frame
|
|
1010
|
-
}
|
|
1011
|
-
return thisframe
|
|
1012
|
-
}
|
|
1013
|
-
|
|
1014
|
-
export function validate_vcfinfofilter(obj) {
|
|
1015
|
-
/*
|
|
1016
|
-
validate vcfinfofilter as from embedding api or dataset
|
|
1017
|
-
*/
|
|
1018
|
-
|
|
1019
|
-
if (!obj.lst) return ".lst missing"
|
|
1020
|
-
|
|
1021
|
-
if (!Array.isArray(obj.lst)) return "input is not an array"
|
|
1022
|
-
|
|
1023
|
-
for (const set of obj.lst) {
|
|
1024
|
-
if (!set.name) return "name missing from a set of .vcfinfofilter.lst"
|
|
1025
|
-
|
|
1026
|
-
if (set.autocategory || set.categories) {
|
|
1027
|
-
// categorical info, auto or defined
|
|
1028
|
-
|
|
1029
|
-
if (!set.autocategory) {
|
|
1030
|
-
for (const k in set.categories) {
|
|
1031
|
-
const v = set.categories[k]
|
|
1032
|
-
if (!set.autocolor && !v.color)
|
|
1033
|
-
return (
|
|
1034
|
-
".color missing for class " +
|
|
1035
|
-
k +
|
|
1036
|
-
" from .categories of set " +
|
|
1037
|
-
set.name
|
|
1038
|
-
)
|
|
1039
|
-
if (!v.label) {
|
|
1040
|
-
v.label = k
|
|
1041
|
-
}
|
|
1042
|
-
}
|
|
1043
|
-
}
|
|
1044
|
-
|
|
1045
|
-
if (set.categoryhidden) {
|
|
1046
|
-
for (const k in set.categoryhidden) {
|
|
1047
|
-
if (!set.categories[k])
|
|
1048
|
-
return (
|
|
1049
|
-
"unknown hidden-by-default category " +
|
|
1050
|
-
k +
|
|
1051
|
-
" from set " +
|
|
1052
|
-
set.name
|
|
1053
|
-
)
|
|
1054
|
-
}
|
|
1055
|
-
} else {
|
|
1056
|
-
set.categoryhidden = {}
|
|
1057
|
-
}
|
|
1058
|
-
} else if (set.numericfilter) {
|
|
1059
|
-
// otherwise, numerical value, the style of population frequency filter
|
|
1060
|
-
const lst = []
|
|
1061
|
-
for (const v of set.numericfilter) {
|
|
1062
|
-
if (typeof v == "number") {
|
|
1063
|
-
/*
|
|
1064
|
-
just a number, defaults to 'lower-than'
|
|
1065
|
-
*/
|
|
1066
|
-
lst.push({ side: "<", value: v })
|
|
1067
|
-
} else {
|
|
1068
|
-
lst.push({
|
|
1069
|
-
side: v.side || "<",
|
|
1070
|
-
value: v.value,
|
|
1071
|
-
})
|
|
1072
|
-
}
|
|
1073
|
-
}
|
|
1074
|
-
set.numericfilter = lst
|
|
1075
|
-
|
|
1076
|
-
//return 'no .categories or .numericfilter from set '+set.name
|
|
1077
|
-
}
|
|
1078
|
-
|
|
1079
|
-
if (set.altalleleinfo) {
|
|
1080
|
-
if (!set.altalleleinfo.key) {
|
|
1081
|
-
return ".key missing from .altalleleinfo from set " + set.name
|
|
1082
|
-
}
|
|
1083
|
-
} else if (set.locusinfo) {
|
|
1084
|
-
if (!set.locusinfo.key) {
|
|
1085
|
-
return ".key missing from .locusinfo from set " + set.name
|
|
1086
|
-
}
|
|
1087
|
-
} else {
|
|
1088
|
-
return (
|
|
1089
|
-
"neither .altalleleinfo or .locusinfo is available from set " + set.name
|
|
1090
|
-
)
|
|
1091
|
-
}
|
|
1092
|
-
}
|
|
1093
|
-
}
|
|
1094
|
-
|
|
1095
|
-
export function contigNameNoChr(genome, chrlst) {
|
|
1096
|
-
/*
|
|
1097
|
-
FIXME hard-coded for human genome styled chromosome names
|
|
1098
|
-
*/
|
|
1099
|
-
for (const n in genome.majorchr) {
|
|
1100
|
-
if (chrlst.indexOf(n.replace("chr", "")) != -1) {
|
|
1101
|
-
return true
|
|
1102
|
-
}
|
|
1103
|
-
}
|
|
1104
|
-
if (genome.minorchr) {
|
|
1105
|
-
for (const n in genome.minorchr) {
|
|
1106
|
-
if (chrlst.indexOf(n.replace("chr", "")) != -1) {
|
|
1107
|
-
return true
|
|
1108
|
-
}
|
|
1109
|
-
}
|
|
1110
|
-
}
|
|
1111
|
-
return false
|
|
1112
|
-
}
|
|
1113
|
-
export function contigNameNoChr2(genome, chrlst) {
|
|
1114
|
-
// returns number of matching chr names that either includes "chr" or not
|
|
1115
|
-
// for detecting if chrlst entirely mismatch with what's in the genome build
|
|
1116
|
-
// TODO replace contigNameNoChr
|
|
1117
|
-
let nochrcount = 0,
|
|
1118
|
-
haschrcount = 0
|
|
1119
|
-
for (const n in genome.majorchr) {
|
|
1120
|
-
if (chrlst.includes(n)) {
|
|
1121
|
-
haschrcount++
|
|
1122
|
-
} else if (chrlst.includes(n.replace("chr", ""))) {
|
|
1123
|
-
nochrcount++
|
|
1124
|
-
}
|
|
1125
|
-
}
|
|
1126
|
-
if (genome.minorchr) {
|
|
1127
|
-
for (const n in genome.minorchr) {
|
|
1128
|
-
if (chrlst.includes(n)) {
|
|
1129
|
-
haschrcount++
|
|
1130
|
-
} else if (chrlst.includes(n.replace("chr", ""))) {
|
|
1131
|
-
nochrcount++
|
|
1132
|
-
}
|
|
1133
|
-
}
|
|
1134
|
-
}
|
|
1135
|
-
return [nochrcount, haschrcount]
|
|
1136
|
-
}
|
|
1137
|
-
|
|
1138
|
-
export function getMax_byiqr(lst, novaluemax) {
|
|
1139
|
-
/*
|
|
1140
|
-
lst: array of numbers
|
|
1141
|
-
novaluemax: when lst is empty, return this value
|
|
1142
|
-
cutoff value based on IQR to exclude outlier values
|
|
1143
|
-
*/
|
|
1144
|
-
if (lst.length == 0) return novaluemax
|
|
1145
|
-
lst.sort((i, j) => i - j)
|
|
1146
|
-
const max = lst[lst.length - 1]
|
|
1147
|
-
if (lst.length <= 5) return max
|
|
1148
|
-
const q1 = lst[Math.floor(lst.length / 4)]
|
|
1149
|
-
const q2 = lst[Math.floor((lst.length * 3) / 4)]
|
|
1150
|
-
return Math.min(q2 + (q2 - q1) * 1.5, max)
|
|
1151
|
-
}
|
|
1152
|
-
|
|
1153
|
-
export function alleleInGenotypeStr(genotype, allele) {
|
|
1154
|
-
if (!genotype) return false
|
|
1155
|
-
if (genotype.indexOf("/") != -1) {
|
|
1156
|
-
return genotype.split("/").indexOf(allele) != -1
|
|
1157
|
-
}
|
|
1158
|
-
return genotype.split("|").indexOf(allele) != -1
|
|
1159
|
-
}
|
|
1160
|
-
|
|
1161
|
-
export const gmmode = {
|
|
1162
|
-
genomic: "genomic",
|
|
1163
|
-
splicingrna: "splicing RNA", // if just 1 exon, use "RNA" as label
|
|
1164
|
-
exononly: "exon only",
|
|
1165
|
-
protein: "protein",
|
|
1166
|
-
gmsum: "aggregated exons",
|
|
1167
|
-
}
|
|
1168
|
-
|
|
1169
|
-
/*
|
|
1170
|
-
input:
|
|
1171
|
-
|
|
1172
|
-
m={}
|
|
1173
|
-
m.csq=[]
|
|
1174
|
-
element: {
|
|
1175
|
-
Allele: str,
|
|
1176
|
-
Consequence: str,
|
|
1177
|
-
CANONICAL: str, // true if _isoform is canonical
|
|
1178
|
-
...
|
|
1179
|
-
_isoform: str,
|
|
1180
|
-
_class: str,
|
|
1181
|
-
_csqrank: int
|
|
1182
|
-
}
|
|
1183
|
-
m.ann=[]
|
|
1184
|
-
annovar output. may be derelict
|
|
1185
|
-
block={}
|
|
1186
|
-
block.usegm={ isoform }
|
|
1187
|
-
can be a mock object when running this function in node!
|
|
1188
|
-
|
|
1189
|
-
does:
|
|
1190
|
-
find an annotation from m.csq[] that's fitting the circumstance
|
|
1191
|
-
- current gm isoform displayed in block gene mode
|
|
1192
|
-
- any canonical isoform from m.csq[] (can be missing if vep is not instructed to do it)
|
|
1193
|
-
- one with highest _csqrank
|
|
1194
|
-
then, copy its class/mname to m{}
|
|
1195
|
-
has many fall-back and always try to assign class/mname
|
|
1196
|
-
|
|
1197
|
-
no return
|
|
1198
|
-
*/
|
|
1199
|
-
export function vcfcopymclass(m, block) {
|
|
1200
|
-
if (m.csq) {
|
|
1201
|
-
let useone // point to the element of m.csq[], from this class/mname is copied to m{}
|
|
1202
|
-
|
|
1203
|
-
if (block.usegm) {
|
|
1204
|
-
// block is in gm mode, find a csq matching with the genemodel isoform
|
|
1205
|
-
useone = m.csq.find((i) => i._isoform == block.usegm.isoform)
|
|
1206
|
-
}
|
|
1207
|
-
|
|
1208
|
-
if (!useone) {
|
|
1209
|
-
// no match to usegm isoform; can be due to in genomic mode and zoomed out, where this variant is from a neighboring gene near block.usegm
|
|
1210
|
-
// find one using canonical isoform
|
|
1211
|
-
useone = m.csq.find((i) => i.CANONICAL)
|
|
1212
|
-
|
|
1213
|
-
if (!useone) {
|
|
1214
|
-
// none of the elements in m.csq[] is using a canonical isoform, as that's a vep optional output
|
|
1215
|
-
// last method: choose *colorful* annotation based on if is canonical, _csqrank
|
|
1216
|
-
useone = m.csq[0]
|
|
1217
|
-
for (const q of m.csq) {
|
|
1218
|
-
if (q._csqrank < useone._csqrank) {
|
|
1219
|
-
useone = q
|
|
1220
|
-
}
|
|
1221
|
-
}
|
|
1222
|
-
}
|
|
1223
|
-
}
|
|
1224
|
-
|
|
1225
|
-
if (useone) {
|
|
1226
|
-
m.gene = useone._gene
|
|
1227
|
-
m.isoform = useone._isoform
|
|
1228
|
-
m.class = useone._class
|
|
1229
|
-
m.dt = useone._dt
|
|
1230
|
-
m.mname = useone._mname
|
|
1231
|
-
|
|
1232
|
-
if (m.class == mclassnoncoding) {
|
|
1233
|
-
// noncoding converted from csq is not a meaningful, drab color, has no mname label, delete so later will be converted to non-protein class
|
|
1234
|
-
delete m.class
|
|
1235
|
-
}
|
|
1236
|
-
}
|
|
1237
|
-
} else if (m.ann) {
|
|
1238
|
-
// there could be many applicable annotations, the first one not always desirable
|
|
1239
|
-
// choose *colorful* annotation based on _csqrank
|
|
1240
|
-
let useone = null
|
|
1241
|
-
if (block.usegm) {
|
|
1242
|
-
for (const q of m.ann) {
|
|
1243
|
-
if (q._isoform != block.usegm.isoform) continue
|
|
1244
|
-
if (useone) {
|
|
1245
|
-
if (q._csqrank < useone._csqrank) {
|
|
1246
|
-
useone = q
|
|
1247
|
-
}
|
|
1248
|
-
} else {
|
|
1249
|
-
useone = q
|
|
1250
|
-
}
|
|
1251
|
-
}
|
|
1252
|
-
if (!useone && block.gmmode == gmmode.genomic) {
|
|
1253
|
-
// no match to this gene, but in genomic mode, maybe from other genes?
|
|
1254
|
-
useone = m.ann[0]
|
|
1255
|
-
}
|
|
1256
|
-
} else {
|
|
1257
|
-
useone = m.ann[0]
|
|
1258
|
-
for (const q of m.ann) {
|
|
1259
|
-
if (q._csqrank < useone._csqrank) {
|
|
1260
|
-
useone = q
|
|
1261
|
-
}
|
|
1262
|
-
}
|
|
1263
|
-
}
|
|
1264
|
-
if (useone) {
|
|
1265
|
-
m.gene = useone._gene
|
|
1266
|
-
m.isoform = useone._isoform
|
|
1267
|
-
m.class = useone._class
|
|
1268
|
-
m.dt = useone._dt
|
|
1269
|
-
m.mname = useone._mname
|
|
1270
|
-
|
|
1271
|
-
if (m.class == mclassnoncoding) {
|
|
1272
|
-
delete m.class
|
|
1273
|
-
}
|
|
1274
|
-
}
|
|
1275
|
-
}
|
|
1276
|
-
|
|
1277
|
-
if (m.class == undefined) {
|
|
1278
|
-
// infer class from m.type, which was assigned by vcf.js
|
|
1279
|
-
if (mclass[m.type]) {
|
|
1280
|
-
m.class = m.type
|
|
1281
|
-
m.dt = mclass[m.type].dt
|
|
1282
|
-
m.mname = m.id && m.id != "." ? m.id : m.ref + ">" + m.alt
|
|
1283
|
-
if (m.mname.length > 15) {
|
|
1284
|
-
// avoid long indel
|
|
1285
|
-
m.mname = m.type
|
|
1286
|
-
}
|
|
1287
|
-
} else {
|
|
1288
|
-
m.class = mclassnonstandard
|
|
1289
|
-
m.dt = dtsnvindel
|
|
1290
|
-
m.mname = m.type
|
|
1291
|
-
}
|
|
1292
|
-
}
|
|
1293
|
-
|
|
1294
|
-
delete m.type
|
|
1295
|
-
}
|
|
1296
|
-
|
|
1297
|
-
/*
|
|
1298
|
-
used in:
|
|
1299
|
-
mdssvcnv track, mutation attributes, items that are not annotated by an attribute for showing in legend, and server-side filtering
|
|
1300
|
-
*/
|
|
1301
|
-
export const not_annotated = "Unannotated"
|
|
1302
|
-
|
|
1303
|
-
// kernal density estimator as from https://www.d3-graph-gallery.com/graph/density_basic.html
|
|
1304
|
-
|
|
1305
|
-
export function kernelDensityEstimator(kernel, X) {
|
|
1306
|
-
return function (V) {
|
|
1307
|
-
return X.map((x) => {
|
|
1308
|
-
return [
|
|
1309
|
-
x,
|
|
1310
|
-
V.map((v) => kernel(x - v)).reduce((i, j) => i + j, 0) / V.length,
|
|
1311
|
-
]
|
|
1312
|
-
})
|
|
1313
|
-
}
|
|
1314
|
-
}
|
|
1315
|
-
|
|
1316
|
-
export function kernelEpanechnikov(k) {
|
|
1317
|
-
return function (v) {
|
|
1318
|
-
return Math.abs((v /= k)) <= 1 ? (0.75 * (1 - v * v)) / k : 0
|
|
1319
|
-
}
|
|
1320
|
-
}
|
|
1321
|
-
|
|
1322
|
-
/////////////////////// color sets /////////////////////////
|
|
1323
|
-
|
|
1324
|
-
export const schemeCategory20 = [
|
|
1325
|
-
"#1f77b4",
|
|
1326
|
-
"#aec7e8",
|
|
1327
|
-
"#ff7f0e",
|
|
1328
|
-
"#ffbb78",
|
|
1329
|
-
"#2ca02c",
|
|
1330
|
-
"#98df8a",
|
|
1331
|
-
"#d62728",
|
|
1332
|
-
"#ff9896",
|
|
1333
|
-
"#9467bd",
|
|
1334
|
-
"#c5b0d5",
|
|
1335
|
-
"#8c564b",
|
|
1336
|
-
"#c49c94",
|
|
1337
|
-
"#e377c2",
|
|
1338
|
-
"#f7b6d2",
|
|
1339
|
-
"#7f7f7f",
|
|
1340
|
-
"#c7c7c7",
|
|
1341
|
-
"#bcbd22",
|
|
1342
|
-
"#dbdb8d",
|
|
1343
|
-
"#17becf",
|
|
1344
|
-
"#9edae5",
|
|
1345
|
-
]
|
|
1346
|
-
export const schemeCategory2 = ["#e75480", "blue"]
|
|
1347
|
-
|
|
1348
|
-
export function getColorScheme(number) {
|
|
1349
|
-
if (number > 20) {
|
|
1350
|
-
const scheme = []
|
|
1351
|
-
for (let i = 0; i < number; i++)
|
|
1352
|
-
scheme.push(d3.interpolateRainbow(i / number))
|
|
1353
|
-
return scheme
|
|
1354
|
-
}
|
|
1355
|
-
if (number > 12) return schemeCategory20
|
|
1356
|
-
else if (number > 8) return d3.schemePaired
|
|
1357
|
-
else if (number > 2) return d3.schemeDark2
|
|
1358
|
-
else return schemeCategory2
|
|
1359
|
-
}
|
|
1360
|
-
export function getColors(number) {
|
|
1361
|
-
const scheme = getColorScheme(number)
|
|
1362
|
-
return d3scale.scaleOrdinal(scheme)
|
|
1363
|
-
}
|
|
1364
|
-
|
|
1365
|
-
// for now not using getColorScheme() for protein domains, because this color list have been in use since 2015...
|
|
1366
|
-
const proteinDomainColors = [
|
|
1367
|
-
"#8dd3c7",
|
|
1368
|
-
"#bebada",
|
|
1369
|
-
"#fb8072",
|
|
1370
|
-
"#80b1d3",
|
|
1371
|
-
"#E8E89E",
|
|
1372
|
-
"#a6d854",
|
|
1373
|
-
"#fdb462",
|
|
1374
|
-
"#ffd92f",
|
|
1375
|
-
"#e5c494",
|
|
1376
|
-
"#b3b3b3",
|
|
1377
|
-
]
|
|
1378
|
-
export function proteinDomainColorScale() {
|
|
1379
|
-
return d3scale.scaleOrdinal().range(proteinDomainColors)
|
|
1380
|
-
}
|
|
1381
|
-
|
|
1382
|
-
/////////////////////// end of color sets /////////////////////////
|
|
1383
|
-
|
|
1384
|
-
export const truncatingMutations = ["F", "N", "L", "P"]
|
|
1385
|
-
export const proteinChangingMutations = [
|
|
1386
|
-
"F",
|
|
1387
|
-
"N",
|
|
1388
|
-
"L",
|
|
1389
|
-
"P",
|
|
1390
|
-
"D",
|
|
1391
|
-
"I",
|
|
1392
|
-
"ProteinAltering",
|
|
1393
|
-
"M",
|
|
1394
|
-
]
|
|
1395
|
-
export const synonymousMutations = [
|
|
1396
|
-
"S",
|
|
1397
|
-
"Intron",
|
|
1398
|
-
"Utr3",
|
|
1399
|
-
"Utr5",
|
|
1400
|
-
"noncoding",
|
|
1401
|
-
"E",
|
|
1402
|
-
]
|
|
1403
|
-
export const mutationClasses = Object.values(mclass)
|
|
1404
|
-
.filter((m) => m.dt == dtsnvindel)
|
|
1405
|
-
.map((m) => m.key)
|
|
1406
|
-
export const CNVClasses = Object.values(mclass)
|
|
1407
|
-
.filter((m) => m.dt == dtcnv)
|
|
1408
|
-
.map((m) => m.key)
|
|
1409
|
-
|
|
1410
|
-
// dt terms used for filtering variants for geneVariant term
|
|
1411
|
-
const dtTerms_temp = [
|
|
1412
|
-
{
|
|
1413
|
-
id: "snvindel",
|
|
1414
|
-
query: "snvindel",
|
|
1415
|
-
name: dt2label[dtsnvindel],
|
|
1416
|
-
parent_id: null,
|
|
1417
|
-
isleaf: true,
|
|
1418
|
-
type: "dtsnvindel",
|
|
1419
|
-
dt: dtsnvindel,
|
|
1420
|
-
values: {},
|
|
1421
|
-
},
|
|
1422
|
-
{
|
|
1423
|
-
id: "cnv",
|
|
1424
|
-
query: "cnv",
|
|
1425
|
-
name: dt2label[dtcnv],
|
|
1426
|
-
parent_id: null,
|
|
1427
|
-
isleaf: true,
|
|
1428
|
-
type: "dtcnv",
|
|
1429
|
-
dt: dtcnv,
|
|
1430
|
-
values: {},
|
|
1431
|
-
},
|
|
1432
|
-
{
|
|
1433
|
-
id: "fusion",
|
|
1434
|
-
query: "svfusion",
|
|
1435
|
-
name: dt2label[dtfusionrna],
|
|
1436
|
-
parent_id: null,
|
|
1437
|
-
isleaf: true,
|
|
1438
|
-
type: "dtfusion",
|
|
1439
|
-
dt: dtfusionrna,
|
|
1440
|
-
values: {},
|
|
1441
|
-
},
|
|
1442
|
-
{
|
|
1443
|
-
id: "sv",
|
|
1444
|
-
query: "svfusion",
|
|
1445
|
-
name: dt2label[dtsv],
|
|
1446
|
-
parent_id: null,
|
|
1447
|
-
isleaf: true,
|
|
1448
|
-
type: "dtsv",
|
|
1449
|
-
dt: dtsv,
|
|
1450
|
-
values: {},
|
|
1451
|
-
},
|
|
1452
|
-
]
|
|
1453
|
-
// add origin annotations to dt terms
|
|
1454
|
-
const dtTerms_temp2 = []
|
|
1455
|
-
for (const dtTerm of dtTerms_temp) {
|
|
1456
|
-
dtTerm.name_noOrigin = dtTerm.name // for labeling groups in groupsetting
|
|
1457
|
-
dtTerms_temp2.push(dtTerm) // no origin
|
|
1458
|
-
for (const origin of ["somatic", "germline"]) {
|
|
1459
|
-
// add origins
|
|
1460
|
-
const addOrigin = {
|
|
1461
|
-
id: `${dtTerm.id}_${origin}`,
|
|
1462
|
-
name: `${dtTerm.name} (${origin})`,
|
|
1463
|
-
origin,
|
|
1464
|
-
}
|
|
1465
|
-
dtTerms_temp2.push(Object.assign({}, dtTerm, addOrigin))
|
|
1466
|
-
}
|
|
1467
|
-
}
|
|
1468
|
-
export const dtTerms = dtTerms_temp2
|
|
1469
|
-
|
|
1470
|
-
export const colorScaleMap = {
|
|
1471
|
-
blueWhiteRed: { domain: [0, 0.5, 1], range: ["blue", "white", "red"] },
|
|
1472
|
-
greenWhiteRed: { domain: [0, 0.5, 1], range: ["green", "white", "red"] },
|
|
1473
|
-
blueYellowRed: {
|
|
1474
|
-
domain: [0, 0.17, 0.33, 0.5, 0.67, 0.83, 1],
|
|
1475
|
-
range: [
|
|
1476
|
-
"#313695",
|
|
1477
|
-
"#649AC7",
|
|
1478
|
-
"#BCE1ED",
|
|
1479
|
-
"#FFFFBF",
|
|
1480
|
-
"#FDBE70",
|
|
1481
|
-
"#EA5839",
|
|
1482
|
-
"#A50026",
|
|
1483
|
-
],
|
|
1484
|
-
},
|
|
1485
|
-
greenBlackRed: {
|
|
1486
|
-
domain: [0, 0.17, 0.33, 0.5, 0.67, 0.83, 1],
|
|
1487
|
-
range: [
|
|
1488
|
-
"#00FF00",
|
|
1489
|
-
"#14E10C",
|
|
1490
|
-
"#1AAF10",
|
|
1491
|
-
"#000000",
|
|
1492
|
-
"#B01205",
|
|
1493
|
-
"#E20E03",
|
|
1494
|
-
"#FF0000",
|
|
1495
|
-
],
|
|
1496
|
-
},
|
|
1497
|
-
blueBlackYellow: {
|
|
1498
|
-
domain: [0, 0.17, 0.33, 0.5, 0.67, 0.83, 1],
|
|
1499
|
-
range: [
|
|
1500
|
-
"#0000FF",
|
|
1501
|
-
"#0000CC",
|
|
1502
|
-
"#000099",
|
|
1503
|
-
"#202020",
|
|
1504
|
-
"#999900",
|
|
1505
|
-
"#CCCC00",
|
|
1506
|
-
"#FFFF00",
|
|
1507
|
-
],
|
|
1508
|
-
},
|
|
1509
|
-
// when hierCluster z-score transformation is not performed, should use two-color scale
|
|
1510
|
-
whiteRed: { domain: [0, 1], range: ["white", "red"] },
|
|
1511
|
-
}
|
|
1512
|
-
|
|
1513
|
-
export function invalidcoord(thisgenome, chrom, start, stop) {
|
|
1514
|
-
if (!thisgenome) return "no genome"
|
|
1515
|
-
if (!chrom) return "no chr name"
|
|
1516
|
-
const chr = thisgenome.chrlookup[chrom.toUpperCase()]
|
|
1517
|
-
if (!chr) return "Invalid chromosome name: " + chr
|
|
1518
|
-
if (!Number.isInteger(start)) return "Non-numerical position: " + start
|
|
1519
|
-
if (start < 0 || start >= chr.len) return "Position out of range: " + start
|
|
1520
|
-
if (!Number.isInteger(stop)) return "Non-numerical position: " + stop
|
|
1521
|
-
if (stop < 0 || stop > chr.len) return "Position out of range: " + stop
|
|
1522
|
-
if (start > stop) return "Start position is greater than stop"
|
|
1523
|
-
return false
|
|
1524
|
-
}
|
|
1525
|
-
|
|
1526
|
-
export function string2pos(s, genome, donotextend) {
|
|
1527
|
-
s = s.replace(/,/g, "")
|
|
1528
|
-
const chr = genome.chrlookup[s.toUpperCase()]
|
|
1529
|
-
if (chr) {
|
|
1530
|
-
// chr name only, to middle
|
|
1531
|
-
return {
|
|
1532
|
-
chr: chr.name,
|
|
1533
|
-
chrlen: chr.len,
|
|
1534
|
-
start: Math.max(0, Math.ceil(chr.len / 2) - 10000),
|
|
1535
|
-
stop: Math.min(chr.len, Math.ceil(chr.len / 2) + 10000),
|
|
1536
|
-
}
|
|
1537
|
-
}
|
|
1538
|
-
{
|
|
1539
|
-
// special handling for snv4
|
|
1540
|
-
const tmp = s.split(".")
|
|
1541
|
-
if (tmp.length >= 2) {
|
|
1542
|
-
const chr = genome.chrlookup[tmp[0].toUpperCase()]
|
|
1543
|
-
const pos = Number.parseInt(tmp[1])
|
|
1544
|
-
const e = invalidcoord(genome, tmp[0], pos, pos + 1)
|
|
1545
|
-
if (!e) {
|
|
1546
|
-
// valid snv4
|
|
1547
|
-
const bpspan = 400
|
|
1548
|
-
return {
|
|
1549
|
-
chr: chr.name,
|
|
1550
|
-
chrlen: chr.len,
|
|
1551
|
-
start: Math.max(0, pos - Math.ceil(bpspan / 2)),
|
|
1552
|
-
stop: Math.min(chr.len, pos + Math.ceil(bpspan / 2)),
|
|
1553
|
-
actualposition: { position: pos, len: 1 },
|
|
1554
|
-
}
|
|
1555
|
-
}
|
|
1556
|
-
}
|
|
1557
|
-
}
|
|
1558
|
-
const tmp = s.split(/[-:\s]+/)
|
|
1559
|
-
if (tmp.length == 2) {
|
|
1560
|
-
// must be chr - pos
|
|
1561
|
-
const pos = Number.parseInt(tmp[1])
|
|
1562
|
-
const e = invalidcoord(genome, tmp[0], pos, pos + 1)
|
|
1563
|
-
if (e) {
|
|
1564
|
-
return null
|
|
1565
|
-
}
|
|
1566
|
-
const chr = genome.chrlookup[tmp[0].toUpperCase()]
|
|
1567
|
-
const bpspan = 400
|
|
1568
|
-
return {
|
|
1569
|
-
chr: chr.name,
|
|
1570
|
-
chrlen: chr.len,
|
|
1571
|
-
start: Math.max(0, pos - Math.ceil(bpspan / 2)),
|
|
1572
|
-
stop: Math.min(chr.len, pos + Math.ceil(bpspan / 2)),
|
|
1573
|
-
actualposition: { position: pos, len: 1 },
|
|
1574
|
-
}
|
|
1575
|
-
}
|
|
1576
|
-
if (tmp.length == 3) {
|
|
1577
|
-
// must be chr - start - stop
|
|
1578
|
-
let start = Number.parseInt(tmp[1]),
|
|
1579
|
-
stop = Number.parseInt(tmp[2])
|
|
1580
|
-
const e = invalidcoord(genome, tmp[0], start, stop)
|
|
1581
|
-
if (e) {
|
|
1582
|
-
return null
|
|
1583
|
-
}
|
|
1584
|
-
const actualposition = { position: start, len: stop - start }
|
|
1585
|
-
const chr = genome.chrlookup[tmp[0].toUpperCase()]
|
|
1586
|
-
|
|
1587
|
-
if (!donotextend) {
|
|
1588
|
-
const minspan = 400
|
|
1589
|
-
if (stop - start < minspan) {
|
|
1590
|
-
let center = Math.ceil((start + stop) / 2)
|
|
1591
|
-
if (center + minspan / 2 >= chr.len) {
|
|
1592
|
-
center = chr.len - Math.ceil(minspan / 2)
|
|
1593
|
-
}
|
|
1594
|
-
start = Math.max(0, center - Math.ceil(minspan / 2))
|
|
1595
|
-
stop = start + minspan
|
|
1596
|
-
}
|
|
1597
|
-
}
|
|
1598
|
-
|
|
1599
|
-
return {
|
|
1600
|
-
chr: chr.name,
|
|
1601
|
-
chrlen: chr.len,
|
|
1602
|
-
start,
|
|
1603
|
-
stop,
|
|
1604
|
-
actualposition,
|
|
1605
|
-
}
|
|
1606
|
-
}
|
|
1607
|
-
return null
|
|
1608
|
-
}
|