bf62c01cee8dc176445aa131e2fd6ea847a4eb68 lrnassar Thu May 28 11:32:52 2026 -0700 Adding UMD TP53 variant track (umdTp53) on hg19 and hg38 under a new Locus-Specific superTrack. refs #37648 Shows variants from the UMD TP53 database (p53.fr, Soussi & Leroy) as a bigBed 9+, one row per unique TP53 variant. Coloured by curator pathogenicity classification. Filters: pathogenicity, variantClassification, variantType, tumor frequency. Search by HGVS cDNA name and canonical protein change via extraIndex + trix. Linkouts to COSMIC and dbSNP. Otto pipeline polls p53.fr weekly; rebuilds only when the upstream zips actually change. Cron-silent on no-op so unchanged weeks don't email. Adds src/hg/utils/otto/umdTp53/ (build scripts + parser + .as schema), src/hg/makeDb/trackDb/human/umdTp53.ra (track stanza), src/hg/makeDb/trackDb/human/umdTp53.html (description page), src/hg/makeDb/trackDb/human/locusSpec.ra (shared superTrack definition). Includes locusSpec.ra and umdTp53.ra from human/trackDb.ra (alpha-gated). Adds include of ../locusSpec.ra to human/hs1/trackDb.ra so the strict trackDb checker resolves the parent in the same include chain as the existing mucins children. Drops the redundant locusSpec stanza from human/mucins.ra now that it lives in its own file. diff --git src/hg/utils/otto/umdTp53/umdTp53.as src/hg/utils/otto/umdTp53/umdTp53.as new file mode 100644 index 00000000000..67bfc6700f9 --- /dev/null +++ src/hg/utils/otto/umdTp53/umdTp53.as @@ -0,0 +1,56 @@ +table umdTp53 +"UMD TP53 Variant Database (p53.fr) — one row per unique TP53 variant" + ( + string chrom; "Chromosome" + uint chromStart; "Start position" + uint chromEnd; "End position" + string name; "HGVS cDNA nomenclature (NM_000546.5)" + uint score; "Unused" + char[1] strand; "Strand (TP53 is on minus strand)" + uint thickStart; "Display thick start" + uint thickEnd; "Display thick end" + uint reserved; "RGB color reflecting pathogenicity" + lstring cDnaFull; "Full HGVS cDNA nomenclature (when the displayed name was shortened)" + string proteinChange; "Protein change on canonical TP53 alpha (NP_000537.3)" + string pathogenicity; "Curator pathogenicity classification" + string variantClassification; "Effect class (Missense / Nonsense / Synonymous / Frameshift / Splice / ...)" + string variantType; "Variant type (SNP / DEL / INS / DNP / TNP / ONP)" + string domain; "TP53 protein domain" + string structure; "Structural motif (Cho et al. 1994)" + string ptm; "Post-translational modification site, if any" + string umdId; "UMD database identifier" + string cosmicId; "COSMIC mutation ID" + string snpId; "dbSNP rs ID" + lstring activityComment; "Residual transactivation activity summary (Kato et al. 8-promoter assay)" + string waf1Pct; "WAF1 promoter activity (% of WT)" + string mdm2Pct; "MDM2 promoter activity (% of WT)" + string baxPct; "BAX promoter activity (% of WT)" + string p14333sPct; "14-3-3-sigma promoter activity (% of WT)" + string aipPct; "AIP promoter activity (% of WT)" + string gadd45Pct; "GADD45 promoter activity (% of WT)" + string noxaPct; "NOXA promoter activity (% of WT)" + string p53r2Pct; "p53R2 promoter activity (% of WT)" + float tumorFreq; "Frequency in tumors (%)" + string cellLineFreq; "Frequency in cell lines (%)" + string somaticFreq; "Frequency among somatic cases (%)" + string germlineFreq; "Frequency among germline cases (%)" + uint recordsNumber; "Total occurrences in the database" + string siftScore; "SIFT score" + string siftPrediction; "SIFT prediction" + string polyphenHumVar; "Polyphen-2 HumVar prediction" + string polyphenHumDiv; "Polyphen-2 HumDiv prediction" + string mutAssessorScore; "MutationAssessor score" + string mutAssessorPrediction; "MutationAssessor prediction" + string proveanScore; "PROVEAN score" + string proveanPrediction; "PROVEAN prediction" + string condel; "Condel prediction" + string condelScore; "Condel score" + string mutpredSpliceScore; "MutPred Splice general score" + string mutpredSplicePrediction; "MutPred Splice prediction label" + lstring mutpredSpliceHypotheses; "MutPred Splice confident hypotheses" + lstring commentFrequency; "Curator note on variant frequency" + lstring commentOutliers; "Curator note on outlier publications" + lstring commentSplicing; "Curator note on splicing" + lstring finalComment; "Curator final summary" + lstring _mouseOver; "Pre-built hover text" + )