de2ccf6d827865f11d3c8edd9ceeb1b6394a7380 lrnassar Tue Apr 21 18:22:59 2026 -0700 PrimateAI-3D: label items by nucleotide change, add aaChange field and HTML mouseover. Variant analysts typically work at the nucleotide level, and the current item label (amino acid change) collapses distinguishable variants: ~17% of items share their (chrom, pos, AA-change) tuple with another item because of codon degeneracy (e.g. three C>A, C>G, C>T at the same position can all appear as "M>I"). Labeling by nucleotide change makes every item uniquely distinguishable (0.0% collisions on hg38, 0.1% on hg19 from overlapping transcripts). - primateAi.as: field 4 (name) is now "Nucleotide change (e.g. T>C)"; new field aaChange (placed before ref/alt) holds the amino acid change. - primateAiToBigBed.py: write name = "{ref}>{alt}", new aaChange column, and an HTML mouseover with terse labels (Var/AA/Score/Perc/Pred) and a colored prediction string. - primateAi.ra: add labelFields name,aaChange and defaultLabelFields name so users can toggle the on-feature label between nt change (default) and AA change. - primateAi.html: expand Display Conventions with the label-convention rationale and a legend for each mouseover field. refs #37274 diff --git src/hg/makeDb/trackDb/human/primateAi.ra src/hg/makeDb/trackDb/human/primateAi.ra index 0c5a835abd4..46b4e7547eb 100644 --- src/hg/makeDb/trackDb/human/primateAi.ra +++ src/hg/makeDb/trackDb/human/primateAi.ra @@ -1,24 +1,26 @@ track primateAi shortLabel PrimateAI-3D longLabel PrimateAI-3D Pathogenicity Predictions for Missense Variants type bigBed 9 + parent predictionScoresSuper bigDataUrl /gbdb/$D/primateAi/primateAi.bb itemRgb on visibility dense tableBrowser off scoreFilter 0 scoreFilterLimits 0:1000 mouseOverField _mouseOver filterValues.prediction benign|Benign,pathogenic|Pathogenic filterLabel.prediction Prediction filter.percentile 0 filterLimits.percentile 0:1 filterByRange.percentile on filterLabel.percentile Percentile score filter.scorePAI3D 0 filterLimits.scorePAI3D 0:1 filterByRange.scorePAI3D on filterLabel.scorePAI3D PrimateAI-3D raw score (clinical threshold 0.821) +labelFields name,aaChange +defaultLabelFields name maxWindowToDraw 2000000 urls gene="https://www.ensembl.org/Homo_sapiens/Transcript/Summary?t=$$" refSeq="https://www.ncbi.nlm.nih.gov/nuccore/$$"