3d194de4d74f67c1a453035e20c4769d88bec4c4 lrnassar Mon Jul 13 12:52:57 2026 -0700 Order popEVE heatmap amino acid rows by class to match the MaveDB track. refs #37791 Change the heatmap row order from alphabetical to physicochemical-amino-acid-class order (A V L I M F Y W R H K D E S T N Q G C P), matching the MaveDB Experiments heatmap so the tracks can be compared row-for-row. Rebuilds popEve.bb; updates the makedoc, the AutoSql row label comment, and the description page. diff --git src/hg/makeDb/doc/hg38/popEve.txt src/hg/makeDb/doc/hg38/popEve.txt index 10d67bb13ef..e1cd8256d86 100644 --- src/hg/makeDb/doc/hg38/popEve.txt +++ src/hg/makeDb/doc/hg38/popEve.txt @@ -11,31 +11,32 @@ # coordinates plus INFO fields protein (RefSeq NP_), gene, mutant (e.g. E773D), # gap_frequency, popEVE, pop-adjusted_EVE, pop-adjusted_ESM1v, EVE, ESM1v. # Source size 1476124568 bytes, Last-Modified 2025-10-29. mkdir -p /hive/data/outside/popEve mkdir -p /hive/data/genomes/hg38/bed/popEve/sorttmp cd /hive/data/genomes/hg38/bed/popEve ln -s /hive/data/outside/popEve input cd /hive/data/outside/popEve wget -nv https://data.evemodel.org/popeve/v1.1/downloads/grch38_popEVE_ukbb_20250715.vcf.gz # The combined VCF is one position-sorted file with all proteins interleaved (overlapping # genes share positions), so records are grouped by protein on disk before conversion. # Each protein becomes one heatmap BED12+ entry: columns = amino acid positions at codon -# genomic coordinates, rows = 20 standard amino acids (A-Y). Multiple codon changes encoding +# genomic coordinates, rows = 20 standard amino acids ordered by class (A V L I M F Y W R H +# K D E S T N Q G C P), matching the MaveDB heatmap track. Multiple codon changes encoding # the same amino acid substitution carry identical popEVE scores and are deduplicated. # Wildtype cells are empty. popEVE lists only positions carrying a missense alt, so a codon # may have only 2 of its 3 genomic positions; block sizes are clamped (min(3, gap-to-next)) # so adjacent codon blocks cannot overlap, which keeps the file valid for bedToBigBed. # Strand is taken from NCBI RefSeq (the VCF has no strand field), cross-checked against the # strand inferred from genomic-vs-protein-position direction. # Color: global cross-gene gradient keyed to raw popEVE; interior anchors at the published # severe (-5.056) and moderate (-4.617) cutoffs and the proteome median (~-3.5); outer # saturation anchors at the 0.5th / 99.5th percentiles of the proteome-wide distribution. # Records with popEVE=nan (e.g. start-codon M1 variants) are skipped. cd /hive/data/genomes/hg38/bed/popEve # Full build (download already done): strand map, extract, color anchors, sort, convert, # filter to chrom.sizes, bigBed. See runBuild.sh in this directory. bash runBuild.sh @@ -58,22 +59,22 @@ # substitutions are scored; each heatmap column (codon) therefore has ~6-9 of 19 rows # filled. This is expected and sparser than the EVE track (which scores all 19). # - The heatmap renderer parses the score array (chopCommas, keeps trailing empty) and the # label array (chopByCharRespectDoubleQuotesKeepEmpty, drops one trailing empty) # differently. When the last cell (row Y, last column) is empty the counts disagree and # the track aborts; the converter sets a non-empty placeholder label on that one trailing # cell (its score stays empty so the cell is uncolored). trailingFix count below. # Build results: # records extracted: 66,400,085 (nan skipped: 15,156) # color anchors: loAnchor=-5.742 hiAnchor=-2.287 (popEVE p0.5 / p99.5; median -3.358) # proteins: 18,968 (18,343 distinct gene symbols; remainder are RefSeq isoforms) # amino-acid positions: 10,114,809; bases covered: 886,638,890 # strand: 0 inferred-vs-RefSeq mismatches; 25 proteins not in the RefSeq map (strand from # coordinate inference); 0 with no strand signal; 0 dropped by chrom.sizes filter -# trailingFix (trailing empty cell relabeled): 16,571 proteins +# trailingFix (trailing empty cell relabeled): 15,555 proteins # mouseover: HTML multi-line labels (<br>/<b>); component scores rounded to 3 dp; # missing/nan components shown as NA -# popEve.bb size: 1,593,137,151 bytes +# popEve.bb size: 1,592,586,266 bytes mkdir -p /gbdb/hg38/popEve ln -sf /hive/data/genomes/hg38/bed/popEve/popEve.bb /gbdb/hg38/popEve/popEve.bb