9f9a96ab068a76799311c09a2813b0b28f8e7712 lrnassar Mon Jul 13 12:52:41 2026 -0700 Order EVE heatmap amino acid rows by class to match the MaveDB track. refs #37763 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 eve.bb; updates the makedoc, the AutoSql row label comment, and the description page. diff --git src/hg/makeDb/doc/hg38/eve.txt src/hg/makeDb/doc/hg38/eve.txt index a636bb9329a..cc22efaa13d 100644 --- src/hg/makeDb/doc/hg38/eve.txt +++ src/hg/makeDb/doc/hg38/eve.txt @@ -1,44 +1,45 @@ # [Claude/max] EVE - Evolutionary model of Variant Effect (2025-05-28) # Data downloaded from https://evemodel.org/download/bulk as EVE_all_data.zip. # Reference: Frazer et al. (2021) Nature 599:91-95, PMID 34707284. # https://doi.org/10.1038/s41586-021-04043-8 mkdir -p /hive/data/genomes/hg38/bed/eve/input cd /hive/data/genomes/hg38/bed/eve/input wget https://evemodel.org/download/bulk -O EVE_all_data.zip unzip EVE_all_data.zip # This extracts, among other things, vcf_files_missense_mutations/ with one VCF per protein. # Convert VCF files to heatmap bigBed format. # Each protein becomes one BED12+ entry. Columns = amino acid positions (at codon -# genomic coordinates), rows = 20 standard amino acids (A-Y). +# 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 are deduplicated # (they carry identical EVE scores). Wildtype cells are left empty. # Colors: blue (#2166ac) EVE=0 benign, white (#f7f7f7) EVE=0.5 uncertain, # red (#d6604d) EVE=1 pathogenic. cd /hive/data/genomes/hg38/bed/eve python3 ~/kent/src/hg/makeDb/scripts/eve/vcfToEveHeatmap.py \ input/vcf_files_missense_mutations/ \ eve_raw.bed # Two proteins had VCF coordinates on non-standard assembly scaffolds # (G6PT1/O43826 on chrCHR_HG2217_PATCH, MAFIP/Q8WZ33 on chrGL000194.1) # and were removed by filtering to chromosomes present in chrom.sizes. bedSort eve_raw.bed eve_sorted.bed awk 'NR==FNR{valid[$1]=1; next} $1 in valid {print}' \ /hive/data/genomes/hg38/chrom.sizes \ eve_sorted.bed > eve_filtered.bed bedToBigBed -type=bed12+ -tab \ -as=~/kent/src/hg/makeDb/scripts/eve/eve_heatmap.as \ eve_filtered.bed \ /hive/data/genomes/hg38/chrom.sizes \ eve.bb # Result: 2,949 proteins, 1,717,072 total amino acid positions. mkdir -p /gbdb/hg38/eve ln -s /hive/data/genomes/hg38/bed/eve/eve.bb /gbdb/hg38/eve/eve.bb