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/trackDb/human/popEve.html src/hg/makeDb/trackDb/human/popEve.html index 0cca151b73c..473d820640a 100644 --- src/hg/makeDb/trackDb/human/popEve.html +++ src/hg/makeDb/trackDb/human/popEve.html @@ -4,31 +4,32 @@ of the variants observed in human populations, yet most have no established clinical significance. popEVE places missense variants on a single, proteome-wide spectrum of deleteriousness, so that variants in different genes can be compared directly. It is a deep generative model that combines cross-species evolutionary scores with human population variation: scores from EVE (an evolutionary variational autoencoder) and the ESM-1v protein language model are calibrated against allele observations in the UK Biobank using a Gaussian process, yielding a continuous, human-specific measure of variant impact. This track shows popEVE scores for single-nucleotide missense substitutions across roughly 18,000 human proteins.

Display Conventions

Each entry spans one protein at its genomic locus. The heatmap columns correspond to individual amino acid positions in the protein, placed at the codon's genomic coordinate. -The rows correspond to the 20 standard amino acids (A–Y, alphabetical). Each cell +The rows correspond to the 20 standard amino acids, ordered by amino acid class to match +the MaveDB track. Each cell shows the popEVE score for substituting the wildtype amino acid at that position with the row amino acid. Because popEVE is distributed as a list of genomic single-nucleotide variants, only amino acid substitutions reachable by a single-nucleotide change are scored; cells for substitutions requiring more than one nucleotide change, for the wildtype amino acid, or for positions without a score (for example start codons) are left empty.

Unlike per-gene scores, popEVE is calibrated across the whole proteome, so cells are colored on a single global gradient keyed to the raw popEVE score (lower, more negative scores are more deleterious). The color is interpolated between the five anchors below: the published severe and moderate thresholds are fixed anchors, and the extremes saturate at the 0.5th and 99.5th percentiles of the proteome-wide score distribution.