971ae4b10f79d994d419c94d932e5b9163b72098 gperez2 Tue Dec 2 10:39:58 2025 -0800 Updating the Display Conventions and Configuration section for gnomAD MPC, refs #36531 diff --git src/hg/makeDb/trackDb/human/hg19/gnomadMpc.html src/hg/makeDb/trackDb/human/hg19/gnomadMpc.html index aa07dfe5e08..44881937e1a 100644 --- src/hg/makeDb/trackDb/human/hg19/gnomadMpc.html +++ src/hg/makeDb/trackDb/human/hg19/gnomadMpc.html @@ -1,39 +1,37 @@

Description

The ${longLabel} track shows a score that tries to identify missense-depleted regions using the patterns of rare missense variation in 125,748 gnomAD v2.1.1 exomes, compared to a null mutational model. Missense-depleted regions are enriched for ClinVar pathogenic variants, de novo missense variants in individuals with neurodevelopmental disorders (NDDs), and complex trait heritability. The score's publication suggests that regions with less than 20% of their expected missense variation achieve moderate support for pathogenicity according to ACMG criteria.

Display Conventions and Configuration

-Transcripts with constraint predictions are highlighted. Observed and expected -number of missense mutations are shown on mouse overs, as well as their -Observed/expected ratio (OE), and the Chi-square and P-value of the ratio. -Regions are colored using the viridis palette, with yellow for the lowest OE -values and dark blue for the highest values. +Transcripts with constraint predictions are colored with the viridis palette, where yellow +indicates the lowest OE values and dark blue-purple indicates the highest.

OE Constraint Legend
-Yellow = strongest constraint, Purple = weakest

- +Yellow = strongest constraint
+Purple = weakest constraint +

@@ -43,30 +41,35 @@
Color OE Range
OE = 0.0066884
OE = 0.36229 OE = 0.66993
OE = 0.93385
OE = 2.2429
+

Mouseovers on an item show the observed and expected number of missense mutations, the +observed/expected (OE) ratio, and the associated Chi-square statistic and P-value. +

+ +

Methods

The study analyzed only canonical, coding transcripts as defined by GENCODE v19/Ensembl v74. Some were excluded: transcripts that had outlier counts of variants expected under neutrality (zero expected pLoF, missense, or synonymous variants; too many observed pLoF, missense, or synonymous variants compared to expectation; or too few observed synonymous variants compared to expectation). In total, the study analyzed 18,629 transcripts.

125,748 gnomAD v2.1.1 exomes were used on hg19. Median coverage was calculated on a random subset of the gnomAD exomes. The set of sites with possible missense variants was described using a synthetic Hail Table (HT) containing all possible single nucleotide variants in the exome. Ensembl VEP annotated this HT against GENCODE version 19, and filtered to variants with the consequence "missense_variant" in the canonical, coding