Fig. 2: USP9X-female missense variants display in silico signatures of pathogenicity.
From: Missense variant contribution to USP9X-female syndrome
a Aggregate comparison of common variants extracted from gnomAD (allele frequency >1:100000), against females missense variants, likely pathogenic male missense variants, and variants found in cancer (extracted from COSMIC database) using a suite of in silico prediction tools. Box-whisker plots are defined as follows: centre line, median; box limits, upper and lower quartiles; whiskers, min and max values. *significantly different from common variants p < 0.05 by two-tailed equal variance Student’s t-test. b Comparison of CADD and PROVEAN scores reveal clustering of variants all female missense variants in the upper-right quadrant consistent with pathogenicity (CADD > 25, PROVEAN > 0.565). Scores of common variants are significantly correlated (Pearson’s correlation given). Colour scheme as in a. Inset identifies each variant in the ‘pathogenic quadrant’. Graphs show percent of each type of variant, and the overall composition of variant types within the pathogenic quadrant.
