Fig. 3: The impact of pDGVs on protein function.
From: Common germline-somatic variant interactions in advanced urothelial cancer
a Phred-scaled CADD scores are higher for pDGVs (n = 53 variants) than randomly selected control variants (n = 1249 variants), two-tailed Wilcoxon signed-rank test. The lower and upper edge of the box indicate the 25th and 75th percentiles. The black line in the center of the box indicates the median value; the lower and upper whiskers indicate 1.5 x the interquartile range b Bubble plot represents pDGV-somatic variant clusters for each gene. Circle diameters represent cluster sizes. The intra-cluster distances between amino acid positions are represented on the x-axis. -log10 p-values are represented as shades of red. c Lollipop plots showing the clustering of pDGVs, and somatic variants in XPA, EPHB6, TRIM32, and KLK6 projected on their 3D protein structures. The truncated segment of each protein is shaded in gray. The boundary of the affected domain is delineated with a dashed line. WCM-UC pDGVs are colored in red, and known somatic variants are colored in blue. Source data are provided as a Source Data file.
