Fig. 7
From: Deciphering the impact of genetic variation on human polyadenylation using APARENT2
Large-scale analysis of polyadenylation signal mutations and their implication in health and disease. A Relative position of mutation vs predicted \(\Delta\) isoform abundance for all PAS variants in gnomAD (n = 2.8 million). Color intensity represents allele frequency. Inset: Reference vs alternate isoform abundance for all 43.8 million potential PAS SNVs (orange = gnomAD variants). B Distribution of predicted \(\Delta\) isoform abundance for common gnomAD variants (AF \({>}0.1\%\); green) and singletons (magenta). C Relative enrichment of disruptive variants (\({\Delta }\)isoform abundance \(< -0.15\)) with respect to singleton variants. Wilcoxon p-values are shown above each bar. D Absolute predicted isoform fold change vs p-value of fine-mapped GWAS SNPs from CAUSALdb (\(95\%\) credible set, n = 4200) [70]. E Distribution of predicted log odds ratios for the F2 PAS. F Distribution of predicted log odds ratios for the SCAF8 PAS. G Predicted log odds ratios among ASD cases and controls from a WGS study [51]