Fig. 6
From: Deciphering the impact of genetic variation on human polyadenylation using APARENT2
Extending aQTL predictions to the entire 3′ UTR. A The total impact of a 3′ UTR mutation on isoform abundance is scored by APARENT2 and Saluki. B Absolute value of predicted vs measured 3′ aQTL effect sizes for lead SNPs and a matched set of non-lead SNPs overlapping PASs in the lung (GTEx v7). Final predictions are made by isotonic regression trained on all non-lung SNPs. C Top: Predicted vs measured aQTL effect size Spearman r’s for SNPs overlapping PASs. Each dot represents the correlation in a given tissue. Bottom: Predicted vs measured effect sizes for all 3′ UTR SNPs, using the joint APARENT2+Saluki model. D Difference in ISM maps between mutant and wildtype sequence (rs540). Green/magenta annotations correspond to APARENT2/Saluki predictions