Fig. 6. Validation of relatively common IRAVs implicated in genetic disorders.
a Relative ratios of corresponding intron retention for samples with (orange) and without (gray) the IRAVs across tissues measured using GTEx transcriptome data. The p-values measuring the differences of the intron retention ratios between samples with and without IRAVs via the one-sided Wilcoxon rank-sum test for each tissue and integration by Fisher’s method were 1.82 × 10−42, 2.91 × 10−7, and 1.22 × 10−69, respectively from the left panel to the right. b In vitro splicing analyses using wildtype (WT) or mutant (Mut) minigene constructs (left) showing intron retention introduced by IRAVs at P3H1 intron 9 and SMAD4 intron 3. The experimental results were confirmed by three independent biological replicates, and representative results were shown.