Figure 4.

Experimental confirmation of target splice junction from ES. (a) Sashimi plot for the experimentally confirmed splice junction chr20:62606885–62608324:- from an ES event that was predicted as a target. The target splice junctions may be caused by a SNV that changes C to A on the negative strand, resulting in a disruption of an acceptor motif in the cDNA. (b) The RNA expression of 21 splice junctions from ES events were analyzed with qRT-PCR. Heatmap showing MMSplice and SpliceAI score, the number of junction reads, whether a junction was found by an RNA-seq tool (Leafcutter/Spladder) and whether junctions were predicted as targets.