Fig. 7: Effect on splicing of exonic SETD1A variant: SETD1A (NM_014712.2): c.639G > A, p.(Thr213 = ).
From: Cracking rare disorders: a new minimally invasive RNA-seq protocol
A Zoomed in IGV plot of exome data showing the heterozygous c.639G > A in exon 5. B Sanger's profile is indicative of exon 5 skip. C Sashimi plot of exons 4–6 of SETD1A in untreated and treated PBMCs of the affected individual (red = untreated (UNT) and blue = CHX treated (CHX)) and a control PBMC sample, both untreated (green) and CHX treated (brown). The skipping of exon 5 can clearly be observed in both the untreated and CHX-treated PBMCs. In addition, intron 5 retention can be observed. D Schematic representation of the splicing effects caused by the variant. The exon 5 skip effect was observed in 27% and 33% of the splicing events starting from the exon 4 donor site in the untreated and CHX-treated PBMCs, respectively. A cryptic splice donor was also observed, resulting in intron retention in 8% and 20% of the splicing events starting from exon 6 in untreated cells and cells treated with CHX.
