Fig. 4: Effect on splicing of intronic STAG1 variant: STAG1 (NM_005862.2): c.395-2A > T.
From: Cracking rare disorders: a new minimally invasive RNA-seq protocol
A Zoomed in IGV plot of exome data showing the heterozygous-2 intronic variant upstream of exon 6. B Sanger profile showing the heterozygous exon 6 skip. C Sashimi plot of exons 5–7 of STAG1 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 6 can clearly be observed in both the untreated and CHX-treated PBMCs. D Schematic representation of the splicing effect caused by the variant. While the effect was observed in 31% of the splicing events from the exon 5 donor site in the untreated PBMCs, the aberrant splicing was observed in approximately 44% of the splicing events at that site, in the CHX-treated PBMCs.
