Fig. 3: Effect on splicing of intronic NIPBL variant: NIPBL (NM_133433.3): c.64 + 6T > C.
From: Cracking rare disorders: a new minimally invasive RNA-seq protocol
A Zoomed in IGV plot of exome data showing the heterozygous +6 intronic variant downstream of exon 2. B Sanger profile with background noise, skip of exon 2 is suggestive but difficult to interpret due to the background noise. C Sashimi plot of exons 2–3 of NIPBL 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 2 can be observed in both the untreated and CHX-treated PBMCs. D Schematic representation of the splicing effect(s) caused by the variant. The exon skip was observed in 14% and 15% of the splicing events starting from the exon 1 donor site in the untreated and CHX-treated PBMCs.
