Fig. 7: Whole-transcriptome analysis of splicing in the retina of WT and Gpatch11Δ5/Δ5 mice.
From: GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment
a Chart generated from rMATS analysis, illustrating that the majority of splicing events correspond to skipped exons. A5SS and A3SS represent alternative 5′ and 3′ splice sites, MXE indicates mutually exclusive exons, RI stands for retained introns, and SE denotes skipped exons. b Venn diagrams comparing differentially expressed genes (DEGs) and differentially spliced genes (DSGs) in Gpatch11Δ5/Δ5 as compared to wild-type (WT) retina samples, with a total of 12 dysregulated and mis-spliced transcripts. c Heatmaps depicting the expression levels of the 12 dysregulated and mis-spliced transcripts. Blue indicates low expression, while orange represents high expression. d Sashimi plots illustrating the alternate splicing event for Arr3 in retina samples from Gpatch11Δ5/Δ5 (red) and wild-type (WT, blue) mice. Orange highlights the alternative splicing events with numbers indicating the junction read count for each event. The raw data can be accessed via BioStudies and the identifier S-BSST1157. e Electrophoresis of Arr3 cDNA and (f) Western blot analysis and ARR3 protein relative to β-Catenin in wild-type (WT) and Gpatch11Δ5/Δ5 retina samples. Blots are representative of three independent experiments. Source data are provided as a Source Data file.
