Fig. 3: Bulk RNA-Seq analysis of RP13- and RP13-Cas9-derived cells and organoids. | Nature Communications

Fig. 3: Bulk RNA-Seq analysis of RP13- and RP13-Cas9-derived cells and organoids.

From: PRPF8-mediated dysregulation of hBrr2 helicase disrupts human spliceosome kinetics and 5´-splice-site selection causing tissue-specific defects

Fig. 3

A Bar charts showing the higher number of DEGs in RP13-ROs and RPE cells; (B) GO enrichment analysis of genes downregulated and (C) upregulated in RP13-tissues, as determined using DESeq. Between 13 and 16 terms with the lowest adjusted p-values are displayed; (D) Density histogram showing the standard deviation of Percent Spliced In (PSI) values in RP13 and RP13-Cas9 derived cells and organoids, as measured using MAJIQ. Each data point was calculated using an f-test, but the overall p value in each graph between RP13 and RP13-Cas9 was obtained using an independent t test (E) Bar charts showing the higher number of differential ASEs as well as CSEs in RP13-ROs and RPE cells; (F) GO enrichment analysis of genes identified by rMATS as exhibiting differential exon usage. Fifteen terms with the lowest adjusted p-values are displayed. Abbreviations: BP – biological process, CC- cellular component, MF – molecular function, SE – skipped exon, RI -retained intron, MXE – mutually exclusive exons, A3SS – alternative 3’ splice site, A5SS – alternative 5’ splice site. B, C, and F) One-sided Fisher’s Exact Test with p-value adjustment for multiple comparisons (Benjamini & Hochberg) was carried out.

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