Fig. 5: MBNL proteins directly regulate Ank2 miE splicing.
a, The number and percentage of AS event types significantly mis-spliced in Mbnl DKD CAD cells (n = 3). b, ASD-risk gene set enrichment analysis for mis-spliced genes in Mbnl DKD cells. c, MBNL-binding motif enrichment in mis-spliced ASD-risk genes. d, miE enrichment analysis for mis-spliced ASD-risk gene sets. e, Ank2 miE mis-splicing in Mbnl DKD RNA-seq. f, MBNL2-CLIP-seq reads (orange boxes, combined n = 3 females) in the Ank2 miE downstream intron containing three conserved (magenta) and one suboptimal (black) motifs. g, Schematic of limited heterologous Atp2a1 splicing minigenes and regulation by MBNL proteins. MBNL-binding sequences (magenta) identified in mouse Ank2 and human ANK2 and their mutants (blue). h, Heterologous Atp2a1 splicing minigene regulation by MBNL proteins in HeLa cells (n = 4). Unpaired two-tailed t-test: ****P < 0.0001. Data are presented as mean ± s.d. (e,h). Diamonds represent OR (b–d). Error bars depict 95% confidence intervals. #FDR ≤ 0.10, *FDR < 0.05, **FDR < 0.01, ***FDR < 0.001, ****FDR < 0.0001.
