Cancer-associated genes are misspliced in sf3b1-mutant erythroid progenitors. (A) Schematic of the different splicing events detected by analysis with rMATS. The numbers in the parentheses (n1:n2) indicate the number of significant events that have higher inclusion level for sibling (n1) or for mutant (n2). (B) Volcano plot of differential splicing events between gata1:eGFP⁺ cells from sf3b1 mutants and siblings. Significant differences are defined as FDR ≤0.01 and Δψ > |0.1|. Gray lines denote the Δψ threshold. (C) Venn diagrams showing overlap of misspliced transcripts with differentially expressed genes. Probability of overlap calculated by hypergeometric distribution. (D) Representative charts of significantly altered KEGG pathways in misspliced transcripts in sf3b1-mutant erythrocytes compared with sibling controls as determined by mSigDB analysis. DEG, differentially expressed genes; psi, percent spliced in; ss, splice site.