Alternative splicing events in HSPCs. (A) Number of genes that were differentially alternatively spliced in each HSPC subset. Pie charts illustrate the percentages of 5 types of splicing events. SE, skipped exon; RI, retained intron; MXE, mutually exclusive exons; A5SS, alternative 5′ splicing site; A3SS, alternative 3′ splicing site. (B) Representative display of differential OS9 exon usage in AA compared with control (Ctrl). Pie charts demonstrate the ratio of exon-exclusion isoform (blue, isoform#1) to exon-inclusion isoform (white, isoform#2). Bulk indicates the aggregation of single-cell data. (C) Percentage of different types of splicing events associated with up- or downregulated genes in AA. (D) Heat-map showing the top 20 enriched terms of differentially alternatively spliced genes in HSPCs. Colors indicate logarithmic transformed adjusted P values (Benjamini-Hochberg correction). (E) Enriched terms of differentially alternatively spliced genes between each patient with AA (n = 6) and 3 healthy controls based on bulk RNA-seq. Dot sizes represent enrichment scores and dot colors represent logarithmic transformed adjusted P values (Benjamini-Hochberg correction). (F) Venn diagram showing the overlap of differentially alternatively spliced genes in AA and MDS compared with Ctrl in aggregated HSPCs. Top 4 enriched GO terms ranked by P values (hypergeometric test) are shown for each gene set. Representative display of shared skipped exon events for DNA repair-associated genes in AA (G) and MDS (H) of aggregated HSPCs.