Figure 3.

Events of the mutant SF3B1 splicing signature. Heatmap showing the row normalized inclusion levels of the 59 signature events across HSPCs from all iPSC lines. For each row, color-coded side panels present metadata relevant to each event, including the log₂fc of expression of the respective genes, the biotypes of the up- and downregulated transcripts that are associated with the splicing events, and the presence of the events in the MDS patient dataset of Pellagatti et al,⁹ encoded as not present (signature events not present in any comparison); present but not significant (signature events that were not statistically significant or/and had an absolute inclusion level difference < 0.1 in both comparisons [SF3B1mut vs SF-WT and SF3B1mut vs WT, ie, healthy individuals]); present only in SF3B1mut vs SF-WT (signature events statistically significant [FDR < 0.05] and with an absolute inclusion level difference > 0.1 only in the SF3B1mut vs SF-WT MDS patient comparison); and present in SF3B1mut vs SF-WT and SF3B1mut vs WT (signature events statistically significant [FDR < 0.05] and with an absolute inclusion level difference > 0.1 in both comparisons). The annotations of the transcript biotypes are derived from the Ensembl GRCh37 gtf annotation file. Each row represents one event labeled with the respective gene name followed by a number indicating distinct events.