Figure 2.
Integrative gene expression, alternative splicing, and transcript usage analyses categorize gene targets of mutant SF3B1. (A) PCA plots based on gene expression of the 3000 most highly variable genes color-coded by SF3B1 mutation status and sign-coded by patient ID. (B) Heatmap showing distance of the indicated iPSC-HSPCs based on pairwise Pearson correlation of their gene expression profiles, color-coded by SF3B1 mutation status and patient ID. (C) PCA plot based on inclusion levels of the differentially spliced events between SF3B1K700E and SF3B1WT iPSC-HSPCs. (D) Scatterplots comparing the mean inclusion levels of the differentially spliced events in SF3B1K700E vs SF3B1WT iPSC-HSPCs with different event types broken down by color, as indicated. (E) Schematic summarizing the integrative analysis used to derive a mutant SF3B1 signature of splicing events and genes and scatterplot showing inclusion level difference of all 59 signature splicing events, corresponding to 34 genes. A positive y axis value indicates that the event is more frequently found in SF3B1K700E vs SF3B1WT cells.