Figure 2.

Gene ontology and Ingenuity pathway analysis of aberrantly spliced genes in SFmut MDS. (A) Venn diagram showing the overlap of significant GOs identified in SF3B1, SRSF2, and U2AF1 mutant MDS, and visualization of the significant BP GO terms common to all splicing factor mutant MDS using a REVIGO treemap. REVIGO panel sizes are inversely proportional to enrichment P values. (B-D) Ranked heat maps, as determined by collective significance across all splicing factor mutation groups, showing the significant dysregulated pathways (B), top 10 transcriptional regulators (C), and top 6 drug/chemical gene sets (D) in SF3B1, SRSF2, and U2AF1 mutant MDS. Only heat map tiles with a -log10pvalue > 1.3 (P value < .05) are shown. Within each heat map, dysregulated pathways, transcriptional regulators and drug/chemical names are ranked by the lowest P-value identified in the SFmut group.