FIGURE 5.
Splicing factor mutations in MDS affect distinct splicing programs, but the affected genes converge in similar dysregulated pathways. (A) Unsupervised hierarchical clustering using the SRSF2 mutation-related splicing program. (B) Unsupervised hierarchical clustering using the U2AF1 mutation-related splicing program. (C) Unsupervised hierarchical clustering using the SF3B1 mutation-related splicing program. (D) Venn-diagram of regression model-identified splicing programs associated with SRSF2, U2AF1, and SF3B1 mutations, and their relationships. (E) The overlap of SRSF2, U2AF1, and SF3B1 mutation-related programs with the MDS-Dx panel. No SF mut: Samples without SRSF2, U2AF1, SF3B1, or ZRSR2 mutations.