Distinct splicing signatures affect converged pathways in myelodysplastic syndrome patients carrying mutations in different splicing regulators

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.