Fig. 2
From: Identification of UBA7 expression downregulation in myelodysplastic neoplasm with SF3B1 mutations
Splicing event distribution and pathway enrichment analysis in SF3B1-mutant MDS. (A) Bar plot depicting the distribution of alternative splicing (AS) event types identified in SF3B1-mutant MDS samples. The majority of events were annotated as alternative 3’ splice site (A3SS), followed by skipped exons (SE), alternative 5’ splice site (A5SS), alternative first exon (AFE), intron retention (IR), alternative last exon (ALE), and mutually exclusive exons (MXE). Percentages represent the proportion of each splicing event type relative to the total number of identified events. (B) Bar plot showing the pathway enrichment analysis based on Hallmark gene sets in SF3B1-mutant MDS samples. Pathways with positive normalized enrichment scores (NES) include MYC targets, oxidative phosphorylation, and heme metabolism, indicating significant upregulation. Pathways with negative NES, such as apoptosis, TGF-beta signaling, and TNF-alpha signaling, were downregulated. Results highlight the dysregulation of key pathways associated with SF3B1 mutations.
