Fig. 5
From: Identification of UBA7 expression downregulation in myelodysplastic neoplasm with SF3B1 mutations

Spliceosome-mediated disruption of UBA7 in SF3B1-mutant samples. (A) Bar plot showing the top genes with the highest number of alternative splicing (AS) events in SF3B1-mutant samples. UBA7 demonstrates the greatest number of AS events, highlighting its susceptibility to splicing dysregulation in the context of SF3B1 mutations. (B) Boxplot illustrating the downregulation of UBA7 expression in SF3B1-mutant (red) compared to wild-type (WT) samples (blue). Gene expression is presented as log2-normalized counts, with a significant difference observed (adjusted p-value < 0.0001). This result suggests a functional impact of SF3B1 mutations on UBA7 expression, potentially contributing to disease pathogenesis.