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Mutations in splicing proteins are associated with multiple human diseases including cancer, and to a lesser extent with idiopathic myopathies. We found that BUD13B, a component of the splicing machinery, is frequently mutated in cancer by analyzing mutations in cancer using the cBioPortal for Cancer Genomics. Among 1,210 cancers investigated, somatic missense mutations affecting the last exon of BUD13B were detected in 23% (248/1,210) of cancers, including the nucleoside-diphosphate kinase 2-related myopathy, breast, colorectal and lung cancers, and glioblastomas. The spliceosome-associated protein Bud13 represents the most frequently mutated splicing protein in cancer and myopathy, and may be involved in the onset and progression of cancers.
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