SF3B1 is the most frequently mutated splicing factor in human cancer. SF3B1 mutations lead to cryptic 3' splice site selection, and the splicing pattern demonstrates a clear hotspot and tumor lineage specificity. Here, we introduced the top two commonly mutated SF3B1 hotspots, K700E and R625, into human melanocytes, melanoma cell lines, and hematological cancer cell lines to compare the diversity of mis-splicing. Furthermore, we aimed to clarify the key functions induced by the SF3B1 R625H mutation, which drives oncogenesis in melanoma.
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Individuals & samples
Files
Submitter: Liu Zhaoqi / liuzq@big.ac.cn
Organization: Beijing Institute of Genomics, Chinese Academy of Sciences / China National Center for Bioinformation
Submission date: 2024-03-22
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HRA007011.xlsx