Cancer associated SF3B1 hotspot mutations induce cryptic 3' splice site selection through use of a different branch point
Recurrent mutations in the spliceosome are observed in several human cancers but their functional and therapeutic significance remain elusive. SF3B1, the most frequently mutated component of the spliceosome in cancer, is involved in the recognition of the branch point sequence (BPS) during selection of the 3’ splice site (ss) in RNA splicing. Here, we report that common and tumor-specific splicing aberrations are induced by SF3B1 mutations and establish aberrant 3’ ss selection as the most frequ...
Provenance — who produced it, who reused it
Linked to 8 papers in the literature. Roles are inferred factual signals (who deposited the data vs who reused it), with counts — never a judgement about any author.
- Spliceosomal disruption of the non-canonical BAF complex in canc... 2019 · 241 cites
- Synthetic Lethal and Convergent Biological Effects of Cancer-Ass... 2018 · 213 cites
- Mutations in the RNA Splicing Factor SF3B1 Promote Tumorigenesis... 2020 · 122 cites
5 further papers cite this accession but reuse could not be confirmed.
Deep data QC
metadata only · no data-level QC for this typeStandardized, field-standard QC computed by touching the data — every metric states how it was obtained
No quantitative QC rubric exists for this data type yet, so it is deliberately left unscored — this is an honest "not applicable", not a poor rating.
measured = computed from the data · extrapolated/reported = derived or from the repository · dq-1.0 · provisional — verify independently