TMEM14C
Overview
TMEM14C (Transmembrane Protein 14C) encodes a mitochondrial inner membrane protein involved in heme biosynthesis. In the context of SF3B1-mutant breast cancer, TMEM14C was identified as one of several alternatively spliced transcripts whose splicing is disrupted by SF3B1 hotspot mutations, highlighting downstream transcriptomic consequences of spliceosome dysfunction.
Alterations observed in the corpus
- TMEM14C is among the alternatively spliced transcripts identified in SF3B1-mutant breast cancer (WES and RNA-seq of 103 breast tumors); aberrant splicing of TMEM14C may contribute to the convergent pathway alterations seen across SF3B1 hotspot mutations PMID:22158541
Cancer types (linked)
- BRCA: Alternatively spliced in SF3B1-mutant breast cancer, particularly in HR+ HER2- subtypes PMID:22158541
Co-occurrence and mutual exclusivity
- Alternative splicing of TMEM14C is associated with SF3B1 hotspot mutations (K700E, R625C/G/H/L, K666E/N/Q) in breast cancer PMID:22158541
Therapeutic relevance
- No direct therapeutic relevance established in the current corpus; alternatively spliced transcripts including TMEM14C may guide future therapeutic strategies in SF3B1-mutant cancers PMID:22158541
Open questions
- Whether aberrant TMEM14C splicing has functional consequences in SF3B1-mutant breast cancer is not established.
Sources
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