ENOSF1
Overview
ENOSF1 (enolase superfamily member 1) encodes a mitochondria-associated protein. In cancer genomics, ENOSF1 is notable as one of the top alternatively spliced transcripts driven by SF3B1 hotspot mutations in breast cancer, identified through RNA-seq profiling of isogenic knock-in models.
Alterations observed in the corpus
- ENOSF1 is among the top alternatively spliced transcripts shared across all SF3B1 hotspot mutations (K700E, R625C, R625H) in HR+ HER2- breast cancer; alternative 3’ splice site usage is dose-dependent with mutant VAF PMID:22158541
Cancer types (linked)
- BRCA (HR+ HER2-): Altered splicing of ENOSF1 is a convergent downstream consequence of SF3B1 driver mutations in breast cancer, identified by RNA-seq across isogenic cell line models PMID:22158541
Co-occurrence and mutual exclusivity
- ENOSF1 splicing dysregulation is part of a convergent alternatively spliced transcript signature shared with DLST, GCC2, and TMEM14C across SF3B1 hotspots PMID:22158541
Therapeutic relevance
- No direct therapeutic targeting reported in the corpus. Alternatively spliced ENOSF1 transcripts may guide future strategies in SF3B1-mutant cancers.
Open questions
- The functional consequence of aberrant ENOSF1 splicing in SF3B1-mutant breast cancer cells remains unknown PMID:22158541
Sources
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