RIMS1

Overview

RIMS1 (Regulating Synaptic Membrane Exocytosis 1) encodes a scaffold protein at the presynaptic active zone that regulates neurotransmitter release. It is located on chromosome 6q. In adenoid cystic carcinoma (ACC), RIMS1 was identified as a single-tumor translocation partner of NFIB, producing an NFIB–RIMS1 fusion as part of the broader pattern of NFIB rearrangements that characterize ACC.

Alterations observed in the corpus

  • Single-tumor NFIB–RIMS1 fusion (chromosome 6q partner) identified by WGS in a 25-sample ACC cohort; RIMS1 is one of five distinct NFIB translocation partners (MYB, MAP3K5, MYBL1, MYO6, RPS6KA2 also observed) PMID:26862087

Cancer types (linked)

  • ACYC (adenoid cystic carcinoma): RIMS1 identified as a non-recurrent fusion partner of NFIB (1/25 tumors); NFIB overexpression in fusion-positive tumors drives an oncogenic transcriptional program PMID:26862087

Co-occurrence and mutual exclusivity

  • All NFIB translocation partners (including RIMS1) are mutually exclusive with each other within individual tumors; MYB–NFIB is the dominant recurrent fusion (11/25), while RIMS1–NFIB is a single-tumor event PMID:26862087

Therapeutic relevance

  • No direct therapeutic data in this corpus; clinical significance of the NFIB–RIMS1 fusion specifically is unclear given single-tumor occurrence.

Open questions

  • Whether RIMS1 contributes a functional domain to NFIB fusion oncoproteins or is merely a positional bystander on 6q is unresolved.

Sources

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