SPTA1

Overview

SPTA1 encodes alpha-spectrin 1, a cytoskeletal protein critical for red blood cell membrane integrity. In GBM, SPTA1 was identified as a significantly mutated gene (SMG) by MutSig analysis, though its role as a cancer driver is not yet established.

Alterations observed in the corpus

  • Somatic mutation in 9% of GBM; identified as a MutSig SMG (q<0.1) in the TCGA GBM comprehensive genomic characterization PMID:24120142
  • Identified as a MutSigCV-significant recurrently mutated gene in pancreatic ductal adenocarcinoma (109-case WES cohort); functional role in PDA biology remains to be validated. PMID:25855536

Cancer types (linked)

  • GBM — somatic mutation in 9% of 291 cases; identified by MutSig analysis alongside GABRA6 (4%) and KEL (5%) as additional significantly mutated genes beyond the core GBM drivers PMID:24120142

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • No direct therapeutic targeting reported in the corpus.

Open questions

  • Whether SPTA1 mutations in GBM represent true driver events or are passenger mutations facilitated by high mutation rate is unresolved; the cytoskeletal biology of SPTA1 does not have an obvious mechanistic connection to gliomagenesis.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:25855536

This page was processed by crosslinker on 2026-05-14.