EIF1AX

Overview

EIF1AX (Eukaryotic Translation Initiation Factor 1A, X-Linked) encodes a component of the translation initiation machinery. In cancer genomics, EIF1AX mutations occur recurrently in thyroid cancers, particularly in well-differentiated papillary thyroid carcinoma and anaplastic thyroid carcinoma (ATC), where they tend to co-occur with RAS mutations.

Alterations observed in the corpus

  • Mutations identified in 5 anaplastic thyroid carcinoma (ATC) tumors, including a p.A113X splice-site mutation; EIF1AX mutations tend to co-occur with RAS mutations in this context PMID:38412093.
  • Novel papillary thyroid carcinoma (PTC) driver; mutated in 6/402 (1.5%) TCGA PTC cases (q=5.3×10⁻⁸); near-mutually exclusive with MAPK drivers (RAS/BRAF); 4/6 mutations are RAS-like (RL) by BRS expression signature. PMID:25417114
  • Mutated in 4/28 uveal melanoma samples (p.P2L, p.G6V, p.G8R, splice); mutations occur at the N-terminus and are mutually exclusive with BAP1 mutations PMID:26683228
  • EIF1AX N-terminal hotspot or thyroid-specific p.A113splice mutations occur in 11% of PDTC and 9% of ATC (vs 1% PTC); near-perfect co-occurrence with RAS (OR 58.3, P < 0.001); EIF1AX mutations are associated with larger tumors and shorter PDTC survival (logrank P = 0.048) PMID:26878173

Cancer types (linked)

  • THAP — recurrent mutations, including splice-site p.A113X; co-occurs with RAS mutations PMID:38412093.

Co-occurrence and mutual exclusivity

Therapeutic relevance

  • Not reported in the corpus.

Open questions

  • Whether EIF1AX mutations serve as drivers or co-drivers (with RAS) of ATC transformation is unresolved PMID:38412093.

Sources

This page was processed by crosslinker on 2026-05-14. - PMID:25417114

This page was processed by crosslinker on 2026-05-14. - PMID:26683228

This page was processed by crosslinker on 2026-05-14. - PMID:26878173

This page was processed by wiki-cli on 2026-05-14.