AJAP1

Overview

AJAP1 (adherens junctions associated protein 1) is a transmembrane protein involved in cell adhesion. It was identified as a significantly mutated gene in esophageal adenocarcinoma (EAC) through combined exome and whole-genome sequencing. Functional validation of its driver role is pending.

Alterations observed in the corpus

  • Significantly mutated in 6% of EAC tumors (145-sample exome/WGS cohort, esca_broad); nominated statistically but not yet experimentally validated as a cancer driver. PMID:23525077

Cancer types (linked)

  • ESCA (esophageal adenocarcinoma): recurrently mutated at 6% frequency; part of the set of additional significant candidates including AKAP6, HECW1, and NUAK1. PMID:23525077

Co-occurrence and mutual exclusivity

  • Co-listed with AKAP6 (8%), HECW1 (8%), and NUAK1 (3%) as additional EAC-significant candidates in the same discovery cohort. PMID:23525077

Therapeutic relevance

  • No approved therapeutic agents target AJAP1 directly; functional role in EAC driver biology requires experimental validation. PMID:23525077

Open questions

  • AJAP1 is nominated statistically but functional validation (invasion assays or comparable experiments) has not been performed for this gene in EAC. PMID:23525077

Sources

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