KEL

Overview

KEL (Kell Blood Group Metallopeptidase 1) encodes a type II transmembrane zinc endopeptidase that is the major component of the Kell blood group antigen system. In cancer genomics, KEL has been identified as a significantly mutated gene in glioblastoma multiforme by large-scale whole-exome sequencing studies, though its functional role in GBM pathogenesis remains unclear.

Alterations observed in the corpus

  • Identified as an additional significantly mutated gene (SMG) in GBM by MutSig analysis (q<0.1, ~5% frequency) in the TCGA 2013 primary GBM cohort of 291 whole-exome-sequenced cases PMID:24120142

Cancer types (linked)

  • GBM: significantly mutated gene (~5% frequency) in the TCGA 2013 GBM cohort; classified alongside SPTA1 and GABRA6 as additional MutSig SMGs.

Co-occurrence and mutual exclusivity

  • No co-occurrence or mutual exclusivity patterns reported in the corpus for KEL in GBM.

Therapeutic relevance

  • Not targeted in the corpus; functional role in GBM has not been characterized.

Open questions

  • Functional consequence of KEL mutation in GBM and whether it is a bona fide driver or a passenger mutation remains uncharacterized PMID:24120142

Sources

This page was processed by crosslinker on 2026-05-09.