Biomarkers /
KDM6A
Overview
Lysine (K)-specific demethylase 6A (KDM6A) is a gene that encodes a protein that functions in the catalysis of the demethylation of tri/dimethylated histone H3. Missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as parathyroid cancer, salivary gland cancer, and cancers of the urinary tract.
KDM6A is altered in 3.37% of all cancers with bladder urothelial carcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, prostate adenocarcinoma, and colon adenocarcinoma having the greatest prevalence of alterations [3].
The most common alterations in KDM6A are KDM6A Mutation (2.13%), KDM6A Loss (0.29%), KDM6A Amplification (0.16%), KDM6A Q555* (0.05%), and KDM6A Fusion (0.11%) [3].
Clinical Trials
Significance of KDM6A in Diseases
References
1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20180821. San Francisco CA: Github;2015. https://github.com/biocommons/uta
2. The UniProt Consortium. UniProt: a worldwide hub of protein knowledge. Nucleic Acids Research. 2019;47:D506-D515.
3. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 8. This dataset does not represent the totality of the genetic landscape; see paper for more information.
4. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.