Gene Location [1]
Chromatin remodeling/DNA methylation

KDM6A Mutation is present in 2.49% of AACR GENIE cases, with bladder urothelial carcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, and pancreatic adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with KDM6A Mutation

Significance of KDM6A Mutation in Diseases

Bladder Carcinoma +

Pancreatic Carcinoma +

Malignant Solid Tumor +

Colorectal Carcinoma +

Melanoma +

Non-Small Cell Lung Carcinoma +

Glioblastoma +

Breast Carcinoma +

Lymphoma +

Ovarian Carcinoma +

Sarcoma +

Anaplastic Astrocytoma +

Head And Neck Carcinoma +

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Medulloblastoma, SHH-Activated +


1. Hart R and Prlic A. Universal Transcript Archive Repository. Version uta_20171026. 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. Liu X, Wu C, Li C, and Boerwinkle E. dbNSFP v3.0: A one-stop database of functional predictions and annotations for human nonsynonymous and splice site SNVs. Human Mutation. 2015;37:235-241.

Liu X, Jian X, and Boerwinkle E. dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions. Human Mutation. 2011;32:894-899.

4. The AACR Project GENIE Consortium. AACR Project GENIE: powering precision medicine through an international consortium. Cancer Discovery. 2017;7(8):818-831. Dataset Version 6. This dataset does not represent the totality of the genetic landscape; see paper for more information.

5. All assertions and clinical trial landscape data are curated from primary sources. You can read more about the curation process here.