Gene Location [1]
Chromatin remodeling/DNA methylation

KDM6A Mutation is present in 2.13% of AACR GENIE cases, with bladder urothelial carcinoma, lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence [4].

Top Disease Cases with KDM6A Mutation

Significance of KDM6A Mutation in Diseases

Medulloblastoma +

Medulloblastoma, Non-WNT/Non-SHH +

Bladder Carcinoma +

Desmoplastic/Nodular Medulloblastoma +

Malignant Solid Tumor +

Central Nervous System Embryonal Neoplasm +

Glioblastoma +

Breast Carcinoma +

Anaplastic Astrocytoma +

Central Nervous System Ganglioneuroblastoma +

Central Nervous System Neuroblastoma +

Large Cell/Anaplastic Medulloblastoma +

Medulloblastoma With Extensive Nodularity +

Medulloblastoma, SHH-Activated +

Medulloblastoma, WNT-Activated +

Medulloepithelioma +

Endometrial Endometrioid Adenocarcinoma +

Anaplastic Oligodendroglioma +

Melanoma +

Head And Neck Carcinoma +

Malignant Ovarian Endometrioid Tumor +

Colorectal Carcinoma +

High-Grade Glioma, NOS +

Non-Small Cell Lung Carcinoma +

Malignant Glioma +

Diffuse Glioma +

Pancreatic Carcinoma +

Anaplastic Ependymoma +

Ovarian Carcinoma +

Malignant Ovarian Clear Cell Tumor +

Lymphoma +

Synovial Sarcoma +

Sarcomatoid Carcinoma +

Sarcoma +

Soft Tissue Sarcoma +

Anaplastic Astrocytoma, IDH-Mutant +

Anaplastic Oligodendroglioma, IDH-Mutant And 1p/19q-Codeleted +

Anaplastic Pleomorphic Xanthoastrocytoma +

Atypical Teratoid/Rhabdoid Tumor +

Diffuse Midline Glioma, H3 K27M-Mutant +

Embryonal Tumor With Multilayered Rosettes, C19MC-Altered +

Embryonal Tumor With Multilayered Rosettes, Not Otherwise Specified +

Ependymoma +

Ependymoma, RELA Fusion-Positive +

Epithelioid Sarcoma +

Pineoblastoma +

Rhabdoid Tumor +


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. 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 8. 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.