Overview

Location [1]
Xp11.22
Pathway
Chromatin remodeling/DNA methylation
Protein [2]
Lysine-specific demethylase 5C
Synonyms [1]
MRX13, MRXJ, DXS1272E, MRXSCJ, SMCX, MRXSJ, JARID1C, XE169

Lysine (K)-specific demethylase 5C (KDM5C) is a gene that encodes a protein that functions in transcriptional regulation and chromatin remodeling. Missense mutations, nonsense mutations, silent mutations, frameshift deletions and insertions, and in-frame deletions and insertions are observed in cancers such as intestinal cancer, kidney cancer, and stomach cancer.

KDM5C is altered in 2.35% of all cancers with lung adenocarcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, clear cell renal cell carcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

KDM5C GENIE Cases - Top Diseases

The most common alterations in KDM5C are KDM5C Mutation (1.74%), KDM5C Loss (0.34%), KDM5C Amplification (0.12%), KDM5C Fusion (0.16%), and KDM5C A1260S (0.05%) [3].

KDM5C GENIE Cases - Top Alterations

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.