Overview

Location [1]
12p13.31
Protein [2]
Chromodomain-helicase-DNA-binding protein 4
Synonyms [1]
Mi2-BETA, CHD-4, SIHIWES, Mi-2b

Chromodomain helicase DNA binding protein 4 (CHD4) is a gene that encodes a protein that is the main component of the nucleosome remodeling and deacetylase complex and plays an important role in epigenetic transcriptional repression. Missense mutations, synonymous mutations, nonsense mutations, inframe deletions, frameshift deletions, and frameshift insertions are observed in cancers such as stomach cancer, endometrial cancer, and colon cancer.

CHD4 is altered in 3.69% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, cutaneous melanoma, bladder urothelial carcinoma, and endometrial endometrioid adenocarcinoma having the greatest prevalence of alterations [3].

CHD4 GENIE Cases - Top Diseases

The most common alterations in CHD4 are CHD4 Mutation (3.09%), CHD4 Amplification (0.99%), CHD4 R1162W (0.09%), CHD4 R975H (0.09%), and CHD4 R1105W (0.28%) [3].

CHD4 GENIE Cases - Top Alterations

Significance of CHD4 in Diseases

Bladder Carcinoma +

Lymphoma +

Melanoma +

Colorectal Carcinoma +

Head And Neck Carcinoma +

Malignant Solid Tumor +

Breast Carcinoma +

Anaplastic Astrocytoma +

Glioblastoma +

Sarcoma +

Ovarian Carcinoma +

Non-Small Cell Lung Carcinoma +

Pancreatic Carcinoma +

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.