Overview

Location [1]
8q24.3
Protein [2]
ATP-dependent DNA helicase Q4
Synonyms [1]
RECQ4

RecQ helicase-like 4 (RECQL4) is a gene that encodes a DNA helicase that is predominantly expressed in thymus and testis. Missense mutations, synonymous mutations, nonsense mutations, and frameshift deletions are observed in cancers such as stomach cancer, colon cancer, and endometrial cancer.

RECQL4 is altered in 3.85% of all cancers with breast invasive ductal carcinoma, lung adenocarcinoma, colon adenocarcinoma, prostate adenocarcinoma, and high grade ovarian serous adenocarcinoma having the greatest prevalence of alterations [3].

RECQL4 GENIE Cases - Top Diseases

The most common alterations in RECQL4 are RECQL4 Mutation (2.35%), RECQL4 Amplification (1.52%), RECQL4 G806E (0.04%), RECQL4 Deletion (0.03%), and RECQL4 Loss (0.02%) [3].

RECQL4 GENIE Cases - Top Alterations

Significance of RECQL4 in Diseases

Urothelial Carcinoma +

Small Cell Lung 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 6. 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.