Overview

Location [1]
8q23.3
Protein [2]
CUB and sushi domain-containing protein 3
Synonyms [1]
-

CUB and Sushi multiple domains 3 (CSMD3) is a gene that encodes a protein with an unknown function. Missense mutations, silent mutations, nonsense mutations, and frameshift deletions are observed in cancers such as lung cancer, skin cancer, and stomach cancer.

CSMD3 is altered in 0.36% of all cancers with high grade ovarian serous adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, endometrial endometrioid adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

CSMD3 GENIE Cases - Top Diseases

The most common alterations in CSMD3 are CSMD3 D229N (0.28%), CSMD3 P1776Q (0.26%), CSMD3 R2228C (0.43%), CSMD3 R2601Q (0.44%), and CSMD3 R3551H (1.71%) [3].

CSMD3 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.