Location [1]
Protein [2]
Transcription factor SOX-10
Synonyms [1]

SRY (sex determining region Y)-box 10 (SOX10) is a gene that encodes a transcription factor protein that is a member of the SOX family. The protein functions in the regulation of embryonic development. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as bone cancer, skin cancer, and stomach cancer.

SOX10 is altered in 1.10% of all cancers with cutaneous melanoma, colon adenocarcinoma, bladder urothelial carcinoma, lung adenocarcinoma, and breast invasive ductal carcinoma having the greatest prevalence of alterations [3].

SOX10 GENIE Cases - Top Diseases

The most common alterations in SOX10 are SOX10 Amplification (0.18%), SOX10 E187K (0.12%), SOX10 T243P (0.36%), SOX10 A210T (0.10%), and SOX10 D272N (0.06%) [3].

SOX10 GENIE Cases - Top Alterations


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.