Overview

Location [1]
Xp11.23
Protein [2]
Protein SSX1
Synonyms [1]
CT5.1, SSRC

Synovial sarcoma, X breakpoint 1 (SSX1) is a gene that encodes a protein that functions as a transcriptional repressor. The protein also elicits humoral and cellular immune responses in cancer patients. Fusions, missense mutations, nonsense mutations, and silent mutations are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer

SSX1 is altered in 0.08% of all cancers with synovial sarcoma, high grade ovarian serous adenocarcinoma, poorly differentiated carcinoma, NOS, breast invasive ductal carcinoma, and pancreatic adenocarcinoma having the greatest prevalence of alterations [3].

SSX1 GENIE Cases - Top Diseases

The most common alterations in SSX1 are SSX1-SS18 Fusion (0.03%), SSX1 A29D (0.22%), SSX1 D13N (10.00%), SSX1 D13Y (0.39%), and SSX1 D78G (0.30%) [3].

SSX1 GENIE Cases - Top Alterations

Significance of SSX1 in Diseases

Synovial Sarcoma +

Malignant Solid Tumor +

Epithelioid Sarcoma +

Rhabdoid Tumor +

Bladder Carcinoma +

Breast Carcinoma +

Endometrial Endometrioid Adenocarcinoma +

Malignant Ovarian Clear Cell Tumor +

Malignant Ovarian Endometrioid Tumor +

Sarcomatoid Carcinoma +

Soft Tissue Sarcoma +

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.