Biomarkers /

SH2D1A

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Overview

Location [1]
Xq25
Protein [2]
SH2 domain-containing protein 1A
Synonyms [1]
DSHP, XLP, IMD5, MTCP1, SAP, SAP/SH2D1A, XLPD1, LYP, XLPD, EBVS

SH2D1A is altered in 0.50% of all cancers with lung adenocarcinoma, high grade ovarian serous adenocarcinoma, endometrial endometrioid adenocarcinoma, breast invasive ductal carcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

SH2D1A GENIE Cases - Top Diseases

The most common alterations in SH2D1A are SH2D1A Loss (0.16%), SH2D1A Amplification (0.05%), SH2D1A V40M (0.09%), SH2D1A R75I (0.01%), and SH2D1A R78W (0.01%) [3].

SH2D1A 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.