Overview

Location [1]
20q13.32
Pathway
G-protein signaling
Protein [2]
GPIPIRRH peptide
Synonyms [1]
GSP, C20orf45, GPSA, GNAS1, NESP, PITA3, AHO, GSA, SCG6, SgVI, POH

GNAS complex locus (GNAS) is a gene that encodes a protein that functions in transmembrane signal transduction. Missense mutations, nonsense mutations, silent mutations, and frameshift insertions are observed in cancers such as bone cancer, pituitary cancer, and testicular cancer.

GNAS is altered in 3.21% of all cancers with lung adenocarcinoma, colon adenocarcinoma, breast invasive ductal carcinoma, pancreatic adenocarcinoma, and appendix mucinous adenocarcinoma having the greatest prevalence of alterations [3].

GNAS GENIE Cases - Top Diseases

The most common alterations in GNAS are GNAS Mutation (2.33%), GNAS Amplification (1.14%), GNAS R201H (0.48%), GNAS R201C (0.33%), and GNAS Fusion (0.22%) [3].

GNAS 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.