Overview

Location [1]
16p13.3
Pathway
Beta-Catenin/WNT signaling
Protein [2]
Axin-1
Synonyms [1]
PPP1R49, AXIN

Axin 1 (AXIN1) is a gene that encodes a cytoplasmic protein that functions as a negative regulator of the wingless-type MMTV integration site family, member 1 (WNT) signaling pathway. The protein also functions in the regulation of apoptotic induction.  Missense mutations, nonsense mutations, silent mutations, whole gene deletions, frameshift deletions and insertions, and in-frame insertions are observed in cancers such as biliary tract cancer, liver cancer, and salivary gland cancer.

AXIN1 is altered in 1.58% of all cancers with colon adenocarcinoma, lung adenocarcinoma, breast invasive ductal carcinoma, cutaneous melanoma, and prostate adenocarcinoma having the greatest prevalence of alterations [3].

AXIN1 GENIE Cases - Top Diseases

The most common alterations in AXIN1 are AXIN1 Mutation (1.15%), AXIN1 Loss (0.15%), AXIN1 Amplification (0.15%), AXIN1 X372_splice (0.03%), and AXIN1 H534Q (0.02%) [3].

AXIN1 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.