Overview

Location [1]
2p23.3
Protein [2]
Putative Polycomb group protein ASXL2
Synonyms [1]
SHAPNS, ASXH2

Additional sex combs like transcriptional regulator 2 (ASXL2) is a gene that encodes a protein that functions in transcriptional activation and silencing. Missense mutations, nonsense mutations, silent mutations, and frameshift deletions and insertions are observed in cancers such as endometrial cancer, intestinal cancer, and skin cancer.

ASXL2 is altered in 1.76% of all cancers with lung adenocarcinoma, breast invasive ductal carcinoma, colon adenocarcinoma, prostate adenocarcinoma, and cutaneous melanoma having the greatest prevalence of alterations [3].

ASXL2 GENIE Cases - Top Diseases

The most common alterations in ASXL2 are ASXL2 Loss (0.09%), ASXL2 Amplification (0.08%), ASXL2 R357* (0.04%), ASXL2 R312* (0.03%), and ASXL2 M1? (0.03%) [3].

ASXL2 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.