Overview

Location [1]
2q11.2
Protein [2]
AF4/FMR2 family member 3
Synonyms [1]
MLLT2-like, LAF4

AF3/FMR2 family, member 3 (AFF3) is a gene that encodes a protein that is a member of a family of nuclear transcription factors. Missense mutations, silent mutations, nonsense mutations, in-frame deletions, and frameshift deletions are observed in cancers such as skin cancer, colon cancer, and stomach cancer.

AFF3 is altered in 0.43% of all cancers with breast invasive ductal carcinoma, colon adenocarcinoma, esophageal adenocarcinoma, lung adenocarcinoma, and bladder urothelial carcinoma having the greatest prevalence of alterations [3].

AFF3 GENIE Cases - Top Diseases

The most common alterations in AFF3 are AFF3 T594_A596delinsS (0.59%), AFF3 A1141T (0.35%), AFF3 E648K (0.21%), AFF3 A1127T (0.22%), and AFF3 A1139S (0.39%) [3].

AFF3 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.