Gene affected:
U2AF1 - U2 Small Nuclear RNA Auxiliary Factor 1
Clinical significance
Mutation of U2AF1 is associated with myelodysplasia where it may be associated with adverse outcome although overall evidence is unclear.

Function of gene

U2AF1 forms part of the spliceosome complex. U2AF1 plays a critical role in the protein-protein interactions and protein-RNA interactions involved in 3'-splice site selection. Mutations of U2AF1 are thought to promote malignancy through mis-splicing genes affecting biological pathways such as DNA methylation (DNMT3B), X chromosome inactivation (H2AFY), the DNA damage response (ATR, FANCA), and apoptosis (CASP8), epigenetic regulation, gene transcription and genome integrity.

NGS panel gene coverage

Exons 2 and 6


Mutations of U2AF1 are believed to impair maturation of erythroid cells and are associated with myelodysplastic syndromes (7%)
Present evidence may suggest that mutation of U2AF1 may cause adverse clinical outcome however this is not shown in all studies.

Associated genetic features: U2AF1 mutations are associated with mutation of ASXL1 or DNMT3A mutations


GeneWiki link:
Gene Wiki entry for U2AF1
Reference links:
1. Paper describing mutations of U2AF1
2. Incidence and clinical significance
3. Incidence and clinical significance