- 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
Associated genetic features: U2AF1 mutations are associated with mutation of ASXL1 or DNMT3A mutations
- GeneWiki link:
- Reference links: