Gene Detail

Contact

Missing content? – Request curation!

Request curation for specific Genes, variants, or PubMed publications.

Have questions, comments or suggestions? - Let us know!

Email us at : ckbsupport@jax.org

Gene Symbol U2AF1
Synonyms FP793 | RN | RNU2AF1 | U2AF35 | U2AFBP
Gene Description U2AF1, U2 small nuclear RNA auxiliary factor 1, is a 35 kDa subunit splicing factor, that functions in 3' splice site recognition to regulate expression of genes involved in hematological and solid tumor development (PMID: 2963698, PMID: 28986033, PMID: 32303702). U2AF1 is frequently mutated in myelodysplatic syndrome (MDS), chronic myelomonocytic leukemia, atypical CML, acute myeloid leukemia, and lung adenocarcinoma (PMID: 23645565, PMID: 22678168, PMID: 24498085, PMID: 30138727, PMID: 29991672).

Filtering

  • Case insensitive filtering will display rows where any text in any cell matches the filter term
  • Simple literal full or partial string matches
  • Separate multiple filter terms with a spaces, order doesn't matter (a b c and c b a are equivalent )
  • Filtering will only apply to rows that are already loaded on the page, filtering has no impact on query parameters
  • Use quotes to match a longer phrase which contains spaces "mtor c1483f"

Sorting

  • Generally, the default sort order for tables is set to be first column ascending, however, specific tables may set a different default sort order.
  • Click on any column header arrows to sort by that column
  • Hold down the Shift key and click multiple columns to sort by more than one column, be sure to set ascending or descending order for a given column, before moving on to the next column.

Variant Impact Protein Effect Variant Description Associated with drug Resistance
Q157X missense unknown U2AF1 Q157X indicates any U2af1 missense mutation that results in replacement of the glutamine (Q) at amino acid 157 by a different amino acid.
R156X missense unknown U2AF1 R156X indicates any U2af1 missense mutation that results in replacement of the arginine (R) at amino acid 156 by a different amino acid.
S34X missense unknown U2AF1 S34X indicates any U2af1 missense mutation that results in replacement of the serine (S) at amino acid 34 by a different amino acid.
act mut unknown gain of function U2AF1 act mut indicates that this variant results in a gain of function in the U2af1 protein. However, the specific amino acid change has not been identified.
inact mut unknown loss of function U2AF1 inact mut indicates that this variant results in a loss of function of the U2af1 protein. However, the specific amino acid change has not been identified.
mutant unknown unknown U2AF1 mutant indicates an unspecified mutation in the U2AF1 gene.