Gene: U2AF1

Alternate names for this Gene: FP793|RN|RNU2AF1|U2AF35|U2AFBP

Gene Summary: This gene belongs to the splicing factor SR family of genes. U2 auxiliary factor, comprising a large and a small subunit, is a non-snRNP protein required for the binding of U2 snRNP to the pre-mRNA branch site. This gene encodes the small subunit which plays a critical role in both constitutive and enhancer-dependent RNA splicing by directly mediating interactions between the large subunit and proteins bound to the enhancers. Alternatively spliced transcript variants encoding different isoforms have been identified.

Gene is located in Chromosome: 21

Location in Chromosome : 21q22.3

Description of this Gene: U2 small nuclear RNA auxiliary factor 1

Type of Gene: protein-coding

rs371769427 in U2AF1 gene and Adenocarcinoma of lung (disorder) PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371769427 in U2AF1 gene and Adenocarcinoma of pancreas PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371246226 in U2AF1 gene and Leukemia, Myelocytic, Acute PMID 23029227 2012 U2AF1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.

PMID 22158538 2011 Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.

PMID 24498085 2014 A pan-cancer analysis of transcriptome changes associated with somatic mutations in U2AF1 reveals commonly altered splicing events.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371246226 in U2AF1 gene and MYELODYSPLASTIC SYNDROME PMID 22158538 2011 Recurrent mutations in the U2AF1 splicing factor in myelodysplastic syndromes.

PMID 25311244 2015 We previously identified missense mutations in the U2AF1 splicing factor affecting codons S34 (S34F and S34Y) or Q157 (Q157R and Q157P) in 11% of the patients with de novo myelodysplastic syndrome (MDS).

PMID 23861105 2013 Clinical implications of U2AF1 mutation in patients with myelodysplastic syndrome and its stability during disease progression.

PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371769427 in U2AF1 gene and Malignant Uterine Corpus Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371769427 in U2AF1 gene and Squamous cell carcinoma of the head and neck PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371769427 in U2AF1 gene and Transitional cell carcinoma of bladder PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371769427 in U2AF1 gene and Uterine Carcinosarcoma PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.

rs371769427 in U2AF1 gene and Uterine Cervical Neoplasm PMID 26619011 2016 Identifying recurrent mutations in cancer reveals widespread lineage diversity and mutational specificity.