Overview

Variant ID 28694
Entrez Gene ID 7307
Gene U2AF1 (GeneCards)
Location hg19 21:44522588-44522588
hg38 21:43102478-43102478
Disease Asymptomatic
Method Single cell Sequencing Cell cloning
Mutation(HGVS format) NC_000021.8:g.44522588 T>C (Genome Assembly: GRCh37)

Other information

Exon or Intron NA
Position in protein NA
Amino acid changes in protein NA > NA
Position in cDNA NA
Changes in cDNA NA > NA
mRNA accession NA
mRNA length NA
Reference length 48129895

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.0001
EIGEN score -0.4105
CADD Raw score (version 1.3) -0.303693 (Deleterious)
FATHMM raw prediction score 0.23498 (Tolerated)
Deleterious probability by DeFine 0.609 (Deleterious)
Entrez Gene ID 7307 (NCBI Gene)
Official Gene Symbol U2AF1 (GeneCards)
Number of variants in U2AF1 in this database 3 (view all the variants)
Full name U2 small nuclear RNA auxiliary factor 1
Band 21q22.3
Other IDs Vega: OTTHUMG00000086836
OMIM: 191317
HGNC: HGNC:12453
Ensembl: ENSG00000160201
Other names RN, FP793, U2AF35, U2AFBP, RNU2AF1
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. [provided by RefSeq, Jul 2008]

Individual #1

Individual ID 29217587.03 (view all the variants in this individual)
Pubmed ID 29217587
Whose mosaic mutation Normal  
Phenotype 1  
Disease Asymptomatic
OMIM ID