Variant ID | 28694 |
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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) |
Exon or Intron | NA |
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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 |
MAF in gnomAD genome (version 2.0.1) | 0.0001 |
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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) |
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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 ID | 29217587.03 (view all the variants in this individual) |
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Pubmed ID | 29217587 |
Whose mosaic mutation | Normal |
Phenotype | 1 |
Disease | Asymptomatic |
OMIM ID |