| Variant ID | 1573 |
|---|---|
| Entrez Gene ID | 7307 |
| Gene | U2AF1 (GeneCards) |
| Location | hg19 21:44524456-44524456
hg38 21:43104346-43104346 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000021.8:g.44524456 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 34 |
| Amino acid changes in protein | S > F |
| Position in cDNA | 101 |
| Changes in cDNA | C > T |
| mRNA accession | NM_001025203.1 |
| mRNA length | 971 |
| Reference length | 48129895 |
| MAF in gnomAD genome (version 2.0.1) | 0.00003229 |
|---|---|
| Variant IDs in COSMIC (version 89) | 166866 |
| Variant occurences in COSMIC | 1(ovary)|1(stomach)|12(haematopoietic_and_lymphoid_tissue)|4(urinary_tract)|12(pancreas)|5(liver)|1(oesophagus)|1(prostate)|21(lung)|2(thyroid)|2(cervix)|2(biliary_tract)|3(endometrium) |
| EIGEN score | 1.0441 |
| CADD Raw score (version 1.3) | 6.826068 (Deleterious) |
| FATHMM raw prediction score | 0.98129 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 3.875 (Deleterious) |
| PROVEAN score | -5.64 (Deleterious) |
| MetaSVM score | 0.082 (Deleterious) |
| MetaLR score | 0.41 (Tolerated) |
| MCAP score | 0.127 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.47 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.053 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.317 |
| Deleterious probability by iFish2 | 0.8471 (Deleterious) |
| Deleterious probability by DeFine | 0.9654 (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 ID | 28699658.22 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28699658 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Aplastic Anaemia (view all the variants in this disease) |
| OMIM ID | 609135 |
| Pubmed ID | 28699658 |
|---|---|
| Title | Telomere length and somatic mutations in correlation with response to immunosuppressive treatment in aplastic anaemia. |
| Journal | British Journal of Haematology |
| Publication date | 2017.08 |
| Disease | Aplastic Anaemia |
| Number of cases | Male cases: 22; Female cases: 1; cases of unknown sex: 4; |