| Variant ID | 34547 |
|---|---|
| Entrez Gene ID | 54715 |
| Gene | RBFOX1 (GeneCards) |
| Location | hg19 16:7427966-7427966
hg38 16:7377965-7377965 |
| Disease | Asymptomatic |
| Method | Whole Genome Sequencing Ion Torrent PGM Sequencing |
| Mutation(HGVS format) | NC_000016.9:g.7427966 A>T (Genome Assembly: hg19) |
| Exon or Intron | intron |
|---|---|
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0708 |
| CADD Raw score (version 1.3) | -0.021991 (Deleterious) |
| FATHMM raw prediction score | 0.21833 (Tolerated) |
| Deleterious probability by DeFine | 0.4591 (Neutral) |
| Entrez Gene ID | 54715 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RBFOX1 (GeneCards) |
| Number of variants in RBFOX1 in this database | 44 (view all the variants) |
| Full name | RNA binding fox-1 homolog 1 |
| Band | 16p13.3 |
| Other IDs | Vega: OTTHUMG00000129551 OMIM: 605104 HGNC: HGNC:18222 Ensembl: ENSG00000078328 |
| Other names | 2BP1, FOX1, A2BP1, FOX-1, HRNBP1 |
| Summary | The Fox-1 family of RNA-binding proteins is evolutionarily conserved, and regulates tissue-specific alternative splicing in metazoa. Fox-1 recognizes a (U)GCAUG stretch in regulated exons or in flanking introns. The protein binds to the C-terminus of ataxin-2 and may contribute to the restricted pathology of spinocerebellar ataxia type 2 (SCA2). Ataxin-2 is the product of the SCA2 gene which causes familial neurodegenerative diseases. Fox-1 and ataxin-2 are both localized in the trans-Golgi network. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2011] |
| Individual ID | 24760347.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 24760347 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 24760347 |
|---|---|
| Title | Somatic mutations found in the healthy blood compartment of a 115-yr-old woman demonstrate oligoclonal hematopoiesis |
| Journal | Genome Research |
| Publication date | 2014.04 |
| Disease | Asymptomatic |
| Number of cases | Female cases: 1; |