| Variant ID | 19681 |
|---|---|
| Entrez Gene ID | 54715 |
| Gene | RBFOX1 (GeneCards) |
| Location | hg19 16:6913435-6913435
hg38 16:6863434-6863434 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000016.9:g.6913435 G>A (Genome Assembly: GRCh37) |
| 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 | 90354753 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2019 |
| CADD Raw score (version 1.3) | -0.017984 (Deleterious) |
| FATHMM raw prediction score | 0.10769 (Tolerated) |
| Deleterious probability by DeFine | 0.4499 (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 | 29217584.16 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |