| Variant ID | 10062 |
|---|---|
| Entrez Gene ID | 11116 |
| Gene | FGFR1OP (GeneCards) |
| Location | hg19 6:167443020-167443020
hg38 6:167029532-167029532 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000006.11:g.167443020 T>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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.517 |
| CADD Raw score (version 1.3) | 0.037089 (Deleterious) |
| FATHMM raw prediction score | 0.04845 (Tolerated) |
| Deleterious probability by DeFine | 0.1008 (Neutral) |
| Entrez Gene ID | 11116 (NCBI Gene) |
|---|---|
| Official Gene Symbol | FGFR1OP (GeneCards) |
| Number of variants in FGFR1OP in this database | 3 (view all the variants) |
| Full name | FGFR1 oncogene partner |
| Band | 6q27 |
| Other IDs | Vega: OTTHUMG00000016011 OMIM: 605392 HGNC: HGNC:17012 Ensembl: ENSG00000213066 |
| Other names | FOP |
| Summary | This gene encodes a largely hydrophilic centrosomal protein that is required for anchoring microtubules to subcellular structures. A t(6;8)(q27;p11) chromosomal translocation, fusing this gene and the fibroblast growth factor receptor 1 (FGFR1) gene, has been found in cases of myeloproliferative disorder. The resulting chimeric protein contains the N-terminal leucine-rich region of this encoded protein fused to the catalytic domain of FGFR1. Alterations in this gene may also be associated with Crohn's disease, Graves' disease, and vitiligo. Alternatively spliced transcript variants that encode different proteins have been identified. [provided by RefSeq, Jul 2013] |
| 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; |