| Variant ID | 1099 |
|---|---|
| Entrez Gene ID | 85021 |
| Gene | REPS1 (GeneCards) |
| Location | hg19 6:139241380-139241380
hg38 6:138920243-138920243 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000006.11:g.139241380 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 500 |
| Amino acid changes in protein | S > S |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 4350333 |
| Variant occurences in COSMIC | 1(large_intestine) |
| EIGEN score | 0.7073 |
| CADD Raw score (version 1.3) | 2.182903 (Deleterious) |
| FATHMM raw prediction score | 0.7856 (Tolerated) |
| Deleterious probability by DeFine | 0.7088 (Deleterious) |
| Entrez Gene ID | 85021 (NCBI Gene) |
|---|---|
| Official Gene Symbol | REPS1 (GeneCards) |
| Number of variants in REPS1 in this database | 3 (view all the variants) |
| Full name | RALBP1 associated Eps domain containing 1 |
| Band | 6q24.1 |
| Other IDs | Vega: OTTHUMG00000015685 OMIM: 614825 HGNC: HGNC:15578 Ensembl: ENSG00000135597 |
| Other names | NBIA7, RALBP1 |
| Summary | This gene encodes a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014] |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |