| Variant ID | 11370 |
|---|---|
| Entrez Gene ID | 9771 |
| Gene | RAPGEF5 (GeneCards) |
| Location | hg19 7:22378457-22378457
hg38 7:22338838-22338838 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.22378457 G>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1476 |
| CADD Raw score (version 1.3) | -0.038464 (Deleterious) |
| FATHMM raw prediction score | 0.11067 (Tolerated) |
| Deleterious probability by DeFine | 0.1966 (Neutral) |
| Entrez Gene ID | 9771 (NCBI Gene) |
|---|---|
| Official Gene Symbol | RAPGEF5 (GeneCards) |
| Number of variants in RAPGEF5 in this database | 3 (view all the variants) |
| Full name | Rap guanine nucleotide exchange factor 5 |
| Band | 7p15.3 |
| Other IDs | Vega: OTTHUMG00000152525 OMIM: 609527 HGNC: HGNC:16862 Ensembl: ENSG00000136237 |
| Other names | GFR, REPAC, MR-GEF |
| Summary | Members of the RAS (see HRAS; MIM 190020) subfamily of GTPases function in signal transduction as GTP/GDP-regulated switches that cycle between inactive GDP- and active GTP-bound states. Guanine nucleotide exchange factors (GEFs), such as RAPGEF5, serve as RAS activators by promoting acquisition of GTP to maintain the active GTP-bound state and are the key link between cell surface receptors and RAS activation (Rebhun et al., 2000 [PubMed 10934204]).[supplied by OMIM, Mar 2008] |
| Individual ID | 29217584.17 (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; |