| Variant ID | 20717 |
|---|---|
| Entrez Gene ID | 7525 |
| Gene | YES1 (GeneCards) |
| Location | hg19 18:766795-766795
hg38 18:766794-766794 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000018.9:g.766795 C>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 | 78077248 |
| MAF in gnomAD genome (version 2.0.1) | 0.00006472 |
|---|---|
| EIGEN score | -0.2207 |
| CADD Raw score (version 1.3) | 0.074578 (Deleterious) |
| FATHMM raw prediction score | 0.05978 (Tolerated) |
| Deleterious probability by DeFine | 0.2294 (Neutral) |
| Entrez Gene ID | 7525 (NCBI Gene) |
|---|---|
| Official Gene Symbol | YES1 (GeneCards) |
| Number of variants in YES1 in this database | 4 (view all the variants) |
| Full name | YES proto-oncogene 1, Src family tyrosine kinase |
| Band | 18p11.32 |
| Other IDs | Vega: OTTHUMG00000131472 OMIM: 164880 HGNC: HGNC:12841 Ensembl: ENSG00000176105 |
| Other names | Yes, c-yes, HsT441, P61-YES |
| Summary | This gene is the cellular homolog of the Yamaguchi sarcoma virus oncogene. The encoded protein has tyrosine kinase activity and belongs to the src family of proteins. This gene lies in close proximity to thymidylate synthase gene on chromosome 18, and a corresponding pseudogene has been found on chromosome 22. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Male 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; |