| Variant ID | 29908 |
|---|---|
| Entrez Gene ID | 7525 |
| Gene | YES1 (GeneCards) |
| Location | hg19 18:756622-756622
hg38 18:756622-756622 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000018.9:g.756622 G>A (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 990026 |
| Variant occurences in COSMIC | 1(endometrium) |
| EIGEN score | 0.5741 |
| CADD Raw score (version 1.3) | 4.625429 (Deleterious) |
| FATHMM raw prediction score | 0.99077 (Tolerated) |
| SIFT score | 0.006 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.365 (Deleterious) |
| PROVEAN score | -1.3 (Tolerated) |
| MetaSVM score | -0.253 (Tolerated) |
| MetaLR score | 0.383 (Tolerated) |
| MCAP score | 0.086 (Deleterious) |
| FitCons score | 0.722 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.91 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.158 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 18.47 |
| Deleterious probability by iFish2 | 0.784 (Deleterious) |
| Deleterious probability by DeFine | 0.9435 (Deleterious) |
| 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 | 28867142.20 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |