| Variant ID | 29805 |
|---|---|
| Entrez Gene ID | 1021 |
| Gene | CDK6 (GeneCards) |
| Location | hg19 7:92355021-92355021
hg38 7:92725707-92725707 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000007.13:g.92355021 C>T (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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.2724 |
| CADD Raw score (version 1.3) | 1.123348 (Deleterious) |
| FATHMM raw prediction score | 0.95426 (Tolerated) |
| Deleterious probability by DeFine | 0.8289 (Deleterious) |
| Entrez Gene ID | 1021 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDK6 (GeneCards) |
| Number of variants in CDK6 in this database | 2 (view all the variants) |
| Full name | cyclin dependent kinase 6 |
| Band | 7q21.2 |
| Other IDs | Vega: OTTHUMG00000131697 OMIM: 603368 HGNC: HGNC:1777 Ensembl: ENSG00000105810 |
| Other names | MCPH12, PLSTIRE |
| Summary | The protein encoded by this gene is a member of the CMGC family of serine/threonine protein kinases. This kinase is a catalytic subunit of the protein kinase complex that is important for cell cycle G1 phase progression and G1/S transition. The activity of this kinase first appears in mid-G1 phase, which is controlled by the regulatory subunits including D-type cyclins and members of INK4 family of CDK inhibitors. This kinase, as well as CDK4, has been shown to phosphorylate, and thus regulate the activity of, tumor suppressor protein Rb. Altered expression of this gene has been observed in multiple human cancers. A mutation in this gene resulting in reduced cell proliferation, and impaired cell motility and polarity, and has been identified in patients with primary microcephaly. [provided by RefSeq, Aug 2017] |
| Individual ID | 28867142.34 (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; |