| Variant ID | 29572 |
|---|---|
| Entrez Gene ID | 23097 |
| Gene | CDK19 (GeneCards) |
| Location | hg19 6:110942509-110942509
hg38 6:110621306-110621306 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000006.11:g.110942509 G>C (Genome Assembly: hg19) |
| 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 | 171115067 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.1295 |
| CADD Raw score (version 1.3) | 1.375722 (Deleterious) |
| FATHMM raw prediction score | 0.95518 (Tolerated) |
| SIFT score | 0.008 (Deleterious) |
| LRT score | 0.018 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.69 (Tolerated) |
| PROVEAN score | 0.12 (Tolerated) |
| MetaSVM score | -1.041 (Tolerated) |
| MetaLR score | 0.017 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.651 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.41 |
| PhyloP score based on multiple alignment of 100 vertebrates | 5.509 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 12.78 |
| Deleterious probability by iFish2 | 0.8739 (Deleterious) |
| Deleterious probability by DeFine | 0.9695 (Deleterious) |
| Entrez Gene ID | 23097 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CDK19 (GeneCards) |
| Number of variants in CDK19 in this database | 3 (view all the variants) |
| Full name | cyclin dependent kinase 19 |
| Band | 6q21 |
| Other IDs | Vega: OTTHUMG00000015365 OMIM: 614720 HGNC: HGNC:19338 Ensembl: ENSG00000155111 |
| Other names | CDK11, CDC2L6, bA346C16.3 |
| Summary | This gene encodes a protein that is one of the components of the Mediator co-activator complex. The Mediator complex is a multi-protein complex required for transcriptional activation by DNA binding transcription factors of genes transcribed by RNA polymerase II. The protein encoded by this gene is similar to cyclin-dependent kinase 8 which can also be a component of the Mediator complex. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2014] |
| Individual ID | 28714951.248 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |