| Variant ID | 16940 |
|---|---|
| Entrez Gene ID | 51347 |
| Gene | TAOK3 (GeneCards) |
| Location | hg19 12:118586628-118586628
hg38 12:118148823-118148823 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.118586628 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.5675 |
| CADD Raw score (version 1.3) | -0.286443 (Deleterious) |
| FATHMM raw prediction score | 0.07405 (Tolerated) |
| Deleterious probability by DeFine | 0.3431 (Neutral) |
| Entrez Gene ID | 51347 (NCBI Gene) |
|---|---|
| Official Gene Symbol | TAOK3 (GeneCards) |
| Number of variants in TAOK3 in this database | 2 (view all the variants) |
| Full name | TAO kinase 3 |
| Band | 12q24.23 |
| Other IDs | Vega: OTTHUMG00000168875 OMIM: 616711 HGNC: HGNC:18133 Ensembl: ENSG00000135090 |
| Other names | DPK, JIK, hKFC-A, MAP3K18 |
| Summary | The protein encoded by this gene is a serine/threonine protein kinase that activates the p38/MAPK14 stress-activated MAPK cascade but inhibits the basal activity of the MAPK8/JNK cascade. The encoded protein is a member of the GCK subfamily of STE20-like kinases. [provided by RefSeq, Oct 2016] |
| Individual ID | 29217584.19 (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; |