| Variant ID | 10430 |
|---|---|
| Entrez Gene ID | 5166 |
| Gene | PDK4 (GeneCards) |
| Location | hg19 7:95397289-95397289
hg38 7:95767977-95767977 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.95397289 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2546 |
| CADD Raw score (version 1.3) | 0.269389 (Deleterious) |
| FATHMM raw prediction score | 0.10633 (Tolerated) |
| Deleterious probability by DeFine | 0.0849 (Neutral) |
| Entrez Gene ID | 5166 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PDK4 (GeneCards) |
| Number of variants in PDK4 in this database | 8 (view all the variants) |
| Full name | pyruvate dehydrogenase kinase 4 |
| Band | 7q21.3 |
| Other IDs | Vega: OTTHUMG00000153977 OMIM: 602527 HGNC: HGNC:8812 Ensembl: ENSG00000004799 |
| Other names | None |
| Summary | This gene is a member of the PDK/BCKDK protein kinase family and encodes a mitochondrial protein with a histidine kinase domain. This protein is located in the matrix of the mitrochondria and inhibits the pyruvate dehydrogenase complex by phosphorylating one of its subunits, thereby contributing to the regulation of glucose metabolism. Expression of this gene is regulated by glucocorticoids, retinoic acid and insulin. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |