| Variant ID | 11369 |
|---|---|
| Entrez Gene ID | 1607 |
| Gene | DGKB (GeneCards) |
| Location | hg19 7:14629559-14629559
hg38 7:14589934-14589934 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.14629559 G>A (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 | -0.6929 |
| CADD Raw score (version 1.3) | -0.390445 (Deleterious) |
| FATHMM raw prediction score | 0.05633 (Tolerated) |
| Deleterious probability by DeFine | 0.6439 (Deleterious) |
| Entrez Gene ID | 1607 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DGKB (GeneCards) |
| Number of variants in DGKB in this database | 21 (view all the variants) |
| Full name | diacylglycerol kinase beta |
| Band | 7p21.2 |
| Other IDs | Vega: OTTHUMG00000152477 OMIM: 604070 HGNC: HGNC:2850 Ensembl: ENSG00000136267 |
| Other names | DGK, DAGK2, DGK-BETA |
| Summary | Diacylglycerol kinases (DGKs) are regulators of the intracellular concentration of the second messenger diacylglycerol (DAG) and thus play a key role in cellular processes. Nine mammalian isotypes have been identified, which are encoded by separate genes. Mammalian DGK isozymes contain a conserved catalytic (kinase) domain and a cysteine-rich domain (CRD). The protein encoded by this gene is a diacylglycerol kinase, beta isotype. Several alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Apr 2017] |
| Individual ID | 29217584.17 (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; |