| Variant ID | 18765 |
|---|---|
| Entrez Gene ID | 23604 |
| Gene | DAPK2 (GeneCards) |
| Location | hg19 15:64216344-64216344
hg38 15:63924145-63924145 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000015.9:g.64216344 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 | 102531392 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0558 |
| CADD Raw score (version 1.3) | 0.425255 (Deleterious) |
| FATHMM raw prediction score | 0.13445 (Tolerated) |
| Deleterious probability by DeFine | 0.6035 (Deleterious) |
| Entrez Gene ID | 23604 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DAPK2 (GeneCards) |
| Number of variants in DAPK2 in this database | 2 (view all the variants) |
| Full name | death associated protein kinase 2 |
| Band | 15q22.31 |
| Other IDs | Vega: OTTHUMG00000132947 OMIM: 616567 HGNC: HGNC:2675 Ensembl: ENSG00000035664 |
| Other names | DRP1, DRP-1 |
| Summary | This gene encodes a protein that belongs to the serine/threonine protein kinase family. This protein contains a N-terminal protein kinase domain followed by a conserved calmodulin-binding domain with significant similarity to that of death-associated protein kinase 1 (DAPK1), a positive regulator of programmed cell death. Overexpression of this gene was shown to induce cell apoptosis. It uses multiple polyadenylation sites. [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; |