| Variant ID | 17865 |
|---|---|
| Entrez Gene ID | 9201 |
| Gene | DCLK1 (GeneCards) |
| Location | hg19 13:36521580-36521580
hg38 13:35947443-35947443 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000013.10:g.36521580 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 | 115169878 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 1.5646 |
| CADD Raw score (version 1.3) | 1.169456 (Deleterious) |
| FATHMM raw prediction score | 0.98296 (Tolerated) |
| Deleterious probability by DeFine | 0.9261 (Deleterious) |
| Entrez Gene ID | 9201 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCLK1 (GeneCards) |
| Number of variants in DCLK1 in this database | 7 (view all the variants) |
| Full name | doublecortin like kinase 1 |
| Band | 13q13.3 |
| Other IDs | Vega: OTTHUMG00000016729 OMIM: 604742 HGNC: HGNC:2700 Ensembl: ENSG00000133083 |
| Other names | CL1, DCLK, CLICK1, DCDC3A, DCAMKL1 |
| Summary | This gene encodes a member of the protein kinase superfamily and the doublecortin family. The protein encoded by this gene contains two N-terminal doublecortin domains, which bind microtubules and regulate microtubule polymerization, a C-terminal serine/threonine protein kinase domain, which shows substantial homology to Ca2+/calmodulin-dependent protein kinase, and a serine/proline-rich domain in between the doublecortin and the protein kinase domains, which mediates multiple protein-protein interactions. The microtubule-polymerizing activity of the encoded protein is independent of its protein kinase activity. The encoded protein is involved in several different cellular processes, including neuronal migration, retrograde transport, neuronal apoptosis and neurogenesis. This gene is up-regulated by brain-derived neurotrophic factor and associated with memory and general cognitive abilities. Multiple transcript variants generated by two alternative promoter usage and alternative splicing have been reported, but the full-length nature and biological validity of some variants have not been defined. These variants encode different isoforms, which are differentially expressed and have different kinase activities.[provided by RefSeq, Sep 2010] |
| 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; |