| Variant ID | 983 |
|---|---|
| Entrez Gene ID | 85443 |
| Gene | DCLK3 (GeneCards) |
| Location | hg19 3:36759570-36759570
hg38 3:36718079-36718079 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000003.11:g.36759570 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 562 |
| Amino acid changes in protein | E > K |
| Position in cDNA | NA |
| Changes in cDNA | NA > NA |
| mRNA accession | NA |
| mRNA length | NA |
| Reference length | 198022430 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| Variant IDs in COSMIC (version 89) | 3915796 |
| Variant occurences in COSMIC | 1(skin) |
| EIGEN score | 0.5683 |
| CADD Raw score (version 1.3) | 7.379987 (Deleterious) |
| FATHMM raw prediction score | 0.98349 (Tolerated) |
| SIFT score | 0.142 (Tolerated) |
| LRT score | 0.005 (Tolerated) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 1.45 (Tolerated) |
| PROVEAN score | -3.03 (Deleterious) |
| MetaSVM score | -0.669 (Tolerated) |
| MetaLR score | 0.273 (Tolerated) |
| MCAP score | 0.019 (Tolerated) |
| FitCons score | 0.638 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 4.58 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.084 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 16.137 |
| Deleterious probability by iFish2 | 0.9181 (Deleterious) |
| Deleterious probability by DeFine | 0.9562 (Deleterious) |
| Entrez Gene ID | 85443 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCLK3 (GeneCards) |
| Number of variants in DCLK3 in this database | 4 (view all the variants) |
| Full name | doublecortin like kinase 3 |
| Band | 3p22.2 |
| Other IDs | Vega: OTTHUMG00000155805 OMIM: 613167 HGNC: HGNC:19005 Ensembl: ENSG00000163673 |
| Other names | CLR, DCK3, DCDC3C, DCAMKL3 |
| Summary | None |
| Individual ID | 27788131.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |