| Variant ID | 14721 |
|---|---|
| Entrez Gene ID | 22943 |
| Gene | DKK1 (GeneCards) |
| Location | hg19 10:54147126-54147126
hg38 10:52387366-52387366 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000010.10:g.54147126 A>G (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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2451 |
| CADD Raw score (version 1.3) | -0.389938 (Deleterious) |
| FATHMM raw prediction score | 0.11962 (Tolerated) |
| Deleterious probability by DeFine | 0.3827 (Neutral) |
| Entrez Gene ID | 22943 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DKK1 (GeneCards) |
| Number of variants in DKK1 in this database | 2 (view all the variants) |
| Full name | dickkopf WNT signaling pathway inhibitor 1 |
| Band | 10q21.1 |
| Other IDs | Vega: OTTHUMG00000018247 OMIM: 605189 HGNC: HGNC:2891 Ensembl: ENSG00000107984 |
| Other names | SK, DKK-1 |
| Summary | This gene encodes a member of the dickkopf family of proteins. Members of this family are secreted proteins characterized by two cysteine-rich domains that mediate protein-protein interactions. The encoded protein binds to the LRP6 co-receptor and inhibits beta-catenin-dependent Wnt signaling. This gene plays a role in embryonic development and may be important in bone formation in adults. Elevated expression of this gene has been observed in numerous human cancers and this protein may promote proliferation, invasion and growth in cancer cell lines. [provided by RefSeq, Sep 2017] |
| Individual ID | 29217584.16 (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; |