| Variant ID | 11412 |
|---|---|
| Entrez Gene ID | 9732 |
| Gene | DOCK4 (GeneCards) |
| Location | hg19 7:111796536-111796536
hg38 7:112156481-112156481 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000007.13:g.111796536 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 | -0.0945 |
| CADD Raw score (version 1.3) | -0.197294 (Deleterious) |
| FATHMM raw prediction score | 0.15815 (Tolerated) |
| Deleterious probability by DeFine | 0.4339 (Neutral) |
| Entrez Gene ID | 9732 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DOCK4 (GeneCards) |
| Number of variants in DOCK4 in this database | 8 (view all the variants) |
| Full name | dedicator of cytokinesis 4 |
| Band | 7q31.1 |
| Other IDs | Vega: OTTHUMG00000155077 OMIM: 607679 HGNC: HGNC:19192 Ensembl: ENSG00000128512 |
| Other names | None |
| Summary | This gene is a member of the dedicator of cytokinesis (DOCK) family and encodes a protein with a DHR-1 (CZH-1) domain, a DHR-2 (CZH-2) domain and an SH3 domain. This membrane-associated, cytoplasmic protein functions as a guanine nucleotide exchange factor and is involved in regulation of adherens junctions between cells. Mutations in this gene have been associated with ovarian, prostate, glioma, and colorectal cancers. Alternatively spliced variants which encode different protein isoforms have been described, but only one has been fully characterized. [provided by RefSeq, Jul 2008] |
| 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; |