| Variant ID | 24680 |
|---|---|
| Entrez Gene ID | 55619 |
| Gene | DOCK10 (GeneCards) |
| Location | hg19 2:225653872-225653872
hg38 2:224789155-224789155 |
| Disease | Asymptomatic |
| Method | Single cell Sequencing Cell cloning |
| Mutation(HGVS format) | NC_000002.11:g.225653872 C>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 | 243199373 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.9748 |
| CADD Raw score (version 1.3) | 7.501912 (Deleterious) |
| FATHMM raw prediction score | 0.98816 (Tolerated) |
| SIFT score | 0.001 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.81 (Deleterious) |
| PROVEAN score | -5.9 (Deleterious) |
| MetaSVM score | -0.633 (Tolerated) |
| MetaLR score | 0.208 (Tolerated) |
| MCAP score | 0.061 (Deleterious) |
| FitCons score | 0.732 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | 7.557 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 20.208 |
| Deleterious probability by iFish2 | 0.8555 (Deleterious) |
| Deleterious probability by DeFine | 0.8919 (Deleterious) |
| Entrez Gene ID | 55619 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DOCK10 (GeneCards) |
| Number of variants in DOCK10 in this database | 12 (view all the variants) |
| Full name | dedicator of cytokinesis 10 |
| Band | 2q36.2 |
| Other IDs | Vega: OTTHUMG00000153428 OMIM: 611518 HGNC: HGNC:23479 Ensembl: ENSG00000135905 |
| Other names | ZIZ3, DRIP2, Nbla10300 |
| Summary | This gene encodes a member of the dedicator of cytokinesis protein family. Members of this family are guanosine nucleotide exchange factors for Rho GTPases and defined by the presence of conserved DOCK-homology regions. The encoded protein belongs to the D (or Zizimin) subfamily of DOCK proteins, which also contain an N-terminal pleckstrin homology domain. Alternatively spliced transcript variants that encode different isoforms have been described. [provided by RefSeq, Mar 2014] |
| Individual ID | 29217587.02 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217587 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |