| Variant ID | 18045 |
|---|---|
| Entrez Gene ID | 51339 |
| Gene | DACT1 (GeneCards) |
| Location | hg19 14:59237345-59237345
hg38 14:58770627-58770627 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000014.8:g.59237345 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 | 107349540 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0713 |
| CADD Raw score (version 1.3) | 0.14862 (Deleterious) |
| FATHMM raw prediction score | 0.18817 (Tolerated) |
| Deleterious probability by DeFine | 0.7671 (Deleterious) |
| Entrez Gene ID | 51339 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DACT1 (GeneCards) |
| Number of variants in DACT1 in this database | 3 (view all the variants) |
| Full name | dishevelled binding antagonist of beta catenin 1 |
| Band | 14q23.1 |
| Other IDs | Vega: OTTHUMG00000140324 OMIM: 607861 HGNC: HGNC:17748 Ensembl: ENSG00000165617 |
| Other names | DPR1, TBS2, FRODO, HDPR1, DAPPER, THYEX3, DAPPER1 |
| Summary | The protein encoded by this gene belongs to the dapper family, characterized by the presence of PDZ-binding motif at the C-terminus. It interacts with, and positively regulates dishevelled-mediated signaling pathways during development. Depletion of this mRNA from xenopus embryos resulted in loss of notochord and head structures, and mice lacking this gene died shortly after birth from severe posterior malformations. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012] |
| Individual ID | 29217584.03 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| 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; |