| Variant ID | 29878 |
|---|---|
| Entrez Gene ID | 23002 |
| Gene | DAAM1 (GeneCards) |
| Location | hg19 14:59791152-59791152
hg38 14:59324434-59324434 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 |
| Mutation(HGVS format) | NC_000014.8:g.59791152 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| 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) | 0.00006459 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2246384 |
| Variant occurences in COSMIC | 1(urinary_tract) |
| EIGEN score | 1.1963 |
| CADD Raw score (version 1.3) | 1.729876 (Deleterious) |
| FATHMM raw prediction score | 0.94313 (Tolerated) |
| Deleterious probability by DeFine | 0.7603 (Deleterious) |
| Entrez Gene ID | 23002 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DAAM1 (GeneCards) |
| Number of variants in DAAM1 in this database | 7 (view all the variants) |
| Full name | dishevelled associated activator of morphogenesis 1 |
| Band | 14q23.1 |
| Other IDs | Vega: OTTHUMG00000140326 OMIM: 606626 HGNC: HGNC:18142 Ensembl: ENSG00000100592 |
| Other names | None |
| Summary | Cell motility, adhesion, cytokinesis, and other functions of the cell cortex are mediated by reorganization of the actin cytoskeleton and several formin homology (FH) proteins have been associated with these processes. The protein encoded by this gene contains two FH domains and belongs to a novel FH protein subfamily implicated in cell polarity. A key regulator of cytoskeletal architecture, the small GTPase Rho, is activated during development by Wnt/Fz signaling to control cell polarity and movement. The protein encoded by this gene is thought to function as a scaffolding protein for the Wnt-induced assembly of a disheveled (Dvl)-Rho complex. This protein also promotes the nucleation and elongation of new actin filaments and regulates cell growth through the stabilization of microtubules. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jul 2012] |
| Individual ID | 28867142.17 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Female Patient |
| Origin of mosaic mutation in patients | de novo |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28867142 |
|---|---|
| Title | Exonic Mosaic Mutations Contribute Risk for Autism Spectrum Disorder |
| Journal | American Journal of Human Genetics |
| Publication date | 2017.08 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 247; |