| Variant ID | 1248 |
|---|---|
| Entrez Gene ID | 26094 |
| Gene | DCAF4 (GeneCards) |
| Location | hg19 14:73418524-73418524
hg38 14:72951816-72951816 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | NextSeq500 v2 |
| Mutation(HGVS format) | NC_000014.8:g.73418524_73418524 del (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 | NM_015604.3 |
| mRNA length | 2568 |
| Reference length | 107349540 |
| Deleterious probability by DeFine | 0.9474 (Deleterious) |
|---|
| Entrez Gene ID | 26094 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCAF4 (GeneCards) |
| Number of variants in DCAF4 in this database | 2 (view all the variants) |
| Full name | DDB1 and CUL4 associated factor 4 |
| Band | 14q24.2 |
| Other IDs | Vega: OTTHUMG00000160542 OMIM: 616372 HGNC: HGNC:20229 Ensembl: ENSG00000119599 |
| Other names | WDR21, WDR21A |
| Summary | This gene encodes a WD repeat-containing protein that interacts with the Cul4-Ddb1 E3 ligase macromolecular complex. Multiple alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2009] |
| Individual ID | 28867142.89 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28867142 |
| Whose mosaic mutation | Male 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; |