| Variant ID | 29542 |
|---|---|
| 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 | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.73418524 C>T (Genome Assembly: hg19) |
| 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 |
|---|---|
| Variant IDs in COSMIC (version 89) | 2136780 |
| Variant occurences in COSMIC | 2(large_intestine) |
| EIGEN score | 0.4419 |
| CADD Raw score (version 1.3) | 1.868386 (Deleterious) |
| FATHMM raw prediction score | 0.19463 (Tolerated) |
| Deleterious probability by DeFine | 0.9036 (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 | 28714951.218 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |