| Variant ID | 29648 |
|---|---|
| Entrez Gene ID | 8816 |
| Gene | DCAF5 (GeneCards) |
| Location | hg19 14:69589039-69589039
hg38 14:69122322-69122322 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000014.8:g.69589039 G>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 |
|---|---|
| EIGEN score | -0.3552 |
| CADD Raw score (version 1.3) | 1.568512 (Deleterious) |
| FATHMM raw prediction score | 0.851 (Tolerated) |
| SIFT score | 0.29 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 0.727 (Deleterious) |
| MutatioinAssessor score | -0.95 (Tolerated) |
| PROVEAN score | -0.76 (Tolerated) |
| MetaSVM score | -0.924 (Tolerated) |
| MetaLR score | 0.092 (Tolerated) |
| MCAP score | 0.007 (Tolerated) |
| FitCons score | 0.706 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.53 |
| PhyloP score based on multiple alignment of 100 vertebrates | 3.322 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 13.35 |
| Deleterious probability by iFish2 | 0.0048 (Neutral) |
| Deleterious probability by DeFine | 0.952 (Deleterious) |
| Entrez Gene ID | 8816 (NCBI Gene) |
|---|---|
| Official Gene Symbol | DCAF5 (GeneCards) |
| Number of variants in DCAF5 in this database | 2 (view all the variants) |
| Full name | DDB1 and CUL4 associated factor 5 |
| Band | 14q24.1 |
| Other IDs | Vega: OTTHUMG00000171699 OMIM: 603812 HGNC: HGNC:20224 Ensembl: ENSG00000139990 |
| Other names | BCRG2, BCRP2, WDR22, D14S1461E |
| Summary | None |
| Individual ID | 28714951.324 (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; |