| Variant ID | 29501 |
|---|---|
| Entrez Gene ID | 57728 |
| Gene | WDR19 (GeneCards) |
| Location | hg19 4:39217743-39217743
hg38 4:39216123-39216123 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000004.11:g.39217743 G>A (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5683 |
| CADD Raw score (version 1.3) | 5.072842 (Deleterious) |
| FATHMM raw prediction score | 0.99188 (Tolerated) |
| SIFT score | 0.165 (Tolerated) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.38 (Deleterious) |
| PROVEAN score | -1.5 (Tolerated) |
| MetaSVM score | 0.792 (Deleterious) |
| MetaLR score | 0.863 (Deleterious) |
| MCAP score | 0.273 (Deleterious) |
| FitCons score | 0.693 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 5.46 |
| PhyloP score based on multiple alignment of 100 vertebrates | 9.684 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 19.317 |
| Deleterious probability by iFish2 | 0.9013 (Deleterious) |
| Deleterious probability by DeFine | 0.9383 (Deleterious) |
| Entrez Gene ID | 57728 (NCBI Gene) |
|---|---|
| Official Gene Symbol | WDR19 (GeneCards) |
| Number of variants in WDR19 in this database | 1 (view all the variants) |
| Full name | WD repeat domain 19 |
| Band | 4p14 |
| Other IDs | Vega: OTTHUMG00000160466 OMIM: 608151 HGNC: HGNC:18340 Ensembl: ENSG00000157796 |
| Other names | ATD5, CED4, DYF-2, ORF26, Oseg6, PWDMP, SRTD5, IFT144, NPHP13 |
| Summary | The protein encoded by this gene is a member of the WD (tryptophan-aspartic acid) repeat family, which is a large family of structurally-related proteins known to participate in a wide range of cellular processes. Each WD repeat typically contains about 40 amino acids that are usually bracketed by glycine-histidine and tryptophan-aspartic acid (WD) dipeptides. This protein contains six WD repeats, three transmembrane domains, and a clathrin heavy-chain repeat. Mutations in this gene have been described in individuals with a wide range of disorders affecting function of the cilium. These disorders are known as ciliopathies, and include Jeune syndrome, Sensenbrenner syndromes, Senior-Loken syndrome, combined or isolated nephronophthisis (NPHP), and retinitis pigmentosa (RP). Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Dec 2015] |
| Individual ID | 28714951.177 (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; |