| Variant ID | 29597 |
|---|---|
| Entrez Gene ID | 440822 |
| Gene | PIWIL3 (GeneCards) |
| Location | hg19 22:25123995-25123995
hg38 22:24728028-24728028 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000022.10:g.25123995 A>G (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 | 51304566 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.3135 |
| CADD Raw score (version 1.3) | 4.184979 (Deleterious) |
| FATHMM raw prediction score | 0.81937 (Tolerated) |
| SIFT score | 0 (Deleterious) |
| LRT score | 0 (Deleterious) |
| MutationTaster score | 1 (Deleterious) |
| MutatioinAssessor score | 2.305 (Deleterious) |
| PROVEAN score | -4.09 (Deleterious) |
| MetaSVM score | -0.899 (Tolerated) |
| MetaLR score | 0.13 (Tolerated) |
| MCAP score | 0.003 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 2.8 |
| PhyloP score based on multiple alignment of 100 vertebrates | 6.757 |
| PhastCons score based on multiple alignment of 100 vertebrates | 1 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 9.065 |
| Deleterious probability by iFish2 | 0.2684 (Neutral) |
| Deleterious probability by DeFine | 0.8293 (Deleterious) |
| Entrez Gene ID | 440822 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PIWIL3 (GeneCards) |
| Number of variants in PIWIL3 in this database | 1 (view all the variants) |
| Full name | piwi like RNA-mediated gene silencing 3 |
| Band | 22q11.23 |
| Other IDs | Vega: OTTHUMG00000150788 OMIM: 610314 HGNC: HGNC:18443 Ensembl: ENSG00000184571 |
| Other names | HIWI3 |
| Summary | This gene encodes a member of the PIWI subfamily of Argonaute family proteins. This subfamily of proteins contains a PAZ domain, found in proteins involved in RNA-mediated gene silencing, and a C-terminal Piwi domain. The encoded protein is thought to function in maintenance of germline cells. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011] |
| Individual ID | 28714951.273 (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; |