| Variant ID | 29697 |
|---|---|
| Entrez Gene ID | 149628 |
| Gene | PYHIN1 (GeneCards) |
| Location | hg19 1:158906752-158906752
hg38 1:158936962-158936962 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000001.10:g.158906752 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 | 249250621 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.932 |
| CADD Raw score (version 1.3) | -0.096331 (Deleterious) |
| FATHMM raw prediction score | 0.01647 (Tolerated) |
| SIFT score | 0.229 (Tolerated) |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 1.42 (Tolerated) |
| PROVEAN score | -3.02 (Deleterious) |
| MetaSVM score | -1.074 (Tolerated) |
| MetaLR score | 0.065 (Tolerated) |
| MCAP score | 0.004 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -1.87 |
| PhyloP score based on multiple alignment of 100 vertebrates | -0.301 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 3.107 |
| Deleterious probability by iFish2 | 0.026 (Neutral) |
| Deleterious probability by DeFine | 0.3354 (Neutral) |
| Entrez Gene ID | 149628 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PYHIN1 (GeneCards) |
| Number of variants in PYHIN1 in this database | 2 (view all the variants) |
| Full name | pyrin and HIN domain family member 1 |
| Band | 1q23.1 |
| Other IDs | Vega: OTTHUMG00000037109 OMIM: 612677 HGNC: HGNC:28894 Ensembl: ENSG00000163564 |
| Other names | IFIX |
| Summary | The protein encoded by this gene belongs to the HIN-200 family of interferon-inducible proteins that share a 200-amino acid signature motif at their C-termini. HIN200 proteins are primarily nuclear and are involved in transcriptional regulation of genes important for cell cycle control, differentiation, and apoptosis. Downregulation of this gene is associated with breast cancer. This protein acts as a tumor suppressor by promoting ubiquitination and subsequent degradation of MDM2, which leads to stabilization of p53/TP53. Alternatively spliced transcript variants encoding different isoforms have been described for this gene. [provided by RefSeq, Aug 2011] |
| Individual ID | 28714951.373 (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; |