| Variant ID | 1590 |
|---|---|
| Entrez Gene ID | 149628 |
| Gene | PYHIN1 (GeneCards) |
| Location | hg19 1:158921030-158921030
hg38 1:158951240-158951240 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000001.10:g.158921030 G>A (Genome Assembly: GRCh37) |
| 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 | -0.2009 |
| CADD Raw score (version 1.3) | 0.269798 (Deleterious) |
| FATHMM raw prediction score | 0.11095 (Tolerated) |
| Deleterious probability by DeFine | 0.0842 (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 | 29217584.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Asymptomatic |
| OMIM ID |
| Pubmed ID | 29217584 |
|---|---|
| Title | Aging and neurodegeneration are associated with increased mutations in single human neurons. |
| Journal | Science |
| Publication date | 2018.02 |
| Disease | Cockayne syndrome Xeroderma Pigmentosum |
| Number of cases | Male cases: 3; Female cases: 6; cases of unknown sex: 15; |