| Variant ID | 6041 |
|---|---|
| Entrez Gene ID | 100996939 |
| Gene | PYURF (GeneCards) |
| Location | hg19 4:89471215-89471215
hg38 4:88550064-88550064 |
| Disease | Asymptomatic |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000004.11:g.89471215 C>T (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 | 191154276 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2053 |
| CADD Raw score (version 1.3) | 0.178228 (Deleterious) |
| FATHMM raw prediction score | 0.22847 (Tolerated) |
| Deleterious probability by DeFine | 0.0852 (Neutral) |
| Entrez Gene ID | 100996939 (NCBI Gene) |
|---|---|
| Official Gene Symbol | PYURF (GeneCards) |
| Number of variants in PYURF in this database | 1 (view all the variants) |
| Full name | PIGY upstream reading frame |
| Band | 4q22.1 |
| Other IDs | Vega: OTTHUMG00000130949 HGNC: HGNC:44317 Ensembl: ENSG00000145337 |
| Other names | PREY |
| Summary | The product of this gene, which is well-conserved, is encoded by the same bicistronic transcript that encodes phosphatidylinositol glycan anchor biosynthesis, class Y, but the two proteins are unrelated. This gene represents the protein encoded by the upstream open reading frame, while the protein encoded by the downstream open reading frame is represented by GeneID:84992. [provided by RefSeq, Aug 2012] |
| Individual ID | 29217584.03 (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; |