| Variant ID | 16969 |
|---|---|
| Entrez Gene ID | 5027 |
| Gene | P2RX7 (GeneCards) |
| Location | hg19 12:121582291-121582291
hg38 12:121144488-121144488 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000012.11:g.121582291 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 | 133851895 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.0627 |
| CADD Raw score (version 1.3) | 1.016968 (Deleterious) |
| FATHMM raw prediction score | 0.55184 (Tolerated) |
| Deleterious probability by DeFine | 0.1706 (Neutral) |
| Entrez Gene ID | 5027 (NCBI Gene) |
|---|---|
| Official Gene Symbol | P2RX7 (GeneCards) |
| Number of variants in P2RX7 in this database | 1 (view all the variants) |
| Full name | purinergic receptor P2X 7 |
| Band | 12q24.31 |
| Other IDs | Vega: OTTHUMG00000169153 OMIM: 602566 HGNC: HGNC:8537 Ensembl: ENSG00000089041 |
| Other names | P2X7 |
| Summary | The product of this gene belongs to the family of purinoceptors for ATP. This receptor functions as a ligand-gated ion channel and is responsible for ATP-dependent lysis of macrophages through the formation of membrane pores permeable to large molecules. Activation of this nuclear receptor by ATP in the cytoplasm may be a mechanism by which cellular activity can be coupled to changes in gene expression. Multiple alternatively spliced variants have been identified, most of which fit nonsense-mediated decay (NMD) criteria. [provided by RefSeq, Jul 2010] |
| Individual ID | 29217584.19 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| OMIM ID | 216400 |
| 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; |