| Variant ID | 15807 |
|---|---|
| Entrez Gene ID | 50507 |
| Gene | NOX4 (GeneCards) |
| Location | hg19 11:89340270-89340270
hg38 11:89607102-89607102 |
| Disease | Cockayne syndrome (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000011.9:g.89340270 A>G (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 | 135006516 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | 0.5787 |
| CADD Raw score (version 1.3) | 0.010565 (Deleterious) |
| FATHMM raw prediction score | 0.48487 (Tolerated) |
| Deleterious probability by DeFine | 0.4926 (Neutral) |
| Entrez Gene ID | 50507 (NCBI Gene) |
|---|---|
| Official Gene Symbol | NOX4 (GeneCards) |
| Number of variants in NOX4 in this database | 4 (view all the variants) |
| Full name | NADPH oxidase 4 |
| Band | 11q14.3 |
| Other IDs | Vega: OTTHUMG00000167298 OMIM: 605261 HGNC: HGNC:7891 Ensembl: ENSG00000086991 |
| Other names | KOX, KOX-1, RENOX |
| Summary | This gene encodes a member of the NOX-family of enzymes that functions as the catalytic subunit the NADPH oxidase complex. The encoded protein is localized to non-phagocytic cells where it acts as an oxygen sensor and catalyzes the reduction of molecular oxygen to various reactive oxygen species (ROS). The ROS generated by this protein have been implicated in numerous biological functions including signal transduction, cell differentiation and tumor cell growth. A pseudogene has been identified on the other arm of chromosome 11. Alternative splicing results in multiple transcript variants.[provided by RefSeq, Jan 2009] |
| Individual ID | 29217584.16 (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; |