| Variant ID | 21086 |
|---|---|
| Entrez Gene ID | 8529 |
| Gene | CYP4F2 (GeneCards) |
| Location | hg19 19:16019228-16019228
hg38 19:15908418-15908418 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| Method | HiSeq X Ten |
| Mutation(HGVS format) | NC_000019.9:g.16019228 T>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 | 59128983 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.2038 |
| CADD Raw score (version 1.3) | 0.219412 (Deleterious) |
| FATHMM raw prediction score | 0.14239 (Tolerated) |
| Deleterious probability by DeFine | 0.0433 (Neutral) |
| Entrez Gene ID | 8529 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP4F2 (GeneCards) |
| Number of variants in CYP4F2 in this database | 3 (view all the variants) |
| Full name | cytochrome P450 family 4 subfamily F member 2 |
| Band | 19p13.12 |
| Other IDs | Vega: OTTHUMG00000185995 OMIM: 604426 HGNC: HGNC:2645 Ensembl: ENSG00000186115 |
| Other names | CPF2 |
| Summary | This gene encodes a member of the cytochrome P450 superfamily of enzymes. The cytochrome P450 proteins are monooxygenases which catalyze many reactions involved in drug metabolism and synthesis of cholesterol, steroids and other lipids. This protein localizes to the endoplasmic reticulum. The enzyme starts the process of inactivating and degrading leukotriene B4, a potent mediator of inflammation. This gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F11, is approximately 16 kb away. [provided by RefSeq, Jul 2008] |
| Individual ID | 29217584.23 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 29217584 |
| Whose mosaic mutation | Female Patient |
| Phenotype | 3 |
| Disease | Xeroderma Pigmentosum (view all the variants in this disease) |
| OMIM ID | 278700 |
| 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; |