| Variant ID | 792 |
|---|---|
| Entrez Gene ID | 57834 |
| Gene | CYP4F11 (GeneCards) |
| Location | hg19 19:16033177-16033177
hg38 19:15922367-15922367 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| Method | HiSeq 2500 |
| Mutation(HGVS format) | NC_000019.9:g.16033177 C>T (Genome Assembly: hg19) |
| Exon or Intron | Exon |
|---|---|
| Position in protein | 328 |
| Amino acid changes in protein | E > K |
| 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 | -0.1314 |
| CADD Raw score (version 1.3) | 3.176549 (Deleterious) |
| FATHMM raw prediction score | 0.88345 (Tolerated) |
| SIFT score | 0.08 (Tolerated) |
| LRT score | 0.002 |
| MutationTaster score | 0.935 (Deleterious) |
| MutatioinAssessor score | 4.225 (Deleterious) |
| PROVEAN score | -1.76 (Tolerated) |
| MetaSVM score | -0.152 (Tolerated) |
| MetaLR score | 0.504 (Deleterious) |
| MCAP score | 0.017 (Tolerated) |
| FitCons score | 0.549 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 1.47 |
| PhyloP score based on multiple alignment of 100 vertebrates | 4.219 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.999 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 7.715 |
| Deleterious probability by iFish2 | 0.0367 (Neutral) |
| Deleterious probability by DeFine | 0.7093 (Deleterious) |
| Entrez Gene ID | 57834 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP4F11 (GeneCards) |
| Number of variants in CYP4F11 in this database | 1 (view all the variants) |
| Full name | cytochrome P450 family 4 subfamily F member 11 |
| Band | 19p13.12 |
| Other IDs | Vega: OTTHUMG00000182294 OMIM: 611517 HGNC: HGNC:13265 Ensembl: ENSG00000171903 |
| Other names | CYPIVF11 |
| Summary | This gene, CYP4F11, 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 gene is part of a cluster of cytochrome P450 genes on chromosome 19. Another member of this family, CYP4F2, is approximately 16 kb away. Alternatively spliced transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008] |
| Individual ID | 27788131.01 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 27788131 |
| Whose mosaic mutation | Normal |
| Phenotype | 1 |
| Disease | Human Skin Fibroblasts (view all the variants in this disease) |
| OMIM ID | 120353 |
| Pubmed ID | 27788131 |
|---|---|
| Title | The Impact of Environmental and Endogenous Damage on Somatic Mutation Load in Human Skin Fibroblasts. |
| Journal | PLoS Genetics |
| Publication date | 2016.10 |
| Disease | Human Skin Fibroblasts |
| Population | Caucasian |
| Number of cases | Male cases: 2; |