| Variant ID | 29448 |
|---|---|
| Entrez Gene ID | 1558 |
| Gene | CYP2C8 (GeneCards) |
| Location | hg19 10:96827403-96827403
hg38 10:95067646-95067646 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | MiSeq |
| Mutation(HGVS format) | NC_000010.10:g.96827403 T>C (Genome Assembly: hg19) |
| 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 | 135534747 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.9483 |
| CADD Raw score (version 1.3) | 0.942561 (Deleterious) |
| FATHMM raw prediction score | 0.04722 (Tolerated) |
| SIFT score | 0.049 (Deleterious) |
| LRT score | 0.032 |
| MutationTaster score | 1 (Tolerated) |
| MutatioinAssessor score | 0.015 (Tolerated) |
| PROVEAN score | -0.63 (Tolerated) |
| MetaSVM score | -0.957 (Tolerated) |
| MetaLR score | 0.126 (Tolerated) |
| MCAP score | 0.005 (Tolerated) |
| FitCons score | 0.554 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | -0.818 |
| PhyloP score based on multiple alignment of 100 vertebrates | -1.597 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 8.497 |
| Deleterious probability by iFish2 | 0.0062 (Neutral) |
| Deleterious probability by DeFine | 0.7236 (Deleterious) |
| Entrez Gene ID | 1558 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP2C8 (GeneCards) |
| Number of variants in CYP2C8 in this database | 2 (view all the variants) |
| Full name | cytochrome P450 family 2 subfamily C member 8 |
| Band | 10q23.33 |
| Other IDs | Vega: OTTHUMG00000018804 OMIM: 601129 HGNC: HGNC:2622 Ensembl: ENSG00000138115 |
| Other names | CPC8, CYPIIC8, CYP2C8DM, MP-12/MP-20 |
| 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 and its expression is induced by phenobarbital. The enzyme is known to metabolize many xenobiotics, including the anticonvulsive drug mephenytoin, benzo(a)pyrene, 7-ethyoxycoumarin, and the anti-cancer drug taxol. This gene is located within a cluster of cytochrome P450 genes on chromosome 10q24. Several transcript variants encoding a few different isoforms have been found for this gene. [provided by RefSeq, Nov 2010] |
| Individual ID | 28714951.124 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28714951 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28714951 |
|---|---|
| Title | Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder |
| Journal | Nat Neurosci |
| Publication date | 2017.07 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 376; |