| Variant ID | 29244 |
|---|---|
| Entrez Gene ID | 64816 |
| Gene | CYP3A43 (GeneCards) |
| Location | hg19 7:99457566-99457566
hg38 7:99859943-99859943 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| Method | PASM |
| Mutation(HGVS format) | NC_000007.13:g.99457566 G>A (Genome Assembly: GRCh37) |
| Exon or Intron | Exon |
|---|---|
| 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 | 159138663 |
| MAF in gnomAD genome (version 2.0.1) | 0 |
|---|---|
| EIGEN score | -0.4877 |
| CADD Raw score (version 1.3) | 1.711687 (Deleterious) |
| FATHMM raw prediction score | 0.60212 (Tolerated) |
| SIFT score | 0.252 (Tolerated) |
| LRT score | 0.002 (Tolerated) |
| MutationTaster score | 0.905 (Deleterious) |
| MutatioinAssessor score | 0.65 (Tolerated) |
| PROVEAN score | -0.53 (Tolerated) |
| MetaSVM score | -0.875 (Tolerated) |
| MetaLR score | 0.208 (Tolerated) |
| MCAP score | 0.012 (Tolerated) |
| FitCons score | 0.487 (Highly Significant p < 0.003 ) |
| Genomic Evolutionary Rate Profiling (GERP) score | 0.604 |
| PhyloP score based on multiple alignment of 100 vertebrates | 2.1 |
| PhastCons score based on multiple alignment of 100 vertebrates | 0.99 |
| SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 6.357 |
| Deleterious probability by iFish2 | 0.0087 (Neutral) |
| Deleterious probability by DeFine | 0.7169 (Deleterious) |
| Entrez Gene ID | 64816 (NCBI Gene) |
|---|---|
| Official Gene Symbol | CYP3A43 (GeneCards) |
| Number of variants in CYP3A43 in this database | 1 (view all the variants) |
| Full name | cytochrome P450 family 3 subfamily A member 43 |
| Band | 7q22.1 |
| Other IDs | Vega: OTTHUMG00000156498 OMIM: 606534 HGNC: HGNC:17450 Ensembl: ENSG00000021461 |
| Other names | None |
| 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. The encoded protein has a low level of testosterone hydroxylase activity, and may play a role in aging mechanisms and cancer progression. This gene is part of a cluster of cytochrome P450 genes on chromosome 7q21.1. Alternate splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2013] |
| Individual ID | 28503910.121 (view all the variants in this individual) |
|---|---|
| Pubmed ID | 28503910 |
| Whose mosaic mutation | Patient |
| Phenotype | 3 |
| Disease | Autism Spectrum Disorders (view all the variants in this disease) |
| OMIM ID | 209850 |
| Pubmed ID | 28503910 |
|---|---|
| Title | Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and autistic traits and the origin of mutations |
| Journal | Human Mutation |
| Publication date | 2017.05 |
| Disease | Autism Spectrum Disorders |
| Incidence | 0.01 |
| Number of cases | cases of unknown sex: 215; |