Variant ID | 29589 |
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Entrez Gene ID | 1553 |
Gene | CYP2A13 (GeneCards) |
Location | hg19 19:41594888-41594888
hg38 19:41088983-41088983 |
Disease | Autism Spectrum Disorders (view all the variants in this disease) |
Method | MiSeq |
Mutation(HGVS format) | NC_000019.9:g.41594888 G>A (Genome Assembly: hg19) |
Exon or Intron | NA |
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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) | 0.00003236 |
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EIGEN score | 0.6088 |
CADD Raw score (version 1.3) | 5.462121 (Deleterious) |
FATHMM raw prediction score | 0.97082 (Tolerated) |
SIFT score | 0 (Deleterious) |
LRT score | 0 |
MutationTaster score | 0.981 (Deleterious) |
MutatioinAssessor score | 3.79 (Deleterious) |
PROVEAN score | -2.31 (Tolerated) |
MetaSVM score | -1.103 (Tolerated) |
MetaLR score | 0.031 (Tolerated) |
MCAP score | 0.008 (Tolerated) |
FitCons score | 0.598 (Highly Significant p < 0.003 ) |
Genomic Evolutionary Rate Profiling (GERP) score | 3.49 |
PhyloP score based on multiple alignment of 100 vertebrates | 3.7 |
PhastCons score based on multiple alignment of 100 vertebrates | 1 |
SiPhy log transformed odds ratio on multiple alignment of 29 mammals | 14.361 |
Deleterious probability by iFish2 | 0.9042 (Deleterious) |
Deleterious probability by DeFine | 0.9527 (Deleterious) |
Entrez Gene ID | 1553 (NCBI Gene) |
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Official Gene Symbol | CYP2A13 (GeneCards) |
Number of variants in CYP2A13 in this database | 2 (view all the variants) |
Full name | cytochrome P450 family 2 subfamily A member 13 |
Band | 19q13.2 |
Other IDs | Vega: OTTHUMG00000182762 OMIM: 608055 HGNC: HGNC:2608 Ensembl: ENSG00000197838 |
Other names | CPAD, CYP2A, CYPIIA13 |
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. Although its endogenous substrate has not been determined, it is known to metabolize 4-(methylnitrosamino)-1-(3-pyridyl)-1-butanone, a major nitrosamine specific to tobacco. This gene is part of a large cluster of cytochrome P450 genes from the CYP2A, CYP2B and CYP2F subfamilies on chromosome 19q. [provided by RefSeq, Jul 2008] |
Individual ID | 28714951.265 (view all the variants in this individual) |
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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 |
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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; |