Overview

Variant ID 29589
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)

Other information

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

Annotations and predictions

MAF in gnomAD genome (version 2.0.1) 0.00003236
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)
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 #1

Individual ID 28714951.265 (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

Publication #1: 28714951

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;