AutismKB 2.0

Evidence Details for CYP2E1


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Basic Information Top
Gene Symbol:CYP2E1 ( CPE1,CYP2E,P450-J,P450C2E )
Gene Full Name: cytochrome P450, family 2, subfamily E, polypeptide 1
Band: 10q26.3
Quick LinksEntrez ID:1571; OMIM: 124040; Uniprot ID:CP2E1_HUMAN; ENSEMBL ID: ENSG00000130649; HGNC ID: 2631
Relate to Another Database: SFARIGene; denovo-db
Sequences Top
>CYP2E1|1571|nucleotide
ATGTCTGCCCTCGGAGTCACCGTGGCCCTGCTGGTGTGGGCGGCCTTCCTCCTGCTGGTGTCCATGTGGAGGCAGGTGCACAGCAGCTGGAATCTGCCCCCAGGC
CCTTTCCCGCTTCCCATCATCGGGAACCTCTTCCAGTTGGAATTGAAGAATATTCCCAAGTCCTTCACCCGGTTGGCCCAGCGCTTCGGGCCGGTGTTCACGCTG
TACGTGGGCTCGCAGCGCATGGTGGTGATGCACGGCTACAAGGCGGTGAAGGAAGCGCTGCTGGACTACAAGGACGAGTTCTCGGGCAGAGGCGACCTCCCCGCG
TTCCATGCGCACAGGGACAGGGGAATCATTTTTAATAATGGACCTACCTGGAAGGACATCCGGCGGTTTTCCCTGACCACCCTCCGGAACTATGGGATGGGGAAA
CAGGGCAATGAGAGCCGGATCCAGAGGGAGGCCCACTTCCTGCTGGAAGCACTCAGGAAGACCCAAGGCCAGCCTTTCGACCCCACCTTCCTCATCGGCTGCGCG
CCCTGCAACGTCATAGCCGACATCCTCTTCCGCAAGCATTTTGACTACAATGATGAGAAGTTTCTAAGGCTGATGTATTTGTTTAATGAGAACTTCCACCTACTC
AGCACTCCCTGGCTCCAGCTTTACAATAATTTTCCCAGCTTTCTACACTACTTGCCTGGAAGCCACAGAAAAGTCATAAAAAATGTGGCTGAAGTAAAAGAGTAT
GTGTCTGAAAGGGTGAAGGAGCACCATCAATCTCTGGACCCCAACTGTCCCCGGGACCTCACCGACTGCCTGCTCGTGGAAATGGAGAAGGAAAAGCACAGTGCA
GAGCGCTTGTACACAATGGACGGTATCACCGTGACTGTGGCCGACCTGTTCTTTGCGGGGACAGAGACCACCAGCACAACTCTGAGATATGGGCTCCTGATTCTC
ATGAAATACCCTGAGATCGAAGAGAAGCTCCATGAAGAAATTGACAGGGTGATTGGGCCAAGCCGAATCCCTGCCATCAAGGATAGGCAAGAGATGCCCTACATG
GATGCTGTGGTGCATGAGATTCAGCGGTTCATCACCCTCGTGCCCTCCAACCTGCCCCATGAAGCAACCCGAGACACCATTTTCAGAGGATACCTCATCCCCAAG
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>CYP2E1|1571|protein
MSALGVTVALLVWAAFLLLVSMWRQVHSSWNLPPGPFPLPIIGNLFQLELKNIPKSFTRLAQRFGPVFTLYVGSQRMVVMHGYKAVKEALLDYKDEFSGRGDLPA
FHAHRDRGIIFNNGPTWKDIRRFSLTTLRNYGMGKQGNESRIQREAHFLLEALRKTQGQPFDPTFLIGCAPCNVIADILFRKHFDYNDEKFLRLMYLFNENFHLL
STPWLQLYNNFPSFLHYLPGSHRKVIKNVAEVKEYVSERVKEHHQSLDPNCPRDLTDCLLVEMEKEKHSAERLYTMDGITVTVADLFFAGTETTSTTLRYGLLIL
MKYPEIEEKLHEEIDRVIGPSRIPAIKDRQEMPYMDAVVHEIQRFITLVPSNLPHEATRDTIFRGYLIPKGTVVVPTLDSVLYDNQEFPDPEKFKPEHFLNENGK
FKYSDYFKPFSTGKRVCAGEGLARMELFLLLCAILQHFNLKPLVDPKDIDLSPIHIGFGCIPPRYKLCVIPRS
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Evidence summary Top

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Evidences Syndromic Gene GWAS CNV Linkage Association Expression NGS de novo NGS Mosaic NGS Other Low-Scale Gene Studies Total
Score (No. of Studies) No 0 (0) 0 (3) 0 (0) 0 (0) 1 (1) 0 (0) 0 (1) 0 (0) 0 (0) 1 (5)
Syndromic Autism Gene Top
Genome-Wide Association Studies(By Ethnic Group) Top
CNV Studies Top
Reference Source Method ADI-R ADOS Diagnosis Family Individual
Total Simplex Multiplex Control Affected Control Total
Gregory, 2009 USA aCGHASD - - - - 119 54 173
Pinto, 2010 - SNP microarray, qPCRASD - - - - 996 1287 2283
Levy, 2011 Simons Simplex Collection aCGH--ASD 915 915 - - - - -
Linkage Studies Top
Low Scale Association Studies (by Ethnic Group) Top
Large Scale Expression Studies Top
Microarray Studies: 1
Reference Source Tissue #Subjects
(% Women)
ADI-R ADOS Endo- pheno Diagnosis Normal Controls
(% Women)
Fold Change Up/ Down P/Q value
Voineagu, 2011_1 Unknown 16 frontal cortex(BA9) and 13 temporal cortex(BA41 16
(25.00%)
-autism 16
(6.25%)
0.784333 Down -
  • Platform: Illumina Ref8 v3 microarrays
  • ProbeSet: ILMN_1665437
  • RefSeq_ID/ EST: -
  • GEO_ID: GSE28521
  • Statistic Method: SAM package and unless otherwise specified the significance threshold was FDR,0.05 and fold changes.1.3.
Proteomics Studies:0
Reference Source Tissue Platform #Subjects
(% Women)
ADI-R ADOS Diagnosis Normal Controls(% Women)
No Evidence.
NGS de novo Mutation Studies Top
NGS Mosaic SNV Studies Top
Reference Case Number Family Number Mosaic Number Title
Dou Y, 2017 - 2361 230 Postzygotic single-nucleotide mosaicisms contribute to the etiology of autism spectrum disorder and
NGS Other Studies Top
Low Scale Gene Studies Top

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  (e.g. CHD8)

Syndromic Genes

Non-syndromic Genes

AutismKB Statistics

  • Studies: 1,036
  • Genes: 1,379
  • CNVs/SVs: 5,420
  • SNVs/Indels: 11,669
  • de novo Mutations: 5,669
  • Mosaics: 789
  • Linkage Regions: 172
  • Paper Collected: 6/30/2018
  • Last Update: 8/26/2018