AutismKB 2.0

Annotation Detail 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
Post Translation Modification Top
Location(AA) Modification
129Phosphoserine (By similarity).
Location(AA) Modifications Resource
129Phosphoserine (By similarity).Swiss-Prot 53.0
Location(AA) Modification Resource
129Phosphoserine(PKG)HMM predict
129Phosphoserine(CAMK2)HMM predict
143N-linkedHMM predict
304O-linkedHMM predict
349Phosphotyrosine(SRC)HMM predict
432Phosphothreonine(CDK)HMM predict
452S-palmitoylHMM predict
483ProlineHMM predict
485TyrosineHMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_000773
  • Location:chr10 135190856-135202609
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
hScc1 BcellGSE12603 135183397 135183778 381 7269
hScc1 CdLSGSE12603 135183397 135183962 565 7177
p130 shRbSenescentGSE19898 135183850 135184027 177 6918
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TAF k562GSE8489 135204272 135204514 242 1784
No data
Validated miRNA targets Top
Micro RNA Name Stem Loop Name The chromosome that miRNA located Publication
hsa-miR-378 hsa-mir-378 5 19945440
hsa-miR-378* hsa-mir-378 5 19945440
No data
Cis-Nats regulation Top

Simple Query:


  (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