AutismKB 2.0

Annotation Detail for CES1


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Basic Information Top
Gene Symbol:CES1 ( ACAT,CEH,CES2,HMSE,HMSE1,MGC117365,PCE-1,SES1,TGH )
Gene Full Name: carboxylesterase 1
Band: 16q12.2
Quick LinksEntrez ID:1066; OMIM: 114835; Uniprot ID:EST1_HUMAN; ENSEMBL ID: ENSG00000198848; HGNC ID: 1863
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
79N-linked (GlcNAc...).
Location(AA) Modifications Resource
79N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
22Phosphoserine(MAPK)HMM predict
28PhosphothreonineHMM predict
79N-linkedHMM predict
118Phosphotyrosine(Syk)HMM predict
122Phosphotyrosine(INSR)HMM predict
233Phosphoserine(MAPK)HMM predict
233Phosphoserine(CDC2)HMM predict
245Phosphoserine(CK1)HMM predict
279O-linkedHMM predict
279O-linkedHMM predict
486Phosphoserine(CK2)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001025194
  • Location:chr16 54394266-54424575
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
USF1 HepG2E 54427138 54427805 667 2896
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 54383641 54383681 40 10606
Oct1 HelaGSE14283 54383641 54383678 37 10607
No data
Validated miRNA targets Top
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