AutismKB 2.0

Annotation Detail for EPCAM


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Basic Information Top
Gene Symbol:EPCAM ( DIAR5,EGP-2,EGP314,EGP40,ESA,GA733-2,HNPCC8,KS1/4,KSA,M4S1,MIC18,MK-1,TACSTD1,TROP1 )
Gene Full Name: epithelial cell adhesion molecule
Band: 2p21
Quick LinksEntrez ID:4072; OMIM: 185535; Uniprot ID:EPCAM_HUMAN; ENSEMBL ID: ENSG00000119888; HGNC ID: 11529
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
24Pyrrolidone carboxylic acid (Probable).
74N-linked (GlcNAc...); partial.
111N-linked (GlcNAc...).
198N-linked (GlcNAc...).
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_002354
  • Location:chr2 47449970-47467660
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 47435245 47435389 144 14654
H3ac HepG2E 47434602 47435281 679 15029
Oct1 H2O2-HelaGSE14283 47446591 47446631 40 3360
Oct1 HelaGSE14283 47444252 47444288 36 5701
Oct1 HelaGSE14283 47446601 47446631 30 3355
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF CD4GSE12889 47469011 47469201 190 1446
CTCF CD4SISSRdata 47469011 47469201 190 1446
Nanog hESGSE18292 47469036 47469228 192 1472
Oct1 HelaGSE14283 47470501 47470549 48 2865
Sox2 hESGSE18292 47469036 47469209 173 1462
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CBP T0-glioblastomaGSE21026 47464088 47464496 408 0
CTCF G2GSE9613 47449843 47450667 824 0
hScc1 BcellGSE12603 47450415 47450667 252 0
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