AutismKB 2.0

Annotation Detail for AREG


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:AREG ( AR,AREGB,CRDGF,MGC13647,SDGF )
Gene Full Name: amphiregulin
Band: 4q13.3
Quick LinksEntrez ID:374; OMIM: 104640; Uniprot ID:AREG_HUMAN; ENSEMBL ID: ENSG00000109321; HGNC ID: 651
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
30N-linked (GlcNAc...) (Potential).
113N-linked (GlcNAc...) (Potential).
119N-linked (GlcNAc...).
Location(AA) Modifications Resource
30N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
113N-linked (GlcNAc...) (Potential).Swiss-Prot 53.0
119N-linked (GlcNAc...).Swiss-Prot 53.0
Location(AA) Modification Resource
30N-linkedHMM predict
41Phosphoserine(CDK)HMM predict
41Phosphoserine(ATM)HMM predict
59Phosphoserine(ATM)HMM predict
67O-linkedHMM predict
73O-linkedHMM predict
76Phosphoserine(CK1)HMM predict
81SulfotyrosineHMM predict
83SulfotyrosineHMM predict
87Phosphotyrosine(INSR)HMM predict
87Phosphotyrosine(Syk)HMM predict
113N-linkedHMM predict
119N-linkedHMM predict
197Phosphoserine(CK1)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001657
  • Location:chr4 75529716-75539586
  • strand:+
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Oct1 H2O2-HelaGSE14283 75524547 75524580 33 5153
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
ER MCF7GSE19013 75557699 75558441 742 18484
Nanog hESGSE18292 75718621 75718839 218 9225
Rb GrowingGSE19898 75719205 75719438 233 9816
TFAP2C MCF7GSE21234 75555857 75556311 454 16498
TFAP2C MCF7GSE21234 75724177 75724503 326 14835
TFAP2C MCF7GSE21234 75727938 75728280 342 18604
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 75529586 75530326 740 0
ER E2-MCF7GSE14664 75700683 75700715 32 0
hScc1 BcellGSE12603 75529681 75530057 376 0
hScc1 G2GSE9613 75529715 75530326 611 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