AutismKB 2.0

Annotation Detail for AES


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Basic Information Top
Gene Symbol:AES ( AES-1,AES-2,ESP1,GRG,GRG5,TLE5 )
Gene Full Name: amino-terminal enhancer of split
Band: 19p13.3
Quick LinksEntrez ID:166; OMIM: 600188; Uniprot ID:AES_HUMAN; ENSEMBL ID: ENSG00000104964; HGNC ID: 307
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
No data
No data
Location(AA) Modification Resource
9Phosphoserine(CK1)HMM predict
52Phosphoserine(CK2)HMM predict
61SulfotyrosineHMM predict
97Phosphoserine(ATM)HMM predict
143Phosphothreonine(MAPK)HMM predict
153O-linkedHMM predict
171Phosphoserine(ATM)HMM predict
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_001130
  • Location:chr19 3003907-3013370
  • strand:-
No data
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
CTCF G2GSE9613 2996237 2996505 268 7537
Nanog hESGSE18292 2998125 2998364 239 5663
hScc1 BcellGSE12603 2998335 2998516 181 5482
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
TFAP2C MCF7GSE21234 3006815 3007478 663 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