AutismKB 2.0

Annotation Detail for AAGAB


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Basic Information Top
Gene Symbol:AAGAB ( DKFZp667D2317,DKFZp686G08119,FLJ11506,p34 )
Gene Full Name: alpha- and gamma-adaptin binding protein
Band: 15q23
Quick LinksEntrez ID:79719; OMIM: NA; Uniprot ID:AAGAB_HUMAN; ENSEMBL ID: ENSG00000103591; HGNC ID: 25662
Relate to Another Database: SFARIGene; denovo-db
Post Translation Modification Top
Location(AA) Modification
310Phosphoserine.
311Phosphoserine.
Location(AA) Modifications Resource
No data
Validated transcription factor binding site by ChIP-Chip and ChIP-Seq
  • RefSeq ID: NM_024666
  • Location:chr15 65280422-65334037
  • strand:-
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
PHF8 HeLaGSE20725 65333474 65334773 1299 86
PHF8 Hs68minusFBSGSE20725 65333256 65334823 1567 2
hScc1 BcellGSE12603 65333682 65334542 860 75
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
Nanog hESGSE18292 65278631 65279013 382 1601
Transcrip Factors Experimental Cell Database TF Binding Start TF Binding End TF Binding Length The Distance to Gene
FOXA1 MCF7GSE15244 65333252 65334356 1104 0
FOXA1 eGFPGSE10845 65333252 65334356 1104 0
Fos K562GSE19551 65325852 65326195 343 0
Gata2 K562GSE18868 65333385 65334321 936 0
H3K4me2 HCT116GSE10453 65333252 65333682 430 0
H3K4me3 colorectalcancer 65333252 65333835 583 0
H3ac HepG2E 65333252 65333908 656 0
Oct1 HelaGSE14283 65295371 65295408 37 0
P300 T30-glioblastomaGSE21026 65333081 65334619 1538 0
RARA MCF7GSE15244 65333252 65334097 845 0
Rb QuiescentGSE19898 65333598 65334086 488 0
TAF HelaGSE8489 65333252 65333908 656 0
USF2 HepG2E 65333252 65333803 551 0
hScc1 BcellGSE12603 65319541 65319996 455 0
p130 shRbQuiescentGSE19898 65333320 65334143 823 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