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 Links	Entrez ID:79719; OMIM: NA; Uniprot ID:AAGAB_HUMAN; ENSEMBL ID: ENSG00000103591; HGNC ID: 25662
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:2 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
310	Phosphoserine.
311	Phosphoserine.

Validated transcription factor binding site by ChIP-Chip and ChIP-Seq

RefSeq ID: NM_024666
Location:chr15 65280422-65334037
strand:-

Upstream the gene:3 results
Downstream the gene:1 results
Inside the gene:15 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
PHF8	HeLa	GSE20725	65333474	65334773	1299	86
PHF8	Hs68minusFBS	GSE20725	65333256	65334823	1567	2
hScc1	Bcell	GSE12603	65333682	65334542	860	75

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Nanog	hES	GSE18292	65278631	65279013	382	1601

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
FOXA1	MCF7	GSE15244	65333252	65334356	1104	0
FOXA1	eGFP	GSE10845	65333252	65334356	1104	0
Fos	K562	GSE19551	65325852	65326195	343	0
Gata2	K562	GSE18868	65333385	65334321	936	0
H3K4me2	HCT116	GSE10453	65333252	65333682	430	0
H3K4me3	colorectal	cancer	65333252	65333835	583	0
H3ac	HepG2	E	65333252	65333908	656	0
Oct1	Hela	GSE14283	65295371	65295408	37	0
P300	T30-glioblastoma	GSE21026	65333081	65334619	1538	0
RARA	MCF7	GSE15244	65333252	65334097	845	0
Rb	Quiescent	GSE19898	65333598	65334086	488	0
TAF	Hela	GSE8489	65333252	65333908	656	0
USF2	HepG2	E	65333252	65333803	551	0
hScc1	Bcell	GSE12603	65319541	65319996	455	0
p130	shRbQuiescent	GSE19898	65333320	65334143	823	0

Validated miRNA targets

Cis-Nats regulation

Simple Query:

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

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