Annotation Detail for ACAP1

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Basic Information Top

Gene Symbol:	ACAP1 ( CENTB1,KIAA0050 )
Gene Full Name:	ArfGAP with coiled-coil, ankyrin repeat and PH domains 1
Band:	17p13.1
Quick Links	Entrez ID:9744; OMIM: 607763; Uniprot ID:ACAP1_HUMAN; ENSEMBL ID: ENSG00000072818; HGNC ID: 16467
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:3 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
274	N6-acetyllysine.
485	Nitrated tyrosine.
554	Phosphoserine; by PKB.

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

RefSeq ID: NM_014716
Location:chr17 7180596-7195517
strand:+

Upstream the gene:1 results
Downstream the gene:1 results
Inside the gene:9 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	7177578	7177965	387	2825

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
PHF8	Hs68minusFBS	GSE20725	7194939	7196386	1447	145

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	Jurkat	GSE17954	7179945	7182002	2057	0
CTCF	CD4	GSE12889	7190015	7190143	128	0
CTCF	CD4	SISSRdata	7190015	7190143	128	0
CTCF	G2	GSE9613	7185706	7186199	493	0
CTCF	G2	GSE9613	7190150	7190332	182	0
Rb	Quiescent	GSE19898	7193903	7194230	327	0
p130	Quiescent	GSE19898	7194422	7194594	172	0
p130	Senescent	GSE19898	7194405	7194623	218	0
p130	shRbSenescent	GSE19898	7193871	7194262	391	0

Validated miRNA targets

Cis-Nats regulation

Cluster ID	Plue Type	Plus Gene Name	Plus Chromosome	Plus Start	Plus End	Overlap Length	Minus Type	Minus Gene Name	Minus Chromosome	Minus Star	Minus End	Type
10574	mRNA	CENTB1	chr17	7180596	7195518	1209	mRNA		chr17	7189376	7194271	Sense/Antisense (SA) pairs

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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