Annotation Detail for AP1S2

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	AP1S2 ( MGC:1902,MRX59,SIGMA1B )
Gene Full Name:	adaptor-related protein complex 1, sigma 2 subunit
Band:	Xp22.2
Quick Links	Entrez ID:8905; OMIM: 300629; Uniprot ID:AP1S2_HUMAN; ENSEMBL ID: ENSG00000182287; HGNC ID: 560
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

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

No data

Location(AA)	Modification	Resource
31	Phosphothreonine(PKA)	HMM predict
146	Phosphothreonine(CDC2)	HMM predict
146	Phosphothreonine(MAPK)	HMM predict

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

RefSeq ID: NM_003916
Location:chrX 15753850-15783020
strand:-

Upstream the gene:4 results
Downstream the gene:0 results
Inside the gene:7 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
PHF8	293T	GSE20725	15782816	15783638	822	207
USF1	HepG2	E	15783203	15784883	1680	1023
p130	Senescent	GSE19898	15782860	15783268	408	44
p130	shRbSenescent	GSE19898	15782836	15783535	699	165

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	15782282	15782462	180	0
CTCF	CD4	SISSRdata	15782282	15782462	180	0
Oct1	Hela	GSE14283	15771387	15771416	29	0
PAX3-FKHR	Rh4	GSE19063	15762567	15763601	1034	0
Rb	shRbSenescence	GSE19898	15782882	15783146	264	0
hScc1	Bcell	GSE12603	15781986	15783725	1739	0
hScc1	CdLS	GSE12603	15781986	15782512	526	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
27397	EST		chrX	15603977	15604571	594	mRNA	AP1S2	chrX	15603585	15632757	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

Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved