Annotation Detail for AQP9

View Evidences	View Variants	View Annotations

Basic Information Top

Gene Symbol:	AQP9 ( AQP-9,HsT17287,SSC1 )
Gene Full Name:	aquaporin 9
Band:	15q21.3
Quick Links	Entrez ID:366; OMIM: 602914; Uniprot ID:AQP9_HUMAN; ENSEMBL ID: ENSG00000103569; HGNC ID: 643
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:1 results
Predicted PTM Sites by profile HMM from dbPTM:1 results

Location(AA)	Modification
86	NPA 1.
218	NPA 2.
222	Phosphoserine.

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

RefSeq ID: NM_020980
Location:chr15 56217770-56265400
strand:+

Upstream the gene:3 results
Downstream the gene:2 results
Inside the gene:12 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Oct1	H2O2-Hela	GSE14283	56204813	56204853	40	12938
Oct1	Hela	GSE14283	56204814	56204856	42	12936
p63	keratinocytes	GSE17611	56203966	56204700	734	13438

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	56280170	56280564	394	14967
Myc	K562	GSE19551	56282980	56283411	431	17795

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	56262171	56262378	207	0
CTCF	CD4	SISSRdata	56262171	56262378	207	0
CTCF	Hela	GSE12889	56262088	56262352	264	0
CTCF	Jurkat	GSE12889	56262049	56262407	358	0
CTCF	G2	GSE9613	56261943	56262514	571	0
Oct1	H2O2-Hela	GSE14283	56232871	56232907	36	0
Oct1	H2O2-Hela	GSE14283	56248402	56248433	31	0
Oct1	Hela	GSE14283	56248402	56248433	31	0
Rb	shRbSenescence	GSE19898	56228790	56228964	174	0
hScc1	Bcell	GSE12603	56261837	56262514	677	0
hScc1	CdLS	GSE12603	56261696	56262775	1079	0
p130	shRbSenescent	GSE19898	56259401	56259803	402	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
8872	mRNA	AQP9	chr15	56217770	56265401	247	EST		chr15	56217940	56358718	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