Annotation Detail for AQP10

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Basic Information Top

Gene Symbol:	AQP10 ( AQPA_HUMAN )
Gene Full Name:	aquaporin 10
Band:	1q21.3
Quick Links	Entrez ID:89872; OMIM: 606578; Uniprot ID:AQP10_HUMAN; ENSEMBL ID: ENSG00000143595; HGNC ID: 16029
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:4 results

Location(AA)	Modification
84	NPA 1.
216	NPA 2.

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

RefSeq ID: NM_080429
Location:chr1 152560215-152564423
strand:+

Upstream the gene:10 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
ER	Fulvestrant-MCF7	GSE14664	152550151	152550187	36	10047
Fos	K562	GSE19551	152552014	152552598	584	7910
Gata1	K562	GSE18868	152551993	152552493	500	7973
Gata2	K562	GSE18868	152551988	152552629	641	7907
Jun	K562	GSE19551	152552001	152552547	546	7942
Myc	K562	GSE19551	152552132	152552501	369	7899
Myc	K562	GSE19551	152559828	152560464	636	70
Oct1	Hela	GSE14283	152550115	152550182	67	10067
P300	T30-glioblastoma	GSE21026	152557387	152557955	568	2545
p63	keratinocytes	GSE17611	152559692	152560524	832	108

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	152563689	152563992	303	0
CTCF	CD4	SISSRdata	152563689	152563992	303	0
CTCF	G2	GSE9613	152563674	152564200	526	0
Gata1	K562	GSE18868	152559933	152560510	577	0
Gata2	K562	GSE18868	152559886	152560548	662	0
TFAP2C	MCF7	GSE21234	152563553	152564098	545	0
p130	shRbQuiescent	GSE19898	152563986	152564424	438	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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