Annotation Detail for ATP6V0E2

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Basic Information Top

Gene Symbol:	ATP6V0E2 ( ATP6V0E2L,C7orf32 )
Gene Full Name:	ATPase, H+ transporting V0 subunit e2
Band:	7q36.1
Quick Links	Entrez ID:155066; OMIM: 611019; Uniprot ID:VA0E2_HUMAN; ENSEMBL ID: ENSG00000171130; HGNC ID: 21723
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:4 results

No data

Location(AA)	Modification	Resource
5	Phosphoserine(IKK)	HMM predict
70	N-linked	HMM predict
78	Phenylalanine	HMM predict
79	Phenylalanine	HMM predict

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

RefSeq ID: NM_145230
Location:chr7 149200989-149208718
strand:+

Upstream the gene:0 results
Downstream the gene:8 results
Inside the gene:4 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	149211451	149211682	231	2848
CTCF	CD4	SISSRdata	149211451	149211682	231	2848
CTCF	G2	GSE9613	149209409	149209749	340	861
CTCF	G2	GSE9613	149211353	149212269	916	3093
TFAP2C	MCF7	GSE21234	149218665	149219069	404	10149
hScc1	Bcell	GSE12603	149211353	149212082	729	2999
hScc1	CdLS	GSE12603	149211353	149212050	697	2983
hScc1	G2	GSE9613	149211353	149212122	769	3019

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	149208117	149208392	275	0
H3ac	HepG2	E	149202449	149203786	1337	0
HIF1	Norm	HepG2	149201584	149202382	798	0
p130	Senescent	GSE19898	149201900	149202209	309	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
24832	mRNA	ATP6V0E2L	chr7	149007704	149015434	569	mRNA	LOC401431	chr7	149002508	149008529	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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