Annotation Detail for NDUFA4

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Basic Information Top

Gene Symbol:	NDUFA4 ( CI-9k,CI-MLRQ,FLJ27440,MGC104422,MGC126843,MGC126845,MLRQ )
Gene Full Name:	NADH dehydrogenase (ubiquinone) 1 alpha subcomplex, 4, 9kDa
Band:	7p21.3
Quick Links	Entrez ID:4697; OMIM: 603833; Uniprot ID:NDUA4_HUMAN; ENSEMBL ID: ENSG00000189043; HGNC ID: 7687
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:1 results
Experimental PTM Sites from dbPTM:1 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
55	N6-acetyllysine (By similarity).

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

RefSeq ID: NM_002489
Location:chr7 10939339-10946337
strand:-

Upstream the gene:10 results
Downstream the gene:2 results
Inside the gene:6 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
ETS1	Jurkat	GSE17954	10945933	10947109	1176	184
H3ac	HepG2	E	10946989	10947947	958	1131
Nanog	hES	GSE18292	10957169	10957315	146	10905
PHF8	293T	GSE20725	10945648	10947308	1660	141
PHF8	HeLa	GSE20725	10945608	10947131	1523	32
PHF8	Hs68plusFBS	GSE20725	10945441	10947259	1818	13
TAF	Hela	GSE8489	10945245	10947511	2266	41
TFAP2C	MCF7	GSE21234	10946645	10947102	457	536
hScc1	Bcell	GSE12603	10945760	10946989	1229	37
p130	shRbSenescent	GSE19898	10946736	10946905	169	483

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
Oct1	H2O2-Hela	GSE14283	10934367	10934399	32	4957
TFAP2C	MCF7	GSE21234	10930479	10930972	493	8614

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	10945933	10946310	377	0
H3K4me3	colorectal	cancer	10945391	10946310	919	0
H3ac	HepG2	E	10945098	10946460	1362	0
TAF	k562	GSE8489	10945391	10946598	1207	0
p130	Quiescent	GSE19898	10945889	10946514	625	0
p130	shRbQuiescent	GSE19898	10945752	10946206	454	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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