Annotation Detail for ETFB

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Basic Information Top

Gene Symbol:	ETFB ( MADD )
Gene Full Name:	electron-transfer-flavoprotein, beta polypeptide
Band:	19q13.41
Quick Links	Entrez ID:2109; OMIM: 130410; Uniprot ID:ETFB_HUMAN; ENSEMBL ID: ENSG00000105379; HGNC ID: 3482
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:2 results

Location(AA)	Modification
2	N-acetylalanine (By similarity).

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

RefSeq ID: NM_001014763
Location:chr19 56540220-56549907
strand:-

Upstream the gene:0 results
Downstream the gene:13 results
Inside the gene:7 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	CD4	GSE12889	56522833	56522994	161	17307
CTCF	CD4	GSE12889	56533902	56534068	166	6236
CTCF	CD4	SISSRdata	56522833	56522994	161	17307
CTCF	CD4	SISSRdata	56533902	56534068	166	6236
CTCF	G2	GSE9613	56533680	56534124	444	6319
CTCF	G2	GSE9613	56534935	56535608	673	4949
Fos	K562	GSE19551	56528811	56529336	525	11147
P300	T30-glioblastoma	GSE21026	56535033	56535480	447	4964
Rb	Growing	GSE19898	56533898	56534011	113	6266
Rb	Senescent	GSE19898	56534197	56534423	226	5911
hScc1	Bcell	GSE12603	56533553	56534238	685	6325
hScc1	Bcell	GSE12603	56534707	56536370	1663	4682
hScc1	CdLS	GSE12603	56533680	56534238	558	6262

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CBP	T30-glioblastoma	GSE21026	56545458	56546411	953	0
H3ac	HepG2	E	56540675	56541413	738	0
H3ac	HepG2	E	56546559	56547648	1089	0
P300	T30-glioblastoma	GSE21026	56545395	56546430	1035	0
RARA	MCF7	GSE15244	56540712	56541378	666	0
USF1	HepG2	E	56546559	56547648	1089	0
hScc1	Bcell	GSE12603	56547521	56547648	127	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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