Annotation Detail for EDF1

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Basic Information Top

Gene Symbol:	EDF1 ( EDF-1,MBF1,MGC9058 )
Gene Full Name:	endothelial differentiation-related factor 1
Band:	9q34.3
Quick Links	Entrez ID:8721; OMIM: 605107; Uniprot ID:EDF1_HUMAN; ENSEMBL ID: ENSG00000107223; HGNC ID: 3164
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

TF binding site

Post Translation Modification

PTM Sites from Uniprot:4 results
Experimental PTM Sites from dbPTM:0 results
Predicted PTM Sites by profile HMM from dbPTM:3 results

Location(AA)	Modification
2	N-acetylalanine.
4	Phosphoserine.
88	IQ motif.
123	N6-acetyllysine.

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

RefSeq ID: NM_153200
Location:chr9 138877053-138880558
strand:-

Upstream the gene:8 results
Downstream the gene:0 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	138880381	138881123	742	194
Fos	K562	GSE19551	138880371	138880887	516	71
P300	T30-glioblastoma	GSE21026	138880354	138880952	598	95
PHF8	293T	GSE20725	138880293	138881314	1021	245
PHF8	HeLa	GSE20725	138880239	138882048	1809	585
PHF8	Hs68minusFBS	GSE20725	138880300	138881021	721	102
hScc1	Bcell	GSE12603	138880447	138881015	568	173
p130	Quiescent	GSE19898	138880533	138880825	292	121

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
H3K4me2	HCT116	GSE10453	138879238	138879655	417	0
H3ac	HepG2	E	138879201	138879913	712	0
Myc	hES	GSE17917	138880285	138880723	438	0
PHF8	Hs68plusFBS	GSE20725	138879731	138881369	1638	0
hScc1	Bcell	GSE12603	138877484	138878049	565	0
hScc1	Bcell	GSE12603	138879621	138879913	292	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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