Annotation Detail for NPNT

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Basic Information Top

Gene Symbol:	NPNT ( EGFL6L,POEM )
Gene Full Name:	nephronectin
Band:	4q24
Quick Links	Entrez ID:255743; OMIM: 610306; Uniprot ID:NPNT_HUMAN; ENSEMBL ID: ENSG00000168743; HGNC ID: 27405
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:0 results
Predicted PTM Sites by profile HMM from dbPTM:0 results

Location(AA)	Modification
384	Integrin interaction.

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

RefSeq ID: NM_001033047
Location:chr4 107036053-107112275
strand:+

Upstream the gene:1 results
Downstream the gene:0 results
Inside the gene:16 results

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
TFAP2C	MCF7	GSE21234	107035540	107035882	342	343

Transcrip Factors	Experimental Cell	Database	TF Binding Start	TF Binding End	TF Binding Length	The Distance to Gene
CTCF	G2	GSE9613	107035925	107036356	431	0
CTCF	G2	GSE9613	107036858	107037095	237	0
CTCF	G2	GSE9613	107083087	107083225	138	0
FOXA1	MCF7	GSE15244	107098195	107098700	505	0
FOXA1	eGFP	GSE10845	107098195	107098700	505	0
Myc	K562	GSE19551	107104033	107104379	346	0
Oct1	H2O2-Hela	GSE14283	107083978	107084016	38	0
Oct1	Hela	GSE14283	107056465	107056510	45	0
Oct1	Hela	GSE14283	107062832	107062864	32	0
Oct1	Hela	GSE14283	107083937	107084021	84	0
Rb	shRbQuiescent	GSE19898	107095540	107095711	171	0
STAT1	HeLa	GSE12783	107103856	107104727	871	0
TFAP2C	MCF7	GSE21234	107036159	107036696	537	0
TFAP2C	MCF7	GSE21234	107106604	107107019	415	0
hScc1	Bcell	GSE12603	107035692	107036479	787	0
p63	keratinocytes	GSE17611	107036642	107037419	777	0

Validated miRNA targets

miR Walk:2 results
Tarbase V5.0:0 results

Micro RNA Name	Stem Loop Name	The chromosome that miRNA located	Publication
hsa-miR-378	hsa-mir-378	5	19844573
hsa-miR-378*	hsa-mir-378	5	19844573

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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