Annotation Details for NEBL

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Basic Information Top

Gene Symbol:	NEBL ( FLJ53769,LASP2,LNEBL,MGC119746,MGC119747 )
Gene Full Name:	nebulette
Band:	10p12.31
Quick Links	Entrez ID:10529; OMIM: 605491; Uniprot ID:NEBL_HUMAN; ENSEMBL ID: ENSG00000078114; HGNC ID: 16932
Relate to Another Database:	SFARIGene; denovo-db

Pathways, Diseases and Drugs

AlzGene, PDGene and SZGene

Gene Ontology

Cellular Component:4 results
Molecular Function:7 results
Biological Process:1 results

GO ID	Evidence	Qualifier	GO_term	References
GO:0001725	IDA	-	stress fiber	10470015
GO:0030018	IDA	-	Z disc	10470015
GO:0031674	NAS	-	I band	9733644
GO:0070062	IDA	-	extracellular exosome	19056867

GO ID	Evidence	Qualifier	GO_term	References
GO:0005515	IPI	-	protein binding	11309420
GO:0005523	IPI	-	tropomyosin binding	17987659
GO:0008092	IDA	-	cytoskeletal protein binding	10470015
GO:0008092	IPI	-	cytoskeletal protein binding	17987659
GO:0008307	NAS	-	structural constituent of muscle	9733644
GO:0031005	IPI	-	filamin binding	17987659
GO:0051015	IDA	-	actin filament binding	10470015

Protein-Protein Interaction

BioGRID:4 results
BIND:0 results
HPRD:0 results

Gene Symbol	Interactant	Interaction ID	References	Description
NEBL	ZYX	115784	15004028	Reconstituted Complex; Two-hybrid
NEBL	ZYX	113569	15004028	Reconstituted Complex; Two-hybrid
MYPN	NEBL	115784	11309420	Two-hybrid
MYPN	NEBL	124185	11309420	Two-hybrid

AlzGene, PDGene and SZGene

Animal Model

Mouse:1 results
Fruit Fly:0 results

MGI ID: MGI:1921353
Data Attributes: MGI curated

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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