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NEBL (nebulette)

Identity

Alias_symbol (synonym)bA165O3.1
Other aliasC10orf113
LASP2
LNEBL
HGNC (Hugo) NEBL
LocusID (NCBI) 10529
Atlas_Id 60854
Location 10p12.31  [Link to chromosome band 10p12]
Location_base_pair Starts at 20779974 and ends at 21174187 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2017)
Data from Atlas, Mitelman, Cosmic Fusion, Fusion Cancer, TCGA fusion databases with official HUGO symbols (see references in chromosomal bands)
ITSN1 (21q22.11) / NEBL (10p12.31)KMT2A (11q23.3) / NEBL (10p12.31)NEBL (10p12.31) / DNAJC1 (10p12.31)
NEBL (10p12.31) / FBXO11 (2p16.3)NEBL (10p12.31) / NEBL (10p12.31)NEBL (10p12.31) / PRL (6p22.3)
NEBL (10p12.31) / RP11-383H13.1 ()NEBL (10p12.31) / SKIDA1 (10p12.31)NEBL (10p12.31) / TMEM26 (10q21.2)
PLCE1 (10q23.33) / NEBL (10p12.31)

Note

Non-annotated gene. Preliminary data : if you are an author
who wish to write a full paper/card on this gene, go to  How to contribute

DNA/RNA

 


External links

Nomenclature
HGNC (Hugo)NEBL   16932
Cards
Entrez_Gene (NCBI)NEBL  10529  nebulette
AliasesC10orf113; LASP2; LNEBL; bA165O3.1
GeneCards (Weizmann)NEBL
Ensembl hg19 (Hinxton)ENSG00000078114 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000078114 [Gene_View]  ENSG00000078114 [Sequence]  chr10:20779974-21174187 [Contig_View]  NEBL [Vega]
ICGC DataPortalENSG00000078114
TCGA cBioPortalNEBL
AceView (NCBI)NEBL
Genatlas (Paris)NEBL
WikiGenes10529
SOURCE (Princeton)NEBL
Genetics Home Reference (NIH)NEBL
Genomic and cartography
GoldenPath hg38 (UCSC)NEBL  -     chr10:20779974-21174187 -  10p12.31   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NEBL  -     10p12.31   [Description]    (hg19-Feb_2009)
GoldenPathNEBL - 10p12.31 [CytoView hg19]  NEBL - 10p12.31 [CytoView hg38]
ImmunoBaseENSG00000078114
Mapping of homologs : NCBINEBL [Mapview hg19]  NEBL [Mapview hg38]
OMIM605491   
Gene and transcription
Genbank (Entrez)AB209311 AI806552 AJ580772 AK096540 AK294926
RefSeq transcript (Entrez)NM_001010896 NM_001173484 NM_001177483 NM_001377322 NM_001377323 NM_001377324 NM_001377325 NM_001377326 NM_001377327 NM_001377328 NM_006393 NM_016365 NM_213569
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NEBL
Alternative Splicing GalleryENSG00000078114
Gene ExpressionNEBL [ NCBI-GEO ]   NEBL [ EBI - ARRAY_EXPRESS ]   NEBL [ SEEK ]   NEBL [ MEM ]
Gene Expression Viewer (FireBrowse)NEBL [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10529
GTEX Portal (Tissue expression)NEBL
Human Protein AtlasENSG00000078114-NEBL [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO76041   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO76041  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO76041
Splice isoforms : SwissVarO76041
PhosPhoSitePlusO76041
Domaine pattern : Prosite (Expaxy)NEBULIN (PS51216)    SH3 (PS50002)   
Domains : Interpro (EBI)Nebulette_SH3    Nebulin_repeat    SH3-like_dom_sf    SH3_domain   
Domain families : Pfam (Sanger)Nebulin (PF00880)    SH3_9 (PF14604)   
Domain families : Pfam (NCBI)pfam00880    pfam14604   
Domain families : Smart (EMBL)NEBU (SM00227)  SH3 (SM00326)  
Conserved Domain (NCBI)NEBL
DMDM Disease mutations10529
Blocks (Seattle)NEBL
PDB (RSDB)4F14   
PDB Europe4F14   
PDB (PDBSum)4F14   
PDB (IMB)4F14   
Structural Biology KnowledgeBase4F14   
SCOP (Structural Classification of Proteins)4F14   
CATH (Classification of proteins structures)4F14   
SuperfamilyO76041
Human Protein Atlas [tissue]ENSG00000078114-NEBL [tissue]
Peptide AtlasO76041
HPRD16573
IPIIPI00872370   IPI00910364   IPI00956362   IPI00418240   IPI00645083   IPI00552618   
Protein Interaction databases
DIP (DOE-UCLA)O76041
IntAct (EBI)O76041
FunCoupENSG00000078114
BioGRIDNEBL
STRING (EMBL)NEBL
ZODIACNEBL
Ontologies - Pathways
QuickGOO76041
Ontology : AmiGOstress fiber  protein binding  tropomyosin binding  cytoskeletal protein binding  cytoskeletal protein binding  structural constituent of muscle  Z disc  Z disc  filamin binding  I band  muscle fiber development  actin filament binding  actin filament binding  extracellular exosome  cardiac muscle thin filament assembly  cardiac muscle thin filament assembly  
Ontology : EGO-EBIstress fiber  protein binding  tropomyosin binding  cytoskeletal protein binding  cytoskeletal protein binding  structural constituent of muscle  Z disc  Z disc  filamin binding  I band  muscle fiber development  actin filament binding  actin filament binding  extracellular exosome  cardiac muscle thin filament assembly  cardiac muscle thin filament assembly  
NDEx NetworkNEBL
Atlas of Cancer Signalling NetworkNEBL
Wikipedia pathwaysNEBL
Orthology - Evolution
OrthoDB10529
GeneTree (enSembl)ENSG00000078114
Phylogenetic Trees/Animal Genes : TreeFamNEBL
HOGENOMO76041
Homologs : HomoloGeneNEBL
Homology/Alignments : Family Browser (UCSC)NEBL
Gene fusions - Rearrangements
Fusion : QuiverNEBL
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNEBL [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NEBL
dbVarNEBL
ClinVarNEBL
1000_GenomesNEBL 
Exome Variant ServerNEBL
ExAC (Exome Aggregation Consortium)ENSG00000078114
GNOMAD BrowserENSG00000078114
Varsome BrowserNEBL
Genetic variants : HAPMAP10529
Genomic Variants (DGV)NEBL [DGVbeta]
DECIPHERNEBL [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNEBL 
Mutations
ICGC Data PortalNEBL 
TCGA Data PortalNEBL 
Broad Tumor PortalNEBL
OASIS PortalNEBL [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNEBL  [overview]  [genome browser]  [tissue]  [distribution]  
Somatic Mutations in Cancer : COSMIC3DNEBL
Mutations and Diseases : HGMDNEBL
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch NEBL
DgiDB (Drug Gene Interaction Database)NEBL
DoCM (Curated mutations)NEBL (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NEBL (select a term)
intoGenNEBL
Cancer3DNEBL(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605491   
Orphanet
DisGeNETNEBL
MedgenNEBL
Genetic Testing Registry NEBL
NextProtO76041 [Medical]
TSGene10529
GENETestsNEBL
Target ValidationNEBL
Huge Navigator NEBL [HugePedia]
snp3D : Map Gene to Disease10529
BioCentury BCIQNEBL
ClinGenNEBL
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10529
Chemical/Pharm GKB GenePA134981177
Clinical trialNEBL
Miscellaneous
canSAR (ICR)NEBL (select the gene name)
DataMed IndexNEBL
Probes
Litterature
PubMed50 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNEBL
EVEXNEBL
GoPubMedNEBL
iHOPNEBL
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Wed Feb 19 17:20:03 CET 2020

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