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NEBL (nebulette)

Identity

Alias_symbol (synonym)LASP2
LNEBL
Other alias
HGNC (Hugo) NEBL
LocusID (NCBI) 10529
Atlas_Id 53292
Location 10p12.31  [Link to chromosome band 10p12]
Location_base_pair Starts at 21068903 and ends at 21463116 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
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)ITSN1 21q22.11 / NEBL 10p12.31NEBL 10p12.31 C10orf140
NEBL 10p12.31 / DNAJC1 10p12.31NEBL 10p12.31 / FBXO11 2p16.3NEBL 10p12.31 / PRL 6p22.3
NEBL 10p12.31 RP11-383H13.1NEBL 10p12.31 / TMEM26 10q21.2

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

 


Other Leukemias implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(10;11)(p12;q23) KMT2A/NEBL


External links

Nomenclature
HGNC (Hugo)NEBL   16932
LRG (Locus Reference Genomic)LRG_411
Cards
Entrez_Gene (NCBI)NEBL  10529  nebulette
AliasesLASP2; LNEBL
GeneCards (Weizmann)NEBL
Ensembl hg19 (Hinxton)ENSG00000078114 [Gene_View]  chr10:21068903-21463116 [Contig_View]  NEBL [Vega]
Ensembl hg38 (Hinxton)ENSG00000078114 [Gene_View]  chr10:21068903-21463116 [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 hg19 (UCSC)NEBL  -     chr10:21068903-21463116 -  10p12.31   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)NEBL  -     10p12.31   [Description]    (hg38-Dec_2013)
EnsemblNEBL - 10p12.31 [CytoView hg19]  NEBL - 10p12.31 [CytoView hg38]
Mapping of homologs : NCBINEBL [Mapview hg19]  NEBL [Mapview hg38]
OMIM605491   
Gene and transcription
Genbank (Entrez)AB209311 AJ580772 AK096540 AK294926 AK295186
RefSeq transcript (Entrez)NM_001173484 NM_006393 NM_016365 NM_213569
RefSeq genomic (Entrez)NC_000010 NC_018921 NG_017092 NT_008705 NW_004929370
Consensus coding sequences : CCDS (NCBI)NEBL
Cluster EST : UnigeneHs.5025 [ NCBI ]
CGAP (NCI)Hs.5025
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]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)10529
GTEX Portal (Tissue expression)NEBL
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)Nebulin_repeat    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 (SRS)4F14   
PDB (PDBSum)4F14   
PDB (IMB)4F14   
PDB (RSDB)4F14   
Structural Biology KnowledgeBase4F14   
SCOP (Structural Classification of Proteins)4F14   
CATH (Classification of proteins structures)4F14   
SuperfamilyO76041
Human Protein AtlasENSG00000078114
Peptide AtlasO76041
HPRD10403
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  filamin binding  I band  actin filament binding  extracellular exosome  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  filamin binding  I band  actin filament binding  extracellular exosome  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
HOVERGENO76041
HOGENOMO76041
Homologs : HomoloGeneNEBL
Homology/Alignments : Family Browser (UCSC)NEBL
Gene fusions - Rearrangements
Fusion : MitelmanITSN1/NEBL [21q22.11/10p12.31]  [t(10;21)(p12;q22)]  
Fusion : MitelmanNEBL/DNAJC1 [10p12.31/10p12.31]  [t(10;10)(p12;p12)]  
Fusion : MitelmanNEBL/FBXO11 [10p12.31/2p16.3]  [t(2;10)(p16;p12)]  
Fusion : MitelmanNEBL/PRL [10p12.31/6p22.3]  [t(6;10)(p22;p12)]  
Fusion : MitelmanNEBL/SKIDA1 [10p12.31/10p12.31]  [t(10;10)(p12;p12)]  
Fusion : MitelmanNEBL/TMEM26 [10p12.31/10q21.2]  [t(10;10)(p12;q21)]  
Fusion: TCGAITSN1 21q22.11 NEBL 10p12.31 LUAD
Fusion: TCGANEBL 10p12.31 C10orf140 BRCA
Fusion: TCGANEBL 10p12.31 DNAJC1 10p12.31 BRCA
Fusion: TCGANEBL 10p12.31 FBXO11 2p16.3 BRCA
Fusion: TCGANEBL 10p12.31 PRL 6p22.3 BLCA
Fusion: TCGANEBL 10p12.31 RP11-383H13.1 LUAD
Fusion: TCGANEBL 10p12.31 TMEM26 10q21.2 BRCA
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)NEBL (select the gene name)
Genetic variants : HAPMAP10529
Genomic Variants (DGV)NEBL [DGVbeta]
DECIPHER (Syndromes)10:21068903-21463116  ENSG00000078114
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]  
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] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM605491   
Orphanet
MedgenNEBL
Genetic Testing Registry NEBL
NextProtO76041 [Medical]
TSGene10529
GENETestsNEBL
Huge Navigator NEBL [HugePedia]
snp3D : Map Gene to Disease10529
BioCentury BCIQNEBL
ClinGenNEBL (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD10529
Chemical/Pharm GKB GenePA134981177
Clinical trialNEBL
Miscellaneous
canSAR (ICR)NEBL (select the gene name)
Probes
Litterature
PubMed38 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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© Atlas of Genetics and Cytogenetics in Oncology and Haematology
indexed on : Tue Mar 14 13:18:31 CET 2017

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