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NBEA (neurobeachin)

Identity

Alias_symbol (synonym)KIAA1544
BCL8B
FLJ10197
LYST2
Other alias
HGNC (Hugo) NBEA
LocusID (NCBI) 26960
Atlas_Id 46498
Location 13q13.3  [Link to chromosome band 13q13]
Location_base_pair Starts at 34942287 and ends at 35672736 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)
CELF2 (10p14) / NBEA (13q13.3)GTF2F2 (13q14.12) / NBEA (13q13.3)NBEA (13q13.3) / NDFIP2 (13q31.1)
NBEA (13q13.3) / RANBP6 (9p24.1)PEX1 (7q21.2) / NBEA (13q13.3)PVT1 (8q24.21) / NBEA (13q13.3)
SMAP1 (6q13) / NBEA (13q13.3)GTF2F2 13q14.12 / NBEA 13q13.3NBEA 13q13.3 / NDFIP2 13q31.1
PEX1 7q21.2 / NBEA 13q13.3

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(8;13)(q24;q13) PVT1/NBEA

Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 3 ]
  t(7;13)(q21;q13) PEX1/NBEA
t(13;13)(q13;q14) GTF2F2/NBEA
t(13;13)(q13;q31) NBEA/NDFIP2

External links

Nomenclature
HGNC (Hugo)NBEA   7648
LRG (Locus Reference Genomic)LRG_602
Cards
Entrez_Gene (NCBI)NBEA  26960  neurobeachin
AliasesBCL8B; LYST2
GeneCards (Weizmann)NBEA
Ensembl hg19 (Hinxton)ENSG00000172915 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000172915 [Gene_View]  chr13:34942287-35672736 [Contig_View]  NBEA [Vega]
ICGC DataPortalENSG00000172915
TCGA cBioPortalNBEA
AceView (NCBI)NBEA
Genatlas (Paris)NBEA
WikiGenes26960
SOURCE (Princeton)NBEA
Genetics Home Reference (NIH)NBEA
Genomic and cartography
GoldenPath hg38 (UCSC)NBEA  -     chr13:34942287-35672736 +  13q13.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NBEA  -     13q13.3   [Description]    (hg19-Feb_2009)
EnsemblNBEA - 13q13.3 [CytoView hg19]  NBEA - 13q13.3 [CytoView hg38]
Mapping of homologs : NCBINBEA [Mapview hg19]  NBEA [Mapview hg38]
OMIM604889   
Gene and transcription
Genbank (Entrez)AB046764 AF072371 AF467288 AK001059 AK091469
RefSeq transcript (Entrez)NM_001204197 NM_015678
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NBEA
Cluster EST : UnigeneHs.491172 [ NCBI ]
CGAP (NCI)Hs.491172
Alternative Splicing GalleryENSG00000172915
Gene ExpressionNBEA [ NCBI-GEO ]   NBEA [ EBI - ARRAY_EXPRESS ]   NBEA [ SEEK ]   NBEA [ MEM ]
Gene Expression Viewer (FireBrowse)NBEA [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)26960
GTEX Portal (Tissue expression)NBEA
Human Protein AtlasENSG00000172915-NBEA [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFP9   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFP9  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFP9
Splice isoforms : SwissVarQ8NFP9
PhosPhoSitePlusQ8NFP9
Domaine pattern : Prosite (Expaxy)BEACH (PS50197)    PH_BEACH (PS51783)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)ARM-type_fold    BEACH_dom    ConA-like_dom    DUF1088    DUF4704    PH-BEACH_dom    PH_dom-like    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)Beach (PF02138)    DUF1088 (PF06469)    DUF4704 (PF15787)    PH_BEACH (PF14844)   
Domain families : Pfam (NCBI)pfam02138    pfam06469    pfam15787    pfam14844   
Domain families : Smart (EMBL)Beach (SM01026)  WD40 (SM00320)  
Conserved Domain (NCBI)NBEA
DMDM Disease mutations26960
Blocks (Seattle)NBEA
PDB (SRS)1MI1   
PDB (PDBSum)1MI1   
PDB (IMB)1MI1   
PDB (RSDB)1MI1   
Structural Biology KnowledgeBase1MI1   
SCOP (Structural Classification of Proteins)1MI1   
CATH (Classification of proteins structures)1MI1   
SuperfamilyQ8NFP9
Human Protein Atlas [tissue]ENSG00000172915-NBEA [tissue]
Peptide AtlasQ8NFP9
HPRD05352
IPIIPI00328195   IPI01012624   IPI01012090   IPI00939641   IPI00964042   IPI00160404   IPI01011585   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFP9
IntAct (EBI)Q8NFP9
FunCoupENSG00000172915
BioGRIDNBEA
STRING (EMBL)NBEA
ZODIACNBEA
Ontologies - Pathways
QuickGOQ8NFP9
Ontology : AmiGOtrans-Golgi network  cytosol  plasma membrane  protein localization  endomembrane system  protein kinase binding  
Ontology : EGO-EBItrans-Golgi network  cytosol  plasma membrane  protein localization  endomembrane system  protein kinase binding  
NDEx NetworkNBEA
Atlas of Cancer Signalling NetworkNBEA
Wikipedia pathwaysNBEA
Orthology - Evolution
OrthoDB26960
GeneTree (enSembl)ENSG00000172915
Phylogenetic Trees/Animal Genes : TreeFamNBEA
HOVERGENQ8NFP9
HOGENOMQ8NFP9
Homologs : HomoloGeneNBEA
Homology/Alignments : Family Browser (UCSC)NBEA
Gene fusions - Rearrangements
Fusion : MitelmanGTF2F2/NBEA [13q14.12/13q13.3]  [t(13;13)(q13;q14)]  
Fusion : MitelmanNBEA/NDFIP2 [13q13.3/13q31.1]  [t(13;13)(q13;q31)]  
Fusion : MitelmanPEX1/NBEA [7q21.2/13q13.3]  [t(7;13)(q21;q13)]  
Fusion : MitelmanPVT1/NBEA [8q24.21/13q13.3]  [t(8;13)(q24;q13)]  
Fusion: TCGA_MDACCGTF2F2 13q14.12 NBEA 13q13.3 BRCA
Fusion: TCGA_MDACCNBEA 13q13.3 NDFIP2 13q31.1 LUAD
Fusion: TCGA_MDACCPEX1 7q21.2 NBEA 13q13.3 BRCA
Fusion PortalGTF2F2 13q14.12 NBEA 13q13.3 BRCA
Fusion PortalNBEA 13q13.3 NDFIP2 13q31.1 LUAD
Fusion PortalPEX1 7q21.2 NBEA 13q13.3 BRCA
Fusion : QuiverNBEA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNBEA [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NBEA
dbVarNBEA
ClinVarNBEA
1000_GenomesNBEA 
Exome Variant ServerNBEA
ExAC (Exome Aggregation Consortium)ENSG00000172915
GNOMAD BrowserENSG00000172915
Genetic variants : HAPMAP26960
Genomic Variants (DGV)NBEA [DGVbeta]
DECIPHERNBEA [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNBEA 
Mutations
ICGC Data PortalNBEA 
TCGA Data PortalNBEA 
Broad Tumor PortalNBEA
OASIS PortalNBEA [ Somatic mutations - Copy number]
Cancer Gene: CensusNBEA 
Somatic Mutations in Cancer : COSMICNBEA  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNBEA
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 NBEA
DgiDB (Drug Gene Interaction Database)NBEA
DoCM (Curated mutations)NBEA (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NBEA (select a term)
intoGenNBEA
Cancer3DNBEA(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM604889   
Orphanet
DisGeNETNBEA
MedgenNBEA
Genetic Testing Registry NBEA
NextProtQ8NFP9 [Medical]
TSGene26960
GENETestsNBEA
Target ValidationNBEA
Huge Navigator NBEA [HugePedia]
snp3D : Map Gene to Disease26960
BioCentury BCIQNBEA
ClinGenNBEA
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD26960
Chemical/Pharm GKB GenePA31454
Clinical trialNBEA
Miscellaneous
canSAR (ICR)NBEA (select the gene name)
Probes
Litterature
PubMed30 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNBEA
EVEXNBEA
GoPubMedNBEA
iHOPNBEA
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 : Wed Feb 28 13:27:00 CET 2018
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