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NBEAL1 (neurobeachin like 1)

Identity

Alias_namesALS2CR17
ALS2CR16
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 17
amyotrophic lateral sclerosis 2 (juvenile) chromosome region, candidate 16
neurobeachin-like 1
Alias_symbol (synonym)MGC164581
Other aliasA530083I02Rik
HGNC (Hugo) NBEAL1
LocusID (NCBI) 65065
Atlas_Id 53955
Location 2q33.2  [Link to chromosome band 2q33]
Location_base_pair Starts at 203014879 and ends at 203217994 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
APPL1 (3p14.3) / NBEAL1 (2q33.2)NBEAL1 (2q33.2) / CARF (2q33.2)NBEAL1 (2q33.2) / MEN1 (11q13.1)
NBEAL1 (2q33.2) / TANK (2q24.2)PACS1 (11q13.1) / NBEAL1 (2q33.2)NBEAL1 2q33.2 / TANK 2q24.2

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

 


External links

Nomenclature
HGNC (Hugo)NBEAL1   20681
Cards
Entrez_Gene (NCBI)NBEAL1  65065  neurobeachin like 1
AliasesA530083I02Rik; ALS2CR16; ALS2CR17
GeneCards (Weizmann)NBEAL1
Ensembl hg19 (Hinxton)ENSG00000144426 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000144426 [Gene_View]  chr2:203014879-203217994 [Contig_View]  NBEAL1 [Vega]
ICGC DataPortalENSG00000144426
TCGA cBioPortalNBEAL1
AceView (NCBI)NBEAL1
Genatlas (Paris)NBEAL1
WikiGenes65065
SOURCE (Princeton)NBEAL1
Genetics Home Reference (NIH)NBEAL1
Genomic and cartography
GoldenPath hg38 (UCSC)NBEAL1  -     chr2:203014879-203217994 +  2q33.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)NBEAL1  -     2q33.2   [Description]    (hg19-Feb_2009)
EnsemblNBEAL1 - 2q33.2 [CytoView hg19]  NBEAL1 - 2q33.2 [CytoView hg38]
Mapping of homologs : NCBINBEAL1 [Mapview hg19]  NBEAL1 [Mapview hg38]
OMIM609816   
Gene and transcription
Genbank (Entrez)AB053318 AB053319 AK127772 AK128636 AK130065
RefSeq transcript (Entrez)NM_001099273 NM_001114132 NM_198945 NM_205543
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)NBEAL1
Cluster EST : UnigeneHs.648846 [ NCBI ]
CGAP (NCI)Hs.648846
Alternative Splicing GalleryENSG00000144426
Gene ExpressionNBEAL1 [ NCBI-GEO ]   NBEAL1 [ EBI - ARRAY_EXPRESS ]   NBEAL1 [ SEEK ]   NBEAL1 [ MEM ]
Gene Expression Viewer (FireBrowse)NBEAL1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)65065
GTEX Portal (Tissue expression)NBEAL1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ6ZS30   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ6ZS30  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ6ZS30
Splice isoforms : SwissVarQ6ZS30
PhosPhoSitePlusQ6ZS30
Domaine pattern : Prosite (Expaxy)BEACH (PS50197)    PH_BEACH (PS51783)    WD_REPEATS_2 (PS50082)    WD_REPEATS_REGION (PS50294)   
Domains : Interpro (EBI)ARM-type_fold    BEACH_dom    ConA-like_dom    DUF4704    PH-BEACH_dom    PH_dom-like    WD40/YVTN_repeat-like_dom    WD40_repeat    WD40_repeat_dom   
Domain families : Pfam (Sanger)Beach (PF02138)    DUF4704 (PF15787)    PH_BEACH (PF14844)    WD40 (PF00400)   
Domain families : Pfam (NCBI)pfam02138    pfam15787    pfam14844    pfam00400   
Domain families : Smart (EMBL)Beach (SM01026)  WD40 (SM00320)  
Conserved Domain (NCBI)NBEAL1
DMDM Disease mutations65065
Blocks (Seattle)NBEAL1
SuperfamilyQ6ZS30
Human Protein AtlasENSG00000144426
Peptide AtlasQ6ZS30
HPRD14811
IPIIPI00395569   IPI00418653   IPI00414668   IPI00925136   
Protein Interaction databases
DIP (DOE-UCLA)Q6ZS30
IntAct (EBI)Q6ZS30
FunCoupENSG00000144426
BioGRIDNBEAL1
STRING (EMBL)NBEAL1
ZODIACNBEAL1
Ontologies - Pathways
QuickGOQ6ZS30
Ontology : AmiGO
Ontology : EGO-EBI
NDEx NetworkNBEAL1
Atlas of Cancer Signalling NetworkNBEAL1
Wikipedia pathwaysNBEAL1
Orthology - Evolution
OrthoDB65065
GeneTree (enSembl)ENSG00000144426
Phylogenetic Trees/Animal Genes : TreeFamNBEAL1
HOVERGENQ6ZS30
HOGENOMQ6ZS30
Homologs : HomoloGeneNBEAL1
Homology/Alignments : Family Browser (UCSC)NBEAL1
Gene fusions - Rearrangements
Fusion : MitelmanNBEAL1/TANK [2q33.2/2q24.2]  
Fusion: TCGANBEAL1 2q33.2 TANK 2q24.2 BRCA
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerNBEAL1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)NBEAL1
dbVarNBEAL1
ClinVarNBEAL1
1000_GenomesNBEAL1 
Exome Variant ServerNBEAL1
ExAC (Exome Aggregation Consortium)NBEAL1 (select the gene name)
Genetic variants : HAPMAP65065
Genomic Variants (DGV)NBEAL1 [DGVbeta]
DECIPHERNBEAL1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisNBEAL1 
Mutations
ICGC Data PortalNBEAL1 
TCGA Data PortalNBEAL1 
Broad Tumor PortalNBEAL1
OASIS PortalNBEAL1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICNBEAL1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDNBEAL1
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 NBEAL1
DgiDB (Drug Gene Interaction Database)NBEAL1
DoCM (Curated mutations)NBEAL1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)NBEAL1 (select a term)
intoGenNBEAL1
Cancer3DNBEAL1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM609816   
Orphanet
MedgenNBEAL1
Genetic Testing Registry NBEAL1
NextProtQ6ZS30 [Medical]
TSGene65065
GENETestsNBEAL1
Target ValidationNBEAL1
Huge Navigator NBEAL1 [HugePedia]
snp3D : Map Gene to Disease65065
BioCentury BCIQNBEAL1
ClinGenNBEAL1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD65065
Chemical/Pharm GKB GenePA24740
Clinical trialNBEAL1
Miscellaneous
canSAR (ICR)NBEAL1 (select the gene name)
Probes
Litterature
PubMed8 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineNBEAL1
EVEXNBEAL1
GoPubMedNBEAL1
iHOPNBEAL1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:21:27 CEST 2017

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