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BEAN1 (brain expressed, associated with NEDD4, 1)

Identity

Alias_namesSCA31
spinocerebellar ataxia 31
Other aliasBEAN
HGNC (Hugo) BEAN1
LocusID (NCBI) 146227
Atlas_Id 54151
Location 16q21  [Link to chromosome band 16q21]
Location_base_pair Starts at 66461200 and ends at 66516745 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
BEAN1 (16q21) / SAP30BP (17q25.1)DUS2 (16q22.1) / BEAN1 (16q21)SAP30BP (17q25.1) / BEAN1 (16q21)
STARD3 (17q12) / BEAN1 (16q21)

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)BEAN1   24160
Cards
Entrez_Gene (NCBI)BEAN1  146227  brain expressed, associated with NEDD4, 1
AliasesBEAN; SCA31
GeneCards (Weizmann)BEAN1
Ensembl hg19 (Hinxton)ENSG00000166546 [Gene_View]  chr16:66461200-66516745 [Contig_View]  BEAN1 [Vega]
Ensembl hg38 (Hinxton)ENSG00000166546 [Gene_View]  chr16:66461200-66516745 [Contig_View]  BEAN1 [Vega]
ICGC DataPortalENSG00000166546
TCGA cBioPortalBEAN1
AceView (NCBI)BEAN1
Genatlas (Paris)BEAN1
WikiGenes146227
SOURCE (Princeton)BEAN1
Genetics Home Reference (NIH)BEAN1
Genomic and cartography
GoldenPath hg19 (UCSC)BEAN1  -     chr16:66461200-66516745 +  16q21   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BEAN1  -     16q21   [Description]    (hg38-Dec_2013)
EnsemblBEAN1 - 16q21 [CytoView hg19]  BEAN1 - 16q21 [CytoView hg38]
Mapping of homologs : NCBIBEAN1 [Mapview hg19]  BEAN1 [Mapview hg38]
OMIM117210   612051   
Gene and transcription
Genbank (Entrez)AB472390 AB472391 AB472392 AB472393 AB472394
RefSeq transcript (Entrez)NM_001136106 NM_001178020 NM_001197224 NM_001197225
RefSeq genomic (Entrez)NC_000016 NC_018927 NG_021403 NT_010498 NW_004929402
Consensus coding sequences : CCDS (NCBI)BEAN1
Cluster EST : UnigeneHs.740219 [ NCBI ]
CGAP (NCI)Hs.740219
Alternative Splicing GalleryENSG00000166546
Gene ExpressionBEAN1 [ NCBI-GEO ]   BEAN1 [ EBI - ARRAY_EXPRESS ]   BEAN1 [ SEEK ]   BEAN1 [ MEM ]
Gene Expression Viewer (FireBrowse)BEAN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)146227
GTEX Portal (Tissue expression)BEAN1
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ3B7T3   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ3B7T3  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ3B7T3
Splice isoforms : SwissVarQ3B7T3
PhosPhoSitePlusQ3B7T3
Domain families : Pfam (Sanger)
Domain families : Pfam (NCBI)
Conserved Domain (NCBI)BEAN1
DMDM Disease mutations146227
Blocks (Seattle)BEAN1
SuperfamilyQ3B7T3
Human Protein AtlasENSG00000166546
Peptide AtlasQ3B7T3
IPIIPI00884911   IPI00914635   IPI00984910   IPI00983060   
Protein Interaction databases
DIP (DOE-UCLA)Q3B7T3
IntAct (EBI)Q3B7T3
FunCoupENSG00000166546
BioGRIDBEAN1
STRING (EMBL)BEAN1
ZODIACBEAN1
Ontologies - Pathways
QuickGOQ3B7T3
Ontology : AmiGOintegral component of membrane  
Ontology : EGO-EBIintegral component of membrane  
NDEx NetworkBEAN1
Atlas of Cancer Signalling NetworkBEAN1
Wikipedia pathwaysBEAN1
Orthology - Evolution
OrthoDB146227
GeneTree (enSembl)ENSG00000166546
Phylogenetic Trees/Animal Genes : TreeFamBEAN1
HOVERGENQ3B7T3
HOGENOMQ3B7T3
Homologs : HomoloGeneBEAN1
Homology/Alignments : Family Browser (UCSC)BEAN1
Gene fusions - Rearrangements
Fusion : MitelmanDUS2/BEAN1 [16q22.1/16q21]  [t(16;16)(q21;q22)]  
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBEAN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BEAN1
dbVarBEAN1
ClinVarBEAN1
1000_GenomesBEAN1 
Exome Variant ServerBEAN1
ExAC (Exome Aggregation Consortium)BEAN1 (select the gene name)
Genetic variants : HAPMAP146227
Genomic Variants (DGV)BEAN1 [DGVbeta]
DECIPHER (Syndromes)16:66461200-66516745  ENSG00000166546
CONAN: Copy Number AnalysisBEAN1 
Mutations
ICGC Data PortalBEAN1 
TCGA Data PortalBEAN1 
Broad Tumor PortalBEAN1
OASIS PortalBEAN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBEAN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBEAN1
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 BEAN1
DgiDB (Drug Gene Interaction Database)BEAN1
DoCM (Curated mutations)BEAN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BEAN1 (select a term)
intoGenBEAN1
Cancer3DBEAN1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM117210    612051   
Orphanet18808   
MedgenBEAN1
Genetic Testing Registry BEAN1
NextProtQ3B7T3 [Medical]
TSGene146227
GENETestsBEAN1
Huge Navigator BEAN1 [HugePedia]
snp3D : Map Gene to Disease146227
BioCentury BCIQBEAN1
ClinGenBEAN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD146227
Clinical trialBEAN1
Miscellaneous
canSAR (ICR)BEAN1 (select the gene name)
Probes
Litterature
PubMed15 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBEAN1
EVEXBEAN1
GoPubMedBEAN1
iHOPBEAN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Mar 30 14:53:56 CEST 2017

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