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BEST3 (bestrophin 3)

Identity

Alias_namesVMD2L3
vitelliform macular dystrophy 2-like 3
Alias_symbol (synonym)MGC40411
MGC13168
Other alias
HGNC (Hugo) BEST3
LocusID (NCBI) 144453
Atlas_Id 60741
Location 12q15  [Link to chromosome band 12q15]
Location_base_pair Starts at 70047389 and ends at 70093196 bp from pter ( according to hg19-Feb_2009)
Fusion genes
(updated 2016)
HNRNPA1 (12q13.13) / BEST3 (12q15)

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)BEST3   17105
Cards
Entrez_Gene (NCBI)BEST3  144453  bestrophin 3
AliasesVMD2L3
GeneCards (Weizmann)BEST3
Ensembl hg19 (Hinxton)ENSG00000127325 [Gene_View]  chr12:70047389-70093196 [Contig_View]  BEST3 [Vega]
Ensembl hg38 (Hinxton)ENSG00000127325 [Gene_View]  chr12:70047389-70093196 [Contig_View]  BEST3 [Vega]
ICGC DataPortalENSG00000127325
TCGA cBioPortalBEST3
AceView (NCBI)BEST3
Genatlas (Paris)BEST3
WikiGenes144453
SOURCE (Princeton)BEST3
Genetics Home Reference (NIH)BEST3
Genomic and cartography
GoldenPath hg19 (UCSC)BEST3  -     chr12:70047389-70093196 -  12q15   [Description]    (hg19-Feb_2009)
GoldenPath hg38 (UCSC)BEST3  -     12q15   [Description]    (hg38-Dec_2013)
EnsemblBEST3 - 12q15 [CytoView hg19]  BEST3 - 12q15 [CytoView hg38]
Mapping of homologs : NCBIBEST3 [Mapview hg19]  BEST3 [Mapview hg38]
OMIM607337   
Gene and transcription
Genbank (Entrez)AF440758 AK096459 AY515706 BC006440 BC028087
RefSeq transcript (Entrez)NM_001282613 NM_001282614 NM_001282615 NM_001282616 NM_032735 NM_152439
RefSeq genomic (Entrez)NC_000012 NC_018923 NT_029419 NW_004929384
Consensus coding sequences : CCDS (NCBI)BEST3
Cluster EST : UnigeneHs.280782 [ NCBI ]
CGAP (NCI)Hs.280782
Alternative Splicing GalleryENSG00000127325
Gene ExpressionBEST3 [ NCBI-GEO ]   BEST3 [ EBI - ARRAY_EXPRESS ]   BEST3 [ SEEK ]   BEST3 [ MEM ]
Gene Expression Viewer (FireBrowse)BEST3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)144453
GTEX Portal (Tissue expression)BEST3
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8N1M1   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8N1M1  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8N1M1
Splice isoforms : SwissVarQ8N1M1
PhosPhoSitePlusQ8N1M1
Domains : Interpro (EBI)Bestrophin    Bestrophin/UPF0187   
Domain families : Pfam (Sanger)Bestrophin (PF01062)   
Domain families : Pfam (NCBI)pfam01062   
Conserved Domain (NCBI)BEST3
DMDM Disease mutations144453
Blocks (Seattle)BEST3
SuperfamilyQ8N1M1
Human Protein AtlasENSG00000127325
Peptide AtlasQ8N1M1
HPRD17484
IPIIPI00168901   IPI00166196   IPI00013763   IPI01021641   IPI01022986   IPI01022704   IPI01021009   IPI00852620   IPI00395022   IPI01015372   
Protein Interaction databases
DIP (DOE-UCLA)Q8N1M1
IntAct (EBI)Q8N1M1
FunCoupENSG00000127325
BioGRIDBEST3
STRING (EMBL)BEST3
ZODIACBEST3
Ontologies - Pathways
QuickGOQ8N1M1
Ontology : AmiGOmolecular_function  chloride channel activity  plasma membrane  biological_process  chloride channel complex  negative regulation of ion transport  chloride transmembrane transport  
Ontology : EGO-EBImolecular_function  chloride channel activity  plasma membrane  biological_process  chloride channel complex  negative regulation of ion transport  chloride transmembrane transport  
NDEx NetworkBEST3
Atlas of Cancer Signalling NetworkBEST3
Wikipedia pathwaysBEST3
Orthology - Evolution
OrthoDB144453
GeneTree (enSembl)ENSG00000127325
Phylogenetic Trees/Animal Genes : TreeFamBEST3
HOVERGENQ8N1M1
HOGENOMQ8N1M1
Homologs : HomoloGeneBEST3
Homology/Alignments : Family Browser (UCSC)BEST3
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBEST3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BEST3
dbVarBEST3
ClinVarBEST3
1000_GenomesBEST3 
Exome Variant ServerBEST3
ExAC (Exome Aggregation Consortium)BEST3 (select the gene name)
Genetic variants : HAPMAP144453
Genomic Variants (DGV)BEST3 [DGVbeta]
DECIPHER (Syndromes)12:70047389-70093196  ENSG00000127325
CONAN: Copy Number AnalysisBEST3 
Mutations
ICGC Data PortalBEST3 
TCGA Data PortalBEST3 
Broad Tumor PortalBEST3
OASIS PortalBEST3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBEST3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBEST3
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 BEST3
DgiDB (Drug Gene Interaction Database)BEST3
DoCM (Curated mutations)BEST3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BEST3 (select a term)
intoGenBEST3
Cancer3DBEST3(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607337   
Orphanet
MedgenBEST3
Genetic Testing Registry BEST3
NextProtQ8N1M1 [Medical]
TSGene144453
GENETestsBEST3
Huge Navigator BEST3 [HugePedia]
snp3D : Map Gene to Disease144453
BioCentury BCIQBEST3
ClinGenBEST3
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD144453
Chemical/Pharm GKB GenePA162377503
Clinical trialBEST3
Miscellaneous
canSAR (ICR)BEST3 (select the gene name)
Probes
Litterature
PubMed11 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBEST3
EVEXBEST3
GoPubMedBEST3
iHOPBEST3
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Mar 14 11:55:47 CET 2017

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