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BEST1 (bestrophin 1)

Identity

Alias_namesVMD2
vitelliform macular dystrophy 2
Alias_symbol (synonym)BMD
BEST
RP50
Other aliasARB
TU15B
HGNC (Hugo) BEST1
LocusID (NCBI) 7439
Atlas_Id 60739
Location 11q12.3  [Link to chromosome band 11q12]
Location_base_pair Starts at 61949884 and ends at 61963594 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)
KIAA1671 (22q11.23) / BEST1 (11q12.3)

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

 


External links

Nomenclature
HGNC (Hugo)BEST1   12703
Cards
Entrez_Gene (NCBI)BEST1  7439  bestrophin 1
AliasesARB; BEST; BMD; RP50; 
TU15B; VMD2
GeneCards (Weizmann)BEST1
Ensembl hg19 (Hinxton)ENSG00000167995 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167995 [Gene_View]  chr11:61949884-61963594 [Contig_View]  BEST1 [Vega]
ICGC DataPortalENSG00000167995
TCGA cBioPortalBEST1
AceView (NCBI)BEST1
Genatlas (Paris)BEST1
WikiGenes7439
SOURCE (Princeton)BEST1
Genetics Home Reference (NIH)BEST1
Genomic and cartography
GoldenPath hg38 (UCSC)BEST1  -     chr11:61949884-61963594 +  11q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BEST1  -     11q12.3   [Description]    (hg19-Feb_2009)
EnsemblBEST1 - 11q12.3 [CytoView hg19]  BEST1 - 11q12.3 [CytoView hg38]
Mapping of homologs : NCBIBEST1 [Mapview hg19]  BEST1 [Mapview hg38]
OMIM153700   193220   607854   611809   613194   
Gene and transcription
Genbank (Entrez)AB209451 AF057169 AF057170 AF073501 AK289681
RefSeq transcript (Entrez)NM_001139443 NM_001300786 NM_001300787 NM_004183
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BEST1
Cluster EST : UnigeneHs.712676 [ NCBI ]
CGAP (NCI)Hs.712676
Alternative Splicing GalleryENSG00000167995
Gene ExpressionBEST1 [ NCBI-GEO ]   BEST1 [ EBI - ARRAY_EXPRESS ]   BEST1 [ SEEK ]   BEST1 [ MEM ]
Gene Expression Viewer (FireBrowse)BEST1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7439
GTEX Portal (Tissue expression)BEST1
Human Protein AtlasENSG00000167995-BEST1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtO76090   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtO76090  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProO76090
Splice isoforms : SwissVarO76090
PhosPhoSitePlusO76090
Domains : Interpro (EBI)Best1    Bestrophin    Bestrophin/UPF0187   
Domain families : Pfam (Sanger)Bestrophin (PF01062)   
Domain families : Pfam (NCBI)pfam01062   
Conserved Domain (NCBI)BEST1
DMDM Disease mutations7439
Blocks (Seattle)BEST1
SuperfamilyO76090
Human Protein Atlas [tissue]ENSG00000167995-BEST1 [tissue]
Peptide AtlasO76090
HPRD01094
IPIIPI00181929   IPI00550794   IPI00549560   IPI00922581   IPI00555899   IPI01009916   IPI00218743   IPI00984202   
Protein Interaction databases
DIP (DOE-UCLA)O76090
IntAct (EBI)O76090
FunCoupENSG00000167995
BioGRIDBEST1
STRING (EMBL)BEST1
ZODIACBEST1
Ontologies - Pathways
QuickGOO76090
Ontology : AmiGOintracellular calcium activated chloride channel activity  chloride channel activity  chloride channel activity  cytosol  plasma membrane  chloride transport  visual perception  bicarbonate transmembrane transporter activity  bicarbonate transport  membrane  integral component of membrane  basolateral plasma membrane  transepithelial chloride transport  ion transmembrane transport  chloride channel complex  identical protein binding  detection of light stimulus involved in visual perception  regulation of calcium ion transport  chloride transmembrane transport  
Ontology : EGO-EBIintracellular calcium activated chloride channel activity  chloride channel activity  chloride channel activity  cytosol  plasma membrane  chloride transport  visual perception  bicarbonate transmembrane transporter activity  bicarbonate transport  membrane  integral component of membrane  basolateral plasma membrane  transepithelial chloride transport  ion transmembrane transport  chloride channel complex  identical protein binding  detection of light stimulus involved in visual perception  regulation of calcium ion transport  chloride transmembrane transport  
NDEx NetworkBEST1
Atlas of Cancer Signalling NetworkBEST1
Wikipedia pathwaysBEST1
Orthology - Evolution
OrthoDB7439
GeneTree (enSembl)ENSG00000167995
Phylogenetic Trees/Animal Genes : TreeFamBEST1
HOVERGENO76090
HOGENOMO76090
Homologs : HomoloGeneBEST1
Homology/Alignments : Family Browser (UCSC)BEST1
Gene fusions - Rearrangements
Fusion: Tumor Portal BEST1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBEST1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BEST1
dbVarBEST1
ClinVarBEST1
1000_GenomesBEST1 
Exome Variant ServerBEST1
ExAC (Exome Aggregation Consortium)ENSG00000167995
GNOMAD BrowserENSG00000167995
Genetic variants : HAPMAP7439
Genomic Variants (DGV)BEST1 [DGVbeta]
DECIPHERBEST1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBEST1 
Mutations
ICGC Data PortalBEST1 
TCGA Data PortalBEST1 
Broad Tumor PortalBEST1
OASIS PortalBEST1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBEST1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBEST1
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
LOVD (Leiden Open Variation Database)Eye diseases - LOVD
BioMutasearch BEST1
DgiDB (Drug Gene Interaction Database)BEST1
DoCM (Curated mutations)BEST1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BEST1 (select a term)
intoGenBEST1
Cancer3DBEST1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM153700    193220    607854    611809    613194   
Orphanet659    16900    20046    2769    4510    14017   
MedgenBEST1
Genetic Testing Registry BEST1
NextProtO76090 [Medical]
TSGene7439
GENETestsBEST1
Target ValidationBEST1
Huge Navigator BEST1 [HugePedia]
snp3D : Map Gene to Disease7439
BioCentury BCIQBEST1
ClinGenBEST1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7439
Chemical/Pharm GKB GenePA162377454
Clinical trialBEST1
Miscellaneous
canSAR (ICR)BEST1 (select the gene name)
Probes
Litterature
PubMed139 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBEST1
EVEXBEST1
GoPubMedBEST1
iHOPBEST1
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 : Thu Nov 9 11:39:01 CET 2017

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