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BEST1 (bestrophin 1)

Identity

Alias (NCBI)ARB
BEST
BMD
Best1V1Delta2
RP50
TU15B
VMD2
HGNC (Hugo) BEST1
HGNC Alias symbBMD
BEST
RP50
HGNC Alias nameBest disease
HGNC Previous nameVMD2
HGNC Previous namevitelliform macular dystrophy 2
LocusID (NCBI) 7439
Atlas_Id 60739
Location 11q12.3  [Link to chromosome band 11q12]
Location_base_pair Starts at 61950351 and ends at 61964461 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    bestrophin 1
AliasesARB; BEST; BMD; Best1V1Delta2; 
RP50; TU15B; VMD2
GeneCards (Weizmann)BEST1
Ensembl hg19 (Hinxton)ENSG00000167995 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000167995 [Gene_View]  ENSG00000167995 [Sequence]  chr11:61950351-61964461 [Contig_View]  BEST1 [Vega]
ICGC DataPortalENSG00000167995
TCGA cBioPortalBEST1
AceView (NCBI)BEST1
Genatlas (Paris)BEST1
SOURCE (Princeton)BEST1
Genetics Home Reference (NIH)BEST1
Genomic and cartography
GoldenPath hg38 (UCSC)BEST1  -     chr11:61950351-61964461 +  11q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BEST1  -     11q12.3   [Description]    (hg19-Feb_2009)
GoldenPathBEST1 - 11q12.3 [CytoView hg19]  BEST1 - 11q12.3 [CytoView hg38]
ImmunoBaseENSG00000167995
Genome Data Viewer NCBIBEST1 [Mapview hg19]  
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_001363591 NM_001363592 NM_001363593 NM_004183
Consensus coding sequences : CCDS (NCBI)BEST1
Gene ExpressionBEST1 [ NCBI-GEO ]   BEST1 [ EBI - ARRAY_EXPRESS ]   BEST1 [ SEEK ]   BEST1 [ MEM ]
Gene Expression Viewer (FireBrowse)BEST1 [ Firebrowse - Broad ]
GenevisibleExpression of BEST1 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
PhosPhoSitePlusO76090
Domains : Interpro (EBI)Best1    Bestrophin    Bestrophin/UPF0187   
Domain families : Pfam (Sanger)Bestrophin (PF01062)   
Domain families : Pfam (NCBI)pfam01062   
Conserved Domain (NCBI)BEST1
SuperfamilyO76090
AlphaFold pdb e-kbO76090   
Human Protein Atlas [tissue]ENSG00000167995-BEST1 [tissue]
HPRD01094
Protein Interaction databases
DIP (DOE-UCLA)O76090
IntAct (EBI)O76090
BioGRIDBEST1
STRING (EMBL)BEST1
ZODIACBEST1
Ontologies - Pathways
QuickGOO76090
Ontology : AmiGOchloride channel activity  chloride channel activity  cytosol  plasma membrane  chloride transport  visual perception  basal plasma membrane  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-EBIchloride channel activity  chloride channel activity  cytosol  plasma membrane  chloride transport  visual perception  basal plasma membrane  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
Homologs : HomoloGeneBEST1
Homology/Alignments : Family Browser (UCSC)BEST1
Gene fusions - Rearrangements
Fusion : QuiverBEST1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBEST1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BEST1
dbVarBEST1
ClinVarBEST1
MonarchBEST1
1000_GenomesBEST1 
Exome Variant ServerBEST1
GNOMAD BrowserENSG00000167995
Varsome BrowserBEST1
ACMGBEST1 variants
VarityO76090
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]  
Somatic Mutations in Cancer : COSMIC3DBEST1
Mutations and Diseases : HGMDBEST1
LOVD (Leiden Open Variation Database)[gene] [transcripts] [variants]
BioMutaBEST1
DgiDB (Drug Gene Interaction Database)BEST1
DoCM (Curated mutations)BEST1
CIViC (Clinical Interpretations of Variants in Cancer)BEST1
Cancer3DBEST1
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM153700    193220    607854    611809    613194   
Orphanet659    16900    20046    2769    4510    14017   
DisGeNETBEST1
MedgenBEST1
Genetic Testing Registry BEST1
NextProtO76090 [Medical]
GENETestsBEST1
Target ValidationBEST1
Huge Navigator BEST1 [HugePedia]
ClinGenBEST1
Clinical trials, drugs, therapy
MyCancerGenomeBEST1
Protein Interactions : CTDBEST1
Pharm GKB GenePA162377454
PharosO76090
Clinical trialBEST1
Miscellaneous
canSAR (ICR)BEST1
HarmonizomeBEST1
DataMed IndexBEST1
Probes
Litterature
PubMed174 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
EVEXBEST1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Mon Oct 4 15:43:17 CEST 2021
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