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BEST4 (bestrophin 4)

Identity

Alias_namesVMD2L2
vitelliform macular dystrophy 2-like 2
Other alias
HGNC (Hugo) BEST4
LocusID (NCBI) 266675
Atlas_Id 60742
Location 1p34.1  [Link to chromosome band 1p34]
Location_base_pair Starts at 44783585 and ends at 44787754 bp from pter ( according to hg38-Dec_2013)

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)BEST4   17106
Cards
Entrez_Gene (NCBI)BEST4  266675  bestrophin 4
AliasesVMD2L2
GeneCards (Weizmann)BEST4
Ensembl hg19 (Hinxton)ENSG00000142959 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000142959 [Gene_View]  chr1:44783585-44787754 [Contig_View]  BEST4 [Vega]
ICGC DataPortalENSG00000142959
TCGA cBioPortalBEST4
AceView (NCBI)BEST4
Genatlas (Paris)BEST4
WikiGenes266675
SOURCE (Princeton)BEST4
Genetics Home Reference (NIH)BEST4
Genomic and cartography
GoldenPath hg38 (UCSC)BEST4  -     chr1:44783585-44787754 -  1p34.1   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BEST4  -     1p34.1   [Description]    (hg19-Feb_2009)
EnsemblBEST4 - 1p34.1 [CytoView hg19]  BEST4 - 1p34.1 [CytoView hg38]
Mapping of homologs : NCBIBEST4 [Mapview hg19]  BEST4 [Mapview hg38]
OMIM607336   
Gene and transcription
Genbank (Entrez)AF440757 AY515707 BC101823 BM142321
RefSeq transcript (Entrez)NM_153274
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BEST4
Cluster EST : UnigeneHs.302513 [ NCBI ]
CGAP (NCI)Hs.302513
Alternative Splicing GalleryENSG00000142959
Gene ExpressionBEST4 [ NCBI-GEO ]   BEST4 [ EBI - ARRAY_EXPRESS ]   BEST4 [ SEEK ]   BEST4 [ MEM ]
Gene Expression Viewer (FireBrowse)BEST4 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)266675
GTEX Portal (Tissue expression)BEST4
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8NFU0   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8NFU0  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8NFU0
Splice isoforms : SwissVarQ8NFU0
PhosPhoSitePlusQ8NFU0
Domains : Interpro (EBI)Bestrophin    Bestrophin/UPF0187   
Domain families : Pfam (Sanger)Bestrophin (PF01062)   
Domain families : Pfam (NCBI)pfam01062   
Conserved Domain (NCBI)BEST4
DMDM Disease mutations266675
Blocks (Seattle)BEST4
SuperfamilyQ8NFU0
Human Protein AtlasENSG00000142959
Peptide AtlasQ8NFU0
HPRD09549
IPIIPI00168902   
Protein Interaction databases
DIP (DOE-UCLA)Q8NFU0
IntAct (EBI)Q8NFU0
FunCoupENSG00000142959
BioGRIDBEST4
STRING (EMBL)BEST4
ZODIACBEST4
Ontologies - Pathways
QuickGOQ8NFU0
Ontology : AmiGOmolecular_function  chloride channel activity  plasma membrane  biological_process  chloride channel complex  chloride transmembrane transport  
Ontology : EGO-EBImolecular_function  chloride channel activity  plasma membrane  biological_process  chloride channel complex  chloride transmembrane transport  
NDEx NetworkBEST4
Atlas of Cancer Signalling NetworkBEST4
Wikipedia pathwaysBEST4
Orthology - Evolution
OrthoDB266675
GeneTree (enSembl)ENSG00000142959
Phylogenetic Trees/Animal Genes : TreeFamBEST4
HOVERGENQ8NFU0
HOGENOMQ8NFU0
Homologs : HomoloGeneBEST4
Homology/Alignments : Family Browser (UCSC)BEST4
Gene fusions - Rearrangements
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBEST4 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BEST4
dbVarBEST4
ClinVarBEST4
1000_GenomesBEST4 
Exome Variant ServerBEST4
ExAC (Exome Aggregation Consortium)BEST4 (select the gene name)
Genetic variants : HAPMAP266675
Genomic Variants (DGV)BEST4 [DGVbeta]
DECIPHERBEST4 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBEST4 
Mutations
ICGC Data PortalBEST4 
TCGA Data PortalBEST4 
Broad Tumor PortalBEST4
OASIS PortalBEST4 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBEST4  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBEST4
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch BEST4
DgiDB (Drug Gene Interaction Database)BEST4
DoCM (Curated mutations)BEST4 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BEST4 (select a term)
intoGenBEST4
Cancer3DBEST4(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM607336   
Orphanet
MedgenBEST4
Genetic Testing Registry BEST4
NextProtQ8NFU0 [Medical]
TSGene266675
GENETestsBEST4
Target ValidationBEST4
Huge Navigator BEST4 [HugePedia]
snp3D : Map Gene to Disease266675
BioCentury BCIQBEST4
ClinGenBEST4
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD266675
Chemical/Pharm GKB GenePA162377520
Clinical trialBEST4
Miscellaneous
canSAR (ICR)BEST4 (select the gene name)
Probes
Litterature
PubMed9 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBEST4
EVEXBEST4
GoPubMedBEST4
iHOPBEST4
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 : Wed Jun 7 15:39:38 CEST 2017

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