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BSND (barttin CLCNK type accessory beta subunit)

Identity

Alias_namesDFNB73
deafness, autosomal recessive 73
Bartter syndrome, infantile, with sensorineural deafness (Barttin)
Alias_symbol (synonym)BART
Other alias
HGNC (Hugo) BSND
LocusID (NCBI) 7809
Atlas_Id 60818
Location 1p32.3  [Link to chromosome band 1p32]
Location_base_pair Starts at 54998944 and ends at 55008792 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)

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)BSND   16512
Cards
Entrez_Gene (NCBI)BSND  7809  barttin CLCNK type accessory beta subunit
AliasesBART; DFNB73
GeneCards (Weizmann)BSND
Ensembl hg19 (Hinxton) [Gene_View]
Ensembl hg38 (Hinxton) [Gene_View]  chr1:54998944-55008792 [Contig_View]  BSND [Vega]
TCGA cBioPortalBSND
AceView (NCBI)BSND
Genatlas (Paris)BSND
WikiGenes7809
SOURCE (Princeton)BSND
Genetics Home Reference (NIH)BSND
Genomic and cartography
GoldenPath hg38 (UCSC)BSND  -     chr1:54998944-55008792 +  1p32.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)BSND  -     1p32.3   [Description]    (hg19-Feb_2009)
EnsemblBSND - 1p32.3 [CytoView hg19]  BSND - 1p32.3 [CytoView hg38]
Mapping of homologs : NCBIBSND [Mapview hg19]  BSND [Mapview hg38]
OMIM602522   606412   
Gene and transcription
Genbank (Entrez)AK129999 AY034632 BC069510 BC103898 BC103899
RefSeq transcript (Entrez)NM_057176
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)BSND
Cluster EST : UnigeneHs.151291 [ NCBI ]
CGAP (NCI)Hs.151291
Gene ExpressionBSND [ NCBI-GEO ]   BSND [ EBI - ARRAY_EXPRESS ]   BSND [ SEEK ]   BSND [ MEM ]
Gene Expression Viewer (FireBrowse)BSND [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)7809
GTEX Portal (Tissue expression)BSND
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ8WZ55   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ8WZ55  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ8WZ55
Splice isoforms : SwissVarQ8WZ55
PhosPhoSitePlusQ8WZ55
Domains : Interpro (EBI)Barttin_dom   
Domain families : Pfam (Sanger)Barttin (PF15462)   
Domain families : Pfam (NCBI)pfam15462   
Conserved Domain (NCBI)BSND
DMDM Disease mutations7809
Blocks (Seattle)BSND
SuperfamilyQ8WZ55
Peptide AtlasQ8WZ55
HPRD05914
IPIIPI00103841   
Protein Interaction databases
DIP (DOE-UCLA)Q8WZ55
IntAct (EBI)Q8WZ55
BioGRIDBSND
STRING (EMBL)BSND
ZODIACBSND
Ontologies - Pathways
QuickGOQ8WZ55
Ontology : AmiGOvoltage-gated chloride channel activity  chloride channel activity  cytoplasm  plasma membrane  integral component of plasma membrane  basolateral plasma membrane  chloride channel regulator activity  ion transmembrane transport  protein complex  regulation of molecular function  chloride transmembrane transport  regulation of anion transmembrane transport  
Ontology : EGO-EBIvoltage-gated chloride channel activity  chloride channel activity  cytoplasm  plasma membrane  integral component of plasma membrane  basolateral plasma membrane  chloride channel regulator activity  ion transmembrane transport  protein complex  regulation of molecular function  chloride transmembrane transport  regulation of anion transmembrane transport  
NDEx NetworkBSND
Atlas of Cancer Signalling NetworkBSND
Wikipedia pathwaysBSND
Orthology - Evolution
OrthoDB7809
Phylogenetic Trees/Animal Genes : TreeFamBSND
HOVERGENQ8WZ55
HOGENOMQ8WZ55
Homologs : HomoloGeneBSND
Homology/Alignments : Family Browser (UCSC)BSND
Gene fusions - Rearrangements
Tumor Fusion PortalBSND
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerBSND [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)BSND
dbVarBSND
ClinVarBSND
1000_GenomesBSND 
Exome Variant ServerBSND
ExAC (Exome Aggregation Consortium)
Genetic variants : HAPMAP7809
Genomic Variants (DGV)BSND [DGVbeta]
DECIPHERBSND [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisBSND 
Mutations
ICGC Data PortalBSND 
TCGA Data PortalBSND 
Broad Tumor PortalBSND
OASIS PortalBSND [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICBSND  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDBSND
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)SpainMDB
BioMutasearch BSND
DgiDB (Drug Gene Interaction Database)BSND
DoCM (Curated mutations)BSND (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)BSND (select a term)
intoGenBSND
Cancer3DBSND(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM602522    606412   
Orphanet11913    12047   
DisGeNETBSND
MedgenBSND
Genetic Testing Registry BSND
NextProtQ8WZ55 [Medical]
TSGene7809
GENETestsBSND
Target ValidationBSND
Huge Navigator BSND [HugePedia]
snp3D : Map Gene to Disease7809
BioCentury BCIQBSND
ClinGenBSND
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD7809
Chemical/Pharm GKB GenePA134911659
Clinical trialBSND
Miscellaneous
canSAR (ICR)BSND (select the gene name)
Probes
Litterature
PubMed31 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineBSND
EVEXBSND
GoPubMedBSND
iHOPBSND
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Tue Nov 21 12:59:21 CET 2017

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