Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CLCN1 (chloride voltage-gated channel 1)

Identity

Alias_nameschloride channel 1, skeletal muscle
chloride channel, voltage-sensitive 1
Alias_symbol (synonym)CLC1
ClC-1
Other alias
HGNC (Hugo) CLCN1
LocusID (NCBI) 1180
Atlas_Id 61852
Location 7q34  [Link to chromosome band 7q34]
Location_base_pair Starts at 143316126 and ends at 143352004 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)
MYH7 (14q11.2) / CLCN1 (7q34)

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)CLCN1   2019
Cards
Entrez_Gene (NCBI)CLCN1  1180  chloride voltage-gated channel 1
AliasesCLC1
GeneCards (Weizmann)CLCN1
Ensembl hg19 (Hinxton)ENSG00000188037 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000188037 [Gene_View]  ENSG00000188037 [Sequence]  chr7:143316126-143352004 [Contig_View]  CLCN1 [Vega]
ICGC DataPortalENSG00000188037
TCGA cBioPortalCLCN1
AceView (NCBI)CLCN1
Genatlas (Paris)CLCN1
WikiGenes1180
SOURCE (Princeton)CLCN1
Genetics Home Reference (NIH)CLCN1
Genomic and cartography
GoldenPath hg38 (UCSC)CLCN1  -     chr7:143316126-143352004 +  7q34   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CLCN1  -     7q34   [Description]    (hg19-Feb_2009)
EnsemblCLCN1 - 7q34 [CytoView hg19]  CLCN1 - 7q34 [CytoView hg38]
Mapping of homologs : NCBICLCN1 [Mapview hg19]  CLCN1 [Mapview hg38]
OMIM118425   160800   255700   
Gene and transcription
Genbank (Entrez)AY103154 AY103155 AY103156 BC111586 BC112156
RefSeq transcript (Entrez)NM_000083
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CLCN1
Cluster EST : UnigeneHs.121483 [ NCBI ]
CGAP (NCI)Hs.121483
Alternative Splicing GalleryENSG00000188037
Gene ExpressionCLCN1 [ NCBI-GEO ]   CLCN1 [ EBI - ARRAY_EXPRESS ]   CLCN1 [ SEEK ]   CLCN1 [ MEM ]
Gene Expression Viewer (FireBrowse)CLCN1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1180
GTEX Portal (Tissue expression)CLCN1
Human Protein AtlasENSG00000188037-CLCN1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP35523   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP35523  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP35523
Splice isoforms : SwissVarP35523
PhosPhoSitePlusP35523
Domaine pattern : Prosite (Expaxy)CBS (PS51371)   
Domains : Interpro (EBI)CBS_dom    Cl-channel_core    Cl-channel_volt-gated    Cl_channel-1   
Domain families : Pfam (Sanger)Voltage_CLC (PF00654)   
Domain families : Pfam (NCBI)pfam00654   
Conserved Domain (NCBI)CLCN1
DMDM Disease mutations1180
Blocks (Seattle)CLCN1
SuperfamilyP35523
Human Protein Atlas [tissue]ENSG00000188037-CLCN1 [tissue]
Peptide AtlasP35523
HPRD00320
IPIIPI00293558   IPI00917428   IPI00917544   
Protein Interaction databases
DIP (DOE-UCLA)P35523
IntAct (EBI)P35523
FunCoupENSG00000188037
BioGRIDCLCN1
STRING (EMBL)CLCN1
ZODIACCLCN1
Ontologies - Pathways
QuickGOP35523
Ontology : AmiGOvoltage-gated chloride channel activity  voltage-gated chloride channel activity  protein binding  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  muscle contraction  neuronal action potential propagation  ion transmembrane transport  chloride channel complex  sarcolemma  protein homodimerization activity  chloride transmembrane transport  regulation of anion transmembrane transport  
Ontology : EGO-EBIvoltage-gated chloride channel activity  voltage-gated chloride channel activity  protein binding  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  muscle contraction  neuronal action potential propagation  ion transmembrane transport  chloride channel complex  sarcolemma  protein homodimerization activity  chloride transmembrane transport  regulation of anion transmembrane transport  
NDEx NetworkCLCN1
Atlas of Cancer Signalling NetworkCLCN1
Wikipedia pathwaysCLCN1
Orthology - Evolution
OrthoDB1180
GeneTree (enSembl)ENSG00000188037
Phylogenetic Trees/Animal Genes : TreeFamCLCN1
HOGENOMP35523
Homologs : HomoloGeneCLCN1
Homology/Alignments : Family Browser (UCSC)CLCN1
Gene fusions - Rearrangements
Fusion : QuiverCLCN1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCLCN1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CLCN1
dbVarCLCN1
ClinVarCLCN1
1000_GenomesCLCN1 
Exome Variant ServerCLCN1
ExAC (Exome Aggregation Consortium)ENSG00000188037
GNOMAD BrowserENSG00000188037
Varsome BrowserCLCN1
Genetic variants : HAPMAP1180
Genomic Variants (DGV)CLCN1 [DGVbeta]
DECIPHERCLCN1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCLCN1 
Mutations
ICGC Data PortalCLCN1 
TCGA Data PortalCLCN1 
Broad Tumor PortalCLCN1
OASIS PortalCLCN1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCLCN1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCLCN1
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)LOVD - Leiden Open Variation Database
BioMutasearch CLCN1
DgiDB (Drug Gene Interaction Database)CLCN1
DoCM (Curated mutations)CLCN1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CLCN1 (select a term)
intoGenCLCN1
Cancer3DCLCN1(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118425    160800    255700   
Orphanet75   
DisGeNETCLCN1
MedgenCLCN1
Genetic Testing Registry CLCN1
NextProtP35523 [Medical]
TSGene1180
GENETestsCLCN1
Target ValidationCLCN1
Huge Navigator CLCN1 [HugePedia]
snp3D : Map Gene to Disease1180
BioCentury BCIQCLCN1
ClinGenCLCN1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1180
Chemical/Pharm GKB GenePA26546
Clinical trialCLCN1
Miscellaneous
canSAR (ICR)CLCN1 (select the gene name)
DataMed IndexCLCN1
Probes
Litterature
PubMed112 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCLCN1
EVEXCLCN1
GoPubMedCLCN1
iHOPCLCN1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Feb 14 15:00:58 CET 2019
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