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CHRNE (cholinergic receptor nicotinic epsilon subunit)

Identity

Alias_namescholinergic receptor, nicotinic, epsilon
cholinergic receptor, nicotinic, epsilon (muscle)
cholinergic receptor, nicotinic epsilon
Alias_symbol (synonym)ACHRE
Other aliasCMS1D
CMS1E
CMS2A
CMS4A
CMS4B
CMS4C
FCCMS
SCCMS
HGNC (Hugo) CHRNE
LocusID (NCBI) 1145
Atlas_Id 61818
Location 17p13.2  [Link to chromosome band 17p13]
Location_base_pair Starts at 4897769 and ends at 4903074 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)
AC091153.1 () / CHRNE (17p13.2)

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)CHRNE   1966
Cards
Entrez_Gene (NCBI)CHRNE  1145  cholinergic receptor nicotinic epsilon subunit
AliasesACHRE; CMS1D; CMS1E; CMS2A; 
CMS4A; CMS4B; CMS4C; FCCMS; SCCMS
GeneCards (Weizmann)CHRNE
Ensembl hg19 (Hinxton)ENSG00000108556 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000108556 [Gene_View]  chr17:4897769-4903074 [Contig_View]  CHRNE [Vega]
ICGC DataPortalENSG00000108556
TCGA cBioPortalCHRNE
AceView (NCBI)CHRNE
Genatlas (Paris)CHRNE
WikiGenes1145
SOURCE (Princeton)CHRNE
Genetics Home Reference (NIH)CHRNE
Genomic and cartography
GoldenPath hg38 (UCSC)CHRNE  -     chr17:4897769-4903074 -  17p13.2   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHRNE  -     17p13.2   [Description]    (hg19-Feb_2009)
EnsemblCHRNE - 17p13.2 [CytoView hg19]  CHRNE - 17p13.2 [CytoView hg38]
Mapping of homologs : NCBICHRNE [Mapview hg19]  CHRNE [Mapview hg38]
OMIM100725   605809   608931   616324   
Gene and transcription
Genbank (Entrez)AI041890 BC156077 BC157043 X66403
RefSeq transcript (Entrez)NM_000080
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHRNE
Cluster EST : UnigeneHs.654535 [ NCBI ]
CGAP (NCI)Hs.654535
Alternative Splicing GalleryENSG00000108556
Gene ExpressionCHRNE [ NCBI-GEO ]   CHRNE [ EBI - ARRAY_EXPRESS ]   CHRNE [ SEEK ]   CHRNE [ MEM ]
Gene Expression Viewer (FireBrowse)CHRNE [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1145
GTEX Portal (Tissue expression)CHRNE
Human Protein AtlasENSG00000108556-CHRNE [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtQ04844   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtQ04844  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProQ04844
Splice isoforms : SwissVarQ04844
PhosPhoSitePlusQ04844
Domaine pattern : Prosite (Expaxy)NEUROTR_ION_CHANNEL (PS00236)   
Domains : Interpro (EBI)Acetylcholine_rcpt_TM    Neur_chan_lig-bd    Neur_channel    Neurotrans-gated_channel_TM    Neurotransmitter_ion_chnl_CS    Nicotinic_acetylcholine_rcpt   
Domain families : Pfam (Sanger)Neur_chan_LBD (PF02931)    Neur_chan_memb (PF02932)   
Domain families : Pfam (NCBI)pfam02931    pfam02932   
Conserved Domain (NCBI)CHRNE
DMDM Disease mutations1145
Blocks (Seattle)CHRNE
PDB (SRS)2DF9   
PDB (PDBSum)2DF9   
PDB (IMB)2DF9   
PDB (RSDB)2DF9   
Structural Biology KnowledgeBase2DF9   
SCOP (Structural Classification of Proteins)2DF9   
CATH (Classification of proteins structures)2DF9   
SuperfamilyQ04844
Human Protein Atlas [tissue]ENSG00000108556-CHRNE [tissue]
Peptide AtlasQ04844
HPRD00008
IPIIPI00029753   
Protein Interaction databases
DIP (DOE-UCLA)Q04844
IntAct (EBI)Q04844
FunCoupENSG00000108556
BioGRIDCHRNE
STRING (EMBL)CHRNE
ZODIACCHRNE
Ontologies - Pathways
QuickGOQ04844
Ontology : AmiGOplasma membrane  integral component of plasma membrane  acetylcholine-gated channel complex  transport  muscle contraction  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  cation transmembrane transporter activity  ligand-gated ion channel activity  acetylcholine receptor activity  acetylcholine-gated cation-selective channel activity  cell junction  response to nicotine  acetylcholine binding  postsynaptic membrane  excitatory postsynaptic potential  cation transmembrane transport  
Ontology : EGO-EBIplasma membrane  integral component of plasma membrane  acetylcholine-gated channel complex  transport  muscle contraction  signal transduction  synaptic transmission, cholinergic  neuromuscular synaptic transmission  cation transmembrane transporter activity  ligand-gated ion channel activity  acetylcholine receptor activity  acetylcholine-gated cation-selective channel activity  cell junction  response to nicotine  acetylcholine binding  postsynaptic membrane  excitatory postsynaptic potential  cation transmembrane transport  
Pathways : KEGGNeuroactive ligand-receptor interaction   
NDEx NetworkCHRNE
Atlas of Cancer Signalling NetworkCHRNE
Wikipedia pathwaysCHRNE
Orthology - Evolution
OrthoDB1145
GeneTree (enSembl)ENSG00000108556
Phylogenetic Trees/Animal Genes : TreeFamCHRNE
HOVERGENQ04844
HOGENOMQ04844
Homologs : HomoloGeneCHRNE
Homology/Alignments : Family Browser (UCSC)CHRNE
Gene fusions - Rearrangements
Fusion: Tumor Portal CHRNE
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHRNE [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHRNE
dbVarCHRNE
ClinVarCHRNE
1000_GenomesCHRNE 
Exome Variant ServerCHRNE
ExAC (Exome Aggregation Consortium)ENSG00000108556
GNOMAD BrowserENSG00000108556
Genetic variants : HAPMAP1145
Genomic Variants (DGV)CHRNE [DGVbeta]
DECIPHERCHRNE [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHRNE 
Mutations
ICGC Data PortalCHRNE 
TCGA Data PortalCHRNE 
Broad Tumor PortalCHRNE
OASIS PortalCHRNE [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHRNE  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHRNE
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD - Leiden Open Variation Database
LOVD (Leiden Open Variation Database)Leiden Muscular Dystrophy pages
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHRNE
DgiDB (Drug Gene Interaction Database)CHRNE
DoCM (Curated mutations)CHRNE (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHRNE (select a term)
intoGenCHRNE
Cancer3DCHRNE(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM100725    605809    608931    616324   
Orphanet13930    13930   
MedgenCHRNE
Genetic Testing Registry CHRNE
NextProtQ04844 [Medical]
TSGene1145
GENETestsCHRNE
Target ValidationCHRNE
Huge Navigator CHRNE [HugePedia]
snp3D : Map Gene to Disease1145
BioCentury BCIQCHRNE
ClinGenCHRNE
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1145
Chemical/Pharm GKB GenePA26498
Clinical trialCHRNE
Miscellaneous
canSAR (ICR)CHRNE (select the gene name)
Probes
Litterature
PubMed45 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHRNE
EVEXCHRNE
GoPubMedCHRNE
iHOPCHRNE
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Thu Nov 9 11:42:36 CET 2017

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