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CHRM3 (cholinergic receptor muscarinic 3)

Identity

Alias_namesmuscarinic 3
Other aliasEGBRS
HM3
PBS
HGNC (Hugo) CHRM3
LocusID (NCBI) 1131
Atlas_Id 50505
Location 1q43  [Link to chromosome band 1q43]
Location_base_pair Starts at 239386930 and ends at 239915449 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)
CHRM3 (1q43) / CASQ1 (1q23.2)CHRM3 (1q43) / CHRM3 (1q43)FBXL18 (7p22.1) / CHRM3 (1q43)
GAS7 (17p13.1) / CHRM3 (1q43)PDCD4 (10q25.2) / CHRM3 (1q43)SPG11 (15q21.1) / CHRM3 (1q43)
STATH (4q13.3) / CHRM3 (1q43)CHRM3 1q43 / CASQ1 1q23.2

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

 


Other Solid tumors implicated (Data extracted from papers in the Atlas) [ 1 ]
  t(1;1)(q23;q43) CHRM3/CASQ1


External links

Nomenclature
HGNC (Hugo)CHRM3   1952
Cards
Entrez_Gene (NCBI)CHRM3  1131  cholinergic receptor muscarinic 3
AliasesEGBRS; HM3; PBS
GeneCards (Weizmann)CHRM3
Ensembl hg19 (Hinxton)ENSG00000133019 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000133019 [Gene_View]  ENSG00000133019 [Sequence]  chr1:239386930-239915449 [Contig_View]  CHRM3 [Vega]
ICGC DataPortalENSG00000133019
TCGA cBioPortalCHRM3
AceView (NCBI)CHRM3
Genatlas (Paris)CHRM3
WikiGenes1131
SOURCE (Princeton)CHRM3
Genetics Home Reference (NIH)CHRM3
Genomic and cartography
GoldenPath hg38 (UCSC)CHRM3  -     chr1:239386930-239915449 +  1q43   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHRM3  -     1q43   [Description]    (hg19-Feb_2009)
EnsemblCHRM3 - 1q43 [CytoView hg19]  CHRM3 - 1q43 [CytoView hg38]
Mapping of homologs : NCBICHRM3 [Mapview hg19]  CHRM3 [Mapview hg38]
OMIM100100   118494   
Gene and transcription
Genbank (Entrez)AF279779 AF385589 AF498917 AK056349 AK074575
RefSeq transcript (Entrez)NM_000740 NM_001347716
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHRM3
Cluster EST : UnigeneHs.155736 [ NCBI ]
CGAP (NCI)Hs.155736
Alternative Splicing GalleryENSG00000133019
Gene ExpressionCHRM3 [ NCBI-GEO ]   CHRM3 [ EBI - ARRAY_EXPRESS ]   CHRM3 [ SEEK ]   CHRM3 [ MEM ]
Gene Expression Viewer (FireBrowse)CHRM3 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1131
GTEX Portal (Tissue expression)CHRM3
Human Protein AtlasENSG00000133019-CHRM3 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP20309   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP20309  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP20309
Splice isoforms : SwissVarP20309
PhosPhoSitePlusP20309
Domaine pattern : Prosite (Expaxy)G_PROTEIN_RECEP_F1_1 (PS00237)    G_PROTEIN_RECEP_F1_2 (PS50262)   
Domains : Interpro (EBI)GPCR_Rhodpsn    GPCR_Rhodpsn_7TM    Musac_Ach_M3_rcpt    Musac_Ach_rcpt   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Domain families : Smart (EMBL)7TM_GPCR_Srsx (SM01381)  
Conserved Domain (NCBI)CHRM3
DMDM Disease mutations1131
Blocks (Seattle)CHRM3
PDB (SRS)2CSA   
PDB (PDBSum)2CSA   
PDB (IMB)2CSA   
PDB (RSDB)2CSA   
Structural Biology KnowledgeBase2CSA   
SCOP (Structural Classification of Proteins)2CSA   
CATH (Classification of proteins structures)2CSA   
SuperfamilyP20309
Human Protein Atlas [tissue]ENSG00000133019-CHRM3 [tissue]
Peptide AtlasP20309
HPRD00329
IPIIPI00023456   IPI00641121   
Protein Interaction databases
DIP (DOE-UCLA)P20309
IntAct (EBI)P20309
FunCoupENSG00000133019
BioGRIDCHRM3
STRING (EMBL)CHRM3
ZODIACCHRM3
Ontologies - Pathways
QuickGOP20309
Ontology : AmiGOregulation of vascular smooth muscle contraction  phosphatidylinositol phospholipase C activity  G protein-coupled receptor activity  G protein-coupled serotonin receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  cellular protein modification process  smooth muscle contraction  signal transduction  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway  G protein-coupled acetylcholine receptor signaling pathway  chemical synaptic transmission  synaptic transmission, cholinergic  nervous system development  cell proliferation  basolateral plasma membrane  G protein-coupled acetylcholine receptor activity  G protein-coupled acetylcholine receptor activity  cell junction  dendrite  neurotransmitter receptor activity  signaling receptor activity  acetylcholine binding  axon terminus  positive regulation of smooth muscle contraction  saliva secretion  G protein-coupled serotonin receptor signaling pathway  glutamatergic synapse  integral component of presynaptic membrane  integral component of postsynaptic density membrane  
Ontology : EGO-EBIregulation of vascular smooth muscle contraction  phosphatidylinositol phospholipase C activity  G protein-coupled receptor activity  G protein-coupled serotonin receptor activity  protein binding  plasma membrane  plasma membrane  integral component of plasma membrane  integral component of plasma membrane  cellular protein modification process  smooth muscle contraction  signal transduction  G protein-coupled receptor signaling pathway  G protein-coupled receptor signaling pathway, coupled to cyclic nucleotide second messenger  adenylate cyclase-inhibiting G protein-coupled acetylcholine receptor signaling pathway  G protein-coupled acetylcholine receptor signaling pathway  chemical synaptic transmission  synaptic transmission, cholinergic  nervous system development  cell proliferation  basolateral plasma membrane  G protein-coupled acetylcholine receptor activity  G protein-coupled acetylcholine receptor activity  cell junction  dendrite  neurotransmitter receptor activity  signaling receptor activity  acetylcholine binding  axon terminus  positive regulation of smooth muscle contraction  saliva secretion  G protein-coupled serotonin receptor signaling pathway  glutamatergic synapse  integral component of presynaptic membrane  integral component of postsynaptic density membrane  
Pathways : KEGGCalcium signaling pathway    Neuroactive ligand-receptor interaction    Cholinergic synapse    Regulation of actin cytoskeleton    Insulin secretion    Salivary secretion    Gastric acid secretion    Pancreatic secretion   
NDEx NetworkCHRM3
Atlas of Cancer Signalling NetworkCHRM3
Wikipedia pathwaysCHRM3
Orthology - Evolution
OrthoDB1131
GeneTree (enSembl)ENSG00000133019
Phylogenetic Trees/Animal Genes : TreeFamCHRM3
HOVERGENP20309
HOGENOMP20309
Homologs : HomoloGeneCHRM3
Homology/Alignments : Family Browser (UCSC)CHRM3
Gene fusions - Rearrangements
Fusion : MitelmanCHRM3/CASQ1 [1q43/1q23.2]  
Fusion PortalCHRM3 1q43 CASQ1 1q23.2 LUSC
Fusion : QuiverCHRM3
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHRM3 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHRM3
dbVarCHRM3
ClinVarCHRM3
1000_GenomesCHRM3 
Exome Variant ServerCHRM3
ExAC (Exome Aggregation Consortium)ENSG00000133019
GNOMAD BrowserENSG00000133019
Varsome BrowserCHRM3
Genetic variants : HAPMAP1131
Genomic Variants (DGV)CHRM3 [DGVbeta]
DECIPHERCHRM3 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHRM3 
Mutations
ICGC Data PortalCHRM3 
TCGA Data PortalCHRM3 
Broad Tumor PortalCHRM3
OASIS PortalCHRM3 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHRM3  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHRM3
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHRM3
DgiDB (Drug Gene Interaction Database)CHRM3
DoCM (Curated mutations)CHRM3 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHRM3 (select a term)
intoGenCHRM3
Cancer3DCHRM3(select the gene name)
Impact of mutations[PolyPhen2] [Provean] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM100100    118494   
Orphanet566   
DisGeNETCHRM3
MedgenCHRM3
Genetic Testing Registry CHRM3
NextProtP20309 [Medical]
TSGene1131
GENETestsCHRM3
Target ValidationCHRM3
Huge Navigator CHRM3 [HugePedia]
snp3D : Map Gene to Disease1131
BioCentury BCIQCHRM3
ClinGenCHRM3 (curated)
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1131
Chemical/Pharm GKB GenePA112
Clinical trialCHRM3
Miscellaneous
canSAR (ICR)CHRM3 (select the gene name)
Probes
Litterature
PubMed165 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHRM3
EVEXCHRM3
GoPubMedCHRM3
iHOPCHRM3
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 : Tue Nov 6 10:58:16 CET 2018

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