Atlas of Genetics and Cytogenetics in Oncology and Haematology

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CHRM1 (cholinergic receptor muscarinic 1)

Identity

Alias_namesmuscarinic 1
Other aliasHM1
M1
M1R
HGNC (Hugo) CHRM1
LocusID (NCBI) 1128
Atlas_Id 53220
Location 11q12.3  [Link to chromosome band 11q12]
Location_base_pair Starts at 62908679 and ends at 62921540 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)
SYTL2 (11q14.1) / CHRM1 (11q12.3)SYTL2 11q14.1 / CHRM1 11q12.3

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(11;11)(q12;q14) SYTL2/CHRM1

External links

Nomenclature
HGNC (Hugo)CHRM1   1950
Cards
Entrez_Gene (NCBI)CHRM1  1128  cholinergic receptor muscarinic 1
AliasesHM1; M1; M1R
GeneCards (Weizmann)CHRM1
Ensembl hg19 (Hinxton)ENSG00000168539 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000168539 [Gene_View]  ENSG00000168539 [Sequence]  chr11:62908679-62921540 [Contig_View]  CHRM1 [Vega]
ICGC DataPortalENSG00000168539
TCGA cBioPortalCHRM1
AceView (NCBI)CHRM1
Genatlas (Paris)CHRM1
WikiGenes1128
SOURCE (Princeton)CHRM1
Genetics Home Reference (NIH)CHRM1
Genomic and cartography
GoldenPath hg38 (UCSC)CHRM1  -     chr11:62908679-62921540 -  11q12.3   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHRM1  -     11q12.3   [Description]    (hg19-Feb_2009)
EnsemblCHRM1 - 11q12.3 [CytoView hg19]  CHRM1 - 11q12.3 [CytoView hg38]
Mapping of homologs : NCBICHRM1 [Mapview hg19]  CHRM1 [Mapview hg38]
OMIM118510   
Gene and transcription
Genbank (Entrez)AF385587 AF498915 AJ006520 AK312374 BC007740
RefSeq transcript (Entrez)NM_000738
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHRM1
Cluster EST : UnigeneHs.632119 [ NCBI ]
CGAP (NCI)Hs.632119
Alternative Splicing GalleryENSG00000168539
Gene ExpressionCHRM1 [ NCBI-GEO ]   CHRM1 [ EBI - ARRAY_EXPRESS ]   CHRM1 [ SEEK ]   CHRM1 [ MEM ]
Gene Expression Viewer (FireBrowse)CHRM1 [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1128
GTEX Portal (Tissue expression)CHRM1
Human Protein AtlasENSG00000168539-CHRM1 [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP11229   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP11229  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP11229
Splice isoforms : SwissVarP11229
PhosPhoSitePlusP11229
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_M1_rcpt    Musac_Ach_rcpt   
Domain families : Pfam (Sanger)7tm_1 (PF00001)   
Domain families : Pfam (NCBI)pfam00001   
Conserved Domain (NCBI)CHRM1
DMDM Disease mutations1128
Blocks (Seattle)CHRM1
PDB (SRS)5CXV   
PDB (PDBSum)5CXV   
PDB (IMB)5CXV   
PDB (RSDB)5CXV   
Structural Biology KnowledgeBase5CXV   
SCOP (Structural Classification of Proteins)5CXV   
CATH (Classification of proteins structures)5CXV   
SuperfamilyP11229
Human Protein Atlas [tissue]ENSG00000168539-CHRM1 [tissue]
Peptide AtlasP11229
HPRD00338
IPIIPI00298980   IPI01011091   IPI01009740   
Protein Interaction databases
DIP (DOE-UCLA)P11229
IntAct (EBI)P11229
FunCoupENSG00000168539
BioGRIDCHRM1
STRING (EMBL)CHRM1
ZODIACCHRM1
Ontologies - Pathways
QuickGOP11229
Ontology : AmiGOregulation of vascular smooth muscle contraction  phosphatidylinositol phospholipase C activity  plasma membrane  integral component of plasma membrane  cellular protein modification process  signal transduction  G-protein coupled receptor signaling pathway  adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway  protein kinase C-activating G-protein coupled receptor signaling pathway  phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway  G-protein coupled acetylcholine receptor signaling pathway  synaptic transmission, cholinergic  neuromuscular synaptic transmission  nervous system development  drug binding  cell proliferation  positive regulation of cell proliferation  postsynaptic density  membrane  G-protein coupled acetylcholine receptor activity  cell junction  dendrite  regulation of locomotion  positive regulation of ion transport  axon terminus  synapse  postsynaptic membrane  saliva secretion  cognition  positive regulation of intracellular protein transport  
Ontology : EGO-EBIregulation of vascular smooth muscle contraction  phosphatidylinositol phospholipase C activity  plasma membrane  integral component of plasma membrane  cellular protein modification process  signal transduction  G-protein coupled receptor signaling pathway  adenylate cyclase-inhibiting G-protein coupled acetylcholine receptor signaling pathway  protein kinase C-activating G-protein coupled receptor signaling pathway  phospholipase C-activating G-protein coupled acetylcholine receptor signaling pathway  G-protein coupled acetylcholine receptor signaling pathway  synaptic transmission, cholinergic  neuromuscular synaptic transmission  nervous system development  drug binding  cell proliferation  positive regulation of cell proliferation  postsynaptic density  membrane  G-protein coupled acetylcholine receptor activity  cell junction  dendrite  regulation of locomotion  positive regulation of ion transport  axon terminus  synapse  postsynaptic membrane  saliva secretion  cognition  positive regulation of intracellular protein transport  
Pathways : BIOCARTABlockade of Neurotransmitter Relase by Botulinum Toxin [Genes]    Actions of Nitric Oxide in the Heart [Genes]    Agrin in Postsynaptic Differentiation [Genes]    G-Protein Signaling Through Tubby Proteins [Genes]   
Pathways : KEGGNeuroactive ligand-receptor interaction    Calcium signaling pathway    Regulation of actin cytoskeleton   
NDEx NetworkCHRM1
Atlas of Cancer Signalling NetworkCHRM1
Wikipedia pathwaysCHRM1
Orthology - Evolution
OrthoDB1128
GeneTree (enSembl)ENSG00000168539
Phylogenetic Trees/Animal Genes : TreeFamCHRM1
HOVERGENP11229
HOGENOMP11229
Homologs : HomoloGeneCHRM1
Homology/Alignments : Family Browser (UCSC)CHRM1
Gene fusions - Rearrangements
Fusion : MitelmanSYTL2/CHRM1 [11q14.1/11q12.3]  [t(11;11)(q12;q14)]  
Fusion PortalSYTL2 11q14.1 CHRM1 11q12.3 BRCA
Fusion : QuiverCHRM1
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHRM1 [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHRM1
dbVarCHRM1
ClinVarCHRM1
1000_GenomesCHRM1 
Exome Variant ServerCHRM1
ExAC (Exome Aggregation Consortium)ENSG00000168539
GNOMAD BrowserENSG00000168539
Genetic variants : HAPMAP1128
Genomic Variants (DGV)CHRM1 [DGVbeta]
DECIPHERCHRM1 [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHRM1 
Mutations
ICGC Data PortalCHRM1 
TCGA Data PortalCHRM1 
Broad Tumor PortalCHRM1
OASIS PortalCHRM1 [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHRM1  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHRM1
LOVD (Leiden Open Variation Database)Whole genome datasets
LOVD (Leiden Open Variation Database)LOVD 3.0 shared installation
BioMutasearch CHRM1
DgiDB (Drug Gene Interaction Database)CHRM1
DoCM (Curated mutations)CHRM1 (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHRM1 (select a term)
intoGenCHRM1
Cancer3DCHRM1(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118510   
Orphanet
DisGeNETCHRM1
MedgenCHRM1
Genetic Testing Registry CHRM1
NextProtP11229 [Medical]
TSGene1128
GENETestsCHRM1
Target ValidationCHRM1
Huge Navigator CHRM1 [HugePedia]
snp3D : Map Gene to Disease1128
BioCentury BCIQCHRM1
ClinGenCHRM1
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1128
Chemical/Pharm GKB GenePA26484
Clinical trialCHRM1
Miscellaneous
canSAR (ICR)CHRM1 (select the gene name)
Probes
Litterature
PubMed114 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHRM1
EVEXCHRM1
GoPubMedCHRM1
iHOPCHRM1
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

Search in all EBI   NCBI

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indexed on : Fri Jun 22 16:19:27 CEST 2018
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