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CHAT (choline O-acetyltransferase)

Identity

Alias_namescholine acetyltransferase
Other aliasCHOACTASE
CMS1A
CMS1A2
CMS6
HGNC (Hugo) CHAT
LocusID (NCBI) 1103
Atlas_Id 50359
Location 10q11.23  [Link to chromosome band 10q11]
Location_base_pair Starts at 49614037 and ends at 49665104 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)CHAT   1912
Cards
Entrez_Gene (NCBI)CHAT  1103  choline O-acetyltransferase
AliasesCHOACTASE; CMS1A; CMS1A2; CMS6
GeneCards (Weizmann)CHAT
Ensembl hg19 (Hinxton)ENSG00000070748 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000070748 [Gene_View]  chr10:49614037-49665104 [Contig_View]  CHAT [Vega]
ICGC DataPortalENSG00000070748
TCGA cBioPortalCHAT
AceView (NCBI)CHAT
Genatlas (Paris)CHAT
WikiGenes1103
SOURCE (Princeton)CHAT
Genetics Home Reference (NIH)CHAT
Genomic and cartography
GoldenPath hg38 (UCSC)CHAT  -     chr10:49614037-49665104 +  10q11.23   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)CHAT  -     10q11.23   [Description]    (hg19-Feb_2009)
EnsemblCHAT - 10q11.23 [CytoView hg19]  CHAT - 10q11.23 [CytoView hg38]
Mapping of homologs : NCBICHAT [Mapview hg19]  CHAT [Mapview hg38]
OMIM118490   254210   
Gene and transcription
Genbank (Entrez)AF305907 AF305908 AF305909 AF450452 BC130615
RefSeq transcript (Entrez)NM_001142929 NM_001142933 NM_001142934 NM_020549 NM_020984 NM_020985 NM_020986
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)CHAT
Cluster EST : UnigeneHs.302002 [ NCBI ]
CGAP (NCI)Hs.302002
Alternative Splicing GalleryENSG00000070748
Gene ExpressionCHAT [ NCBI-GEO ]   CHAT [ EBI - ARRAY_EXPRESS ]   CHAT [ SEEK ]   CHAT [ MEM ]
Gene Expression Viewer (FireBrowse)CHAT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevestigatorExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1103
GTEX Portal (Tissue expression)CHAT
Human Protein AtlasENSG00000070748-CHAT [pathology]   [cell]   [tissue]
Protein : pattern, domain, 3D structure
UniProt/SwissProtP28329   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP28329  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP28329
Splice isoforms : SwissVarP28329
PhosPhoSitePlusP28329
Domaine pattern : Prosite (Expaxy)ACYLTRANSF_C_1 (PS00439)    ACYLTRANSF_C_2 (PS00440)   
Domains : Interpro (EBI)Carn_acyl_trans   
Domain families : Pfam (Sanger)Carn_acyltransf (PF00755)   
Domain families : Pfam (NCBI)pfam00755   
Conserved Domain (NCBI)CHAT
DMDM Disease mutations1103
Blocks (Seattle)CHAT
PDB (SRS)2FY2    2FY3    2FY4    2FY5   
PDB (PDBSum)2FY2    2FY3    2FY4    2FY5   
PDB (IMB)2FY2    2FY3    2FY4    2FY5   
PDB (RSDB)2FY2    2FY3    2FY4    2FY5   
Structural Biology KnowledgeBase2FY2    2FY3    2FY4    2FY5   
SCOP (Structural Classification of Proteins)2FY2    2FY3    2FY4    2FY5   
CATH (Classification of proteins structures)2FY2    2FY3    2FY4    2FY5   
SuperfamilyP28329
Human Protein Atlas [tissue]ENSG00000070748-CHAT [tissue]
Peptide AtlasP28329
HPRD07510
IPIIPI00305227   IPI00220707   IPI00220708   IPI01010983   
Protein Interaction databases
DIP (DOE-UCLA)P28329
IntAct (EBI)P28329
FunCoupENSG00000070748
BioGRIDCHAT
STRING (EMBL)CHAT
ZODIACCHAT
Ontologies - Pathways
QuickGOP28329
Ontology : AmiGOcholine O-acetyltransferase activity  nucleus  cytoplasm  cytosol  phosphatidylcholine biosynthetic process  neurotransmitter secretion  neurotransmitter biosynthetic process  presynapse  
Ontology : EGO-EBIcholine O-acetyltransferase activity  nucleus  cytoplasm  cytosol  phosphatidylcholine biosynthetic process  neurotransmitter secretion  neurotransmitter biosynthetic process  presynapse  
Pathways : KEGGGlycerophospholipid metabolism    Cholinergic synapse   
NDEx NetworkCHAT
Atlas of Cancer Signalling NetworkCHAT
Wikipedia pathwaysCHAT
Orthology - Evolution
OrthoDB1103
GeneTree (enSembl)ENSG00000070748
Phylogenetic Trees/Animal Genes : TreeFamCHAT
HOVERGENP28329
HOGENOMP28329
Homologs : HomoloGeneCHAT
Homology/Alignments : Family Browser (UCSC)CHAT
Gene fusions - Rearrangements
Fusion: Tumor Portal CHAT
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCHAT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)CHAT
dbVarCHAT
ClinVarCHAT
1000_GenomesCHAT 
Exome Variant ServerCHAT
ExAC (Exome Aggregation Consortium)ENSG00000070748
GNOMAD BrowserENSG00000070748
Genetic variants : HAPMAP1103
Genomic Variants (DGV)CHAT [DGVbeta]
DECIPHERCHAT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCHAT 
Mutations
ICGC Data PortalCHAT 
TCGA Data PortalCHAT 
Broad Tumor PortalCHAT
OASIS PortalCHAT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCHAT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCHAT
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
LOVD (Leiden Open Variation Database)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch CHAT
DgiDB (Drug Gene Interaction Database)CHAT
DoCM (Curated mutations)CHAT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)CHAT (select a term)
intoGenCHAT
Cancer3DCHAT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM118490    254210   
Orphanet13931   
MedgenCHAT
Genetic Testing Registry CHAT
NextProtP28329 [Medical]
TSGene1103
GENETestsCHAT
Target ValidationCHAT
Huge Navigator CHAT [HugePedia]
snp3D : Map Gene to Disease1103
BioCentury BCIQCHAT
ClinGenCHAT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1103
Chemical/Pharm GKB GenePA26448
Clinical trialCHAT
Miscellaneous
canSAR (ICR)CHAT (select the gene name)
Probes
Litterature
PubMed94 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCHAT
EVEXCHAT
GoPubMedCHAT
iHOPCHAT
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 12:44:35 CET 2017

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