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COMT (catechol-O-methyltransferase)

Identity

Other aliasHEL-S-98n
HGNC (Hugo) COMT
LocusID (NCBI) 1312
Atlas_Id 40130
Location 22q11.21  [Link to chromosome band 22q11]
Location_base_pair Starts at 19941740 and ends at 19969975 bp from pter ( according to hg38-Dec_2013)
Fusion genes
(updated 2016)
COMT (22q11.21) / COMT (22q11.21)COMT (22q11.21) / MAP7D1 (1p34.3)COMT (22q11.21) / NICN1 (3p21.31)
COMT (22q11.21) / PCBP2 (12q13.13)COMT (22q11.21) / THBS3 (1q22)IQSEC1 (3p25.2) / COMT (22q11.21)
MED15 (22q11.21) / COMT (22q11.21)MED15 22q11.21 / COMT 22q11.21

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)COMT   2228
LRG (Locus Reference Genomic)LRG_1010
Cards
Entrez_Gene (NCBI)COMT  1312  catechol-O-methyltransferase
AliasesHEL-S-98n
GeneCards (Weizmann)COMT
Ensembl hg19 (Hinxton)ENSG00000093010 [Gene_View]
Ensembl hg38 (Hinxton)ENSG00000093010 [Gene_View]  chr22:19941740-19969975 [Contig_View]  COMT [Vega]
ICGC DataPortalENSG00000093010
TCGA cBioPortalCOMT
AceView (NCBI)COMT
Genatlas (Paris)COMT
WikiGenes1312
SOURCE (Princeton)COMT
Genetics Home Reference (NIH)COMT
Genomic and cartography
GoldenPath hg38 (UCSC)COMT  -     chr22:19941740-19969975 +  22q11.21   [Description]    (hg38-Dec_2013)
GoldenPath hg19 (UCSC)COMT  -     22q11.21   [Description]    (hg19-Feb_2009)
EnsemblCOMT - 22q11.21 [CytoView hg19]  COMT - 22q11.21 [CytoView hg38]
Mapping of homologs : NCBICOMT [Mapview hg19]  COMT [Mapview hg38]
OMIM116790   167870   181500   
Gene and transcription
Genbank (Entrez)###############################################################################################################################################################################################################################################################
RefSeq transcript (Entrez)NM_000754 NM_001135161 NM_001135162 NM_007310
RefSeq genomic (Entrez)
Consensus coding sequences : CCDS (NCBI)COMT
Cluster EST : UnigeneHs.738526 [ NCBI ]
CGAP (NCI)Hs.738526
Alternative Splicing GalleryENSG00000093010
Gene ExpressionCOMT [ NCBI-GEO ]   COMT [ EBI - ARRAY_EXPRESS ]   COMT [ SEEK ]   COMT [ MEM ]
Gene Expression Viewer (FireBrowse)COMT [ Firebrowse - Broad ]
SOURCE (Princeton)Expression in : [Datasets]   [Normal Tissue Atlas]  [carcinoma Classsification]  [NCI60]
GenevisibleExpression in : [tissues]  [cell-lines]  [cancer]  [perturbations]  
BioGPS (Tissue expression)1312
GTEX Portal (Tissue expression)COMT
Protein : pattern, domain, 3D structure
UniProt/SwissProtP21964   [function]  [subcellular_location]  [family_and_domains]  [pathology_and_biotech]  [ptm_processing]  [expression]  [interaction]
NextProtP21964  [Sequence]  [Exons]  [Medical]  [Publications]
With graphics : InterProP21964
Spdi#e isoforms : SwissVarP21964
PhosPhoSitePlusP21964
Domaine pattern : Prosite (Expaxy)SAM_OMT_I (PS51682)   
Domains : Interpro (EBI)Catechol_O-MeTrfase_euk    O-MeTrfase_3    SAM-dependent_MTases   
Domain families : Pfam (Sanger)Methyltransf_3 (PF01596)   
Domain families : Pfam (NCBI)pfam01596   
Conserved Domain (NCBI)COMT
DMDM Disease mutations1312
Blocks (Seattle)COMT
PDB (SRS)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA   
PDB (PDBSum)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA   
PDB (IMB)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA   
PDB (RSDB)3A7E    3BWM    ,A HRMF}http://www.rcsb.org/pdb/cgi/explore.cgi?pdbId=3bwy TARGET=PDB>3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA   
Structural Biology KnowledgeBase3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA   
SCOP (Structural Classification of Proteins)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA   
CATH (Classification of proteins structures)3A7E    3BWM    3BWY    4PYI    4PYJ    4PYK    4XUC    4XUD    4XUE    5LSA   
SuperfamilyP21964
Human Protein AtlasENSG00000093010
Peptide AtlasP21964
HPRD00284
IPIIPI00011284   IPI00375513   IPI00878855   IPI00880186   IPI00878765   IPI00878254   
Protein Interaction databases
DIP (DOE-UCLA)P21964
IntAct (EBI)P21964
FunCoupENSG00000093010
BioGRIDCOMT
STRING (EMBL)COMT
ZODIACCOMT
Ontologies - Pathways
QuickGOP21964
Ontology : AmiGOmagnesium ion binding  protein binding  mitochondrion  cytosol  plasma membrane  female pregnancy  learning  short-term memory  methyltransferase activity  O-methyltransferase activity  estrogen metabolic process  response to organic cyclic compound  membrane  integral component of membrane  cellular response to phosphate starvation  catechol O-methyltransferase activity  axon  methylation  response to lipopolysaccharide  developmental process  negative regulation of renal sodium excretion  neurotransmitter catabolic process  dopamine catabolic process  response to drug  dendritic spine  cell body  postsynaptic membrane  negative regulation of dopamine metabolic process  response to pain  multicellular organismal reproductive process  negative regulation of smooth muscle cell proliferation  positive regulation of homocysteine metabolic process  regulation of sensory perception of pain  extracellular exosome  L-dopa O-methyltransferase activity  
Ontology : EGO-EBImagnesium ion binding  protein binding  mitochondrion  cytosol  plasma membrane  female pregnancy  learning  short-term memory  methyltransferase activity  O-methyltransferase activity  estrogen metabolic process  response to organic cyclic compound  membrane  integral component of membrane  cellular response to phosphate starvation  catechol O-methyltransferase activity  axon  methylation  response to lipopolysaccharide  developmental process  negative regulation of renal sodium excretion  neurotransmitter catabolic process  dopamine catabolic process  response to drug  dendritic spine  cell body  postsynaptic membrane  negative regulation of dopamine metabolic process  response to pain  multicellular organismal reproductive process  negative regulation of smooth muscle cell proliferation  positive regulation of homocysteine metabolic process  regulation of sensory perception of pain  extracellular exosome  L-dopa O-methyltransferase activity  
Pathways : KEGGSteroid hormone biosynthesis    Tyrosine metabolism    Dopaminergic synapse   
NDEx NetworkCOMT
Atlas of Cancer Signalling NetworkCOMT
Wikipedia pathwaysCOMT
Orthology - Evolution
OrthoDB1312
GeneTree (enSembl)ENSG00000093010
Phylogenetic Trees/Animal Genes : TreeFamCOMT
HOVERGENP21964
HOGENOMP21964
Homologs : HomoloGeneCOMT
Homology/Alignments : Family Browser (UCSC)COMT
Gene fusions - Rearrangements
Fusion : MitelmanMED15/COMT [22q11.21/22q11.21]  [t(22;22)(q11;q11)]  
Fusion: TCGAMED15 22q11.21 COMT 22q11.21 GBM
Polymorphisms : SNP and Copy number variants
NCBI Variation ViewerCOMT [hg38]
dbSNP Single Nucleotide Polymorphism (NCBI)COMT
dbVarCOMT
ClinVarCOMT
1000_GenomesCOMT 
Exome Variant ServerCOMT
ExAC (Exome Aggregation Consortium)COMT (select the gene name)
Genetic variants : HAPMAP1312
Genomic Variants (DGV)COMT [DGVbeta]
DECIPHERCOMT [patients]   [syndromes]   [variants]   [genes]  
CONAN: Copy Number AnalysisCOMT 
Mutations
ICGC Data PortalCOMT 
TCGA Data PortalCOMT 
Broad Tumor PortalCOMT
OASIS PortalCOMT [ Somatic mutations - Copy number]
Somatic Mutations in Cancer : COSMICCOMT  [overview]  [genome browser]  [tissue]  [distribution]  
Mutations and Diseases : HGMDCOMT
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)MSeqDR-LSDB Mitochondrial Disease Locus Specific Database
BioMutasearch COMT
DgiDB (Drug Gene Interaction Database)COMT
DoCM (Curated mutations)COMT (select the gene name)
CIViC (Clinical Interpretations of Variants in Cancer)COMT (select a term)
intoGenCOMT
Cancer3DCOMT(select the gene name)
Impact of mutations[PolyPhen2] [SIFT Human Coding SNP] [Buck Institute : MutDB] [Mutation Assessor] [Mutanalyser]
Diseases
OMIM116790    167870    181500   
Orphanet126    19358    20573   
MedgenCOMT
Genetic Testing Registry COMT
NextProtP21964 [Medical]
TSGene1312
GENETestsCOMT
Target ValidationCOMT
Huge Navigator COMT [HugePedia]
snp3D : Map Gene to Disease1312
BioCentury BCIQCOMT
ClinGenCOMT
Clinical trials, drugs, therapy
Chemical/Protein Interactions : CTD1312
Chemical/Pharm GKB GenePA117
Clinical trialCOMT
Miscellaneous
canSAR (ICR)COMT (select the gene name)
Probes
Litterature
PubMed499 Pubmed reference(s) in Entrez
GeneRIFsGene References Into Functions (Entrez)
CoreMineCOMT
EVEXCOMT
GoPubMedCOMT
iHOPCOMT
Genes in titleautomatic search in PubMed
REVIEW articlesautomatic search in PubMed
Last year publicationsautomatic search in PubMed

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indexed on : Mon Sep 25 19:03:20 CEST 2017

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