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mutLBSgeneDB |
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| Gene summary for COMT |
 Gene summary |
| Basic gene Info. | Gene symbol | COMT |
| Gene name | catechol-O-methyltransferase | |
| Synonyms | HEL-S-98n | |
| Cytomap | UCSC genome browser: 22q11.21 | |
| Type of gene | protein-coding | |
| RefGenes | NM_000754.3, NM_001135161.1,NM_001135162.1,NM_007310.2, | |
| Description | catechol O-methyltransferaseepididymis secretory sperm binding protein Li 98n | |
| Modification date | 20141222 | |
| dbXrefs | MIM : 116790 | |
| HGNC : HGNC | ||
| Ensembl : ENSG00000093010 | ||
| HPRD : 00284 | ||
| Vega : OTTHUMG00000150529 | ||
| Protein | UniProt: P21964 go to UniProt's Cross Reference DB Table | |
| Expression | CleanEX: HS_COMT | |
| BioGPS: 1312 | ||
| Pathway | NCI Pathway Interaction Database: COMT | |
| KEGG: COMT | ||
| REACTOME: COMT | ||
| Pathway Commons: COMT | ||
| Context | iHOP: COMT | |
| ligand binding site mutation search in PubMed: COMT | ||
| UCL Cancer Institute: COMT | ||
| Assigned class in mutLBSgeneDB | B: This gene belongs to targetable_mutLBSgenes. | |
| Gene ontology having evidence of Inferred from Direct Assay (IDA) from Entrez |
| GO ID | GO Term | PubMed ID |
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| Ligand binding site mutations for COMT |
| Lollipop-style diagram of mutations at LBS in amino-acid sequence. We represented ligand binding site mutations only. (You can see big image via clicking.)  : non-synonymous mutation on LBS, Circle size denotes number of samples. |
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| Cancer type specific mutLBS sorted by frequency |
| LBS | AAchange of nsSNV | Cancer type | # samples | S122 | S122L | BLCA | 1 | H192 | H192Y | SKCM | 1 | R196 | R196W | STAD | 1 | R251 | R251M | STAD | 1 | R196 | L198M | STAD | 1 |
| cf) Cancer type abbreviation. BLCA: Bladder urothelial carcinoma, BRCA: Breast invasive carcinoma, CESC: Cervical squamous cell carcinoma and endocervical adenocarcinoma, COAD: Colon adenocarcinoma, GBM: Glioblastoma multiforme, LGG: Brain lower grade glioma, HNSC: Head and neck squamous cell carcinoma, KICH: Kidney chromophobe, KIRC: Kidney renal clear cell carcinoma, KIRP: Kidney renal papillary cell carcinoma, LAML: Acute myeloid leukemia, LUAD: Lung adenocarcinoma, LUSC: Lung squamous cell carcinoma, OV: Ovarian serous cystadenocarcinoma, PAAD: Pancreatic adenocarcinoma, PRAD: Prostate adenocarcinoma, SKCM: Skin cutaneous melanoma, STAD: Stomach adenocarcinoma, THCA: Thyroid carcinoma, UCEC: Uterine corpus endometrial carcinoma. |
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| Protein structure related information for COMT |
| Relative protein structure stability change (ΔΔE) using Mupro 1.1 Mupro score denotes assessment of the effect of mutations on thermodynamic stability. (ΔΔE<0: mutation decreases stability, ΔΔE>0: mutation increases stability) |
 : nsSNV at non-LBS : nsSNV at LBS |
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| nsSNVs sorted by the relative stability change of protein structure by each mutation Blue: mutations of positive stability change. and red : the most recurrent mutation for this gene. |
| LBS | AAchange of nsSNV | Relative stability change | S122 | S122L | 0.082024263 | R196 | L198M | -1.2730541 | H192 | H192Y | -1.1563312 | R196 | R196W | -0.75332361 | R251 | R251M | -0.69818249 |
| (MuPro1.1: Jianlin Cheng et al., Prediction of Protein Stability Changes for Single-Site Mutations Using Support Vector Machines, PROTEINS: Structure, Function, and Bioinformatics. 2006, 62:1125-1132) |
| Structure image for COMT from PDB |
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| Differential gene expression and gene-gene network for COMT |
| Differential gene expression between mutated and non-mutated LBS samples in all 16 major cancer types |
| Differential co-expressed gene network based on protein-protein interaction data (CePIN) |
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| Phenotype information for COMT |
| Gene level disease information (DisGeNet) |
| Disease ID | Disease name | # PubMed | Association type |
| umls:C0036341 | Schizophrenia | 268 | AlteredExpression, Biomarker, GeneticVariation, PostTranslationalModification |
| umls:C1263846 | Attention Deficit Disorder with Hyperactivity | 60 | Biomarker, GeneticVariation |
| umls:C0005586 | Bipolar Disorder | 48 | Biomarker, GeneticVariation, PostTranslationalModification |
| umls:C0004936 | Mental Disorders | 36 | Biomarker, GeneticVariation |
| umls:C0001973 | Alcoholism | 27 | Biomarker, GeneticVariation |
| umls:C0030193 | Pain | 26 | Biomarker, GeneticVariation |
| umls:C0012236 | DiGeorge Syndrome | 25 | Biomarker, GeneticVariation |
| umls:C0030319 | Panic Disorder | 22 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C1458155 | Breast Neoplasms | 11 | AlteredExpression, Biomarker, GeneticVariation |
| umls:C0004352 | Autistic Disorder | 5 | Biomarker, GeneticVariation |
| umls:C0236733 | Amphetamine-Related Disorders | 2 | Biomarker, GeneticVariation |
| umls:C0015934 | Fetal Growth Retardation | 2 | Biomarker, GeneticVariation |
| umls:C0024667 | Mammary Neoplasms, Animal | 2 | Biomarker, GeneticVariation |
| umls:C2239176 | Carcinoma, Hepatocellular | 2 | Biomarker |
| umls:C0236736 | Cocaine-Related Disorders | 1 | Biomarker, GeneticVariation |
| umls:C0031511 | Pheochromocytoma | 1 | Biomarker |
| umls:C0009241 | Cognition Disorders | 1 | Biomarker |
| umls:C2750088 | HEARING LOSS, CISPLATIN-INDUCED, SUSCEPTIBILITY TO | 1 | Biomarker |
| umls:C0033578 | Prostatic Neoplasms | 1 | Biomarker |
| Mutation level pathogenic information (ClinVar annotation) |
| Allele ID | AA change | Clinical significance | Origin | Phenotype IDs |
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| Pharmacological information for COMT |
| Gene expression profile of anticancer drug treated cell-lines (CCLE) Heatmap showing the correlation between gene expression and drug response across all the cell-lines. We chose the top 20 among 138 drugs.We used Pearson's correlation coefficient. |
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| Gene-centered drug-gene interaction network |
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| Drug information targeting mutLBSgene (Approved drugs only) |
| Drug status | DrugBank ID | Name | Type | Drug structure |
| Approved|nutraceutical | DB00118 | S-Adenosylmethionine | Small molecule |  |
| Approved|withdrawn | DB00323 | Tolcapone | Small molecule |  |
| Approved|investigational | DB00494 | Entacapone | Small molecule |  |
| Experimental | DB02105 | 3,5-Dinitrocatechol | Small molecule |  |
| Investigational | DB02342 | 2-Methoxyestradiol | Small molecule |  |
| Experimental | DB03336 | BIA | Small molecule |  |
| Experimental | DB03907 | N-{3-[5-(6-Amino-Purin-9-Yl)-3,4-Dihydroxy-Tetrahydro-Furan-2-Yl]-Allyl}-2,3-Dihydroxy-5-Nitro-Benzamide | Small molecule |  |
| Withdrawn | DB04820 | Nialamide | Small molecule |  |
| Experimental | DB07462 | (3,4-DIHYDROXY-2-NITROPHENYL)(PHENYL)METHANONE | Small molecule |  |
| Experimental | DB08049 | 7,8-dihydroxy-4-phenyl-2H-chromen-2-one | Small molecule |  |
| Gene-centered ligand-gene interaction network |
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| Ligands binding to mutated ligand binding site of COMT go to BioLip |
| Ligand ID | Ligand short name | Ligand long name | PDB ID | PDB name | mutLBS | 43H | [1-(BIPHENYL-3-YL)-5-HYDROXY-4-OXO-1,4-DIHYDROPYRIDIN- 3-YL]BORONIC ACID | 4xud | A | H192 | 43J | 2-(BIPHENYL-3-YL)-5-HYDROXY-3-METHYLPYRIMIDIN-4(3H)-ONE | 4xue | B | H192 | 43J | 2-(BIPHENYL-3-YL)-5-HYDROXY-3-METHYLPYRIMIDIN-4(3H)-ONE | 4xue | A | H192 | 43G | 1-(BIPHENYL-3-YL)-3-HYDROXYPYRIDIN-4(1H)-ONE | 4xuc | A | R251 | SAM | S-ADENOSYL-L-METHIONINE | 4xuc | A | S122 H192 | SAM | S-ADENOSYL-L-METHIONINE | 4xud | A | S122 H192 | SAM | S-ADENOSYL-L-METHIONINE | 4xue | B | S122 H192 | SAM | S-ADENOSYL-L-METHIONINE | 4xue | A | S122 H192 |
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| Conservation information for LBS of COMT |
| Multiple alignments for P21964 in multiple species |
| LBS | AA sequence | # species | Species | A117 | LLELGAYCGYS | 2 | Homo sapiens, Bos taurus | A117 | VLELGAYCGYS | 2 | Mus musculus, Rattus norvegicus | A117 | MIELGGYVGYS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A117 | MVELGGYLGYS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A168 | TLVVGASQDII | 1 | Homo sapiens | A168 | TVVLGASQDII | 1 | Bos taurus | A168 | SILIGASQDLI | 1 | Mus musculus | A168 | TILNGASQDLI | 1 | Rattus norvegicus | A168 | TIIVGKATDSL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | A168 | TIMIGKACDSL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C145 | EINPDCAAITQ | 1 | Homo sapiens | C145 | EFNPDYAAITQ | 1 | Bos taurus | C145 | EINPDYAAITQ | 1 | Mus musculus | C145 | EMNPDYAAITQ | 1 | Rattus norvegicus | C145 | EVNPKFAKIAS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C145 | EVNEDYAKIAY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C223 | ADNVIVPGTPD | 2 | Mus musculus, Rattus norvegicus | C223 | ADNVICPGAPD | 1 | Homo sapiens | C223 | ADNVIYPGAPD | 1 | Bos taurus | C223 | ADNILRPGVPE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | C223 | ADNIITPGAPE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D191 | DMVFLDHWKDR | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D191 | DFVFIDHWKDL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D191 | DMVFIDHWKDL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D195 | LDHWKDRYLPD | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | D195 | IDHWKDLYVPD | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D219 | TVLLADNVIVP | 2 | Mus musculus, Rattus norvegicus | D219 | TVLLADNVICP | 1 | Homo sapiens | D219 | TVLLADNVIYP | 1 | Bos taurus | D219 | SIIAADNILRP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | D219 | TLLVADNIITP | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E114 | PSVLLELGAYC | 2 | Homo sapiens, Bos taurus | E114 | PSLVLELGAYC | 2 | Mus musculus, Rattus norvegicus | E114 | PKVMIELGGYV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E114 | PKIMVELGGYL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E140 | RLITIEINPDC | 1 | Homo sapiens | E140 | RLLTIEFNPDY | 1 | Bos taurus | E140 | RLLTMEINPDY | 1 | Mus musculus | E140 | RLLTMEMNPDY | 1 | Rattus norvegicus | E140 | HYYSLEVNPKF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E140 | RYYSLEVNEDY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E249 | ---YLEYMKVV | 2 | Mus musculus, Rattus norvegicus | E249 | ---FLEYREVV | 1 | Homo sapiens | E249 | ---YLEYSKVV | 1 | Bos taurus | E249 | GPQFIGKWNII | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E249 | GFDFIGRWDLI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E252 | YLEYMKVVDGL | 2 | Mus musculus, Rattus norvegicus | E252 | FLEYREVVDGL | 1 | Homo sapiens | E252 | YLEYSKVVDGL | 1 | Bos taurus | E252 | FIGKWNIIYKS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | E252 | FIGRWDLIYKT | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G116 | VLLELGAYCGY | 2 | Homo sapiens, Bos taurus | G116 | LVLELGAYCGY | 2 | Mus musculus, Rattus norvegicus | G116 | VMIELGGYVGY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G116 | IMVELGGYLGY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G167 | VTLVVGASQDI | 1 | Homo sapiens | G167 | VTVVLGASQDI | 1 | Bos taurus | G167 | VSILIGASQDL | 1 | Mus musculus | G167 | VTILNGASQDL | 1 | Rattus norvegicus | G167 | VTIIVGKATDS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | G167 | VTIMIGKACDS | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H192 | MVFLDHWKDRY | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | H192 | FVFIDHWKDLY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | H192 | MVFIDHWKDLY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I139 | ARLITIEINPD | 1 | Homo sapiens | I139 | ARLLTIEFNPD | 1 | Bos taurus | I139 | ARLLTMEINPD | 1 | Mus musculus | I139 | ARLLTMEMNPD | 1 | Rattus norvegicus | I139 | AHYYSLEVNPK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I139 | GRYYSLEVNED | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I141 | LITIEINPDCA | 1 | Homo sapiens | I141 | LLTIEFNPDYA | 1 | Bos taurus | I141 | LLTMEINPDYA | 1 | Mus musculus | I141 | LLTMEMNPDYA | 1 | Rattus norvegicus | I141 | YYSLEVNPKFA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | I141 | YYSLEVNEDYA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | K194 | FLDHWKDRYLP | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | K194 | FIDHWKDLYVP | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L248 | ----YLEYMKV | 2 | Mus musculus, Rattus norvegicus | L248 | ----FLEYREV | 1 | Homo sapiens | L248 | ----YLEYSKV | 1 | Bos taurus | L248 | NGPQFIGKWNI | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | L248 | NGFDFIGRWDL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M90 | QKEWAMNVGDK | 1 | Homo sapiens | M90 | EKEWAMHVGEK | 1 | Bos taurus | M90 | EKEWAMNVGDA | 1 | Mus musculus | M90 | QKEWAMNVGDA | 1 | Rattus norvegicus | M90 | QGHFLMNIGKL | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | M90 | GSGVRMCIGDV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N220 | VLLADNVIVPG | 2 | Mus musculus, Rattus norvegicus | N220 | VLLADNVICPG | 1 | Homo sapiens | N220 | VLLADNVIYPG | 1 | Bos taurus | N220 | IIAADNILRPG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N220 | LLVADNIITPG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N91 | KEWAMNVGDAK | 2 | Mus musculus, Rattus norvegicus | N91 | KEWAMNVGDKK | 1 | Homo sapiens | N91 | KEWAMHVGEKK | 1 | Bos taurus | N91 | GHFLMNIGKLK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | N91 | SGVRMCIGDVK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P224 | DNVIVPGTPDF | 2 | Mus musculus, Rattus norvegicus | P224 | DNVICPGAPDF | 1 | Homo sapiens | P224 | DNVIYPGAPDF | 1 | Bos taurus | P224 | DNILRPGVPEY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | P224 | DNIITPGAPEY | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q170 | VVGASQDIIPQ | 1 | Homo sapiens | Q170 | VLGASQDIIPQ | 1 | Bos taurus | Q170 | LIGASQDLIPQ | 1 | Mus musculus | Q170 | LNGASQDLIPQ | 1 | Rattus norvegicus | Q170 | IVGKATDSLVE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Q170 | MIGKACDSLVE | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R196 | DHWKDRYLPDT | 3 | Homo sapiens, Mus musculus, Rattus norvegicus | R196 | DHWKDLYVPDL | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R196 | DHWKDRYLPDM | 1 | Bos taurus | R251 | -YLEYMKVVDG | 2 | Mus musculus, Rattus norvegicus | R251 | -FLEYREVVDG | 1 | Homo sapiens | R251 | -YLEYSKVVDG | 1 | Bos taurus | R251 | QFIGKWNIIYK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | R251 | DFIGRWDLIYK | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S122 | AYCGYSAVRMA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | S122 | GYVGYSAILFG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S122 | GYLGYSAILFG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S169 | LVVGASQDIIP | 1 | Homo sapiens | S169 | VVLGASQDIIP | 1 | Bos taurus | S169 | ILIGASQDLIP | 1 | Mus musculus | S169 | ILNGASQDLIP | 1 | Rattus norvegicus | S169 | IIVGKATDSLV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | S169 | IMIGKACDSLV | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V92 | EWAMNVGDAKG | 2 | Mus musculus, Rattus norvegicus | V92 | EWAMNVGDKKG | 1 | Homo sapiens | V92 | EWAMHVGEKKG | 1 | Bos taurus | V92 | HFLMNIGKLKG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | V92 | GVRMCIGDVKG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W193 | VFLDHWKDRYL | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | W193 | VFIDHWKDLYV | 2 | Schizosaccharomyces pombe (strain 972 / ATCC 24843), Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W88 | CEQKEWAMNVG | 1 | Homo sapiens | W88 | SLEKEWAMHVG | 1 | Bos taurus | W88 | CSEKEWAMNVG | 1 | Mus musculus | W88 | CTQKEWAMNVG | 1 | Rattus norvegicus | W88 | VEQGHFLMNIG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | W88 | PDGSGVRMCIG | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y118 | LELGAYCGYSA | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y118 | IELGGYVGYSA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y118 | VELGGYLGYSA | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y121 | GAYCGYSAVRM | 4 | Homo sapiens, Bos taurus, Mus musculus, Rattus norvegicus | Y121 | GGYVGYSAILF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) | Y121 | GGYLGYSAILF | 1 | Schizosaccharomyces pombe (strain 972 / ATCC 24843) |
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