AutismKB 2.0

Annotation Detail for TPMT


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Basic Information Top
Gene Symbol:TPMT ( - )
Gene Full Name: thiopurine S-methyltransferase
Band: 6p22.3
Quick LinksEntrez ID:7172; OMIM: 187680; Uniprot ID:TPMT_HUMAN; ENSEMBL ID: ENSG00000137364; HGNC ID: 12014
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00983Drug metabolism - other enzymes
Pathway IDPathway Name
Biological oxidations
No data
No data
Pathway IDPathway Name
500215Methylation
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1877Multiple sclerosis
2051Leukemia
2039Hyperhomocysteinemia
Desease Name
Drug Hypersensitivity
CANCER
PHARMACOGENOMIC
kidney transplant
RENAL
IMMUNE
hepatotoxicity leukopenia
METABOLIC
cirrhosis, biliary primary hepatitis, autoimmune
leukemia
No data
Desease Name
6-mercaptopurine sensitivity
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of TPMT mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of TPMT mRNAaffects expression 16483693
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of TPMT mRNAincreases expression 20440473
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of TPMT mRNAincreases expression 19150397
D016572 Cyclosporine Cyclosporine results in decreased expression of TPMT mRNAdecreases expression 20106945
C121718 dicyclanil dicyclanil results in increased expression of TPMT mRNAincreases expression 15664270
D005472 Fluorouracil TPMT protein affects the susceptibility to [Fluorouracil co-treated with irinotecan analog]affects cotreatment|affects response to substance 18927307
C051890 irinotecan irinotecan analog results in increased expression of TPMT mRNAincreases expression 18927307
C051890 irinotecan TPMT protein affects the susceptibility to [Fluorouracil co-treated with irinotecan analog]affects cotreatment|affects response to substance 18927307
D010634 Phenobarbital Phenobarbital results in increased expression of TPMT mRNAincreases expression 19270015
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of TPMT mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of TPMT mRNAincreases expression 17426115
C025643 vinclozolin vinclozolin affects the expression of TPMT mRNAaffects expression 19015723
C025643 vinclozolin vinclozolin results in decreased expression of TPMT mRNAdecreases expression 18042343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.636195326
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.5120127859 20464547
MESH:D000230 Adenocarcinoma Fluorouracil 4.5117638652
MESH:D000236 Adenoma Benzo(a)pyrene 2.736695378
MESH:D018248 Adenoma, Liver Cell dicyclanil 18.7017162532
MESH:D018248 Adenoma, Liver Cell Phenobarbital 18.7017620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 18.7016434500
MESH:D000740 Anemia Fluorouracil 3.8415504547 17963324 16511603
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2519183758
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.2919483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.1617474063 20146248
MESH:D001943 Breast Neoplasms Fluorouracil 2.1618357371 16557594 16110121 19217205 15136595 16595493 18608205
MESH:D002276 Carcinoid Tumor Fluorouracil 4.8916051944
MESH:D002277 Carcinoma Fluorouracil 3.6817121937
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.803084413
MESH:D006528 Carcinoma, Hepatocellular dicyclanil 6.8017162532
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 6.8017045692 17088986 16332177 17971768 18930000 16799960
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.801701930 6705139 20007298 17173139 20935162
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0718695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7620419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.7618986760 17066447 16757204 16280240
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.8720889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.8712371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.434080065
MESH:D002779 Cholestasis Cyclosporine 8.1019486331
MESH:D002779 Cholestasis pirinixic acid 8.1019176532
MESH:D003110 Colonic Neoplasms Fluorouracil 4.0417172411 17725105 17287894 16340194 17018589 17016597 18772588 16510598 15001691 17169374
MESH:D003110 Colonic Neoplasms irinotecan 4.0417287894 17725105
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.7618802399 17255274 20501625 17016601 18448328 17401013 16391804 16282729 15148649 17695437 18949393 18383874 15289873 17594712 18509181 14970324 17454858 18288408 16524972 16331619 16303861 17094418
MESH:D015179 Colorectal Neoplasms irinotecan 2.7617454858 16391804 15273666 17159606 18509181 18259882 16303861
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D007644 Darier Disease Fluorouracil 4.9916733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6219923254 16781746 16227642 14550746 11834606 11287661 2444490 12705907 15619225 19739265 16081117 11529661 16485898 11461765 12153990 17906064 16177239 10915739 12958197 11743745 17522070 19416960 14986274 12540782 17562736 11739529 10774834 14725611 19370779 18071297 16393943 16109766 12594235 15968718 19164858 18713872 19085960 19420014 10663392 12392966 11421492
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004421 Dystonia Phenobarbital 4.151851702
MESH:D004487 Edema pirinixic acid 2.6212083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.283659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.093922381 11558140
MESH:D004827 Epilepsy Phenobarbital 2.9520417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.676401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.437750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.213659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4220426865
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.4216530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.4217638652 15173087 16481741 16337965 16785472
MESH:D005234 Fatty Liver Cyclosporine 8.0319224547
MESH:D005234 Fatty Liver pirinixic acid 8.0320131406 19236843
MESH:D005355 Fibrosis Cyclosporine 3.3212168785 12639820
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D005910 Glioma Fluorouracil 2.9216145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.4815162350 18337622 15102660
MESH:D034381 Hearing Loss marker/mechanism 19898482
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7220471113
MESH:D006333 Heart Failure pirinixic acid 2.6220558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006529 Hepatomegaly Phenobarbital 9.0716109766
MESH:D006529 Hepatomegaly pirinixic acid 9.0719176532 16221962 18467677 19772884
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006973 Hypertension Cyclosporine 2.1410903974
MESH:D007248 Infertility, Male vinclozolin 3.1316467254
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.0515629191 12587719
MESH:D007674 Kidney Diseases Cyclosporine 6.0518776723 10903974 8314463
MESH:D007680 Kidney Neoplasms Cyclosporine 7.7912371664
MESH:D007680 Kidney Neoplasms Fluorouracil 7.7916985049
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9621047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3415474484
MESH:D008107 Liver Diseases Acetaminophen 4.0419014921 12587719 19784758 11587558 19460945 16610002 12969438 16611625
MESH:D008107 Liver Diseases Phenobarbital 4.0419363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3716871587 17185352
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.7921137059 20195826
MESH:D008113 Liver Neoplasms dicyclanil 14.7920118626
MESH:D008113 Liver Neoplasms Fluorouracil 14.7916603448 15113037 17045692 18383874
MESH:D008113 Liver Neoplasms Phenobarbital 14.7919812893 8742319 19482888 21047994 19073162 15975961
MESH:D008113 Liver Neoplasms pirinixic acid 14.7915890375 20007298 16377806
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 2.781399818 2563599 18308698 17172636 6150874
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.5018569708 20064080 18816296 6695378 17053015 20464547 20135361 18520028 20869020
MESH:D008175 Lung Neoplasms Fluorouracil 2.5015246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 4.9915086387
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 8.8916381670
MESH:D009062 Mouth Neoplasms Fluorouracil 8.8916757204 18986760
MESH:D052016 Mucositis irinotecan 5.2017159606
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.6717484760
MESH:D009362 Neoplasm Metastasis irinotecan 3.2218259882
MESH:D009369 Neoplasms Benzo(a)pyrene 8.6011141357
MESH:D009369 Neoplasms Fluorouracil 8.6018600527 16928823 18239605
MESH:D009369 Neoplasms pirinixic acid 8.6017405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4119348381 18481113
MESH:D009447 Neuroblastoma irinotecan 3.548761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9918514411
MESH:D017599 Neuroectodermal Tumors irinotecan 4.928761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5316436463
MESH:D009765 Obesity pirinixic acid 1.8420558911
MESH:D010018 Osteomalacia Phenobarbital 4.5617016548
MESH:D010146 Pain Acetaminophen 2.5016870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.5016500647 19003803 16929163 15113037
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.5016965848
MESH:D011230 Precancerous Conditions Cyclosporine 9.3912371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.392563599
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.0918220299 19015723 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1917292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.1918626508 19082440
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D019310 Pseudolymphoma Phenobarbital 4.7112752131
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1415538739 18722050 16160472 18286688
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D012640 Seizures Phenobarbital 2.7816876388 11442880 4039156 3137016
MESH:D003294 Seizures, Febrile Phenobarbital 5.026407741
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4319755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.5020155912 2093021
MESH:D013274 Stomach Neoplasms Fluorouracil 3.5018567086 16424979 16951190 15786421 19015929 17498489 17522103 17172411 18396642 19084572
MESH:D013274 Stomach Neoplasms irinotecan 3.5015723263
OMIM:610460 THIOPURINE S-METHYLTRANSFERASE DEFICIENCY marker/mechanism
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.161399818
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1216280240
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2217053015
MESH:D014581 Urticaria Acetaminophen 3.1210982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0116803524
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
REACT:13433 Biological oxidations
KEGG:00983 Drug metabolism - other enzymes
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA356
    • Releated gene ID Related gene Name
    PA134983397ATG7
    PA37132UBE2G2
    PA356TPMT
    Releated disease ID Related disease Name
    PA443622Carcinoma, Non-Small-Cell Lung
    PA444818Lung Neoplasms
    PA443937Drug Toxicity
    PA443560Breast Neoplasms
    PA445113Neutropenia
    PA165817398Myelosuppression
    PA444750Leukemia
    PA444760Leukemia, Myeloid, Acute
    PA446357Neoplasms, Second Primary
    PA444756Leukemia, Lymphoid
    PA445074Neoplasms, Radiation-Induced
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA446116Inflammatory Bowel Diseases
    PA443450Asthma
    PA444544Hyperplasia
    PA443815Crohn Disease
    PA446827Hematologic Neoplasms
    PA445062Neoplasms
    PA445555Rheumatic Diseases
    PA162263534Ototoxicity
    Releated drug ID Related drug Name
    PA449247dexamethasone
    PA450198leucovorin
    PA449383docetaxel
    PA448049adenosine
    PA450423l-methionine
    PA452634purine analogues
    PA448839cefazolin
    PA128406956fluorouracil
    PA450085irinotecan
    PA448492asparaginase
    PA449177cytarabine
    PA449212daunorubicin
    PA449552etoposide
    PA450379mercaptopurine
    PA450428methotrexate
    PA451100prednisone
    PA451879vincristine
    PA451663thioguanine
    PA448515azathioprine
    PA1318870083,4-methylenedioxymethamphetamine
    PA449470epinephrine
    PA452621antineoplastic agents
    PA451547sulfasalazine
    PA452604xenobiotics
    PA449014cisplatin
    Drug Bank Top
    No data
    Drugbank ID Action Drug Name Description
    DB00993 substrate Azathioprine Antirheumatic Agents;Antimetabolites;Immunosuppressive Agents;Antimetabolites, Antineoplastic
    DB01033 substrate Mercaptopurine Antineoplastic Agents;Antimetabolites;Immunosuppressive Agents;Nucleic Acid Synthesis Inhibitors;Purine analogues;Antimetabolites, Antineoplastic
    No data
    No data

    Simple Query:


      (e.g. CHD8)

    Syndromic Genes

    Non-syndromic Genes

    AutismKB Statistics

    • Studies: 1,036
    • Genes: 1,379
    • CNVs/SVs: 5,420
    • SNVs/Indels: 11,669
    • de novo Mutations: 5,669
    • Mosaics: 789
    • Linkage Regions: 172
    • Paper Collected: 6/30/2018
    • Last Update: 8/26/2018


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