AutismKB 2.0

Annotation Detail for PCMT1


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Basic Information Top
Gene Symbol:PCMT1 ( - )
Gene Full Name: protein-L-isoaspartate (D-aspartate) O-methyltransferase
Band: 6q25.1
Quick LinksEntrez ID:5110; OMIM: 176851; Uniprot ID:PIMT_HUMAN; ENSEMBL ID: ENSG00000120265; HGNC ID: 8728
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2064Spinal dysraphism
2237Neoplasm metastasis
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PCMT1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PCMT1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PCMT1 mRNAaffects expression 16483693
C018021 cobaltous chloride cobaltous chloride results in decreased expression of PCMT1 proteindecreases expression 16622835
D016572 Cyclosporine Cyclosporine results in increased expression of PCMT1 mRNAincreases expression 20106945
D008094 Lithium Lithium results in increased expression of PCMT1 mRNAincreases expression 19949822
D015741 Metribolone Metribolone affects the splicing of PCMT1 mRNAaffects splicing 17010196
C014707 nitrosobenzylmethylamine nitrosobenzylmethylamine results in increased expression of PCMT1 mRNAincreases expression 17616710
C006253 pirinixic acid pirinixic acid results in increased expression of PCMT1 mRNAincreases expression 18445702
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 3.8418287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7616434500
MESH:D000544 Alzheimer Disease Lithium 3.5019621015
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001714 Bipolar Disorder Lithium 4.4117594078 20338123 20046352 19153942
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3519483382
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.9016705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.903084413
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.036135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.0312371664
MESH:D002779 Cholestasis Cyclosporine 8.2619486331
MESH:D002779 Cholestasis pirinixic acid 8.2619176532
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2818551238
MESH:D007644 Darier Disease Lithium 6.2020338123
MESH:D017449 Dermatitis, Allergic Contact cobaltous chloride 4.2815059100 16823706 11298694
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D018500 Diabetes Insipidus, Nephrogenic Lithium 6.0019244398
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.8918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8912705907 17562736 14986274 19370779 18071297 10915739 16177239 14550746 17522070 11287661 16109766 16485898 11461765 10663392 12958197 12540782 12392966 19739265 16227642 19923254 16081117 2444490 16781746 11529661 19420014 11739529 11421492 12153990 11834606 11743745 19416960 17906064 10774834 19164858 19085960 18713872 14725611 12594235 15968718 16393943 15619225
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004487 Edema pirinixic acid 2.6812083418
MESH:D004938 Esophageal Neoplasms nitrosobenzylmethylamine 2.8216704527 16510608 15547721 15547733 15150132 15264214 15623463 15878914 16805852
MESH:D005234 Fatty Liver Cyclosporine 8.2519224547
MESH:D005234 Fatty Liver pirinixic acid 8.2519236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.4012168785 12639820
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.508708960
MESH:D006330 Heart Defects, Congenital Lithium 4.3119638421
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.7115720958
MESH:D006529 Hepatomegaly pirinixic acid 3.2518467677 19176532 16221962 19772884
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D006973 Hypertension Cyclosporine 2.1610903974
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7615604871
MESH:D007674 Kidney Diseases Acetaminophen 6.1612587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.168314463 10903974 18776723
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.8516705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8512371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.6716611625 19014921 11587558 12969438 12587719 19460945 16610002 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4317185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.637678174
MESH:D008113 Liver Neoplasms pirinixic acid 4.6316377806 20007298 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 2.662876786 2876784 6135515
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.1116801185
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction Lithium 6.3216288908
MESH:D009203 Myocardial Infarction pirinixic acid 6.3219151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.1518551238 7678174
MESH:D009369 Neoplasms pirinixic acid 2.0317405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4719348381 18481113
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6216049721
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.4012371664
MESH:D011565 Psoriasis Cyclosporine 2.2916882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012640 Seizures 2,6-dinitrotoluene 6.8518551238
MESH:D012640 Seizures Lithium 6.8519660546
MESH:D016135 Spinal Dysraphism marker/mechanism 16256389
MESH:D013226 Status Epilepticus Lithium 6.1019951488 19430551 19570321
MESH:D013274 Stomach Neoplasms nitrosobenzylmethylamine 2.3317575124 12958204
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3516049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6010091137
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D014605 Uveitis Cyclosporine 4.301336536
MESH:D014985 Xerophthalmia Cyclosporine 4.7617120751
No data
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB01752 - S-Adenosyl-L-Homocysteine
No data
No data
No data

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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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