AutismKB 2.0

Annotation Detail for PNPLA8


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Basic Information Top
Gene Symbol:PNPLA8 ( IPLA2(GAMMA),IPLA2-2,IPLA2G )
Gene Full Name: patatin-like phospholipase domain containing 8
Band: 7q31.1
Quick LinksEntrez ID:50640; OMIM: 612123; Uniprot ID:PLPL8_HUMAN; ENSEMBL ID: ENSG00000135241; HGNC ID: 28900
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C068314 6-(bromomethylene)tetrahydro-3-(1-naphthaleneyl)-2H-pyran-2-one 6-(bromomethylene)tetrahydro-3-(1-naphthaleneyl)-2H-pyran-2-one results in decreased activity of PNPLA8 proteindecreases activity 15153555
D000082 Acetaminophen Acetaminophen affects the expression of PNPLA8 mRNAaffects expression 17562736
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 decreased expression of PNPLA8 mRNAdecreases expression 20018196
D002084 Butylated Hydroxytoluene Butylated Hydroxytoluene inhibits the reaction [tert-Butylhydroperoxide results in decreased activity of PNPLA8 protein]decreases activity|decreases reaction 15153555
D020122 tert-Butylhydroperoxide Butylated Hydroxytoluene inhibits the reaction [tert-Butylhydroperoxide results in decreased activity of PNPLA8 protein]decreases activity|decreases reaction 15153555
D020122 tert-Butylhydroperoxide Deferoxamine inhibits the reaction [tert-Butylhydroperoxide results in decreased activity of PNPLA8 protein]decreases activity|decreases reaction 15153555
D020122 tert-Butylhydroperoxide Dithiothreitol inhibits the reaction [tert-Butylhydroperoxide results in decreased activity of PNPLA8 protein]decreases activity|decreases reaction 15153555
D020122 tert-Butylhydroperoxide N,N'-diphenyl-4-phenylenediamine inhibits the reaction [tert-Butylhydroperoxide results in decreased activity of PNPLA8 protein]decreases activity|decreases reaction 15153555
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide inhibits the reaction [PNPLA8 protein results in increased hydrolysis of choline plasmalogens]decreases reaction|increases hydrolysis 15153555
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide inhibits the reaction [PNPLA8 protein results in increased hydrolysis of Phosphatidylcholines]decreases reaction|increases hydrolysis 15153555
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased activity of PNPLA8 proteindecreases activity 15153555
C032459 choline plasmalogens PNPLA8 protein results in increased hydrolysis of choline plasmalogensincreases hydrolysis 15153555
C032459 choline plasmalogens tert-Butylhydroperoxide inhibits the reaction [PNPLA8 protein results in increased hydrolysis of choline plasmalogens]decreases reaction|increases hydrolysis 15153555
C007164 cumene hydroperoxide cumene hydroperoxide results in decreased activity of PNPLA8 proteindecreases activity 15153555
D016572 Cyclosporine Cyclosporine results in increased expression of PNPLA8 mRNAincreases expression 20106945
D003676 Deferoxamine Deferoxamine inhibits the reaction [tert-Butylhydroperoxide results in decreased activity of PNPLA8 protein]decreases activity|decreases reaction 15153555
D002945 Cisplatin Cisplatin results in decreased activity of PNPLA8 proteindecreases activity 15153555
D004229 Dithiothreitol Dithiothreitol inhibits the reaction [tert-Butylhydroperoxide results in decreased activity of PNPLA8 protein]decreases activity|decreases reaction 15153555
C004845 N,N'-diphenyl-4-phenylenediamine N,N'-diphenyl-4-phenylenediamine inhibits the reaction [tert-Butylhydroperoxide results in decreased activity of PNPLA8 protein]decreases activity|decreases reaction 15153555
D010713 Phosphatidylcholines PNPLA8 protein results in increased hydrolysis of Phosphatidylcholinesincreases hydrolysis 15153555
D010713 Phosphatidylcholines tert-Butylhydroperoxide inhibits the reaction [PNPLA8 protein results in increased hydrolysis of Phosphatidylcholines]decreases reaction|increases hydrolysis 15153555
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PNPLA8 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of PNPLA8 mRNAincreases expression 17426115
D017382 Reactive Oxygen Species Reactive Oxygen Species results in decreased activity of PNPLA8 proteindecreases activity 15153555
D014635 Valproic Acid Valproic Acid results in increased expression of PNPLA8 mRNAincreases expression 19101580
D024483 Vitamin K 3 Vitamin K 3 results in increased activity of PNPLA8 proteinincreases activity 15153555
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.488875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 3.9119490988
MESH:D058186 Acute Kidney Injury Cisplatin 3.9415814532 17670903 12690470
MESH:D055371 Acute Lung Injury pirinixic acid 3.1018653653
MESH:D000230 Adenocarcinoma Cisplatin 2.7517638652 11798837
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.4716434500
MESH:D000550 Amblyopia Valproic Acid 5.2317688650
MESH:D000799 Angioedema Acetaminophen 3.8410982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.5517497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8518445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8520603192 18558336 15238991 17157402 18316065 19460635 17507914 18940202 18775368 18177632 17688650 18396377 18985861 19232924 16609825
MESH:D001714 Bipolar Disorder Valproic Acid 3.0617594078 20046352
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.1319483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.398888407
MESH:D019046 Bone Marrow Neoplasms Cisplatin 4.8914601052
MESH:D001943 Breast Neoplasms Cisplatin 2.9219526202 18382427
MESH:D001943 Breast Neoplasms Deferoxamine 2.9215993339
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.053084413
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 3.0517982673
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.0312023789 16685392
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 2.816189445 17066447 18337622
MESH:D002386 Cataract Acetaminophen 2.5710977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.5120889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.5112371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7020734317
MESH:D002779 Cholestasis Cyclosporine 7.7019486331
MESH:D002779 Cholestasis pirinixic acid 7.7019176532
MESH:D015179 Colorectal Neoplasms Cisplatin 2.3315273666
MESH:D019465 Craniofacial Abnormalities Reactive Oxygen Species 3.1315736158
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.1317688650 8888407 16575769
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4118249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7719416960 14986274 18713872 16081117 12153990 2444490 10774834 11834606 16485898 15968718 14550746 19085960 11529661 16177239 11743745 17906064 14725611 19420014 12540782 12594235 19370779 18071297 17562736 16227642 16393943 12958197 10663392 19923254 11739529 19164858 12392966 12705907 11461765 15619225 16781746 11421492 19739265 10915739 16109766 17522070 11287661
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 3.7719641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1019426721
MESH:D004362 Drug Toxicity Cisplatin 3.8419839026 12231392 15033597 12649298
MESH:D004421 Dystonia Valproic Acid 4.031851702
MESH:D004487 Edema pirinixic acid 2.4612083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.143659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 3.923922381 16628512
MESH:D004827 Epilepsy Valproic Acid 2.9220417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.576426943 7562514 6254150
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.287750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.063659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6120426865
MESH:D004938 Esophageal Neoplasms Cisplatin 4.6116785472 16481741 15173087 15464296 17638652
MESH:D005234 Fatty Liver Cyclosporine 12.9619224547
MESH:D005234 Fatty Liver pirinixic acid 12.9619236843 20131406
MESH:D005234 Fatty Liver Valproic Acid 12.9614986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 4.8916575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.118888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.1312168785 12639820
MESH:D005756 Gastritis Acetaminophen 3.6816983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.218708960
MESH:D006258 Head and Neck Neoplasms Cisplatin 3.7015102660 15464296
MESH:D034381 Hearing Loss Cisplatin 4.2819898482
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.4015464296
MESH:D006333 Heart Failure pirinixic acid 2.5220558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.4115720958
MESH:D006529 Hepatomegaly pirinixic acid 2.9816221962 19772884 18467677 19176532
MESH:D006689 Hodgkin Disease Cisplatin 3.5816200630 16170182
MESH:D006849 Hydrocephalus Valproic Acid 4.8617688650
MESH:D006930 Hyperalgesia Acetaminophen 2.6816870215
MESH:D006943 Hyperglycemia pirinixic acid 3.1620558911
MESH:D006967 Hypersensitivity Butylated Hydroxytoluene 4.4917604070
MESH:D006973 Hypertension Cyclosporine 2.0910903974
MESH:D007333 Insulin Resistance pirinixic acid 2.6216306350
MESH:D002532 Intracranial Aneurysm Reactive Oxygen Species 4.9219381132
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.4415604871
MESH:D007673 Kidney Cortex Necrosis Cisplatin 5.1415464296
MESH:D007674 Kidney Diseases Acetaminophen 9.9915629191 12587719
MESH:D007674 Kidney Diseases Cisplatin 9.9918289764 12649298 15190930 12231392 19839026
MESH:D007674 Kidney Diseases Cyclosporine 9.998314463 18776723 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 2.7212371664
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 4.7911231351
MESH:D015470 Leukemia, Myeloid, Acute Deferoxamine 4.4020368581
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.4017596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental Phosphatidylcholines 3.0216169303
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.0215474484
MESH:D008107 Liver Diseases Acetaminophen 1.6216611625 12969438 16610002 19784758 11587558 19460945 12587719 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2217185352 16871587
MESH:D008113 Liver Neoplasms Butylated Hydroxytoluene 4.8218177683
MESH:D008113 Liver Neoplasms pirinixic acid 4.8220007298 15890375 16377806
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.2617228818
MESH:D008175 Lung Neoplasms Butylated Hydroxytoluene 3.0611696405 19359593 18597497 15390079 19925653 11246140 16337739
MESH:D008175 Lung Neoplasms Cisplatin 3.0617225452 11798837 6189445
MESH:D008325 Mammary Neoplasms, Experimental Butylated Hydroxytoluene 3.731500032
MESH:D008545 Melanoma Cisplatin 5.4817023156 18176117 15577323 18505091 12374674 11135225 16248763 12393984 16432458 18332650 16809738 12883367 17761969
MESH:D008545 Melanoma Reactive Oxygen Species 5.4817992120
MESH:D008545 Melanoma Vitamin K 3 5.4819082730
MESH:D018328 Melanoma, Amelanotic Cisplatin 4.7715990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5519513568
MESH:D008654 Mesothelioma Cisplatin 3.2417638057
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.7916801185
MESH:D008881 Migraine Disorders Valproic Acid 3.1718803445 18765137
MESH:D009135 Muscular Diseases pirinixic acid 3.4916239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.018888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.1417596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1319151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9316411023
MESH:D009369 Neoplasms Cisplatin 5.0716773208
MESH:D009369 Neoplasms pirinixic acid 5.0717405874
MESH:D009395 Nephritis, Interstitial Cisplatin 4.4915464296
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.4417954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.2719348381 18481113
MESH:D009436 Neural Tube Defects Valproic Acid 3.1116359493 8888407
MESH:D009447 Neuroblastoma Cisplatin 3.448761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8518514411
MESH:D017599 Neuroectodermal Tumors Cisplatin 4.698761367
MESH:D009765 Obesity pirinixic acid 1.8120558911
MESH:D010051 Ovarian Neoplasms Cisplatin 2.8715464296 6897625 17225452 19769630
MESH:D010146 Pain Acetaminophen 2.3716870215
MESH:D010190 Pancreatic Neoplasms Cisplatin 5.8919003803
MESH:D010190 Pancreatic Neoplasms Reactive Oxygen Species 5.8915580305
MESH:D010212 Papilloma cumene hydroperoxide 5.3212065085 17234724
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.2915464296
MESH:D010997 Pleural Neoplasms Cisplatin 5.3417638057
MESH:D011014 Pneumonia Butylated Hydroxytoluene 5.1511893704
MESH:D011230 Precancerous Conditions Cyclosporine 3.2012371664
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 3.8220603192
MESH:D019310 Pseudolymphoma Valproic Acid 4.5412752131 11422049
MESH:D011565 Psoriasis Cyclosporine 2.2216882103
MESH:D051437 Renal Insufficiency Cisplatin 4.3915464296
MESH:D015427 Reperfusion Injury pirinixic acid 2.3819058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.1619155313
MESH:D012512 Sarcoma, Ewing's Cisplatin 4.4114601052
MESH:D012559 Schizophrenia Valproic Acid 2.0719110320 15737665
MESH:D012640 Seizures Valproic Acid 2.7211738929 16876388 14763951 11044598 3137016 17978042 1511512 15475178
MESH:D012878 Skin Neoplasms cumene hydroperoxide 6.398532709 17234724 12065085
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 6.398532709
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 5.3415464296
MESH:D016135 Spinal Dysraphism Valproic Acid 3.7619490988
MESH:D013226 Status Epilepticus Valproic Acid 4.5412833885
MESH:D013274 Stomach Neoplasms Cisplatin 2.3317522103 15958060 18396642
MESH:D013736 Testicular Neoplasms Cisplatin 4.6117225452 15464296
MESH:D014178 Translocation, Genetic Valproic Acid 5.2317262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.513119515
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 2.9415464296 12973940 17225452
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.638888407
MESH:D014581 Urticaria Acetaminophen 2.9610982225
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 4.1916803524
MESH:D014605 Uveitis Cyclosporine 3.981336536
MESH:D014625 Vaginal Neoplasms Cisplatin 4.6015577323
MESH:D014839 Vomiting Cisplatin 4.7211897121
MESH:D014985 Xerophthalmia Cyclosporine 4.4417120751
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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