AutismKB 2.0

Annotation Detail for CYP39A1


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Basic Information Top
Gene Symbol:CYP39A1 ( - )
Gene Full Name: cytochrome P450, family 39, subfamily A, polypeptide 1
Band: 6p12.3
Quick LinksEntrez ID:51302; OMIM: 605994; Uniprot ID:CP39A_HUMAN; ENSEMBL ID: ENSG00000146233; HGNC ID: 17449
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00120Primary bile acid biosynthesis
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
Biological oxidations
No data
No data
Pathway IDPathway Name
500195Endogenous sterols
500829Synthesis of bile acids and bile salts via 24-hydroxycholesterol
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of CYP39A1 mRNAaffects expression 21346803
C044563 24-hydroxycholesterol CYP39A1 protein results in increased metabolism of 24-hydroxycholesterolincreases metabolic processing 10748047
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of CYP39A1 proteinaffects expression 20106945
C006632 arsenic trioxide arsenic trioxide results in decreased expression of CYP39A1 mRNAdecreases expression 15761015
C015001 arsenite arsenite results in decreased expression of CYP39A1 mRNAdecreases expression 18929588
D002220 Carbamazepine Carbamazepine results in increased expression of CYP39A1 mRNAincreases expression 17112801
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of CYP39A1 mRNAincreases expression 17484886
D016572 Cyclosporine Cyclosporine results in decreased expression of CYP39A1 mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of CYP39A1 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CYP39A1 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of CYP39A1 mRNAincreases expression 17950772
C006253 pirinixic acid PPARA protein inhibits the reaction [pirinixic acid results in increased expression of CYP39A1 mRNA]decreases reaction|increases expression 17950772
C031280 pyrazole pyrazole results in decreased expression of CYP39A1 mRNAdecreases expression 17945193
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of CYP39A1 mRNAincreases expression 20106945
D014028 Tobacco Smoke Pollution Tobacco Smoke Pollution results in increased expression of CYP39A1 mRNAincreases expression 18087596
D014415 Tunicamycin Tunicamycin results in decreased expression of CYP39A1 mRNAdecreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Carbamazepine 9.098986270
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.0911752688 15322242 14514962
MESH:D055371 Acute Lung Injury pirinixic acid 3.2018653653
MESH:D000230 Adenocarcinoma arsenic trioxide 2.3019825857 11798837
MESH:D002282 Adenocarcinoma, Bronchiolo-Alveolar Tobacco Smoke Pollution 5.6615814487
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.3016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.3016835633
MESH:D000544 Alzheimer Disease 24-hydroxycholesterol 4.2614523054
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0211748828
MESH:D001172 Arthritis, Rheumatoid Tobacco Smoke Pollution 3.2019898480
MESH:D001714 Bipolar Disorder Carbamazepine 4.1720046352 17594078
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 15.7716206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 15.7719483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 15.7712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8115746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.7020435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.4211589617
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.8816097048 16050911 10355542 16192424 3786805 15673190 18705752 16227642 16124888 15721981 16011737 15700767
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.6816705839
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 6.6812619106 12907637 21507988
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.6814691202 15073043 16217749 11135700 15553829
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.6818788625
MESH:D002289 Carcinoma, Non-Small-Cell Lung Tobacco Smoke Pollution 3.4511212258
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.0119014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.1912490120
MESH:D002294 Carcinoma, Squamous Cell Tobacco Smoke Pollution 3.2311212258
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4116120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.5812371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2316835633
MESH:D002779 Cholestasis Cyclosporine 7.9619486331
MESH:D002779 Cholestasis pirinixic acid 7.9619176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1316354765 15668235 15340226 12621046 8697196
MESH:D003110 Colonic Neoplasms arsenite 2.6015037631
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1317141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.2812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 3.9610525206
MESH:D019465 Craniofacial Abnormalities Carbamazepine 3.969014606
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.9620055451 10048152 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.1218551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.1815213294
MESH:D003715 Dengue 24-hydroxycholesterol 6.3219427377
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4618249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6817107852
OMIM:607208 DRAVET SYNDROME Carbamazepine 5.5511748493
MESH:D004342 Drug Hypersensitivity Carbamazepine 4.4516538176 20216337 15057820 16538175
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.3021346803 18551238
MESH:D056486 Drug-Induced Liver Injury Carbamazepine 12.3017465707
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 12.304309450 7179309 16227642 6884620 9327722 3732212 19085960 19336974 17522070 7120509 15968718 6623471 16177239 3786805 2869522 15998439 7440962 10915739 11566570 10092053 15027814 21278145
MESH:D056486 Drug-Induced Liver Injury pyrazole 12.3012499123
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.3020420201
MESH:D004362 Drug Toxicity Carbamazepine 8.6020216337
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.6011462148
MESH:D004487 Edema pirinixic acid 6.8112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.8111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0418230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental 24-hydroxycholesterol 10.6317410599
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Carbamazepine 10.6317654737
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.109294722 10568697
MESH:D004816 Epidermal Necrolysis, Toxic Carbamazepine 5.3516538176 16415921 18855540 19915237 20485159
MESH:D004831 Epilepsies, Myoclonic Carbamazepine 5.3117275665
MESH:D004828 Epilepsies, Partial Carbamazepine 5.1117116037 16628512 15008574
MESH:D004827 Epilepsy Carbamazepine 4.037988514 821787 18234410 19620853 17178248 19700373 19439326 9014606 20417680 17465707
MESH:D017029 Epilepsy, Complex Partial Carbamazepine 5.467750514
MESH:D004830 Epilepsy, Tonic-Clonic Carbamazepine 5.2415276670 3659116
MESH:D004916 Erythromelalgia Carbamazepine 5.8419549232
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3312903497
MESH:D005076 Exanthema Carbamazepine 5.5820485159
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0711564622
MESH:D005234 Fatty Liver arsenic trioxide 25.5915073043
MESH:D005234 Fatty Liver arsenite 25.5918296743
MESH:D005234 Fatty Liver Carbon Tetrachloride 25.5912631006 16045604 16239168 17595544 15959796 61145 19224547 12795759
MESH:D005234 Fatty Liver Cyclosporine 25.5919224547
MESH:D005234 Fatty Liver pirinixic acid 25.5919236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5611858732
MESH:D005355 Fibrosis arsenite 22.0818296743
MESH:D005355 Fibrosis Carbon Tetrachloride 22.0818705752
MESH:D005355 Fibrosis Cyclosporine 22.0812168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 22.0820067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.3616904648
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.348708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7310696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3711294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.5820558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.5415720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4211000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.6919110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 8.6118467677 16221962 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.6115340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.1815340226 16354765 8697196 18606429 16959395
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.6516899240
MESH:D006943 Hyperglycemia pirinixic acid 3.2620558911
MESH:D020138 Hyperhomocysteinemia Carbamazepine 4.8010459572
MESH:D006965 Hyperplasia Carbamazepine 5.3118773962
MESH:D006973 Hypertension Cyclosporine 5.0410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.0418670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.1915338365
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3812200463 12878042
MESH:D007249 Inflammation Tobacco Smoke Pollution 5.3818590791
MESH:D007333 Insulin Resistance pirinixic acid 2.6816306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.5815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.388314463 18776723 10903974
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.5016705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.5012371664
MESH:D007938 Leukemia arsenic trioxide 2.8715070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.8817077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.4216972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.4914633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.8419077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1516968895 20471514 16467208 17050201 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.2619035177 16966277 16330433 12018890 16112521 11161223 17107899 15748426 19642359 16331271 15213294 15336539 17712046 12679006 17649720 17217047 11468182 19225113 9834237 17869043 19075265 16823087 16891316 15622746 12712474
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.4516882451
MESH:D008103 Liver Cirrhosis arsenite 6.9718296743
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 6.9716221502 17174718 16239168 16943688 21278145 17334410 11903743 11408273 17157831
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.4318205269 18420326 10355542 18395095 18166357 17922224 11481614 16638106 15893842 15959796 12958196 17481882 17565644 17976157 18412020 14716833 17944888 16136751 17525996 17869086 20821823 12609069 18279442 17900296 18187930 18054572 16116963 15052691 16097048 12445418 16192424 16011737 17766677 18263696 18317297 15931870 16027843 12649538 18395914 18472094 12741479 14512876 15996030 18376398 17805973 15370692 15650968 12666154 12632512 17823541 15057751 15673190 18481824 18251166 18210741 14716496 13678700 17708605 18339082 12898905 16248980 12546737 18156304 18472332 18418968 18006644 17640975 17761835 12445421 18277467 15362042 15818738 17557913 14620537 14724832 12389079 16033810 15730626 15876570 15925388 17631135 17698563 17721639 16015684 15123356 12632514 15338365 17714472 12667390 14748882 18429990 12586293 18705752
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4312878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1015830285 16964402 16246199 15720792 17285989
MESH:D017093 Liver Failure Carbon Tetrachloride 4.2715123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.7714706259 16899240
MESH:D008113 Liver Neoplasms Aflatoxin B1 14.5518177683 2125692 15890375 9163691
MESH:D008113 Liver Neoplasms arsenic trioxide 14.5514682389
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 14.5519294768
MESH:D008113 Liver Neoplasms pirinixic acid 14.5516377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.5516984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 14.538603461
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 14.5320377131
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 14.5312014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.5312151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4115213294
MESH:D008175 Lung Neoplasms Aflatoxin B1 6.7114755239
MESH:D008175 Lung Neoplasms arsenic trioxide 6.7119825857 11798837
MESH:D008175 Lung Neoplasms arsenite 6.7116809336
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 6.7111884234 19555203
MESH:D008175 Lung Neoplasms Tobacco Smoke Pollution 6.7116288123 3440675 11091918 12111688
MESH:D008180 Lupus Erythematosus, Systemic Carbamazepine 3.5916628512
MESH:D008607 Mental Retardation Carbamazepine 3.759014606
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 4.9216801185
MESH:D009062 Mouth Neoplasms Tobacco Smoke Pollution 4.4115006635
MESH:D009101 Multiple Myeloma arsenic trioxide 3.1619549372 14977855 11468182 15949261 19417148
MESH:D009135 Muscular Diseases pirinixic acid 3.6116239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.8118349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.1816882451 16105982
MESH:D009203 Myocardial Infarction pirinixic acid 2.1719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0116411023
MESH:D009224 Myotonia Congenita Carbamazepine 5.5820399394
MESH:D009336 Necrosis 2,4-dinitrotoluene 3.9718551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.0516624393
MESH:D009369 Neoplasms pirinixic acid 1.9817405874
MESH:D009389 Neovascularization, Pathologic arsenite 4.5315738583
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.5817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.3618481113 19348381
MESH:D009421 Nervous System Malformations Carbamazepine 10.2516990009
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.2514600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.1710525206
MESH:D009765 Obesity pirinixic acid 1.8320558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.5016049721 12819281
MESH:D010018 Osteomalacia Carbamazepine 5.5817016548
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4316624393 19769630 12452020
MESH:D010146 Pain Carbamazepine 4.1015215642
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5515580305
MESH:D010235 Paraganglioma arsenic trioxide 4.2519927285
MESH:D010267 Parapsoriasis Carbamazepine 5.8016538176
OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER Carbamazepine 6.0417145499 17679678
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.3812520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6518163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.2912371664
MESH:D011248 Pregnancy Complications Carbamazepine 5.269014606
MESH:D011297 Prenatal Exposure Delayed Effects Carbamazepine 10.259014606
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2511896295 11118676 11222880 11399792
MESH:D011471 Prostatic Neoplasms arsenic trioxide 3.2619131511
MESH:D019310 Pseudolymphoma Carbamazepine 5.739591791 12752131
MESH:D011565 Psoriasis Cyclosporine 2.2516882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4219058328
MESH:D012135 Respiratory Sounds Tobacco Smoke Pollution 4.7318410779
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9318990726
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.0516646077
MESH:D012640 Seizures 2,4-dinitrotoluene 6.5118551238
MESH:D012640 Seizures Carbamazepine 6.519046859 15946322 16876388 19414003 9844417 16938433 16180713
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0216192470
MESH:D012878 Skin Neoplasms Tobacco Smoke Pollution 6.0218590791
MESH:D012893 Sleep Disorders Carbamazepine 5.2419414003
MESH:D019082 Smith-Lemli-Opitz Syndrome 24-hydroxycholesterol 6.6611254748
MESH:D013262 Stevens-Johnson Syndrome Carbamazepine 5.3116415921 16538176 15057820 19915237 20485159 18855540 19694795
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D013733 Testicular Diseases pyrazole 4.936499806
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0412697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.1519014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.0815213294
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.6216049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 8.6211780464 20435036 12973940 12845720
MESH:D001749 Urinary Bladder Neoplasms Tobacco Smoke Pollution 8.6212846360
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.4310091137
MESH:D014605 Uveitis Cyclosporine 4.121336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7312125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.3815886252
MESH:D014985 Xerophthalmia Cyclosporine 4.5817120751
Pathway ID Pathway Name
REACT:13433 Biological oxidations
REACT:22258 Metabolism of lipids and lipoproteins
KEGG:00120 Primary bile acid biosynthesis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38452
    • No data
    No data
    Releated drug ID Related drug Name
    PA449512estrone
    PA451123progesterone
    PA448785carbamazepine
    Drug Bank Top

    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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