AutismKB 2.0

Annotation Detail for OXCT1


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Basic Information Top
Gene Symbol:OXCT1 ( OXCT,SCOT )
Gene Full Name: 3-oxoacid CoA transferase 1
Band: 5p13.1
Quick LinksEntrez ID:5019; OMIM: 601424; Uniprot ID:SCOT1_HUMAN; ENSEMBL ID: ENSG00000083720; HGNC ID: 8527
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY66-368ketolysis
Pathway IDPathway Name
hsa00280Valine, leucine and isoleucine degradation
hsa00650Butanoate metabolism
hsa00072Synthesis and degradation of ketone bodies
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
No data
No data
No data
Related Diseases/Disorders Top
No data
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Desease Name
Succinyl CoA:3-oxoacid CoA transferase deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000638 Amiodarone Amiodarone results in increased expression of OXCT1 mRNAincreases expression 17991464
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of OXCT1 mRNAdecreases expression 20064835
C032036 bromobenzene bromobenzene results in decreased expression of OXCT1 mRNAdecreases expression 15056800
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of OXCT1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of OXCT1 mRNAaffects cotreatment|increases expression 17942748
D005472 Fluorouracil OXCT1 protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
D005472 Fluorouracil TP53 protein affects the reaction [Fluorouracil results in decreased expression of OXCT1 mRNA]affects reaction|decreases expression 15016801
D008942 Mitoxantrone OXCT1 protein affects the susceptibility to Mitoxantroneaffects response to substance 16217747
C029938 nickel sulfate nickel sulfate results in decreased expression of OXCT1 mRNAdecreases expression 16780908
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of OXCT1 mRNAaffects binding|decreases expression|increases activity 19710929
C006253 pirinixic acid pirinixic acid results in decreased expression of OXCT1 mRNAdecreases expression 18445702
17426115
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of OXCT1 mRNAaffects cotreatment|increases expression 17942748
D013827 Thiabendazole Thiabendazole affects the expression of OXCT1 mRNAaffects expression 18539377
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0815322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury nickel sulfate 9.7619131640 16100012 11954676 12718980
MESH:D055371 Acute Lung Injury pirinixic acid 9.7618653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.2720127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.2714692618
MESH:D000230 Adenocarcinoma Fluorouracil 7.2717638652
MESH:D000236 Adenoma Benzo(a)pyrene 2.746695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.7116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000740 Anemia Fluorouracil 9.2315504547 17963324 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.2311748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001145 Arrhythmias, Cardiac Amiodarone 3.9620041841 18218290 18057881
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001281 Atrial Fibrillation Amiodarone 4.0319698954 18651412
MESH:D001778 Blood Coagulation Disorders Amiodarone 16.3419483382
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.3419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.3412125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8317474063 20146248
MESH:D001943 Breast Neoplasms Fluorouracil 1.8318357371 15136595 16110121 16595493 18608205 19217205 16557594
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8320435547
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9316051944
MESH:D002277 Carcinoma Fluorouracil 8.6517121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.6516835633
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1017088986 16332177 17971768 16799960 18930000 17045692
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0918695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.7920419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.7916757204 16280240 17066447 18986760
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4516120746 18670907 18850075
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 2.9415710769 19225199
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.3218974383
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1715861022 16919318 17110522 16105132 17333356 17681005 11677210
MESH:D002779 Cholestasis pirinixic acid 8.1719176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 15668235 16354765 12621046 15340226
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2618772588 17725105 17016597 16340194 17287894 16510598 17172411 15001691 17169374 17018589
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0016391804 17255274 18448328 20501625 15289873 16524972 18288408 17454858 18949393 17695437 16282729 17094418 14970324 17016601 18802399 18509181 17594712 17401013 15148649 16331619 16303861 18383874
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D007644 Darier Disease Fluorouracil 5.0316733453
MESH:D017449 Dermatitis, Allergic Contact nickel sulfate 3.8811298694 16823706 16780908
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.6515265979 18218290
MESH:D056486 Drug-Induced Liver Injury bromobenzene 6.6512628495 10092053
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6520420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3812538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.6216530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.6216481741 16785472 16337965 17638652 15173087
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Amiodarone 14.1214986274
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.1215345470
MESH:D005234 Fatty Liver pirinixic acid 14.1219236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005910 Glioma Fluorouracil 2.9316145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5018337622 15162350 15102660
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7210048152 11294989
MESH:D006331 Heart Diseases Mitoxantrone 4.2716019553
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Amiodarone 15.7215265979
MESH:D006529 Hepatomegaly pirinixic acid 15.7219772884 16221962 18467677 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 15.7215340226 16120746 12621046
MESH:D006734 Horse Diseases Thiabendazole 6.5416402567
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 16959395 15340226 16354765 18606429
MESH:D006937 Hypercholesterolemia Amiodarone 4.049751232 8137927
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007037 Hypothyroidism Amiodarone 4.7317991464 18020914
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9312200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007680 Kidney Neoplasms Fluorouracil 3.4516985049
MESH:D015451 Leukemia, Lymphocytic, Chronic, B-Cell Mitoxantrone 3.8518172266
MESH:D008064 Lipidoses Amiodarone 3.6315342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1815474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1812878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.1620195826 21137059
MESH:D008113 Liver Neoplasms Fluorouracil 11.1617045692 16603448 15113037 18383874
MESH:D008113 Liver Neoplasms pirinixic acid 11.1620007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.1616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2012151625
MESH:D008133 Long QT Syndrome Amiodarone 3.7117391786 11989578 15350150
MESH:D008171 Lung Diseases Amiodarone 3.4812587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 4.7418516814
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.4718816296 17053015 18569708 6695378 20464547 20064080 20135361 18520028 20869020
MESH:D008175 Lung Neoplasms Fluorouracil 3.4715246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.4711884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0315086387
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 8.9716381670
MESH:D009062 Mouth Neoplasms Fluorouracil 8.9716757204 18986760
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009181 Mycoses Amiodarone 5.1717974566 12754197
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009349 Nematode Infections Thiabendazole 6.6816402567
MESH:D009369 Neoplasms Benzo(a)pyrene 12.5611141357
MESH:D009369 Neoplasms Fluorouracil 12.5616928823 18600527 18239605
MESH:D009369 Neoplasms Mitoxantrone 12.5616640825
MESH:D009369 Neoplasms pirinixic acid 12.5617405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5516436463
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7216929163 19003803 15113037 16500647
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311118676 11896295 11222880 11399792
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1917292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.1919082440 18626508
MESH:D011537 Pruritus Ethinyl Estradiol 3.5516919318 15861022
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9111597910 12490602 12832656
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1618286688 16160472 18722050 15538739
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.3218724381
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7210029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7216192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.462093021 20155912
MESH:D013274 Stomach Neoplasms Fluorouracil 2.4617498489 17172411 16424979 18396642 15786421 19015929 17522103 18567086 19084572 16951190
MESH:D013276 Stomach Ulcer Amiodarone 3.4818087811
MESH:C537527 Succinyl-CoA:3-oxoacid CoA transferase deficiency marker/mechanism
MESH:D013610 Tachycardia Amiodarone 4.4911238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.3919225199
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Amiodarone 12.9519731979
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 12.9512697716
MESH:D013971 Thyrotoxicosis Amiodarone 5.0818020914 19584973
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1516280240
MESH:D016171 Torsades de Pointes Amiodarone 4.4311989578 17467628
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2317053015
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0416803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7115869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:00650 Butanoate metabolism
REACT:22258 Metabolism of lipids and lipoproteins
KEGG:00072 Synthesis and degradation of ketone bodies
KEGG:00280 Valine, leucine and isoleucine degradation
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB00139 - Ubicoenzyme Anti-Ulcer Agents;Dietary supplement;Micronutrient;Radiation-Protective Agents
DB02731 - Thimerosal Antiseptic Agents;Preservatives, Pharmaceutical
No data
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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