AutismKB 2.0

Annotation Detail for UBE3A


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Basic Information Top
Gene Symbol:UBE3A ( ANCR,AS,E6-AP,EPVE6AP,FLJ26981,HPVE6A )
Gene Full Name: ubiquitin protein ligase E3A
Band: 15q11.2
Quick LinksEntrez ID:7337; OMIM: 601623; Uniprot ID:UBE3A_HUMAN; ENSEMBL ID: ENSG00000114062; HGNC ID: 12496
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04120Ubiquitin mediated proteolysis
No data
Pathway IDPathway Name
200038Coregulation of Androgen receptor activity
200072Regulation of Telomerase
Pathway IDPathway Name
P00060Ubiquitin proteasome pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1789Movement disorder
1944Breast cancer
2029Tuberculosis
2124Autistic disorder
No data
No data
Desease Name
Angelman syndrome
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of UBE3A mRNAaffects expression 17562736
C006632 arsenic trioxide arsenic trioxide results in increased expression of UBE3A mRNAincreases expression 20458559
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 UBE3A mRNAdecreases expression 19150397
D017313 Fenretinide Fenretinide results in increased expression of UBE3A mRNAincreases expression 16570282
D009151 Mustard Gas Mustard Gas results in increased expression of UBE3A mRNAincreases expression 15674844
C006253 pirinixic acid pirinixic acid results in decreased expression of UBE3A mRNAdecreases expression 18445702
D014028 Tobacco Smoke Pollution Tobacco Smoke Pollution results in increased expression of UBE3A mRNAincreases expression 18087596
D014212 Tretinoin Tretinoin results in decreased expression of UBE3A mRNAdecreases expression 16140955
C025643 vinclozolin vinclozolin affects the expression of UBE3A mRNAaffects expression 19015723
D014810 Vitamin E Vitamin E results in decreased expression of UBE3A mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma arsenic trioxide 4.8919825857 11798837
MESH:D000230 Adenocarcinoma Fenretinide 4.8910697514
MESH:D002282 Adenocarcinoma, Bronchiolo-Alveolar Tobacco Smoke Pollution 5.7915814487
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7216434500
MESH:D000505 Alopecia Tretinoin 3.7515955085
MESH:D017204 Angelman Syndrome marker/mechanism 15878204
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7819015723
MESH:D001169 Arthritis, Experimental Tretinoin 3.1816412693
MESH:D001172 Arthritis, Rheumatoid Tobacco Smoke Pollution 5.0219898480
MESH:D001172 Arthritis, Rheumatoid Tretinoin 5.0216292516
MESH:D001249 Asthma Mustard Gas 5.1310378619
MESH:D001249 Asthma Tretinoin 5.1316456186
MESH:D001321 Autistic Disorder marker/mechanism 20609483 19404257 11543639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001471 Barrett Esophagus Tretinoin 4.6016935849
MESH:D001768 Blister Mustard Gas 5.4019167455
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 16.3916206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.3919483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 16.3916206674 16197459
MESH:D001932 Brain Neoplasms Fenretinide 4.5116187019
MESH:D001943 Breast Neoplasms Fenretinide 2.5016601279
MESH:D001943 Breast Neoplasms Tretinoin 2.5016443354 16166294 16873071
MESH:D001989 Bronchiolitis Obliterans Mustard Gas 5.4015286001
MESH:D029481 Bronchitis, Chronic Mustard Gas 5.2417687719 10378619
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.8316813970
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5111589617
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1516050911
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.4216168501
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.813084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.8111135700 15073043 15553829 16217749 14691202
MESH:D006528 Carcinoma, Hepatocellular Fenretinide 6.8116270382 17159502
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.811917145
MESH:D002289 Carcinoma, Non-Small-Cell Lung Tobacco Smoke Pollution 3.4711212258
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2812490120
MESH:D002294 Carcinoma, Squamous Cell Fenretinide 8.0416274795
MESH:D002294 Carcinoma, Squamous Cell Tobacco Smoke Pollution 8.0411212258
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 8.0416096774 16051514
MESH:D002386 Cataract Acetaminophen 7.5410977129
MESH:D002386 Cataract Tretinoin 7.5417460283
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8420889678
MESH:D018290 Cervical Intraepithelial Neoplasia Fenretinide 13.7816154183
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 13.7816129372
MESH:D002779 Cholestasis pirinixic acid 2.9519176532
MESH:D002822 Choriocarcinoma Tretinoin 5.4216461808
MESH:D002972 Cleft Palate Tretinoin 2.739407595
MESH:D003092 Colitis Tretinoin 3.9217035595
MESH:D015179 Colorectal Neoplasms arsenic trioxide 2.8320501625
MESH:D015179 Colorectal Neoplasms Fenretinide 2.8317273769
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3812609071
MESH:D019465 Craniofacial Abnormalities marker/mechanism 15878204
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 3.9410525206
MESH:D019465 Craniofacial Abnormalities Tretinoin 3.949125849 9224671 8800419 9142499 14991402 9211117 10589399 16925845 17551590 9664655
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.9419769572
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2815213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6317562736 14725611 19923254 18071297 14986274 10663392 2444490 16781746 14550746 11287661 19370779 10915739 12958197 17906064 19085960 11461765 11529661 19739265 10774834 12153990 16081117 18713872 16109766 19416960 11834606 16227642 12392966 15968718 11421492 17522070 12594235 15619225 16177239 19164858 16393943 12540782 11743745 11739529 19420014 16485898 12705907
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:C538011 Eales disease Vitamin E 4.979068938
MESH:D004487 Edema Mustard Gas 7.4511428647 9260866 11428631 11402378
MESH:D004487 Edema pirinixic acid 7.4512083418
MESH:D004489 Edema, Cardiac Tretinoin 4.7318230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2116569247
MESH:D004827 Epilepsy marker/mechanism 15878204
MESH:D004890 Erythema Mustard Gas 5.409357497
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5920426865
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.5912903497
MESH:D005124 Eye Abnormalities Tretinoin 3.7016938888 9664655
MESH:D005234 Fatty Liver arsenic trioxide 8.3015073043
MESH:D005234 Fatty Liver pirinixic acid 8.3020131406 19236843
MESH:D005355 Fibrosis Tretinoin 3.7317994277
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4616904648
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D005909 Glioblastoma Fenretinide 7.8016187019
MESH:D005909 Glioblastoma Tretinoin 7.8017312396
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2916096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.4216084493
MESH:D006330 Heart Defects, Congenital Tretinoin 7.0514991402 9664655
MESH:D006330 Heart Defects, Congenital Vitamin E 7.0516080930
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.2119176532 18467677 16221962 19772884
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7516490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.2414716179
MESH:D006930 Hyperalgesia Acetaminophen 8.0916870215
MESH:D006930 Hyperalgesia Tretinoin 8.0916870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7816778211
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D007248 Infertility, Male vinclozolin 3.1516467254
MESH:D007249 Inflammation Mustard Gas 5.8717524151 11428631 9357497 11428647 11428620 16001271 11402378 8975870 9260866
MESH:D007249 Inflammation Tobacco Smoke Pollution 5.8718590791
MESH:D007251 Influenza, Human Vitamin E 4.4816624496
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007410 Intestinal Diseases Tretinoin 3.9817994277
MESH:D007569 Jaw Abnormalities Tretinoin 4.0715992940 17551590
MESH:D007674 Kidney Diseases Acetaminophen 6.2715629191 12587719
MESH:D007674 Kidney Diseases Vitamin E 6.2712488133
MESH:D007938 Leukemia arsenic trioxide 6.6015070760
MESH:D007938 Leukemia Tretinoin 6.6017143497
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9717077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 10.0519077051
MESH:D007951 Leukemia, Myeloid Tretinoin 10.0516932348 19285840 16482212
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 3.9717050201 19850784 16467208 16968895 20471514
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 3.9717596541 19850784 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 7.9916891316 11468182 16823087 19642359 17649720 15622746 15213294 12712474 19075265 17869043 16331271 12018890 19225113 15748426 17107899 16330433 15336539 17712046 9834237 16966277 12679006 11161223 16112521 17217047 19035177
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 7.9916788101 17649720 17301526 17368321 19075265 17339181 17361223 19642359 17294898 17506722 16823087 12679006 16891316 19035177 16935935 17217047 16140955 19029980 17107899 16331271 15748426 9834237 19225113 17712046 16766008
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5516882451
MESH:D007972 Leukoplakia, Oral Fenretinide 6.3116707609
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.439224671
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5815474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.5816248980 18397230
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.5816169303
MESH:D008107 Liver Diseases Acetaminophen 1.6619014921 12587719 19784758 11587558 16610002 16611625 12969438 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4017185352 16871587
MESH:D008113 Liver Neoplasms arsenic trioxide 4.6714682389
MESH:D008113 Liver Neoplasms pirinixic acid 4.6715890375 16377806 20007298
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 2.8320377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4815213294
MESH:D008171 Lung Diseases Mustard Gas 7.9218702808 18161513
MESH:D008171 Lung Diseases Vitamin E 7.9216863852
MESH:D008175 Lung Neoplasms arsenic trioxide 5.0819825857 11798837
MESH:D008175 Lung Neoplasms Mustard Gas 5.088781369 3148597
MESH:D008175 Lung Neoplasms Tobacco Smoke Pollution 5.083440675 12111688 11091918 16288123
MESH:D008175 Lung Neoplasms Vitamin E 5.0811062179
MESH:D008325 Mammary Neoplasms, Experimental Fenretinide 3.6710697514
MESH:D008527 Medulloblastoma Tretinoin 2.8417453147
MESH:D008545 Melanoma Fenretinide 3.7216270382
MESH:D008545 Melanoma Tretinoin 3.7216752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008591 Meningomyelocele Tretinoin 4.6416940565
MESH:D009062 Mouth Neoplasms Fenretinide 9.6516274795
MESH:D009062 Mouth Neoplasms Tobacco Smoke Pollution 9.6515006635
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2219549372 14977855 11468182 15949261 19417148
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.6916105982 16882451
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.6917596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1616624393
MESH:D009369 Neoplasms Fenretinide 8.8017353921 15958647
MESH:D009369 Neoplasms pirinixic acid 8.8017405874
MESH:D009369 Neoplasms Tretinoin 8.8016594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 3.989125849
MESH:D009436 Neural Tube Defects arsenic trioxide 7.6610525206
MESH:D009436 Neural Tube Defects Tretinoin 7.669142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009472 Neuronal Ceroid-Lipofuscinoses Fenretinide 5.9216303764
MESH:D009503 Neutropenia Mustard Gas 4.1516761898 7688884
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.2919769630 16624393 12452020
MESH:D010051 Ovarian Neoplasms Fenretinide 8.2916133793
MESH:D010051 Ovarian Neoplasms Tretinoin 8.2916936753
MESH:D010146 Pain Acetaminophen 7.0716870215
MESH:D010146 Pain Tretinoin 7.0716870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 9.0615580305
MESH:D010190 Pancreatic Neoplasms Fenretinide 9.0615580305
MESH:D010190 Pancreatic Neoplasms Tretinoin 9.0615976015
MESH:D010235 Paraganglioma arsenic trioxide 4.3519927285
MESH:D011041 Poisoning Mustard Gas 3.9815727166
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.1318220299 18042343 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.6719131511
MESH:D011471 Prostatic Neoplasms Fenretinide 2.6717024972
MESH:D011471 Prostatic Neoplasms Vitamin E 2.6715084515
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D011507 Proteinuria Tretinoin 3.7916636307
MESH:D011537 Pruritus Mustard Gas 4.3318058305
MESH:D011625 Pterygium Tretinoin 5.0316723453
MESH:D011658 Pulmonary Fibrosis Mustard Gas 2.9810334151 17266442 17620002 17894541 17720292
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012135 Respiratory Sounds Tobacco Smoke Pollution 4.8418410779
MESH:D012162 Retinal Degeneration Fenretinide 4.5316303925
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.2816116481 16283617
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1616646077
MESH:D012871 Skin Diseases Mustard Gas 5.1612880345 15451306 16961503
MESH:D012871 Skin Diseases Vitamin E 5.1618709164
MESH:D012878 Skin Neoplasms Fenretinide 10.1716467112
MESH:D012878 Skin Neoplasms Tobacco Smoke Pollution 10.1718590791
MESH:D012878 Skin Neoplasms Tretinoin 10.1716467112
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4917007042
MESH:D013274 Stomach Neoplasms Tretinoin 2.4917261132
MESH:D020521 Stroke Vitamin E 3.6616517955
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.6519014326
MESH:D013964 Thyroid Neoplasms Tretinoin 7.6517045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 3.9516051514
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2015213294
MESH:D014376 Tuberculosis Tretinoin 3.3316040207
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 8.9412845720 20435036 11780464 12973940
MESH:D001749 Urinary Bladder Neoplasms Fenretinide 8.9416720286
MESH:D001749 Urinary Bladder Neoplasms Tobacco Smoke Pollution 8.9412846360
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D002583 Uterine Cervical Neoplasms Fenretinide 10.2516154183
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 10.2516129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.8816752155
MESH:D014820 Vitiligo Tretinoin 4.2516761959
MESH:D009396 Wilms Tumor Tretinoin 4.1216287080
Pathway ID Pathway Name
KEGG:04120 Ubiquitin mediated proteolysis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA37144
    • No data
    Releated disease ID Related disease Name
    PA153906318Autism Spectrum Disorder
    PA447198Autistic Disorder
    PA446460Angelman Syndrome
    Releated drug ID Related drug Name
    PA164743471adenosine triphosphate
    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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