AutismKB 2.0

Annotation Detail for EWSR1


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Basic Information Top
Gene Symbol:EWSR1 ( EWS,bK984G1.4 )
Gene Full Name: Ewing sarcoma breakpoint region 1
Band: 22q12.2
Quick LinksEntrez ID:2130; OMIM: 133450; Uniprot ID:EWS_HUMAN; ENSEMBL ID: ENSG00000182944; HGNC ID: 3508
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
No data
Pathway IDPathway Name
200174BARD1 signaling events
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00049Myxoid liposarcoma
Cancers
H00035Ewing's sarcoma
Cancers of soft tissues and bone
H00053Extraskeletal myxoid chondrosarcoma
H00052Clear cell sarcoma of soft tissue
Desease IDDesease Name
1934Cancer
No data
No data
Desease Name
Ewing sarcoma
Neuroepithelioma
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of EWSR1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of EWSR1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of EWSR1 mRNAaffects expression 17562736
D002392 Catechin Catechin results in increased expression of EWSR1 mRNAincreases expression 15465739
D002995 Clofibric Acid Clofibric Acid affects the expression of EWSR1 mRNAaffects expression 17602206
D004040 Dietary Carbohydrates Dietary Carbohydrates results in increased expression of EWSR1 mRNAincreases expression 17490981
D004958 Estradiol Estradiol results in decreased expression of EWSR1 mRNAdecreases expression 20068009
D000431 Ethanol Ethanol results in increased expression of EWSR1 mRNAincreases expression 15513904
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of EWSR1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EWSR1 mRNAaffects cotreatment|increases expression 17942748
D015741 Metribolone Metribolone promotes the reaction [NDRG1 protein binds to EWSR1 protein]affects binding|increases reaction 17220478
C068564 phosphatidylbutanol EWSR1 protein affects the reaction [PLD2 protein promotes the reaction [PDGFB protein results in increased abundance of phosphatidylbutanol]]affects reaction|increases abundance|increases reaction 15919668
C006253 pirinixic acid pirinixic acid results in increased expression of EWSR1 mRNAincreases expression 18301758
C087123 romidepsin romidepsin results in decreased activity of and results in decreased expression of EWSR1 protein mutant formdecreases activity|decreases expression 15849726
C087123 romidepsin romidepsin results in decreased expression of EWSR1 mRNA mutant formdecreases expression 15849726
D012643 Selenium [Selenium co-treated with Vitamin E] results in increased expression of EWSR1 mRNAaffects cotreatment|increases expression 19244175
D012643 Selenium Selenium results in increased expression of EWSR1 mRNAincreases expression 19244175
D020123 Sirolimus Sirolimus results in decreased expression of EWSR1 protein mutant formdecreases expression 15782132
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of EWSR1 mRNAaffects cotreatment|increases expression 17942748
C025643 vinclozolin vinclozolin results in decreased expression of EWSR1 mRNAdecreases expression 18042343
D014810 Vitamin E [Selenium co-treated with Vitamin E] results in increased expression of EWSR1 mRNAaffects cotreatment|increases expression 19244175
D014810 Vitamin E Vitamin E results in increased expression of EWSR1 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 8.3517676605 18926900
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.3511752688 15322242 14514962
MESH:D000138 Acidosis Ethanol 4.4611192467
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9117505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.0818653653
MESH:D000230 Adenocarcinoma Estradiol 4.1811473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.1814692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 9.7816434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 9.7816835633
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.2915451039 15451040
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9111748828
MESH:D000799 Angioedema Acetaminophen 3.8110982225
MESH:D000853 Anophthalmos Ethanol 4.7815513904
MESH:D001008 Anxiety Disorders Ethanol 8.8911141031
MESH:D001008 Anxiety Disorders vinclozolin 8.8919015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6415885639
MESH:D001321 Autistic Disorder Acetaminophen 2.3018445737
MESH:D001321 Autistic Disorder Sirolimus 2.3021115397
MESH:D001778 Blood Coagulation Disorders pirinixic acid 8.6319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.6312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.7615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7315746008
MESH:D001943 Breast Neoplasms Estradiol 1.9517261762 14630087 19861407 12948864 17289903 16675129 18497071 17018787
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D002056 Burns Ethanol 4.6116374292
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4316111702
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 3.8916050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.7616835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 11.3216705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 11.3216705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 11.323084413
MESH:D006528 Carcinoma, Hepatocellular Estradiol 11.3216924424
MESH:D006528 Carcinoma, Hepatocellular Ethanol 11.3218788625 15763234 15289165
MESH:D006528 Carcinoma, Hepatocellular Sirolimus 11.3219335982
MESH:D002294 Carcinoma, Squamous Cell Sirolimus 3.5519435901
MESH:D002295 Carcinoma, Transitional Cell romidepsin 5.8017230511
MESH:D006332 Cardiomegaly Ethanol 6.7619332462
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 6.7618670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.5510977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.566135515
MESH:D002471 Cell Transformation, Neoplastic Estradiol 6.5618566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D002779 Cholestasis Ethinyl Estradiol 7.6317110522 16105132 15861022 17681005 17333356 16919318 11677210
MESH:D002779 Cholestasis pirinixic acid 7.6319176532
MESH:D002971 Cleft Lip Ethanol 3.5615513904
MESH:D002972 Cleft Palate Ethanol 5.8915513904
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 5.8912621046 15340226 16354765 15668235 8697196
MESH:D003092 Colitis Selenium 3.7417936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0217141729 14669216
MESH:D019465 Craniofacial Abnormalities Ethanol 3.8015451039 15513904 10194807 11873399 19302082 15451040 11198716
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.8010048152 20055451 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.8019769572
MESH:D003456 Cryptorchidism vinclozolin 4.3014966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 10.7618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 10.7618551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4018249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6617107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.3719279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 15.1021346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 15.1018551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 15.1016781746 16177239 14725611 11287661 11739529 11461765 11743745 19085960 11529661 18071297 12705907 12594235 12392966 10915739 12540782 12958197 19923254 19739265 12153990 11421492 10774834 11834606 10663392 16227642 15619225 19416960 14550746 19164858 16485898 17522070 2444490 16081117 17562736 15968718 19370779 19420014 16393943 16109766 18713872 17906064 14986274
MESH:D056486 Drug-Induced Liver Injury Ethanol 15.1011566570
MESH:D056486 Drug-Induced Liver Injury Selenium 15.1015131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 15.1020420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.0719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7311462148
MESH:C538011 Eales disease Vitamin E 4.689068938
MESH:D004487 Edema pirinixic acid 6.4012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 6.4011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.8718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.1512538720
MESH:D016889 Endometrial Neoplasms Estradiol 2.9519148513 11473722 18566989
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 2.989294722 10568697
MESH:D004938 Esophageal Neoplasms Ethanol 2.7416704527
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 2.9811564622
MESH:D005234 Fatty Liver Ethanol 12.8816409862 19236843 18620774
MESH:D005234 Fatty Liver Ethinyl Estradiol 12.8815345470
MESH:D005234 Fatty Liver pirinixic acid 12.8820131406 19236843
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.6417920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.2615513904 16946407 15451040 10194807
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.9120067830
MESH:D005756 Gastritis Acetaminophen 11.0316983495
MESH:D005756 Gastritis Ethanol 11.0315046732
MESH:D030342 Genetic Diseases, Inborn vinclozolin 4.9016973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.2716417039
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.5710696789
MESH:D006258 Head and Neck Neoplasms Sirolimus 4.4319435901
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.4911294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 6.4916080930
MESH:D006333 Heart Failure pirinixic acid 6.8620558911
MESH:D006333 Heart Failure Selenium 6.8617162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.2911000095
MESH:D006529 Hepatomegaly pirinixic acid 8.1319772884 18467677 19176532 16221962
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.1312621046 15340226 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.6916490937 16863852
MESH:D006558 Herpes Genitalis Estradiol 5.0015709030
MESH:D019584 Hot Flashes Estradiol 9.9517088409
MESH:D019584 Hot Flashes Vitamin E 9.9514716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.0216959395 18606429 15340226 16354765 8697196
MESH:D006930 Hyperalgesia Acetaminophen 7.6916870215
MESH:D006930 Hyperalgesia Ethanol 7.6918783367
MESH:D006943 Hyperglycemia pirinixic acid 3.1420558911
MESH:D020138 Hyperhomocysteinemia Catechin 4.9317292331
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.8918670907 18850075
MESH:D006984 Hypertrophy Sirolimus 5.1919211884
MESH:D007021 Hypospadias Ethinyl Estradiol 3.7716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.5617937319
MESH:D007248 Infertility, Male vinclozolin 6.5616467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8312200463 12878042
MESH:D007251 Influenza, Human Selenium 10.8616624496
MESH:D007251 Influenza, Human Vitamin E 10.8616624496
MESH:D007333 Insulin Resistance Estradiol 7.1016627594 16393666
MESH:D007333 Insulin Resistance pirinixic acid 7.1016306350
MESH:D007569 Jaw Abnormalities Ethanol 9.9815513904
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 9.9816580747
MESH:D007674 Kidney Diseases Acetaminophen 9.8915629191 12587719
MESH:D007674 Kidney Diseases Estradiol 9.8915618244
MESH:D007674 Kidney Diseases Vitamin E 9.8912488133
MESH:D007676 Kidney Failure, Chronic Selenium 3.8416518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 12.1816705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 12.1816705839
MESH:D007680 Kidney Neoplasms Estradiol 12.1815610895
MESH:D007859 Learning Disorders Ethanol 4.1715451040
MESH:D007984 Leydig Cell Tumor vinclozolin 4.7016417039
MESH:D017880 Limb Deformities, Congenital Ethanol 3.7817676605
MESH:D008103 Liver Cirrhosis Ethanol 3.3515289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.0618295389
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 8.6914716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 8.6918166357
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 8.6915474484
MESH:D008106 Liver Cirrhosis, Experimental Sirolimus 8.6917050028
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 8.6912878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 8.6916169303
MESH:D008107 Liver Diseases Acetaminophen 1.6216611625 19784758 11587558 12969438 12587719 19014921 16610002 19460945
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.6117207112 17347304
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 10.557678174
MESH:D008113 Liver Neoplasms Clofibric Acid 10.5517602206
MESH:D008113 Liver Neoplasms pirinixic acid 10.5520007298 16377806 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.5516984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 5.646135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 5.6412151625
MESH:D008171 Lung Diseases Vitamin E 3.1516863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2911884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 2.2911062179
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 5.9211408345 11807958 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Selenium 5.9215318939
MESH:D020149 Manganese Poisoning Estradiol 4.4519453300
MESH:D008545 Melanoma Sirolimus 3.2119282848
MESH:D008546 Melanoma, Experimental Acetaminophen 3.5319513568
MESH:D008569 Memory Disorders Ethanol 4.1515451040 18411066
MESH:D008654 Mesothelioma Selenium 2.7715107826
MESH:D009062 Mouth Neoplasms Sirolimus 4.6719435901
MESH:D009135 Muscular Diseases pirinixic acid 3.4716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 2.9812213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.1316810080
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 8.1316411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.2318551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.2318551238 7678174
MESH:D009369 Neoplasms pirinixic acid 1.9317405874
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7017289903
MESH:D009421 Nervous System Malformations Estradiol 9.3316427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 9.3314600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.8318514411
MESH:D018242 Neuroectodermal Tumors, Primitive marker/mechanism 12162413
MESH:D009765 Obesity pirinixic acid 1.8020558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 8.7512819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 8.7516049721
MESH:D010051 Ovarian Neoplasms Estradiol 2.2019401270
MESH:D010146 Pain Acetaminophen 2.3516870215
MESH:D010190 Pancreatic Neoplasms Ethanol 2.9512384795
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6511578682
MESH:D010300 Parkinson Disease Sirolimus 3.7219682553
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2212520081
MESH:D010954 Plasmacytoma Selenium 4.8615087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5218163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.3711399792 11118676 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 9.3718042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 4.9018220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8420887781
MESH:D011471 Prostatic Neoplasms Estradiol 3.2516740699
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2515084515
MESH:D011472 Prostatitis vinclozolin 4.9018629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.2816919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.3619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8018990726
MESH:D012512 Sarcoma, Ewing's marker/mechanism 16646077
MESH:D012640 Seizures 2,4-dinitrotoluene 9.7018551238
MESH:D012640 Seizures 2,6-dinitrotoluene 9.7018551238
MESH:D012640 Seizures Ethanol 9.709754883
MESH:D012871 Skin Diseases Vitamin E 2.4318709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0216192470
MESH:D013088 Spermatocele Ethinyl Estradiol 3.9116709447
MESH:D013274 Stomach Neoplasms Ethanol 2.3018456281
MESH:D013276 Stomach Ulcer Ethanol 3.4917189318 17918041 9562338 11906479 9211565 16755016
MESH:D020521 Stroke Vitamin E 3.4816517955
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.219754883
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.5811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1115669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.8712697716
MESH:D013978 Tibial Fractures Estradiol 4.6619048282
MESH:D014402 Tuberous Sclerosis Sirolimus 5.5318495876 21115397
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 4.9516049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 4.9516049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 11.8710091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 11.8710091137
MESH:D014581 Urticaria Acetaminophen 2.9410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.2614692618
MESH:D014605 Uveitis Sirolimus 5.601336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.5712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5014671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2215886252
No data
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  (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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