AutismKB 2.0

Annotation Detail for UBR5


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Basic Information Top
Gene Symbol:UBR5 ( DD5,EDD,EDD1,FLJ11310,HYD,KIAA0896,MGC57263 )
Gene Full Name: ubiquitin protein ligase E3 component n-recognin 5
Band: 8q22.3
Quick LinksEntrez ID:51366; OMIM: 608413; Uniprot ID:UBR5_HUMAN; ENSEMBL ID: ENSG00000104517; HGNC ID: 16806
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04120Ubiquitin mediated proteolysis
No data
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of UBR5 mRNAaffects expression 21346803
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of UBR5 mRNAincreases expression 20064835
D005419 Flavonoids Flavonoids results in decreased expression of UBR5 mRNAdecreases expression 18035473
D007213 Indomethacin Indomethacin results in decreased expression of UBR5 mRNAdecreases expression 16984733
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of UBR5 mRNAaffects binding|increases activity|increases expression 19710929
D013629 Tamoxifen Tamoxifen affects the expression of UBR5 mRNAaffects expression 14699072
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of UBR5 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9914745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2415322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.7320127859 20464547
MESH:D000230 Adenocarcinoma Indomethacin 4.7316537180
MESH:D000236 Adenoma Benzo(a)pyrene 7.346695378
MESH:D000236 Adenoma Indomethacin 7.3411497255
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.2616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2616835633
MESH:D016301 Alveolar Bone Loss Indomethacin 5.8117225004
MESH:D000544 Alzheimer Disease Indomethacin 2.7517627676 15579461
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001014 Aortic Aneurysm Indomethacin 5.1810231640
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 12.9419183758
MESH:D017544 Aortic Aneurysm, Abdominal Indomethacin 12.9410388637
MESH:D018771 Arthralgia Indomethacin 5.612160914
MESH:D001172 Arthritis, Rheumatoid Indomethacin 2.8711248219
MESH:D001477 Bartter Syndrome Indomethacin 5.3410684365
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.7319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001929 Brain Edema Indomethacin 5.4711481608
MESH:D002545 Brain Ischemia Indomethacin 4.8112524144
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9820146248 17474063
MESH:D001943 Breast Neoplasms Indomethacin 1.9817401462
MESH:D001943 Breast Neoplasms Tamoxifen 1.9818821012 17440819 19244106 19142967 18997820 19011961 19289846 20390343 19103187 19189210 19155303 19084267 18351453 20005174 19059307 17049068 16273361 20859285 11161223 15565566 18425577 16873071 20065188 18855134 17242785 19410462 19066611 15668708 16818667 17893378 20135344 18815881 21152245 19200415 19221464 17261762 19115204 19487384 19189212 18984771 19288272 21138602 16202921 20544844 18629630
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9820435547
MESH:D002056 Burns Indomethacin 5.0610459503
MESH:D002100 Cachexia Indomethacin 5.4011239499 16537180 15625704 15141370
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8719066611
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.8616705839
MESH:D006528 Carcinoma, Hepatocellular Indomethacin 4.8616391822
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.8616924424
MESH:D018827 Carcinoma, Lewis Lung Indomethacin 5.1211053908
MESH:D018276 Carcinoma, Medullary Indomethacin 5.7511352223 18791128 14736730
MESH:D002292 Carcinoma, Renal Cell Indomethacin 3.4817341418
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9920419170
MESH:D002294 Carcinoma, Squamous Cell Indomethacin 4.9915482327 12636206
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8817572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5016120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.956135515
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002764 Cholecystitis Indomethacin 5.6111181007
MESH:D002779 Cholestasis pirinixic acid 3.0319176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015668235 15340226 12621046 8697196 16354765
MESH:D003110 Colonic Neoplasms Indomethacin 2.6315936596 15637740 15963497 15786552 15625704 11260862
MESH:D015179 Colorectal Neoplasms Indomethacin 2.3611197048 12606626 18059344 17054584
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
MESH:D018352 Coronavirus Infections Indomethacin 6.1617302372
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3818551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.7219031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.7219279558
MESH:D003967 Diarrhea Indomethacin 4.127907874 7237001
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 3.9221346803 18551238
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004374 Ductus Arteriosus, Patent Indomethacin 5.5518043480 16326151 17190690 18446180 16133044 12774134
MESH:D004381 Duodenal Ulcer Indomethacin 4.4617329845 17045617 11991626 17202747 11595431 17151854 16699067 17351913 11595415 11535926 10671773
MESH:D004487 Edema Indomethacin 13.148985016 19703484 7990266 7907874 16100529 10653021 8273558
MESH:D004487 Edema pirinixic acid 13.1412083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 13.1411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3518230668 16714409 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 3.8719031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2120544844 19155303 17893378 16202921
MESH:D004715 Endometriosis Indomethacin 9.9615652904
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.9610568697 9294722
MESH:D019446 Endotoxemia Indomethacin 4.9018509659
MESH:D004751 Enteritis Indomethacin 5.1917763956 10567023 16328016
MESH:D020345 Enterocolitis, Necrotizing Indomethacin 5.3417980183
MESH:D004802 Eosinophilia Indomethacin 4.4111298111
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.8116530937
MESH:D004938 Esophageal Neoplasms Indomethacin 4.8111005569
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver pirinixic acid 8.6320131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 8.6314986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3916709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005334 Fever Indomethacin 4.3817627676 10431976 11852909
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.9214745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5819069698
MESH:D005354 Fibrosarcoma Indomethacin 5.2910962813
MESH:D005355 Fibrosis Indomethacin 10.0517994277
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 10.0520067830
MESH:D005499 Folliculitis Indomethacin 5.6111298111
MESH:D005756 Gastritis Indomethacin 5.1915046732
MESH:D005909 Glioblastoma Indomethacin 3.7312870263
MESH:D005910 Glioma Indomethacin 3.3116487511 18371953
MESH:D005923 Glomerulosclerosis, Focal Segmental Indomethacin 4.5111849393
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006073 Gout Indomethacin 5.7511248219
MESH:D006258 Head and Neck Neoplasms Indomethacin 3.9215482327
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8820471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8810048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006501 Hepatic Encephalopathy Indomethacin 4.8515633222
MESH:D019698 Hepatitis C, Chronic Indomethacin 5.0115135802
MESH:D006529 Hepatomegaly pirinixic acid 9.4819772884 18467677 16221962 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4815340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4916354765 18606429 16959395 15340226 8697196
MESH:D006930 Hyperalgesia Indomethacin 3.9912727271
MESH:D034321 Hyperamylasemia Indomethacin 6.1617883296
MESH:D006940 Hyperemia Indomethacin 5.4012524144
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006949 Hyperlipidemias Indomethacin 4.4717546600
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
MESH:D007077 Ileal Diseases Indomethacin 5.4718306037 10574470
MESH:D007079 Ileitis Indomethacin 5.7510651667 10647630 16133968
MESH:D007235 Infant, Premature, Diseases Indomethacin 5.8116133044
MESH:D007249 Inflammation Flavonoids 13.0817296493
MESH:D007249 Inflammation Indomethacin 13.083291741 7812673 12568917
MESH:D007249 Inflammation Tamoxifen 13.0819457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 13.0812200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D007410 Intestinal Diseases Indomethacin 4.6811713966 11855677 18236018 11686837 17329856 15610444 17994277 15831440 10210152
MESH:D019586 Intracranial Hypertension Indomethacin 5.8115241188
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007579 Jejunal Diseases Indomethacin 5.4716133968 10574470 18306037
MESH:D007674 Kidney Diseases Indomethacin 3.4117190690
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 8.1716705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.1718625569
MESH:D016773 Leishmaniasis, Cutaneous Indomethacin 4.1412228301 11703811 10320625
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Indomethacin 4.1316572323 15631656 10785260
MESH:D015470 Leukemia, Myeloid, Acute Indomethacin 2.6718360721
MESH:D007964 Leukocytosis Indomethacin 5.8116537180
MESH:D007969 Leukomalacia, Periventricular Indomethacin 6.1617980183
MESH:D008064 Lipidoses Tamoxifen 3.3515342952 17567588
MESH:D008101 Liver Abscess, Amebic Indomethacin 6.1611479899
MESH:D008106 Liver Cirrhosis, Experimental Indomethacin 5.1718194892
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.1715474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 5.1718564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.1712878042
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 15.207678174
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 15.2021137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 15.2015890375 16377806 20007298
MESH:D008113 Liver Neoplasms Tamoxifen 15.2016684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 15.2016984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.276135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 5.0620464547 18569708 17053015 6695378 18520028 18816296 20135361 20064080 20869020
MESH:D008175 Lung Neoplasms Indomethacin 5.0611053908 11497255 16537180
MESH:D008175 Lung Neoplasms Tamoxifen 5.0618625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.0619555203 11884234
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1519428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7914580682 19196723 11731420 16827153 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 4.9919453300
MESH:D008545 Melanoma Tamoxifen 1.9112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5815990972
MESH:D008881 Migraine Disorders Indomethacin 3.8611903285
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 9.3716381670
MESH:D009062 Mouth Neoplasms Indomethacin 9.3712636206
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.267678174 18551238
MESH:D009362 Neoplasm Metastasis Indomethacin 6.2611239499 11053908 16537180
MESH:D009362 Neoplasm Metastasis Tamoxifen 6.2619393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5919410462
MESH:D009369 Neoplasms Benzo(a)pyrene 5.2211141357
MESH:D009369 Neoplasms pirinixic acid 5.2217405874
MESH:D009374 Neoplasms, Experimental Indomethacin 4.4910663608 15625704
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.4419196722 19200415 19189210
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D019636 Neurodegenerative Diseases Indomethacin 4.1712349958
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D007752 Obstetric Labor, Premature Indomethacin 5.616374098
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.7016049721
MESH:D010003 Osteoarthritis Indomethacin 3.827009135
MESH:D010146 Pain Indomethacin 3.6917627676 3291741 17440234 13679232
MESH:D010149 Pain, Postoperative Indomethacin 5.1212538197 18702446
MESH:D010195 Pancreatitis Indomethacin 4.2217883296 15028970
MESH:D010257 Paraneoplastic Syndromes Indomethacin 6.1616537180
MESH:D020734 Parkinsonian Disorders Indomethacin 4.3812349958
MESH:D051302 Paroxysmal Hemicrania Indomethacin 6.1611903285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010437 Peptic Ulcer Indomethacin 5.5511148446
MESH:D010518 Periodontitis Indomethacin 5.3617225004
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D047928 Premature Birth Indomethacin 5.4917000239
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911896295 11118676 11399792 11222880
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.0717292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0715067354
MESH:D011507 Proteinuria Indomethacin 4.4711849393
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.7118551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8519755658 10029692
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8516192470
MESH:D013088 Spermatocele Tamoxifen 4.7416709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.4319457130
MESH:D013272 Stomach Diseases Indomethacin 4.8116184426 15472012 16280098 17160473 16113693 18209964 18545984 15038085 17638125 10486359 10215738 10192188 17207306
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.602093021 20155912
MESH:D013274 Stomach Neoplasms Indomethacin 2.6015609394
MESH:D013276 Stomach Ulcer Indomethacin 3.8611595431 15104355 18193104 14567935 17977527 16150113 1323529 18431645 11523592 12498302 18181030 17135157 17918041 17627676 17895592 18087811 18237397 11729361 18209962 18299717 16934674 11145282 17657623 10750652 18726076 16397915 17654042 12467913 11906479 18543354 16252198 12077510 10423059 15138204 12500499 16755016 11595415 16631530 12787963 10878458 16169175 15255614
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms Indomethacin 3.7911352223 14736730 18791128
MESH:D014456 Ulcer Indomethacin 5.2917380554 10574470
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.8216049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.8217053015
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 8.8217572228 8653321 16712894
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.7110091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D014839 Vomiting Indomethacin 5.1911897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
KEGG:04120 Ubiquitin mediated proteolysis
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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