AutismKB 2.0

Annotation Detail for RBX1


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Basic Information Top
Gene Symbol:RBX1 ( BA554C12.1,FLJ60363,MGC13357,MGC1481,RNF75,ROC1 )
Gene Full Name: ring-box 1, E3 ubiquitin protein ligase
Band: 22q13.2
Quick LinksEntrez ID:9978; OMIM: 603814; Uniprot ID:RBX1_HUMAN; ENSEMBL ID: ENSG00000100387,ENSG00000196236; HGNC ID: 9928
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04710Circadian rhythm - mammal
hsa04141Protein processing in endoplasmic reticulum
hsa04310Wnt signaling pathway
hsa03420Nucleotide excision repair
hsa04120Ubiquitin mediated proteolysis
hsa04350TGF-beta signaling pathway
hsa05211Renal cell carcinoma
hsa04110Cell cycle
hsa04114Oocyte meiosis
hsa05200Pathways in cancer
Pathway IDPathway Name
Signaling in Immune system
HIV Infection
Pathway IDPathway Name
200122Hypoxic and oxygen homeostasis regulation of HIF-1-alpha
No data
Pathway IDPathway Name
500490Interleukin-1 signaling
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 RBX1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of RBX1 mRNAaffects expression 21346803
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of RBX1 mRNAdecreases expression 12958071
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane affects the expression of RBX1 mRNAaffects expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of RBX1 mRNAaffects expression 17562736
C099555 CD 437 CD 437 results in decreased expression of RBX1 mRNAdecreases expression 12958071
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of RBX1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of RBX1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of RBX1 mRNAaffects cotreatment|decreases expression 17942748
D015073 2-Acetylaminofluorene 2-Acetylaminofluorene results in increased expression of RBX1 mRNAincreases expression 17317680
D013629 Tamoxifen Tamoxifen affects the expression of RBX1 mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of RBX1 mRNAaffects cotreatment|decreases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of RBX1 mRNAdecreases expression 19465110
D013755 Tetradecanoylphorbol Acetate Tetradecanoylphorbol Acetate results in increased expression of RBX1 mRNAincreases expression 19031421
C025643 vinclozolin vinclozolin results in decreased expression of RBX1 mRNAdecreases expression 18042343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.7214745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0015322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8314692618
MESH:D000236 Adenoma 2-Acetylaminofluorene 7.2010737359
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.203712494
MESH:D002759 Adenoma, Bile Duct 2-Acetylaminofluorene 6.186705139
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5316835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7319015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6011256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7315885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.191440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D001943 Breast Neoplasms Tamoxifen 1.9520544844 18855134 19059307 19221464 19288272 18821012 18815881 19066611 19289846 19189212 17893378 18997820 15565566 20065188 19487384 17242785 16873071 19142967 17049068 18629630 16273361 19084267 20390343 16202921 20859285 20005174 17440819 19011961 21138602 18984771 19103187 11161223 15668708 20135344 19244106 18351453 17261762 16818667 21152245 19189210 19410462 19155303 19200415 19115204 18425577
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.6419066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 11.6116705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 11.6116705839
MESH:D006528 Carcinoma, Hepatocellular 2-Acetylaminofluorene 11.616705139 17761372 3581430 10737359 3084413
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 11.617296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 11.613084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 11.6116924424
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.727296757
MESH:D002294 Carcinoma, Squamous Cell Tetradecanoylphorbol Acetate 2.9918922899
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7217572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4218850075 16120746 18670907
MESH:D002386 Cataract Acetaminophen 2.6410977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.916135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 6.917505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2616835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.139022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1311677210 16919318 17110522 16105132 17333356 15861022 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.148697196 12621046 15340226 16354765 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1617141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003456 Cryptorchidism vinclozolin 4.4714966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.3618551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.3618551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5019031437
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.948156756 11298694 12868966 8970840 18759878 11906362 2524372 14531868
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.612952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.5719279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.3318551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.3318551238 21346803
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.331440618 9328219 7440962 18692083 18289764 9653073 16192314 11289319 9022650 18648102 6679447 6482804 8291058
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.3319923254 17522070 18071297 11834606 14725611 19085960 11739529 16081117 18713872 15968718 14550746 16227642 12594235 11287661 2444490 10915739 17906064 15619225 19416960 12958197 10774834 16177239 11743745 19420014 12153990 16109766 16781746 19739265 16393943 14986274 11529661 11421492 19370779 12392966 17562736 12540782 11461765 12705907 16485898 19164858 10663392
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.3320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3212711302 11000095
MESH:D004487 Edema Tetradecanoylphorbol Acetate 7.3211698051 9599246 8113982 8273558 15177302 7812673 16716910
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0815322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.3712538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.3719031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1119155303 16202921 20544844 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.129294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.133581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.0615345470
MESH:D005234 Fatty Liver Tamoxifen 8.0619224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3016709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.196705139
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.6814745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.3419069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0920067830
MESH:D005756 Gastritis Acetaminophen 3.8516983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.0916973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.4716417039
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.157505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3811294989 10048152
MESH:D006390 Hemangioendothelioma 2-Acetylaminofluorene 5.496705139
MESH:D006394 Hemangiosarcoma 2-Acetylaminofluorene 4.516705139
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.646705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0315340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.228697196 16959395 15340226 16354765 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.7916870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0815034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9418670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9516945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.9017937319
MESH:D007248 Infertility, Male vinclozolin 6.9016467254
MESH:D007249 Inflammation Tamoxifen 8.6819457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.6812200463 12878042
MESH:D007249 Inflammation Tetradecanoylphorbol Acetate 8.6815177302 11698051 8273558 7562506 7812673
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.198074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2615629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 18.5416705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 18.5416705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 18.546582329
MESH:D007680 Kidney Neoplasms Tamoxifen 18.5418625569
MESH:D007984 Leydig Cell Tumor vinclozolin 4.8916417039
MESH:D008064 Lipidoses Tamoxifen 3.2317567588 15342952
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.2615034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3118564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3112878042
MESH:D008107 Liver Diseases Acetaminophen 1.6516611625 12969438 16610002 12587719 19014921 11587558 19784758 19460945
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3417185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.057678174
MESH:D008113 Liver Neoplasms 2-Acetylaminofluorene 11.0518001218 16273603 10737359 11376686 10672840 14678523
MESH:D008113 Liver Neoplasms Tamoxifen 11.0516684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0516984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.706135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental 2-Acetylaminofluorene 14.701399818 6150874 534488
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 14.706587162 1399818 598648 3712494
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.7012151625
MESH:D008175 Lung Neoplasms 2-Acetylaminofluorene 5.0011376686
MESH:D008175 Lung Neoplasms Tamoxifen 5.0018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 5.0019555203 11884234
MESH:D008175 Lung Neoplasms Tetradecanoylphorbol Acetate 5.0011807781
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 3.9119428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.4911731420 16827153 19196723 19196722 14580682
MESH:D008325 Mammary Neoplasms, Experimental Tetradecanoylphorbol Acetate 6.498985016
MESH:D020149 Manganese Poisoning Tamoxifen 4.7219453300
MESH:D008545 Melanoma Tamoxifen 1.8919393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.3415990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.8718551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.8718551238 7678174
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 5.833581430
MESH:D009362 Neoplasm Metastasis Tamoxifen 5.8319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5519410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.1719189210 19196722 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3414600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.986679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9618514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 15.6816049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 15.6816049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 15.684026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.193988306
MESH:D010051 Ovarian Neoplasms CD 437 3.3417474084
MESH:D010146 Pain Acetaminophen 2.4816870215
MESH:D010190 Pancreatic Neoplasms Tetradecanoylphorbol Acetate 3.1715976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8011578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 9.867296757
MESH:D010212 Papilloma Tetradecanoylphorbol Acetate 9.868330346 12065085 18922899 18404319
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.646228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.0111118676 11399792 11896295 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.0118042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.0918220299
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.1315067354
MESH:D011472 Prostatitis vinclozolin 5.0918629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.4715861022 16919318
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.463692021
MESH:D012640 Seizures 2,4-dinitrotoluene 6.1118551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.1118551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.9716192470
MESH:D012878 Skin Neoplasms Tetradecanoylphorbol Acetate 5.9711807781 8985016 8330346 18404319 12065085
MESH:D013088 Spermatocele Ethinyl Estradiol 12.1516709447
MESH:D013088 Spermatocele Tamoxifen 12.1516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.1919457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 2.977505956 1399818 6587162 6582329 3712494
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 20.4316049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 20.4316049721
MESH:D001749 Urinary Bladder Neoplasms 2-Acetylaminofluorene 20.431399818 15867355 15289314
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 20.438074119
MESH:D001749 Urinary Bladder Neoplasms CD 437 20.4316720286
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 20.4316712894 17572228 8653321
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.5110091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.5110091137
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4214692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6514671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
Pathway ID Pathway Name
KEGG:04110 Cell cycle
KEGG:04710 Circadian rhythm - mammal
REACT:6185 HIV Infection
KEGG:03420 Nucleotide excision repair
KEGG:04114 Oocyte meiosis
KEGG:05200 Pathways in cancer
KEGG:04141 Protein processing in endoplasmic reticulum
KEGG:05211 Renal cell carcinoma
REACT:6900 Signaling in Immune system
KEGG:04350 TGF-beta signaling pathway
KEGG:04120 Ubiquitin mediated proteolysis
KEGG:04310 Wnt signaling pathway
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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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