AutismKB 2.0

Annotation Detail for RUVBL1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:RUVBL1 ( ECP54,INO80H,NMP238,PONTIN,Pontin52,RVB1,TIH1,TIP49,TIP49A )
Gene Full Name: RuvB-like 1 (E. coli)
Band: 3q21.3
Quick LinksEntrez ID:8607; OMIM: 603449; Uniprot ID:RUVB1_HUMAN; ENSEMBL ID: ENSG00000175792; HGNC ID: 10474
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04310Wnt signaling pathway
Pathway IDPathway Name
Chromosome Maintenance
Pathway IDPathway Name
200093C-MYC pathway
No data
Pathway IDPathway Name
500664Deposition of New CENPA-containing Nucleosomes at the Centromere
500667Telomere Extension By Telomerase
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 RUVBL1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of RUVBL1 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of RUVBL1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of RUVBL1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of RUVBL1 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in increased expression of RUVBL1 proteinincreases expression 19364129
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of RUVBL1 mRNAdecreases expression 20064835
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of RUVBL1 proteindecreases expression 20097212
C014347 decitabine decitabine affects the expression of RUVBL1 mRNAaffects expression 17145863
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of RUVBL1 mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of RUVBL1 mRNAdecreases expression 17557909
D005419 Flavonoids Flavonoids results in increased expression of RUVBL1 mRNAincreases expression 18035473
C006253 pirinixic acid pirinixic acid results in increased expression of RUVBL1 mRNAincreases expression 17950772
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of RUVBL1 mRNA]increases expression|increases reaction 17950772
D012643 Selenium Selenium results in increased expression of RUVBL1 mRNAincreases expression 19244175
D018038 Sodium Selenite Sodium Selenite results in increased expression of RUVBL1 mRNAincreases expression 18175754
D014212 Tretinoin Tretinoin results in decreased expression of RUVBL1 proteindecreases expression 17051635
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.037525203
MESH:D000138 Acidosis Ammonium Chloride 3.6418287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.0417505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.1718653653
MESH:D000230 Adenocarcinoma arsenic trioxide 7.1019825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.1020464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.1014692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.686695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.5616434500
MESH:D000505 Alopecia Tretinoin 3.6615955085
MESH:D000799 Angioedema Acetaminophen 3.9410982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.1519183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.5411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.3115885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.3116412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2716292516
MESH:D001249 Asthma Tretinoin 2.3616456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001471 Barrett Esophagus Tretinoin 4.4716935849
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 15.6816206674
MESH:D001778 Blood Coagulation Disorders pirinixic acid 15.6819483382
MESH:D001778 Blood Coagulation Disorders Tretinoin 15.6816206674 16197459
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9217474063 20146248
MESH:D001943 Breast Neoplasms decitabine 1.9218320071 19208741
MESH:D001943 Breast Neoplasms Tretinoin 1.9216443354 16166294 16873071
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.6716813970
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.3911589617
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.2616168501
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 8.9516705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 8.9516705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 8.953084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 8.9515553829 14691202 16217749 11135700 15073043
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 8.951917145
MESH:D002291 Carcinoma, Papillary arsenic trioxide 4.9719014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.1712490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 7.6320419170
MESH:D002294 Carcinoma, Squamous Cell decitabine 7.6319215824
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 7.6316096774 16051514
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 12.5514694615
MESH:D002386 Cataract Acetaminophen 12.5510977129
MESH:D002386 Cataract Tretinoin 12.5517460283
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.816135515
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.6716129372
MESH:D002779 Cholestasis Ethinyl Estradiol 7.8817110522 16919318 17333356 17681005 15861022 16105132 11677210
MESH:D002779 Cholestasis pirinixic acid 7.8819176532
MESH:D002822 Choriocarcinoma Tretinoin 5.2616461808
MESH:D019457 Chromosome Breakage Sodium Selenite 4.8215894690
MESH:D002972 Cleft Palate Tretinoin 2.699407595
MESH:D003092 Colitis Selenium 9.7417936198
MESH:D003092 Colitis Tretinoin 9.7417035595
MESH:D003110 Colonic Neoplasms decitabine 2.3417616700
MESH:D015179 Colorectal Neoplasms arsenic trioxide 2.5920501625
MESH:D015179 Colorectal Neoplasms decitabine 2.5918981723
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.2115095906
MESH:D023903 Coronary Restenosis arsenic trioxide 4.2512609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.6910525206
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.699224671 10589399 9211117 14991402 16925845 17551590 9664655 9125849 9142499 8800419
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.1418551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.1418551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.1515213294
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4518249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.8216285004
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 15.4821346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 15.4821346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 15.4821346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 15.4819923254 16109766 15619225 19416960 19420014 16081117 15968718 12705907 10774834 11739529 19370779 19085960 17522070 11461765 16485898 18071297 19164858 16177239 11421492 11743745 2444490 14550746 12392966 12153990 12594235 12958197 16393943 11287661 17562736 16227642 12540782 16781746 10663392 18713872 14725611 10915739 17906064 11529661 14986274 19739265 11834606
MESH:D056486 Drug-Induced Liver Injury Selenium 15.4815131321
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 15.4815131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.1919426721
MESH:D004487 Edema pirinixic acid 2.5312083418
MESH:D004489 Edema, Cardiac Tretinoin 4.5618230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2512538720
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.2119294695
MESH:D016889 Endometrial Neoplasms Tretinoin 3.1416569247
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.4812903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.4816530937
MESH:D005124 Eye Abnormalities Tretinoin 3.6216938888 9664655
MESH:D005234 Fatty Liver arsenic trioxide 13.3815073043
MESH:D005234 Fatty Liver Ethinyl Estradiol 13.3815345470
MESH:D005234 Fatty Liver pirinixic acid 13.3820131406 19236843
MESH:D005355 Fibrosis Tretinoin 3.5817994277
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.3316904648
MESH:D005756 Gastritis Acetaminophen 3.7716983495
MESH:D005909 Glioblastoma Tretinoin 3.0417312396
MESH:D006258 Head and Neck Neoplasms decitabine 7.9519215824
MESH:D006258 Head and Neck Neoplasms Tretinoin 7.9516096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.2616084493
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7420471113
MESH:D006330 Heart Defects, Congenital Tretinoin 6.7414991402 9664655
MESH:D006333 Heart Failure pirinixic acid 7.0620558911
MESH:D006333 Heart Failure Selenium 7.0617162251
MESH:D006529 Hepatomegaly pirinixic acid 3.0718467677 19176532 16221962 19772884
MESH:D006930 Hyperalgesia Acetaminophen 7.7716870215
MESH:D006930 Hyperalgesia Tretinoin 7.7716870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.6416778211
MESH:D006943 Hyperglycemia pirinixic acid 3.2320558911
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8816569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.5212013081
MESH:D007248 Infertility, Male decitabine 6.8417581917
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.8417937319
MESH:D007249 Inflammation Flavonoids 2.6717296493
MESH:D007251 Influenza, Human Selenium 4.2916624496
MESH:D007333 Insulin Resistance pirinixic acid 7.4216306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.4214714311
MESH:D007410 Intestinal Diseases Tretinoin 3.8417994277
MESH:D007569 Jaw Abnormalities Tretinoin 3.9515992940 17551590
MESH:D007674 Kidney Diseases Acetaminophen 2.2312587719 15629191
MESH:D007676 Kidney Failure, Chronic Selenium 3.9416518626
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.5116705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.5116705839
MESH:D007938 Leukemia arsenic trioxide 10.6615070760
MESH:D007938 Leukemia decitabine 10.6619235587 18980019
MESH:D007938 Leukemia Tretinoin 10.6617143497
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.8512560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.3916972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.4714633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 16.3319077051
MESH:D007951 Leukemia, Myeloid decitabine 16.3318454857 19117987 17236224
MESH:D007951 Leukemia, Myeloid Tretinoin 16.3316932348 16482212 19285840
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 6.2120471514 19850784 16467208 16968895 17050201
MESH:D015470 Leukemia, Myeloid, Acute decitabine 6.2117679729 18206229 19387464 18460780 19010910 18704418
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 6.2117596541 19850784 16294345
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.5618055864
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 7.7511468182 15622746 17649720 16331271 9834237 16330433 19225113 12018890 16966277 12679006 16823087 17869043 15213294 17107899 19642359 12712474 16891316 17217047 16112521 15336539 19075265 17712046 19035177 15748426 11161223
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 7.7516140955 17649720 15748426 19075265 17712046 16788101 17217047 16823087 19642359 17294898 17339181 19035177 19225113 17506722 16331271 17361223 17368321 17301526 17107899 9834237 16766008 16891316 12679006 16935935 19029980
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.4216882451
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.349224671
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3615474484
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 2.3616248980 18397230
MESH:D008107 Liver Diseases Acetaminophen 1.6419460945 16611625 16610002 11587558 19014921 12587719 12969438 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.2916871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 10.857678174
MESH:D008113 Liver Neoplasms arsenic trioxide 10.8514682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 10.8521137059 20195826
MESH:D008113 Liver Neoplasms pirinixic acid 10.8520007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.076135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.0720377131
MESH:D008133 Long QT Syndrome arsenic trioxide 3.3915213294
MESH:D008175 Lung Neoplasms arsenic trioxide 2.4311798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.436695378 18816296 17053015 18569708 18520028 20135361 20064080 20869020 20464547
MESH:D008223 Lymphoma decitabine 3.4619470736
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.1214737004
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.7915318939
MESH:D008527 Medulloblastoma Tretinoin 2.8017453147
MESH:D008545 Melanoma decitabine 3.4516505122 17785578
MESH:D008545 Melanoma Tretinoin 3.4516752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.6419513568
MESH:D008591 Meningomyelocele Tretinoin 4.5016940565
MESH:D008654 Mesothelioma Selenium 2.8115107826
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.2316381670
MESH:D009101 Multiple Myeloma arsenic trioxide 7.5014977855 19549372 15949261 11468182 19417148
MESH:D009101 Multiple Myeloma decitabine 7.5018172295
MESH:D009135 Muscular Diseases pirinixic acid 3.5816239165
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.7718349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 12.5116882451 16105982
MESH:D009190 Myelodysplastic Syndromes decitabine 12.5119010910 18608210 16882708 19157545
MESH:D009190 Myelodysplastic Syndromes Tretinoin 12.5117596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.1619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 2.9916411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 10.6318551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 10.637678174 18551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.0216624393
MESH:D009369 Neoplasms Benzo(a)pyrene 12.0711141357
MESH:D009369 Neoplasms decitabine 12.0717925555 19470736 19116145
MESH:D009369 Neoplasms pirinixic acid 12.0717405874
MESH:D009369 Neoplasms Tretinoin 12.0716594593 16946489
MESH:D009421 Nervous System Malformations Tretinoin 3.849125849
MESH:D009436 Neural Tube Defects arsenic trioxide 7.4210525206
MESH:D009436 Neural Tube Defects Tretinoin 7.429142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 2.9118514411
MESH:D009765 Obesity pirinixic acid 1.8220558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 15.4616049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 15.4616049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 15.4614694615
MESH:D010051 Ovarian Neoplasms arsenic trioxide 8.0219769630 16624393 12452020
MESH:D010051 Ovarian Neoplasms decitabine 8.0219331143 19259094
MESH:D010051 Ovarian Neoplasms Tretinoin 8.0216936753
MESH:D010146 Pain Acetaminophen 6.7416870215
MESH:D010146 Pain Tretinoin 6.7416870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 8.7715580305
MESH:D010190 Pancreatic Neoplasms decitabine 8.7719294695
MESH:D010190 Pancreatic Neoplasms Tretinoin 8.7715976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.7511578682
MESH:D010235 Paraganglioma arsenic trioxide 4.2219927285
MESH:D010954 Plasmacytoma Selenium 4.9915087411
MESH:D055728 Primary Myelofibrosis decitabine 4.8017616702
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.5519131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5517292933
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.5518760546
MESH:D011507 Proteinuria Tretinoin 3.6616636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.3915861022 16919318
MESH:D011625 Pterygium Tretinoin 4.8816723453
MESH:D015427 Reperfusion Injury pirinixic acid 2.4119058328
MESH:D012208 Rhabdomyosarcoma decitabine 11.1519155313
MESH:D012208 Rhabdomyosarcoma Tretinoin 11.1516283617 16116481
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.0216646077
MESH:D012640 Seizures 2,4-dinitrotoluene 5.9918551238
MESH:D012640 Seizures 2,6-dinitrotoluene 5.9918551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.7610029692 19755658
MESH:D012878 Skin Neoplasms Tretinoin 5.7616467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.0416709447
MESH:D013274 Stomach Neoplasms arsenic trioxide 4.7617007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 4.7620155912 2093021
MESH:D013274 Stomach Neoplasms decitabine 4.7619037991
MESH:D013274 Stomach Neoplasms Tretinoin 4.7617261132
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2015669648
MESH:D013964 Thyroid Neoplasms arsenic trioxide 12.2719014326
MESH:D013964 Thyroid Neoplasms decitabine 12.2717967635
MESH:D013964 Thyroid Neoplasms Tretinoin 12.2716026305 17045167
MESH:D014062 Tongue Neoplasms Tretinoin 3.8416051514
MESH:D016171 Torsades de Pointes arsenic trioxide 4.0415213294
MESH:D014376 Tuberculosis Tretinoin 3.2616040207
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 16.0216049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 16.0216049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 16.0212973940 20435036 12845720 11780464
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 16.0217053015
MESH:D001749 Urinary Bladder Neoplasms decitabine 16.0219087683 17616700
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.2710091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.2710091137
MESH:D014581 Urticaria Acetaminophen 3.0310982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.7316129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3614692618
MESH:D014604 Uveal Neoplasms decitabine 13.1617785578
MESH:D014604 Uveal Neoplasms Tretinoin 13.1616752155
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5915869587 14671159
MESH:D014820 Vitiligo Tretinoin 4.1216761959
MESH:D009396 Wilms Tumor Tretinoin 4.0216287080
Pathway ID Pathway Name
REACT:22172 Chromosome Maintenance
KEGG:04310 Wnt signaling pathway
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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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