AutismKB 2.0

Annotation Detail for RABEP2


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Basic Information Top
Gene Symbol:RABEP2 ( FLJ23282,FRA )
Gene Full Name: rabaptin, RAB GTPase binding effector protein 2
Band: 16p11.2
Quick LinksEntrez ID:79874; OMIM: 611869; Uniprot ID:RABE2_HUMAN; ENSEMBL ID: ENSG00000177548; HGNC ID: 24817
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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 RABEP2 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of RABEP2 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of RABEP2 mRNAaffects expression 16483693
C095105 bexarotene bexarotene results in increased expression of RABEP2 mRNAincreases expression 16648578
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of RABEP2 mRNAdecreases expression 15336504
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of RABEP2 mRNAaffects cotreatment|increases expression 17183730
C025299 polyphenols polyphenols results in decreased expression of RABEP2 mRNAdecreases expression 16293270
C052785 rebamipide rebamipide results in increased expression of RABEP2 mRNAincreases expression 15104358
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in decreased expression of RABEP2 mRNAaffects binding|decreases expression 16214954
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of RABEP2 mRNAincreases expression 19465110
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of RABEP2 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.1115322242 14514962 11752688
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6116835633
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.7117497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8620603192 18940202 18396377 17157402 15238991 18316065 19460635 16609825 18558336 18775368 17507914 18177632 18985861 17688650 19232924
MESH:D001714 Bipolar Disorder Valproic Acid 3.1520046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2112125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3715746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.378888407
MESH:D001943 Breast Neoplasms bexarotene 2.2316818667 16344269
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.2320435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 2.8916705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.893084413
MESH:D002289 Carcinoma, Non-Small-Cell Lung bexarotene 3.2816247446
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4516120746 18670907 18850075
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.886135515
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1615668235 8697196 12621046 15340226 16354765
MESH:D003110 Colonic Neoplasms polyphenols 2.7016293270
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5215322242 10048152 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.5216575769 17688650 8888407
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2318551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.5121346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5119420014 10915739 10774834 14725611 10663392 11739529 17522070 17906064 19164858 15968718 12540782 12705907 12594235 18071297 11421492 16081117 18713872 19085960 19923254 16177239 14550746 16781746 16227642 16109766 2444490 11529661 12958197 11461765 15619225 19416960 14986274 11743745 19370779 11287661 17562736 19739265 11834606 16485898 12392966 16393943 12153990
MESH:D056486 Drug-Induced Liver Injury polyphenols 12.5119370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.5120420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.511733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1715322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3717275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.1816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.746254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Valproic Acid 3.4719224547 14986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.338888407 18558336
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1115340226 12621046 16120746
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3115340226 16959395 18606429 16354765 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8416612254
MESH:D007249 Inflammation polyphenols 5.4216366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4212878042 12200463
MESH:D007410 Intestinal Diseases rebamipide 5.3911686837
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2912587719 15629191
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.1216705839
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1717596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 4.2819014921 11587558 19460945 12587719 19784758 16610002 16611625 12969438
MESH:D008107 Liver Diseases polyphenols 4.2816698588
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4017185352 16871587
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.567678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.072876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0712151625
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D008175 Lung Neoplasms bexarotene 2.5817849452
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.5819555203 11884234
MESH:D016410 Lymphoma, T-Cell, Cutaneous bexarotene 5.3611161223
MESH:D008325 Mammary Neoplasms, Experimental bexarotene 3.5115591091 19196722 19196723
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008881 Migraine Disorders Valproic Acid 3.3118803445 18765137
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2417596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.1018551238 7678174
MESH:D009376 Neoplasms, Hormone-Dependent bexarotene 5.0519196722
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.2316359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5916049721
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2711222880 11118676 11896295 11399792
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.2720603192
MESH:D019310 Pseudolymphoma Valproic Acid 4.8112752131 11422049
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0915737665 19110320
MESH:D012640 Seizures 2,6-dinitrotoluene 6.3218551238
MESH:D012640 Seizures Valproic Acid 6.323137016 17978042 14763951 15475178 1511512 11738929 11044598 16876388
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.838532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8316192470
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013272 Stomach Diseases rebamipide 5.5116184426
MESH:D013274 Stomach Neoplasms rebamipide 3.2115993841
MESH:D013705 Temporomandibular Joint Disorders polyphenols 5.5217997062
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3416049721
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5610091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
No data
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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