AutismKB 2.0

Annotation Detail for REPS1


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Basic Information Top
Gene Symbol:REPS1 ( RALBP1 )
Gene Full Name: RALBP1 associated Eps domain containing 1
Band: 6q24.1
Quick LinksEntrez ID:85021; OMIM: NA; Uniprot ID:REPS1_HUMAN; ENSEMBL ID: ENSG00000135597; HGNC ID: 15578
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
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of REPS1 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of REPS1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of REPS1 mRNAaffects expression 17562736
D005472 Fluorouracil REPS1 protein affects the susceptibility to [Fluorouracil co-treated with irinotecan analog]affects cotreatment|affects response to substance 18927307
C051890 irinotecan irinotecan analog results in decreased expression of REPS1 mRNAdecreases expression 18927307
C051890 irinotecan REPS1 protein affects the susceptibility to [Fluorouracil co-treated with irinotecan analog]affects cotreatment|affects response to substance 18927307
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of REPS1 mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of REPS1 mRNAincreases expression 19482888
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of REPS1 mRNAaffects binding|increases activity|increases expression 19710929
D012402 Rotenone Rotenone results in decreased expression of REPS1 mRNAdecreases expression 19013527
D018038 Sodium Selenite Sodium Selenite results in increased expression of REPS1 mRNAincreases expression 18175754
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.726195326
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Fluorouracil 2.4717638652
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.0917620307
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0916434500
MESH:D000740 Anemia Fluorouracil 3.9016511603 15504547 17963324
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3519483382
MESH:D001943 Breast Neoplasms Fluorouracil 2.4515136595 16595493 19217205 18357371 18608205 16557594 16110121
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9916051944
MESH:D002277 Carcinoma Fluorouracil 3.7317121937
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 9.1716705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 9.1716705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 9.173084413
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 9.1717045692 16799960 16332177 18930000 17088986 17971768
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 9.171701930 17173139 6705139 20007298 20935162
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1018695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5417066447 16757204 18986760 16280240
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 2.906135515
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.514080065
MESH:D002779 Cholestasis pirinixic acid 2.9719176532
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0115894690
MESH:D003110 Colonic Neoplasms Fluorouracil 4.0717016597 15001691 17018589 17725105 17169374 18772588 17172411 16510598 17287894 16340194
MESH:D003110 Colonic Neoplasms irinotecan 4.0717725105 17287894
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.7718383874 16391804 14970324 18448328 15148649 18802399 18509181 17401013 17594712 16524972 17016601 17695437 15289873 20501625 17255274 16282729 18949393 16331619 17454858 16303861 18288408 17094418
MESH:D015179 Colorectal Neoplasms irinotecan 2.7717159606 16303861 16391804 17454858 15273666 18259882 18509181
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.7718551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.7718551238
MESH:D007644 Darier Disease Fluorouracil 5.0816733453
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9616285004
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.4218551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.4218551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.4214725611 19164858 16781746 19370779 11834606 17562736 16109766 12153990 16177239 16393943 16227642 12594235 12392966 11739529 11421492 17906064 15619225 19416960 16081117 18713872 17522070 14550746 15968718 2444490 14986274 19420014 10774834 10663392 12705907 19923254 19085960 18071297 12958197 10915739 11461765 19739265 11529661 16485898 12540782 11287661 11743745
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.4215131321
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004421 Dystonia Phenobarbital 4.221851702
MESH:D004487 Edema pirinixic acid 2.6812083418
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.373659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.1911558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.9820417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.726401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.303659116
MESH:D004938 Esophageal Neoplasms Fluorouracil 2.4916785472 16481741 15173087 16337965 17638652
MESH:D005234 Fatty Liver pirinixic acid 2.9720131406 19236843
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D005910 Glioma Fluorouracil 2.9416145905
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5215102660 18337622 15162350
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006529 Hepatomegaly Phenobarbital 9.3616109766
MESH:D006529 Hepatomegaly pirinixic acid 9.3619772884 18467677 16221962 19176532
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D007333 Insulin Resistance pirinixic acid 7.7416306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.7414714311
MESH:D007674 Kidney Diseases Acetaminophen 2.3015629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.4716705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.4716705839
MESH:D007680 Kidney Neoplasms Fluorouracil 13.4716985049
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0021047994
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 4.0811587558 12969438 19784758 19460945 16610002 19014921 12587719 16611625
MESH:D008107 Liver Diseases Phenobarbital 4.0819363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4316871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.287678174
MESH:D008113 Liver Neoplasms Fluorouracil 11.2815113037 16603448 18383874 17045692
MESH:D008113 Liver Neoplasms Phenobarbital 11.2815975961 8742319 21047994 19812893 19073162 19482888
MESH:D008113 Liver Neoplasms pirinixic acid 11.2820007298 16377806 15890375
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.356135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.352563599 18308698 6150874 1399818 17172636
MESH:D008175 Lung Neoplasms Fluorouracil 2.0015246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0815086387
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2814737004
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D009062 Mouth Neoplasms Fluorouracil 3.7916757204 18986760
MESH:D052016 Mucositis irinotecan 5.2917159606
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.7617484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.3218551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.3218551238 7678174
MESH:D009362 Neoplasm Metastasis irinotecan 3.2418259882
MESH:D009369 Neoplasms Fluorouracil 5.2916928823 18239605 18600527
MESH:D009369 Neoplasms pirinixic acid 5.2917405874
MESH:D009410 Nerve Degeneration Rotenone 4.0418619942 17356569 15790535
MESH:D009447 Neuroblastoma irinotecan 3.578761367
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D017599 Neuroectodermal Tumors irinotecan 5.018761367
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5716436463
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.5416049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.5416049721
MESH:D010018 Osteomalacia Phenobarbital 4.6517016548
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.5616929163 19003803 15113037 16500647
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.5616965848
MESH:D010300 Parkinson Disease Rotenone 3.0419232380 18191903 18619942 19114014 16412576 15451049 16140633 11445065 11535288
MESH:D020734 Parkinsonian Disorders Rotenone 4.2715927086 18197244 15795934 15574749
MESH:D011230 Precancerous Conditions Phenobarbital 3.802563599
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3418626508 19082440
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3418760546
MESH:D019310 Pseudolymphoma Phenobarbital 4.8112752131
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1918286688 18722050 15538739 16160472
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D012640 Seizures 2,4-dinitrotoluene 10.6118551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.6118551238
MESH:D012640 Seizures Phenobarbital 10.613137016 16876388 4039156 11442880
MESH:D003294 Seizures, Febrile Phenobarbital 5.116407741
MESH:D013274 Stomach Neoplasms Fluorouracil 2.7616951190 17172411 19015929 17522103 18396642 16424979 15786421 17498489 19084572 18567086
MESH:D013274 Stomach Neoplasms irinotecan 2.7615723263
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.211399818
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1816280240
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.2416049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.2416049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.9610091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.9610091137
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0716803524
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


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