AutismKB 2.0

Annotation Detail for EPS8L2


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Basic Information Top
Gene Symbol:EPS8L2 ( EPS8R2,FLJ16738,FLJ21935,FLJ22171,MGC126530,MGC3088 )
Gene Full Name: EPS8-like 2
Band: 11p15.5
Quick LinksEntrez ID:64787; OMIM: NA; Uniprot ID:ES8L2_HUMAN; ENSEMBL ID: ENSG00000177106; HGNC ID: 21296
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 EPS8L2 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of EPS8L2 mRNAaffects expression 21346803
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of EPS8L2 mRNAincreases expression 20382639
D016572 Cyclosporine Cyclosporine results in decreased expression of EPS8L2 mRNAdecreases expression 20106945
D010634 Phenobarbital Phenobarbital results in decreased expression of EPS8L2 mRNAdecreases expression 19270015
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of EPS8L2 mRNAincreases expression 20106945
C025643 vinclozolin vinclozolin affects the expression of EPS8L2 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 9.656195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.6515322242 14514962 11752688
MESH:D018248 Adenoma, Liver Cell Phenobarbital 11.4417620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.4416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8619015723
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7816705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7816705839
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.7817173139 1701930 20935162 6705139 20007298
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 12.226135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.2220889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 12.2212371664
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.614080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Cyclosporine 3.1219486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015340226 12621046 16354765 15668235 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 10048152 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.6714966744
MESH:D003490 Cyanosis 2,4-dinitrotoluene 12.1218551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 12.1218551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.5721346803 18551238
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.5718551238 21346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004421 Dystonia Phenobarbital 4.311851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3515322242 18230668 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.473659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.3111558140 3922381
MESH:D004827 Epilepsy Phenobarbital 3.0120417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.796401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.617750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.413659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1320426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Cyclosporine 3.1419224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Cyclosporine 9.7012168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.7020067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.3316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.7416417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006529 Hepatomegaly Phenobarbital 9.6616109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.6612621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4915340226 18606429 8697196 16959395 16354765
MESH:D006973 Hypertension Cyclosporine 5.2410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.2418670907 18850075
MESH:D007248 Infertility, Male vinclozolin 3.2116467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007674 Kidney Diseases Cyclosporine 2.488314463 18776723 10903974
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.7616705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.7616705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.7612371664
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1316417039
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0321047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Phenobarbital 2.2219363144
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.917678174
MESH:D008113 Liver Neoplasms Phenobarbital 7.9119073162 19482888 8742319 19812893 15975961 21047994
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.9116984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.752876784 6135515 2876786
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 10.7517172636 2563599 1399818 6150874 18308698
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.7512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.8717484760
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.7018551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.707678174 18551238
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5319348381 18481113
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 9.7812819281 16049721
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.7816049721
MESH:D010018 Osteomalacia Phenobarbital 4.7617016548
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5716965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011230 Precancerous Conditions Cyclosporine 9.8112371664
MESH:D011230 Precancerous Conditions Phenobarbital 9.812563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.8411399792 11222880 11896295 11118676
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.8418042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.3318220299
MESH:D011472 Prostatitis vinclozolin 5.3318629315
MESH:D019310 Pseudolymphoma Phenobarbital 4.9412752131
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012640 Seizures 2,4-dinitrotoluene 10.8918551238
MESH:D012640 Seizures 2,6-dinitrotoluene 10.8918551238
MESH:D012640 Seizures Phenobarbital 10.893137016 16876388 11442880 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 5.226407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.261399818
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3216049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3216049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 13.3510091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 13.3510091137
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
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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