AutismKB 2.0

Annotation Detail for TBCEL


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Basic Information Top
Gene Symbol:TBCEL ( El,FLJ14177,LRRC35,MGC10233 )
Gene Full Name: tubulin folding cofactor E-like
Band: 11q23.3
Quick LinksEntrez ID:219899; OMIM: 610451; Uniprot ID:TBCEL_HUMAN; ENSEMBL ID: ENSG00000154114; HGNC ID: 28115
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
C014211 2,3,7,8-tetrachlorodibenzofuran 2,3,7,8-tetrachlorodibenzofuran affects the expression of TBCEL mRNAaffects expression 18343893
D000082 Acetaminophen Acetaminophen affects the expression of TBCEL mRNAaffects expression 17562736
D010634 Phenobarbital NR1I3 protein affects the reaction [Phenobarbital results in increased expression of TBCEL mRNA]affects reaction|increases expression 19482888
D010634 Phenobarbital Phenobarbital results in increased expression of TBCEL mRNAincreases expression 19482888
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin affects the expression of TBCEL mRNAaffects expression 18343893
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin binds to AHR protein] which results in increased expression of TBCEL mRNAaffects binding|increases expression 16214954
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 10.486195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 10.4815322242 11752688 14514962
MESH:D018248 Adenoma, Liver Cell Phenobarbital 12.2817620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.2816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.023084413
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 3.0220935162 1701930 6705139 17173139 20007298
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.814080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2416354765 15340226 15668235 12621046 8697196
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8619164858 11743745 17562736 11529661 16177239 11739529 12392966 19923254 12594235 17906064 14986274 12705907 15619225 2444490 16081117 11287661 16393943 10915739 18071297 12540782 11461765 12153990 19085960 10663392 14725611 14550746 16781746 18713872 16485898 15968718 19420014 16109766 19416960 10774834 19370779 11834606 16227642 19739265 11421492 17522070 12958197
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8620420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004421 Dystonia Phenobarbital 4.471851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.673659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.593922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0620417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.916401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.817750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.653659116
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital 2,3,7,8-tetrachlorodibenzofuran 7.5811294989
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.5810048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Phenobarbital 10.3816109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.3816120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7716354765 15340226 16959395 18606429 8697196
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.4015629191 12587719
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0821047994
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 4.2012969438 16610002 19014921 12587719 19460945 19784758 16611625 11587558
MESH:D008107 Liver Diseases Phenobarbital 4.2019363144
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6317185352 16871587
MESH:D008113 Liver Neoplasms Phenobarbital 4.8319812893 19482888 15975961 8742319 21047994 19073162
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8316984957
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 6.5617172636 18308698 2563599 1399818 6150874
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5612151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.1117484760
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D010018 Osteomalacia Phenobarbital 5.0017016548
MESH:D010146 Pain Acetaminophen 2.7316870215
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.6016965848
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.992563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211399792 11896295 11222880 11118676
MESH:D019310 Pseudolymphoma Phenobarbital 5.2212752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012640 Seizures Phenobarbital 2.954039156 3137016 11442880 16876388
MESH:D003294 Seizures, Febrile Phenobarbital 5.456407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D013964 Thyroid Neoplasms Phenobarbital 3.361399818
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
Pathway ID Pathway Name
REACT:24972 Circadian Clock (mouse)
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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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