AutismKB 2.0

Annotation Detail for TSEN54


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Basic Information Top
Gene Symbol:TSEN54 ( FLJ37147,PCH2A,PCH4,SEN54L,sen54 )
Gene Full Name: tRNA splicing endonuclease 54 homolog (S. cerevisiae)
Band: 17q25.1
Quick LinksEntrez ID:283989; OMIM: 608755; Uniprot ID:SEN54_HUMAN; ENSEMBL ID: ENSG00000182173; HGNC ID: 27561
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Pontocerebellar hypoplasia type 4
Pontocerebellar hypoplasia type 2A
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of TSEN54 mRNAaffects expression 17562736
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of TSEN54 mRNAaffects cotreatment|increases expression 17183730
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of TSEN54 mRNAaffects binding|increases activity|increases expression 19710929
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of TSEN54 mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3519490988
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.1116434500
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D000799 Angioedema Acetaminophen 4.5710982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8617688650 18177632 17507914 18985861 17157402 19232924 18316065 18396377 15238991 16609825 18775368 20603192 18940202 18558336 19460635
MESH:D001714 Bipolar Disorder Valproic Acid 3.2420046352 17594078
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5719483382
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D002386 Cataract Acetaminophen 2.7910977129
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D002779 Cholestasis pirinixic acid 3.1219176532
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.918888407 16575769 17688650
MESH:D003680 Deglutition Disorders marker/mechanism 18711368
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 4.1019923254 14725611 12392966 19416960 17522070 11834606 2444490 12705907 19420014 16227642 17562736 19085960 11421492 17906064 12594235 18071297 10774834 16177239 19370779 16781746 16393943 11461765 16485898 11529661 19164858 12958197 15619225 11743745 12153990 10663392 19739265 11287661 12540782 16109766 10915739 11739529 14986274 16081117 14550746 15968718 18713872
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.1019641884 1733752
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.8219426721
MESH:D004421 Dystonia Valproic Acid 4.511851702
MESH:D004487 Edema pirinixic acid 2.9012083418
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.7117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.6416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.966254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.867750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.693659116
MESH:D005234 Fatty Liver pirinixic acid 9.1720131406 19236843
MESH:D005234 Fatty Liver Valproic Acid 9.1719224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.6418558336 8888407
MESH:D005756 Gastritis Acetaminophen 4.4016983495
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006529 Hepatomegaly pirinixic acid 3.5516221962 18467677 19176532 19772884
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D006930 Hyperalgesia Acetaminophen 3.0216870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 5.1916612254
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007674 Kidney Diseases Acetaminophen 2.4012587719 15629191
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2016294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008107 Liver Diseases Acetaminophen 1.7016611625 19014921 16610002 12587719 11587558 19784758 19460945 12969438
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6316871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 1.9320007298 16377806 15890375
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008546 Melanoma, Experimental Acetaminophen 4.1319513568
MESH:D008607 Mental Retardation marker/mechanism 18711368
MESH:D008831 Microcephaly marker/mechanism 18711368
MESH:D008881 Migraine Disorders Valproic Acid 3.4718765137 18803445
MESH:D009069 Movement Disorders marker/mechanism 18711368
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.458888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3517596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009436 Neural Tube Defects Valproic Acid 3.378888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2118514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010146 Pain Acetaminophen 2.7316870215
OMIM:277470 PONTOCEREBELLAR HYPOPLASIA, TYPE 2A marker/mechanism
OMIM:225753 PONTOCEREBELLAR HYPOPLASIA, TYPE 4 marker/mechanism
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D019310 Pseudolymphoma Valproic Acid 5.2612752131 11422049
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1015737665 19110320
MESH:D012640 Seizures Valproic Acid 2.9914763951 11044598 15475178 16876388 1511512 11738929 3137016 17978042
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D014178 Translocation, Genetic Valproic Acid 5.9617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.153119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.208888407
MESH:D014581 Urticaria Acetaminophen 3.4410982225
MESH:D014786 Vision Disorders marker/mechanism 18711368
No data
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Syndromic Genes

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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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