AutismKB 2.0

Annotation Detail for POU3F1


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Basic Information Top
Gene Symbol:POU3F1 ( OCT6,OTF6,SCIP )
Gene Full Name: POU class 3 homeobox 1
Band: 1p34.3
Quick LinksEntrez ID:5453; OMIM: 602479; Uniprot ID:PO3F1_HUMAN; ENSEMBL ID: ENSG00000185668; HGNC ID: 9214
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
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in decreased expression of POU3F1 mRNAdecreases expression 12958071
D000082 Acetaminophen Acetaminophen affects the expression of POU3F1 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of POU3F1 mRNAaffects expression 16483693
C015001 arsenite arsenite results in decreased expression of POU3F1 mRNAdecreases expression 18929588
C015001 arsenite TRP53 protein affects the reaction [arsenite results in decreased expression of POU3F1 mRNA]affects reaction|decreases expression 18929588
D019324 beta-Naphthoflavone [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of POU3F1 mRNAaffects cotreatment|increases expression 18164116
D002101 Cacodylic Acid Cacodylic Acid results in decreased expression of POU3F1 mRNAdecreases expression 17720352
D002220 Carbamazepine Carbamazepine results in increased expression of POU3F1 proteinincreases expression 12781989
C099555 CD 437 CD 437 results in decreased expression of POU3F1 mRNAdecreases expression 12958071
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with beta-Naphthoflavone] results in increased expression of POU3F1 mRNAaffects cotreatment|increases expression 18164116
D002117 Calcitriol Calcitriol results in increased expression of POU3F1 mRNAincreases expression 16002434
D010672 Phenytoin Phenytoin results in increased expression of POU3F1 proteinincreases expression 12781989
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Carbamazepine 9.968986270
MESH:D000014 Abnormalities, Drug-Induced Phenytoin 9.968986270 10563481 9118846 3425630 9677735 6195326
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000236 Adenoma beta-Naphthoflavone 7.1419389873
MESH:D000236 Adenoma Diethylnitrosamine 7.146695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 4.0917162532 19061943 17620307 19052882 16434500 18056438
MESH:D000799 Angioedema Acetaminophen 4.0610982225
MESH:D050197 Atherosclerosis Phenytoin 4.0015136057
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001714 Bipolar Disorder Carbamazepine 4.2020046352 17594078
MESH:D001943 Breast Neoplasms Cacodylic Acid 2.1317474063
MESH:D001943 Breast Neoplasms Calcitriol 2.1311237771
MESH:D001943 Breast Neoplasms Diethylnitrosamine 2.1317474063
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.913084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 2.9116830150 17173139 18691550 20514400 16681979 19919837 20084675 19539802 18056438 19418558 18785209 10672840 18978308 19701751 20007298 19208518 19519916 16288022 3581430 10737359 3084413 17138121 20101231 16878318 17428255 17055752 19107877 18506893 19383236 16935385 17162532 20214788 20512989 16328049 19335982 18971187 19394651 17978847 19822196 16569478 20524982 19171122 18393292 20727157 18210153 18665156 17761372 18788625 16540662 19052882 21159647 16502159 16807293 18494052 20935162 20432363 16698587 11831363 16779866
MESH:D002294 Carcinoma, Squamous Cell Calcitriol 2.6611237771
MESH:D002386 Cataract Acetaminophen 2.6610977129
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 2.9517174075 21159647 2727394 7505956
MESH:D002493 Central Nervous System Diseases Phenytoin 5.474080065
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 3.8119052882
OMIM:601042 CHOREOATHETOSIS/SPASTICITY, EPISODIC Phenytoin 6.0611748493
MESH:D002971 Cleft Lip Phenytoin 4.222227380
MESH:D002972 Cleft Palate Phenytoin 3.7910789828 6862529 1687470 2227380 6856622 3877104
MESH:D003103 Coloboma Phenytoin 5.299212184
MESH:D003110 Colonic Neoplasms arsenite 2.6015037631
MESH:D000013 Congenital Abnormalities Phenytoin 4.8210627286
MESH:D019465 Craniofacial Abnormalities Carbamazepine 3.509014606
MESH:D019465 Craniofacial Abnormalities Phenytoin 3.508986270 9212184 19952982
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 2.2220387270
OMIM:607208 DRAVET SYNDROME Carbamazepine 13.0011748493
OMIM:607208 DRAVET SYNDROME Phenytoin 13.0011748493
MESH:D003875 Drug Eruptions Phenytoin 5.6815024534
MESH:D004342 Drug Hypersensitivity Carbamazepine 4.4916538175 16538176 15057820 20216337
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5712153990 15968718 12594235 16781746 11461765 10915739 19739265 19085960 19420014 17906064 12540782 12958197 18713872 16393943 15619225 17562736 19923254 16177239 11743745 16081117 2444490 19370779 19416960 14725611 11529661 17522070 19164858 18071297 14550746 16485898 11739529 16109766 10663392 11834606 16227642 11421492 10774834 12392966 11287661 12705907 14986274
MESH:D056486 Drug-Induced Liver Injury Carbamazepine 6.5717465707
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.5719107877
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3219426721
MESH:D004362 Drug Toxicity Carbamazepine 4.5620216337
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Calcitriol 16.6815138306
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Carbamazepine 16.6817654737
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Phenytoin 16.6817654737
MESH:D004816 Epidermal Necrolysis, Toxic Carbamazepine 12.2716415921 19915237 18855540 16538176 20485159
MESH:D004816 Epidermal Necrolysis, Toxic Phenytoin 12.2720235791
MESH:D004820 Epidermolysis Bullosa Phenytoin 6.451399206 6251365
MESH:D004831 Epilepsies, Myoclonic Carbamazepine 5.3917275665
MESH:D004828 Epilepsies, Partial Carbamazepine 11.4916628512 17116037 15008574
MESH:D004828 Epilepsies, Partial Phenytoin 11.4911558140 17116037
MESH:D004827 Epilepsy Carbamazepine 7.6619700373 20417680 19620853 18234410 19439326 9014606 17178248 821787 7988514 17465707
MESH:D004827 Epilepsy Phenytoin 7.66821787 11434505 20417680
MESH:D017029 Epilepsy, Complex Partial Carbamazepine 12.677750514
MESH:D017029 Epilepsy, Complex Partial Phenytoin 12.677750514
MESH:D004830 Epilepsy, Tonic-Clonic Carbamazepine 11.9115276670 3659116
MESH:D004830 Epilepsy, Tonic-Clonic Phenytoin 11.913659116
MESH:D004916 Erythromelalgia Carbamazepine 5.9219549232
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.3316302075
MESH:D005076 Exanthema Carbamazepine 5.6620485159
MESH:D005234 Fatty Liver arsenite 8.5218296743
MESH:D005234 Fatty Liver Diethylnitrosamine 8.5220387270 21071580
MESH:D005313 Fetal Death Phenytoin 5.2710627286
MESH:D005355 Fibrosis arsenite 4.2418296743
MESH:D005756 Gastritis Acetaminophen 3.8916983495
MESH:D005885 Gingival Hyperplasia Phenytoin 5.869029455
MESH:D019214 Gingival Overgrowth Phenytoin 6.4514659971 16390469
MESH:D006930 Hyperalgesia Acetaminophen 2.8116870215
MESH:D020138 Hyperhomocysteinemia Carbamazepine 10.3310459572
MESH:D020138 Hyperhomocysteinemia Phenytoin 10.3310459572
MESH:D006965 Hyperplasia Carbamazepine 5.3918773962
MESH:D007249 Inflammation Diethylnitrosamine 2.4418785209
MESH:D007674 Kidney Diseases Acetaminophen 2.2715629191 12587719
MESH:D008103 Liver Cirrhosis arsenite 7.0718296743
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 7.0718407596 20032147 18665156 18522880 19638242
MESH:D008107 Liver Diseases Acetaminophen 6.8211587558 19784758 12587719 12969438 19014921 19460945 16610002 16611625
MESH:D008107 Liver Diseases Diethylnitrosamine 6.8217034775
MESH:D008107 Liver Diseases Phenytoin 6.8214986274
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3717185352 16871587
MESH:D008113 Liver Neoplasms beta-Naphthoflavone 4.9319389873 21295105
MESH:D008113 Liver Neoplasms Diethylnitrosamine 4.9319294768 19850985 19499222 19427195 19551842 19996281 20137499 15885732 19638242 16942905 12771043 19255062 18754104 19256749 12112319 19833225 21278145 20405173 15175105 20492335 18977376 20501860 19254457 19812893 19642983 20118626 2422723 18978307 2862719 20583210 19690152 21167192 21071580 20452335 20101389 10737359 19090486 9163691 19426721 21047994 18648771 18644402 20434301 19073162
MESH:D008114 Liver Neoplasms, Experimental beta-Naphthoflavone 6.4118164116
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.4119009564 3124819 9362446 18164116 19519916 18544905 16267830 18253720 19539802 16842330 2563599 19004024 18282651 17174075 19126423 18775883 17854601 21159647 18079962 17942915 18308698 18093689
MESH:D008175 Lung Neoplasms arsenite 2.7016809336
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.706695378 20970405 20512841 21163286
MESH:D008180 Lupus Erythematosus, Systemic Carbamazepine 3.6016628512
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7419513568
MESH:D008607 Mental Retardation Carbamazepine 6.679014606
MESH:D008607 Mental Retardation Phenytoin 6.679212184
MESH:D020191 Myoclonic Epilepsies, Progressive Phenytoin 5.7217484760
MESH:D009224 Myotonia Congenita Carbamazepine 13.1420399394
MESH:D009224 Myotonia Congenita Phenytoin 13.141896199
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.613581430 9029167
MESH:D009389 Neovascularization, Pathologic arsenite 4.6115738583
MESH:D009421 Nervous System Malformations Carbamazepine 5.0716990009
MESH:D009436 Neural Tube Defects Phenytoin 4.219118846
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.5818514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.5820387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.3320387270
MESH:D010018 Osteomalacia Carbamazepine 13.1417016548
MESH:D010018 Osteomalacia Phenytoin 13.1417016548
MESH:D010051 Ovarian Neoplasms CD 437 3.3517474084
MESH:D010146 Pain Acetaminophen 12.1916870215
MESH:D010146 Pain Carbamazepine 12.1915215642
MESH:D010146 Pain Phenytoin 12.1915215642
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4616540662
MESH:D010267 Parapsoriasis Carbamazepine 5.8816538176
OMIM:167400 PAROXYSMAL EXTREME PAIN DISORDER Carbamazepine 6.1217145499 17679678
MESH:D017689 Polydactyly Phenytoin 5.179212184
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.682563599
MESH:D011248 Pregnancy Complications Carbamazepine 5.339014606
MESH:D011297 Prenatal Exposure Delayed Effects Carbamazepine 5.089014606
MESH:D011470 Prostatic Hyperplasia Calcitriol 4.9715572423
MESH:D011471 Prostatic Neoplasms Calcitriol 3.5212479363 15754350 16644109 18247401 16289102
MESH:D019310 Pseudolymphoma Carbamazepine 13.7012752131 9591791
MESH:D019310 Pseudolymphoma Phenytoin 13.7012752131 8603615 1419762
MESH:D012640 Seizures Carbamazepine 7.089844417 16938433 16876388 19414003 9046859 15946322 16180713
MESH:D012640 Seizures Phenytoin 7.0819919933 15946322 16876388 3137016 9844417 11044598 10029267 3691417
MESH:D012893 Sleep Disorders Carbamazepine 5.3119414003
MESH:D013262 Stevens-Johnson Syndrome Carbamazepine 12.1618855540 16538176 20485159 19915237 16415921 19694795 15057820
MESH:D013262 Stevens-Johnson Syndrome Phenytoin 12.1620235791
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.097505956
MESH:D001749 Urinary Bladder Neoplasms Cacodylic Acid 6.1115537745
MESH:D001749 Urinary Bladder Neoplasms CD 437 6.1116720286
MESH:D014581 Urticaria Acetaminophen 3.1210982225
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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