AutismKB 2.0

Annotation Detail for PTBP1


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Basic Information Top
Gene Symbol:PTBP1 ( HNRNP-I,HNRNPI,HNRPI,MGC10830,MGC8461,PTB,PTB-1,PTB-T,PTB2,PTB3,PTB4,pPTB )
Gene Full Name: polypyrimidine tract binding protein 1
Band: 19p13.3
Quick LinksEntrez ID:5725; OMIM: 600693; Uniprot ID:PTBP1_HUMAN; ENSEMBL ID: ENSG00000011304; HGNC ID: 9583
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
mRNA Processing
Gene Expression
No data
No data
Pathway IDPathway Name
500866mRNA Splicing - Major Pathway
500655Processing of Capped Intron-Containing Pre-mRNA
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of PTBP1 mRNAaffects expression 21346803
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of PTBP1 mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen affects the expression of PTBP1 mRNAaffects expression 17562736
C103505 AM 251 AM 251 results in decreased expression of PTBP1 mRNAdecreases expression 16500647
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 decreased expression of PTBP1 mRNAdecreases expression 20382639
20018196
19150397
D002509 Cephaloridine Cephaloridine results in increased expression of PTBP1 mRNAincreases expression 18172885
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PTBP1 mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of PTBP1 mRNAaffects cotreatment|affects expression 17602206
D005978 Glutathione Glutathione deficiency results in increased expression of PTBP1 mRNAincreases expression 15345336
C004648 testosterone enanthate testosterone enanthate affects the expression of PTBP1 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of PTBP1 proteinincreases expression 16548065
C025643 vinclozolin vinclozolin affects the expression of PTBP1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0014514962 11752688 15322242
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 6.873712494
MESH:D000236 Adenoma Diethylnitrosamine 6.876695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 10.5819052882 17162532 17620307 19061943 18056438 16434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.5816835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0511748828
MESH:D000799 Angioedema Acetaminophen 4.0210982225
MESH:D001008 Anxiety Disorders vinclozolin 3.7319015723
MESH:D001321 Autistic Disorder Acetaminophen 2.2318445737
MESH:D001321 Autistic Disorder Glutathione 2.2316917939 19056591 18929414 19267885
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.1911289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.9615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8315746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9617474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8916835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.6816705839
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.687296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.683084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 6.6817428255 18506893 18665156 19052882 10672840 21159647 19394651 20007298 20084675 18393292 17162532 16328049 19383236 19822196 17055752 19701751 16540662 16502159 18494052 19208518 16569478 17138121 19919837 17978847 20214788 17173139 19335982 17761372 18056438 16779866 20935162 18788625 19107877 20514400 18691550 19171122 3581430 3084413 20512989 20524982 16698587 16288022 18785209 16878318 10737359 20727157 19519916 18210153 16681979 19539802 11831363 20432363 16807293 20101231 18971187 16830150 16935385 19418558 18978308
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.727296757
MESH:D002294 Carcinoma, Squamous Cell Glutathione 3.4017015178
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4218670907 16120746 18850075
MESH:D002386 Cataract Acetaminophen 2.6410977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 16.656135515
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 16.657505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 16.6520889678
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 16.657505956 17174075 21159647 2727394
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.6519052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.6516835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.2319486331 9022650
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.148697196 15668235 15340226 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1617141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003456 Cryptorchidism vinclozolin 4.4714966744
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1618551238
MESH:D003550 Cystic Fibrosis Glutathione 4.5919747007
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 2.9414531868 18759878 11298694 12868966 8970840 8156756 11906362 2524372
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.613621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3020387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3017107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.3321346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.338291058 16192314 18289764 6679447 9022650 9653073 18692083 6482804 11289319 18648102 1440618 9328219 7440962
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.3312958197 16081117 15619225 17906064 16485898 18713872 10663392 18071297 16227642 14725611 11421492 12705907 11739529 15968718 17562736 19739265 19370779 19085960 19164858 11287661 11743745 16177239 16393943 16109766 12540782 16781746 11529661 12153990 12594235 10915739 17522070 11461765 14550746 19416960 14986274 19420014 10774834 12392966 11834606 19923254 2444490
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 12.3319107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.3320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.2719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8411462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.4812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.0816714409 18230668 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.129294722 10568697
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.2916302075
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.473581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.4720426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0911564622
MESH:D005234 Fatty Liver Diethylnitrosamine 3.2920387270 21071580
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.5911858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.196705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.0920067830
MESH:D005756 Gastritis Acetaminophen 3.8516983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.0916973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.4716417039
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.157505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.7710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3810048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4411000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.646705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0315340226 16120746 12621046
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 5.9217440010
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2215340226 16354765 8697196 16959395 18606429
MESH:D006930 Hyperalgesia Acetaminophen 2.7916870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.0815034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9418850075 18670907
MESH:D007248 Infertility, Male vinclozolin 3.1116467254
MESH:D007249 Inflammation Diethylnitrosamine 5.0718785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.0712878042 12200463
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.198074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4416580747
MESH:D007674 Kidney Diseases Acetaminophen 2.2612587719 15629191
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.6716705839
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.676582329
MESH:D007984 Leydig Cell Tumor vinclozolin 4.8916417039
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.8818522880 19638242 20032147 18665156 18407596
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.2615034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 3.9916610002 12969438 19014921 16611625 19460945 12587719 19784758 11587558
MESH:D008107 Liver Diseases Diethylnitrosamine 3.9917034775
MESH:D017114 Liver Failure, Acute Acetaminophen 3.3416871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.037678174
MESH:D008113 Liver Neoplasms Clofibric Acid 11.0317602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.0318754104 2862719 19254457 19833225 20452335 18977376 19426721 19255062 20101389 19256749 19427195 20583210 21278145 19090486 12771043 10737359 12112319 19850985 16942905 20118626 20137499 15885732 19294768 21167192 19812893 20501860 15175105 18978307 19690152 20492335 19499222 9163691 19638242 20405173 18644402 21071580 18648771 19996281 19073162 21047994 19551842 2422723 20434301 19642983
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.0316984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 14.666135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 14.663712494 1399818 6587162 598648
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 14.6616267830 19004024 18079962 19519916 19126423 18282651 18544905 16842330 19009564 17854601 18164116 17174075 18775883 17942915 19539802 18093689 18253720 21159647 18308698 2563599 3124819 9362446
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 14.6612151625
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.2820970405 21163286 6695378 20512841
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2819555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7119513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1112213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.0118551238 7678174
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 5.833581430
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 5.839029167 3581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3414600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 2.986679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.4918514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.4920387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.2920387270
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 9.2316049721
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 9.234026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.193988306
MESH:D010146 Pain Acetaminophen 7.4016870215
MESH:D010146 Pain AM 251 7.4018987195
MESH:D010190 Pancreatic Neoplasms AM 251 5.8816500647
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 5.8816540662
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.627296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.646228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.6918163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.652563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.0111118676 11399792 11896295 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.0119015723 18220299 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.0918220299
MESH:D011472 Prostatitis vinclozolin 5.0918629315
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.9618990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.463692021
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6118551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0916192470
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.0812697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.401399818 7505956 3712494 6582329 6587162
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 7.407505956
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.1416049721
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.148074119
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.4710091137
MESH:D014581 Urticaria Acetaminophen 3.0910982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.7712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4215886252
Pathway ID Pathway Name
REACT:71 Gene Expression
REACT:1675 mRNA Processing
Pharmacogenomics Knowledge Base Top
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  (e.g. CHD8)

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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