AutismKB 2.0

Annotation Detail for CTDP1


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Basic Information Top
Gene Symbol:CTDP1 ( CCFDN,FCP1 )
Gene Full Name: CTD (carboxy-terminal domain, RNA polymerase II, polypeptide A) phosphatase, subunit 1
Band: 18q23
Quick LinksEntrez ID:9150; OMIM: 604927; Uniprot ID:CTDP1_HUMAN; ENSEMBL ID: ENSG00000060069; HGNC ID: 2498
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Elongation arrest and recovery
Pausing and recovery of elongation
Transcription
Gene Expression
HIV Infection
No data
No data
Pathway IDPathway Name
500566RNA Polymerase II Transcription Elongation
500567Formation of the Early Elongation Complex
500568Formation of RNA Pol II elongation complex
500949RNA Polymerase II Pre-transcription Events
501028HIV-1 elongation arrest and recovery
500917Tat-mediated elongation of the HIV-1 transcript
500957Tat-mediated HIV-1 elongation arrest and recovery
500956Elongation arrest and recovery
500924RNA Polymerase II Transcription
500922Pausing and recovery of elongation
500742Formation of HIV-1 elongation complex in the absence of HIV-1 Tat
500740Formation of the HIV-1 Early Elongation Complex
500741Formation of HIV-1 elongation complex containing HIV-1 Tat
500735Transcription of the HIV genome
500990Pausing and recovery of Tat-mediated HIV-1 elongation
500871Pausing and recovery of HIV-1 elongation
Related Diseases/Disorders Top
No data
No data
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Desease Name
Congenital cataracts, facial dysmorphism, and neuropathy
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of CTDP1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of CTDP1 mRNAaffects expression 17562736
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of CTDP1 mRNAdecreases expression 17484886
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of CTDP1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CTDP1 mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of CTDP1 mRNAaffects binding|increases activity|increases expression 19710929
C004648 testosterone enanthate testosterone enanthate affects the expression of CTDP1 mRNAaffects expression 17440010
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CTDP1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.2411752688 14514962 15322242
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.4218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.2616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2616835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D000799 Angioedema Acetaminophen 4.2910982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8215885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.7319483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.7312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.1415700767 16011737 18705752 16124888 15721981 16050911 15673190 16097048 16227642 10355542 3786805 16192424
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7216705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.723084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 4.7218788625
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.4217333356 15861022 11677210 16919318 17110522 16105132 17681005
MESH:D002779 Cholestasis pirinixic acid 8.4219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2016354765 8697196 15668235 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3114669216 17141729
OMIM:604168 CONGENITAL CATARACTS, FACIAL DYSMORPHISM, AND NEUROPATHY marker/mechanism 16194727
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.3718551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5318249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.5221346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.5211834606 12705907 16227642 12540782 15968718 19416960 10915739 14725611 15619225 11743745 14986274 11461765 19923254 14550746 17906064 16781746 11421492 11739529 12958197 18071297 16109766 11529661 19085960 12392966 19739265 16393943 11287661 19370779 16081117 17562736 12594235 18713872 2444490 10663392 16177239 16485898 17522070 19164858 12153990 10774834 19420014
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.526884620 11566570 21278145 7179309 10092053 3732212 15968718 6623471 4309450 15998439 10915739 15027814 16227642 7440962 9327722 7120509 17522070 3786805 19085960 16177239 2869522 19336974
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.5220420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema pirinixic acid 7.4812083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.4811000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5212538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.299294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.7417595544 61145 16239168 12795759 15959796 19224547 16045604 12631006
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.7415345470
MESH:D005234 Fatty Liver pirinixic acid 14.7420131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005355 Fibrosis Carbon Tetrachloride 9.8218705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.8220067830
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4611294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6920558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.9219900420 19110552
MESH:D006529 Hepatomegaly pirinixic acid 9.4819772884 16221962 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.4812621046 15340226 16120746
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.1917440010
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4918606429 15340226 16354765 8697196 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.9316899240
MESH:D006943 Hyperglycemia pirinixic acid 3.4520558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.4515338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6617937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3415629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2116705839
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9417174718 11408273 16221502 16943688 17334410 11903743 21278145 17157831 16239168
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.5312958196 17708605 18339082 12445418 17922224 15673190 15893842 15370692 20821823 14512876 16116963 17823541 17900296 12666154 18317297 14716496 17481882 18210741 15650968 16248980 18395095 15730626 18263696 15925388 14724832 14620537 18166357 18006644 18472332 12389079 12632512 18277467 14716833 17698563 18420326 16136751 17869086 15818738 15931870 17761835 15959796 12632514 18187930 12649538 12586293 18054572 17944888 15338365 18481824 17805973 16033810 18472094 17565644 16015684 15052691 17557913 14748882 18251166 16638106 18376398 15123356 12445421 11481614 18429990 16011737 13678700 15362042 18205269 12609069 10355542 16192424 12667390 18705752 16027843 17766677 17714472 17631135 17640975 12741479 15876570 17976157 12546737 16097048 18156304 15057751 18395914 15996030 18418968 17721639 18279442 12898905 18412020 17525996
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5312878042
MESH:D008107 Liver Diseases Acetaminophen 4.0919460945 19784758 19014921 12969438 12587719 16611625 16610002 11587558
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0916964402 15830285 17285989 16246199 15720792
MESH:D017093 Liver Failure Carbon Tetrachloride 4.5215123358
MESH:D017114 Liver Failure, Acute Acetaminophen 10.3116871587 17185352
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 10.3114706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.8619294768
MESH:D008113 Liver Neoplasms pirinixic acid 7.8620007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8616984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.3012014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.3012151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D009135 Muscular Diseases pirinixic acid 3.8616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2419151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1616411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.2518551238
MESH:D009369 Neoplasms pirinixic acid 2.0617405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.6912819281 16049721
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911896295 11222880 11118676 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 3.7115861022 16919318
MESH:D015427 Reperfusion Injury pirinixic acid 2.5019058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7118551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3816709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 2.3716049721
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7110091137
MESH:D014581 Urticaria Acetaminophen 3.2810982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6314692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8214671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
Pathway ID Pathway Name
REACT:1892 Elongation arrest and recovery
REACT:71 Gene Expression
REACT:6185 HIV Infection
REACT:769 Pausing and recovery of elongation
REACT:1788 Transcription
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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