AutismKB 2.0

Annotation Detail for POLR2K


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Basic Information Top
Gene Symbol:POLR2K ( ABC10-alpha,RPABC4,RPB10alpha,RPB12,RPB7.0,hRPB7.0,hsRPB10a )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide K, 7.0kDa
Band: 8q22.2
Quick LinksEntrez ID:5440; OMIM: 606033; Uniprot ID:RPAB4_HUMAN; ENSEMBL ID: ENSG00000147669; HGNC ID: 9198
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00240Pyrimidine metabolism
hsa03020RNA polymerase
hsa00230Purine metabolism
hsa05016Huntington's disease
hsa01100Metabolic pathways
Pathway IDPathway Name
Elongation arrest and recovery
Regulatory RNA pathways
Pausing and recovery of elongation
Transcription
DNA Repair
mRNA Processing
Gene Expression
HIV Infection
No data
Pathway IDPathway Name
P00022General transcription by RNA polymerase I
Pathway IDPathway Name
500585RNA Polymerase III Transcription Termination
500580RNA Polymerase III Transcription Initiation
500581RNA Polymerase III Transcription Initiation From Type 1 Promoter
500582RNA Polymerase III Transcription Initiation From Type 2 Promoter
500583RNA Polymerase III Transcription Initiation From Type 3 Promoter
500949RNA Polymerase II Pre-transcription Events
500578RNA Polymerase III Transcription
500575RNA Polymerase I Transcription Initiation
500579RNA Polymerase III Abortive And Retractive Initiation
500366MicroRNA (miRNA) Biogenesis
500065Formation of transcription-coupled NER (TC-NER) repair complex
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of POLR2K mRNAdecreases expression 18648102
D000082 Acetaminophen Acetaminophen results in increased expression of POLR2K mRNAincreases expression 12540782
D000082 Acetaminophen O(2)-vinyl-1-(pyrrolidin-1-yl)diazen-1-ium-1,2-diolate inhibits the reaction [Acetaminophen results in increased expression of POLR2K mRNA]decreases reaction|increases expression 12540782
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 increased expression of POLR2K mRNAincreases expression 19150397
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of POLR2K mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLR2K mRNAaffects cotreatment|increases expression 17942748
C107010 O(2)-vinyl-1-(pyrrolidin-1-yl)diazen-1-ium-1,2-diolate O(2)-vinyl-1-(pyrrolidin-1-yl)diazen-1-ium-1,2-diolate inhibits the reaction [Acetaminophen results in increased expression of POLR2K mRNA]decreases reaction|increases expression 12540782
D012643 Selenium Selenium results in decreased expression of POLR2K mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLR2K 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 15322242 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3817505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.903712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
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:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.461440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 2.923581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.923084413
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.787296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5018850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7310977129
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.267505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.2620889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.549022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.5417681005 17110522 16105132 15861022 11677210 17333356 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015668235 8697196 16354765 12621046 15340226
MESH:D003092 Colitis Selenium 4.1417936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.158970840 12868966 11906362 18759878 14531868 8156756 2524372 11298694
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.793621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 12.7918692083 7440962 18289764 6679447 9653073 8291058 18648102 6482804 9022650 11289319 16192314 9328219 1440618
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.7911743745 19739265 16393943 16177239 2444490 17906064 15619225 14550746 18713872 14986274 17522070 11529661 11421492 19085960 10663392 12153990 10774834 16081117 19923254 19416960 19420014 11287661 11739529 12540782 12392966 10915739 19164858 11834606 16485898 16227642 17562736 14725611 19370779 16781746 12594235 16109766 15968718 18071297 12958197 11461765 12705907
MESH:D056486 Drug-Induced Liver Injury O(2)-vinyl-1-(pyrrolidin-1-yl)diazen-1-ium-1,2-diolate 12.7912540782
MESH:D056486 Drug-Induced Liver Injury Selenium 12.7915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.7920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.5419426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 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:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.583581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5820426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.0915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.466705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3120067830
MESH:D005756 Gastritis Acetaminophen 4.1216983495
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.347505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006333 Heart Failure Selenium 3.2317162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.846705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2516120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4916354765 8697196 16959395 18606429 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.9216870215
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9918850075 18670907
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 1.9812200463 12878042
MESH:D007251 Influenza, Human Selenium 4.6416624496
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.468074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3415629191 12587719
MESH:D007676 Kidney Failure, Chronic Selenium 4.1716518626
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.206582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3515034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6819014921 16610002 19784758 16611625 19460945 12587719 12969438 11587558
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5017185352 16871587
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8016984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.27598648 6587162 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9215318939
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9319513568
MESH:D008654 Mesothelioma Selenium 2.8815107826
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2412213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.563581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.086679447
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1018514411
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.684026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.463988306
MESH:D010146 Pain Acetaminophen 2.6216870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9911578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.847296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.916228378
MESH:D010954 Plasmacytoma Selenium 5.3315087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5911896295 11222880 11399792 11118676
MESH:D011537 Pruritus Ethinyl Estradiol 3.7116919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.583692021
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:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.091399818 6587162 7505956 6582329 3712494
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.368074119
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
KEGG:04623 Cytosolic DNA-sensing pathway
REACT:216 DNA Repair
REACT:1892 Elongation arrest and recovery
REACT:71 Gene Expression
REACT:6185 HIV Infection
KEGG:05016 Huntington's disease
KEGG:01100 Metabolic pathways
REACT:1675 mRNA Processing
REACT:769 Pausing and recovery of elongation
KEGG:00230 Purine metabolism
KEGG:00240 Pyrimidine metabolism
REACT:12472 Regulatory RNA pathways
KEGG:03020 RNA polymerase
REACT:1788 Transcription
Pharmacogenomics Knowledge Base Top
Drug Bank Top

Simple Query:


  (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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