AutismKB 2.0

Annotation Detail for POLR3K


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Basic Information Top
Gene Symbol:POLR3K ( C11,C11-RNP3,RPC10,RPC11,RPC12.5,hRPC11 )
Gene Full Name: polymerase (RNA) III (DNA directed) polypeptide K, 12.3 kDa
Band: 16p13.3
Quick LinksEntrez ID:51728; OMIM: 606007; Uniprot ID:RPC10_HUMAN; ENSEMBL ID: ENSG00000161980; HGNC ID: 14121
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00240Pyrimidine metabolism
hsa03020RNA polymerase
hsa04623Cytosolic DNA-sensing pathway
hsa00230Purine metabolism
hsa01100Metabolic pathways
No data
No data
No data
No data
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 POLR3K mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of POLR3K mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of POLR3K mRNAaffects expression 16483693
C006780 bisphenol A bisphenol A results in increased expression of POLR3K mRNAincreases expression 20678512
D016572 Cyclosporine Cyclosporine results in decreased expression of POLR3K mRNAdecreases expression 20106945
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of POLR3K mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLR3K mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid pirinixic acid results in decreased expression of POLR3K mRNAdecreases expression 18445702
D011374 Progesterone Progesterone results in decreased expression of POLR3K mRNAdecreases expression 18037150
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLR3K mRNAaffects cotreatment|increases expression 17942748
D014212 Tretinoin Tretinoin results in increased expression of POLR3K mRNAincreases expression 17218384
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0811752688 15322242 14514962
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.7116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000505 Alopecia Tretinoin 3.7515955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.5415885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.5416412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.3016292516
MESH:D001249 Asthma Tretinoin 2.3916456186
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001471 Barrett Esophagus Tretinoin 4.6016935849
MESH:D001778 Blood Coagulation Disorders pirinixic acid 16.3019483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 16.3012125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 16.3016206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001862 Bone Resorption bisphenol A 4.0311985600
MESH:D020201 Brain Hemorrhage, Traumatic Progesterone 5.6017868700
MESH:D001930 Brain Injuries Progesterone 4.4715380490 15845082 15665606
MESH:D001943 Breast Neoplasms bisphenol A 1.9817123778
MESH:D001943 Breast Neoplasms Progesterone 1.9815562024 16175315 17614352
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9820435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9816873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.8316813970
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.4216168501
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.6616705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.663084413
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.661917145
MESH:D002278 Carcinoma in Situ bisphenol A 5.2317123778
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 2.3316096774 16051514
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 7.5410977129
MESH:D002386 Cataract Tretinoin 7.5417460283
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.966135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9612371664
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.8316129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis Cyclosporine 14.0919486331
MESH:D002779 Cholestasis Ethinyl Estradiol 14.0917110522 16105132 11677210 17681005 15861022 16919318 17333356
MESH:D002779 Cholestasis pirinixic acid 14.0919176532
MESH:D002822 Choriocarcinoma Tretinoin 5.4216461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 5.9812621046 15340226 15668235 8697196 16354765
MESH:D002972 Cleft Palate Tretinoin 5.989407595
MESH:D003092 Colitis Tretinoin 3.9217035595
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2117141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4920055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 2.499142499 16925845 10589399 17551590 14991402 8800419 9211117 9224671 9125849 9664655
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2318551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D003929 Diabetic Neuropathies Progesterone 4.7117187935
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.3821346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.3819370779 19416960 10774834 12958197 14550746 12705907 17522070 11287661 19923254 18071297 2444490 11461765 15619225 10915739 19164858 15968718 19420014 19085960 12153990 16177239 12594235 10663392 11529661 18713872 12540782 16109766 11421492 16081117 16393943 14725611 11834606 17906064 12392966 16781746 11739529 19739265 11743745 14986274 16485898 17562736 16227642
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.3820420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 12.8518230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 12.8518230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.7012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Progesterone 9.7017692515
MESH:D016889 Endometrial Neoplasms Tretinoin 3.2116569247
MESH:D004715 Endometriosis Progesterone 9.4716134523
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.479294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.2611564622
MESH:D005124 Eye Abnormalities Tretinoin 9.269664655 16938888
MESH:D005234 Fatty Liver Cyclosporine 14.0319224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.0315345470
MESH:D005234 Fatty Liver pirinixic acid 14.0319236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005355 Fibrosis Cyclosporine 16.0312639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 16.0320067830
MESH:D005355 Fibrosis Tretinoin 16.0317994277
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D005909 Glioblastoma Tretinoin 3.1117312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2916096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.4216084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8111294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 6.8114991402 9664655
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly pirinixic acid 8.9916221962 19176532 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.9915340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 16959395 15340226 18606429 16354765
MESH:D006930 Hyperalgesia Acetaminophen 8.0916870215
MESH:D006930 Hyperalgesia Tretinoin 8.0916870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7816778211
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Cyclosporine 5.1410903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1418670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D020244 Infarction, Middle Cerebral Artery Progesterone 4.6215869954
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Progesterone 5.2515869954
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2512200463 12878042
MESH:D007333 Insulin Resistance bisphenol A 7.6716393666
MESH:D007333 Insulin Resistance pirinixic acid 7.6716306350
MESH:D007410 Intestinal Diseases Tretinoin 3.9817994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.5116580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.5115992940 17551590
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Acetaminophen 6.1012587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.1018776723 8314463 10903974
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.7616705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.7612371664
MESH:D007938 Leukemia Tretinoin 2.8417143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.8716482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 2.1016294345 17596541 19850784
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.2616766008 17361223 19225113 19642359 17217047 17107899 16140955 16823087 12679006 16935935 15748426 16891316 17368321 17294898 17506722 17301526 17712046 17649720 9834237 17339181 19029980 16788101 16331271 19075265 19035177
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.439224671
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.4915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4912878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.4916248980 18397230
MESH:D008107 Liver Diseases Acetaminophen 1.6616610002 12969438 19460945 16611625 19014921 11587558 19784758 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.667678174
MESH:D008113 Liver Neoplasms pirinixic acid 7.6616377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.6616984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.076135515 2876786 2876784
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0712151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Progesterone 2.9717203775 11408345
MESH:D008527 Medulloblastoma Tretinoin 2.8417453147
MESH:D008545 Melanoma Tretinoin 1.9616752155
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008591 Meningomyelocele Tretinoin 4.6416940565
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009190 Myelodysplastic Syndromes Tretinoin 3.1717596541
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.107678174 18551238
MESH:D009369 Neoplasms pirinixic acid 5.1717405874
MESH:D009369 Neoplasms Tretinoin 5.1716594593 16946489
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009421 Nervous System Malformations bisphenol A 17.5716427766 11399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 17.5714600291
MESH:D009421 Nervous System Malformations Tretinoin 17.579125849
MESH:D009436 Neural Tube Defects Tretinoin 3.169142499
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5916049721
MESH:D010049 Ovarian Diseases bisphenol A 5.2311985600
MESH:D010051 Ovarian Neoplasms Progesterone 5.0716525653 17393432
MESH:D010051 Ovarian Neoplasms Tretinoin 5.0716936753
MESH:D010146 Pain Acetaminophen 7.0716870215
MESH:D010146 Pain Tretinoin 7.0716870215
MESH:D010190 Pancreatic Neoplasms Tretinoin 2.5115976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3712371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.3110548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.3111399792 11118676 11896295 11222880
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.3820887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3816740699
MESH:D011507 Proteinuria Tretinoin 3.7916636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.5515861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D011625 Pterygium Tretinoin 5.0316723453
MESH:D011629 Puberty, Precocious bisphenol A 5.0210548101
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012208 Rhabdomyosarcoma Tretinoin 4.2816283617 16116481
MESH:D012468 Salivary Gland Neoplasms Progesterone 2.9118045962
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6418551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D012878 Skin Neoplasms Tretinoin 5.8016467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D013119 Spinal Cord Injuries Progesterone 4.5215862959 16503802
MESH:D013274 Stomach Neoplasms Tretinoin 1.8017261132
MESH:D019966 Substance-Related Disorders bisphenol A 4.2216045194 16684133
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms Tretinoin 3.1517045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 3.9516051514
MESH:D014376 Tuberculosis Tretinoin 3.3316040207
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3416049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5610091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.8416129372
MESH:D014591 Uterine Diseases bisphenol A 5.2714652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D014604 Uveal Neoplasms Tretinoin 4.8816752155
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7115869587 14671159
MESH:D014820 Vitiligo Tretinoin 4.2516761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
MESH:D009396 Wilms Tumor Tretinoin 4.1216287080
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
KEGG:04623 Cytosolic DNA-sensing pathway
KEGG:01100 Metabolic pathways
KEGG:00230 Purine metabolism
KEGG:00240 Pyrimidine metabolism
KEGG:03020 RNA polymerase
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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