AutismKB 2.0

Annotation Detail for POLE


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Basic Information Top
Gene Symbol:POLE ( DKFZp434F222,FLJ21434,POLE1 )
Gene Full Name: polymerase (DNA directed), epsilon
Band: 12q24.33
Quick LinksEntrez ID:5426; OMIM: 174762; Uniprot ID:DPOE1_HUMAN; ENSEMBL ID: ENSG00000177084; HGNC ID: 9177
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00240Pyrimidine metabolism
hsa03030DNA replication
hsa03420Nucleotide excision repair
hsa00230Purine metabolism
hsa03410Base excision repair
hsa01100Metabolic pathways
Pathway IDPathway Name
Cell Cycle, Mitotic
DNA Replication
Chromosome Maintenance
DNA Repair
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016590 Aphidicolin Aphidicolin results in decreased activity of POLE proteindecreases activity 14975937
C015001 arsenite arsenite results in decreased expression of POLE mRNAdecreases expression 18929588
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of POLE mRNAincreases expression 20713471
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of POLE mRNAaffects expression 17484886
D003474 Curcumin Curcumin results in decreased expression of POLE mRNAdecreases expression 18299980
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of POLE mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLE mRNAaffects cotreatment|increases expression 17942748
D010126 Ozone TTPA protein affects the reaction [Ozone results in increased expression of POLE mRNA]affects reaction|increases expression 19555225
C006253 pirinixic acid pirinixic acid results in increased expression of POLE mRNAincreases expression 17950772
C006253 pirinixic acid PPARA protein promotes the reaction [pirinixic acid results in increased expression of POLE mRNA]increases expression|increases reaction 17950772
C017947 sodium arsenite sodium arsenite results in decreased expression of POLE mRNAdecreases expression 12377979
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of POLE mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of POLE mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0815322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3020127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3014692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.746695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.7116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.7116835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 4.9615276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.1716712894 17306315
MESH:D019973 Alcohol-Related Disorders Curcumin 5.3517887948
MESH:D000544 Alzheimer Disease Curcumin 4.5215590663
MESH:D000544 Alzheimer Disease Ozone 4.5215513908
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001172 Arthritis, Rheumatoid Curcumin 4.9616807698
MESH:D001172 Arthritis, Rheumatoid Ozone 4.9615570426
MESH:D001249 Asthma Ozone 2.6816373670 17854713
MESH:D050197 Atherosclerosis Curcumin 3.4118704882
MESH:D001327 Autoimmune Diseases Curcumin 4.7119761891
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.3519483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.3512125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D002545 Brain Ischemia Curcumin 4.5716770732
MESH:D001932 Brain Neoplasms Curcumin 4.1017596214
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8720146248 17474063
MESH:D001943 Breast Neoplasms Curcumin 1.8716243823 19250217 18462866 18593918
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.8118315731 17626835 15516495 16777450 18417511 14754758 19059883
MESH:D002100 Cachexia Ozone 4.9816183385
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9916227642 16097048 15673190 3786805 15721981 16050911 16192424 10355542 15700767 18705752 16124888 16011737
MESH:D002277 Carcinoma Curcumin 8.7518593918
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.7516835633
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.1318788625
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 3.1315276417 16507464 17306315
MESH:D002289 Carcinoma, Non-Small-Cell Lung Curcumin 3.0318414057
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 7.8320419170
MESH:D002294 Carcinoma, Squamous Cell Curcumin 7.8318462866
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 7.8318572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Aphidicolin 8.118243401
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 8.1119524636 20056578
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1717110522 16105132 17333356 17681005 11677210 16919318 15861022
MESH:D002779 Cholestasis pirinixic acid 8.1719176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 15668235 15340226 16354765 12621046
MESH:D003092 Colitis Curcumin 4.3916804969 16782535 18200517
MESH:D003103 Coloboma Curcumin 4.7218809619
MESH:D003110 Colonic Neoplasms arsenite 4.1515037631
MESH:D003110 Colonic Neoplasms Curcumin 4.1519359593 16340194
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D016510 Corneal Neovascularization Curcumin 5.1118497527
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D003924 Diabetes Mellitus, Type 2 Curcumin 4.5318403477
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.5317107852
MESH:D003928 Diabetic Nephropathies Curcumin 4.1618204486
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 3.876884620 4309450 7120509 10915739 15998439 11566570 2869522 7440962 15027814 19336974 10092053 17522070 21278145 16177239 6623471 16227642 3786805 19085960 7179309 9327722 3732212 15968718
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004381 Duodenal Ulcer Curcumin 4.2517351913
MESH:D004487 Edema pirinixic acid 7.1112083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.1111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3812538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0416530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver arsenite 26.6318296743
MESH:D005234 Fatty Liver Carbon Tetrachloride 26.6312631006 12795759 15959796 16045604 16239168 19224547 17595544 61145
MESH:D005234 Fatty Liver Curcumin 26.6319297423
MESH:D005234 Fatty Liver Ethinyl Estradiol 26.6315345470
MESH:D005234 Fatty Liver pirinixic acid 26.6319236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005355 Fibrosis arsenite 23.1118296743
MESH:D005355 Fibrosis Carbon Tetrachloride 23.1118705752
MESH:D005355 Fibrosis Curcumin 23.1118705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 23.1120067830
MESH:D005770 Gastrointestinal Neoplasms Curcumin 4.9118462866
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.9216452187
MESH:D005909 Glioblastoma Curcumin 3.5817596214
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006258 Head and Neck Neoplasms Curcumin 3.7718829502 18462866
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.7220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.7210048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7919900420 19110552
MESH:D006529 Hepatomegaly pirinixic acid 8.9919176532 16221962 18467677 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.9915340226 12621046 16120746
MESH:D015417 Hereditary Sensory and Motor Neuropathy Curcumin 5.2617701891
MESH:D006689 Hodgkin Disease sodium arsenite 3.3012676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3118606429 8697196 16354765 15340226 16959395
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7716899240
MESH:D006937 Hypercholesterolemia Curcumin 4.2218704882
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3015338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.0117937319
MESH:D007248 Infertility, Male sodium arsenite 7.0112646999 15346721
MESH:D007249 Inflammation Curcumin 5.3617151092 18403477 16956363
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3612878042 12200463
MESH:D015212 Inflammatory Bowel Diseases Curcumin 3.2718596194 18200517
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007414 Intestinal Neoplasms Curcumin 4.3810783313
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases sodium arsenite 2.8920008137
MESH:D007889 Leiomyoma Curcumin 4.7618555241
MESH:D007938 Leukemia Curcumin 3.3218462866
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell Curcumin 4.3816106398
MESH:D015458 Leukemia, T-Cell Curcumin 4.9616106398
MESH:D008103 Liver Cirrhosis arsenite 7.1218296743
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.1211903743 17334410 17157831 17174718 16221502 21278145 16239168 11408273 16943688
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 5.0916638106 16033810 17761835 15362042 18263696 18429990 12389079 18210741 14512876 18339082 17481882 18187930 15931870 14724832 18277467 12586293 16136751 13678700 16015684 11481614 15959796 18205269 16011737 17640975 15052691 18156304 18472332 17900296 17708605 18420326 18395914 15650968 17976157 12741479 18317297 20821823 16116963 12546737 17714472 18279442 17565644 12632514 18251166 15730626 18006644 12958196 17922224 15996030 12666154 12609069 17869086 15057751 12649538 18395095 12445418 17944888 15370692 18412020 15925388 15893842 17698563 16027843 18472094 15876570 14716496 17525996 14748882 17805973 18054572 15338365 15818738 16097048 14620537 17557913 17823541 12445421 18376398 18481824 18166357 12632512 16192424 17631135 12898905 17721639 14716833 16248980 10355542 18705752 12667390 15123356 18418968 17766677 15673190
MESH:D008106 Liver Cirrhosis, Experimental Curcumin 5.0918006644 18705752 17355460
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 5.0915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.0912878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.3915720792 16246199 17285989 16964402 15830285
MESH:D008107 Liver Diseases Curcumin 4.3916956363
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3815123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8514706259 16899240
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 14.8620195826 21137059
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 14.8619294768
MESH:D008113 Liver Neoplasms pirinixic acid 14.8615890375 20007298 16377806
MESH:D008113 Liver Neoplasms sodium arsenite 14.8616712894 15276417
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 14.8616984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.1015583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1012151625
MESH:D008171 Lung Diseases Ozone 7.898266340 19066396
MESH:D008171 Lung Diseases sodium arsenite 7.8919095001
MESH:D055370 Lung Injury Ozone 4.0620417186
MESH:D008175 Lung Neoplasms arsenite 8.8116809336
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 8.8118569708 18520028 20135361 20869020 6695378 20064080 18816296 17053015 20464547
MESH:D008175 Lung Neoplasms Curcumin 8.8119359593 16243823 18462866
MESH:D008175 Lung Neoplasms Ozone 8.817614698 8597069
MESH:D008175 Lung Neoplasms sodium arsenite 8.8117077188 15276417 17306315 19931552 16712894
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 8.8111884234 19555203
MESH:D008223 Lymphoma Curcumin 3.7118462866
MESH:D016399 Lymphoma, T-Cell Curcumin 4.9116173963
MESH:D008545 Melanoma Curcumin 3.6018462866 17885582
MESH:D008545 Melanoma sodium arsenite 3.6016487513 19082730
MESH:D008569 Memory Disorders Curcumin 4.3517263510
MESH:D008679 Metaplasia Ozone 5.3710496685
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D009101 Multiple Myeloma Curcumin 3.6319372569
MESH:D009134 Muscular Atrophy, Spinal Curcumin 5.1617962980
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
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:D009361 Neoplasm Invasiveness Curcumin 4.5718495463
MESH:D009369 Neoplasms Benzo(a)pyrene 8.6611141357
MESH:D009369 Neoplasms pirinixic acid 8.6617405874
MESH:D009369 Neoplasms sodium arsenite 8.6611559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.8820056578
MESH:D009376 Neoplasms, Hormone-Dependent Curcumin 4.8012497104
MESH:D009389 Neovascularization, Pathologic arsenite 4.6515738583
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009423 Nervous System Neoplasms Curcumin 5.9018462866
MESH:D009436 Neural Tube Defects sodium arsenite 3.2512854658
MESH:D009765 Obesity Curcumin 4.7319297423
MESH:D009765 Obesity pirinixic acid 4.7320558911
MESH:D010024 Osteoporosis Curcumin 3.5718719352
MESH:D010051 Ovarian Neoplasms Curcumin 5.2118462866 19020741
MESH:D010051 Ovarian Neoplasms sodium arsenite 5.2117306315 15276417
MESH:D010190 Pancreatic Neoplasms Curcumin 2.9919401701 17440100 19196508
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010538 Peritonitis Ozone 4.3516369182
MESH:D011014 Pneumonia Ozone 4.6318007984 18929643 18381685
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4311399792 11222880 11118676 11896295
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5717292933
MESH:D011471 Prostatic Neoplasms Curcumin 2.5718156803 18769126 11398177 18226269 12497104 15129424 10851300
MESH:D011471 Prostatic Neoplasms sodium arsenite 2.5716039940
MESH:D011537 Pruritus Ethinyl Estradiol 3.5516919318 15861022
MESH:D011656 Pulmonary Emphysema Curcumin 4.6919168576
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012128 Respiratory Distress Syndrome, Adult Curcumin 4.2118379247 10666014
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012509 Sarcoma Curcumin 4.2818462866
MESH:D018805 Sepsis Curcumin 4.2218389075
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 9.8319755658 10029692
MESH:D012878 Skin Neoplasms sodium arsenite 9.8319524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 9.8316192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2116709447
MESH:D016135 Spinal Dysraphism sodium arsenite 3.9312854658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013276 Stomach Ulcer Curcumin 3.6616631530 19188055
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.7317053015
MESH:D001749 Urinary Bladder Neoplasms Curcumin 8.7318593936
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 8.7317306315 16452187 16712894 11723127
MESH:D014565 Urogenital Neoplasms Curcumin 5.5018462866
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.9311813266
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D014652 Vascular Diseases sodium arsenite 4.6617056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7115869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:03410 Base excision repair
REACT:152 Cell Cycle, Mitotic
REACT:22172 Chromosome Maintenance
REACT:216 DNA Repair
REACT:383 DNA Replication
KEGG:03030 DNA replication
KEGG:01100 Metabolic pathways
KEGG:03420 Nucleotide excision repair
KEGG:00230 Purine metabolism
KEGG:00240 Pyrimidine metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA277
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    PA449748gemcitabine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00242 antagonist Cladribine Antineoplastic Agents;Immunosuppressive Agents
    No data
    No data
    No data

    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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