AutismKB 2.0

Annotation Detail for POLR1E


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Basic Information Top
Gene Symbol:POLR1E ( FLJ13390,FLJ13970,PAF53,PRAF1,RP11-405L18.3 )
Gene Full Name: polymerase (RNA) I polypeptide E, 53kDa
Band: 9p13.2
Quick LinksEntrez ID:64425; OMIM: NA; Uniprot ID:RPA49_HUMAN; ENSEMBL ID: ENSG00000137054; HGNC ID: 17631
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00240Pyrimidine metabolism
hsa03020RNA polymerase
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
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of POLR1E mRNAaffects cotreatment|affects expression 17602206
C030123 coumarin coumarin results in increased expression of POLR1E mRNAincreases expression 18480146
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of POLR1E mRNAaffects cotreatment|affects expression 17602206
D012402 Rotenone Rotenone results in decreased expression of POLR1E mRNAdecreases expression 19013527
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of POLR1E mRNAincreases expression 19465110
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3811752688 14514962 15322242
MESH:D000236 Adenoma Diethylnitrosamine 3.036695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 11.9218056438 19052882 19061943 17162532 16434500 17620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9417474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 1.8718056438 17978847 16807293 19171122 16698587 17173139 19519916 19052882 19418558 17055752 11831363 18788625 16779866 20007298 20512989 19539802 16540662 17138121 19394651 19919837 18971187 18210153 10737359 19335982 19822196 10672840 16569478 16328049 17428255 18506893 20524982 16288022 20101231 19701751 17162532 3084413 16830150 21159647 19208518 16502159 18665156 20514400 18978308 18393292 19107877 16878318 19383236 3581430 20935162 17761372 20727157 20214788 20084675 18785209 16935385 18494052 20432363 16681979 18691550
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 18850075 16120746
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 3.0917174075 7505956 21159647 2727394
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 10.4319052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 10.4316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.228697196 15668235 15340226 12621046 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 20055451 10048152
MESH:D003924 Diabetes Mellitus, Type 2 coumarin 7.6119647726
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 7.6120387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 7.6117107852
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 4.0119107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5116714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.7316302075
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Diethylnitrosamine 3.5620387270 21071580
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3712621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616354765 15340226 16959395 18606429 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D007249 Inflammation Diethylnitrosamine 5.4418785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4412878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9918407596 18665156 19638242 20032147 18522880
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1617034775
MESH:D008113 Liver Neoplasms Clofibric Acid 8.1117602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 8.1115175105 19426721 15885732 20101389 19254457 21047994 19551842 19427195 2422723 20452335 20434301 19638242 21071580 18644402 19073162 12771043 10737359 19812893 21167192 19833225 19090486 18754104 19850985 12112319 20492335 19499222 19996281 21278145 19294768 19690152 18648771 20137499 2862719 16942905 20583210 9163691 19642983 19255062 20501860 20118626 18978307 19256749 20405173 18977376
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.1116984957
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.4519004024 18079962 2563599 19009564 16842330 18544905 19519916 19539802 18282651 19126423 17942915 3124819 18164116 18775883 18253720 18093689 9362446 16267830 17174075 21159647 18308698 17854601
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4512151625
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.346695378 21163286 20512841 20970405
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3419555203 11884234
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.683581430 9029167
MESH:D009410 Nerve Degeneration Rotenone 4.1517356569 15790535 18619942
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.6520387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.7320387270
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.5216540662
MESH:D010300 Parkinson Disease Rotenone 3.0816140633 19114014 15451049 11535288 18191903 11445065 16412576 19232380 18619942
MESH:D020734 Parkinsonian Disorders Rotenone 4.4215795934 15574749 18197244 15927086
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.882563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311118676 11222880 11399792 11896295
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.257505956
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D014689 Venous Insufficiency coumarin 6.3912708602
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
KEGG:00230 Purine metabolism
KEGG:00240 Pyrimidine metabolism
KEGG:03020 RNA polymerase
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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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