AutismKB 2.0

Annotation Detail for POLR2F


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Basic Information Top
Gene Symbol:POLR2F ( HRBP14.4,POLRF,RPABC2,RPB14.4,RPB6 )
Gene Full Name: polymerase (RNA) II (DNA directed) polypeptide F
Band: 22q13.1
Quick LinksEntrez ID:5435; OMIM: 604414; Uniprot ID:RPAB2_HUMAN; ENSEMBL ID: ENSG00000100142; HGNC ID: 9193
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
P00023General transcription regulation
P00055Transcription regulation by bZIP transcription factor
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
500579RNA Polymerase III Abortive And Retractive Initiation
500366MicroRNA (miRNA) Biogenesis
500065Formation of transcription-coupled NER (TC-NER) repair complex
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1887Carcinoma
2053Colon cancer
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of POLR2F mRNAaffects expression 21346803
D000643 Ammonium Chloride Ammonium Chloride affects the expression of POLR2F mRNAaffects expression 16483693
D002995 Clofibric Acid [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of POLR2F mRNAaffects cotreatment|affects expression 17602206
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with Clofibric Acid] affects the expression of POLR2F mRNAaffects cotreatment|affects expression 17602206
D005419 Flavonoids Flavonoids results in decreased expression of POLR2F mRNAdecreases expression 18035473
D007657 Ketone Bodies Ketone Bodies results in increased expression of POLR2F mRNAincreases expression 16807920
D018038 Sodium Selenite Sodium Selenite results in increased expression of POLR2F mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of POLR2F mRNAdecreases expression 15328365
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of POLR2F mRNAincreases expression 18796159
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000236 Adenoma Diethylnitrosamine 2.986695378 10737359
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 11.2116434500 17620307 19052882 19061943 17162532 18056438
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.2116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9417474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.0816705839
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 3.0820514400 10737359 17761372 20432363 19394651 16681979 19335982 16830150 10672840 20524982 19208518 18788625 16288022 21159647 17173139 16779866 19539802 18056438 17978847 18665156 3084413 18691550 19519916 16878318 18393292 17162532 3581430 16540662 19171122 18971187 17428255 19822196 16569478 18494052 17055752 16698587 19052882 19383236 18506893 16502159 19919837 16328049 20084675 18785209 20935162 19107877 18210153 18978308 20214788 20727157 17138121 20101231 16807293 11831363 16935385 20007298 19701751 20512989 19418558
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18850075 18670907
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.236135515
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 7.232727394 17174075 21159647 7505956
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 10.0519052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 10.0516835633
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0615894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 15668235 12621046 16354765 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.3218551238
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9916285004
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 4.3820387270
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3817107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 9.4918551238 21346803
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 9.4919107877
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 9.4915131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 9.4920420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4916302075
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Diethylnitrosamine 3.4320387270 21071580
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4411294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2016120746 12621046 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4216354765 18606429 8697196 15340226 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007249 Inflammation Diethylnitrosamine 8.9818785209
MESH:D007249 Inflammation Flavonoids 8.9817296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 8.9812878042 12200463
MESH:D007333 Insulin Resistance Sodium Selenite 3.4214714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 3.1816705839
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9420032147 19638242 18665156 18522880 18407596
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Diethylnitrosamine 2.1517034775
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 11.377678174
MESH:D008113 Liver Neoplasms Clofibric Acid 11.3717602206
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.3721071580 19256749 20434301 20405173 19255062 12771043 15885732 20137499 21167192 18648771 2422723 18644402 20501860 19690152 16942905 12112319 20583210 10737359 2862719 19812893 19073162 20101389 19642983 18754104 20118626 15175105 19996281 20452335 18978307 19426721 19551842 20492335 19090486 9163691 19850985 21278145 21047994 18977376 19294768 19833225 19427195 19254457 19638242 19499222
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.3716984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 10.626135515 2876784 2876786
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 10.6218308698 18093689 3124819 18775883 19519916 17942915 18253720 18544905 19004024 18079962 16842330 16267830 19009564 18164116 17174075 19126423 18282651 17854601 9362446 2563599 21159647 19539802
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 10.6212151625
MESH:D008175 Lung Neoplasms Diethylnitrosamine 2.3121163286 6695378 20970405 20512841
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3119555203 11884234
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.3214737004
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.2018551238 7678174
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.653581430 9029167
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 3.5420387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4920387270
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.6616049721
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4916540662
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.772563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11118676 11399792 11222880
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.3518760546
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6918551238
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 1.7618456281
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.167505956
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3716049721
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.6610091137
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
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
  • PharmGKB Accession:PA33513
    • No data
    Releated disease ID Related disease Name
    PA446058Waardenburg's Syndrome
    No data
    Drug Bank Top

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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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