AutismKB 2.0

Annotation Detail for RFC1


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Basic Information Top
Gene Symbol:RFC1 ( A1,MGC51786,MHCBFB,PO-GA,RECC1,RFC,RFC140 )
Gene Full Name: replication factor C (activator 1) 1, 145kDa
Band: 4p14
Quick LinksEntrez ID:5981; OMIM: 102579; Uniprot ID:RFC1_HUMAN; ENSEMBL ID: ENSG00000035928; HGNC ID: 9969
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa03030DNA replication
hsa03420Nucleotide excision repair
hsa03430Mismatch repair
Pathway IDPathway Name
Cell Cycle, Mitotic
DNA Replication
Chromosome Maintenance
DNA Repair
Pathway IDPathway Name
200067FAS (CD95) signaling pathway
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1983Down syndrome
2239Lymphoma
2191Meningioma
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of RFC1 mRNAaffects expression 17562736
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 decreased expression of RFC1 mRNAdecreases expression 19150397
20382639
C055494 caffeic acid phenethyl ester [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of RFC1 mRNAaffects cotreatment|decreases expression 20360939
D004052 Diethylnitrosamine Diethylnitrosamine results in increased expression of RFC1 mRNAincreases expression 17854601
D004052 Diethylnitrosamine RB1 protein inhibits the reaction [Diethylnitrosamine results in increased expression of RFC1 mRNA]decreases reaction|increases expression 17854601
D004052 Diethylnitrosamine [Diethylnitrosamine co-treated with caffeic acid phenethyl ester] results in decreased expression of RFC1 mRNAaffects cotreatment|decreases expression 20360939
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of RFC1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RFC1 mRNAaffects cotreatment|increases expression 17942748
D005492 Folic Acid RFC1 protein mutant form promotes the reaction [FOLR1 protein mutant form results in decreased abundance of Folic Acid]decreases abundance|increases reaction 18926688
C006253 pirinixic acid pirinixic acid results in decreased expression of RFC1 mRNAdecreases expression 18445702
C017947 sodium arsenite sodium arsenite results in decreased expression of RFC1 mRNAdecreases expression 12760830
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of RFC1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of RFC1 mRNAincreases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1315322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2617505938
MESH:D058186 Acute Kidney Injury Folic Acid 4.5316316344 16595132 17003819
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8514692618
MESH:D000236 Adenoma Diethylnitrosamine 7.4210737359 6695378
MESH:D000236 Adenoma Folic Acid 7.4216963246
MESH:D018248 Adenoma, Liver Cell Diethylnitrosamine 19.0317620307 19052882 17162532 16434500 18056438 19061943
MESH:D018248 Adenoma, Liver Cell pirinixic acid 19.0316434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 19.0316835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.0215276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.2216712894 17306315
MESH:D000544 Alzheimer Disease Folic Acid 3.0817116317
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7815885639
MESH:D001321 Autistic Disorder Acetaminophen 2.1618445737
MESH:D001321 Autistic Disorder Folic Acid 2.1621388746
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D001943 Breast Neoplasms Diethylnitrosamine 1.9517474063
MESH:D001943 Breast Neoplasms Folic Acid 1.9516777985
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9520435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.703084413
MESH:D006528 Carcinoma, Hepatocellular Diethylnitrosamine 4.7020524982 19539802 16540662 3084413 20432363 19919837 20512989 16807293 11831363 18393292 19107877 19519916 18691550 20007298 16698587 17428255 16328049 17761372 16830150 18506893 20101231 20214788 18971187 19052882 16681979 20084675 21159647 16569478 20514400 19701751 10737359 19394651 18978308 3581430 16502159 19208518 20727157 10672840 19383236 18785209 17162532 16878318 18494052 16288022 18056438 17173139 16779866 17055752 18665156 20935162 19822196 19335982 19418558 17138121 16935385 19171122 18788625 18210153 17978847
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 4.7017306315 15276417 16507464
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4318572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4718670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Folic Acid 4.0916755160
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 12.0220889678
MESH:D002471 Cell Transformation, Neoplastic Diethylnitrosamine 12.0217174075 2727394 21159647 7505956
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 12.0220056578 19524636
MESH:D018281 Cholangiocarcinoma Diethylnitrosamine 9.9419052882
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 9.9416835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.2516919318 15861022 16105132 17333356 11677210 17110522 17681005
MESH:D002779 Cholestasis pirinixic acid 8.2519176532
MESH:D002971 Cleft Lip Folic Acid 4.0721254359
MESH:D002972 Cleft Palate Folic Acid 6.3521254359 8946559
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 6.3515340226 8697196 16354765 15668235 12621046
MESH:D003110 Colonic Neoplasms marker/mechanism 18926688
MESH:D015179 Colorectal Neoplasms Folic Acid 2.7016963246 17087956 16985020 17245555 17116713
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003924 Diabetes Mellitus, Type 2 Diethylnitrosamine 7.4520387270
MESH:D003924 Diabetes Mellitus, Type 2 Folic Acid 7.4516886840
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 7.4517107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.4316177239 11834606 19085960 19416960 15619225 17906064 10663392 16227642 12153990 12958197 2444490 17522070 11421492 16781746 16393943 11461765 17562736 14986274 16485898 14550746 18713872 14725611 10774834 12705907 12392966 11529661 19420014 18071297 16109766 11739529 19370779 12540782 15968718 10915739 16081117 19739265 12594235 11743745 19923254 11287661 19164858
MESH:D056486 Drug-Induced Liver Injury Diethylnitrosamine 6.4319107877
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema pirinixic acid 7.2312083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.2311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2216714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4212538720
MESH:D016889 Endometrial Neoplasms Folic Acid 4.1317301261
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.219294722 10568697
MESH:D004931 Esophageal Achalasia Diethylnitrosamine 5.4416302075
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D017889 Exfoliation Syndrome Folic Acid 5.7816504073
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver Diethylnitrosamine 14.2821071580 20387270
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.2815345470
MESH:D005234 Fatty Liver pirinixic acid 14.2820131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D005756 Gastritis Acetaminophen 12.3616983495
MESH:D005756 Gastritis Folic Acid 12.3617171786
MESH:D005833 Genital Neoplasms, Female sodium arsenite 4.9616452187
MESH:D005901 Glaucoma Folic Acid 5.3016504073
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Folic Acid 7.1917286298 16524890
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.1911294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6520558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly pirinixic acid 9.1416221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1415340226 12621046 16120746
MESH:D006679 HIV Seropositivity Folic Acid 5.7817209195
MESH:D006689 Hodgkin Disease sodium arsenite 3.3312676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.368697196 15340226 16354765 18606429 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D020138 Hyperhomocysteinemia Folic Acid 4.6816865747 16755160 16433478 16395265 16397167
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0716945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6812013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.0817937319
MESH:D007248 Infertility, Male sodium arsenite 7.0812646999 15346721
MESH:D007249 Inflammation Diethylnitrosamine 5.2218785209
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2212200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007414 Intestinal Neoplasms caffeic acid phenethyl ester 4.7810783313
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007674 Kidney Diseases Acetaminophen 10.8115629191 12587719
MESH:D007674 Kidney Diseases caffeic acid phenethyl ester 10.8115369732
MESH:D007674 Kidney Diseases sodium arsenite 10.8120008137
MESH:D015473 Leukemia, Promyelocytic, Acute caffeic acid phenethyl ester 4.1216766008
MESH:D008103 Liver Cirrhosis Diethylnitrosamine 2.9320032147 18407596 18665156 19638242 18522880
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1915474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1912878042
MESH:D008107 Liver Diseases Acetaminophen 6.8712969438 16611625 19784758 12587719 19460945 16610002 19014921 11587558
MESH:D008107 Liver Diseases Diethylnitrosamine 6.8717034775
MESH:D008107 Liver Diseases Folic Acid 6.8716877991
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4316871587 17185352
MESH:D008113 Liver Neoplasms Diethylnitrosamine 11.2519996281 12112319 19255062 19256749 19073162 19638242 21167192 20492335 20501860 19426721 2422723 21278145 20583210 18644402 20434301 20101389 19850985 9163691 19427195 19499222 15885732 21047994 2862719 20405173 20118626 20452335 18978307 18977376 19294768 19254457 19090486 18754104 19642983 12771043 21071580 20137499 19551842 19812893 15175105 10737359 19690152 19833225 18648771 16942905
MESH:D008113 Liver Neoplasms pirinixic acid 11.2515890375 20007298 16377806
MESH:D008113 Liver Neoplasms sodium arsenite 11.2515276417 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.2516984957
MESH:D008114 Liver Neoplasms, Experimental Diethylnitrosamine 6.1719126423 19009564 19519916 16267830 19004024 18093689 17174075 19539802 18308698 17942915 9362446 18544905 21159647 18775883 18164116 3124819 18253720 18079962 18282651 17854601 2563599 16842330
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.1712151625
MESH:D008171 Lung Diseases sodium arsenite 3.3019095001
MESH:D008175 Lung Neoplasms Diethylnitrosamine 3.5021163286 6695378 20512841 20970405
MESH:D008175 Lung Neoplasms sodium arsenite 3.5017077188 15276417 16712894 19931552 17306315
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5011884234 19555203
MESH:D008180 Lupus Erythematosus, Systemic Folic Acid 3.3817718048
MESH:D019767 Maxillofacial Abnormalities Folic Acid 5.9816832597
MESH:D008545 Melanoma sodium arsenite 2.0519082730 16487513
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009362 Neoplasm Metastasis Diethylnitrosamine 2.649029167 3581430
MESH:D009369 Neoplasms pirinixic acid 5.2517405874
MESH:D009369 Neoplasms sodium arsenite 5.2511559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 3.9220056578
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D009436 Neural Tube Defects Folic Acid 8.0717438019
MESH:D009436 Neural Tube Defects sodium arsenite 8.0712854658
MESH:D019636 Neurodegenerative Diseases Acetaminophen 8.7618514411
MESH:D019636 Neurodegenerative Diseases Diethylnitrosamine 8.7620387270
MESH:D009461 Neurologic Manifestations Diethylnitrosamine 5.4420387270
MESH:D009503 Neutropenia Folic Acid 4.7216322990
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.4917306315 15276417
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010190 Pancreatic Neoplasms Diethylnitrosamine 2.4816540662
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9111578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011230 Precancerous Conditions Diethylnitrosamine 3.732563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811118676 11896295 11399792 11222880
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.2716039940
MESH:D011537 Pruritus Ethinyl Estradiol 3.6016919318 15861022
MESH:D051437 Renal Insufficiency Folic Acid 5.0415728788
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012559 Schizophrenia Folic Acid 2.9216641680
MESH:D012871 Skin Diseases Folic Acid 3.2918709164
MESH:D012878 Skin Neoplasms sodium arsenite 5.8819524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8816192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.2616709447
MESH:D013118 Spinal Cord Diseases Folic Acid 5.7816361298
MESH:D016135 Spinal Dysraphism sodium arsenite 3.9512854658
MESH:D013274 Stomach Neoplasms Diethylnitrosamine 2.7918456281
MESH:D013274 Stomach Neoplasms Folic Acid 2.7917171786
MESH:D020521 Stroke Folic Acid 4.4916517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8411994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3315669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D013964 Thyroid Neoplasms Diethylnitrosamine 3.147505956
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.5716712894 17306315 16452187 11723127
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 3.9611813266
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5414692618
MESH:D014652 Vascular Diseases sodium arsenite 4.7117056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7515869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
Pathway ID Pathway Name
REACT:152 Cell Cycle, Mitotic
REACT:22172 Chromosome Maintenance
REACT:216 DNA Repair
REACT:383 DNA Replication
KEGG:03030 DNA replication
KEGG:03430 Mismatch repair
KEGG:03420 Nucleotide excision repair
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA34338
    • No data
    Releated disease ID Related disease Name
    PA443434Arthritis, Rheumatoid
    Releated drug ID Related drug Name
    PA450428methotrexate
    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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