AutismKB 2.0

Annotation Detail for EPRS


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Basic Information Top
Gene Symbol:EPRS ( DKFZp313B047,EARS,GLUPRORS,PARS,QARS,QPRS )
Gene Full Name: glutamyl-prolyl-tRNA synthetase
Band: 1q41
Quick LinksEntrez ID:2058; OMIM: 138295; Uniprot ID:SYEP_HUMAN; ENSEMBL ID: ENSG00000136628; HGNC ID: 3418
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
TRNA-CHARGING-PWYtRNA charging pathway
Pathway IDPathway Name
hsa00860Porphyrin and chlorophyll metabolism
hsa00970Aminoacyl-tRNA biosynthesis
hsa01100Metabolic pathways
Pathway IDPathway Name
Gene Expression
No data
Pathway IDPathway Name
P02746Heme biosynthesis
Pathway IDPathway Name
500660Cytosolic tRNA aminoacylation
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D003913 Dextroamphetamine Dextroamphetamine results in increased expression of EPRS mRNAincreases expression 12558987
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 EPRS mRNAdecreases expression 19150397
20018196
C006780 bisphenol A bisphenol A results in decreased expression of EPRS mRNAdecreases expression 20678512
D016572 Cyclosporine Cyclosporine results in increased expression of EPRS mRNAincreases expression 20106945
D005472 Fluorouracil Fluorouracil results in decreased expression of EPRS mRNAdecreases expression 16709241
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of EPRS mRNAaffects cotreatment|increases expression 17183730
D008727 Methotrexate EPRS protein affects the susceptibility to Methotrexateaffects response to substance 16217747
C004648 testosterone enanthate testosterone enanthate affects the expression of EPRS mRNAaffects expression 17440010
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of EPRS mRNAaffects cotreatment|increases expression 17183730
C025643 vinclozolin vinclozolin affects the expression of EPRS mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Methotrexate 9.6312039119
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.638875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000230 Adenocarcinoma Fluorouracil 2.4617638652
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000740 Anemia Fluorouracil 3.8715504547 17963324 16511603
MESH:D001008 Anxiety Disorders Valproic Acid 9.3217497229
MESH:D001008 Anxiety Disorders vinclozolin 9.3219015723
MESH:D001172 Arthritis, Rheumatoid Methotrexate 3.1317286800
MESH:D001321 Autistic Disorder Valproic Acid 1.9917688650 18316065 18177632 18985861 18775368 18940202 16609825 20603192 19460635 18558336 19232924 17507914 17157402 18396377 15238991
MESH:D001714 Bipolar Disorder Valproic Acid 3.1517594078 20046352
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.518888407
MESH:D001862 Bone Resorption bisphenol A 4.0311985600
MESH:D001943 Breast Neoplasms bisphenol A 2.0817123778
MESH:D001943 Breast Neoplasms Fluorouracil 2.0816557594 15136595 16110121 19217205 18357371 18608205 16595493
MESH:D001943 Breast Neoplasms Methotrexate 2.0816978400
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9316051944
MESH:D002277 Carcinoma Fluorouracil 3.7017121937
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 2.1017045692 17088986 16799960 18930000 16332177 17971768
MESH:D002278 Carcinoma in Situ bisphenol A 5.2317123778
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0918695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5317066447 16757204 18986760 16280240
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 6.9420889678
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9412371664
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D002779 Cholestasis Cyclosporine 3.0419486331
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2615001691 17018589 16510598 16340194 17725105 17172411 17016597 17287894 18772588 17169374
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0017594712 17401013 15289873 20501625 18448328 16303861 17094418 15148649 16282729 16524972 18288408 18509181 16391804 17454858 17016601 18383874 18949393 18802399 17255274 17695437 14970324 16331619
MESH:D019465 Craniofacial Abnormalities Methotrexate 3.039562676 12039119
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.038888407 16575769 17688650
MESH:D003456 Cryptorchidism vinclozolin 4.5414966744
MESH:D003550 Cystic Fibrosis Methotrexate 4.4019747007
MESH:D007644 Darier Disease Fluorouracil 5.0316733453
MESH:D003882 Dermatomyositis Methotrexate 5.3220191521
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 2.2119641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3717275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.183922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0120417680 18234410
MESH:D004832 Epilepsy, Absence Valproic Acid 3.747562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6420426865
MESH:D004938 Esophageal Neoplasms Fluorouracil 4.6415173087 16481741 17638652 16337965 16785472
MESH:D005234 Fatty Liver Cyclosporine 8.3319224547
MESH:D005234 Fatty Liver Valproic Acid 8.3314986274 19224547
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.338888407 18558336
MESH:D005355 Fibrosis Cyclosporine 3.3612639820 12168785
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5716417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D005910 Glioma Fluorouracil 2.9316145905
MESH:D006086 Graft vs Host Disease Methotrexate 5.3616518429
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5018337622 15102660 15162350
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.0117440010
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006973 Hypertension Cyclosporine 2.1510903974
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8416612254
MESH:D007248 Infertility, Male vinclozolin 3.1516467254
MESH:D007333 Insulin Resistance bisphenol A 3.3916393666
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Cyclosporine 2.438314463 18776723 10903974
MESH:D007680 Kidney Neoplasms Cyclosporine 7.8812371664
MESH:D007680 Kidney Neoplasms Fluorouracil 7.8816985049
MESH:D007805 Language Development Disorders Methotrexate 5.299562676
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1717596541 16294345
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9716417039
MESH:D008103 Liver Cirrhosis Methotrexate 3.7914986274
MESH:D008113 Liver Neoplasms Fluorouracil 2.5318383874 17045692 15113037 16603448
MESH:D017563 Lung Diseases, Interstitial Methotrexate 12.3718516814
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 12.3717228818
MESH:D008175 Lung Neoplasms Fluorouracil 2.0015246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0315086387
MESH:D008223 Lymphoma Methotrexate 4.0717352296
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D008881 Migraine Disorders Valproic Acid 3.3118765137 18803445
MESH:D009041 Motion Sickness Dextroamphetamine 5.791613127
MESH:D009062 Mouth Neoplasms Fluorouracil 3.7618986760 16757204
MESH:D052016 Mucositis Methotrexate 5.5217488658
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2417596541
MESH:D009369 Neoplasms Fluorouracil 2.6816928823 18600527 18239605
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D009421 Nervous System Malformations bisphenol A 4.1716427766 11399458
MESH:D009436 Neural Tube Defects Valproic Acid 3.2316359493 8888407
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5516436463
MESH:D010049 Ovarian Diseases bisphenol A 5.2311985600
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7216500647 19003803 15113037 16929163
MESH:D011230 Precancerous Conditions Cyclosporine 3.3712371664
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 17.7910548101
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 17.7920603192
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 17.7918220299 18042343 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.1718220299
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.3820887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3516740699
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3519082440 18626508
MESH:D011472 Prostatitis vinclozolin 5.1718629315
MESH:D019310 Pseudolymphoma Valproic Acid 4.8111422049 12752131
MESH:D011565 Psoriasis Cyclosporine 6.0816882103
MESH:D011565 Psoriasis Methotrexate 6.0817410198
MESH:D011629 Puberty, Precocious bisphenol A 5.0210548101
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1618286688 16160472 15538739 18722050
MESH:D051437 Renal Insufficiency Methotrexate 4.9317352296
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures Valproic Acid 2.8515475178 11044598 16876388 3137016 17978042 14763951 11738929 1511512
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0016424979 19015929 17522103 17172411 16951190 18396642 15786421 18567086 19084572 17498489
MESH:D019966 Substance-Related Disorders bisphenol A 4.2216684133 16045194
MESH:D013576 Syndactyly Methotrexate 5.239562676
MESH:D014062 Tongue Neoplasms Fluorouracil 4.1516280240
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0416803524
MESH:D014591 Uterine Diseases bisphenol A 5.2714652134
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
Pathway ID Pathway Name
KEGG:00970 Aminoacyl-tRNA biosynthesis
REACT:71 Gene Expression
KEGG:01100 Metabolic pathways
KEGG:00860 Porphyrin and chlorophyll metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA27837
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA449789glycine
    PA448055l-alanine
    PA448478l-arginine
    PA449173l-cysteine
    PA10090l-glutamine
    PA449882l-histidine
    PA450197l-leucine
    PA450280l-lysine
    PA450423l-methionine
    PA450931l-phenylalanine
    PA451125l-proline
    PA451330l-serine
    PA451673l-threonine
    PA10323l-tryptophan
    PA451822l-tyrosine
    PA451843l-valine
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB00142 - L-Glutamic Acid Dietary supplement;Micronutrient;Non-Essential Amino Acids
    DB00172 - L-Proline Dietary supplement;Micronutrient;Non-Essential Amino Acids
    DB02510 - '5'-O-(N-(L-Prolyl)-Sulfamoyl)Adenosine
    DB02684 - 5'-O-(N-(L-Cysteinyl)-Sulfamoyl)Adenosine
    DB03376 - '5'-O-(N-(L-Alanyl)-Sulfamoyl)Adenosine
    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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