AutismKB 2.0

Annotation Detail for PPCS


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Basic Information Top
Gene Symbol:PPCS ( FLJ11838,MGC117357,MGC138220 )
Gene Full Name: phosphopantothenoylcysteine synthetase
Band: 1p34.2
Quick LinksEntrez ID:79717; OMIM: 609853; Uniprot ID:PPCS_HUMAN; ENSEMBL ID: ENSG00000127125; HGNC ID: 25686
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
COA-PWYcoenzyme A biosynthesis
Pathway IDPathway Name
hsa00770Pantothenate and CoA biosynthesis
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of vitamins and cofactors
No data
Pathway IDPathway Name
P02736Coenzyme A biosynthesis
Pathway IDPathway Name
500598Coenzyme A biosynthesis
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of PPCS mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of PPCS mRNAaffects expression 17562736
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PPCS mRNAaffects expression 17555576
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of PPCS mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid pirinixic acid results in increased expression of PPCS mRNAincreases expression 18301758
17426115
D013629 Tamoxifen Tamoxifen affects the expression of PPCS mRNAaffects expression 17555576
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 5.1614745880
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D000799 Angioedema Acetaminophen 4.4510982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D001943 Breast Neoplasms Tamoxifen 2.1717242785 15565566 18425577 19155303 19244106 19084267 16818667 19221464 20859285 17893378 17049068 19288272 18855134 18815881 20005174 19115204 19066611 20544844 19487384 18629630 20065188 19410462 18984771 15668708 18351453 19189210 19289846 17261762 16202921 19189212 21152245 20135344 16873071 20390343 16273361 11161223 19103187 19011961 18821012 21138602 19142967 17440819 19200415 19059307 18997820
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.9919066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 4.7616705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.763084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 4.7616924424
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.9617572228
MESH:D002386 Cataract Acetaminophen 2.7710977129
MESH:D002779 Cholestasis Ethinyl Estradiol 8.6217681005 17110522 11677210 15861022 16919318 17333356 16105132
MESH:D002779 Cholestasis pirinixic acid 8.6219176532
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.5018551238
MESH:D003711 Demyelinating Diseases Tamoxifen 4.8519031437
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.8019279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 3.9921346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.9919923254 11743745 11739529 11834606 16393943 14725611 12153990 10915739 10774834 11461765 16081117 12540782 18713872 11529661 19420014 16781746 16485898 12705907 19164858 17522070 12594235 16227642 15619225 11287661 16177239 14550746 17562736 11421492 19370779 14986274 19085960 17906064 15968718 16109766 10663392 18071297 2444490 19739265 12392966 19416960 12958197
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.7119426721
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 10.4512538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 10.4519031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.2617893378 19155303 16202921 20544844
MESH:D005234 Fatty Liver Ethinyl Estradiol 15.3115345470
MESH:D005234 Fatty Liver pirinixic acid 15.3120131406 19236843
MESH:D005234 Fatty Liver Tamoxifen 15.3119224547 14986274
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.4316709447
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 5.0714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.7219069698
MESH:D005756 Gastritis Acetaminophen 4.2916983495
MESH:D006333 Heart Failure pirinixic acid 2.7320558911
MESH:D006529 Hepatomegaly pirinixic acid 3.4819176532 16221962 18467677 19772884
MESH:D006930 Hyperalgesia Acetaminophen 2.9916870215
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007249 Inflammation Tamoxifen 2.5119457130
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007674 Kidney Diseases Acetaminophen 2.3812587719 15629191
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 8.4116705839
MESH:D007680 Kidney Neoplasms Tamoxifen 8.4118625569
MESH:D008064 Lipidoses Tamoxifen 3.4015342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.4015474484
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.4018564211
MESH:D008107 Liver Diseases Acetaminophen 1.6916610002 19784758 11587558 19460945 12587719 12969438 16611625 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5816871587 17185352
MESH:D008113 Liver Neoplasms pirinixic acid 4.8015890375 16377806 20007298
MESH:D008113 Liver Neoplasms Tamoxifen 4.8016684651
MESH:D008175 Lung Neoplasms Tamoxifen 1.7418625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.3019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.8311731420 19196723 14580682 16827153 19196722
MESH:D020149 Manganese Poisoning Tamoxifen 5.1619453300
MESH:D008545 Melanoma Tamoxifen 1.9219393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.7215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 4.0519513568
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.4018551238
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6619393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.6019410462
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.6119196722 19189210 19200415
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1818514411
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7812819281 16049721
MESH:D010146 Pain Acetaminophen 2.6916870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.0915067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.8515861022 16919318
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7618551238
MESH:D013088 Spermatocele Ethinyl Estradiol 13.6916709447
MESH:D013088 Spermatocele Tamoxifen 13.6916709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.5819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.4216049721
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 5.4216712894 8653321 17572228
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.8610091137
MESH:D014581 Urticaria Acetaminophen 3.3810982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9115869587 14671159
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
REACT:11193 Metabolism of vitamins and cofactors
KEGG:00770 Pantothenate and CoA biosynthesis
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA142671158
    • No data
    No data
    Releated drug ID Related drug Name
    PA449173l-cysteine
    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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