AutismKB 2.0

Annotation Detail for PTS


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Basic Information Top
Gene Symbol:PTS ( FLJ97081,PTPS )
Gene Full Name: 6-pyruvoyltetrahydropterin synthase
Band: 11q22.3
Quick LinksEntrez ID:5805; OMIM: 612719; Uniprot ID:PTPS_HUMAN; ENSEMBL ID: ENSG00000150787; HGNC ID: 9689
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-5663tetrahydrobiopterin biosynthesis I
PWY-5664tetrahydrobiopterin biosynthesis II
Pathway IDPathway Name
hsa01100Metabolic pathways
hsa00790Folate biosynthesis
No data
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00167Phenylketonuria
Inherited disorders of amino acid metabolism
Genetic disorders
No data
Desease Name
tetrahydrobiopterin deficiency
No data
Desease Name
Hyperphenylalaninemia, BH4-deficient, A
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of PTS mRNAaffects expression 17562736
D013196 Dihydrotestosterone Dihydrotestosterone results in increased expression of PTS mRNAincreases expression 16631469
D000643 Ammonium Chloride Ammonium Chloride affects the expression of PTS mRNAaffects expression 16483693
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of PTS mRNAaffects expression 17555576
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of PTS mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PTS mRNAaffects cotreatment|increases expression 17942748
D013629 Tamoxifen Tamoxifen affects the expression of PTS mRNAaffects expression 17555576
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of PTS mRNAaffects cotreatment|increases expression 17942748
D015032 Zinc Zinc results in decreased expression of PTS mRNAdecreases expression 15226459
D019287 Zinc Sulfate Zinc Sulfate results in decreased expression of PTS mRNAdecreases expression 15226459
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.9214745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1811752688 14514962 15322242
MESH:D000138 Acidosis Ammonium Chloride 11.7718287403
MESH:D000138 Acidosis Zinc Sulfate 11.777265320
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000169 Acrodermatitis Zinc 5.7417190629 17202136 16889938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000544 Alzheimer Disease Zinc 2.8016580781 17119284 16410023 16325427
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000755 Anemia, Sickle Cell Zinc 5.1816916123
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D000860 Anoxia Zinc Sulfate 5.367265320
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001249 Asthma Zinc 3.0117085522
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
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:D001930 Brain Injuries Zinc 5.0017109824
MESH:D001943 Breast Neoplasms Tamoxifen 1.9419200415 11161223 15565566 17242785 15668708 18351453 19189212 17049068 18629630 16273361 17261762 17440819 18855134 20065188 18815881 19059307 19155303 19244106 19011961 18997820 20544844 18425577 19142967 16818667 21152245 19289846 16202921 19103187 19189210 19487384 20390343 18821012 17893378 19066611 19221464 16873071 20859285 21138602 19084267 18984771 19115204 20005174 19288272 19410462 20135344
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9420435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.8119066611
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.943084413
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 2.9416924424
MESH:D002294 Carcinoma, Squamous Cell Zinc 2.9516543248
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.8417572228
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 16120746 18670907
MESH:D002318 Cardiovascular Diseases Zinc 3.8216936243
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0516919318 17110522 17681005 15861022 11677210 17333356 16105132
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1915668235 15340226 12621046 8697196 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.7315322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Zinc 2.7319302082
MESH:D003711 Demyelinating Diseases Tamoxifen 4.6719031437
MESH:D003920 Diabetes Mellitus Zinc 4.4216479319
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6919279558
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7518713872 16781746 10774834 11529661 16109766 19416960 19370779 18071297 11834606 11461765 16485898 17906064 12392966 12153990 16177239 14986274 15619225 15968718 16081117 19739265 19923254 12540782 19085960 17522070 11743745 10663392 17562736 12705907 19164858 11421492 2444490 11287661 12958197 16227642 11739529 14550746 16393943 14725611 12594235 10915739 19420014
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7520420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2816714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.9012538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.9019031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1919155303 16202921 20544844 17893378
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D004938 Esophageal Neoplasms Zinc 2.9116543248
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5115345470
MESH:D005234 Fatty Liver Tamoxifen 8.5114986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3716709447
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.8714745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.5219069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D005756 Gastritis Acetaminophen 12.4616983495
MESH:D005756 Gastritis Zinc 12.4617241300
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006130 Growth Disorders Zinc 4.1017217573
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006333 Heart Failure Zinc 3.7417162251
MESH:D006335 Heart Injuries Zinc 6.1517074742
MESH:D016481 Helicobacter Infections Zinc 4.7917241300
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006527 Hepatolenticular Degeneration Zinc 12.3617276780
MESH:D006527 Hepatolenticular Degeneration Zinc Sulfate 12.3617063115
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4216354765 15340226 8697196 18606429 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007022 Hypotension Zinc Sulfate 4.737265320
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Tamoxifen 5.2619457130
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.2612200463 12878042
MESH:D007511 Ischemia Zinc 4.9416584753
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Acetaminophen 6.5812587719 15629191
MESH:D007674 Kidney Diseases Zinc 6.5816960431
MESH:D007676 Kidney Failure, Chronic Zinc 4.6616518626
MESH:D007680 Kidney Neoplasms Tamoxifen 3.2418625569
MESH:D016773 Leishmaniasis, Cutaneous Zinc Sulfate 4.4615237267
MESH:D008064 Lipidoses Tamoxifen 3.3215342952 17567588
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 2.3418564211
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3412878042
MESH:D008107 Liver Diseases Acetaminophen 1.6719014921 16611625 19784758 16610002 12969438 11587558 19460945 12587719
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4617185352 16871587
MESH:D008113 Liver Neoplasms Tamoxifen 4.6516684651
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008175 Lung Neoplasms Tamoxifen 2.3018625569
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3011884234 19555203
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.1019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 6.7311731420 19196722 14580682 16827153 19196723
MESH:D008325 Mammary Neoplasms, Experimental Zinc 6.7312773700
MESH:D020149 Manganese Poisoning Tamoxifen 4.9219453300
MESH:D008545 Melanoma Tamoxifen 1.9112393984 19393235
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.5215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6319393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5819410462
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.3819189210 19196722 19200415
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0718514411
MESH:D010146 Pain Acetaminophen 2.5916870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010661 Phenylketonurias marker/mechanism
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011225 Pre-Eclampsia Zinc 4.3617114810
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311399792 11118676 11896295 11222880
MESH:D011471 Prostatic Neoplasms Tamoxifen 3.3915067354
MESH:D011471 Prostatic Neoplasms Zinc 3.3916700911 16517595 16606632 12429649
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012162 Retinal Degeneration Zinc 4.3016584753
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 12.8516709447
MESH:D013088 Spermatocele Tamoxifen 12.8516709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.3819457130
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D014062 Tongue Neoplasms Zinc 4.6316543248
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 2.4317572228 8653321 16712894
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7815869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
KEGG:00790 Folate biosynthesis
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA34032
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA450428methotrexate
    Drug Bank Top
    Drugbank ID Action Drug Name Description
    DB03886 - Biopterin
    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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