AutismKB 2.0

Annotation Detail for SPR


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Basic Information Top
Gene Symbol:SPR ( SDR38C1 )
Gene Full Name: sepiapterin reductase (7,8-dihydrobiopterin:NADP+ oxidoreductase)
Band: 2p13.2
Quick LinksEntrez ID:6697; OMIM: 182125; Uniprot ID:SPRE_HUMAN; ENSEMBL ID: ENSG00000116096; HGNC ID: 11257
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
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Related Diseases/Disorders Top
No data
Desease IDDesease Name
1709Parkinson disease
1715Myotonic disorder
Desease Name
Parkinson's disease
NEUROLOGICAL
No data
Desease Name
Dystonia, dopa-responsive, due to sepiapterin reductase deficiency
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of SPR mRNAdecreases expression 18648102
D000638 Amiodarone Amiodarone results in increased expression of SPR mRNAincreases expression 19774075
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SPR mRNAaffects expression 16483693
D004317 Doxorubicin SPR protein affects the susceptibility to Doxorubicinaffects response to substance 16217747
D010634 Phenobarbital Phenobarbital results in increased expression of SPR mRNAincreases expression 19270015
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 3.986195326
MESH:D000138 Acidosis Ammonium Chloride 4.1018287403
MESH:D000230 Adenocarcinoma Doxorubicin 2.6317418594
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D018248 Adenoma, Liver Cell Phenobarbital 4.5117620307
MESH:D000419 Albuminuria Doxorubicin 4.9821441931
MESH:D001145 Arrhythmias, Cardiac Amiodarone 4.1520041841 18218290 18057881
MESH:D001281 Atrial Fibrillation Amiodarone 4.1619698954 18651412
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.631440618 11289319
MESH:D001778 Blood Coagulation Disorders Amiodarone 4.2719483382
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.3114601052
MESH:D001932 Brain Neoplasms Doxorubicin 4.1617150277
MESH:D001943 Breast Neoplasms Doxorubicin 2.5817369602 18628466 11325840 16595493 17426702 16935488 16115903 16264153 15668708 15692762 18234424 15634643 16096432 18382427 17983394 15994142 16322301 15136595 15939500 16826403 18695136 15567936 15993339 19526202
MESH:D002276 Carcinoid Tumor Doxorubicin 5.4216051944
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 4.893581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 4.8916234567 16023760 17876044 18059187
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 4.8920007298 6705139 17173139 20935162 1701930
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 7.027296757
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 7.021485588 16201981
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 2.716189445
MESH:D009202 Cardiomyopathies Doxorubicin 3.7415505089 16455267 16731534 17382496 16278810 16242529 16952015 17928571 17974986 17329180 17924179 16364871 16269455 17308081 17351982 15811867 16109756 17519947 16651473 17131338 18627295 15792986 15476868 16612575 17007740
MESH:D002311 Cardiomyopathy, Dilated Amiodarone 6.3019225199 15710769
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 6.3017334414 16243910
MESH:D002341 Carotid Artery Thrombosis Amiodarone 5.6218974383
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 2.997505956
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.744080065
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.419022650 19486331
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1518802399 18259882
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.2818759878 11906362 8156756 14531868 11298694 8970840 12868966 2524372
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.892952479 3621924
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.8518289764 16192314 6482804 6679447 8291058 9653073 18648102 9328219 9022650 7440962 18692083 1440618 11289319
MESH:D056486 Drug-Induced Liver Injury Amiodarone 6.8518218290 15265979
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 6.8517416283
MESH:D004362 Drug Toxicity Doxorubicin 3.9318602426
MESH:D004421 Dystonia Phenobarbital 4.411851702
OMIM:612716 DYSTONIA, DOPA-RESPONSIVE, DUE TO SEPIAPTERIN REDUCTASE DEFICIENCY marker/mechanism
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.6717359293
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 5.7718037988
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.593659116
MESH:D004828 Epilepsies, Partial Phenobarbital 4.483922381 11558140
MESH:D004827 Epilepsy Phenobarbital 3.0420417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.876401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.747750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.563659116
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.173581430
MESH:D005234 Fatty Liver Amiodarone 3.8914986274
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 5.1319069698
MESH:D005909 Glioblastoma Doxorubicin 3.5617150277
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.7515692506
MESH:D006331 Heart Diseases Doxorubicin 3.7212587719 16244372 16879835 17875725 14766674 16495754 16707910 18006777 18674790 16330681 16244371 17888722 16144979
MESH:D006333 Heart Failure Doxorubicin 3.5417481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.2715692506
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006529 Hepatomegaly Amiodarone 10.4215265979
MESH:D006529 Hepatomegaly Phenobarbital 10.4216109766
MESH:D006689 Hodgkin Disease Doxorubicin 3.7315147373 18501091 17606976
MESH:D006937 Hypercholesterolemia Amiodarone 4.259751232 8137927
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D007037 Hypothyroidism Amiodarone 5.0018020914 17991464
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.638074119 9022650
MESH:D007674 Kidney Diseases Doxorubicin 3.2316775033 15369732 15699352
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.5316707910
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.276582329
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 5.7716085563
MESH:D008064 Lipidoses Amiodarone 3.7615342952 17567588
MESH:D008103 Liver Cirrhosis Phenobarbital 3.0721047994
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4015034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.1516439617 16595196
MESH:D008107 Liver Diseases Phenobarbital 2.2319363144
MESH:D008113 Liver Neoplasms Phenobarbital 2.418742319 19482888 19073162 19812893 15975961 21047994
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 11.13598648 6587162 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 11.1316842330 17085340
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 11.131399818 6150874 17172636 2563599 18308698
MESH:D008133 Long QT Syndrome Amiodarone 3.8515350150 17391786 11989578
MESH:D008171 Lung Diseases Amiodarone 3.6012587719
MESH:D017563 Lung Diseases, Interstitial Amiodarone 5.0918516814
MESH:D008175 Lung Neoplasms Doxorubicin 2.1517418594 6189445
MESH:D008223 Lymphoma Doxorubicin 3.7016098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 4.0917654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 5.0515621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.2415458769
MESH:D008545 Melanoma Doxorubicin 2.3216827129
MESH:D008654 Mesothelioma Doxorubicin 3.1717638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.8715792986
MESH:D052016 Mucositis Doxorubicin 5.3317415656
MESH:D009181 Mycoses Amiodarone 5.5117974566 12754197
MESH:D009203 Myocardial Infarction Doxorubicin 3.0715857846 19429709
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 5.0217484760
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 6.233581430
MESH:D009362 Neoplasm Metastasis Doxorubicin 6.2318259882
MESH:D009401 Nephrosis Doxorubicin 5.2516899518 16636307
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.3316889571 15640375
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.136679447
MESH:D009447 Neuroblastoma Doxorubicin 3.4215555623
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.774026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D010018 Osteomalacia Phenobarbital 4.9017016548
MESH:D012516 Osteosarcoma Doxorubicin 4.4015930896
MESH:D010190 Pancreatic Neoplasms Phenobarbital 2.5916965848
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D003557 Phyllodes Tumor Doxorubicin 5.7717983394
MESH:D010997 Pleural Neoplasms Doxorubicin 5.7717638057
MESH:D011230 Precancerous Conditions Phenobarbital 3.952563599
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.5016888761 15749863 15897917 18437689 16729912 16868541
MESH:D019310 Pseudolymphoma Phenobarbital 5.1112752131
MESH:D011658 Pulmonary Fibrosis Amiodarone 2.9612832656 11597910 12490602
MESH:D051437 Renal Insufficiency Doxorubicin 4.7017922066
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D012509 Sarcoma Doxorubicin 4.3417203757 15625365 15675481 17710206 16767912 18313854
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.6814601052 16326096
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.3317846226
MESH:D012640 Seizures Phenobarbital 2.924039156 16876388 11442880 3137016
MESH:D003294 Seizures, Febrile Phenobarbital 5.366407741
OMIM:609620 SHORT QT SYNDROME 1 Amiodarone 5.6218724381
MESH:D012878 Skin Neoplasms Doxorubicin 3.0915692506
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 5.0515625365 17203757 16767912
MESH:D013276 Stomach Ulcer Amiodarone 3.6818087811
MESH:D013610 Tachycardia Amiodarone 4.7311238279
MESH:D017180 Tachycardia, Ventricular Amiodarone 4.6319225199
MESH:D013959 Thyroid Diseases Amiodarone 5.3719731979
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 13.631399818 6587162 6582329 3712494 7505956
MESH:D013964 Thyroid Neoplasms Doxorubicin 13.6316010429 17909728
MESH:D013964 Thyroid Neoplasms Phenobarbital 13.631399818
MESH:D013971 Thyrotoxicosis Amiodarone 5.3418020914 19584973
MESH:D016171 Torsades de Pointes Amiodarone 4.7311989578 17467628
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.578074119
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 5.5717653716
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.7016364871 17638931 17334414 17678736
Pathway ID Pathway Name
KEGG:00790 Folate biosynthesis
KEGG:01100 Metabolic pathways
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB02637 - Oxaloacetate Ion
DB03461 - 2'-Monophosphoadenosine 5'-Diphosphoribose
DB03886 - Biopterin
DB04275 - N-Acetyl Serotonin
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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