AutismKB 2.0

Annotation Detail for SEPHS1


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Basic Information Top
Gene Symbol:SEPHS1 ( MGC4980,SELD,SPS,SPS1 )
Gene Full Name: selenophosphate synthetase 1
Band: 10p13
Quick LinksEntrez ID:22929; OMIM: 600902; Uniprot ID:SPS1_HUMAN; ENSEMBL ID: ENSG00000086475; HGNC ID: 19685
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
PWY-6281selenocysteine biosynthesis II (archaea and eukaryotes)
Pathway IDPathway Name
hsa00450Selenoamino acid metabolism
hsa01100Metabolic pathways
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No data
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Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SEPHS1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of SEPHS1 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 SEPHS1 mRNAdecreases expression 19150397
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of SEPHS1 mRNAdecreases expression 15336504
D005472 Fluorouracil SEPHS1 protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
C076818 selenophosphate SEPHS1 protein results in increased chemical synthesis of selenophosphateincreases chemical synthesis 15121905
D018038 Sodium Selenite Sodium Selenite results in increased expression of SEPHS1 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of SEPHS1 mRNAdecreases expression 18495758
D014635 Valproic Acid Valproic Acid results in decreased expression of SEPHS1 mRNAdecreases expression 19101580
D014810 Vitamin E Vitamin E results in increased expression of SEPHS1 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.1115322242 14514962 11752688
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000230 Adenocarcinoma Fluorouracil 2.4617638652
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6116835633
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000740 Anemia Fluorouracil 9.2315504547 17963324 16511603
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.2311748828
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.7117497229
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8618177632 18396377 15238991 17688650 18985861 17507914 18775368 18940202 18558336 18316065 20603192 19232924 16609825 19460635 17157402
MESH:D001714 Bipolar Disorder Valproic Acid 3.1520046352 17594078
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2112125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 8.3715746008
MESH:D001848 Bone Diseases, Developmental Valproic Acid 8.378888407
MESH:D001943 Breast Neoplasms Fluorouracil 2.0415136595 18357371 16595493 18608205 16557594 16110121 19217205
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0420435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1516050911
MESH:D002276 Carcinoid Tumor Fluorouracil 4.9316051944
MESH:D002277 Carcinoma Fluorouracil 8.6517121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.6516835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.6816705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 4.683084413
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 4.6816332177 16799960 18930000 17971768 17045692 17088986
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.0918695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5316280240 17066447 16757204 18986760
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518850075 16120746 18670907
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 7.036135515
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.0320889678
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D019457 Chromosome Breakage Sodium Selenite 4.9715894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.168697196 15340226 12621046 16354765 15668235
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2617018589 17172411 17016597 16340194 17169374 15001691 17287894 16510598 17725105 18772588
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0017255274 17454858 16524972 18383874 17695437 15148649 18448328 18288408 16391804 16282729 14970324 17594712 20501625 18802399 15289873 17016601 17401013 17094418 16303861 16331619 18949393 18509181
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.8610048152 15322242 20055451
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.8617688650 8888407 16575769
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.8619769572
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.2318551238
MESH:D007644 Darier Disease Fluorouracil 5.0316733453
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9316285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7017107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.5118551238 21346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5115968718 17906064 12540782 12705907 10774834 10915739 12594235 12153990 11743745 10663392 2444490 11461765 14550746 19416960 16177239 16227642 15619225 14725611 16109766 14986274 12958197 11834606 11421492 16781746 17562736 18713872 11529661 19739265 12392966 18071297 11739529 11287661 16081117 16485898 16393943 17522070 19420014 19923254 19085960 19370779 19164858
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 12.5115131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 12.5120420201
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 12.511733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:C538011 Eales disease Vitamin E 4.979068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.1810568697 9294722
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3717275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.183922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.746254150 6426943 7562514
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 4.6416785472 15173087 17638652 16337965 16481741
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Valproic Acid 3.4719224547 14986274
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.338888407 18558336
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1620067830
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005910 Glioma Fluorouracil 2.9316145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5015102660 15162350 18337622
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8510048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.8516080930
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1112621046 16120746 15340226
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7516863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.2414716179
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3115340226 16959395 18606429 16354765 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9312200463 12878042
MESH:D007251 Influenza, Human Vitamin E 4.4816624496
MESH:D007333 Insulin Resistance Sodium Selenite 3.3814714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Acetaminophen 6.2712587719 15629191
MESH:D007674 Kidney Diseases Vitamin E 6.2712488133
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.9716705839
MESH:D007680 Kidney Neoplasms Fluorouracil 7.9716985049
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.1716294345 17596541
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.3812878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.3816169303
MESH:D008107 Liver Diseases Acetaminophen 1.6619460945 12587719 16610002 11587558 19014921 16611625 19784758 12969438
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4016871587 17185352
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.757678174
MESH:D008113 Liver Neoplasms Fluorouracil 7.7518383874 17045692 16603448 15113037
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7516984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.072876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0712151625
MESH:D008171 Lung Diseases Vitamin E 3.2916863852
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D008175 Lung Neoplasms Fluorouracil 3.5115246190
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5119555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 3.5111062179
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.0315086387
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.2414737004
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008881 Migraine Disorders Valproic Acid 3.3118765137 18803445
MESH:D009062 Mouth Neoplasms Fluorouracil 3.7618986760 16757204
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.2417596541
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.107678174 18551238
MESH:D009369 Neoplasms Fluorouracil 2.6816928823 18600527 18239605
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4114600291
MESH:D009436 Neural Tube Defects Valproic Acid 3.2316359493 8888407
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5516436463
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5916049721
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7215113037 16929163 19003803 16500647
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2711399792 11118676 11222880 11896295
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 10.2720603192
MESH:D011471 Prostatic Neoplasms Fluorouracil 2.5918626508 19082440
MESH:D011471 Prostatic Neoplasms Sodium Selenite 2.5918760546
MESH:D011471 Prostatic Neoplasms Vitamin E 2.5915084515
MESH:D019310 Pseudolymphoma Valproic Acid 4.8111422049 12752131
MESH:D012004 Rectal Neoplasms Fluorouracil 4.1615538739 16160472 18722050 18286688
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures 2,6-dinitrotoluene 6.3218551238
MESH:D012640 Seizures Valproic Acid 6.323137016 14763951 11738929 16876388 1511512 17978042 15475178 11044598
MESH:D012871 Skin Diseases Vitamin E 2.4818709164
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 5.838532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8316192470
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0018567086 17522103 16951190 19084572 19015929 15786421 16424979 18396642 17498489 17172411
MESH:D020521 Stroke Vitamin E 3.6616517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
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:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 2.3416049721
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5610091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.0416803524
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
KEGG:01100 Metabolic pathways
KEGG:00450 Selenocompound metabolism
Pharmacogenomics Knowledge Base Top
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  (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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