AutismKB 2.0

Annotation Detail for SPEG


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Basic Information Top
Gene Symbol:SPEG ( APEG1,BPEG,KIAA1297,MGC12676,SPEGalpha,SPEGbeta )
Gene Full Name: SPEG complex locus
Band: 2q35
Quick LinksEntrez ID:10290; OMIM: NA; Uniprot ID:SPEG_HUMAN; ENSEMBL ID: ENSG00000072195; HGNC ID: 16901
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1918Atherosclerosis
No data
No data
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of SPEG mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SPEG mRNAaffects expression 16483693
D002330 Carmustine Carmustine results in decreased expression of SPEG mRNAdecreases expression 15980968
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SPEG mRNAaffects cotreatment|increases expression 17942748
D004997 Ethinyl Estradiol Ethinyl Estradiol results in decreased expression of SPEG mRNAdecreases expression 17557909
D005419 Flavonoids Flavonoids results in increased expression of SPEG mRNAincreases expression 18035473
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SPEG mRNAaffects cotreatment|increases expression 17942748
C025643 vinclozolin vinclozolin affects the expression of SPEG mRNAaffects expression 19015723
D014810 Vitamin E Vitamin E results in increased expression of SPEG mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.9018287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8614692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001008 Anxiety Disorders vinclozolin 3.8319015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
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:D001932 Brain Neoplasms Carmustine 4.6116187019
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2416050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.393084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918850075 16120746 18670907
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0516105132 15861022 16919318 17333356 17681005 17110522 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1916354765 8697196 12621046 15340226 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5415322242 20055451 10048152
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5419769572
MESH:D003456 Cryptorchidism vinclozolin 4.6214966744
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7510774834 14986274 15619225 19739265 19420014 18713872 16177239 15968718 16109766 14550746 16393943 11529661 12958197 17906064 16081117 18071297 12594235 17522070 2444490 11739529 19164858 11834606 19085960 11421492 17562736 19416960 16485898 16227642 19370779 11743745 12392966 10915739 19923254 11461765 14725611 16781746 10663392 12153990 12540782 12705907 11287661
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:C538011 Eales disease Vitamin E 5.089068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2510568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.0515345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2520067830
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.2716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.6816417039
MESH:D005909 Glioblastoma Carmustine 4.0716187019
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9511294989 10048152
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9516080930
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7716863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.3514716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4216959395 18606429 16354765 15340226 8697196
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.1717937319
MESH:D007248 Infertility, Male vinclozolin 7.1716467254
MESH:D007249 Inflammation Flavonoids 5.3717296493
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.3712200463 12878042
MESH:D007251 Influenza, Human Vitamin E 4.5916624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Acetaminophen 6.3912587719 15629191
MESH:D007674 Kidney Diseases Vitamin E 6.3912488133
MESH:D007984 Leydig Cell Tumor vinclozolin 5.0716417039
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.4012878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 2.4016169303
MESH:D008107 Liver Diseases Acetaminophen 1.6716610002 12587719 19014921 16611625 11587558 19460945 12969438 19784758
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4616871587 17185352
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008171 Lung Diseases Vitamin E 3.3316863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3619555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 2.3611062179
MESH:D008545 Melanoma Carmustine 2.8912393984
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
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:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.6411118676 11896295 11399792 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.6418042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.2718220299
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2615084515
MESH:D011472 Prostatitis vinclozolin 5.2718629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012871 Skin Diseases Vitamin E 2.4918709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D020521 Stroke Vitamin E 3.7116517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
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 3.7814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
No data
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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