AutismKB 2.0

Annotation Detail for STXBP1


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Basic Information Top
Gene Symbol:STXBP1 ( FLJ37475,MUNC18-1,NSEC1,P67,RBSEC1,UNC18 )
Gene Full Name: syntaxin binding protein 1
Band: 9q34.11
Quick LinksEntrez ID:6812; OMIM: 602926; Uniprot ID:STXB1_HUMAN; ENSEMBL ID: ENSG00000136854; HGNC ID: 11444
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Synaptic Transmission
Diabetes pathways
Integration of energy metabolism
Pathway IDPathway Name
200160Effects of Botulinum toxin
Pathway IDPathway Name
P05734Synaptic vesicle trafficking
Pathway IDPathway Name
500153Acetylcholine Neurotransmitter Release Cycle
500147Neurotransmitter Release Cycle
500148Norepinephrine Neurotransmitter Release Cycle
500149Serotonin Neurotransmitter Release Cycle
500151Dopamine Neurotransmitter Release Cycle
500150Glutamate Neurotransmitter Release Cycle
Related Diseases/Disorders Top
No data
No data
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Desease Name
Epileptic encephalopathy, early infantile, 4
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C021296 2-ethoxyethanol 2-ethoxyethanol results in increased expression of STXBP1 mRNAincreases expression 19643169
C014949 acetylhydrazine acetylhydrazine results in decreased expression of STXBP1 mRNAdecreases expression 15282401
D000643 Ammonium Chloride Ammonium Chloride affects the expression of STXBP1 mRNAaffects expression 16483693
D003024 Clozapine Clozapine affects the expression of STXBP1 mRNAaffects expression 12437575
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of STXBP1 mRNAaffects cotreatment|increases expression 17942748
C005219 methyl cellosolve methyl cellosolve results in increased expression of STXBP1 mRNAincreases expression 19643169
D010126 Ozone Ozone results in decreased expression of STXBP1 mRNAdecreases expression 16330353
C006253 pirinixic acid pirinixic acid results in decreased expression of STXBP1 mRNAdecreases expression 17426115
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of STXBP1 mRNAaffects cotreatment|increases expression 17942748
D024505 Tocopherols Tocopherols results in increased expression of STXBP1 mRNAincreases expression 17654050
C025643 vinclozolin vinclozolin affects the expression of STXBP1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 2-ethoxyethanol 15.716499812 7151721 6499820 6499796 6499823
MESH:D000014 Abnormalities, Drug-Induced methyl cellosolve 15.713652986 6499812 6474471
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 15.7115322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.2718653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8414692618
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.5616434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.5616835633
MESH:D000380 Agranulocytosis Clozapine 5.2314617031 16160616 12649775
MESH:D000544 Alzheimer Disease Ozone 2.4615513908
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D000748 Anemia, Macrocytic methyl cellosolve 6.573699323
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001172 Arthritis, Rheumatoid Ozone 2.5815570426
MESH:D053627 Asthenozoospermia 2-ethoxyethanol 13.266499807 10689203 6499823
MESH:D053627 Asthenozoospermia methyl cellosolve 13.263987992
MESH:D001249 Asthma Ozone 2.6717854713 16373670
MESH:D001259 Ataxia 2-ethoxyethanol 5.607151721
MESH:D001284 Atrophy 2-ethoxyethanol 11.9615850284 6499799
MESH:D001284 Atrophy methyl cellosolve 11.962626667 6705890 3699323
MESH:D053713 Azoospermia 2-ethoxyethanol 5.756492198 6499807
MESH:D001724 Birth Weight 2-ethoxyethanol 6.736499823 2884743
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.2419483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.2412125929
MESH:D001836 Body Weight Changes 2-ethoxyethanol 12.777151721 6499796
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 12.7715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D016535 Bronchial Hyperreactivity Ozone 3.7915516495 18315731 17626835 18417511 19059883 16777450 14754758
MESH:D002100 Cachexia Ozone 4.9316183385
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 16120746 18850075
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002764 Cholecystitis 2-ethoxyethanol 14.396499794
MESH:D002764 Cholecystitis methyl cellosolve 14.396499794
MESH:D002779 Cholestasis Ethinyl Estradiol 8.0917110522 16919318 15861022 11677210 17333356 16105132 17681005
MESH:D002779 Cholestasis pirinixic acid 8.0919176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1516354765 15668235 8697196 15340226 12621046
MESH:D003072 Cognition Disorders Clozapine 5.1417123785
MESH:D000013 Congenital Abnormalities methyl cellosolve 9.8512530607 6499821
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 9.8517141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2620055451 15322242 10048152
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D003643 Death 2-ethoxyethanol 6.186499796
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4818249437
MESH:D003924 Diabetes Mellitus, Type 2 Clozapine 4.6116402076
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.6117107852
MESH:D006970 Disorders of Excessive Somnolence Clozapine 5.7715331141
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.5720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D050171 Dyslipidemias Clozapine 4.2816402076
MESH:D004487 Edema pirinixic acid 7.0012083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.0011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1218230668 16714409 15322242
MESH:D020964 Embryo Loss 2-ethoxyethanol 6.736499796
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D004831 Epilepsies, Myoclonic marker/mechanism 18469812
OMIM:612164 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 4 marker/mechanism
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.0115345470
MESH:D005234 Fatty Liver pirinixic acid 8.0120131406 19236843
MESH:D005313 Fetal Death 2-ethoxyethanol 11.446499823 7198755 6499820 7151721 2884743
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 11.4411858732
MESH:D005317 Fetal Growth Retardation 2-ethoxyethanol 5.576499796
MESH:D005327 Fetal Resorption 2-ethoxyethanol 13.416499820 6499812
MESH:D005327 Fetal Resorption methyl cellosolve 13.416499812 6499821 3987992 6474471
MESH:D020567 Fetal Weight 2-ethoxyethanol 14.396499820 7151721 2884743
MESH:D020567 Fetal Weight methyl cellosolve 14.396499821 6474471 6499812
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.1220067830
MESH:D005532 Foot Deformities, Congenital methyl cellosolve 5.643652986
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4010048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.6220558911
MESH:D006345 Heart Septal Defects, Ventricular methyl cellosolve 5.976499821
MESH:D006402 Hematologic Diseases 2-ethoxyethanol 5.5420172899 10514026
MESH:D006461 Hemolysis 2-ethoxyethanol 13.0819051582 17874071
MESH:D006461 Hemolysis methyl cellosolve 13.0817874071
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly pirinixic acid 8.8519772884 18467677 16221962 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.8515340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2616959395 15340226 16354765 18606429 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.3120558911
MESH:D006948 Hyperkinesis Clozapine 5.1016046005
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9518670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816945680 16569931
MESH:D007247 Infertility, Female 2-ethoxyethanol 10.906499823
MESH:D007247 Infertility, Female Ethinyl Estradiol 10.9012013081
MESH:D007248 Infertility, Male 2-ethoxyethanol 16.936499823
MESH:D007248 Infertility, Male Ethinyl Estradiol 16.9317937319
MESH:D007248 Infertility, Male methyl cellosolve 16.933987992
MESH:D007248 Infertility, Male vinclozolin 16.9316467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.7216306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D017880 Limb Deformities, Congenital methyl cellosolve 4.596499821
MESH:D008064 Lipidoses Clozapine 4.0617567588
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.1715474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.1712878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.4016377806 20007298 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.4016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.1912151625
MESH:D008171 Lung Diseases Ozone 3.478266340 19066396
MESH:D055370 Lung Injury Ozone 4.0220417186
MESH:D008175 Lung Neoplasms Ozone 2.417614698 8597069
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4111884234 19555203
MESH:D008231 Lymphopenia methyl cellosolve 5.973699323
MESH:D008325 Mammary Neoplasms, Experimental Tocopherols 4.1617927505
MESH:D001523 Mental Disorders Clozapine 4.1416856516
MESH:D008654 Mesothelioma Tocopherols 4.1515878867
MESH:D024821 Metabolic Syndrome X Clozapine 4.5319142101
MESH:D008679 Metaplasia Ozone 5.3210496685
MESH:D009135 Muscular Diseases pirinixic acid 3.6816239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.1919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0516411023
MESH:D009336 Necrosis 2-ethoxyethanol 5.5420172899
MESH:D009369 Neoplasms pirinixic acid 2.0117405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.3714600291
MESH:D009765 Obesity Clozapine 4.8018515891 19142110
MESH:D009765 Obesity pirinixic acid 4.8020558911
MESH:D009845 Oligospermia 2-ethoxyethanol 12.0420172899
MESH:D009845 Oligospermia methyl cellosolve 12.043987992
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010538 Peritonitis Ozone 4.3116369182
MESH:D011014 Pneumonia Ozone 4.5918381685 18007984 18929643
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011297 Prenatal Exposure Delayed Effects 2-ethoxyethanol 25.092884743 7198755 6499817
MESH:D011297 Prenatal Exposure Delayed Effects methyl cellosolve 25.097974496 6499817 12530607
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 25.0911896295 11118676 11399792 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 25.0918042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011471 Prostatic Neoplasms Tocopherols 4.5812504091
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.5116919318 15861022
MESH:D011618 Psychotic Disorders Clozapine 4.2815331141
MESH:D015427 Reperfusion Injury pirinixic acid 2.4519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012559 Schizophrenia Clozapine 2.7520168265 20107430 20521320 20521326 11151749 11763009 19369910 16141801 18806925 20580759 17123785 17667964 20452607 17726453 18855531
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D013276 Stomach Ulcer 2-ethoxyethanol 4.526499799
MESH:D013733 Testicular Diseases 2-ethoxyethanol 11.726499806 10048760 10514026
MESH:D013733 Testicular Diseases methyl cellosolve 11.726499806
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D015430 Weight Gain Clozapine 4.5920521320 16141801 20564506 17502770 16402076 20107430
MESH:D015431 Weight Loss Clozapine 5.2717933447
Pathway ID Pathway Name
REACT:15380 Diabetes pathways
REACT:1505 Integration of energy metabolism
REACT:13685 Synaptic Transmission
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA36241
    • No data
    No data
    Releated drug ID Related drug Name
    PA451898vitamin c
    PA10090l-glutamine
    PA450197l-leucine
    PA448976choline
    PA449396dopamine
    Drug Bank Top

    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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