AutismKB 2.0

Annotation Detail for STXBP5


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Basic Information Top
Gene Symbol:STXBP5 ( FLJ30922,LGL3,LLGL3,MGC141942,MGC141968,Nbla04300 )
Gene Full Name: syntaxin binding protein 5 (tomosyn)
Band: 6q24.3
Quick LinksEntrez ID:134957; OMIM: 604586; Uniprot ID:STXB5_HUMAN; ENSEMBL ID: ENSG00000164506; HGNC ID: 19665
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
HEMATOLOGICAL
plasma coagulation factors
Desease Name
Plasma coagulation factors
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of STXBP5 mRNAaffects expression 21346803
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of STXBP5 mRNAaffects expression 21346803
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of STXBP5 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of STXBP5 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of STXBP5 mRNAaffects expression 16483693
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of STXBP5 mRNAaffects expression 17484886
C099555 CD 437 CD 437 results in increased expression of STXBP5 proteinincreases expression 15059897
D016572 Cyclosporine Cyclosporine results in increased expression of STXBP5 mRNAincreases expression 20106945
D007657 Ketone Bodies Ketone Bodies results in decreased expression of STXBP5 mRNAdecreases expression 16807920
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of STXBP5 mRNAaffects binding|decreases expression|increases activity 19710929
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.187525203
MESH:D000138 Acidosis Ammonium Chloride 3.8018287403
MESH:D055371 Acute Lung Injury pirinixic acid 3.3018653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 3.7216434500
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001321 Autistic Disorder Acetaminophen 1.4118445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.3219483382
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9915673190 10355542 15721981 18705752 3786805 16192424 15700767 16011737 16227642 16050911 16097048 16124888
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 6.7416705839
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 6.7416705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 6.743084413
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.7418788625
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 7.7414694615
MESH:D002386 Cataract Acetaminophen 7.7410977129
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.966135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.9612371664
MESH:D002779 Cholestasis Cyclosporine 8.1819486331
MESH:D002779 Cholestasis pirinixic acid 8.1819176532
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.3115095906
MESH:D003490 Cyanosis 2,4-dinitrotoluene 11.6318551238
MESH:D003490 Cyanosis 2,6-dinitrotoluene 11.6318551238
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.4918249437
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 12.5218551238 21346803
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 12.5221346803 18551238
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 12.5221346803
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 12.5219923254 16227642 15968718 11834606 15619225 16781746 12540782 11461765 14986274 11287661 17522070 10663392 2444490 18713872 17562736 19416960 16109766 12705907 16485898 19739265 11739529 10915739 19370779 12153990 10774834 18071297 16393943 14725611 11529661 17906064 12392966 11421492 19085960 11743745 19420014 16177239 12958197 14550746 19164858 16081117 12594235
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 12.524309450 7120509 15968718 3732212 6623471 10092053 17522070 21278145 16227642 2869522 11566570 3786805 15998439 6884620 7440962 19336974 19085960 7179309 9327722 15027814 16177239 10915739
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004487 Edema pirinixic acid 2.6512083418
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.0719224547 12795759 17595544 15959796 16239168 12631006 61145 16045604
MESH:D005234 Fatty Liver Cyclosporine 14.0719224547
MESH:D005234 Fatty Liver pirinixic acid 14.0720131406 19236843
MESH:D005355 Fibrosis Carbon Tetrachloride 9.4018705752
MESH:D005355 Fibrosis Cyclosporine 9.4012168785 12639820
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.468708960
MESH:D006333 Heart Failure pirinixic acid 2.6320558911
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6615720958
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7919110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 3.2119772884 16221962 18467677 19176532
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7716899240
MESH:D006943 Hyperglycemia pirinixic acid 3.3420558911
MESH:D006973 Hypertension Cyclosporine 2.1510903974
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3015338365
MESH:D007333 Insulin Resistance pirinixic acid 2.7416306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.7115604871
MESH:D007674 Kidney Diseases Acetaminophen 6.1012587719 15629191
MESH:D007674 Kidney Diseases Cyclosporine 6.1018776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 13.2216705839
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.2216705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.2212371664
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8916239168 16221502 11408273 17174718 21278145 17334410 17157831 11903743 16943688
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 2.3716192424 12445418 16027843 17869086 12632514 12389079 17525996 18472332 18205269 18705752 17640975 16638106 12958196 12666154 15673190 15338365 18339082 15893842 12667390 17944888 17766677 18412020 15730626 18166357 18395095 17565644 17761835 17922224 18418968 15818738 15876570 14716496 18279442 18251166 17631135 17805973 12586293 18376398 17708605 11481614 15996030 18006644 18429990 15650968 18420326 15931870 12445421 14716833 10355542 17823541 12609069 14724832 17976157 18210741 12632512 15057751 12741479 12546737 15362042 16248980 18156304 15370692 15123356 15052691 18187930 17698563 16011737 16033810 13678700 12898905 17721639 18263696 16116963 12649538 16097048 17714472 16015684 18472094 15925388 14512876 17557913 18277467 16136751 18395914 18317297 15959796 20821823 14748882 18481824 18054572 14620537 17481882 17900296
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.3715474484
MESH:D008107 Liver Diseases Acetaminophen 4.0319784758 11587558 16610002 12969438 19014921 16611625 19460945 12587719
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0316964402 15720792 15830285 17285989 16246199
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3815123358
MESH:D017114 Liver Failure, Acute Acetaminophen 9.9517185352 16871587
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 9.9516899240 14706259
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.737678174
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 7.7319294768
MESH:D008113 Liver Neoplasms pirinixic acid 7.7320007298 15890375 16377806
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.262876786 2876784 6135515
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.2612014681 15583823
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0516801185
MESH:D009135 Muscular Diseases pirinixic acid 3.7216239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.0816411023
MESH:D009336 Necrosis 2,4-dinitrotoluene 11.1518551238
MESH:D009336 Necrosis 2,6-dinitrotoluene 11.1518551238 7678174
MESH:D009369 Neoplasms pirinixic acid 2.0217405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.7117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4419348381 18481113
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009765 Obesity pirinixic acid 1.8520558911
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 16.1216049721 12819281
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 16.1216049721
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 16.1214694615
MESH:D010051 Ovarian Neoplasms CD 437 3.3617474084
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D011230 Precancerous Conditions Cyclosporine 3.3712371664
MESH:D011565 Psoriasis Cyclosporine 2.2816882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.4619058328
MESH:D012640 Seizures 2,4-dinitrotoluene 6.2518551238
MESH:D012640 Seizures 2,6-dinitrotoluene 6.2518551238
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 8.7816049721
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 8.7816049721
MESH:D001749 Urinary Bladder Neoplasms CD 437 8.7816720286
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 12.8010091137
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 12.8010091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014605 Uveitis Cyclosporine 4.251336536
MESH:D014985 Xerophthalmia Cyclosporine 4.7117120751
No data
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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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