AutismKB 2.0

Annotation Detail for SMARCB1


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMARCB1 ( BAF47,INI1,RDT,RTPS1,SNF5,SNF5L1,Sfh1p,Snr1,hSNFS )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily b, member 1
Band: 22q11.23
Quick LinksEntrez ID:6598; OMIM: 601607; Uniprot ID:SNF5_HUMAN; ENSEMBL ID: ENSG00000099956; HGNC ID: 11103
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
No data
Pathway IDPathway Name
200191Regulation of retinoblastoma protein
Pathway IDPathway Name
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1809HIV infection
1934Cancer
2035Brain disease
Desease Name
CANCER
Rhabdoid predisposition syndrome
rhabdoid tumors
No data
Desease Name
Rhabdoid tumors
Rhabdoid predisposition syndrome 1
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of SMARCB1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of SMARCB1 mRNAaffects expression 17562736
C006632 arsenic trioxide arsenic trioxide results in increased expression of SMARCB1 mRNAincreases expression 20458559
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of SMARCB1 mRNAincreases expression 20504355
D002251 Carbon Tetrachloride Carbon Tetrachloride affects the expression of SMARCB1 mRNAaffects expression 17484886
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of SMARCB1 mRNAaffects expression 17555576
D008070 Lipopolysaccharides Lipopolysaccharides results in increased expression of SMARCB1 mRNAincreases expression 12057914
C406082 monomethylarsonous acid monomethylarsonous acid results in increased expression of SMARCB1 mRNAincreases expression 20024957
D013629 Tamoxifen Tamoxifen affects the expression of SMARCB1 mRNAaffects expression 17555576
D014635 Valproic Acid Valproic Acid results in decreased expression of SMARCB1 mRNAdecreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Tamoxifen 4.8114745880
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 3.728875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.1019490988
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.2117505938
MESH:D055371 Acute Lung Injury Lipopolysaccharides 4.2118653653 11850527
MESH:D000230 Adenocarcinoma arsenic trioxide 7.2519825857 11798837
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.2520127859 20464547
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.2514692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.746695378
MESH:D000550 Amblyopia Valproic Acid 5.5017688650
MESH:D000799 Angioedema Acetaminophen 4.1110982225
MESH:D001008 Anxiety Disorders Valproic Acid 3.7117497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.2919183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7615885639
MESH:D001321 Autistic Disorder Acetaminophen 1.8618445737
MESH:D001321 Autistic Disorder Valproic Acid 1.8617507914 18177632 17157402 20603192 17688650 15238991 18396377 18985861 19232924 18316065 19460635 16609825 18775368 18558336 18940202
MESH:D001714 Bipolar Disorder Valproic Acid 3.1517594078 20046352
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 3.8416206674
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.518888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0620146248 17474063
MESH:D001943 Breast Neoplasms Tamoxifen 2.0617261762 15668708 19155303 19189210 19142967 19115204 20390343 17893378 16202921 20544844 17049068 21152245 18997820 19011961 18821012 19221464 18425577 18815881 18629630 20135344 20065188 20859285 16818667 19200415 19066611 19084267 20005174 11161223 19244106 19189212 18984771 16873071 17440819 15565566 19410462 17242785 19059307 18855134 21138602 16273361 19103187 18351453 19289846 19288272 19487384
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.5111589617
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9916124888 15700767 16011737 16050911 16097048 15673190 10355542 16227642 18705752 3786805 15721981 16192424
MESH:D018270 Carcinoma, Ductal, Breast Tamoxifen 4.7219066611
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 9.1216705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 9.123084413
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 9.1215073043 15553829 11135700 14691202 16217749
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 9.1218788625
MESH:D006528 Carcinoma, Hepatocellular Tamoxifen 9.1216924424
MESH:D002291 Carcinoma, Papillary arsenic trioxide 5.1419014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.2812490120
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.0920419170
MESH:D002295 Carcinoma, Transitional Cell Tamoxifen 3.7817572228
MESH:D002386 Cataract Acetaminophen 2.6710977129
MESH:D002471 Cell Transformation, Neoplastic monomethylarsonous acid 4.0419716837
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7620734317
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0016105132 15861022 16919318 17110522 17681005 17333356 11677210
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D023903 Coronary Restenosis arsenic trioxide 4.3812609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.7510525206
MESH:D019465 Craniofacial Abnormalities Valproic Acid 2.7516575769 17688650 8888407
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.2318551238
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.2815213294
MESH:D003711 Demyelinating Diseases Tamoxifen 4.5819031437
MESH:D003928 Diabetic Nephropathies Tamoxifen 3.6319279558
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 9.3521346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 9.3516081117 12705907 15619225 11287661 14986274 19416960 16227642 17522070 17562736 12153990 11529661 10915739 12594235 14725611 19164858 17906064 14550746 10663392 18713872 11421492 19420014 18071297 16393943 12958197 12392966 16781746 16485898 11461765 11739529 19739265 11743745 11834606 16177239 19085960 16109766 15968718 12540782 2444490 19923254 10774834 19370779
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 9.3515968718 2869522 4309450 19336974 9327722 21278145 6623471 7120509 7440962 7179309 19085960 15027814 16177239 10915739 15998439 6884620 17522070 10092053 16227642 3786805 3732212 11566570
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 9.351733752 19641884
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.3619426721
MESH:D004421 Dystonia Valproic Acid 4.231851702
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 9.6212538720
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Tamoxifen 9.6219031437
MESH:D016889 Endometrial Neoplasms Tamoxifen 3.1517893378 16202921 19155303 20544844
MESH:D019446 Endotoxemia Lipopolysaccharides 4.6315328337 17637181 15821434
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.373659116 17275665
MESH:D004828 Epilepsies, Partial Valproic Acid 4.1816628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.0118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.746254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.517750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.303659116
MESH:D004938 Esophageal Neoplasms arsenic trioxide 4.5612903497
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.5616530937
MESH:D005234 Fatty Liver arsenic trioxide 26.6215073043
MESH:D005234 Fatty Liver Carbon Tetrachloride 26.6216239168 15959796 12795759 12631006 61145 19224547 17595544 16045604
MESH:D005234 Fatty Liver Ethinyl Estradiol 26.6215345470
MESH:D005234 Fatty Liver Tamoxifen 26.6219224547 14986274
MESH:D005234 Fatty Liver Valproic Acid 26.6214986274 19224547
MESH:D052776 Female Urogenital Diseases Tamoxifen 3.3316709447
MESH:D005315 Fetal Diseases Valproic Acid 5.1516575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.338888407 18558336
MESH:D005334 Fever Lipopolysaccharides 4.179205823 11852909
MESH:D018221 Fibromatosis, Abdominal Tamoxifen 4.7614745880
MESH:D018222 Fibromatosis, Aggressive Tamoxifen 4.4219069698
MESH:D005355 Fibrosis Carbon Tetrachloride 3.6718705752
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.4616904648
MESH:D005756 Gastritis Acetaminophen 3.9416983495
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.7420471113
MESH:D006463 Hemolytic-Uremic Syndrome Lipopolysaccharides 4.5516366002
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7919110552 19900420
MESH:D006849 Hydrocephalus Valproic Acid 5.1017688650
MESH:D006930 Hyperalgesia Acetaminophen 2.8416870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7716899240
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3015338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.0216945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6512013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5917937319
MESH:D007249 Inflammation Lipopolysaccharides 5.5417963957 9205823 12878042 17237260 17255318
MESH:D007249 Inflammation Tamoxifen 5.5419457130
MESH:D019189 Iron Metabolism Disorders Lipopolysaccharides 4.8117255318
MESH:D007674 Kidney Diseases Acetaminophen 2.2915629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 7.8716705839
MESH:D007680 Kidney Neoplasms Tamoxifen 7.8718625569
MESH:D007938 Leukemia arsenic trioxide 2.9115070760
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.9712560223 17077332
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.5416972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.5514633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.9319077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 4.0019850784 17050201 16968895 16467208 20471514
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 4.0017596541 16294345
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.3217649720 15748426 16891316 19035177 16823087 17712046 15213294 12712474 11468182 9834237 16112521 15336539 19075265 11161223 15622746 12679006 17107899 16331271 16966277 17869043 12018890 17217047 19225113 16330433 19642359
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.5516882451
MESH:D007970 Leukopenia Lipopolysaccharides 4.9315821434
MESH:D008064 Lipidoses Tamoxifen 3.2715342952 17567588
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8916943688 16221502 17334410 11903743 11408273 21278145 16239168 17174718 17157831
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.6710355542 14716833 12741479 17922224 17761835 17944888 15876570 12445418 18429990 18317297 18279442 16638106 15123356 18263696 17631135 17823541 16033810 12666154 12586293 17869086 12632512 18472332 12958196 12546737 12445421 17481882 15996030 12389079 16192424 14512876 18205269 14748882 13678700 17565644 16097048 16136751 15338365 18472094 17640975 12898905 18187930 12632514 18418968 15730626 17805973 18277467 18339082 15057751 17766677 18420326 18210741 15925388 18156304 12609069 16027843 12649538 15362042 15673190 17525996 17976157 17900296 15959796 17708605 18251166 12667390 15818738 16248980 17698563 17721639 15893842 15052691 18395914 18395095 14620537 18705752 18166357 14724832 16116963 18412020 18006644 20821823 15370692 18054572 15931870 14716496 16011737 18376398 16015684 11481614 17714472 17557913 18481824 15650968
MESH:D008106 Liver Cirrhosis, Experimental Lipopolysaccharides 3.6712878042
MESH:D008106 Liver Cirrhosis, Experimental Tamoxifen 3.6718564211
MESH:D008107 Liver Diseases Acetaminophen 4.0316610002 11587558 16611625 19460945 12969438 19784758 19014921 12587719
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.0315720792 15830285 17285989 16246199 16964402
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 arsenic trioxide 11.2014682389
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.2020195826 21137059
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 11.2019294768
MESH:D008113 Liver Neoplasms Tamoxifen 11.2016684651
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 6.3320377131
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.3312014681 15583823
MESH:D008133 Long QT Syndrome arsenic trioxide 3.4815213294
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.5317228818
MESH:D055370 Lung Injury Lipopolysaccharides 4.2221114838
MESH:D008175 Lung Neoplasms arsenic trioxide 3.5211798837 19825857
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.526695378 20064080 18520028 18816296 20135361 20869020 17053015 18569708 20464547
MESH:D008175 Lung Neoplasms Tamoxifen 3.5218625569
MESH:D015674 Mammary Neoplasms, Animal Tamoxifen 4.0019428831
MESH:D008325 Mammary Neoplasms, Experimental Tamoxifen 2.7311731420 19196722 14580682 16827153 19196723
MESH:D020149 Manganese Poisoning Tamoxifen 4.8119453300
MESH:D008545 Melanoma Tamoxifen 1.9019393235 12393984
MESH:D018328 Melanoma, Amelanotic Tamoxifen 4.4215990972
MESH:D008546 Melanoma, Experimental Acetaminophen 3.7819513568
MESH:D008881 Migraine Disorders Valproic Acid 3.3118765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3216381670
MESH:D009101 Multiple Myeloma arsenic trioxide 3.2214977855 15949261 19417148 11468182 19549372
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.208888407
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.9418349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 7.7216105982 16882451
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.7217596541
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.0918551238
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 4.1616624393
MESH:D009362 Neoplasm Metastasis Tamoxifen 2.6019393235
MESH:D009364 Neoplasm Recurrence, Local Tamoxifen 2.5619410462
MESH:D009369 Neoplasms Benzo(a)pyrene 2.2411141357
MESH:D009376 Neoplasms, Hormone-Dependent Tamoxifen 4.2619189210 19196722 19200415
MESH:D009436 Neural Tube Defects arsenic trioxide 7.6910525206
MESH:D009436 Neural Tube Defects Valproic Acid 7.698888407 16359493
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0118514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.5912819281 16049721
MESH:D010051 Ovarian Neoplasms arsenic trioxide 2.4519769630 16624393 12452020
MESH:D010146 Pain Acetaminophen 2.5316870215
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 2.5815580305
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8711578682
MESH:D010235 Paraganglioma arsenic trioxide 4.3519927285
MESH:D011014 Pneumonia Lipopolysaccharides 4.7912224865 11605937
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.0720603192
MESH:D011471 Prostatic Neoplasms arsenic trioxide 2.5019131511
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.5017292933
MESH:D011471 Prostatic Neoplasms Tamoxifen 2.5015067354
MESH:D011537 Pruritus Ethinyl Estradiol 3.5516919318 15861022
MESH:D019310 Pseudolymphoma Valproic Acid 4.8111422049 12752131
MESH:D012130 Respiratory Hypersensitivity Lipopolysaccharides 3.8410835634
OMIM:609322 RHABDOID TUMOR PREDISPOSITION SYNDROME 1 marker/mechanism
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.3619155313
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 4.1616646077
MESH:D012559 Schizophrenia Valproic Acid 2.0919110320 15737665
MESH:D012640 Seizures 2,4-dinitrotoluene 6.3218551238
MESH:D012640 Seizures Valproic Acid 6.3216876388 11738929 14763951 3137016 15475178 11044598 17978042 1511512
MESH:D012871 Skin Diseases monomethylarsonous acid 3.4117431481
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.4410029692 19755658
MESH:D013088 Spermatocele Ethinyl Estradiol 12.4616709447
MESH:D013088 Spermatocele Tamoxifen 12.4616709447
MESH:D013119 Spinal Cord Injuries Tamoxifen 4.2819457130
MESH:D016135 Spinal Dysraphism Valproic Acid 3.9119490988
MESH:D013226 Status Epilepticus Valproic Acid 4.8112833885
MESH:D013274 Stomach Neoplasms arsenic trioxide 2.4017007042
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.4020155912 2093021
MESH:D013921 Thrombocytopenia Lipopolysaccharides 4.3315821434
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8011994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3015669648
MESH:D013964 Thyroid Neoplasms arsenic trioxide 3.2219014326
MESH:D016171 Torsades de Pointes arsenic trioxide 4.2015213294
MESH:D014178 Translocation, Genetic Valproic Acid 5.5017262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.763119515
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 16.4716049721
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 16.4712973940 20435036 11780464 12845720
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 16.4717053015
MESH:D001749 Urinary Bladder Neoplasms monomethylarsonous acid 16.4720375083
MESH:D001749 Urinary Bladder Neoplasms Tamoxifen 16.4716712894 17572228 8653321
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.868888407
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.5510091137
MESH:D014581 Urticaria Acetaminophen 3.1610982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5014692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7114671159 15869587
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35953
    • No data
    No data
    Releated drug ID Related drug Name
    PA448547beclomethasone
    PA164754818betamethasone
    PA448681budesonide
    PA164781399ciclesonide
    PA164776996desonide
    PA449247dexamethasone
    PA449661flunisolide
    PA449686fluticasone propionate
    PA452347glucocorticoids
    PA449905hydrocortisone
    PA450466methylprednisolone
    PA450541mometasone
    PA164777035paramethasone
    PA451096prednisolone
    PA451100prednisone
    PA164752251rimexolone
    PA451749triamcinolone
    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


    Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved