AutismKB 2.0

Annotation Detail for SMARCA4


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:SMARCA4 ( BAF190,BRG1,FLJ39786,RTPS2,SNF2,SNF2-BETA,SNF2L4,SNF2LB,SWI2,hSNF2b )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 4
Band: 19p13.2
Quick LinksEntrez ID:6597; OMIM: 603254; Uniprot ID:SMCA4_HUMAN; ENSEMBL ID: ENSG00000127616; HGNC ID: 11100
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
No data
Pathway IDPathway Name
200106Regulation of Wnt-mediated beta catenin signaling and target gene transcription
200077Glucocorticoid receptor regulatory network
200101Direct p53 effectors
200191Regulation of retinoblastoma protein
Pathway IDPathway Name
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1934Cancer
2023Adrenal gland hyperfunction
2152Renal tubular acidosis
2259Hereditary disease
No data
No data
Desease Name
Rhabdoid tumor predisposition syndrome 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D013196 Dihydrotestosterone [Dihydrotestosterone co-treated with bicalutamide] promotes the reaction [AR protein binds to SMARCA4 protein]affects binding|affects cotreatment|increases reaction 18487222
D000643 Ammonium Chloride Ammonium Chloride affects the expression of SMARCA4 mRNAaffects expression 16483693
C006632 arsenic trioxide arsenic trioxide results in increased expression of SMARCA4 mRNAincreases expression 20458559
C053541 bicalutamide bicalutamide promotes the reaction [SMARCA4 protein binds to KLK3 promoter]affects binding|increases reaction 18487222
C053541 bicalutamide [Dihydrotestosterone co-treated with bicalutamide] promotes the reaction [AR protein binds to SMARCA4 protein]affects binding|affects cotreatment|increases reaction 18487222
C053541 bicalutamide PHB protein promotes the reaction [bicalutamide promotes the reaction [SMARCA4 protein binds to KLK3 promoter]]affects binding|increases reaction 18487222
D002995 Clofibric Acid Clofibric Acid affects the expression of SMARCA4 mRNAaffects expression 17602206
D004958 Estradiol Estradiol results in decreased expression of SMARCA4 mRNAdecreases expression 16705744
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SMARCA4 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMARCA4 mRNAaffects cotreatment|increases expression 17942748
D019833 Genistein Genistein results in increased expression of SMARCA4 mRNAincreases expression 16705744
C029424 hydrazine hydrazine results in increased expression of SMARCA4 mRNAincreases expression 15282401
C008493 methylselenic acid methylselenic acid results in decreased expression of SMARCA4 mRNAdecreases expression 18548127
D010634 Phenobarbital Phenobarbital results in increased expression of SMARCA4 mRNAincreases expression 12082028
C443641 poly(propyleneimine) poly(propyleneimine) analog results in decreased expression of SMARCA4 mRNAdecreases expression 16308212
D012643 Selenium Selenium results in increased expression of SMARCA4 mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin SMARCA4 protein affects the reaction [Tetrachlorodibenzodioxin results in increased expression of CYP1A1 mRNA]affects reaction|increases expression 18842620
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin promotes the reaction [SMARCA4 protein binds to CYP1A1 enhancer]affects binding|increases reaction 18842620
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin promotes the reaction [SMARCA4 protein binds to CYP1A1 promoter]affects binding|increases reaction 18842620
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin promotes the reaction [SMARCA4 protein binds to CYP1B1 enhancer]affects binding|increases reaction 18842620
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin promotes the reaction [SMARCA4 protein binds to CYP1B1 promoter]affects binding|increases reaction 18842620
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMARCA4 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SMARCA4 mRNAincreases expression 18796159
D019772 Topotecan SMARCA4 protein affects the susceptibility to Topotecanaffects response to substance 16217747
C025643 vinclozolin vinclozolin affects the expression of SMARCA4 mRNAaffects expression 19015723
C025643 vinclozolin vinclozolin results in decreased expression of SMARCA4 mRNAdecreases expression 18042343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Phenobarbital 8.366195326
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 8.3615322242 14514962 11752688
MESH:D000138 Acidosis Ammonium Chloride 3.5818287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 3.9717505938
MESH:D000230 Adenocarcinoma arsenic trioxide 10.1911798837 19825857
MESH:D000230 Adenocarcinoma Estradiol 10.1911473722
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 10.1914692618
MESH:D000230 Adenocarcinoma Genistein 10.1911473722
MESH:D018248 Adenoma, Liver Cell Phenobarbital 10.1517620307
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.1516835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 2.9511748828
MESH:D001008 Anxiety Disorders vinclozolin 3.6419015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.4811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.6615885639
MESH:D001778 Blood Coagulation Disorders arsenic trioxide 8.9816206674
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 8.9812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 3.8215340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.7615746008
MESH:D001943 Breast Neoplasms Estradiol 1.8517018787 16675129 19861407 12948864 18497071 17289903 14630087 17261762
MESH:D001943 Breast Neoplasms Genistein 1.8516873071 17200150 16541309
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8520435547
MESH:D002051 Burkitt Lymphoma arsenic trioxide 4.3411589617
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.4816111702
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.8016835633
MESH:D006528 Carcinoma, Hepatocellular arsenic trioxide 6.6016217749 15553829 14691202 11135700 15073043
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.6016924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 6.6016924424
MESH:D006528 Carcinoma, Hepatocellular Phenobarbital 6.6020007298 6705139 17173139 1701930 20935162
MESH:D002291 Carcinoma, Papillary arsenic trioxide 4.9019014326
MESH:D018288 Carcinoma, Small Cell arsenic trioxide 4.1212490120
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.3718670907 18850075 16120746
MESH:D002318 Cardiovascular Diseases Genistein 3.3016332659
MESH:D002471 Cell Transformation, Neoplastic Estradiol 2.7718566989
MESH:D002493 Central Nervous System Diseases Phenobarbital 4.264080065
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D002779 Cholestasis Ethinyl Estradiol 2.8817333356 16919318 15861022 17681005 17110522 16105132 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.108697196 15668235 15340226 12621046 16354765
MESH:D003092 Colitis Selenium 3.7917936198
MESH:D003110 Colonic Neoplasms Genistein 2.2917182828
MESH:D015179 Colorectal Neoplasms arsenic trioxide 1.8620501625
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.0617141729 14669216
MESH:D023903 Coronary Restenosis arsenic trioxide 4.1912609071
MESH:D019465 Craniofacial Abnormalities arsenic trioxide 2.4710525206
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.4720055451 10048152 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.3514966744
MESH:D016757 Death, Sudden, Cardiac arsenic trioxide 4.1015213294
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.3316647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.3317107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.4119279558
MESH:D056486 Drug-Induced Liver Injury Selenium 3.7815131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.7611462148
MESH:D004421 Dystonia Phenobarbital 4.011851702
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.3812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 3.9315322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.2012538720
MESH:D004714 Endometrial Hyperplasia Genistein 4.6116402032
MESH:D016889 Endometrial Neoplasms Estradiol 7.5118566989 19148513 11473722
MESH:D016889 Endometrial Neoplasms Genistein 7.5111473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.029294722 10568697
MESH:D004831 Epilepsies, Myoclonic Phenobarbital 4.123659116
MESH:D004828 Epilepsies, Partial Phenobarbital 3.9011558140 3922381
MESH:D004827 Epilepsy Phenobarbital 2.8920417680
MESH:D004832 Epilepsy, Absence Phenobarbital 3.546401628
MESH:D017029 Epilepsy, Complex Partial Phenobarbital 4.267750514
MESH:D004830 Epilepsy, Tonic-Clonic Phenobarbital 4.043659116
MESH:D004938 Esophageal Neoplasms arsenic trioxide 2.3112903497
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.0111564622
MESH:D005234 Fatty Liver arsenic trioxide 7.7515073043
MESH:D005234 Fatty Liver Ethinyl Estradiol 7.7515345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.4711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 2.9620067830
MESH:D005706 Gallbladder Neoplasms arsenic trioxide 4.2716904648
MESH:D030342 Genetic Diseases, Inborn vinclozolin 4.9516973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.3316417039
MESH:D005909 Glioblastoma Genistein 3.2616598420
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.6210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.3310048152 11294989
MESH:D006333 Heart Failure Selenium 3.0717162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.3411000095
MESH:D006529 Hepatomegaly Phenobarbital 8.4916109766
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 8.4912621046 16120746 15340226
MESH:D006558 Herpes Genitalis Estradiol 5.0615709030
MESH:D019584 Hot Flashes Estradiol 3.7817088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.0815340226 18606429 16354765 8697196 16959395
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9118850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 3.8216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.4712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 6.6717937319
MESH:D007248 Infertility, Male vinclozolin 6.6716467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.8612200463 12878042
MESH:D007251 Influenza, Human Selenium 4.2316624496
MESH:D007333 Insulin Resistance Estradiol 2.9716627594 16393666
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.3416580747
MESH:D007674 Kidney Diseases Estradiol 2.5815618244
MESH:D007676 Kidney Failure, Chronic Selenium 3.8916518626
MESH:D007680 Kidney Neoplasms Estradiol 2.9815610895
MESH:D007938 Leukemia arsenic trioxide 6.4415070760
MESH:D007938 Leukemia Genistein 6.4418980019 17468513
MESH:D015459 Leukemia-Lymphoma, Adult T-Cell arsenic trioxide 3.8017077332 12560223
MESH:D007948 Leukemia, Monocytic, Acute arsenic trioxide 4.3316972261
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive arsenic trioxide 3.4314633726
MESH:D007951 Leukemia, Myeloid arsenic trioxide 3.7619077051
MESH:D015470 Leukemia, Myeloid, Acute arsenic trioxide 2.1420471514 19850784 16968895 16467208 17050201
MESH:D015473 Leukemia, Promyelocytic, Acute arsenic trioxide 3.2217869043 17107899 16823087 17217047 19225113 15748426 16966277 15336539 12679006 11161223 16891316 19035177 19075265 11468182 17649720 12712474 15213294 16112521 17712046 16330433 12018890 9834237 15622746 19642359 16331271
MESH:D015458 Leukemia, T-Cell arsenic trioxide 4.3616882451
MESH:D007984 Leydig Cell Tumor vinclozolin 4.7516417039
MESH:D008103 Liver Cirrhosis Phenobarbital 2.9021047994
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 3.4714716833 14659978
MESH:D008106 Liver Cirrhosis, Experimental Genistein 3.4717823541
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.4712878042
MESH:D008107 Liver Diseases Phenobarbital 2.1719363144
MESH:D008113 Liver Neoplasms arsenic trioxide 10.7314682389
MESH:D008113 Liver Neoplasms Clofibric Acid 10.7317602206
MESH:D008113 Liver Neoplasms Phenobarbital 10.7319812893 15975961 19482888 8742319 21047994 19073162
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 10.7316984957
MESH:D008114 Liver Neoplasms, Experimental arsenic trioxide 9.8320377131
MESH:D008114 Liver Neoplasms, Experimental Phenobarbital 9.832563599 1399818 18308698 17172636 6150874
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 9.8312151625
MESH:D008133 Long QT Syndrome arsenic trioxide 3.3515213294
MESH:D008175 Lung Neoplasms arsenic trioxide 2.2911798837 19825857
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2911884234 19555203
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 10.0111807958 17203775 16891317 11408345
MESH:D008325 Mammary Neoplasms, Experimental Genistein 10.0114578162 12929590
MESH:D008325 Mammary Neoplasms, Experimental Selenium 10.0115318939
MESH:D020149 Manganese Poisoning Estradiol 4.5119453300
MESH:D008654 Mesothelioma Selenium 2.7915107826
MESH:D009101 Multiple Myeloma arsenic trioxide 3.1119417148 15949261 11468182 14977855 19549372
MESH:D009182 Mycosis Fungoides arsenic trioxide 4.7018349030
MESH:D009190 Myelodysplastic Syndromes arsenic trioxide 3.1416105982 16882451
MESH:D009203 Myocardial Infarction Genistein 2.8617141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.0212213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.5216810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 8.5217141266
MESH:D020191 Myoclonic Epilepsies, Progressive Phenobarbital 4.5017484760
MESH:D009361 Neoplasm Invasiveness arsenic trioxide 3.9716624393
MESH:D009389 Neovascularization, Pathologic Estradiol 3.7517289903
MESH:D009421 Nervous System Malformations Estradiol 16.4311399458 16427766
MESH:D009421 Nervous System Malformations Genistein 16.4316427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 16.4314600291
MESH:D009436 Neural Tube Defects arsenic trioxide 3.1210525206
MESH:D009447 Neuroblastoma Topotecan 3.8515176712
MESH:D010018 Osteomalacia Phenobarbital 4.3817016548
MESH:D010024 Osteoporosis Genistein 3.2519401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.0916169203
MESH:D010051 Ovarian Neoplasms arsenic trioxide 7.9119769630 16624393 12452020
MESH:D010051 Ovarian Neoplasms Estradiol 7.9119401270
MESH:D010051 Ovarian Neoplasms Genistein 7.9119005980
MESH:D010190 Pancreatic Neoplasms arsenic trioxide 5.3015580305
MESH:D010190 Pancreatic Neoplasms Phenobarbital 5.3016965848
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.6911578682
MESH:D010235 Paraganglioma arsenic trioxide 4.1719927285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.2812520081
MESH:D010954 Plasmacytoma Selenium 4.9215087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.5718163543
MESH:D011230 Precancerous Conditions Phenobarbital 3.622563599
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 9.5611118676 11222880 11896295 11399792
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 9.5618042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 4.9518220299
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 3.8920887781
MESH:D011471 Prostatic Neoplasms arsenic trioxide 1.8919131511
MESH:D011471 Prostatic Neoplasms bicalutamide 1.8917914592 15638997 18487222 19240160 19011039
MESH:D011471 Prostatic Neoplasms Estradiol 1.8916740699
MESH:D011471 Prostatic Neoplasms Genistein 1.8915256057 16925846 15378649
MESH:D011471 Prostatic Neoplasms methylselenic acid 1.8916205645
MESH:D011472 Prostatitis vinclozolin 4.9518629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.3316919318 15861022
MESH:D019310 Pseudolymphoma Phenobarbital 4.5312752131
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 3.8518990726
OMIM:613325 RHABDOID TUMOR PREDISPOSITION SYNDROME 2 marker/mechanism
MESH:D012512 Sarcoma, Ewing's arsenic trioxide 3.9716646077
MESH:D012640 Seizures Phenobarbital 2.6916876388 11442880 3137016 4039156
MESH:D003294 Seizures, Febrile Phenobarbital 4.846407741
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.0416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 3.9716709447
MESH:D013274 Stomach Neoplasms arsenic trioxide 1.8617007042
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.6311994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.1515669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 3.9312697716
MESH:D013964 Thyroid Neoplasms arsenic trioxide 7.2219014326
MESH:D013964 Thyroid Neoplasms Phenobarbital 7.221399818
MESH:D013978 Tibial Fractures Estradiol 4.7219048282
MESH:D016171 Torsades de Pointes arsenic trioxide 3.9815213294
MESH:D001749 Urinary Bladder Neoplasms arsenic trioxide 2.4812845720 11780464 20435036 12973940
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.3114692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.6212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.5415869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.2815886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35950
    • No data
    Releated disease ID Related disease Name
    PA445218Pancreatic Neoplasms
    PA445019Myocardial Infarction
    PA445019Myocardial Infarction
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    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