AutismKB 2.0

Annotation Detail for SMARCA5


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Basic Information Top
Gene Symbol:SMARCA5 ( ISWI,SNF2H,WCRF135,hISWI,hSNF2H )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 5
Band: 4q31.21
Quick LinksEntrez ID:8467; OMIM: 603375; Uniprot ID:SMCA5_HUMAN; ENSEMBL ID: ENSG00000153147; HGNC ID: 11101
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Chromosome Maintenance
No data
Pathway IDPathway Name
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene results in decreased expression of SMARCA5 mRNAdecreases expression 20406850
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of SMARCA5 mRNAaffects expression 21346803
C472791 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid 3-(4'-hydroxy-3'-adamantylbiphenyl-4-yl)acrylic acid results in increased expression of SMARCA5 mRNAincreases expression 16788091
D016572 Cyclosporine Cyclosporine results in increased expression of SMARCA5 mRNAincreases expression 20106945
C014347 decitabine decitabine results in increased expression of SMARCA5 mRNAincreases expression 15251184
C014347 decitabine [Tetrachlorodibenzodioxin co-treated with decitabine] results in increased expression of SMARCA5 mRNAaffects cotreatment|increases expression 15251184
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SMARCA5 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMARCA5 mRNAaffects cotreatment|increases expression 17942748
D019833 Genistein Genistein results in increased expression of SMARCA5 mRNAincreases expression 16169203
D012643 Selenium Selenium results in decreased expression of SMARCA5 mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with decitabine] results in increased expression of SMARCA5 mRNAaffects cotreatment|increases expression 15251184
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMARCA5 mRNAaffects cotreatment|increases expression 17942748
D014212 Tretinoin Tretinoin results in decreased expression of SMARCA5 mRNAdecreases expression 17045167
C025643 vinclozolin vinclozolin results in decreased expression of SMARCA5 mRNAdecreases expression 18042343
D014810 Vitamin E Vitamin E results in decreased expression of SMARCA5 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0414514962 15322242 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.4614692618
MESH:D000230 Adenocarcinoma Genistein 4.4611473722
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000505 Alopecia Tretinoin 3.7315955085
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D001008 Anxiety Disorders vinclozolin 3.7519015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 7.4815885639
MESH:D001169 Arthritis, Experimental Tretinoin 7.4816412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2916292516
MESH:D001249 Asthma Tretinoin 2.3816456186
MESH:D001471 Barrett Esophagus Tretinoin 4.5616935849
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4112125929
MESH:D001778 Blood Coagulation Disorders Tretinoin 9.4116206674 16197459
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms decitabine 1.9818320071 19208741
MESH:D001943 Breast Neoplasms Genistein 1.9816873071 17200150 16541309
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9820435547
MESH:D001943 Breast Neoplasms Tretinoin 1.9816873071 16443354 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.7816813970
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.1116050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.3816168501
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 4.7416705839
MESH:D006528 Carcinoma, Hepatocellular Genistein 4.7416924424
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 4.741917145
MESH:D002294 Carcinoma, Squamous Cell decitabine 4.8919215824
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.8916051514 16096774
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418850075 18670907 16120746
MESH:D002318 Cardiovascular Diseases Genistein 3.4016332659
MESH:D002386 Cataract Tretinoin 3.1717460283
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.896135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.8912371664
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.7816129372
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Cyclosporine 8.1219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1216105132 16919318 15861022 11677210 17333356 17681005 17110522
MESH:D002822 Choriocarcinoma Tretinoin 5.3816461808
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 5.9415340226 16354765 15668235 12621046 8697196
MESH:D002972 Cleft Palate Tretinoin 5.949407595
MESH:D003092 Colitis Selenium 10.0917936198
MESH:D003092 Colitis Tretinoin 10.0917035595
MESH:D003110 Colonic Neoplasms decitabine 3.9617616700
MESH:D003110 Colonic Neoplasms Genistein 3.9617182828
MESH:D015179 Colorectal Neoplasms decitabine 2.1018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 3.8420055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Tretinoin 3.849211117 16925845 9142499 17551590 9224671 10589399 9125849 14991402 9664655 8800419
MESH:D019465 Craniofacial Abnormalities Vitamin E 3.8419769572
MESH:D003456 Cryptorchidism vinclozolin 4.5014966744
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1918551238
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.4316647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.4317107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.4121346803 18551238
MESH:D056486 Drug-Induced Liver Injury Selenium 6.4115131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:C538011 Eales disease Vitamin E 4.929068938
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5111000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 12.6818230668 15322242 16714409
MESH:D004489 Edema, Cardiac Tretinoin 12.6818230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.3319294695
MESH:D004714 Endometrial Hyperplasia Genistein 4.7816402032
MESH:D016889 Endometrial Neoplasms Genistein 7.8511473722
MESH:D016889 Endometrial Neoplasms Tretinoin 7.8516569247
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 9.1811564622
MESH:D005124 Eye Abnormalities Tretinoin 9.189664655 16938888
MESH:D005234 Fatty Liver Cyclosporine 8.0519224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.0515345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005355 Fibrosis Cyclosporine 15.7812168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 15.7820067830
MESH:D005355 Fibrosis Tretinoin 15.7817994277
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.1316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.5216417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D005909 Glioblastoma Genistein 7.5016598420
MESH:D005909 Glioblastoma Tretinoin 7.5017312396
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006258 Head and Neck Neoplasms decitabine 8.1419215824
MESH:D006258 Head and Neck Neoplasms Tretinoin 8.1416096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.3816084493
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 11.5311294989 10048152
MESH:D006330 Heart Defects, Congenital Tretinoin 11.539664655 14991402
MESH:D006330 Heart Defects, Congenital Vitamin E 11.5316080930
MESH:D006333 Heart Failure Selenium 3.1517162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0715340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7416863852 16490937
MESH:D019584 Hot Flashes Vitamin E 4.1914716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.268697196 18606429 16959395 15340226 16354765
MESH:D006930 Hyperalgesia Tretinoin 3.3216870215
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7416778211
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 3.9816945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male decitabine 11.7717581917
MESH:D007248 Infertility, Male Ethinyl Estradiol 11.7717937319
MESH:D007248 Infertility, Male vinclozolin 11.7716467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212878042 12200463
MESH:D007251 Influenza, Human Selenium 11.7016624496
MESH:D007251 Influenza, Human Vitamin E 11.7016624496
MESH:D007410 Intestinal Diseases Tretinoin 3.9417994277
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 10.4016580747
MESH:D007569 Jaw Abnormalities Tretinoin 10.4017551590 15992940
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Cyclosporine 6.278314463 18776723 10903974
MESH:D007674 Kidney Diseases Vitamin E 6.2712488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 7.6716705839
MESH:D007680 Kidney Neoplasms Cyclosporine 7.6712371664
MESH:D007938 Leukemia decitabine 10.9119235587 18980019
MESH:D007938 Leukemia Genistein 10.9117468513 18980019
MESH:D007938 Leukemia Tretinoin 10.9117143497
MESH:D007951 Leukemia, Myeloid decitabine 10.0319117987 17236224 18454857
MESH:D007951 Leukemia, Myeloid Tretinoin 10.0316482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute decitabine 4.0418704418 18206229 18460780 19010910 17679729 19387464
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 4.0419850784 16294345 17596541
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.6818055864
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 3.2417339181 16891316 16331271 19075265 9834237 17301526 16766008 19225113 15748426 16788101 17368321 17649720 17107899 16140955 19035177 16823087 19642359 19029980 17217047 17361223 17712046 17294898 17506722 12679006 16935935
MESH:D007984 Leydig Cell Tumor vinclozolin 4.9316417039
MESH:D017880 Limb Deformities, Congenital Tretinoin 3.419224671
MESH:D008106 Liver Cirrhosis, Experimental Genistein 5.0917823541
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.0912878042
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 5.0916248980 18397230
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 5.0916169303
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 4.537678174
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5316984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.012876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0112151625
MESH:D008171 Lung Diseases Vitamin E 3.2716863852
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3419555203 11884234
MESH:D008175 Lung Neoplasms Vitamin E 2.3411062179
MESH:D008223 Lymphoma decitabine 3.5219470736
MESH:D008325 Mammary Neoplasms, Experimental Genistein 6.4512929590 14578162
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.4515318939
MESH:D008527 Medulloblastoma Tretinoin 2.8317453147
MESH:D008545 Melanoma decitabine 3.4916505122 17785578
MESH:D008545 Melanoma Tretinoin 3.4916752155
MESH:D008591 Meningomyelocele Tretinoin 4.6016940565
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D009101 Multiple Myeloma decitabine 3.4418172295
MESH:D009190 Myelodysplastic Syndromes decitabine 7.7319010910 16882708 18608210 19157545
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.7317596541
MESH:D009203 Myocardial Infarction Genistein 2.9117141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D015428 Myocardial Reperfusion Injury Genistein 3.7717141266
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.0518551238 7678174
MESH:D009369 Neoplasms decitabine 5.4017925555 19470736 19116145
MESH:D009369 Neoplasms Tretinoin 5.4016946489 16594593
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4119348381 18481113
MESH:D009421 Nervous System Malformations Genistein 17.3616427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 17.3614600291
MESH:D009421 Nervous System Malformations Tretinoin 17.369125849
MESH:D009436 Neural Tube Defects Tretinoin 3.149142499
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5616049721
MESH:D010024 Osteoporosis Genistein 3.3319401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.2316169203
MESH:D010051 Ovarian Neoplasms decitabine 8.1919331143 19259094
MESH:D010051 Ovarian Neoplasms Genistein 8.1919005980
MESH:D010051 Ovarian Neoplasms Tretinoin 8.1916936753
MESH:D010146 Pain Tretinoin 3.0216870215
MESH:D010190 Pancreatic Neoplasms decitabine 5.5319294695
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.5315976015
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.1411896295 11222880 11118676 11399792
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.1418042343 19015723 18220299
MESH:D055728 Primary Myelofibrosis decitabine 4.9017616702
MESH:D011469 Prostatic Diseases vinclozolin 5.1318220299
MESH:D011471 Prostatic Neoplasms Genistein 3.3416925846 15256057 15378649
MESH:D011471 Prostatic Neoplasms Vitamin E 3.3415084515
MESH:D011472 Prostatitis vinclozolin 5.1318629315
MESH:D011507 Proteinuria Tretinoin 3.7516636307
MESH:D011537 Pruritus Ethinyl Estradiol 3.5116919318 15861022
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D011625 Pterygium Tretinoin 4.9916723453
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012208 Rhabdomyosarcoma decitabine 11.4519155313
MESH:D012208 Rhabdomyosarcoma Tretinoin 11.4516116481 16283617
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6218551238
MESH:D012871 Skin Diseases Vitamin E 2.4718709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.7616192470
MESH:D012878 Skin Neoplasms Tretinoin 5.7616467112
MESH:D013088 Spermatocele Ethinyl Estradiol 4.1616709447
MESH:D013274 Stomach Neoplasms decitabine 2.5719037991
MESH:D013274 Stomach Neoplasms Tretinoin 2.5717261132
MESH:D020521 Stroke Vitamin E 3.6316517955
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D013964 Thyroid Neoplasms decitabine 7.6517967635
MESH:D013964 Thyroid Neoplasms Tretinoin 7.6517045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 3.9216051514
MESH:D014376 Tuberculosis Tretinoin 3.3116040207
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3416049721
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.3419087683 17616700
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5110091137
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.8116129372
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.4614692618
MESH:D014604 Uveal Neoplasms decitabine 13.5717785578
MESH:D014604 Uveal Neoplasms Tretinoin 13.5716752155
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D014820 Vitiligo Tretinoin 4.2216761959
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D009396 Wilms Tumor Tretinoin 4.0916287080
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
REACT:22172 Chromosome Maintenance
Pharmacogenomics Knowledge Base Top
Drug Bank Top
Drugbank ID Action Drug Name Description
DB02379 - Beta-D-Glucose Sweetening Agents
DB02670 - 4-Deoxy-Alpha-D-Glucose
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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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