AutismKB 2.0

Annotation Detail for SMARCE1


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Basic Information Top
Gene Symbol:SMARCE1 ( BAF57 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily e, member 1
Band: 17q21.2
Quick LinksEntrez ID:6605; OMIM: 603111; Uniprot ID:SMCE1_HUMAN; ENSEMBL ID: ENSG00000073584; HGNC ID: 11109
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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Pathway IDPathway Name
200102Regulation of Androgen receptor activity
Pathway IDPathway Name
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1944Breast cancer
No data
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Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of SMARCE1 mRNAincreases expression 18648102
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in increased expression of SMARCE1 mRNAincreases expression 20382639
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of SMARCE1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMARCE1 mRNAaffects cotreatment|increases expression 17942748
C008493 methylselenic acid methylselenic acid results in decreased expression of SMARCE1 mRNAdecreases expression 12517777
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with AHR gene mutant form] results in decreased expression of SMARCE1 mRNAaffects cotreatment|decreases expression 19465110
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of SMARCE1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of SMARCE1 mRNAincreases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3815322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.5517505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.933712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8615885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.6311289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.777296757 3581430
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.817296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5416120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.437505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7.4320889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.749022650 19486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.7416105132 17110522 17681005 15861022 16919318 17333356 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2215340226 8697196 12621046 15668235 16354765
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2715322242 10048152 20055451
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.288156756 18759878 12868966 14531868 11906362 2524372 11298694 8970840
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.893621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 3.979653073 18692083 6482804 18289764 8291058 9328219 18648102 7440962 11289319 6679447 1440618 16192314 9022650
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7411000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5115322242 18230668 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6312538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.379294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.633581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.6320426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1815345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.636705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.447505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4910048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.956705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3712621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.668697196 15340226 18606429 16354765 16959395
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.4215034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2916945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8712013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7117937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.638074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.276582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.4015034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8216984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.42598648 3712494 6587162 1399818
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.4212151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2411884234 19555203
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.583581430
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.136679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.776482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.633988306
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0911578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.977296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.086228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.7311896295 11399792 11118676 11222880
MESH:D011471 Prostatic Neoplasms methylselenic acid 3.8416205645
MESH:D011537 Pruritus Ethinyl Estradiol 3.8516919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.643692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1816192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.5516709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0211994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.156582329 1399818 6587162 3712494 7505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.398074119
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.7414692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9114671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35959
    • 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


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