AutismKB 2.0

Annotation Detail for SMARCC2


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Basic Information Top
Gene Symbol:SMARCC2 ( BAF170,CRACC2,DKFZp313D0632,Rsc8 )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily c, member 2
Band: 12q13.2
Quick LinksEntrez ID:6601; OMIM: 601734; Uniprot ID:SMRC2_HUMAN; ENSEMBL ID: ENSG00000139613; HGNC ID: 11105
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
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Pathway IDPathway Name
200077Glucocorticoid receptor regulatory network
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D017638 Asbestos, Crocidolite Asbestos, Crocidolite affects the expression of SMARCC2 mRNAaffects expression 17331233
C006780 bisphenol A bisphenol A results in increased expression of SMARCC2 mRNAincreases expression 20678512
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of SMARCC2 mRNAdecreases expression 15336504
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D001862 Bone Resorption bisphenol A 4.3511985600
MESH:D001943 Breast Neoplasms bisphenol A 2.4217123778
MESH:D002278 Carcinoma in Situ bisphenol A 5.7317123778
MESH:D007333 Insulin Resistance bisphenol A 3.5616393666
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.6717365036
MESH:D008654 Mesothelioma Asbestos, Crocidolite 3.3216966607 16166281 18303189
MESH:D009421 Nervous System Malformations bisphenol A 4.5611399458 16427766
MESH:D010049 Ovarian Diseases bisphenol A 5.7311985600
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.5510923243
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.6910548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.6920887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3416740699
MESH:D011629 Puberty, Precocious bisphenol A 5.5310548101
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1617365031 17322281 17975199 15814490
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.868532709
MESH:D019966 Substance-Related Disorders bisphenol A 4.7216684133 16045194
MESH:D014591 Uterine Diseases bisphenol A 5.8814652134
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA35955
    • 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

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    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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