AutismKB 2.0

Annotation Detail for SMARCD3


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Basic Information Top
Gene Symbol:SMARCD3 ( BAF60C,CRACD3,MGC111010,Rsc6p )
Gene Full Name: SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily d, member 3
Band: 7q36.1
Quick LinksEntrez ID:6604; OMIM: 601737; Uniprot ID:SMRD3_HUMAN; ENSEMBL ID: ENSG00000082014; HGNC ID: 11108
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Metabolism of lipids and lipoproteins
Pathway IDPathway Name
200061LKB1 signaling events
Pathway IDPathway Name
P00057Wnt signaling pathway
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 SMARCD3 mRNAaffects expression 17331233
D016572 Cyclosporine Cyclosporine results in decreased expression of SMARCD3 mRNAdecreases expression 20106945
C008493 methylselenic acid methylselenic acid results in increased expression of SMARCD3 mRNAincreases expression 18548127
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of SMARCD3 mRNAaffects binding|increases activity|increases expression 19710929
D012643 Selenium Selenium results in increased expression of SMARCD3 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.7612371664
MESH:D002779 Cholestasis Cyclosporine 8.6319486331
MESH:D002779 Cholestasis pirinixic acid 8.6319176532
MESH:D003092 Colitis Selenium 4.2617936198
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury Selenium 2.2515131321
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8219236843 20131406
MESH:D005355 Fibrosis Cyclosporine 3.6212639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006333 Heart Failure pirinixic acid 7.6220558911
MESH:D006333 Heart Failure Selenium 7.6217162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.9615720958
MESH:D006529 Hepatomegaly pirinixic acid 3.4818467677 19772884 16221962 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.5320558911
MESH:D006973 Hypertension Cyclosporine 2.2010903974
MESH:D007251 Influenza, Human Selenium 4.8116624496
MESH:D007333 Insulin Resistance pirinixic acid 2.8516306350
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.0515604871
MESH:D007674 Kidney Diseases Cyclosporine 2.5218776723 10903974 8314463
MESH:D007676 Kidney Failure, Chronic Selenium 4.2616518626
MESH:D007680 Kidney Neoplasms Cyclosporine 3.0412371664
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9215890375 16377806 20007298
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.5017365036
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9715318939
MESH:D008654 Mesothelioma Asbestos, Crocidolite 6.7216166281 16966607 18303189
MESH:D008654 Mesothelioma Selenium 6.7215107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009135 Muscular Diseases pirinixic acid 3.9916239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2619151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2216411023
MESH:D009369 Neoplasms pirinixic acid 2.0917405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D010954 Plasmacytoma Selenium 5.5015087411
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.3810923243
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011471 Prostatic Neoplasms methylselenic acid 3.8416205645
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1417365031 15814490 17322281 17975199
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
Pathway ID Pathway Name
REACT:22258 Metabolism of lipids and lipoproteins
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  (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