AutismKB 2.0

Annotation Detail for CDC42EP4


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Basic Information Top
Gene Symbol:CDC42EP4 ( BORG4,CEP4,KAIA1777,MGC17125,MGC3740 )
Gene Full Name: CDC42 effector protein (Rho GTPase binding) 4
Band: 17q25.1
Quick LinksEntrez ID:23580; OMIM: 605468; Uniprot ID:BORG4_HUMAN; ENSEMBL ID: ENSG00000179604; HGNC ID: 17147
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of CDC42EP4 mRNAaffects expression 21346803
D001564 Benzo(a)pyrene Benzo(a)pyrene results in increased expression of CDC42EP4 mRNAincreases expression 20504355
D016572 Cyclosporine Cyclosporine results in decreased expression of CDC42EP4 mRNAdecreases expression 20106945
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of CDC42EP4 mRNAaffects binding|increases activity|increases expression 19710929
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of CDC42EP4 mRNAaffects binding|decreases expression|increases activity 19710929
D012643 Selenium Selenium results in increased expression of CDC42EP4 mRNAincreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 4.497525203
MESH:D055371 Acute Lung Injury pirinixic acid 3.5218653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0520127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.846695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.0216434500
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.5619183758
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.5219483382
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.0020146248 17474063
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.8114694615
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:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 4.4915095906
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5618249437
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 4.4521346803
MESH:D056486 Drug-Induced Liver Injury Selenium 4.4515131321
MESH:D004487 Edema pirinixic acid 2.8512083418
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005234 Fatty Liver Cyclosporine 8.8219224547
MESH:D005234 Fatty Liver pirinixic acid 8.8220131406 19236843
MESH:D005355 Fibrosis Cyclosporine 3.6212168785 12639820
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.768708960
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8220471113
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 3.4816221962 18467677 19772884 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 Benzo(a)pyrene 4.7320195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 4.7316377806 15890375 20007298
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5718816296 20464547 18569708 6695378 17053015 20135361 18520028 20869020 20064080
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9715318939
MESH:D008654 Mesothelioma Selenium 2.9015107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.4016801185
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4616381670
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 Benzo(a)pyrene 5.3311141357
MESH:D009369 Neoplasms pirinixic acid 5.3317405874
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.0517954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.6119348381 18481113
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 4.4414694615
MESH:D010954 Plasmacytoma Selenium 5.5015087411
MESH:D011230 Precancerous Conditions Cyclosporine 3.5512371664
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D011565 Psoriasis Cyclosporine 2.3216882103
MESH:D015427 Reperfusion Injury pirinixic acid 2.5319058328
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5110029692 19755658
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.5620155912 2093021
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.2917053015
MESH:D014605 Uveitis Cyclosporine 4.591336536
MESH:D014985 Xerophthalmia Cyclosporine 5.0517120751
No data
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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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