AutismKB 2.0

Annotation Detail for CDC42EP1


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Basic Information Top
Gene Symbol:CDC42EP1 ( BORG5,CEP1,MGC15316,MSE55 )
Gene Full Name: CDC42 effector protein (Rho GTPase binding) 1
Band: 22q13.1
Quick LinksEntrez ID:11135; OMIM: 606084; Uniprot ID:BORG5_HUMAN; ENSEMBL ID: ENSG00000128283; HGNC ID: 17014
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
C548651 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester 2-(1'H-indolo-3'-carbonyl)thiazole-4-carboxylic acid methyl ester results in decreased expression of CDC42EP1 mRNAdecreases expression 19933214
D000082 Acetaminophen Acetaminophen affects the expression of CDC42EP1 mRNAaffects expression 17562736
D004041 Dietary Fats Dietary Fats results in increased expression of CDC42EP1 mRNAincreases expression 18042831
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CDC42EP1 mRNAaffects cotreatment|increases expression 17942748
D005472 Fluorouracil CDC42EP1 protein affects the susceptibility to Fluorouracilaffects response to substance 16217747
C041786 palm oil palm oil results in increased expression of CDC42EP1 mRNAincreases expression 18042831
D013467 Sulindac Sulindac results in increased expression of CDC42EP1 mRNAincreases expression 11906190
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of CDC42EP1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of CDC42EP1 mRNAdecreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000008 Abdominal Neoplasms Sulindac 5.8714745880
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1814514962 15322242 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D058186 Acute Kidney Injury Sulindac 4.567897758
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.5014692618
MESH:D000230 Adenocarcinoma Fluorouracil 7.5017638652
MESH:D000230 Adenocarcinoma Sulindac 7.5011910360
MESH:D000236 Adenoma Sulindac 3.9110223192
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D011125 Adenomatous Polyposis Coli Sulindac 4.8317611924 12394442 11535846 16460482 19003578 11874996 15623613
MESH:D000740 Anemia Fluorouracil 9.4516511603 15504547 17963324
MESH:D000740 Anemia Tetrachlorodibenzodioxin 9.4511748828
MESH:D000799 Angioedema Acetaminophen 4.2210982225
MESH:D001161 Arteriosclerosis Dietary Fats 10.9515238619
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 10.9511256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D001913 Bowen's Disease Sulindac 5.7311207687
MESH:D001943 Breast Neoplasms Dietary Fats 2.0220435547
MESH:D001943 Breast Neoplasms Fluorouracil 2.0216557594 18357371 16595493 19217205 18608205 16110121 15136595
MESH:D001943 Breast Neoplasms Sulindac 2.0216642371
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0220435547
MESH:D002276 Carcinoid Tumor Fluorouracil 5.0416051944
MESH:D002277 Carcinoma Fluorouracil 8.8317121937
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 8.8316835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.033084413
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.0317971768 16799960 17045692 16332177 18930000 17088986
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 3.1118695887
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 2.5518986760 16757204 16280240 17066447
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4918670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.7110977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.0517110522 15861022 11677210 16919318 17333356 16105132 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 16354765 15340226 12621046 15668235
MESH:D003110 Colonic Neoplasms Fluorouracil 4.2117172411 17725105 18772588 16510598 16340194 15001691 17016597 17169374 17287894 17018589
MESH:D003110 Colonic Neoplasms Sulindac 4.2112458338 12902858
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.9018288408 18802399 18949393 17695437 16391804 16303861 18448328 18383874 17255274 16524972 17594712 20501625 17016601 17454858 17094418 16282729 15148649 18509181 17401013 15289873 16331619 14970324
MESH:D015179 Colorectal Neoplasms Sulindac 2.9018059344 11076880 10666051 11197048
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2717141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 20055451 10048152
MESH:D007644 Darier Disease Fluorouracil 5.1316733453
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003930 Diabetic Retinopathy Sulindac 5.4612861449 17621415
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.7516177239 16081117 12958197 19739265 2444490 11287661 16227642 10915739 15619225 16109766 11834606 11421492 12594235 17906064 14986274 17522070 19923254 15968718 19420014 12705907 19085960 12392966 19164858 18713872 19370779 11461765 14725611 19416960 16393943 16485898 11743745 14550746 10774834 18071297 12153990 16781746 11529661 12540782 11739529 17562736 10663392
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.7520420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4719426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D050171 Dyslipidemias Dietary Fats 3.6218367378
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2815322242 16714409 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004715 Endometriosis Sulindac 9.9615652904
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.969294722 10568697
MESH:D004938 Esophageal Neoplasms Fluorouracil 5.0716337965 16785472 15173087 16481741 17638652
MESH:D004938 Esophageal Neoplasms Sulindac 5.0712235107
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Dietary Fats 8.5419551842 17967931 19004024 18296743
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.5415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D018221 Fibromatosis, Abdominal Sulindac 5.8214745880
MESH:D018222 Fibromatosis, Aggressive Sulindac 5.4719069698
MESH:D005355 Fibrosis Dietary Fats 9.6618296743
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.6620067830
MESH:D005756 Gastritis Acetaminophen 4.0516983495
MESH:D005764 Gastroesophageal Reflux Sulindac 5.2911910360
MESH:D005910 Glioma Fluorouracil 2.9516145905
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.5415102660 18337622 15162350
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4410048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 12621046 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4215340226 18606429 8697196 16959395 16354765
MESH:D006930 Hyperalgesia Acetaminophen 2.8916870215
MESH:D006937 Hypercholesterolemia Dietary Fats 3.8321332399
MESH:D006949 Hyperlipidemias Dietary Fats 3.8721332399
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6417937319
MESH:D007249 Inflammation Dietary Fats 9.0720412841
MESH:D007249 Inflammation Sulindac 9.073291741
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 9.0712200463 12878042
MESH:D007333 Insulin Resistance Dietary Fats 3.2518457598 11836018
MESH:D007414 Intestinal Neoplasms Sulindac 4.8612351151 10223192 10213222 12663524 12628509 12584176
MESH:D007417 Intestinal Polyps Sulindac 5.2512394442 11245490
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3212587719 15629191
MESH:D007680 Kidney Neoplasms Fluorouracil 3.5116985049
MESH:D008103 Liver Cirrhosis Dietary Fats 2.9918296743
MESH:D008105 Liver Cirrhosis, Biliary Sulindac 4.3612468960
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Acetaminophen 4.4219014921 12969438 12587719 16611625 19460945 19784758 16610002 11587558
MESH:D008107 Liver Diseases Sulindac 4.4214986274 16867024
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4617185352 16871587
MESH:D008113 Liver Neoplasms Fluorouracil 4.7515113037 16603448 18383874 17045692
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.7516984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008175 Lung Neoplasms Fluorouracil 3.6515246190
MESH:D008175 Lung Neoplasms Sulindac 3.6515713900 19359593
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.6511884234 19555203
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.1315086387
MESH:D008545 Melanoma Sulindac 2.8516642371
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8719513568
MESH:D009062 Mouth Neoplasms Fluorouracil 3.8116757204 18986760
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009369 Neoplasms Fluorouracil 2.7118239605 18600527 16928823
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 9.2118514411
MESH:D019636 Neurodegenerative Diseases Sulindac 9.2117266991 16850258
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.5916436463
MESH:D009765 Obesity Dietary Fats 2.3321332399 20518802 20132043 18457598 17217161 19632207 11836018 16723640 18674790
MESH:D010146 Pain Acetaminophen 7.5916870215
MESH:D010146 Pain Sulindac 7.593291741
MESH:D010190 Pancreatic Neoplasms Fluorouracil 5.9115113037 16929163 16500647 19003803
MESH:D010190 Pancreatic Neoplasms Sulindac 5.9116820089 11504793
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311896295 11118676 11222880 11399792
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.3719082440 18626508
MESH:D011537 Pruritus Ethinyl Estradiol 3.6515861022 16919318
MESH:D012004 Rectal Neoplasms Fluorouracil 4.2318286688 18722050 15538739 16160472
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D013274 Stomach Neoplasms Fluorouracil 2.0018396642 19015929 17522103 15786421 18567086 17498489 16424979 17172411 16951190 19084572
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D014062 Tongue Neoplasms Fluorouracil 4.2216280240
MESH:D014581 Urticaria Acetaminophen 3.2410982225
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.1116803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 10.6214692618
MESH:D014594 Uterine Neoplasms Sulindac 10.6218645019
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
MESH:D015430 Weight Gain Dietary Fats 3.9516723640
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA38430
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    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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