AutismKB 2.0

Annotation Detail for RAPGEF3


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Basic Information Top
Gene Symbol:RAPGEF3 ( CAMP-GEFI,EPAC,EPAC1,HSU79275,MGC21410,bcm910 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 3
Band: 12q13.11
Quick LinksEntrez ID:10411; OMIM: 606057; Uniprot ID:A8K2G5_HUMAN; ENSEMBL ID: ENSG00000079337; HGNC ID: 16629
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04670Leukocyte transendothelial migration
hsa04720Long-term potentiation
Pathway IDPathway Name
Diabetes pathways
Hemostasis
Signaling in Immune system
Integration of energy metabolism
Integrin cell surface interactions
No data
No data
No data
Related Diseases/Disorders Top
No data
Desease IDDesease Name
2051Leukemia
2075Heart failure
2106Pancreas cancer
Desease Name
CHEMDEPENDENCY
smoking behavior
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C473217 8-(4-chloro-phenylthio)-2'-O-methyladenosine-3'-5'-cyclic monophosphate 8-(4-chloro-phenylthio)-2'-O-methyladenosine-3'-5'-cyclic monophosphate binds to and results in increased activity of RAPGEF3 proteinaffects binding|increases activity 19167487
D000082 Acetaminophen Acetaminophen affects the expression of RAPGEF3 mRNAaffects expression 17562736
D000643 Ammonium Chloride Ammonium Chloride affects the expression of RAPGEF3 mRNAaffects expression 16483693
C006780 bisphenol A bisphenol A affects the expression of RAPGEF3 mRNAaffects expression 20170705
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of RAPGEF3 mRNAaffects expression 20170705
D004997 Ethinyl Estradiol Ethinyl Estradiol affects the expression of RAPGEF3 mRNAaffects expression 20170705
D012402 Rotenone Rotenone results in increased expression of RAPGEF3 mRNAincreases expression 19013527
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000138 Acidosis Ammonium Chloride 4.0218287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001862 Bone Resorption bisphenol A 4.1911985600
MESH:D001943 Breast Neoplasms bisphenol A 2.4317123778
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002278 Carcinoma in Situ bisphenol A 5.4517123778
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1017681005 15861022 16105132 17110522 11677210 17333356 16919318
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6519164858 16227642 17562736 19739265 16485898 19416960 12153990 12958197 10774834 14550746 12392966 14986274 10663392 11529661 15619225 18071297 2444490 11743745 15968718 17906064 16393943 10915739 19085960 12705907 18713872 16781746 19370779 11739529 16081117 14725611 19923254 17522070 19420014 11287661 16177239 11834606 12594235 11421492 16109766 12540782 11461765
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007333 Insulin Resistance bisphenol A 3.4816393666
MESH:D007674 Kidney Diseases Acetaminophen 2.3615629191 12587719
MESH:D008107 Liver Diseases Acetaminophen 1.6912969438 11587558 19784758 16611625 19014921 12587719 19460945 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D009410 Nerve Degeneration Rotenone 4.1215790535 17356569 18619942
MESH:D009421 Nervous System Malformations bisphenol A 4.3511399458 16427766
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D010049 Ovarian Diseases bisphenol A 5.4511985600
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010300 Parkinson Disease Rotenone 3.0719232380 16140633 15451049 16412576 11445065 18191903 19114014 18619942 11535288
MESH:D020734 Parkinsonian Disorders Rotenone 4.3815574749 18197244 15795934 15927086
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 4.4110548101
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 4.5320887781
MESH:D011471 Prostatic Neoplasms bisphenol A 3.3616740699
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D011629 Puberty, Precocious bisphenol A 5.2510548101
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D019966 Substance-Related Disorders bisphenol A 4.4516045194 16684133
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014591 Uterine Diseases bisphenol A 5.5314652134
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
Pathway ID Pathway Name
KEGG:04670 Leukocyte transendothelial migration
KEGG:04720 Long-term potentiation
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134910959
    • No data
    Releated disease ID Related disease Name
    PA443690Charcot-Marie-Tooth Disease
    Releated drug ID Related drug Name
    PA164743471adenosine triphosphate
    PA448334alprostadil
    PA449470epinephrine
    PA164749238exenatide
    Drug Bank Top

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    Syndromic Genes

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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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