AutismKB 2.0

Annotation Detail for RAPGEF6


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Basic Information Top
Gene Symbol:RAPGEF6 ( DKFZp667N084,DKFZp686I15116,KIA001LB,PDZ-GEF2,PDZGEF2,RA-GEF-2,RAGEF2 )
Gene Full Name: Rap guanine nucleotide exchange factor (GEF) 6
Band: 5q31.1
Quick LinksEntrez ID:51735; OMIM: 610499; Uniprot ID:RPGF6_HUMAN; ENSEMBL ID: ENSG00000158987,ENSG00000217128; HGNC ID: 20655
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 RAPGEF6 mRNAdecreases expression 19933214
D017638 Asbestos, Crocidolite Asbestos, Crocidolite affects the expression of RAPGEF6 mRNAaffects expression 17331233
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of RAPGEF6 mRNAdecreases expression 19150397
D007213 Indomethacin Indomethacin results in decreased expression of RAPGEF6 mRNAdecreases expression 16984733
D012643 Selenium Selenium results in decreased expression of RAPGEF6 mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of RAPGEF6 mRNAincreases expression 19465110
C025643 vinclozolin vinclozolin affects the expression of RAPGEF6 mRNAaffects expression 19015723
D014810 Vitamin E Vitamin E results in decreased expression of RAPGEF6 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1811752688 14514962 15322242
MESH:D000230 Adenocarcinoma Indomethacin 2.8316537180
MESH:D000236 Adenoma Indomethacin 3.5811497255
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7116835633
MESH:D016301 Alveolar Bone Loss Indomethacin 5.7517225004
MESH:D000544 Alzheimer Disease Indomethacin 2.7417627676 15579461
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8319015723
MESH:D001014 Aortic Aneurysm Indomethacin 5.1310231640
MESH:D017544 Aortic Aneurysm, Abdominal Indomethacin 5.1810388637
MESH:D018771 Arthralgia Indomethacin 5.552160914
MESH:D001172 Arthritis, Rheumatoid Indomethacin 2.8711248219
MESH:D001477 Bartter Syndrome Indomethacin 5.2910684365
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:D001929 Brain Edema Indomethacin 5.4011481608
MESH:D002545 Brain Ischemia Indomethacin 4.7512524144
MESH:D001943 Breast Neoplasms Indomethacin 2.1717401462
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.1720435547
MESH:D002056 Burns Indomethacin 5.0110459503
MESH:D002100 Cachexia Indomethacin 5.3411239499 16537180 15141370 15625704
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.2416050911
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Indomethacin 2.4716391822
MESH:D018827 Carcinoma, Lewis Lung Indomethacin 5.0611053908
MESH:D018276 Carcinoma, Medullary Indomethacin 5.6918791128 11352223 14736730
MESH:D002292 Carcinoma, Renal Cell Indomethacin 3.4717341418
MESH:D002294 Carcinoma, Squamous Cell Indomethacin 2.9015482327 12636206
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18670907 18850075
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8820889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002764 Cholecystitis Indomethacin 5.5511181007
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.198697196 12621046 16354765 15668235 15340226
MESH:D003092 Colitis Selenium 4.0917936198
MESH:D003110 Colonic Neoplasms Indomethacin 2.6215936596 15786552 15637740 11260862 15963497 15625704
MESH:D015179 Colorectal Neoplasms Indomethacin 2.3611197048 12606626 17054584 18059344
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D018352 Coronavirus Infections Indomethacin 6.0917302372
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 2.5420055451 10048152 15322242
MESH:D019465 Craniofacial Abnormalities Vitamin E 2.5419769572
MESH:D003456 Cryptorchidism vinclozolin 4.6214966744
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003967 Diarrhea Indomethacin 4.077237001 7907874
MESH:D056486 Drug-Induced Liver Injury Selenium 3.9715131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.9720420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9311462148
MESH:D004374 Ductus Arteriosus, Patent Indomethacin 5.4917190690 16326151 16133044 18446180 18043480 12774134
MESH:D004381 Duodenal Ulcer Indomethacin 4.4217151854 17045617 17351913 17329845 16699067 11535926 10671773 11991626 17202747 11595431 11595415
MESH:C538011 Eales disease Vitamin E 5.089068938
MESH:D004487 Edema Indomethacin 7.738985016 19703484 7907874 10653021 16100529 8273558 7990266
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.7311000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004715 Endometriosis Indomethacin 9.8415652904
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 9.8410568697 9294722
MESH:D019446 Endotoxemia Indomethacin 4.8418509659
MESH:D004751 Enteritis Indomethacin 5.1210567023 17763956 16328016
MESH:D020345 Enterocolitis, Necrotizing Indomethacin 5.2917980183
MESH:D004802 Eosinophilia Indomethacin 4.3611298111
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.8220426865
MESH:D004938 Esophageal Neoplasms Indomethacin 4.8211005569
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005334 Fever Indomethacin 4.3510431976 11852909 17627676
MESH:D005354 Fibrosarcoma Indomethacin 5.2310962813
MESH:D005355 Fibrosis Indomethacin 9.8617994277
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.8620067830
MESH:D005499 Folliculitis Indomethacin 5.5511298111
MESH:D005756 Gastritis Indomethacin 5.1215046732
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.2716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.6816417039
MESH:D005909 Glioblastoma Indomethacin 3.7112870263
MESH:D005910 Glioma Indomethacin 3.3016487511 18371953
MESH:D005923 Glomerulosclerosis, Focal Segmental Indomethacin 4.4811849393
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006073 Gout Indomethacin 5.6911248219
MESH:D006258 Head and Neck Neoplasms Indomethacin 3.9015482327
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9510048152 11294989
MESH:D006330 Heart Defects, Congenital Vitamin E 6.9516080930
MESH:D006333 Heart Failure Selenium 3.2117162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006501 Hepatic Encephalopathy Indomethacin 4.8115633222
MESH:D019698 Hepatitis C, Chronic Indomethacin 4.9615135802
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2015340226 12621046 16120746
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.7716490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.3514716179
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4218606429 15340226 8697196 16959395 16354765
MESH:D006930 Hyperalgesia Indomethacin 3.9612727271
MESH:D034321 Hyperamylasemia Indomethacin 6.0917883296
MESH:D006940 Hyperemia Indomethacin 5.3412524144
MESH:D006949 Hyperlipidemias Indomethacin 4.4217546600
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818850075 18670907
MESH:D007077 Ileal Diseases Indomethacin 5.4018306037 10574470
MESH:D007079 Ileitis Indomethacin 5.6910651667 16133968 10647630
MESH:D007235 Infant, Premature, Diseases Indomethacin 5.7516133044
MESH:D007248 Infertility, Male vinclozolin 3.1916467254
MESH:D007249 Inflammation Indomethacin 5.497812673 12568917 3291741
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 5.4912878042 12200463
MESH:D007251 Influenza, Human Selenium 12.2516624496
MESH:D007251 Influenza, Human Vitamin E 12.2516624496
MESH:D007410 Intestinal Diseases Indomethacin 4.6310210152 11713966 18236018 17329856 11855677 17994277 11686837 15831440 15610444
MESH:D019586 Intracranial Hypertension Indomethacin 5.7515241188
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007579 Jejunal Diseases Indomethacin 5.4010574470 18306037 16133968
MESH:D007674 Kidney Diseases Indomethacin 6.7817190690
MESH:D007674 Kidney Diseases Vitamin E 6.7812488133
MESH:D007676 Kidney Failure, Chronic Selenium 4.1316518626
MESH:D016773 Leishmaniasis, Cutaneous Indomethacin 4.1012228301 10320625 11703811
MESH:D015464 Leukemia, Myelogenous, Chronic, BCR-ABL Positive Indomethacin 4.1016572323 15631656 10785260
MESH:D015470 Leukemia, Myeloid, Acute Indomethacin 2.6718360721
MESH:D007964 Leukocytosis Indomethacin 5.7516537180
MESH:D007969 Leukomalacia, Periventricular Indomethacin 6.0917980183
MESH:D007984 Leydig Cell Tumor vinclozolin 5.0716417039
MESH:D008101 Liver Abscess, Amebic Indomethacin 6.0911479899
MESH:D008106 Liver Cirrhosis, Experimental Indomethacin 3.6718194892
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6712878042
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 3.6716169303
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.7916984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2412151625
MESH:D008171 Lung Diseases Vitamin E 3.3316863852
MESH:D055370 Lung Injury Asbestos, Crocidolite 4.3317365036
MESH:D008175 Lung Neoplasms Indomethacin 3.5911497255 11053908 16537180
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5911884234 19555203
MESH:D008175 Lung Neoplasms Vitamin E 3.5911062179
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9015318939
MESH:D008654 Mesothelioma Asbestos, Crocidolite 6.6118303189 16166281 16966607
MESH:D008654 Mesothelioma Selenium 6.6115107826
MESH:D008881 Migraine Disorders Indomethacin 3.8411903285
MESH:D009062 Mouth Neoplasms Indomethacin 4.1712636206
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D009362 Neoplasm Metastasis Indomethacin 3.2511239499 16537180 11053908
MESH:D009374 Neoplasms, Experimental Indomethacin 4.4410663608 15625704
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D019636 Neurodegenerative Diseases Indomethacin 4.1412349958
MESH:D007752 Obstetric Labor, Premature Indomethacin 5.556374098
MESH:D010003 Osteoarthritis Indomethacin 3.807009135
MESH:D010146 Pain Indomethacin 3.6617627676 13679232 17440234 3291741
MESH:D010149 Pain, Postoperative Indomethacin 5.0612538197 18702446
MESH:D010195 Pancreatitis Indomethacin 4.1817883296 15028970
MESH:D010257 Paraneoplastic Syndromes Indomethacin 6.0916537180
MESH:D020734 Parkinsonian Disorders Indomethacin 4.3512349958
MESH:D051302 Paroxysmal Hemicrania Indomethacin 6.0911903285
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010437 Peptic Ulcer Indomethacin 5.4911148446
MESH:D010518 Periodontitis Indomethacin 5.2917225004
MESH:D010954 Plasmacytoma Selenium 5.2715087411
MESH:D010995 Pleural Diseases Asbestos, Crocidolite 5.2010923243
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D047928 Premature Birth Indomethacin 5.4317000239
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.6411896295 11118676 11399792 11222880
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.6418042343 18220299 19015723
MESH:D011469 Prostatic Diseases vinclozolin 5.2718220299
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2615084515
MESH:D011472 Prostatitis vinclozolin 5.2718629315
MESH:D011507 Proteinuria Indomethacin 4.4211849393
MESH:D011658 Pulmonary Fibrosis Asbestos, Crocidolite 3.1017365031 17975199 15814490 17322281
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012871 Skin Diseases Vitamin E 2.4918709164
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1416192470
MESH:D013272 Stomach Diseases Indomethacin 4.7517638125 15038085 10192188 17160473 16280098 18209964 16184426 10486359 18545984 10215738 16113693 15472012 17207306
MESH:D013274 Stomach Neoplasms Indomethacin 2.3615609394
MESH:D013276 Stomach Ulcer Indomethacin 3.8218209962 16755016 10878458 16631530 18181030 15138204 1323529 18431645 11595431 15104355 11595415 18087811 17657623 18299717 18237397 14567935 18193104 16397915 16252198 11906479 12500499 12077510 12787963 17977527 16169175 17895592 10423059 10750652 11523592 12498302 17654042 11729361 18726076 17135157 16934674 11145282 15255614 12467913 18543354 16150113 17627676 17918041
MESH:D020521 Stroke Vitamin E 3.7116517955
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms Indomethacin 3.7618791128 11352223 14736730
MESH:D014456 Ulcer Indomethacin 5.2310574470 17380554
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D014839 Vomiting Indomethacin 5.1211897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134885793
    • No data
    Releated disease ID Related disease Name
    PA447216Schizophrenia
    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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