AutismKB 2.0

Annotation Detail for ARHGEF6


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Basic Information Top
Gene Symbol:ARHGEF6 ( COOL2,Cool-2,KIAA0006,MRX46,PIXA,alpha-PIX,alphaPIX )
Gene Full Name: Rac/Cdc42 guanine nucleotide exchange factor (GEF) 6
Band: Xq26.3
Quick LinksEntrez ID:9459; OMIM: 300267; Uniprot ID:ARHG6_HUMAN; ENSEMBL ID: ENSG00000129675; HGNC ID: 685
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04810Regulation of actin cytoskeleton
hsa05212Pancreatic cancer
Pathway IDPathway Name
Signaling by GPCR
Signalling by NGF
Cell junction organization
Signaling by Rho GTPases
Pathway IDPathway Name
200098Class I PI3K signaling events
200165Regulation of RAC1 activity
200057CDC42 signaling events
200059Regulation of CDC42 activity
No data
Pathway IDPathway Name
500125Regulation of cytoskeletal remodeling and cell spreading by IPP complex components
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1746Hypertension, Pulmonary
1934Cancer
No data
No data
Desease Name
Mental retardation, X-linked nonspecific, type 46
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of ARHGEF6 mRNAdecreases expression 20064835
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of ARHGEF6 mRNAdecreases expression 17484886
C014347 decitabine decitabine results in increased expression of ARHGEF6 mRNAincreases expression 15251184
C014347 decitabine [Tetrachlorodibenzodioxin co-treated with decitabine] results in increased expression of ARHGEF6 mRNAaffects cotreatment|increases expression 15251184
D002945 Cisplatin Cisplatin results in decreased expression of ARHGEF6 proteindecreases expression 16803524
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ARHGEF6 mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in decreased expression of ARHGEF6 mRNAaffects binding|decreases expression|increases activity 19710929
D018038 Sodium Selenite Sodium Selenite results in increased expression of ARHGEF6 mRNAincreases expression 18175754
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with decitabine] results in increased expression of ARHGEF6 mRNAaffects cotreatment|increases expression 15251184
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of ARHGEF6 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of ARHGEF6 mRNAincreases expression 15251184
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1815322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.3217505938
MESH:D058186 Acute Kidney Injury Cisplatin 4.2017670903 12690470 15814532
MESH:D055371 Acute Lung Injury pirinixic acid 3.3818653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 7.3920127859 20464547
MESH:D000230 Adenocarcinoma Cisplatin 7.3917638652 11798837
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 7.3914692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.786695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 11.0516434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 11.0516835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1711748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.3819183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.7711256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8015885639
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.5919483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.5912125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1715340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9115746008
MESH:D019046 Bone Marrow Neoplasms Cisplatin 5.2614601052
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D001943 Breast Neoplasms Cisplatin 1.9919526202 18382427
MESH:D001943 Breast Neoplasms decitabine 1.9919208741 18320071
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.9920435547
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 4.0816124888 16227642 16011737 3786805 16097048 15673190 16050911 15700767 18705752 15721981 10355542 16192424
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9916835633
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 3.3218788625
MESH:D006528 Carcinoma, Hepatocellular Cisplatin 3.3217982673
MESH:D002289 Carcinoma, Non-Small-Cell Lung Cisplatin 3.1012023789 16685392
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 7.9620419170
MESH:D002294 Carcinoma, Squamous Cell Cisplatin 7.9618337622 17066447 6189445
MESH:D002294 Carcinoma, Squamous Cell decitabine 7.9619215824
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4916120746 18850075 18670907
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 8.3316919318 17110522 17681005 17333356 16105132 15861022 11677210
MESH:D002779 Cholestasis pirinixic acid 8.3319176532
MESH:D019457 Chromosome Breakage Sodium Selenite 5.0615894690
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1916354765 12621046 15668235 15340226 8697196
MESH:D003110 Colonic Neoplasms decitabine 2.3717616700
MESH:D015179 Colorectal Neoplasms Cisplatin 2.8015273666
MESH:D015179 Colorectal Neoplasms decitabine 2.8018981723
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2714669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5218249437
MESH:D003920 Diabetes Mellitus Sodium Selenite 3.9916285004
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.5716227642 7179309 4309450 15027814 7440962 10092053 11566570 6884620 6623471 19336974 9327722 7120509 15998439 3732212 17522070 3786805 16177239 2869522 19085960 10915739 15968718 21278145
MESH:D056486 Drug-Induced Liver Injury Sodium Selenite 6.5715131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5720420201
MESH:D004362 Drug Toxicity Cisplatin 8.7712649298 19839026 15033597 12231392
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 8.7711462148
MESH:D004487 Edema pirinixic acid 7.3512083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.3512711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2818230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.4712538720
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.4919294695
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.259294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 4.7816530937
MESH:D004938 Esophageal Neoplasms Cisplatin 4.7816785472 15464296 16481741 15173087 17638652
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1911564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 14.5016045604 61145 15959796 16239168 12795759 19224547 12631006 17595544
MESH:D005234 Fatty Liver Ethinyl Estradiol 14.5015345470
MESH:D005234 Fatty Liver pirinixic acid 14.5019236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7611858732
MESH:D005355 Fibrosis Carbon Tetrachloride 9.6418705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.6420067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9710696789
MESH:D006258 Head and Neck Neoplasms Cisplatin 8.5415102660 15464296
MESH:D006258 Head and Neck Neoplasms decitabine 8.5419215824
MESH:D034381 Hearing Loss Cisplatin 4.5119898482
MESH:D006319 Hearing Loss, Sensorineural Cisplatin 4.6215464296
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.8220471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.8211294989 10048152
MESH:D006333 Heart Failure pirinixic acid 2.6720558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5811000095
MESH:D006505 Hepatitis Carbon Tetrachloride 3.8819110552 19900420
MESH:D006529 Hepatomegaly pirinixic acid 9.3019772884 16221962 18467677 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.3016120746 15340226 12621046
MESH:D006689 Hodgkin Disease Cisplatin 3.8016200630 16170182
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.4218606429 16959395 16354765 8697196 15340226
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.8716899240
MESH:D006943 Hyperglycemia pirinixic acid 3.4120558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9818670907 18850075
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3915338365
MESH:D007021 Hypospadias Ethinyl Estradiol 4.1216569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.7212013081
MESH:D007248 Infertility, Male decitabine 7.2317581917
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.2317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9612200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 7.8116306350
MESH:D007333 Insulin Resistance Sodium Selenite 7.8114714311
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5816580747
MESH:D007673 Kidney Cortex Necrosis Cisplatin 5.5215464296
MESH:D007674 Kidney Diseases Cisplatin 3.3612649298 18289764 15190930 12231392 19839026
MESH:D007683 Kidney Tubular Necrosis, Acute Cisplatin 5.1711231351
MESH:D007938 Leukemia decitabine 3.1818980019 19235587
MESH:D007951 Leukemia, Myeloid decitabine 4.2419117987 17236224 18454857
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4118206229 17679729 19387464 18460780 18704418 19010910
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.8418055864
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.9217157831 17174718 16943688 17334410 21278145 16221502 16239168 11903743 11408273
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.5118472094 12667390 18277467 12958196 15931870 17631135 18210741 17761835 18376398 15362042 16248980 12632512 16638106 15673190 17922224 12586293 18251166 16192424 12898905 18187930 15338365 18429990 18412020 12632514 17805973 17525996 17557913 16027843 16136751 18156304 14748882 15730626 17481882 17708605 12546737 18418968 17869086 15123356 18472332 15996030 15818738 17766677 17714472 12741479 18395914 18339082 12649538 15650968 17900296 10355542 14724832 17698563 18054572 15893842 14716496 14716833 18006644 15876570 12445418 16116963 12445421 15057751 17944888 17823541 18481824 15370692 15959796 11481614 17640975 16011737 17565644 13678700 14620537 18395095 16015684 12389079 15052691 18420326 20821823 18263696 18205269 17721639 18279442 15925388 18166357 18705752 16033810 18317297 17976157 12609069 16097048 14512876 12666154
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.5115474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.5112878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1315830285 16964402 15720792 17285989 16246199
MESH:D017093 Liver Failure Carbon Tetrachloride 4.4715123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.9216899240 14706259
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 11.3220195826 21137059
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 11.3219294768
MESH:D008113 Liver Neoplasms pirinixic acid 11.3220007298 15890375 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 11.3216984957
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 6.2315583823 12014681
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2312151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 3.5520135361 20464547 6695378 17053015 20869020 18520028 18816296 20064080 18569708
MESH:D008175 Lung Neoplasms Cisplatin 3.5511798837 6189445 17225452
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 3.5511884234 19555203
MESH:D008223 Lymphoma decitabine 3.5819470736
MESH:D016393 Lymphoma, B-Cell Sodium Selenite 4.3214737004
MESH:D008545 Melanoma Cisplatin 3.7216432458 12883367 16809738 18332650 18176117 15577323 18505091 17023156 12374674 17761969 12393984 11135225 16248763
MESH:D008545 Melanoma decitabine 3.7216505122 17785578
MESH:D018328 Melanoma, Amelanotic Cisplatin 5.1115990972
MESH:D038901 Mental Retardation, X-Linked marker/mechanism
MESH:D008654 Mesothelioma Cisplatin 3.3217638057
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.3716381670
MESH:D009101 Multiple Myeloma decitabine 3.5118172295
MESH:D009135 Muscular Diseases pirinixic acid 3.8116239165
MESH:D009190 Myelodysplastic Syndromes decitabine 3.5116882708 19157545 18608210 19010910
MESH:D009203 Myocardial Infarction pirinixic acid 2.2219151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2112213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1316411023
MESH:D009369 Neoplasms Benzo(a)pyrene 12.7811141357
MESH:D009369 Neoplasms Cisplatin 12.7816773208
MESH:D009369 Neoplasms decitabine 12.7819116145 17925555 19470736
MESH:D009369 Neoplasms pirinixic acid 12.7817405874
MESH:D009395 Nephritis, Interstitial Cisplatin 4.8715464296
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4914600291
MESH:D009447 Neuroblastoma Cisplatin 3.568761367
MESH:D017599 Neuroectodermal Tumors Cisplatin 5.038761367
MESH:D009765 Obesity pirinixic acid 1.8620558911
MESH:D010051 Ovarian Neoplasms Cisplatin 5.3715464296 19769630 17225452 6897625
MESH:D010051 Ovarian Neoplasms decitabine 5.3719259094 19331143
MESH:D010190 Pancreatic Neoplasms Cisplatin 5.8219003803
MESH:D010190 Pancreatic Neoplasms decitabine 5.8219294695
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.9511578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6212520081
MESH:D010523 Peripheral Nervous System Diseases Cisplatin 4.5915464296
MESH:D010997 Pleural Neoplasms Cisplatin 5.7217638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.5311118676 11222880 11896295 11399792
MESH:D055728 Primary Myelofibrosis decitabine 5.0317616702
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1717292933
MESH:D011471 Prostatic Neoplasms Sodium Selenite 3.1718760546
MESH:D011537 Pruritus Ethinyl Estradiol 3.6516919318 15861022
MESH:D051437 Renal Insufficiency Cisplatin 4.7115464296
MESH:D015427 Reperfusion Injury pirinixic acid 2.4919058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1218990726
MESH:D012208 Rhabdomyosarcoma decitabine 4.6619155313
MESH:D012512 Sarcoma, Ewing's Cisplatin 4.7114601052
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 5.8010029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 5.8016192470
MESH:D055752 Small Cell Lung Carcinoma Cisplatin 5.7215464296
MESH:D013088 Spermatocele Ethinyl Estradiol 4.3216709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 3.552093021 20155912
MESH:D013274 Stomach Neoplasms Cisplatin 3.5517522103 18396642 15958060
MESH:D013274 Stomach Neoplasms decitabine 3.5519037991
MESH:D013736 Testicular Neoplasms Cisplatin 4.8917225452 15464296
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.8811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.3715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2812697716
MESH:D013964 Thyroid Neoplasms decitabine 3.5117967635
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 8.8917053015
MESH:D001749 Urinary Bladder Neoplasms Cisplatin 8.8915464296 12973940 17225452
MESH:D001749 Urinary Bladder Neoplasms decitabine 8.8917616700 19087683
MESH:D002583 Uterine Cervical Neoplasms Cisplatin 4.4316803524
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.5814692618
MESH:D014604 Uveal Neoplasms decitabine 5.2917785578
MESH:D014625 Vaginal Neoplasms Cisplatin 4.9215577323
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9712125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.7815869587 14671159
MESH:D014839 Vomiting Cisplatin 5.0911897121
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6215886252
Pathway ID Pathway Name
REACT:20676 Cell junction organization
KEGG:05212 Pancreatic cancer
KEGG:04810 Regulation of actin cytoskeleton
REACT:14797 Signaling by GPCR
REACT:11044 Signaling by Rho GTPases
REACT:11061 Signalling by NGF
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24976
  • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA445204Ovarian Neoplasms
    Releated drug ID Related drug Name
    PA448926chlorambucil
    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