AutismKB 2.0

Annotation Detail for AES


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Basic Information Top
Gene Symbol:AES ( AES-1,AES-2,ESP1,GRG,GRG5,TLE5 )
Gene Full Name: amino-terminal enhancer of split
Band: 19p13.3
Quick LinksEntrez ID:166; OMIM: 600188; Uniprot ID:AES_HUMAN; ENSEMBL ID: ENSG00000104964; HGNC ID: 307
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
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Pathway IDPathway Name
200106Regulation of Wnt-mediated beta catenin signaling and target gene transcription
200052Presenilin action in Notch and Wnt signaling
Pathway IDPathway Name
P00057Wnt signaling pathway
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D013196 Dihydrotestosterone Dihydrotestosterone results in increased expression of AES mRNAincreases expression 17023530
D001151 Arsenic Arsenic affects the expression of AES mRNAaffects expression 18414638
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of AES mRNAdecreases expression 15336504
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in increased expression of AES mRNAincreases expression 15003993
D002251 Carbon Tetrachloride Carbon Tetrachloride results in decreased expression of AES mRNAdecreases expression 17484886
D000431 Ethanol [Fish Oils co-treated with Ethanol] results in increased expression of AES mRNAaffects cotreatment|increases expression 17347304
D005395 Fish Oils [Fish Oils co-treated with Ethanol] results in increased expression of AES mRNAaffects cotreatment|increases expression 17347304
D006830 Hydralazine [Hydralazine co-treated with Valproic Acid] results in increased expression of AES mRNAaffects cotreatment|increases expression 17183730
C030667 methylazoxymethanol methylazoxymethanol results in increased expression of AES mRNAincreases expression 17107856
D010269 Paraquat Paraquat results in decreased expression of AES mRNAdecreases expression 16797015
D014212 Tretinoin Tretinoin results in increased expression of AES mRNAincreases expression 16054129
D014635 Valproic Acid [Hydralazine co-treated with Valproic Acid] results in increased expression of AES mRNAaffects cotreatment|increases expression 17183730
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Ethanol 9.3618926900 17676605
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 9.368875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.0719490988
MESH:D000138 Acidosis Ethanol 4.6911192467
MESH:D018246 Adrenocortical Adenoma Arsenic 5.4317306315
MESH:D000382 Agricultural Workers' Diseases Paraquat 3.9611874814
MESH:D020268 Alcohol-Induced Disorders, Nervous System Ethanol 5.5415451040 15451039
MESH:D000505 Alopecia Tretinoin 3.7315955085
MESH:D000550 Amblyopia Valproic Acid 5.4517688650
MESH:D000853 Anophthalmos Ethanol 5.0015513904
MESH:D001008 Anxiety Disorders Ethanol 9.3711141031
MESH:D001008 Anxiety Disorders Valproic Acid 9.3717497229
MESH:D020261 Arsenic Poisoning Arsenic 2.9016835338 12569548 16251483 18414634
MESH:D001169 Arthritis, Experimental Tretinoin 3.1616412693
MESH:D001172 Arthritis, Rheumatoid Tretinoin 2.2916292516
MESH:D001249 Asthma Tretinoin 2.3816456186
MESH:D050197 Atherosclerosis Arsenic 3.3312928151 19371607
MESH:D001321 Autistic Disorder Valproic Acid 1.9915238991 18177632 18558336 18940202 20603192 18775368 18985861 18396377 17507914 19232924 17157402 19460635 18316065 16609825 17688650
MESH:D001471 Barrett Esophagus Tretinoin 4.5616935849
MESH:D001714 Bipolar Disorder Valproic Acid 3.1420046352 17594078
MESH:D001778 Blood Coagulation Disorders Tretinoin 3.7516197459 16206674
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.498888407
MESH:D001943 Breast Neoplasms Tretinoin 2.2616443354 16873071 16166294
MESH:D001997 Bronchopulmonary Dysplasia Tretinoin 4.7816813970
MESH:D002056 Burns Ethanol 4.8316374292
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9516050911 16097048 16192424 18705752 3786805 16011737 10355542 16124888 16227642 15721981 15700767 15673190
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.6617687452 15504454
MESH:D018236 Carcinoma, Embryonal Tretinoin 5.3816168501
MESH:D006528 Carcinoma, Hepatocellular Arsenic 6.7916507464 17306315
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.7918788625
MESH:D006528 Carcinoma, Hepatocellular Ethanol 6.7918788625 15763234 15289165
MESH:D006528 Carcinoma, Hepatocellular Tretinoin 6.791917145
MESH:D002294 Carcinoma, Squamous Cell Arsenic 4.9215504454 18922899 17687452
MESH:D002294 Carcinoma, Squamous Cell Tretinoin 4.9216096774 16051514
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.2118640142
MESH:D006332 Cardiomegaly Ethanol 3.5119332462
MESH:D002318 Cardiovascular Diseases Arsenic 3.5417938729 19152805 15738583
MESH:D002340 Carotid Artery Diseases Arsenic 4.4316973168 18022660
MESH:D002386 Cataract Tretinoin 3.1717460283
MESH:D018290 Cervical Intraepithelial Neoplasia Tretinoin 4.7816129372
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.7520734317
MESH:D002822 Choriocarcinoma Tretinoin 5.3816461808
MESH:D002971 Cleft Lip Ethanol 3.6515513904
MESH:D002972 Cleft Palate Ethanol 6.3315513904
MESH:D002972 Cleft Palate Tretinoin 6.339407595
MESH:D003092 Colitis Tretinoin 3.8817035595
MESH:D019465 Craniofacial Abnormalities Ethanol 3.9819302082 11198716 15451039 10194807 15513904 15451040 11873399
MESH:D019465 Craniofacial Abnormalities Tretinoin 3.9816925845 9211117 10589399 9142499 9664655 9224671 14991402 8800419 17551590 9125849
MESH:D019465 Craniofacial Abnormalities Valproic Acid 3.988888407 17688650 16575769
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.573732212 15968718 11566570 2869522 19085960 4309450 16177239 17522070 7440962 9327722 16227642 6884620 19336974 15027814 7120509 10092053 21278145 10915739 15998439 6623471 7179309 3786805
MESH:D056486 Drug-Induced Liver Injury Ethanol 6.5711566570
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 6.5719641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.201851702
MESH:D004489 Edema, Cardiac Tretinoin 4.6818230668
MESH:D016889 Endometrial Neoplasms Tretinoin 3.1916569247
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.3317275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.133922381 16628512
MESH:D004827 Epilepsy Valproic Acid 3.0018234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.717562514 6254150 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.477750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.263659116
MESH:D004938 Esophageal Neoplasms Ethanol 2.7816704527
MESH:D005124 Eye Abnormalities Tretinoin 3.6816938888 9664655
MESH:D005234 Fatty Liver Carbon Tetrachloride 20.0961145 12631006 19224547 15959796 16045604 16239168 12795759 17595544
MESH:D005234 Fatty Liver Ethanol 20.0919236843 18620774 16409862
MESH:D005234 Fatty Liver Fish Oils 20.0918620774
MESH:D005234 Fatty Liver Valproic Acid 20.0919224547 14986274
MESH:D005235 Fatty Liver, Alcoholic Ethanol 5.8817920746
MESH:D005310 Fetal Alcohol Syndrome Ethanol 5.4916946407 15513904 15451040 10194807
MESH:D005315 Fetal Diseases Valproic Acid 5.1016575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.298888407 18558336
MESH:D005355 Fibrosis Carbon Tetrachloride 9.4018705752
MESH:D005355 Fibrosis Tretinoin 9.4017994277
MESH:D005534 Foot Diseases Arsenic 5.786392382
MESH:D005756 Gastritis Ethanol 4.9115046732
MESH:D005909 Glioblastoma Tretinoin 3.0917312396
MESH:D005911 Gliosis Paraquat 5.3811124998
MESH:D006258 Head and Neck Neoplasms Tretinoin 3.2716096774
MESH:D006317 Hearing Loss, Noise-Induced Tretinoin 5.3816084493
MESH:D006330 Heart Defects, Congenital Tretinoin 2.9614991402 9664655
MESH:D006505 Hepatitis Carbon Tetrachloride 3.7619900420 19110552
MESH:D006849 Hydrocephalus Valproic Acid 5.0617688650
MESH:D006930 Hyperalgesia Ethanol 8.3718783367
MESH:D006930 Hyperalgesia Tretinoin 8.3716870215
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7316899240
MESH:D017681 Hypereosinophilic Syndrome Tretinoin 4.7416778211
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.5917050553
MESH:D006949 Hyperlipidemias Fish Oils 4.9015752949
MESH:D006968 Hypersensitivity, Delayed Fish Oils 5.7211484837
MESH:D006973 Hypertension Arsenic 2.919931084 11953799 16076760
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.2615338365
MESH:D046110 Hypertension, Pregnancy-Induced Hydralazine 4.8016612254
MESH:D006987 Hypesthesia Arsenic 5.7816093927
MESH:D007248 Infertility, Male Paraquat 3.344850670
MESH:D007410 Intestinal Diseases Tretinoin 3.9417994277
MESH:D007569 Jaw Abnormalities Ethanol 10.8015513904
MESH:D007569 Jaw Abnormalities Tretinoin 10.8017551590 15992940
MESH:D007642 Keratosis Arsenic 5.1812749816 16930632
MESH:D007859 Learning Disorders Ethanol 4.3915451040
MESH:D007938 Leukemia Tretinoin 2.8317143497
MESH:D007951 Leukemia, Myeloid Tretinoin 3.8416482212 19285840 16932348
MESH:D015470 Leukemia, Myeloid, Acute Tretinoin 3.9619850784 16294345 17596541
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 3.9616294345 17596541
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 8.0517339181
MESH:D015473 Leukemia, Promyelocytic, Acute Tretinoin 8.0516935935 17712046 17506722 17217047 19029980 9834237 16788101 12679006 17301526 17368321 17649720 16331271 16823087 15748426 19225113 16140955 17294898 16766008 17361223 19075265 19642359 16891316 19035177 17339181 17107899
MESH:D017880 Limb Deformities, Congenital Ethanol 8.6517676605
MESH:D017880 Limb Deformities, Congenital Tretinoin 8.659224671
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 7.0517174718 16943688 16239168 16221502 17334410 11903743 11408273 17157831 21278145
MESH:D008103 Liver Cirrhosis Ethanol 7.0515289165
MESH:D008104 Liver Cirrhosis, Alcoholic Ethanol 5.2918295389
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 3.6717761835 16638106 18210741 16015684 17557913 14512876 15123356 12389079 17708605 17869086 17805973 15370692 18429990 17698563 15818738 17481882 18205269 14716496 18412020 12445418 18279442 17714472 16027843 18472094 12632514 17823541 10355542 18395095 15730626 18263696 18395914 18376398 17721639 17900296 12546737 18420326 15362042 16033810 16248980 17976157 15673190 14716833 12898905 18251166 18339082 12649538 15338365 15925388 18166357 15931870 18481824 18472332 20821823 15052691 15876570 17922224 11481614 18006644 18418968 16011737 12586293 16136751 12667390 12666154 17525996 16097048 14724832 18277467 15893842 15959796 15650968 14748882 18156304 14620537 16192424 18054572 12632512 12609069 17631135 15996030 12958196 18187930 17565644 17766677 16116963 15057751 18705752 18317297 17944888 12741479 17640975 12445421 13678700
MESH:D008106 Liver Cirrhosis, Experimental Ethanol 3.6718166357
MESH:D008106 Liver Cirrhosis, Experimental Tretinoin 3.6718397230 16248980
MESH:D008107 Liver Diseases Arsenic 4.3411134558
MESH:D008107 Liver Diseases Carbon Tetrachloride 4.3416246199 16964402 15830285 17285989 15720792
MESH:D008108 Liver Diseases, Alcoholic Ethanol 4.8317347304 17207112
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3415123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8214706259 16899240
MESH:D008113 Liver Neoplasms Arsenic 4.9116368122
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.9119294768
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 2.6912014681 15583823
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.4817228818
MESH:D008175 Lung Neoplasms Arsenic 2.2017306315 19168569 17976673
MESH:D008527 Medulloblastoma Tretinoin 2.8317453147
MESH:D008545 Melanoma Tretinoin 1.9616752155
MESH:D008569 Memory Disorders Ethanol 4.3515451040 18411066
MESH:D008591 Meningomyelocele Tretinoin 4.6016940565
MESH:D008881 Migraine Disorders Valproic Acid 3.2918765137 18803445
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.178888407
MESH:D009190 Myelodysplastic Syndromes Tretinoin 7.6417596541
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 7.6417596541
MESH:D017202 Myocardial Ischemia Arsenic 4.0915371236
MESH:D009369 Neoplasms Tretinoin 2.4716594593 16946489
MESH:D009410 Nerve Degeneration Paraquat 3.8216893418
MESH:D009421 Nervous System Malformations Tretinoin 3.949125849
MESH:D009436 Neural Tube Defects Arsenic 12.7216620997
MESH:D009436 Neural Tube Defects Tretinoin 12.729142499
MESH:D009436 Neural Tube Defects Valproic Acid 12.728888407 16359493
MESH:D020078 Neurogenic Inflammation Arsenic 4.5217056641
MESH:D010051 Ovarian Neoplasms Arsenic 5.1317306315
MESH:D010051 Ovarian Neoplasms Tretinoin 5.1316936753
MESH:D010146 Pain Tretinoin 3.0216870215
MESH:D010190 Pancreatic Neoplasms Ethanol 5.6012384795
MESH:D010190 Pancreatic Neoplasms Tretinoin 5.6015976015
MESH:D010300 Parkinson Disease Paraquat 2.8616510128 16140633 15451049 15824117 11445065 11181820 12911755 11124998
MESH:D010302 Parkinson Disease, Secondary Paraquat 4.6116190885
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.3416093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.186392382 15371236 16905509
MESH:D011014 Pneumonia Paraquat 4.6512504350
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.0220603192
MESH:D011471 Prostatic Neoplasms Arsenic 3.5916140617
MESH:D011507 Proteinuria Arsenic 9.7821343184
MESH:D011507 Proteinuria Tretinoin 9.7816636307
MESH:D019310 Pseudolymphoma Valproic Acid 4.7612752131 11422049
MESH:D011625 Pterygium Tretinoin 4.9916723453
MESH:D011658 Pulmonary Fibrosis Paraquat 2.9617997886 16324872
MESH:D012128 Respiratory Distress Syndrome, Adult Paraquat 4.0511700416
MESH:D012135 Respiratory Sounds Paraquat 4.2311874814
MESH:D012162 Retinal Degeneration Paraquat 3.9716458197
MESH:D012208 Rhabdomyosarcoma Tretinoin 11.3716283617 16116481
MESH:D012208 Rhabdomyosarcoma Valproic Acid 11.3719155313
MESH:D012559 Schizophrenia Valproic Acid 2.0815737665 19110320
MESH:D012640 Seizures Ethanol 6.499754883
MESH:D012640 Seizures Valproic Acid 6.491511512 11044598 14763951 3137016 15475178 11738929 16876388 17978042
MESH:D012871 Skin Diseases Arsenic 2.7816353154 6392382 19834688 17938729 18709164 16702368 17050553 17453740 17548696 16759981 15952646
MESH:D012878 Skin Neoplasms Arsenic 9.9115504454 17976673 19538983 17050553 17029826 16251483
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 9.918532709
MESH:D012878 Skin Neoplasms Tretinoin 9.9116467112
MESH:D016135 Spinal Dysraphism Valproic Acid 3.8919490988
MESH:D013226 Status Epilepticus Valproic Acid 4.7612833885
MESH:D013274 Stomach Neoplasms Ethanol 2.6518456281
MESH:D013274 Stomach Neoplasms Tretinoin 2.6517261132
MESH:D013276 Stomach Ulcer Ethanol 3.6717918041 9211565 11906479 9562338 16755016 17189318
MESH:D013375 Substance Withdrawal Syndrome Ethanol 4.399754883
MESH:D013964 Thyroid Neoplasms Tretinoin 3.1317045167 16026305
MESH:D014062 Tongue Neoplasms Tretinoin 3.9216051514
MESH:D014178 Translocation, Genetic Valproic Acid 5.4517262798
MESH:D014376 Tuberculosis Tretinoin 3.3116040207
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 4.713119515
MESH:D001749 Urinary Bladder Neoplasms Arsenic 2.8617306315 19322015 19429237 11144890 18640142 17976673 15987713
MESH:D014564 Urogenital Abnormalities Valproic Acid 4.828888407
MESH:D002583 Uterine Cervical Neoplasms Tretinoin 3.8116129372
MESH:D014604 Uveal Neoplasms Tretinoin 4.8316752155
MESH:D014652 Vascular Diseases Arsenic 4.9317056641
MESH:D014820 Vitiligo Tretinoin 4.2216761959
MESH:D009396 Wilms Tumor Tretinoin 4.0916287080
No data
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24606
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    No data
    Drug Bank Top

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    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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