AutismKB 2.0

Annotation Detail for AP1S2


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Basic Information Top
Gene Symbol:AP1S2 ( MGC:1902,MRX59,SIGMA1B )
Gene Full Name: adaptor-related protein complex 1, sigma 2 subunit
Band: Xp22.2
Quick LinksEntrez ID:8905; OMIM: 300629; Uniprot ID:AP1S2_HUMAN; ENSEMBL ID: ENSG00000182287; HGNC ID: 560
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
Pathway IDPathway Name
Membrane Trafficking
HIV Infection
No data
No data
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Mental retardation, X-linked 59
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 AP1S2 mRNAdecreases expression 19933214
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of AP1S2 mRNAdecreases expression 18648102
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 increased expression of AP1S2 mRNAincreases expression 19150397
C006780 bisphenol A bisphenol A results in increased expression of AP1S2 mRNAincreases expression 16474171
D002251 Carbon Tetrachloride Carbon Tetrachloride results in increased expression of AP1S2 mRNAincreases expression 17484886
C014347 decitabine decitabine results in increased expression of AP1S2 mRNAincreases expression 19194470
D004958 Estradiol Estradiol results in increased expression of AP1S2 mRNAincreases expression 16474171
D019833 Genistein Genistein results in increased expression of AP1S2 mRNAincreases expression 16474171
D011078 Polychlorinated Biphenyls Polychlorinated Biphenyls results in increased expression of AP1S2 mRNAincreases expression 16474171
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of AP1S2 mRNAdecreases expression 17101203
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of AP1S2 mRNAincreases expression 11489354
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of AP1S2 mRNAdecreases expression 19933214
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0815322242 14514962 11752688
MESH:D000230 Adenocarcinoma Estradiol 4.5911473722
MESH:D000230 Adenocarcinoma Genistein 4.5911473722
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.843712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.6116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1111748828
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.281440618 11289319
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.2112125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8715746008
MESH:D001862 Bone Resorption bisphenol A 4.0311985600
MESH:D001943 Breast Neoplasms bisphenol A 2.3817123778
MESH:D001943 Breast Neoplasms decitabine 2.3818320071 19208741
MESH:D001943 Breast Neoplasms Estradiol 2.3818497071 12948864 17261762 17289903 14630087 16675129 17018787 19861407
MESH:D001943 Breast Neoplasms Genistein 2.3816873071 16541309 17200150
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.3820435547
MESH:D002181 Candidiasis, Vulvovaginal Estradiol 4.7016111702
MESH:D002252 Carbon Tetrachloride Poisoning Carbon Tetrachloride 3.9916227642 16011737 15673190 18705752 15700767 3786805 16192424 10355542 16050911 16097048 15721981 16124888
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9316835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 6.787296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Carbon Tetrachloride 6.7818788625
MESH:D006528 Carcinoma, Hepatocellular Estradiol 6.7816924424
MESH:D006528 Carcinoma, Hepatocellular Genistein 6.7816924424
MESH:D002278 Carcinoma in Situ bisphenol A 5.2317123778
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.757296757
MESH:D002294 Carcinoma, Squamous Cell decitabine 2.6319215824
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4518670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases Genistein 3.4216332659
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 11.857505956
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 11.8520889678
MESH:D002471 Cell Transformation, Neoplastic Estradiol 11.8518566989
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.2719486331 9022650
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1616354765 15668235 15340226 12621046 8697196
MESH:D003110 Colonic Neoplasms decitabine 3.9817616700
MESH:D003110 Colonic Neoplasms Genistein 3.9817182828
MESH:D015179 Colorectal Neoplasms decitabine 2.9418981723
MESH:D015179 Colorectal Neoplasms Polychlorinated Biphenyls 2.9415531428
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2114669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003704 Dementia Polychlorinated Biphenyls 4.8716140633
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.0114531868 2524372 11906362 8156756 11298694 18759878 8970840 12868966
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.672952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Genistein 4.4516647724
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 4.4517107852
MESH:D003928 Diabetic Nephropathies Estradiol 3.5619279558
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.4418289764 11289319 18692083 18648102 9653073 6482804 8291058 9328219 9022650 16192314 7440962 6679447 1440618
MESH:D056486 Drug-Induced Liver Injury Carbon Tetrachloride 6.4410915739 17522070 10092053 19085960 15027814 19336974 21278145 9327722 7120509 15968718 3732212 7440962 11566570 4309450 6884620 2869522 7179309 16177239 15998439 16227642 3786805 6623471
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4420420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1718230668 15322242 16714409
MESH:D004701 Endocrine Gland Neoplasms decitabine 5.3819294695
MESH:D004714 Endometrial Hyperplasia Genistein 4.8316402032
MESH:D016889 Endometrial Neoplasms Estradiol 7.8719148513 18566989 11473722
MESH:D016889 Endometrial Neoplasms Genistein 7.8711473722
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.189294722 10568697
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 4.513581430
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 4.5120426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1411564622
MESH:D005234 Fatty Liver Carbon Tetrachloride 3.3415959796 12795759 16239168 12631006 16045604 19224547 17595544 61145
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6711858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.286705139
MESH:D005355 Fibrosis Carbon Tetrachloride 9.3318705752
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.3320067830
MESH:D005909 Glioblastoma Genistein 3.3616598420
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.227505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8610696789
MESH:D006258 Head and Neck Neoplasms decitabine 3.6019215824
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4110048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5111000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 9.896705139
MESH:D006505 Hepatitis Carbon Tetrachloride 9.8919900420 19110552
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.1112621046 15340226 16120746
MESH:D006558 Herpes Genitalis Estradiol 5.3015709030
MESH:D019584 Hot Flashes Estradiol 4.0217088409
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.318697196 18606429 15340226 16959395 16354765
MESH:D006932 Hyperbilirubinemia Carbon Tetrachloride 4.7716899240
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.1515034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9618850075 18670907
MESH:D006975 Hypertension, Portal Carbon Tetrachloride 4.3015338365
MESH:D007248 Infertility, Male decitabine 3.3117581917
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9312200463 12878042
MESH:D007333 Insulin Resistance bisphenol A 7.8016393666
MESH:D007333 Insulin Resistance Estradiol 7.8016393666 16627594
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.288074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5116580747
MESH:D007674 Kidney Diseases Estradiol 2.6715618244
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 7.846582329
MESH:D007680 Kidney Neoplasms Estradiol 7.8415610895
MESH:D007938 Leukemia decitabine 6.7818980019 19235587
MESH:D007938 Leukemia Genistein 6.7817468513 18980019
MESH:D007951 Leukemia, Myeloid decitabine 4.1719117987 17236224 18454857
MESH:D015470 Leukemia, Myeloid, Acute decitabine 2.4018460780 18206229 17679729 19010910 18704418 19387464
MESH:D015477 Leukemia, Myelomonocytic, Chronic decitabine 5.7318055864
MESH:D008103 Liver Cirrhosis Carbon Tetrachloride 2.8911903743 11408273 16239168 17174718 16221502 21278145 17157831 17334410 16943688
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3015034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Carbon Tetrachloride 5.1017557913 12389079 12632512 15818738 18481824 14620537 15338365 17761835 15673190 18006644 18187930 15925388 16027843 18472332 17944888 17708605 12898905 14716496 12586293 16015684 15996030 15370692 18156304 14512876 12667390 17823541 15123356 12666154 12546737 18277467 18418968 18251166 15730626 18376398 17525996 17714472 17640975 14748882 18429990 17698563 18210741 12609069 18279442 18472094 12445421 14716833 12741479 16097048 12958196 20821823 17766677 17976157 17721639 14724832 18317297 18054572 18705752 12649538 17631135 17481882 15057751 18263696 16192424 15931870 17565644 18395095 12632514 16136751 18339082 15893842 13678700 15959796 18412020 11481614 18166357 16638106 17805973 16011737 15362042 17900296 18205269 17922224 18395914 15052691 16116963 17869086 15650968 12445418 15876570 18420326 10355542 16033810 16248980
MESH:D008106 Liver Cirrhosis, Experimental Estradiol 5.1014659978 14716833
MESH:D008106 Liver Cirrhosis, Experimental Genistein 5.1017823541
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 5.1012878042
MESH:D008107 Liver Diseases Carbon Tetrachloride 2.1216246199 16964402 15830285 17285989 15720792
MESH:D017093 Liver Failure Carbon Tetrachloride 4.3815123358
MESH:D017114 Liver Failure, Acute Carbon Tetrachloride 3.8514706259 16899240
MESH:D008113 Liver Neoplasms Carbon Tetrachloride 4.5919294768
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.5916984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 15.016587162 598648 3712494 1399818
MESH:D008114 Liver Neoplasms, Experimental Carbon Tetrachloride 15.0112014681 15583823
MESH:D008114 Liver Neoplasms, Experimental Polychlorinated Biphenyls 15.011423854
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 15.0112151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008223 Lymphoma decitabine 3.5419470736
MESH:D008325 Mammary Neoplasms, Experimental Estradiol 6.4411807958 11408345 16891317 17203775
MESH:D008325 Mammary Neoplasms, Experimental Genistein 6.4414578162 12929590
MESH:D020149 Manganese Poisoning Estradiol 4.7519453300
MESH:D008545 Melanoma decitabine 2.2616505122 17785578
MESH:D038901 Mental Retardation, X-Linked marker/mechanism
MESH:D009101 Multiple Myeloma decitabine 3.4618172295
MESH:D009190 Myelodysplastic Syndromes decitabine 3.4719157545 18608210 19010910 16882708
MESH:D009203 Myocardial Infarction Genistein 2.9217141266
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1612213967
MESH:D015428 Myocardial Reperfusion Injury Estradiol 8.9516810080
MESH:D015428 Myocardial Reperfusion Injury Genistein 8.9517141266
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.533581430
MESH:D009369 Neoplasms decitabine 2.7819470736 17925555 19116145
MESH:D009389 Neovascularization, Pathologic Estradiol 3.9717289903
MESH:D009421 Nervous System Malformations bisphenol A 25.1911399458 16427766
MESH:D009421 Nervous System Malformations Estradiol 25.1911399458 16427766
MESH:D009421 Nervous System Malformations Genistein 25.1916427766
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 25.1914600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.026679447
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.586482804 4026338
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.283988306
MESH:D010024 Osteoporosis Genistein 3.3519401787
MESH:D015663 Osteoporosis, Postmenopausal Genistein 4.2716169203
MESH:D010049 Ovarian Diseases bisphenol A 5.2311985600
MESH:D010051 Ovarian Neoplasms decitabine 8.2219331143 19259094
MESH:D010051 Ovarian Neoplasms Estradiol 8.2219401270
MESH:D010051 Ovarian Neoplasms Genistein 8.2219005980
MESH:D010190 Pancreatic Neoplasms decitabine 2.8219294695
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.707296757
MESH:D010300 Parkinson Disease Polychlorinated Biphenyls 3.4416702228
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5112520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.736228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7618163543
MESH:D011297 Prenatal Exposure Delayed Effects bisphenol A 10.3110548101
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.3111896295 11222880 11118676 11399792
MESH:D055728 Primary Myelofibrosis decitabine 4.9417616702
MESH:D019048 Prostatic Intraepithelial Neoplasia bisphenol A 11.1320887781
MESH:D019048 Prostatic Intraepithelial Neoplasia Estradiol 11.1320887781
MESH:D011471 Prostatic Neoplasms bisphenol A 2.1116740699
MESH:D011471 Prostatic Neoplasms Estradiol 2.1116740699
MESH:D011471 Prostatic Neoplasms Genistein 2.1116925846 15256057 15378649
MESH:D011471 Prostatic Neoplasms Polychlorinated Biphenyls 2.1115721890
MESH:D011629 Puberty, Precocious bisphenol A 5.0210548101
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0418990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.503692021
MESH:D012208 Rhabdomyosarcoma decitabine 4.5919155313
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1116192470
MESH:D013274 Stomach Neoplasms decitabine 2.1019037991
MESH:D019966 Substance-Related Disorders bisphenol A 4.2216045194 16684133
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 7.683712494 6582329 1399818 7505956 6587162
MESH:D013964 Thyroid Neoplasms decitabine 7.6817967635
MESH:D013978 Tibial Fractures Estradiol 4.9519048282
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.378074119
MESH:D001749 Urinary Bladder Neoplasms decitabine 5.3717616700 19087683
MESH:D014591 Uterine Diseases bisphenol A 5.2714652134
MESH:D014604 Uveal Neoplasms decitabine 5.1817785578
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5115886252
Pathway ID Pathway Name
REACT:6185 HIV Infection
KEGG:04142 Lysosome
REACT:11123 Membrane Trafficking
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24851
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    PA444929Mental Retardation
    Releated drug ID Related drug Name
    PA450379mercaptopurine
    PA450428methotrexate
    Drug Bank Top

    Simple Query:


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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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