AutismKB 2.0

Annotation Detail for AP1B1


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Basic Information Top
Gene Symbol:AP1B1 ( ADTB1,AP105A,BAM22,CLAPB2 )
Gene Full Name: adaptor-related protein complex 1, beta 1 subunit
Band: 22q12.2
Quick LinksEntrez ID:162; OMIM: 600157; Uniprot ID:AP1B1_HUMAN; ENSEMBL ID: ENSG00000100280; HGNC ID: 554
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
Pathway IDPathway Name
Membrane Trafficking
HIV Infection
Pathway IDPathway Name
200194FOXA1 transcription factor network
No data
Pathway IDPathway Name
500013Clathrin derived vesicle budding
500014Golgi Associated Vesicle Biogenesis
500015Lysosome Vesicle Biogenesis
500758Nef mediated downregulation of MHC class I complex cell surface expression
Related Diseases/Disorders Top
No data
No data
Desease Name
CARDIOVASCULAR
Carotid atherosclerosis in HIV infection
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C023514 2,6-dinitrotoluene 2,6-dinitrotoluene affects the expression of AP1B1 mRNAaffects expression 21346803
C105260 4-tert-octylphenol 4-tert-octylphenol results in increased expression of AP1B1 mRNAincreases expression 17011747
D000643 Ammonium Chloride Ammonium Chloride affects the expression of AP1B1 mRNAaffects expression 16483693
D004390 Chlorpyrifos Chlorpyrifos results in decreased expression of AP1B1 mRNAdecreases expression 17452286
D016572 Cyclosporine Cyclosporine results in decreased expression of AP1B1 mRNAdecreases expression 20106945
D004054 Diethylstilbestrol Diethylstilbestrol results in increased expression of AP1B1 mRNAincreases expression 17011747
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of AP1B1 mRNAaffects cotreatment|decreases expression 17942748
D012643 Selenium Selenium results in increased expression of AP1B1 mRNAincreases expression 19244175
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in decreased expression of AP1B1 mRNAaffects cotreatment|decreases expression 17942748
C402769 tipifarnib tipifarnib results in increased expression of AP1B1 mRNAincreases expression 16403772
D014415 Tunicamycin Tunicamycin results in decreased expression of AP1B1 mRNAdecreases expression 17127020
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.0414514962 11752688 15322242
MESH:D000138 Acidosis Ammonium Chloride 3.7518287403
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.1617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8414692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.5716835633
MESH:D000382 Agricultural Workers' Diseases Chlorpyrifos 4.5416611668 11874814 17119214
MESH:D000686 Amyloidosis Diethylstilbestrol 4.6415469931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.0811748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.6411256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.7415885639
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.1812125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.0115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8515746008
MESH:D001943 Breast Neoplasms Diethylstilbestrol 2.1017129689 15324884
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.1020435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9116835633
MESH:D006528 Carcinoma, Hepatocellular 2,6-dinitrotoluene 3.1916705839
MESH:D006528 Carcinoma, Hepatocellular Diethylstilbestrol 3.1916924424 15948411
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.4418670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic 2,6-dinitrotoluene 6.896135515
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 6.8912371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.2916835633
MESH:D002779 Cholestasis Cyclosporine 8.1219486331
MESH:D002779 Cholestasis Ethinyl Estradiol 8.1215861022 11677210 17110522 17333356 17681005 16105132 16919318
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1512621046 16354765 15668235 15340226 8697196
MESH:D003092 Colitis Selenium 3.9517936198
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.1817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003456 Cryptorchidism Diethylstilbestrol 4.7216002989 12952375
MESH:D003490 Cyanosis 2,6-dinitrotoluene 4.1918551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.6917107852
MESH:D056486 Drug-Induced Liver Injury 2,6-dinitrotoluene 6.4118551238 21346803
MESH:D056486 Drug-Induced Liver Injury Selenium 6.4115131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.4120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.8611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.5112711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.1216714409 18230668 15322242
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.3512538720
MESH:D004714 Endometrial Hyperplasia Diethylstilbestrol 4.8916402032
MESH:D016889 Endometrial Neoplasms Diethylstilbestrol 3.5515700306 16804899
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.159294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1211564622
MESH:D005234 Fatty Liver Cyclosporine 8.0519224547
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.0515345470
MESH:D052776 Female Urogenital Diseases Diethylstilbestrol 3.7316513791 16611131 16002989 15751030 16534752
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.6311858732
MESH:D005355 Fibrosis Cyclosporine 9.0712639820 12168785
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.0720067830
MESH:D005833 Genital Neoplasms, Female Diethylstilbestrol 5.1416452187
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.418708960
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.8110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4011294989 10048152
MESH:D006333 Heart Failure Selenium 3.1517162251
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.6215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.4811000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.0712621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.2615340226 18606429 8697196 16959395 16354765
MESH:D006965 Hyperplasia Diethylstilbestrol 4.6114722030 12960047
MESH:D006973 Hypertension Cyclosporine 5.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 5.1018670907 18850075
MESH:D007021 Hypospadias Diethylstilbestrol 11.8416002989
MESH:D007021 Hypospadias Ethinyl Estradiol 11.8416569931 16945680
MESH:D007246 Infertility Diethylstilbestrol 4.5215036965
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.6112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.5717937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9212878042 12200463
MESH:D007251 Influenza, Human Selenium 4.4116624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.4816580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.6615604871
MESH:D007674 Kidney Diseases Cyclosporine 2.418314463 10903974 18776723
MESH:D007676 Kidney Failure, Chronic Selenium 4.0216518626
MESH:D007680 Kidney Neoplasms 2,6-dinitrotoluene 13.1316705839
MESH:D007680 Kidney Neoplasms Cyclosporine 13.1312371664
MESH:D007680 Kidney Neoplasms Diethylstilbestrol 13.1316762066 14681315 15003126
MESH:D007859 Learning Disorders Diethylstilbestrol 4.2417184923
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Chlorpyrifos 3.1015991261
MESH:D008113 Liver Neoplasms 2,6-dinitrotoluene 7.727678174
MESH:D008113 Liver Neoplasms Diethylstilbestrol 7.7216712894 15890375
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.7216984957
MESH:D008114 Liver Neoplasms, Experimental 2,6-dinitrotoluene 6.012876784 2876786 6135515
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.0112151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.9111884234 19555203
MESH:D008175 Lung Neoplasms tipifarnib 2.9116885199
MESH:D008181 Lupus Nephritis Diethylstilbestrol 5.3415166399
MESH:D008223 Lymphoma Diethylstilbestrol 3.5715700306
MESH:D052801 Male Urogenital Diseases Diethylstilbestrol 5.7316002989
MESH:D008325 Mammary Neoplasms, Experimental Selenium 6.9615318939
MESH:D008325 Mammary Neoplasms, Experimental tipifarnib 6.9616648579
MESH:D008654 Mesothelioma Selenium 2.8415107826
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.0116801185
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1312213967
MESH:D009336 Necrosis 2,6-dinitrotoluene 4.057678174 18551238
MESH:D009369 Neoplasms Diethylstilbestrol 2.8215313581
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.6617954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.4118481113 19348381
MESH:D009421 Nervous System Malformations Diethylstilbestrol 10.1911399458
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 10.1914600291
MESH:D020258 Neurotoxicity Syndromes Chlorpyrifos 4.2615081274
MESH:D009784 Occupational Diseases 2,6-dinitrotoluene 3.5616049721
MESH:D016584 Panic Disorder Ethinyl Estradiol 3.8411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.4712520081
MESH:D010900 Pituitary Diseases Diethylstilbestrol 5.3914722030
MESH:D010911 Pituitary Neoplasms Diethylstilbestrol 4.8515687265 16977796
MESH:D010954 Plasmacytoma Selenium 5.1115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.7218163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.3512371664
MESH:D011297 Prenatal Exposure Delayed Effects Diethylstilbestrol 10.2217184923
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.2211222880 11896295 11399792 11118676
MESH:D011471 Prostatic Neoplasms Diethylstilbestrol 3.5415846301 15046698 17136230
MESH:D011537 Pruritus Ethinyl Estradiol 3.5115861022 16919318
MESH:D011565 Psoriasis Cyclosporine 2.2716882103
MESH:D012135 Respiratory Sounds Chlorpyrifos 4.8116611668 11874814 17119214
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0018990726
MESH:D012140 Respiratory Tract Diseases Chlorpyrifos 5.1116611668 17119214
MESH:D012640 Seizures 2,6-dinitrotoluene 2.6218551238
MESH:D012729 Sex Chromosome Aberrations Chlorpyrifos 6.316418539
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.1016192470
MESH:D013088 Spermatocele Diethylstilbestrol 12.4516002989 16709447
MESH:D013088 Spermatocele Ethinyl Estradiol 12.4516709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.7711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.2815669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.1212697716
MESH:D001749 Urinary Bladder Neoplasms 2,6-dinitrotoluene 5.3516049721
MESH:D001749 Urinary Bladder Neoplasms Diethylstilbestrol 5.3516712894 16452187 17306315
MESH:D014571 Urologic Neoplasms 2,6-dinitrotoluene 4.5110091137
MESH:D002583 Uterine Cervical Neoplasms Diethylstilbestrol 4.1616175088
MESH:D014591 Uterine Diseases Diethylstilbestrol 5.3914652134
MESH:D014594 Uterine Neoplasms Diethylstilbestrol 10.0215809267 16690809
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 10.0214692618
MESH:D014605 Uveitis Cyclosporine 4.201336536
MESH:D014625 Vaginal Neoplasms Diethylstilbestrol 4.6116513791 16002989
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.8112125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.6814671159 15869587
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.4715886252
MESH:D014985 Xerophthalmia Cyclosporine 4.6617120751
Pathway ID Pathway Name
REACT:6185 HIV Infection
KEGG:04142 Lysosome
REACT:11123 Membrane Trafficking
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA24844
    • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    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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