AutismKB 2.0

Annotation Detail for AP3B1


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Basic Information Top
Gene Symbol:AP3B1 ( ADTB3,ADTB3A,HPS,HPS2,PE )
Gene Full Name: adaptor-related protein complex 3, beta 1 subunit
Band: 5q14.1
Quick LinksEntrez ID:8546; OMIM: 603401; Uniprot ID:AP3B1_HUMAN; ENSEMBL ID: ENSG00000132842; HGNC ID: 566
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa04142Lysosome
Pathway IDPathway Name
Membrane Trafficking
No data
No data
No data
Related Diseases/Disorders Top
Desease IDDesease Name
H00166Hermansky-Pudlak syndrome
Inherited disorders of amino acid metabolism
Genetic disorders
No data
No data
No data
Desease Name
Hermansky-Pudlak syndrome 2
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C016403 2,4-dinitrotoluene 2,4-dinitrotoluene affects the expression of AP3B1 mRNAaffects expression 21346803
D000082 Acetaminophen Acetaminophen affects the expression of AP3B1 mRNAaffects expression 17562736
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of AP3B1 mRNAdecreases expression 20064835
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of AP3B1 mRNAdecreases expression 15336504
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of AP3B1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AP3B1 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AP3B1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3115322242 14514962 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.3920464547 20127859
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 4.3914692618
MESH:D000236 Adenoma Benzo(a)pyrene 2.826695378
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.8416835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2511748828
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.4919183758
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.3115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9515746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8717474063 20146248
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0516835633
MESH:D006528 Carcinoma, Hepatocellular 2,4-dinitrotoluene 2.9316705839
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 2.933084413
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1220419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5218850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4516835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1017110522 15861022 17333356 16105132 11677210 16919318 17681005
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2115668235 8697196 15340226 16354765 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 15322242 20055451
MESH:D003490 Cyanosis 2,4-dinitrotoluene 4.4318551238
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 2,4-dinitrotoluene 6.5721346803 18551238
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5719923254 19416960 16081117 11739529 11421492 14725611 15619225 11529661 19085960 10915739 12958197 19739265 19420014 12705907 17522070 18071297 16109766 16781746 17906064 11461765 16177239 11287661 16227642 11743745 19164858 17562736 2444490 19370779 15968718 10774834 14986274 14550746 12594235 12540782 11834606 18713872 12153990 16393943 12392966 10663392 16485898
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5720420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.4218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.339294722 10568697
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0716530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8711858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.3620067830
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.1210696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 6.9320471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 6.9311294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3115340226 16120746 12621046
OMIM:608233 HERMANSKY-PUDLAK SYNDROME 2 marker/mechanism
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.5718606429 16959395 8697196 16354765 15340226
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0018850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.6817937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9912878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6616580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3615629191 12587719
MESH:D007680 Kidney Neoplasms 2,4-dinitrotoluene 3.2416705839
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.6912587719 16611625 16610002 12969438 11587558 19784758 19460945 19014921
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5417185352 16871587
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 4.6620195826 21137059
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2812151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.256695378 18569708 20064080 18816296 20135361 20464547 20869020 17053015 18520028
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2511884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.4316381670
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.2712213967
MESH:D009336 Necrosis 2,4-dinitrotoluene 4.3218551238
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3011141357
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5914600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D009784 Occupational Diseases 2,4-dinitrotoluene 3.7312819281 16049721
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.7712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.9418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.6511399792 11222880 11896295 11118676
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9217292933
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2218990726
MESH:D012640 Seizures 2,4-dinitrotoluene 2.7318551238
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 10.1519755658 10029692
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 10.158532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 10.1516192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.4212697716
MESH:D001749 Urinary Bladder Neoplasms 2,4-dinitrotoluene 5.3116049721
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.3117053015
MESH:D014571 Urologic Neoplasms 2,4-dinitrotoluene 4.7810091137
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.1212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8715869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.7715886252
Pathway ID Pathway Name
KEGG:04142 Lysosome
REACT:11123 Membrane Trafficking
Pharmacogenomics Knowledge Base Top
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  (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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