AutismKB 2.0

Annotation Detail for AP3D1


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Basic Information Top
Gene Symbol:AP3D1 ( ADTD,hBLVR )
Gene Full Name: adaptor-related protein complex 3, delta 1 subunit
Band: 19p13.3
Quick LinksEntrez ID:8943; OMIM: 607246; Uniprot ID:AP3D1_HUMAN; ENSEMBL ID: ENSG00000065000; HGNC ID: 568
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1809HIV infection
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in decreased expression of AP3D1 mRNAdecreases expression 18648102
C035207 4-amino-2,6-dinitrotoluene 4-amino-2,6-dinitrotoluene affects the expression of AP3D1 mRNAaffects expression 21346803
D001151 Arsenic Arsenic affects the expression of AP3D1 mRNAaffects expression 18414638
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of AP3D1 mRNAdecreases expression 15336504
D016572 Cyclosporine Cyclosporine results in increased expression of AP3D1 mRNAincreases expression 20106945
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of AP3D1 mRNAdecreases expression 15644576
C025643 vinclozolin vinclozolin results in decreased expression of AP3D1 mRNAdecreases expression 18042343
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced 4-amino-2,6-dinitrotoluene 9.837525203
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 9.8314514962 11752688 15322242
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.903712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.7716835633
MESH:D018246 Adrenocortical Adenoma Arsenic 5.6617306315
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2111748828
MESH:D001008 Anxiety Disorders vinclozolin 3.8619015723
MESH:D020261 Arsenic Poisoning Arsenic 2.9316835338 18414634 12569548 16251483
MESH:D050197 Atherosclerosis Arsenic 3.4019371607 12928151
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.4611289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.3312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.2315340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9315746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6820435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0216835633
MESH:D002280 Carcinoma, Basal Cell Arsenic 3.7315504454 17687452
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 3.257296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Arsenic 3.2517306315 16507464
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.787296757
MESH:D002294 Carcinoma, Squamous Cell Arsenic 2.7515504454 18922899 17687452
MESH:D002295 Carcinoma, Transitional Cell Arsenic 4.3418640142
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5016120746 18850075 18670907
MESH:D002318 Cardiovascular Diseases Arsenic 3.6319152805 17938729 15738583
MESH:D002340 Carotid Artery Diseases Arsenic 4.5618022660 16973168
MESH:D002386 Cataract 4-amino-2,6-dinitrotoluene 3.7814694615
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 7.187505956
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 7.1812371664
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4116835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 8.5619486331 9022650
MESH:D002779 Cholestasis Cyclosporine 8.5619486331
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2015340226 16354765 12621046 8697196 15668235
MESH:D000013 Congenital Abnormalities 4-amino-2,6-dinitrotoluene 10.0315095906
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 10.0314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2615322242 10048152 20055451
MESH:D003456 Cryptorchidism vinclozolin 4.6714966744
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.1512868966 18759878 11906362 11298694 8156756 2524372 14531868 8970840
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.792952479 3621924
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7217107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.666482804 18692083 8291058 9328219 11289319 6679447 7440962 9653073 9022650 18289764 16192314 18648102 1440618
MESH:D056486 Drug-Induced Liver Injury 4-amino-2,6-dinitrotoluene 6.6621346803
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.6620420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9611462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.6511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.3516714409 15322242 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2910568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.163581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2111564622
MESH:D005234 Fatty Liver Cyclosporine 3.1419224547
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.8111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.466705139
MESH:D005355 Fibrosis Cyclosporine 9.7012168785 12639820
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 9.7020067830
MESH:D005534 Foot Diseases Arsenic 6.006392382
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.3316973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.7416417039
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.628708960
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.347505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.0410696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4610048152 11294989
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 4.8215720958
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.6211000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 3.846705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.2512621046 15340226 16120746
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.498697196 15340226 16959395 18606429 16354765
MESH:D017488 Hyperkeratosis, Epidermolytic Arsenic 4.7217050553
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.3015034207
MESH:D006973 Hypertension Arsenic 9.109931084 11953799 16076760
MESH:D006973 Hypertension Cyclosporine 9.1010903974
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 9.1018850075 18670907
MESH:D006987 Hypesthesia Arsenic 6.0016093927
MESH:D007248 Infertility, Male vinclozolin 3.2116467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 1.9812200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.468074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.6216580747
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 4.8815604871
MESH:D007642 Keratosis Arsenic 5.3912749816 16930632
MESH:D007674 Kidney Diseases Cyclosporine 2.4818776723 10903974 8314463
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.066582329
MESH:D007680 Kidney Neoplasms Cyclosporine 8.0612371664
MESH:D015473 Leukemia, Promyelocytic, Acute Arsenic 3.7217339181
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1316417039
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.3515034207 9327722
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2412878042
MESH:D008107 Liver Diseases Arsenic 2.5911134558
MESH:D008113 Liver Neoplasms Arsenic 4.8616368122
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8616984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.276587162 1399818 3712494 598648
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.2712151625
MESH:D008175 Lung Neoplasms Arsenic 2.4819168569 17976673 17306315
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4811884234 19555203
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.2316801185
MESH:D017202 Myocardial Ischemia Arsenic 9.7515371236
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 9.7512213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.563581430
MESH:D009402 Nephrosis, Lipoid Cyclosporine 4.8817954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.5318481113 19348381
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.5414600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 7.946679447
MESH:D009436 Neural Tube Defects Arsenic 7.9416620997
MESH:D020078 Neurogenic Inflammation Arsenic 4.6817056641
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 10.026482804 4026338
MESH:D009784 Occupational Diseases 4-amino-2,6-dinitrotoluene 10.0214694615
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.463988306
MESH:D010051 Ovarian Neoplasms Arsenic 2.8117306315
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 3.847296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.6912520081
MESH:D010523 Peripheral Nervous System Diseases Arsenic 4.5116093927
MESH:D016491 Peripheral Vascular Diseases Arsenic 5.3916905509 15371236 6392382
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 4.916228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8918163543
MESH:D011230 Precancerous Conditions Cyclosporine 3.4712371664
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 10.8411118676 11222880 11896295 11399792
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 10.8418042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.3318220299
MESH:D011471 Prostatic Neoplasms Arsenic 3.5616140617
MESH:D011472 Prostatitis vinclozolin 5.3318629315
MESH:D011507 Proteinuria Arsenic 4.3121343184
MESH:D011565 Psoriasis Cyclosporine 2.3016882103
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.1718990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.583692021
MESH:D012871 Skin Diseases Arsenic 2.8016759981 17938729 16702368 17453740 19834688 17548696 16353154 18709164 6392382 15952646 17050553
MESH:D012878 Skin Neoplasms Arsenic 10.1517029826 16251483 17976673 17050553 15504454 19538983
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 10.158532709
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 10.1516192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.3512697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.096582329 6587162 1399818 3712494 7505956
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.518074119
MESH:D001749 Urinary Bladder Neoplasms Arsenic 5.5118640142 17306315 19429237 19322015 17976673 11144890 15987713
MESH:D014605 Uveitis Cyclosporine 4.431336536
MESH:D014652 Vascular Diseases Arsenic 5.1317056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.0412125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.6915886252
MESH:D014985 Xerophthalmia Cyclosporine 4.8817120751
Pathway ID Pathway Name
KEGG:04142 Lysosome
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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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