AutismKB 2.0

Annotation Detail for AP4E1


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Basic Information Top
Gene Symbol:AP4E1 ( DKFZp686L12167 )
Gene Full Name: adaptor-related protein complex 4, epsilon 1 subunit
Band: 15q21.2
Quick LinksEntrez ID:23431; OMIM: 607244; Uniprot ID:AP4E1_HUMAN; ENSEMBL ID: ENSG00000081014; HGNC ID: 573
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
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane affects the expression of AP4E1 mRNAaffects expression 18648102
D004317 Doxorubicin AP4E1 mRNA affects the susceptibility to Doxorubicinaffects response to substance 16044152
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of AP4E1 mRNAincreases expression 17949056
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5914514962 11752688 15322242
MESH:D000230 Adenocarcinoma Doxorubicin 2.6517418594
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.983712494
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000419 Albuminuria Doxorubicin 5.1321441931
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.8911289319 1440618
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.5312125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D019046 Bone Marrow Neoplasms Doxorubicin 5.5714601052
MESH:D001932 Brain Neoplasms Doxorubicin 4.2617150277
MESH:D001943 Breast Neoplasms Doxorubicin 2.0715939500 15634643 15136595 16115903 18628466 19526202 16264153 16595493 16096432 17983394 15567936 11325840 15692762 16935488 17426702 17369602 18695136 18234424 15993339 15668708 16826403 18382427 16322301 15994142
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 2.0720435547
MESH:D002276 Carcinoid Tumor Doxorubicin 5.6816051944
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 3.287296757 3581430
MESH:D006528 Carcinoma, Hepatocellular Doxorubicin 3.2816023760 16234567 17876044 18059187
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 7.127296757
MESH:D002292 Carcinoma, Renal Cell Doxorubicin 7.121485588 16201981
MESH:D002294 Carcinoma, Squamous Cell Doxorubicin 2.736189445
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5816120746 18670907 18850075
MESH:D009202 Cardiomyopathies Doxorubicin 3.8016278810 17351982 17928571 17974986 16455267 18627295 15792986 17924179 15811867 17519947 16952015 15476868 16242529 15505089 17007740 17308081 17329180 17382496 16612575 16731534 16364871 16269455 17131338 16109756 16651473
MESH:D002311 Cardiomyopathy, Dilated Doxorubicin 3.0617334414 16243910
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.057505956
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.4719486331 9022650
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.258697196 12621046 16354765 15668235 15340226
MESH:D015179 Colorectal Neoplasms Doxorubicin 2.1518802399 18259882
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.4414531868 11906362 11298694 2524372 8156756 8970840 12868966 18759878
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 4.023621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 6.836679447 18692083 18648102 18289764 1440618 9653073 16192314 8291058 7440962 9022650 11289319 6482804 9328219
MESH:D056486 Drug-Induced Liver Injury Doxorubicin 6.8317416283
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.8320420201
MESH:D004362 Drug Toxicity Doxorubicin 9.2118602426
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 9.2111462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7718230668 15322242 16714409
MESH:D016889 Endometrial Neoplasms Doxorubicin 3.7217359293
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4710568697 9294722
MESH:D004719 Endomyocardial Fibrosis Doxorubicin 6.0218037988
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.193581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.896705139
MESH:D018222 Fibromatosis, Aggressive Doxorubicin 5.3319069698
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D005909 Glioblastoma Doxorubicin 3.6117150277
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.577505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006258 Head and Neck Neoplasms Doxorubicin 3.8115692506
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5310048152 11294989
MESH:D006331 Heart Diseases Doxorubicin 3.7816244371 17875725 18674790 16244372 16144979 16495754 17888722 18006777 12587719 16879835 14766674 16330681 16707910
MESH:D006333 Heart Failure Doxorubicin 3.5917481944
MESH:D006394 Hemangiosarcoma Doxorubicin 4.3815692506
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.106705139
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 12621046 16120746
MESH:D006689 Hodgkin Disease Doxorubicin 3.8218501091 17606976 15147373
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9115340226 16354765 8697196 16959395 18606429
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5915034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.898074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007674 Kidney Diseases Doxorubicin 3.2815699352 16775033 15369732
MESH:D007676 Kidney Failure, Chronic Doxorubicin 4.6416707910
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.356582329
MESH:D004915 Leukemia, Erythroblastic, Acute Doxorubicin 6.0216085563
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.449327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental Doxorubicin 2.5316439617 16595196
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.5312878042
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 11.346587162 598648 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Doxorubicin 11.3416842330 17085340
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 11.3412151625
MESH:D008175 Lung Neoplasms Doxorubicin 2.496189445 17418594
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.4919555203 11884234
MESH:D008223 Lymphoma Doxorubicin 3.7716098063
MESH:D008228 Lymphoma, Non-Hodgkin Doxorubicin 4.1817654614
MESH:D016399 Lymphoma, T-Cell Doxorubicin 5.2215621674
MESH:D008325 Mammary Neoplasms, Experimental Doxorubicin 3.2915458769
MESH:D008545 Melanoma Doxorubicin 2.3316827129
MESH:D008654 Mesothelioma Doxorubicin 3.2017638057
MESH:D028361 Mitochondrial Diseases Doxorubicin 4.9815792986
MESH:D052016 Mucositis Doxorubicin 5.5317415656
MESH:D009203 Myocardial Infarction Doxorubicin 3.0919429709 15857846
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 6.323581430
MESH:D009362 Neoplasm Metastasis Doxorubicin 6.3218259882
MESH:D009401 Nephrosis Doxorubicin 5.4216899518 16636307
MESH:D009404 Nephrotic Syndrome Doxorubicin 4.4215640375 16889571
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.186679447
MESH:D009447 Neuroblastoma Doxorubicin 3.4515555623
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.874026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.893988306
MESH:D012516 Osteosarcoma Doxorubicin 4.4815930896
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.137296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.346228378
MESH:D003557 Phyllodes Tumor Doxorubicin 6.0217983394
MESH:D010997 Pleural Neoplasms Doxorubicin 6.0217638057
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311118676 11222880 11896295 11399792
MESH:D011471 Prostatic Neoplasms Doxorubicin 3.4916888761 16729912 15749863 18437689 15897917 16868541
MESH:D051437 Renal Insufficiency Doxorubicin 4.8717922066
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.703692021
MESH:D012509 Sarcoma Doxorubicin 4.4415675481 15625365 17710206 17203757 16767912 18313854
MESH:D012512 Sarcoma, Ewing's Doxorubicin 4.8316326096 14601052
MESH:D012514 Sarcoma, Kaposi Doxorubicin 5.5317846226
MESH:D012878 Skin Neoplasms Doxorubicin 6.2715692506
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.2716192470
MESH:D012983 Soft Tissue Neoplasms Doxorubicin 5.2216767912 15625365 17203757
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 8.423712494 7505956 1399818 6587162 6582329
MESH:D013964 Thyroid Neoplasms Doxorubicin 8.4217909728 16010429
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.658074119
MESH:D001749 Urinary Bladder Neoplasms Doxorubicin 5.6517653716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D018487 Ventricular Dysfunction, Left Doxorubicin 4.8717334414 16364871 17638931 17678736
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
Pathway ID Pathway Name
KEGG:04142 Lysosome
REACT:11123 Membrane Trafficking
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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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