AutismKB 2.0

Annotation Detail for AP4M1


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Basic Information Top
Gene Symbol:AP4M1 ( CPSQ3,MU-4,MU-ARP2 )
Gene Full Name: adaptor-related protein complex 4, mu 1 subunit
Band: 7q22.1
Quick LinksEntrez ID:9179; OMIM: 602296; Uniprot ID:AP4M1_HUMAN; ENSEMBL ID: ENSG00000221838; HGNC ID: 574
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
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Desease Name
Cerebral palsy, spastic quadriplegic, 3
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
C009505 4,4'-diaminodiphenylmethane 4,4'-diaminodiphenylmethane results in increased expression of AP4M1 mRNAincreases expression 18648102
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of AP4M1 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AP4M1 mRNAaffects cotreatment|increases expression 17942748
C006253 pirinixic acid pirinixic acid results in increased expression of AP4M1 mRNAincreases expression 18301758
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of AP4M1 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4715322242 11752688 14514962
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.6617505938
MESH:D055371 Acute Lung Injury pirinixic acid 3.5818653653
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8814692618
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 2.963712494
MESH:D018248 Adenoma, Liver Cell pirinixic acid 12.1016434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.1016835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.0211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8915885639
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.7411289319 1440618
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.2219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.2212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 1.783581430 7296757
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 2.837296757
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618850075 16120746 18670907
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.027505956
OMIM:612936 CEREBRAL PALSY, SPASTIC QUADRIPLEGIC, 3 marker/mechanism
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 15.1219486331 9022650
MESH:D002779 Cholestasis Ethinyl Estradiol 15.1217333356 17681005 15861022 11677210 17110522 16919318 16105132
MESH:D002779 Cholestasis pirinixic acid 15.1219176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2416354765 8697196 15668235 15340226 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4317141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 15322242 10048152
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.3512868966 18759878 8156756 11298694 11906362 8970840 14531868 2524372
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5718249437
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.953621924 2952479
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 4.0018692083 16192314 18289764 6679447 9653073 9328219 11289319 7440962 6482804 1440618 9022650 8291058 18648102
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0020420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema pirinixic acid 7.9712083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 7.9712711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 15322242 16714409
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.6912538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 2.183581430
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 8.9915345470
MESH:D005234 Fatty Liver pirinixic acid 8.9919236843 20131406
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.7620558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D006529 Hepatomegaly pirinixic acid 10.1918467677 16221962 19176532 19772884
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.1916120746 15340226 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7716354765 18606429 16959395 15340226 8697196
MESH:D006943 Hyperglycemia pirinixic acid 3.5820558911
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218850075 18670907
MESH:D007021 Hypospadias Ethinyl Estradiol 4.3716569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9212013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7317937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.8716306350
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.748074119 9022650
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 3.316582329
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.429327722 15034207
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2315474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2312878042
MESH:D008113 Liver Neoplasms pirinixic acid 4.6515890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.6516984957
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 6.50598648 6587162 1399818 3712494
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5012151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D009135 Muscular Diseases pirinixic acid 4.0716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2719151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2516411023
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009369 Neoplasms pirinixic acid 2.1117405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.156679447
MESH:D009765 Obesity pirinixic acid 1.8820558911
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.814026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.1511578682
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211896295 11399792 11118676 11222880
MESH:D011537 Pruritus Ethinyl Estradiol 3.9416919318 15861022
MESH:D015427 Reperfusion Injury pirinixic acid 2.5519058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.6616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.0811994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5215669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.197505956 3712494 1399818 6582329 6587162
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 2.408074119
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8014692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.9715869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
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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