AutismKB 2.0

Annotation Detail for AP4S1


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Basic Information Top
Gene Symbol:AP4S1 ( AP47B,CLA20,CLAPS4,FLJ32366 )
Gene Full Name: adaptor-related protein complex 4, sigma 1 subunit
Band: 14q12
Quick LinksEntrez ID:11154; OMIM: 607243; Uniprot ID:AP4S1_HUMAN; ENSEMBL ID: ENSG00000100478; HGNC ID: 575
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
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 AP4S1 mRNAaffects expression 18648102
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of AP4S1 mRNAdecreases expression 20064835
D005472 Fluorouracil Fluorouracil results in decreased expression of AP4S1 mRNAdecreases expression 16510598
C004648 testosterone enanthate testosterone enanthate affects the expression of AP4S1 mRNAaffects expression 17440010
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 4.6620127859 20464547
MESH:D000230 Adenocarcinoma Fluorouracil 4.6617638652
MESH:D000236 Adenoma 4,4'-diaminodiphenylmethane 7.293712494
MESH:D000236 Adenoma Benzo(a)pyrene 7.296695378
MESH:D000740 Anemia Fluorouracil 4.1116511603 15504547 17963324
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001660 Biliary Tract Diseases 4,4'-diaminodiphenylmethane 5.7411289319 1440618
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 2.1417474063 20146248
MESH:D001943 Breast Neoplasms Fluorouracil 2.1416110121 15136595 18357371 18608205 16595493 16557594 19217205
MESH:D002276 Carcinoid Tumor Fluorouracil 5.3916051944
MESH:D002277 Carcinoma Fluorouracil 3.8917121937
MESH:D006528 Carcinoma, Hepatocellular 4,4'-diaminodiphenylmethane 3.223581430 7296757
MESH:D006528 Carcinoma, Hepatocellular Fluorouracil 3.2217088986 17971768 17045692 16332177 18930000 16799960
MESH:D002292 Carcinoma, Renal Cell 4,4'-diaminodiphenylmethane 7.027296757
MESH:D002292 Carcinoma, Renal Cell Fluorouracil 7.0218695887
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 4.9520419170
MESH:D002294 Carcinoma, Squamous Cell Fluorouracil 4.9516757204 16280240 18986760 17066447
MESH:D002471 Cell Transformation, Neoplastic 4,4'-diaminodiphenylmethane 3.027505956
MESH:D002779 Cholestasis 4,4'-diaminodiphenylmethane 3.4419486331 9022650
MESH:D003110 Colonic Neoplasms Fluorouracil 2.2816340194 18772588 17018589 16510598 17169374 15001691 17287894 17725105 17016597 17172411
MESH:D015179 Colorectal Neoplasms Fluorouracil 2.0017594712 18802399 14970324 18383874 17016601 20501625 15289873 16282729 16391804 17695437 18448328 16524972 18288408 15148649 17255274 18949393 17401013 16331619 17454858 17094418 16303861 18509181
MESH:D007644 Darier Disease Fluorouracil 5.4216733453
MESH:D017449 Dermatitis, Allergic Contact 4,4'-diaminodiphenylmethane 3.3511298694 11906362 8970840 14531868 18759878 2524372 8156756 12868966
MESH:D003877 Dermatitis, Contact 4,4'-diaminodiphenylmethane 3.953621924 2952479
MESH:D056486 Drug-Induced Liver Injury 4,4'-diaminodiphenylmethane 2.049328219 1440618 9022650 16192314 6679447 7440962 9653073 18289764 6482804 18648102 11289319 18692083 8291058
MESH:D004938 Esophageal Neoplasms 4,4'-diaminodiphenylmethane 7.713581430
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 7.7116530937
MESH:D004938 Esophageal Neoplasms Fluorouracil 7.7115173087 16481741 16337965 16785472 17638652
MESH:D005350 Fibroma 4,4'-diaminodiphenylmethane 5.746705139
MESH:D005910 Glioma Fluorouracil 2.9916145905
MESH:D006042 Goiter 4,4'-diaminodiphenylmethane 4.507505956
MESH:D006258 Head and Neck Neoplasms Fluorouracil 3.6415162350 18337622 15102660
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8320471113
MESH:D006505 Hepatitis 4,4'-diaminodiphenylmethane 4.026705139
MESH:D019247 HIV Wasting Syndrome testosterone enanthate 6.4717440010
MESH:D006965 Hyperplasia 4,4'-diaminodiphenylmethane 4.5015034207
MESH:D007565 Jaundice 4,4'-diaminodiphenylmethane 5.749022650 8074119
MESH:D007680 Kidney Neoplasms 4,4'-diaminodiphenylmethane 8.646582329
MESH:D007680 Kidney Neoplasms Fluorouracil 8.6416985049
MESH:D008105 Liver Cirrhosis, Biliary 4,4'-diaminodiphenylmethane 3.429327722 15034207
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 5.0220195826 21137059
MESH:D008113 Liver Neoplasms Fluorouracil 5.0215113037 16603448 18383874 17045692
MESH:D008114 Liver Neoplasms, Experimental 4,4'-diaminodiphenylmethane 2.753712494 598648 6587162 1399818
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.5518520028 20869020 17053015 6695378 20464547 18569708 18816296 20135361 20064080
MESH:D008175 Lung Neoplasms Fluorouracil 2.5515246190
MESH:D008178 Lupus Erythematosus, Cutaneous Fluorouracil 5.4215086387
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 9.5716381670
MESH:D009062 Mouth Neoplasms Fluorouracil 9.5716757204 18986760
MESH:D009362 Neoplasm Metastasis 4,4'-diaminodiphenylmethane 2.593581430
MESH:D009369 Neoplasms Benzo(a)pyrene 5.6311141357
MESH:D009369 Neoplasms Fluorouracil 5.6316928823 18600527 18239605
MESH:D009436 Neural Tube Defects 4,4'-diaminodiphenylmethane 3.156679447
MESH:D020258 Neurotoxicity Syndromes Fluorouracil 3.6916436463
MESH:D009784 Occupational Diseases 4,4'-diaminodiphenylmethane 3.814026338 6482804
MESH:D009902 Optic Neuritis 4,4'-diaminodiphenylmethane 5.743988306
MESH:D010190 Pancreatic Neoplasms Fluorouracil 2.7719003803 16929163 15113037 16500647
MESH:D010212 Papilloma 4,4'-diaminodiphenylmethane 4.047296757
MESH:D010787 Photosensitivity Disorders 4,4'-diaminodiphenylmethane 5.196228378
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 3.1517292933
MESH:D011471 Prostatic Neoplasms Fluorouracil 3.1518626508 19082440
MESH:D012004 Rectal Neoplasms Fluorouracil 4.3818286688 16160472 18722050 15538739
MESH:D012162 Retinal Degeneration 4,4'-diaminodiphenylmethane 3.673692021
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5219755658 10029692
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.492093021 20155912
MESH:D013274 Stomach Neoplasms Fluorouracil 2.4918396642 16951190 18567086 19084572 17498489 19015929 17522103 15786421 16424979 17172411
MESH:D013964 Thyroid Neoplasms 4,4'-diaminodiphenylmethane 3.197505956 6587162 3712494 6582329 1399818
MESH:D014062 Tongue Neoplasms Fluorouracil 4.3816280240
MESH:D001749 Urinary Bladder Neoplasms 4,4'-diaminodiphenylmethane 5.398074119
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 5.3917053015
MESH:D002583 Uterine Cervical Neoplasms Fluorouracil 4.2716803524
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