AutismKB 2.0

Annotation Detail for APPL1


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Basic Information Top
Gene Symbol:APPL1 ( APPL,DIP13alpha )
Gene Full Name: adaptor protein, phosphotyrosine interaction, PH domain and leucine zipper containing 1
Band: 3p14.3
Quick LinksEntrez ID:26060; OMIM: 604299; Uniprot ID:DP13A_HUMAN; ENSEMBL ID: ENSG00000157500; HGNC ID: 24035
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa05210Colorectal cancer
hsa05200Pathways in cancer
Pathway IDPathway Name
Apoptosis
Pathway IDPathway Name
200038Coregulation of Androgen receptor activity
No data
Pathway IDPathway Name
500280Role of DCC in regulating apoptosis
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of APPL1 mRNAaffects expression 17562736
D020122 tert-Butylhydroperoxide tert-Butylhydroperoxide results in decreased expression of APPL1 mRNAdecreases expression 15336504
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of APPL1 mRNAincreases expression 17555576
D014501 Uranium Uranium affects the expression of APPL1 mRNAaffects expression 15672453
C005460 uranyl acetate uranyl acetate affects the expression of APPL1 mRNAaffects expression 15672453
C025643 vinclozolin vinclozolin affects the expression of APPL1 mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.4617505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8714692618
MESH:D000799 Angioedema Acetaminophen 4.3610982225
MESH:D001008 Anxiety Disorders vinclozolin 3.8919015723
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 3.8811256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.8415885639
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.403084413
MESH:D002386 Cataract Acetaminophen 2.7510977129
MESH:D002779 Cholestasis Ethinyl Estradiol 3.1017333356 17681005 11677210 16105132 15861022 16919318 17110522
MESH:D003456 Cryptorchidism vinclozolin 4.7214966744
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 1.6512392966 11461765 11529661 11743745 16393943 17906064 19370779 16781746 10663392 18713872 15619225 14725611 17562736 19739265 16485898 11287661 10774834 18071297 14550746 11739529 19420014 16109766 12153990 19416960 12540782 12705907 19923254 16081117 14986274 10915739 17522070 16227642 12958197 19085960 11421492 12594235 2444490 15968718 11834606 16177239 19164858
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.6219426721
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.5712538720
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.1415345470
MESH:D005756 Gastritis Acetaminophen 4.1916983495
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4016973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.8216417039
MESH:D006930 Hyperalgesia Acetaminophen 2.9516870215
MESH:D007021 Hypospadias Ethinyl Estradiol 4.2316945680 16569931
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.8112013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 7.3317937319
MESH:D007248 Infertility, Male vinclozolin 7.3316467254
MESH:D007674 Kidney Diseases Acetaminophen 2.3615629191 12587719
MESH:D007984 Leydig Cell Tumor vinclozolin 5.1916417039
MESH:D008107 Liver Diseases Acetaminophen 1.6919784758 12969438 11587558 16611625 19460945 12587719 19014921 16610002
MESH:D017114 Liver Failure, Acute Acetaminophen 3.5416871587 17185352
MESH:D008546 Melanoma, Experimental Acetaminophen 3.9819513568
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.1418514411
MESH:D010146 Pain Acetaminophen 2.6516870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.0411578682
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 4.3618042343 19015723 18220299
MESH:D011469 Prostatic Diseases vinclozolin 5.4018220299
MESH:D011472 Prostatitis vinclozolin 5.4018629315
MESH:D011537 Pruritus Ethinyl Estradiol 3.7716919318 15861022
MESH:D012878 Skin Neoplasms tert-Butylhydroperoxide 2.818532709
MESH:D013088 Spermatocele Ethinyl Estradiol 4.4616709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 3.9711994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.4415669648
MESH:D014581 Urticaria Acetaminophen 3.3310982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.6814692618
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 3.8714671159 15869587
Pathway ID Pathway Name
REACT:578 Apoptosis
KEGG:05210 Colorectal cancer
KEGG:05200 Pathways in cancer
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