AutismKB 2.0

Annotation Detail for PNPLA4


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Basic Information Top
Gene Symbol:PNPLA4 ( DXS1283E,GS2 )
Gene Full Name: patatin-like phospholipase domain containing 4
Band: Xp22.31
Quick LinksEntrez ID:8228; OMIM: 300102; Uniprot ID:PLPL4_HUMAN; ENSEMBL ID: ENSG00000006757; HGNC ID: 24887
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Pathway IDPathway Name
LIPAS-PWYtriacylglycerol degradation
Pathway IDPathway Name
hsa00830Retinol metabolism
No data
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016572 Cyclosporine Cyclosporine results in decreased expression of PNPLA4 mRNAdecreases expression 20106945
C014794 retinol palmitate M6PRBP1 protein inhibits the reaction [PNPLA4 protein results in increased hydrolysis of retinol palmitate]decreases reaction|increases hydrolysis 16741517
C014794 retinol palmitate PNPLA4 protein results in increased hydrolysis of retinol palmitateincreases hydrolysis 16741517
D014810 Vitamin E Vitamin E results in decreased expression of PNPLA4 mRNAdecreases expression 19244175
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D002252 Carbon Tetrachloride Poisoning Vitamin E 4.5816050911
MESH:D002294 Carcinoma, Squamous Cell retinol palmitate 4.4615984520
MESH:D002471 Cell Transformation, Neoplastic Cyclosporine 2.8212371664
MESH:D002779 Cholestasis Cyclosporine 3.2419486331
MESH:D019465 Craniofacial Abnormalities Vitamin E 1.9319769572
MESH:C538011 Eales disease Vitamin E 5.579068938
MESH:D005234 Fatty Liver Cyclosporine 3.3419224547
MESH:D005355 Fibrosis Cyclosporine 3.7912639820 12168785
MESH:D005885 Gingival Hyperplasia Cyclosporine 4.968708960
MESH:D006258 Head and Neck Neoplasms retinol palmitate 5.5415984520
MESH:D006330 Heart Defects, Congenital Vitamin E 3.1816080930
MESH:D006457 Hemoglobinuria, Paroxysmal Cyclosporine 5.1615720958
MESH:D006548 Hernia, Diaphragmatic Vitamin E 2.8216490937 16863852
MESH:D019584 Hot Flashes Vitamin E 4.8414716179
MESH:D006973 Hypertension Cyclosporine 2.2310903974
MESH:D007251 Influenza, Human Vitamin E 5.0816624496
MESH:D007638 Keratoconjunctivitis Sicca Cyclosporine 5.3115604871
MESH:D007674 Kidney Diseases Cyclosporine 6.788314463 10903974 18776723
MESH:D007674 Kidney Diseases Vitamin E 6.7812488133
MESH:D007680 Kidney Neoplasms Cyclosporine 3.1212371664
MESH:D008106 Liver Cirrhosis, Experimental Vitamin E 1.9116169303
MESH:D008171 Lung Diseases Vitamin E 3.4516863852
MESH:D008175 Lung Neoplasms Vitamin E 1.9011062179
MESH:D008664 Metal Metabolism, Inborn Errors Cyclosporine 5.6516801185
MESH:D009402 Nephrosis, Lipoid Cyclosporine 5.3117954296
MESH:D009404 Nephrotic Syndrome Cyclosporine 3.7019348381 18481113
MESH:D010033 Otitis Media retinol palmitate 7.6117303254
MESH:D011230 Precancerous Conditions Cyclosporine 3.6412371664
MESH:D011471 Prostatic Neoplasms Vitamin E 3.2415084515
MESH:D011565 Psoriasis Cyclosporine 2.3416882103
MESH:D012871 Skin Diseases Vitamin E 2.5218709164
MESH:D020521 Stroke Vitamin E 3.8816517955
MESH:D014605 Uveitis Cyclosporine 4.851336536
MESH:D014985 Xerophthalmia Cyclosporine 5.3117120751
Pathway ID Pathway Name
KEGG:00830 Retinol metabolism
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA134910531
    • No data
    Releated disease ID Related disease Name
    PA444929Mental Retardation
    No data
    Drug Bank Top

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    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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