AutismKB 2.0

Annotation Detail for NUP50


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Basic Information Top
Gene Symbol:NUP50 ( MGC39961,NPAP60,NPAP60L )
Gene Full Name: nucleoporin 50kDa
Band: 22q13.31
Quick LinksEntrez ID:10762; OMIM: 604646; Uniprot ID:NUP50_HUMAN; ENSEMBL ID: ENSG00000093000; HGNC ID: 8065
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Metabolism of carbohydrates
Transmembrane transport of small molecules
HIV Infection
No data
No data
No data
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of NUP50 mRNAaffects expression 17562736
D004997 Ethinyl Estradiol Ethinyl Estradiol results in increased expression of NUP50 mRNAincreases expression 17942748
D004997 Ethinyl Estradiol [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NUP50 mRNAaffects cotreatment|increases expression 17942748
D013749 Tetrachlorodibenzodioxin [Tetrachlorodibenzodioxin co-treated with Ethinyl Estradiol] results in increased expression of NUP50 mRNAaffects cotreatment|increases expression 17942748
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5914514962 15322242 11752688
MESH:D000152 Acne Vulgaris Ethinyl Estradiol 4.8117505938
MESH:D000230 Adenocarcinoma Ethinyl Estradiol 1.8914692618
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.1216835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D000799 Angioedema Acetaminophen 4.7110982225
MESH:D001161 Arteriosclerosis Ethinyl Estradiol 4.1211256880
MESH:D001169 Arthritis, Experimental Ethinyl Estradiol 2.9115885639
MESH:D001321 Autistic Disorder Acetaminophen 1.3918445737
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:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 1.413084413
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818670907 18850075 16120746
MESH:D002386 Cataract Acetaminophen 2.8110977129
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis Ethinyl Estradiol 3.2017333356 16919318 17110522 17681005 15861022 16105132 11677210
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2515668235 15340226 16354765 8697196 12621046
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4814669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 3.8919923254 17522070 11834606 19416960 16393943 11739529 10774834 12705907 18713872 11287661 12540782 16781746 19164858 19085960 15619225 11421492 16227642 10915739 14550746 11529661 2444490 15968718 10663392 16177239 12958197 18071297 17562736 19739265 19420014 14725611 14986274 16081117 19370779 17906064 16485898 11461765 12594235 11743745 12392966 16109766 12153990
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 3.8920420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.9619426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8511000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7716714409 15322242 18230668
MESH:D004681 Encephalomyelitis, Autoimmune, Experimental Ethinyl Estradiol 3.7712538720
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.479294722 10568697
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver Ethinyl Estradiol 3.2915345470
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D005756 Gastritis Acetaminophen 4.5416983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5310048152 11294989
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.5415340226 16120746 12621046
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9115340226 16959395 18606429 16354765 8697196
MESH:D006930 Hyperalgesia Acetaminophen 3.0616870215
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318670907 18850075
MESH:D007021 Hypospadias Ethinyl Estradiol 4.4616569931 16945680
MESH:D007247 Infertility, Female Ethinyl Estradiol 3.9912013081
MESH:D007248 Infertility, Male Ethinyl Estradiol 2.7617937319
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412200463 12878042
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D007674 Kidney Diseases Acetaminophen 2.4215629191 12587719
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008107 Liver Diseases Acetaminophen 1.7119784758 16611625 19014921 16610002 19460945 11587558 12587719 12969438
MESH:D017114 Liver Failure, Acute Acetaminophen 3.6817185352 16871587
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 1.8416984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 1.2419555203 11884234
MESH:D008546 Melanoma, Experimental Acetaminophen 4.2219513568
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.2618514411
MESH:D010146 Pain Acetaminophen 2.7716870215
MESH:D016584 Panic Disorder Ethinyl Estradiol 4.2211578682
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11118676 11222880 11399792
MESH:D011537 Pruritus Ethinyl Estradiol 4.0516919318 15861022
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2116192470
MESH:D013088 Spermatocele Ethinyl Estradiol 4.8116709447
MESH:D019851 Thrombophilia Ethinyl Estradiol 4.1511994571
MESH:D013927 Thrombosis Ethinyl Estradiol 3.5715669648
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D014581 Urticaria Acetaminophen 3.5010982225
MESH:D014594 Uterine Neoplasms Ethinyl Estradiol 3.8814692618
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D020246 Venous Thrombosis Ethinyl Estradiol 4.0215869587 14671159
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
Pathway ID Pathway Name
REACT:6185 HIV Infection
REACT:474 Metabolism of carbohydrates
KEGG:03013 RNA transport
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
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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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