AutismKB 2.0

Annotation Detail for NUP214


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NUP214 ( CAIN,CAN,D9S46E,MGC104525,N214 )
Gene Full Name: nucleoporin 214kDa
Band: 9q34.13
Quick LinksEntrez ID:8021; OMIM: 114350; Uniprot ID:NU214_HUMAN; ENSEMBL ID: ENSG00000126883; HGNC ID: 8064
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
Pathway IDPathway Name
200123BMP receptor signaling
200070Signaling events mediated by HDAC Class I
200152Regulation of cytoplasmic and nuclear SMAD2/3 signaling
200019Signaling events mediated by HDAC Class II
200097Sumoylation by RanBP2 regulates transcriptional repression
No data
No data
Related Diseases/Disorders Top
No data
No data
No data
No data
Desease Name
Leukemia, T-cell acute lymphoblastic
Leukemia, acute myeloid
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D000082 Acetaminophen Acetaminophen affects the expression of NUP214 mRNAaffects expression 17562736
D015123 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide results in decreased expression of NUP214 mRNAdecreases expression 19150397
D005419 Flavonoids Flavonoids results in increased expression of NUP214 mRNAincreases expression 15465739
C015329 lycopene lycopene results in decreased expression of NUP214 mRNAdecreases expression 16886892
C006253 pirinixic acid [pirinixic acid binds to and results in increased activity of PPARA protein] which results in increased expression of NUP214 mRNAaffects binding|increases activity|increases expression 19710929
D010936 Plant Extracts Plant Extracts results in increased expression of NUP214 mRNAincreases expression 15465739
C025299 polyphenols polyphenols results in increased expression of NUP214 mRNAincreases expression 15465739
D014284 Triiodothyronine [Triiodothyronine co-treated with Tetrachlorodibenzodioxin] results in decreased expression of NUP214 mRNAaffects cotreatment|decreases expression 14761676
D013749 Tetrachlorodibenzodioxin [Triiodothyronine co-treated with Tetrachlorodibenzodioxin] results in decreased expression of NUP214 mRNAaffects cotreatment|decreases expression 14761676
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.1314514962 15322242 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.3418653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 10.8716434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 10.8716835633
MESH:D000544 Alzheimer Disease Plant Extracts 3.0516962711
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.1411748828
MESH:D000799 Angioedema Acetaminophen 4.1610982225
MESH:D001169 Arthritis, Experimental Plant Extracts 4.0614686799
MESH:D001321 Autistic Disorder Acetaminophen 1.4018445737
MESH:D001778 Blood Coagulation Disorders pirinixic acid 9.4619483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 9.4612125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.1115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.8915746008
MESH:D002545 Brain Ischemia Plant Extracts 5.0116041641
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6920435547
MESH:D002057 Burns, Chemical Plant Extracts 5.659625245
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 2.9616835633
MESH:D006528 Carcinoma, Hepatocellular Acetaminophen 3.273084413
MESH:D006528 Carcinoma, Hepatocellular Plant Extracts 3.2718834353
MESH:D006332 Cardiomegaly Plant Extracts 7.3317645561
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 7.3318850075 18670907 16120746
MESH:D002386 Cataract Acetaminophen 2.6910977129
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.8620889678
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.3416835633
MESH:D002779 Cholestasis pirinixic acid 2.9719176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.1816354765 12621046 15340226 15668235 8697196
MESH:D003110 Colonic Neoplasms polyphenols 2.7016293270
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.2414669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2610048152 20055451 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5118249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7117107852
MESH:D003928 Diabetic Nephropathies Plant Extracts 4.5919706694
MESH:D056486 Drug-Induced Liver Injury Acetaminophen 6.5316109766 14550746 18071297 16485898 17906064 14725611 19416960 19370779 19739265 11743745 15619225 12594235 11834606 10663392 11461765 17562736 16177239 16393943 11421492 11529661 16227642 19923254 16081117 2444490 12958197 12392966 10915739 11739529 14986274 12540782 10774834 12705907 15968718 16781746 17522070 18713872 11287661 12153990 19420014 19164858 19085960
MESH:D056486 Drug-Induced Liver Injury polyphenols 6.5319370779
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 6.5320420201
MESH:D056487 Drug-Induced Liver Injury, Chronic Acetaminophen 4.4219426721
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 2.9111462148
MESH:D004487 Edema pirinixic acid 12.7212083418
MESH:D004487 Edema Plant Extracts 12.7212787963
MESH:D004487 Edema Tetrachlorodibenzodioxin 12.7212711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.2218230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.2110568697 9294722
MESH:D004719 Endomyocardial Fibrosis Plant Extracts 6.0015268973
MESH:D004827 Epilepsy Plant Extracts 3.8219439326 19700373
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1120426865
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.1611564622
MESH:D005234 Fatty Liver pirinixic acid 8.7119236843 20131406
MESH:D005234 Fatty Liver Plant Extracts 8.7115975614
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.7111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.2120067830
MESH:D005756 Gastritis Acetaminophen 3.9916983495
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 4.9110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4311294989 10048152
MESH:D006333 Heart Failure pirinixic acid 7.6420558911
MESH:D006333 Heart Failure Plant Extracts 7.6418097624
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.5411000095
MESH:D006529 Hepatomegaly pirinixic acid 9.1419772884 16221962 19176532 18467677
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 9.1412621046 15340226 16120746
MESH:D006561 Herpes Simplex Plant Extracts 4.9110715843
MESH:D015658 HIV Infections Plant Extracts 3.7812878215
MESH:D019584 Hot Flashes Plant Extracts 5.0617454163 14716179 16566672
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.3618606429 8697196 16354765 15340226 16959395
MESH:D006930 Hyperalgesia Acetaminophen 2.8616870215
MESH:D006943 Hyperglycemia pirinixic acid 3.3820558911
MESH:D020138 Hyperhomocysteinemia Plant Extracts 4.6416484555
MESH:D006949 Hyperlipidemias Plant Extracts 4.6915268973 15975614
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 1.9718670907 18850075
MESH:D007249 Inflammation Flavonoids 12.8617296493
MESH:D007249 Inflammation Plant Extracts 12.8615997105 12787963 16366677 19332304
MESH:D007249 Inflammation polyphenols 12.8616366677
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 12.8612200463 12878042
MESH:D007333 Insulin Resistance pirinixic acid 2.7616306350
MESH:D007414 Intestinal Neoplasms Plant Extracts 4.8112628509 12351151 12584176
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.5416580747
MESH:D007674 Kidney Diseases Acetaminophen 2.3015629191 12587719
MESH:D015470 Leukemia, Myeloid, Acute marker/mechanism
MESH:D008103 Liver Cirrhosis Plant Extracts 3.8417157831
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 3.6215474484
MESH:D008106 Liver Cirrhosis, Experimental Plant Extracts 3.6215479170
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 3.6212878042
MESH:D008107 Liver Diseases Acetaminophen 6.9611587558 12969438 12587719 19014921 19460945 19784758 16610002 16611625
MESH:D008107 Liver Diseases Plant Extracts 6.9617034775
MESH:D008107 Liver Diseases polyphenols 6.9616698588
MESH:D017114 Liver Failure, Acute Acetaminophen 3.4317185352 16871587
MESH:D008113 Liver Neoplasms pirinixic acid 7.8620007298 15890375 16377806
MESH:D008113 Liver Neoplasms Plant Extracts 7.8619168119
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 7.8616984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.2212151625
MESH:D008175 Lung Neoplasms Plant Extracts 2.6420869020
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.6411884234 19555203
MESH:D008546 Melanoma, Experimental Acetaminophen 3.8319513568
MESH:D009135 Muscular Diseases pirinixic acid 3.7616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2119151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.1812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.1016411023
MESH:D009369 Neoplasms lycopene 5.7017051425
MESH:D009369 Neoplasms pirinixic acid 5.7017405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.4514600291
MESH:D019954 Neurobehavioral Manifestations Plant Extracts 5.4417168769
MESH:D019636 Neurodegenerative Diseases Acetaminophen 3.0418514411
MESH:D009765 Obesity pirinixic acid 4.8920558911
MESH:D009765 Obesity Plant Extracts 4.8920132043 19056576
MESH:D010146 Pain Acetaminophen 2.5616870215
MESH:D010212 Papilloma Plant Extracts 4.7515173996 16517061
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.5712520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 3.8018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.4811118676 11399792 11896295 11222880
MESH:D011471 Prostatic Neoplasms lycopene 4.0017337101 15084515
MESH:D011471 Prostatic Neoplasms Plant Extracts 4.0017804756 14666653
MESH:D015427 Reperfusion Injury pirinixic acid 2.4719058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.0818990726
MESH:D012878 Skin Neoplasms Plant Extracts 6.1715173996 16517061
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.1716192470
MESH:D013276 Stomach Ulcer Plant Extracts 4.1015255614 18237397 18193104 17135157 12787963
MESH:D013705 Temporomandibular Joint Disorders Plant Extracts 14.3617997062
MESH:D013705 Temporomandibular Joint Disorders polyphenols 14.3617997062
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.2212697716
MESH:D014581 Urticaria Acetaminophen 3.2010982225
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 4.9112125929
MESH:D018487 Ventricular Dysfunction, Left Plant Extracts 5.0018097624
MESH:D020257 Ventricular Remodeling Plant Extracts 5.6018097624
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.5715886252
MESH:D014947 Wounds and Injuries Plant Extracts 4.4220213670 19894650
Pathway ID Pathway Name
REACT:6185 HIV Infection
REACT:474 Metabolism of carbohydrates
REACT:21257 Metabolism of RNA
KEGG:03013 RNA transport
REACT:15518 Transmembrane transport of small molecules
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA31851
  • No data
    Releated disease ID Related disease Name
    PA443560Breast Neoplasms
    Releated drug ID Related drug Name
    PA451578tacrolimus
    Drug Bank Top

    Simple Query:


      (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