AutismKB 2.0

Annotation Detail for NPAT


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Basic Information Top
Gene Symbol:NPAT ( E14,p220 )
Gene Full Name: nuclear protein, ataxia-telangiectasia locus
Band: 11q22.3
Quick LinksEntrez ID:4863; OMIM: 601448; Uniprot ID:NPAT_HUMAN; ENSEMBL ID: ENSG00000149308; HGNC ID: 7896
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
D003010 Clorgyline Clorgyline results in increased expression of NPAT mRNAincreases expression 19691856
C017947 sodium arsenite sodium arsenite results in increased expression of NPAT mRNAincreases expression 12016162
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NPAT mRNAincreases expression 19465110
D013849 Thimerosal Thimerosal results in increased expression of NPAT mRNAincreases expression 16870260
C025643 vinclozolin vinclozolin affects the expression of NPAT mRNAaffects expression 19015723
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.3814514962 15322242 11752688
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 3.9216835633
MESH:D000310 Adrenal Gland Neoplasms sodium arsenite 5.3115276417
MESH:D018246 Adrenocortical Adenoma sodium arsenite 5.5116712894 17306315
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.2911748828
MESH:D001008 Anxiety Disorders vinclozolin 3.9319015723
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.4015340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 2.9715746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.0916835633
MESH:D006528 Carcinoma, Hepatocellular sodium arsenite 2.0016507464 17306315 15276417
MESH:D002294 Carcinoma, Squamous Cell sodium arsenite 2.4618572023
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5418670907 16120746 18850075
MESH:D002471 Cell Transformation, Neoplastic sodium arsenite 3.2219524636 20056578
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.4916835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2216354765 15668235 8697196 12621046 15340226
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.3817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2720055451 10048152 15322242
MESH:D003456 Cryptorchidism vinclozolin 4.7814966744
MESH:D017449 Dermatitis, Allergic Contact Thimerosal 5.0116958921 15932584
MESH:D002658 Developmental Disabilities Thimerosal 5.0715764492
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7317107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6120420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0211462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.7412711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.5118230668 15322242 16714409
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.3710568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.2711564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 3.9411858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.4320067830
MESH:D030342 Genetic Diseases, Inborn vinclozolin 5.4716973722
MESH:D005832 Genital Diseases, Male vinclozolin 5.9116417039
MESH:D005833 Genital Neoplasms, Female sodium arsenite 5.2216452187
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.2110696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.4911294989 10048152
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7111000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.3715340226 16120746 12621046
MESH:D006689 Hodgkin Disease sodium arsenite 3.4712676792
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.6616959395 15340226 16354765 18606429 8697196
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0118850075 18670907
MESH:D007248 Infertility, Male sodium arsenite 7.6015346721 12646999
MESH:D007248 Infertility, Male vinclozolin 7.6016467254
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0112878042 12200463
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7116580747
MESH:D007674 Kidney Diseases sodium arsenite 2.9820008137
MESH:D007984 Leydig Cell Tumor vinclozolin 5.2716417039
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms sodium arsenite 4.8215276417 16712894
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8216984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3112151625
MESH:D008171 Lung Diseases sodium arsenite 3.4019095001
MESH:D008175 Lung Neoplasms sodium arsenite 2.3817306315 19931552 15276417 17077188 16712894
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3811884234 19555203
MESH:D008545 Melanoma sodium arsenite 2.0716487513 19082730
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3112213967
MESH:D009369 Neoplasms sodium arsenite 2.6411559025
MESH:D009374 Neoplasms, Experimental sodium arsenite 4.1520056578
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.6514600291
MESH:D009436 Neural Tube Defects sodium arsenite 3.3612854658
MESH:D010051 Ovarian Neoplasms sodium arsenite 2.5217306315 15276417
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.8612520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0018163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 11.3511399792 11896295 11222880 11118676
MESH:D011297 Prenatal Exposure Delayed Effects vinclozolin 11.3519015723 18220299 18042343
MESH:D011469 Prostatic Diseases vinclozolin 5.4718220299
MESH:D011471 Prostatic Neoplasms Clorgyline 3.6019691856
MESH:D011471 Prostatic Neoplasms sodium arsenite 3.6016039940
MESH:D011472 Prostatitis vinclozolin 5.4718629315
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.2818990726
MESH:D012878 Skin Neoplasms sodium arsenite 6.0719524636 18572023
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0716192470
MESH:D016135 Spinal Dysraphism sodium arsenite 4.0712854658
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.5112697716
MESH:D001749 Urinary Bladder Neoplasms sodium arsenite 2.6211723127 17306315 16712894 16452187
MESH:D002583 Uterine Cervical Neoplasms sodium arsenite 4.1111813266
MESH:D014652 Vascular Diseases sodium arsenite 4.9617056641
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.2112125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.8615886252
No data
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Syndromic Genes

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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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