AutismKB 2.0

Annotation Detail for NPNT


View Evidences View Variants View Annotations
Basic Information Top
Gene Symbol:NPNT ( EGFL6L,POEM )
Gene Full Name: nephronectin
Band: 4q24
Quick LinksEntrez ID:255743; OMIM: 610306; Uniprot ID:NPNT_HUMAN; ENSEMBL ID: ENSG00000168743; HGNC ID: 27405
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
No data
Desease Name
CARDIOVASCULAR
pulmonary function
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of NPNT mRNAdecreases expression 20713471
C006253 pirinixic acid pirinixic acid results in increased expression of NPNT mRNAincreases expression 18301758
18445702
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in increased expression of NPNT mRNAincreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.5915322242 14514962 11752688
MESH:D055371 Acute Lung Injury pirinixic acid 3.6418653653
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620127859 20464547
MESH:D000236 Adenoma Benzo(a)pyrene 2.886695378
MESH:D018248 Adenoma, Liver Cell pirinixic acid 12.5116434500
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 12.5116835633
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3911748828
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.7319183758
MESH:D001778 Blood Coagulation Disorders pirinixic acid 10.4219483382
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 10.4212125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.6615340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0215746008
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.8620146248 17474063
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.8620435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1616835633
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1420419170
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5818850075 16120746 18670907
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5816835633
MESH:D002779 Cholestasis pirinixic acid 3.1519176532
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.258697196 15340226 16354765 12621046 15668235
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4817141729 14669216
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 20055451 15322242
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.5918249437
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 1.6220420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0911462148
MESH:D004487 Edema pirinixic acid 8.1812083418
MESH:D004487 Edema Tetrachlorodibenzodioxin 8.1812711302 11000095
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.7715322242 16714409 18230668
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4710568697 9294722
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0916530937
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3411564622
MESH:D005234 Fatty Liver pirinixic acid 3.2520131406 19236843
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.1111858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.6020067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.4610696789
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 7.1120471113
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 7.1110048152 11294989
MESH:D006333 Heart Failure pirinixic acid 2.7820558911
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.8211000095
MESH:D006529 Hepatomegaly pirinixic acid 10.5316221962 18467677 19772884 19176532
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 10.5312621046 16120746 15340226
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.9115340226 16354765 8697196 16959395 18606429
MESH:D006943 Hyperglycemia pirinixic acid 3.6320558911
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0318670907 18850075
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0412878042 12200463
MESH:D007333 Insulin Resistance pirinixic acid 2.9016306350
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.8216580747
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 2.2415474484
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 2.2412878042
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 8.1020195826 21137059
MESH:D008113 Liver Neoplasms pirinixic acid 8.1015890375 20007298 16377806
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 8.1016984957
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 2.3512151625
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 2.2820064080 20464547 20869020 18569708 18520028 20135361 6695378 18816296 17053015
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.2811884234 19555203
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5316381670
MESH:D009135 Muscular Diseases pirinixic acid 4.1616239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.2919151258
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3812213967
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.2916411023
MESH:D009369 Neoplasms Benzo(a)pyrene 5.4411141357
MESH:D009369 Neoplasms pirinixic acid 5.4417405874
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.8014600291
MESH:D009765 Obesity pirinixic acid 1.8920558911
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 5.1212520081
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.1418163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.9311896295 11222880 11399792 11118676
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9017292933
MESH:D015427 Reperfusion Injury pirinixic acid 2.5619058328
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.4218990726
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 6.0510029692 19755658
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 6.0516192470
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 1.562093021 20155912
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.7712697716
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3117053015
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.4612125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 5.1215886252
Pathway ID Pathway Name
KEGG:04512 ECM-receptor interaction
Pharmacogenomics Knowledge Base Top
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


Copyright © 2017, Center for Bioinformatics , Peking University | All Rights Reserved