AutismKB 2.0

Annotation Detail for PGAP1


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Basic Information Top
Gene Symbol:PGAP1 ( Bst1,FLJ42774,ISPD3024 )
Gene Full Name: post-GPI attachment to proteins 1
Band: 2q33.1
Quick LinksEntrez ID:80055; OMIM: 611655; Uniprot ID:PGAP1_HUMAN; ENSEMBL ID: ENSG00000197121; HGNC ID: 25712
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
Pathway IDPathway Name
hsa00563Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
hsa01100Metabolic pathways
Pathway IDPathway Name
Metabolism of proteins
No data
No data
Pathway IDPathway Name
500547Attachment of GPI anchor to uPAR
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D016604 Aflatoxin B1 Aflatoxin B1 affects the expression of PGAP1 proteinaffects expression 20106945
D007529 Isoflavones Isoflavones results in increased expression of PGAP1 mRNAincreases expression 17374662
D012643 Selenium Selenium results in decreased expression of PGAP1 mRNAdecreases expression 19244175
D013749 Tetrachlorodibenzodioxin Tetrachlorodibenzodioxin results in decreased expression of PGAP1 mRNAdecreases expression 20106945
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Tetrachlorodibenzodioxin 3.4714514962 11752688 15322242
MESH:D018248 Adenoma, Liver Cell Tetrachlorodibenzodioxin 4.0116835633
MESH:D000505 Alopecia Isoflavones 5.0417569567
MESH:D000740 Anemia Tetrachlorodibenzodioxin 3.3411748828
MESH:D001778 Blood Coagulation Disorders Tetrachlorodibenzodioxin 3.4712125929
MESH:D001836 Body Weight Changes Tetrachlorodibenzodioxin 4.5115340226
MESH:D001848 Bone Diseases, Developmental Tetrachlorodibenzodioxin 3.0015746008
MESH:D001943 Breast Neoplasms Tetrachlorodibenzodioxin 1.6720435547
MESH:D002277 Carcinoma Tetrachlorodibenzodioxin 3.1216835633
MESH:D006528 Carcinoma, Hepatocellular Aflatoxin B1 1.9921507988 12907637 12619106
MESH:D006332 Cardiomegaly Tetrachlorodibenzodioxin 2.5618670907 16120746 18850075
MESH:D002318 Cardiovascular Diseases Isoflavones 4.4117689850
MESH:D018281 Cholangiocarcinoma Tetrachlorodibenzodioxin 3.5316835633
MESH:D002972 Cleft Palate Tetrachlorodibenzodioxin 2.2415340226 12621046 8697196 15668235 16354765
MESH:D003092 Colitis Selenium 4.3417936198
MESH:D015179 Colorectal Neoplasms Isoflavones 2.9017116718
MESH:D000013 Congenital Abnormalities Tetrachlorodibenzodioxin 3.4314669216 17141729
MESH:D019465 Craniofacial Abnormalities Tetrachlorodibenzodioxin 1.2710048152 15322242 20055451
MESH:D003924 Diabetes Mellitus, Type 2 Tetrachlorodibenzodioxin 1.7417107852
MESH:D056486 Drug-Induced Liver Injury Selenium 4.0815131321
MESH:D056486 Drug-Induced Liver Injury Tetrachlorodibenzodioxin 4.0820420201
MESH:D004362 Drug Toxicity Tetrachlorodibenzodioxin 3.0511462148
MESH:D004487 Edema Tetrachlorodibenzodioxin 2.8011000095 12711302
MESH:D004489 Edema, Cardiac Tetrachlorodibenzodioxin 4.6218230668 16714409 15322242
MESH:D004715 Endometriosis Tetrachlorodibenzodioxin 3.4210568697 9294722
MESH:D005124 Eye Abnormalities Tetrachlorodibenzodioxin 3.3111564622
MESH:D005313 Fetal Death Tetrachlorodibenzodioxin 4.0211858732
MESH:D005355 Fibrosis Tetrachlorodibenzodioxin 3.5120067830
MESH:D006058 Gonadal Disorders Tetrachlorodibenzodioxin 5.3210696789
MESH:D006330 Heart Defects, Congenital Tetrachlorodibenzodioxin 2.5110048152 11294989
MESH:D006333 Heart Failure Selenium 3.2917162251
MESH:D006470 Hemorrhage Tetrachlorodibenzodioxin 3.7611000095
MESH:D006529 Hepatomegaly Tetrachlorodibenzodioxin 3.4515340226 12621046 16120746
MESH:D019584 Hot Flashes Isoflavones 5.7014716179 17290160
MESH:D006869 Hydronephrosis Tetrachlorodibenzodioxin 4.7715340226 18606429 16959395 8697196 16354765
MESH:D006973 Hypertension Tetrachlorodibenzodioxin 2.0218850075 18670907
MESH:D007249 Inflammation Tetrachlorodibenzodioxin 2.0312200463 12878042
MESH:D007251 Influenza, Human Selenium 4.9216624496
MESH:D007569 Jaw Abnormalities Tetrachlorodibenzodioxin 3.7616580747
MESH:D007676 Kidney Failure, Chronic Selenium 4.3116518626
MESH:D008106 Liver Cirrhosis, Experimental Tetrachlorodibenzodioxin 1.2512878042
MESH:D008113 Liver Neoplasms Aflatoxin B1 4.8518177683 15890375 9163691 2125692
MESH:D008113 Liver Neoplasms Tetrachlorodibenzodioxin 4.8516984957
MESH:D008114 Liver Neoplasms, Experimental Aflatoxin B1 6.578603461
MESH:D008114 Liver Neoplasms, Experimental Tetrachlorodibenzodioxin 6.5712151625
MESH:D008175 Lung Neoplasms Aflatoxin B1 2.3814755239
MESH:D008175 Lung Neoplasms Tetrachlorodibenzodioxin 2.3819555203 11884234
MESH:D008325 Mammary Neoplasms, Experimental Selenium 2.9915318939
MESH:D008654 Mesothelioma Selenium 2.9215107826
MESH:D017202 Myocardial Ischemia Tetrachlorodibenzodioxin 3.3412213967
MESH:D009421 Nervous System Malformations Tetrachlorodibenzodioxin 3.7214600291
MESH:D010024 Osteoporosis Isoflavones 4.3216562857
MESH:D010382 Peliosis Hepatis Tetrachlorodibenzodioxin 4.9712520081
MESH:D010954 Plasmacytoma Selenium 5.6115087411
MESH:D017119 Porphyria Cutanea Tarda Tetrachlorodibenzodioxin 4.0718163543
MESH:D011297 Prenatal Exposure Delayed Effects Tetrachlorodibenzodioxin 3.8211896295 11118676 11399792 11222880
MESH:D011471 Prostatic Neoplasms Isoflavones 4.2517571952 16365062 17219775 17374662
MESH:D015619 Respiratory System Abnormalities Tetrachlorodibenzodioxin 4.3518990726
MESH:D012878 Skin Neoplasms Tetrachlorodibenzodioxin 2.2016192470
MESH:D013959 Thyroid Diseases Tetrachlorodibenzodioxin 4.6212697716
MESH:D054079 Vascular Malformations Tetrachlorodibenzodioxin 5.3212125929
MESH:D019282 Wasting Syndrome Tetrachlorodibenzodioxin 4.9715886252
Pathway ID Pathway Name
KEGG:00563 Glycosylphosphatidylinositol(GPI)-anchor biosynthesis
KEGG:01100 Metabolic pathways
REACT:17015 Metabolism of proteins
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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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