AutismKB 2.0

Annotation Detail for PAG1


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Basic Information Top
Gene Symbol:PAG1 ( CBP,FLJ37858,MGC138364,PAG )
Gene Full Name: phosphoprotein associated with glycosphingolipid microdomains 1
Band: 8q21.13
Quick LinksEntrez ID:55824; OMIM: 605767; Uniprot ID:PAG1_HUMAN; ENSEMBL ID: ENSG00000076641; HGNC ID: 30043
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Signaling by EGFR
Signaling in Immune system
Pathway IDPathway Name
200083CXCR4-mediated signaling events
200062TCR signaling in naive CD8+ T cells
200022TCR signaling in naive CD4+ T cells
No data
Pathway IDPathway Name
500514Gab1 signalosome
500479Phosphorylation of CD3 and TCR zeta chains
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
D001564 Benzo(a)pyrene Benzo(a)pyrene results in decreased expression of PAG1 mRNAdecreases expression 20064835
C051890 irinotecan irinotecan analog results in increased expression of PAG1 mRNAincreases expression 18927307
D013654 Taurine Taurine results in decreased expression of PAG1 mRNAdecreases expression 16579726
D014635 Valproic Acid Valproic Acid results in increased expression of PAG1 mRNAincreases expression 19101580
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D000014 Abnormalities, Drug-Induced Valproic Acid 4.118875741
MESH:D000015 Abnormalities, Multiple Valproic Acid 4.3519490988
MESH:D000230 Adenocarcinoma Benzo(a)pyrene 2.0620464547 20127859
MESH:D000236 Adenoma Benzo(a)pyrene 2.866695378
MESH:D000550 Amblyopia Valproic Acid 5.9617688650
MESH:D001008 Anxiety Disorders Valproic Acid 3.9017497229
MESH:D017544 Aortic Aneurysm, Abdominal Benzo(a)pyrene 4.6419183758
MESH:D001321 Autistic Disorder Valproic Acid 1.9818177632 19232924 16609825 18940202 18558336 18396377 18985861 17688650 15238991 17157402 18775368 19460635 20603192 17507914 18316065
MESH:D001714 Bipolar Disorder Valproic Acid 3.2420046352 17594078
MESH:D001848 Bone Diseases, Developmental Valproic Acid 3.638888407
MESH:D001943 Breast Neoplasms Benzo(a)pyrene 1.9920146248 17474063
MESH:D002294 Carcinoma, Squamous Cell Benzo(a)pyrene 2.1320419170
MESH:D002659 Child Development Disorders, Pervasive Valproic Acid 2.8220734317
MESH:D003110 Colonic Neoplasms irinotecan 2.6417725105 17287894
MESH:D015179 Colorectal Neoplasms irinotecan 2.3616391804 16303861 17159606 17454858 15273666 18509181 18259882
MESH:D019465 Craniofacial Abnormalities Valproic Acid 1.9116575769 8888407 17688650
MESH:D058065 Diabetic Cardiomyopathies Taurine 6.6816025228
MESH:D056486 Drug-Induced Liver Injury Taurine 4.829328219
MESH:D056486 Drug-Induced Liver Injury Valproic Acid 4.8219641884 1733752
MESH:D004421 Dystonia Valproic Acid 4.511851702
MESH:D004831 Epilepsies, Myoclonic Valproic Acid 4.7117275665 3659116
MESH:D004828 Epilepsies, Partial Valproic Acid 4.6416628512 3922381
MESH:D004827 Epilepsy Valproic Acid 3.1118234410 20417680
MESH:D004832 Epilepsy, Absence Valproic Acid 3.966254150 7562514 6426943
MESH:D017029 Epilepsy, Complex Partial Valproic Acid 4.867750514
MESH:D004830 Epilepsy, Tonic-Clonic Valproic Acid 4.693659116
MESH:D004938 Esophageal Neoplasms Benzo(a)pyrene 2.0816530937
MESH:D005234 Fatty Liver Valproic Acid 3.7219224547 14986274
MESH:D005315 Fetal Diseases Valproic Acid 5.6116575769
MESH:D005317 Fetal Growth Retardation Valproic Acid 4.648888407 18558336
MESH:D006330 Heart Defects, Congenital Benzo(a)pyrene 2.8320471113
MESH:D006849 Hydrocephalus Valproic Acid 5.5017688650
MESH:D015470 Leukemia, Myeloid, Acute Valproic Acid 2.2017596541 16294345
MESH:D008106 Liver Cirrhosis, Experimental Taurine 3.2715893842 15931870
MESH:D008113 Liver Neoplasms Benzo(a)pyrene 2.1520195826 21137059
MESH:D017563 Lung Diseases, Interstitial Valproic Acid 4.9817228818
MESH:D008175 Lung Neoplasms Benzo(a)pyrene 1.5718816296 18520028 20464547 17053015 20869020 6695378 18569708 20064080 20135361
MESH:D008881 Migraine Disorders Valproic Acid 3.4718765137 18803445
MESH:D009062 Mouth Neoplasms Benzo(a)pyrene 3.5016381670
MESH:D052016 Mucositis irinotecan 5.6417159606
MESH:D009139 Musculoskeletal Abnormalities Valproic Acid 4.458888407
MESH:D009190 Myelodysplastic Syndromes Valproic Acid 3.3517596541
MESH:D009362 Neoplasm Metastasis irinotecan 3.3018259882
MESH:D009369 Neoplasms Benzo(a)pyrene 2.3311141357
MESH:D009436 Neural Tube Defects Valproic Acid 3.3716359493 8888407
MESH:D009447 Neuroblastoma irinotecan 3.658761367
MESH:D017599 Neuroectodermal Tumors irinotecan 5.368761367
MESH:D011297 Prenatal Exposure Delayed Effects Valproic Acid 4.4620603192
MESH:D011471 Prostatic Neoplasms Benzo(a)pyrene 2.9117292933
MESH:D019310 Pseudolymphoma Valproic Acid 5.2611422049 12752131
MESH:D012208 Rhabdomyosarcoma Valproic Acid 4.6419155313
MESH:D012559 Schizophrenia Valproic Acid 2.1019110320 15737665
MESH:D012640 Seizures Valproic Acid 2.9917978042 1511512 11044598 14763951 16876388 15475178 3137016 11738929
MESH:D012878 Skin Neoplasms Benzo(a)pyrene 2.5219755658 10029692
MESH:D016135 Spinal Dysraphism Valproic Acid 4.0919490988
MESH:D013226 Status Epilepticus Valproic Acid 5.2612833885
MESH:D013274 Stomach Neoplasms Benzo(a)pyrene 2.6320155912 2093021
MESH:D013274 Stomach Neoplasms irinotecan 2.6315723263
MESH:D014178 Translocation, Genetic Valproic Acid 5.9617262798
MESH:D020194 Unverricht-Lundborg Syndrome Valproic Acid 5.153119515
MESH:D001749 Urinary Bladder Neoplasms Benzo(a)pyrene 2.3017053015
MESH:D014564 Urogenital Abnormalities Valproic Acid 5.208888407
Pathway ID Pathway Name
REACT:9417 Signaling by EGFR
REACT:6900 Signaling in Immune system
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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