AutismKB 2.0

Annotation Detail for G3BP1


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Basic Information Top
Gene Symbol:G3BP1 ( G3BP,HDH-VIII,MGC111040 )
Gene Full Name: GTPase activating protein (SH3 domain) binding protein 1
Band: 5q33.1
Quick LinksEntrez ID:10146; OMIM: 608431; Uniprot ID:G3BP1_HUMAN; ENSEMBL ID: ENSG00000145907; HGNC ID: 30292
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
Related Diseases/Disorders Top
No data
Desease IDDesease Name
1843Metastasis to lymph nodes
1976Squamous cell cancer
1993Esophagus cancer
No data
No data
No data
Comparative Toxicogenomics Database Top
Chemical ID Chemical Name Interaction Interaction Action Publication
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 G3BP1 mRNAdecreases expression 19150397
C006253 pirinixic acid pirinixic acid results in decreased expression of G3BP1 mRNAdecreases expression 17426115
Disease ID Disease Name Direct Evidence Inference Chemical Name Inference Score Publication
MESH:D055371 Acute Lung Injury pirinixic acid 3.7218653653
MESH:D018248 Adenoma, Liver Cell pirinixic acid 4.3716434500
MESH:D001778 Blood Coagulation Disorders pirinixic acid 3.7019483382
MESH:D002471 Cell Transformation, Neoplastic 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 3.0420889678
MESH:D002779 Cholestasis pirinixic acid 3.1919176532
MESH:D003876 Dermatitis, Atopic pirinixic acid 2.6118249437
MESH:D004487 Edema pirinixic acid 3.0212083418
MESH:D004938 Esophageal Neoplasms 7,8-Dihydro-7,8-dihydroxybenzo(a)pyrene 9,10-oxide 2.1620426865
MESH:D005234 Fatty Liver pirinixic acid 3.3119236843 20131406
MESH:D006333 Heart Failure pirinixic acid 2.8120558911
MESH:D006529 Hepatomegaly pirinixic acid 3.7616221962 19772884 18467677 19176532
MESH:D006943 Hyperglycemia pirinixic acid 3.6920558911
MESH:D007333 Insulin Resistance pirinixic acid 2.9316306350
MESH:D008106 Liver Cirrhosis, Experimental pirinixic acid 1.3515474484
MESH:D008113 Liver Neoplasms pirinixic acid 1.9520007298 16377806 15890375
MESH:D009135 Muscular Diseases pirinixic acid 4.2716239165
MESH:D009203 Myocardial Infarction pirinixic acid 2.3019151258
MESH:D015428 Myocardial Reperfusion Injury pirinixic acid 3.3316411023
MESH:D009369 Neoplasms pirinixic acid 2.1417405874
MESH:D009765 Obesity pirinixic acid 1.9020558911
MESH:D015427 Reperfusion Injury pirinixic acid 2.5819058328
No data
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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