AutismKB 2.0

Annotation Detail for GBF1


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Basic Information Top
Gene Symbol:GBF1 ( ARF1GEF,FLJ21263,FLJ21500,KIAA0248,MGC134877,MGC134878 )
Gene Full Name: golgi brefeldin A resistant guanine nucleotide exchange factor 1
Band: 10q24.32
Quick LinksEntrez ID:8729; OMIM: 603698; Uniprot ID:GBF1_HUMAN; ENSEMBL ID: ENSG00000107862; HGNC ID: 4181
Relate to Another Database: SFARIGene; denovo-db
Related Pathway Information Top
No data
No data
Pathway IDPathway Name
Membrane Trafficking
Pathway IDPathway Name
200167Arf1 pathway
No data
Pathway IDPathway Name
500013Clathrin derived vesicle budding
500011COPI Mediated Transport
Related Diseases/Disorders Top
Comparative Toxicogenomics Database Top
No data
No data
Pathway ID Pathway Name
REACT:11123 Membrane Trafficking
Pharmacogenomics Knowledge Base Top
  • PharmGKB Accession:PA28595
  • No data
    Releated disease ID Related disease Name
    PA446155Precursor Cell Lymphoblastic Leukemia-Lymphoma
    Releated drug ID Related drug Name
    PA448976choline
    PA450379mercaptopurine
    PA450428methotrexate
    Drug Bank Top

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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