FB2024_03 , released June 25, 2024
Allele: Hsap\GPC3G556R.UAS
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General Information
Symbol
Hsap\GPC3G556R.UAS
Species
H. sapiens
Name
FlyBase ID
FBal0358963
Feature type
allele
Associated gene
Hsap\GPC3
Associated Insertion(s)
Carried in Construct
M{UAS-hhGPC3.G556R}
Key Links
Transgenic product class
missense_variant
(Zhao et al., 2020)
Mutagen
Nature of the Allele
Transgenic product class
missense_variant
(Zhao et al., 2020)
Mutagen
in vitro construct
(Zhao et al., 2020)
Progenitor genotype
Carried in construct
M{UAS-hhGPC3.G556R}
Cytology
Description

UAS regulatory sequences drive expression of a Hsap\GPC3 cDNA that has been mutated to carry the G556R amino acid replacement (associated with susceptibility to Simpson-Golabi-Behmel Syndrome).

(Zhao et al., 2020)
Allele components
Component
Use(s)
Regulatory region(s)
UAS
Encoded product / tool
Hsap\GPC3
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
Variant Molecular Consequences
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
      Expression Data
      Reporter Expression
      Additional Information
      Statement
      Reference
       
      Marker for
      Reflects expression of
      Reporter construct used in assay
      Human Disease Associations
      Disease Ontology (DO) Annotations
      Models Based on Experimental Evidence ( 0 )
      Disease
      Evidence
      References
      Modifiers Based on Experimental Evidence ( 0 )
      Disease
      Interaction
      References
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Zhao et al., 2020)

      Disease model in flies has not been developed.

      (FlyBase curators, 2019-)
      GPC3:p.Gly556Arg
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      GPC3:p.Gly579Arg
      GPC3:p.Gly502Arg
      GPC3:p.Gly540Arg
      Associated human disease model(s)
        External database links
        ClinVar: 11695
        Comments concerning this variant
        Phenotypic Data
        Phenotypic Class
        Phenotype Manifest In
        Detailed Description
        Statement
        Reference
        External Data
        Interactions
        Show genetic interaction network for Enhancers & Suppressors
        Phenotypic Class
        Phenotype Manifest In
        Additional Comments
        Genetic Interactions
        Statement
        Reference
        Xenogenetic Interactions
        Statement
        Reference
        Complementation and Rescue Data
        Comments
        Images (0)
        Mutant
        Wild-type
        Stocks (0)
        Notes on Origin
        Discoverer
        External Crossreferences and Linkouts ( 0 )
        Synonyms and Secondary IDs (1)
        Reported As
        Symbol Synonym
        Hsap\GPC3G556R.UAS
        Name Synonyms
        Secondary FlyBase IDs
          References (2)