FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Hsap\FUSR495X.UAS.monocis
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General Information
Symbol
Hsap\FUSR495X.UAS.monocis
Species
H. sapiens
Name
FlyBase ID
FBal0367026
Feature type
allele
Associated gene
Hsap\FUS
Associated Insertion(s)
Carried in Construct
P{UAS-hFUS.monocis.R495X}
Key Links
Transgenic product class
stop_gained
(Brunet et al., 2021)
Mutagen
Nature of the Allele
Transgenic product class
stop_gained
(Brunet et al., 2021)
Mutagen
in vitro construct
(Brunet et al., 2021)
Progenitor genotype
Carried in construct
P{UAS-hFUS.monocis.R495X}
Cytology
Description

UASt regulatory sequences drive expression of a monocistronic transcript that encodes only the canonical Hsap\FUS coding sequence that is encoded in the +1 frame by the Hsap\FUS transcript represented by ENST00000254108 (GenBank:NM_004960); the sequence has been mutated so that this +1 frame coding sequence encodes a disease-related variant (it carries the R495X mutation that causes a premature stop codon and which is associated with severe familial and sporadic amyotrophic lateral sclerosis). The endogenous ENST00000254108 transcript can also encode an alternative 'altFUS' open reading frame (GenBank:BK012000) in the +2 frame; this transgene does not express the altFUS protein due to every Met residue (ATG) in the altFUS +2 frame having been mutated to Thr (ACG) (these mutations are synonymous in the +1 frame of the the canonical Hsap\FUS coding sequence, being TAT to TAC, which both encode Tyr).

(Brunet et al., 2021)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Hsap\FUS
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 ( 1 )
      Disease
      Evidence
      References
      model of  amyotrophic lateral sclerosis type 6
      CEA
      (Brunet et al., 2021)
      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.
      (Brunet et al., 2021)
      FUS:p.Arg495Ter
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      FUS:p.Arg491Ter
      FUS:p.Arg494Ter
      Associated human disease model(s)
      External database links
      ClinVar: FUS_29707ClinVar: FUS_89197
      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\FUSR495X.UAS.monocis
      Name Synonyms
      Secondary FlyBase IDs
        References (2)