FB2026_01 , released March 12, 2026
FB2026_01 , released March 12, 2026
Allele: Dmel\Khcd.UAS
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General Information
Symbol
Dmel\Khcd.UAS
Species
D. melanogaster
Name
FlyBase ID
FBal0400456
Feature type
allele
Associated gene
Dmel\Khc
Associated Insertion(s)
Carried in Construct
P{UAS-Khc.d}
Key Links
Genomic Maps

Transgenic product class
inframe_deletion
(Banerjee et al., 2024)
Mutagen
Nature of the Allele
Transgenic product class
inframe_deletion
(Banerjee et al., 2024)
Mutagen
in vitro construct
(Banerjee et al., 2024)
Progenitor genotype
Carried in construct
P{UAS-Khc.d}
Cytology
Description

UASt sequences regulate expression of Khc that carries an in-frame deletion of codon Ser95. This change is equivalent to a p.Ser90del change in the orthologous human KIF5C gene, a variant identified in a patient with infantile onset epilepsy and psychomotor retardation.

(Banerjee et al., 2024)
Allele components
Component
Use(s)
Regulatory region(s)
UASt
Encoded product / tool
Khc
Mutations Mapped to the Genome
Curation Data
Type
Location
Additional Notes
References
deletion
2R:16,270,116..16,270,118 [-]
Comment:

An in-frame deletion removing amino acid Ser95 by a 3 bp deletion. Analogous deletion in human KIF5C implicated in neurodegenerative disease; site of nucleotide deletion in fly gene inferred by FlyBase curator based on reported amino acid change.

(Banerjee et al., 2024)
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  neurodegenerative disease
      CEA
      (Banerjee et al., 2024)
      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.
      (Banerjee et al., 2024)
      KIF5C:p.Ser90del
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      ClinVar: 504269
      Comments concerning this variant
      Phenotypic 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
      Khcd.UAS
      Name Synonyms
      Secondary FlyBase IDs
        References (2)