FB2022_02, released March 29, 2022

Allele: Hsap\KIF5B::HsapRETUAS.cDa

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General Information
Symbol
Hsap\KIF5B::Hsap\RETUAS.cDa
Species
H. sapiens
Name
UAS construct of Das
FlyBase ID
FBal0346148
Feature type
allele
Associated gene
Hsap\KIF5B::Hsap\RET
Associated Insertion(s)
Carried in Construct
P{UAS-hKIF5B-RET.D}
Key Links
Allele class
Mutagen
Nature of the Allele
Allele class
Mutagen
in vitro construct - regulatory fusion
(Das and Cagan, 2017)
Mutations Mapped to the Genome
 
Type
Location
Additional Notes
References
Associated Sequence Data
DDBJ / EMBL / GenBank
DNA sequence
Protein sequence
 
UniProtKB/Swiss-Prot
    UniProtKB/TrEMBL
       
      Progenitor genotype
      Carried in construct
      P{UAS-hKIF5B-RET.D}
      Cytology
      Nature of the lesion
      Statement
      Reference

      UAS regulates expression of a human KIF5B-RET fusion gene cDNA, derived from a non-small-cell lung cancer (NSCLC) patient, in which the Motor Domain (MD) and Coiled Coil (CC) domain of Hsap\KIF5B is fused to the kinase (K) domain of Hsap\RET.

      (Das and Cagan, 2017)
      Allele components
      Product class / Tool use(s)
      Regulatory region(s)
      UAS
      Encoded product / tool
      Hsap\KIF5B::Hsap\RET
      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  lung adenocarcinoma
      CEA
      (Das and Cagan, 2017)
      Modifiers Based on Experimental Evidence ( 1 )
      Disease
      Interaction
      References
      model of  lung adenocarcinoma
      is ameliorated by Arp3HMS00711
      (Das and Cagan, 2017)
      is ameliorated by CortactinHMS00658
      (Das and Cagan, 2017)
      is ameliorated by EgfrJF02283
      (Das and Cagan, 2017)
      is ameliorated by GripHMS02178
      (Das and Cagan, 2017)
      is ameliorated by GripJF02969
      (Das and Cagan, 2017)
      is ameliorated by InRHMS03166
      (Das and Cagan, 2017)
      is ameliorated by PvrHMS01662
      (Das and Cagan, 2017)
      is ameliorated by Rab21JF03338
      (Das and Cagan, 2017)
      is ameliorated by Rab23HMC04039
      (Das and Cagan, 2017)
      is ameliorated by Rab6HMS01486
      (Das and Cagan, 2017)
      is ameliorated by Rab7JF02377
      (Das and Cagan, 2017)
      is ameliorated by Rab8HMS01363
      (Das and Cagan, 2017)
      is ameliorated by Rab9HMS02635
      (Das and Cagan, 2017)
      is ameliorated by RetHMC03102
      (Das and Cagan, 2017)
      is ameliorated by Src64BHMC03327
      (Das and Cagan, 2017)
      is ameliorated by btlHMS02038
      (Das and Cagan, 2017)
      is ameliorated by htlHMS04514
      (Das and Cagan, 2017)
      Comments on Models/Modifiers Based on Experimental Evidence ( 0 )
       
      Disease-implicated variant(s)
       
      This allele represents a human variant implicated in disease.
      (Das and Cagan, 2017)
      KIF5B/RET_fusion
      (FlyBase curators, 2019-)
      Variants Synonym(s)
      Associated human disease model(s)
      External database links
      COSMIC_fusion: KIF5B-RET
      Comments concerning this variant
      Phenotypic Data
      Phenotypic Class
      Phenotype Manifest In
      Detailed Description
      Statement
      Reference

      Expressing Hsap\KIF5B::Hsap\RETUAS.cDa under the control of Scer\GAL4ptc.PU is nearly pupal lethal and the few adult escapers exhibit ectopic wing veins. Expression under the control of Scer\GAL4C-765 leads also to ectopic wing veins.

      Wing disc epithelial cells expressing Hsap\KIF5B::Hsap\RETUAS.cDa under the control of Scer\GAL4ptc.PU shift basally, show initial signs of cell polarity defects (E-cadherin, which is normally present primarily in the apical regions of epithelia, is delocalized), and extend long processes into the neighboring region of non-expressing cells, a phenomenon not observed in controls; these cells are associated with a severely degraded basal lamina.

      (Das and Cagan, 2017)
      External Data
      Interactions
      Show genetic interaction network for Enhancers & Suppressors
      Phenotypic Class
      Suppressed by
      Statement
      Reference

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has visible | adult stage phenotype, suppressible by EgfrJF02283, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by Rab21JF03338, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by Rab23HMC04039, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by GripHMS02178, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by Arp3HMS00711, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by CortactinHMS00658, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by Src64BHMC03327, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by PvrHMS01662, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by RetHMC03102, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by btlHMS02038, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by htlHMS04514, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by InRHMS03166, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by GripJF02969, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has abnormal cell polarity | third instar larval stage phenotype, suppressible | partially by GripJF02969, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by Rab6HMS01486, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by Rab7JF02377, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by Rab8HMS01363, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has increased mortality during development phenotype, suppressible | partially by Rab9HMS02635, Scer\GAL4ptc.PU

      (Das and Cagan, 2017)
      NOT suppressed by
      Other
      Statement
      Reference

      Hsap\KIF5B::Hsap\RETUAS.cDa, Rab6HMS01486, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Rab7JF02377, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU, Src64BHMC03327 has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, PvrHMS01662, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, RetHMC03102, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU, btlHMS02038 has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU, htlHMS04514 has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, InRHMS03166, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Rab8HMS01363, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Rab9HMS02635, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Rab21JF03338, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Hsap\KIF5B::Hsap\RETUAS.cDa, Rab23HMC04039, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      GripJF02969, Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      GripHMS02178, Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      Arp3HMS00711, Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)

      CortactinHMS00658, Hsap\KIF5B::Hsap\RETUAS.cDa, Scer\GAL4ptc.PU has partially lethal - majority die phenotype

      (Das and Cagan, 2017)
      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 (2)
      Reported As
      Symbol Synonym
      Hsap\KIF5B::Hsap\RETUAS.cDa
      Name Synonyms
      UAS construct of Das
      Secondary FlyBase IDs
        References (2)