FlyBase Allele Report: Hsap\EGFR[Δ.UAS]

General Information

Symbol

Hsap\EGFR^Δ.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0294203

Feature type

allele

Associated gene

Hsap\EGFR

Associated Insertion(s)

Carried in Construct

P{UAS-hEGFR.Δ}

Also Known As

ΔEGFR

Key Links

Transgenic product class

inframe_deletion

(Read et al., 2013)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Read et al., 2013)

Mutagen

in vitro construct

(Read et al., 2013)

Progenitor genotype

Carried in construct

P{UAS-hEGFR.Δ}

Cytology

Description

UASt sequences regulate expression of an intragenic truncation mutant of Hsap\EGFR that shows constitutive kinase activity. This variant is associated with glioblastoma.

(Read et al., 2013)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\EGFR

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 brain glioma

CEA with Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}

(Read et al., 2013)

CEA

(Read et al., 2013)

model of high grade glioma

CEA with Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}

(Formica et al., 2021, Terrasi et al., 2019)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of brain glioma

is ameliorated by RIOK1^GD8541

(Read et al., 2013)

is ameliorated by RIOK2^KK101850

(Read et al., 2013)

is ameliorated by RIOK1^KK100810

(Read et al., 2013)

is ameliorated by RIOK2^GD7407

(Read et al., 2013)

Comments on Models/Modifiers Based on Experimental Evidence ( 0 )

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Read et al., 2013)

EGFR:p.Val30_Arg297delinsGly

(FlyBase curators, 2019-)

Variants Synonym(s)

EGFRvIII

EGFR:exon2-7deletion

de2-7EGFR

Associated human disease model(s)

cancer, malignant glioma, EGFR-related

External database links

Comments concerning this variant

This variant has an in-frame deletion of exons 2-7 from the extracellular domain and is able to transmit growth signaling independent of ligand binding (Rodriguez et al., 2023; pubmed:37446288).

(FlyBase curators, 2019-)

Phenotypic Data

Phenotypic Class

abnormal neuroanatomy | third instar larval stage, with Scer\GAL4^repo.PU

(Chen et al., 2019, Read et al., 2013)

hyperplasia | third instar larval stage, with Scer\GAL4^repo.PU

(Chen et al., 2019)

lethal, with Scer\GAL4^repo.PU

(Read et al., 2013)

Phenotype Manifest In

glial cell | increased number | third instar larval stage, with Scer\GAL4^repo.PU

(Read et al., 2013)

larval brain | third instar larval stage, with Scer\GAL4^repo.PU

(Chen et al., 2019, Read et al., 2013)

larval brain neuropil glial cell | third instar larval stage, with Scer\GAL4^repo.PU

(Chen et al., 2019)

Detailed Description

Statement

Reference

Expressing Hsap\EGFR^Δ.UAS under the control of Scer\GAL4^repo.PU induces glial cell hyperplasia in the third instar larval brain.

(Chen et al., 2019)

Expression of Hsap\EGFR^Δ.Scer\UAS under the control of Scer\GAL4^repo.PU induces glial overgrowth, brain enlargement and lethality in third instar larvae.

(Read et al., 2013)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has hyperplasia | third instar larval stage phenotype, enhanceable by Drak^UAS.cCa, Scer\GAL4^repo.PU

(Chen et al., 2019)

Suppressed by

Statement

Reference

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by RIOK1^GD8541, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has neoplasia | third instar larval stage phenotype, suppressible by RIOK1^GD8541, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by RIOK1^KK100810, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has neoplasia | third instar larval stage phenotype, suppressible by RIOK1^KK100810, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by RIOK2^GD7407, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has neoplasia | third instar larval stage phenotype, suppressible by RIOK2^GD7407, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by RIOK2^KK101850, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has neoplasia | third instar larval stage phenotype, suppressible by RIOK2^KK101850, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by RIOK1^GD8541, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has neoplasia | third instar larval stage phenotype, suppressible by RIOK1^GD8541, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype, suppressible by RIOK2^GD7407, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has neoplasia | third instar larval stage phenotype, suppressible by RIOK2^GD7407, Scer\GAL4^repo.PU

(Read et al., 2013)

Other

Statement

Reference

Drak^UAS.cCa, Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has decreased cell number | third instar larval stage phenotype

(Chen et al., 2019)

Drak^UAS.cCa, Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has neoplasia | third instar larval stage phenotype

(Chen et al., 2019)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK2^GD7407, Scer\GAL4^repo.PU has hypoplasia | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has neoplasia | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK1^GD8541, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK1^GD8541, Scer\GAL4^repo.PU has hypoplasia | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK2^GD7407, Scer\GAL4^repo.PU has abnormal neuroanatomy | third instar larval stage phenotype

(Read et al., 2013)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype, enhanceable by Drak^UAS.cCa, Scer\GAL4^repo.PU

(Chen et al., 2019)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has larval brain neuropil glial cell | third instar larval stage phenotype, enhanceable by Drak^UAS.cCa, Scer\GAL4^repo.PU

(Chen et al., 2019)

Suppressed by

Statement

Reference

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has glial cell | increased number | third instar larval stage phenotype, suppressible by RIOK1^GD8541, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype, suppressible by RIOK1^GD8541, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has glial cell | increased number | third instar larval stage phenotype, suppressible by RIOK1^KK100810, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype, suppressible by RIOK1^KK100810, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has glial cell | increased number | third instar larval stage phenotype, suppressible by RIOK2^GD7407, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype, suppressible by RIOK2^GD7407, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has glial cell | increased number | third instar larval stage phenotype, suppressible by RIOK2^KK101850, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype, suppressible by RIOK2^KK101850, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has glial cell | increased number | third instar larval stage phenotype, suppressible by RIOK2^GD7407, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype, suppressible by RIOK2^GD7407, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has glial cell | increased number | third instar larval stage phenotype, suppressible by RIOK1^GD8541, Scer\GAL4^repo.PU

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype, suppressible by RIOK1^GD8541, Scer\GAL4^repo.PU

(Read et al., 2013)

Other

Statement

Reference

Drak^UAS.cCa, Hsap\EGFR^Δ.UAS, Scer\GAL4^repo.PU has larval neuron | third instar larval stage phenotype

(Chen et al., 2019)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK2^GD7407, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK2^GD7407, Scer\GAL4^repo.PU has glial cell | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK2^GD7407, Scer\GAL4^repo.PU has neuron | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, Pi3K92E^{UAS.Tag:MYC,Tag:PM(hKRAS)}, Scer\GAL4^repo.PU has glial cell | increased number | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK1^GD8541, Scer\GAL4^repo.PU has larval brain | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK1^GD8541, Scer\GAL4^repo.PU has glial cell | third instar larval stage phenotype

(Read et al., 2013)

Hsap\EGFR^Δ.UAS, RIOK1^GD8541, Scer\GAL4^repo.PU has neuron | third instar larval stage phenotype

(Read et al., 2013)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

Co-expressing Drak^UAS.cCa enhances the larval brain glia hyperplasia induced by the expression of Hsap\EGFR^Δ.UAS under the control of Scer\GAL4^repo.PU; glia cells lose the normal stellate shape and form abnormal cellular aggregates that disrupt normal larval brain architecture, indicative of neoplastic transformation; there is also a decrease in the number of neurons.

(Chen et al., 2019)

Expression of Hsap\EGFR^Δ.Scer\UAS and Pi3K92E^{Scer\UAS.T:Hsap\MYC,T:Hsap\CAAX} under the control of Scer\GAL4^repo.PU induces glial overgrowth in third instar larval brains.

Expression of RIOK1^GD8541 suppresses the brain enlargement and glial overgrowth seen when Hsap\EGFR^Δ.Scer\UAS is expressed under the control of Scer\GAL4^repo.PU. There are few excess glia and remaining glial cells show abnormal development. The resulting brains are smaller in size than controls, due to a reduction in both glial and neuronal cells.

Expression of RIOK1^GD8541 suppresses the brain enlargement and glial overgrowth seen when Hsap\EGFR^Δ.Scer\UAS and Pi3K92E^{Scer\UAS.T:Hsap\MYC,T:Hsap\CAAX} are co-expressed under the control of Scer\GAL4^repo.PU.

Expression of RIOK1^KK100810 suppresses the brain enlargement and glial overgrowth seen when Hsap\EGFR^Δ.Scer\UAS is expressed under the control of Scer\GAL4^repo.PU. There are few excess glia and remaining glial cells show abnormal development.

Expression of RIOK2^GD7407 suppresses the brain enlargement and glial overgrowth seen when Hsap\EGFR^Δ.Scer\UAS is expressed under the control of Scer\GAL4^repo.PU. There are few excess glia and remaining glial cells show abnormal development. The resulting brains are smaller in size than controls, due to a reduction in both glial and neuronal cells.

Expression of RIOK2^GD7407 suppresses the brain enlargement and glial overgrowth seen when Hsap\EGFR^Δ.Scer\UAS and Pi3K92E^{Scer\UAS.T:Hsap\MYC,T:Hsap\CAAX} are co-expressed under the control of Scer\GAL4^repo.PU.

Expression of RIOK2^KK101850 suppresses the brain enlargement and glial overgrowth seen when Hsap\EGFR^Δ.Scer\UAS is expressed under the control of Scer\GAL4^repo.PU. There are few excess glia and remaining glial cells show abnormal development.

(Read et al., 2013)

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\EGFR^Δ.Scer\UAS

Hsap\EGFR^Δ.UAS

Name Synonyms

Secondary FlyBase IDs

References (5)

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