FlyBase Allele Report: Hsap\EXOSC2[UAS.cYa]

General Information

Symbol

Hsap\EXOSC2^UAS.cYa

Species

H. sapiens

Name

UAS construct a of Yang

FlyBase ID

FBal0359874

Feature type

allele

Associated gene

Hsap\EXOSC2

Associated Insertion(s)

Carried in Construct

PBac{UAS-hEXOSC2.Y}

Key Links

Transgenic product class

cDNA

(Yang et al., 2020)

wild_type

(Yang et al., 2020)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

cDNA

(Yang et al., 2020)

wild_type

(Yang et al., 2020)

Mutagen

in vitro construct

(Yang et al., 2020)

Progenitor genotype

Carried in construct

PBac{UAS-hEXOSC2.Y}

Cytology

Description

UAS regulatory sequences drive expression of a full-length, wild-type Hsap\EXOSC2 cDNA.

(Yang et al., 2020)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\EXOSC2

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 short stature, hearing loss, retinitis pigmentosa, and distinctive facies

CEC

(Yang et al., 2020)

CEA

(Yang et al., 2020)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates short stature, hearing loss, retinitis pigmentosa, and distinctive facies

modeled by Rrp4^KK108526

(Yang et al., 2020)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

decreased size | adult stage, with Scer\GAL4^ey.PU

(Yang et al., 2020)

viable, with Scer\GAL4^ey.PU

(Yang et al., 2020)

visible | adult stage, with Scer\GAL4^ey.PU

(Yang et al., 2020)

Phenotype Manifest In

eye, with Scer\GAL4^ey.PU

(Yang et al., 2020)

Detailed Description

Statement

Reference

Adults expressing Hsap\EXOSC2^UAS.cYa under the control of Scer\GAL4^ey.PU show a rough and small eye, with extra appendages.

(Yang et al., 2020)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Hsap\EXOSC2^UAS.cYa, Scer\GAL4^ey.PU is a suppressor | partially of decreased size | adult stage phenotype of Rrp4^KK108526, Scer\GAL4^ey.PU

(Yang et al., 2020)

Hsap\EXOSC2^UAS.cYa, Scer\GAL4^ey.PU is a suppressor | partially of visible | adult stage phenotype of Rrp4^KK108526, Scer\GAL4^ey.PU

(Yang et al., 2020)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\EXOSC2^UAS.cYa, Scer\GAL4^ey.PU is a suppressor | partially of eye phenotype of Rrp4^KK108526, Scer\GAL4^ey.PU

(Yang et al., 2020)

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\EXOSC2^UAS.cYa

Name Synonyms

UAS construct a of Yang

Secondary FlyBase IDs

References (1)

Report Sections

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