FlyBase Allele Report: Hsap\VPS13A[UAS.1A]

General Information

Symbol

Hsap\VPS13A^UAS.1A

Species

H. sapiens

Name

FlyBase ID

FBal0325622

Feature type

allele

Associated gene

Hsap\VPS13A

Associated Insertion(s)

Carried in Construct

P{UAS-hVPS13A.1A}

Also Known As

UAS-hVPS13A

Key Links

Transgenic product class

cDNA

(Vonk et al., 2017)

wild_type

(Vonk et al., 2017)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

cDNA

(Vonk et al., 2017)

wild_type

(Vonk et al., 2017)

Mutagen

in vitro construct

(Vonk et al., 2017)

Progenitor genotype

Carried in construct

P{UAS-hVPS13A.1A}

Cytology

Description

UASt regulatory sequences drive expression of a full-length cDNA of transcript variant 1A of Hsap\VPS13A.

(Vonk et al., 2017)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\VPS13A

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 ( 0 )

Disease

Evidence

References

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

ameliorates choreaacanthocytosis

modeled by Vps13^c03628

(Yeshaw et al., 2019, Vonk et al., 2017)

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

Disease-implicated variant(s)

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Suppressor of

Statement

Reference

Scer\GAL4^Act5C.PI/Hsap\VPS13A^UAS.1A is a suppressor | partially of partially lethal | recessive | heat sensitive phenotype of Vps13^c03628

(Vonk et al., 2017)

Scer\GAL4^Act5C.PI/Hsap\VPS13A^UAS.1A is a suppressor | partially of short lived phenotype of Vps13^c03628

(Vonk et al., 2017)

Phenotype Manifest In

Suppressor of

Statement

Reference

Scer\GAL4^Act5C.PI/Hsap\VPS13A^UAS.1A is a suppressor | partially of egg chamber phenotype of Vps13^c03628

(Faber et al., 2020)

Scer\GAL4^Act5C.PI/Hsap\VPS13A^UAS.1A is a suppressor | partially of nurse cell phenotype of Vps13^c03628

(Faber et al., 2020)

Scer\GAL4^Act5C.PI/Hsap\VPS13A^UAS.1A is a suppressor | partially of nucleus | ectopic | female phenotype of Vps13^c03628

(Faber et al., 2020)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

The decreased lifespan and the partial lethality observed in Vps13^c03628 homozygotes reared at 25[o]C is partially suppressed by the expression of Hsap\VPS13A^Scer\UAS.1A under the control of Scer\GAL4^Act5C.PI.

(Vonk et al., 2017)

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\VPS13A^Scer\UAS.1A

Hsap\VPS13A^UAS.1A

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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