FlyBase Allele Report: Hsap\HSPA9[R126W.UAS.cZa]

General Information

Symbol

Hsap\HSPA9^{R126W.UAS.cZa}

Species

H. sapiens

Name

FlyBase ID

FBal0374151

Feature type

allele

Associated gene

Hsap\HSPA9

Associated Insertion(s)

Carried in Construct

P{UAS-hHSPA9.R126W.Z}

Key Links

Transgenic product class

missense_variant

(Zhu et al., 2021)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

missense_variant

(Zhu et al., 2021)

Mutagen

in vitro construct

(Zhu et al., 2021)

Progenitor genotype

Carried in construct

P{UAS-hHSPA9.R126W.Z}

Cytology

Description

UASt regulatory sequences drive expression of Hsap\HSPA9 carrying a R126W amino acid substitution (rare variant identified in patients with Parkinson disease).

(Zhu et al., 2021)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\HSPA9

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 Parkinson's disease

CEA

(Zhu et al., 2021)

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.

(Zhu et al., 2021)

HSPA9:p.Arg126Trp

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

Parkinson-like disease (postulated), HSPA9-related

External database links

ClinVar: 224328

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Suppressor of

Statement

Reference

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of lethal - all die before end of pupal stage phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of abnormal locomotor behavior | third instar larval stage phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of abnormal locomotor behavior | adult stage phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of visible | adult stage phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of abnormal heat stress response | adult stage phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of paralytic | adult stage | heat sensitive phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

Phenotype Manifest In

NOT Suppressor of

Statement

Reference

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of embryonic/larval neuromuscular junction | third instar larval stage phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of mitochondrion | third instar larval stage phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

Hsap\HSPA9^{R126W.UAS.cZa}, Scer\GAL4^elav.PU is a non-suppressor of wing phenotype of Hsc70-5^KK100233, Scer\GAL4^elav.PU

(Zhu et al., 2021)

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

Hsap\HSPA9^{R126W.UAS.cZa}

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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