FlyBase Allele Report: Hsap\SMARCA5[del268-319.UAS]

General Information

Symbol

Hsap\SMARCA5^{del268-319.UAS}

Species

H. sapiens

Name

FlyBase ID

FBal0367297

Feature type

allele

Associated gene

Hsap\SMARCA5

Associated Insertion(s)

Carried in Construct

P{UAS-hSMARCA5.del268-319}

Key Links

Transgenic product class

inframe_deletion

(Gong et al., 2021)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

inframe_deletion

(Gong et al., 2021)

Mutagen

in vitro construct

(Gong et al., 2021)

Progenitor genotype

Carried in construct

P{UAS-hSMARCA5.del268-319}

Cytology

Description

UAS regulatory sequences drive expression of Hsap\SMARCA5 that has been mutated to carry the del268-319 variant. This variant has previously been identified in an individual with a neurodevelopmental disorder.

(Gong et al., 2021)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\SMARCA5

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 ( 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.

(Gong et al., 2021)

SMARCA5:p.Ala268_Lys319del

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

neurodevelopmental syndrome with mild facial dysmorphia, SMARCA5-related

External database links

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

Suppressor of

Statement

Reference

Hsap\SMARCA5^{del268-319.UAS}, Scer\GAL4^elav.PU is a suppressor | partially of decreased sleep | adult stage phenotype of Iswi^HMS00628, Scer\GAL4^elav.PU

(Gong et al., 2021)

Scer\GAL4^Act5C.PU/Hsap\SMARCA5^{del268-319.UAS} is a suppressor | partially of decreased body size | third instar larval stage phenotype of Iswi²

(Li et al., 2021)

Scer\GAL4^elav.PU/Hsap\SMARCA5^{del268-319.UAS} is a suppressor | partially of visible | third instar larval stage phenotype of Iswi²

(Li et al., 2021)

NOT Suppressor of

Statement

Reference

Scer\GAL4^Act5C.PU/Hsap\SMARCA5^{del268-319.UAS} is a non-suppressor of abnormal neuroanatomy | third instar larval stage phenotype of Iswi²

(Li et al., 2021)

Scer\GAL4^Act5C.PU/Hsap\SMARCA5^{del268-319.UAS} is a non-suppressor of decreased occurrence of cell division | third instar larval stage phenotype of Iswi²

(Li et al., 2021)

Hsap\SMARCA5^{del268-319.UAS}, Scer\GAL4^elav.PU is a non-suppressor of abnormal neuroanatomy | adult stage phenotype of Iswi^HMS00628, Scer\GAL4^elav.PU

(Li et al., 2021)

Hsap\SMARCA5^{del268-319.UAS}, Scer\GAL4^elav.PU is a non-suppressor of decreased size | adult stage phenotype of Iswi^HMS00628, Scer\GAL4^elav.PU

(Li et al., 2021)

Hsap\SMARCA5^{del268-319.UAS}, Scer\GAL4^elav.PU is a non-suppressor of abnormal locomotor behavior | adult stage phenotype of Iswi^HMS00628, Scer\GAL4^elav.PU

(Li et al., 2021)

Phenotype Manifest In

Suppressor of

Statement

Reference

Scer\GAL4^Act5C.PU/Hsap\SMARCA5^{del268-319.UAS} is a suppressor | partially of larval brain | third instar larval stage phenotype of Iswi²

(Li et al., 2021)

NOT Suppressor of

Statement

Reference

Scer\GAL4^Act5C.PU/Hsap\SMARCA5^{del268-319.UAS} is a non-suppressor of larval dorsal multidendritic neuron ddaC | third instar larval stage phenotype of Iswi²

(Li et al., 2021)

Scer\GAL4^Act5C.PU/Hsap\SMARCA5^{del268-319.UAS} is a non-suppressor of larval ventral multidendritic neuron vdaA | third instar larval stage phenotype of Iswi²

(Li et al., 2021)

Scer\GAL4^Act5C.PU/Hsap\SMARCA5^{del268-319.UAS} is a non-suppressor of dendrite | third instar larval stage phenotype of Iswi²

(Li et al., 2021)

Hsap\SMARCA5^{del268-319.UAS}, Scer\GAL4^elav.PU is a non-suppressor of medial lobe of adult mushroom body phenotype of Iswi^HMS00628, Scer\GAL4^elav.PU

(Li et al., 2021)

Hsap\SMARCA5^{del268-319.UAS}, Scer\GAL4^elav.PU is a non-suppressor of mushroom body vertical lobe | adult stage phenotype of Iswi^HMS00628, Scer\GAL4^elav.PU

(Li 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\SMARCA5^{del268-319.UAS}

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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