FlyBase Allele Report: Hsap\SUPT16H[G808R.UAS]

General Information

Symbol

Hsap\SUPT16H^G808R.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0388813

Feature type

allele

Associated gene

Hsap\SUPT16H

Associated Insertion(s)

Carried in Construct

PBac{UAS-hSUPT16H.G808R}

Key Links

Transgenic product class

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

Mutagen

in vitro construct

(Ma et al., 2023)

Progenitor genotype

Carried in construct

PBac{UAS-hSUPT16H.G808R}

Cytology

Description

UAS regulates expression of Hsap\SUPT16H containing the G808R variant that is found in probands exhibiting global developmental delay, intellectual disability, epilepsy, facial dysmorphism and brain structural abnormalities.

(Ma et al., 2023)

Allele components

Component

Use(s)

Regulatory region(s)

UAS

binary expression system - regulatory region

Encoded product / tool

Hsap\SUPT16H

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 neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

CEC

(Ma et al., 2023)

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.

(Ma et al., 2023)

SUPT16H:p.Gly808Arg

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

neurodevelopmental disorder with dysmorphic facies and thin corpus callosum

External database links

Comments concerning this variant

Phenotypic Data

Phenotypic Class

viable, with Scer\GAL4^Act5C.PI

(Ma et al., 2023)

viable, with Scer\GAL4^da.G32

(Ma et al., 2023)

viable, with Scer\GAL4^αTub84B.PL

(Ma et al., 2023)

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\SUPT16H^G808R.UAS, Scer\GAL4^ey.PH is a suppressor | partially of visible | adult stage phenotype of Scer\GAL4^ey.PH, dre4^GL00017

(Ma et al., 2023)

Hsap\SUPT16H^G808R.UAS, Scer\GAL4^nub.PK is a suppressor | partially of visible | adult stage phenotype of Scer\GAL4^nub.PK, dre4^GL00017

(Ma et al., 2023)

Hsap\SUPT16H^G808R.UAS, Scer\GAL4^Act5C.PP is a suppressor | partially of decreased cell size | somatic clone | larval stage phenotype of Scer\GAL4^Act5C.PP, dre4^GL00017

(Ma et al., 2023)

Hsap\SUPT16H^G808R.UAS, Scer\GAL4^elav.PLu is a suppressor | partially of short lived phenotype of Scer\GAL4^elav.PLu, dre4^HMS01332

(Ma et al., 2023)

NOT Suppressor of

Statement

Reference

Hsap\SUPT16H^G808R.UAS, Scer\GAL4^repo is a non-suppressor of lethal - all die during P-stage phenotype of Scer\GAL4^repo, dre4^GL00017

(Ma et al., 2023)

Phenotype Manifest In

Suppressor of

Statement

Reference

Hsap\SUPT16H^G808R.UAS, Scer\GAL4^ey.PH is a suppressor | partially of adult head | absent phenotype of Scer\GAL4^ey.PH, dre4^GL00017

(Ma et al., 2023)

Hsap\SUPT16H^G808R.UAS, Scer\GAL4^nub.PK is a suppressor | partially of wing | absent phenotype of Scer\GAL4^nub.PK, dre4^GL00017

(Ma et al., 2023)

Hsap\SUPT16H^G808R.UAS, Scer\GAL4^Act5C.PP is a suppressor | partially of larval fat cell of larval fat body phenotype of Scer\GAL4^Act5C.PP, dre4^GL00017

(Ma et al., 2023)

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\SUPT16H^G808R.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

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