FlyBase Allele Report: Hsap\NUP160[R1173X.UAS]

General Information

Symbol

Hsap\NUP160^R1173X.UAS

Species

H. sapiens

Name

FlyBase ID

FBal0352676

Feature type

allele

Associated gene

Hsap\NUP160

Associated Insertion(s)

Carried in Construct

P{UAS-hNUP160.R1173X}

Key Links

Transgenic product class

stop_gained

(Zhao et al., 2019)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

stop_gained

(Zhao et al., 2019)

Mutagen

in vitro construct

(Zhao et al., 2019)

Progenitor genotype

Carried in construct

P{UAS-hNUP160.R1173X}

Cytology

Description

UASt regulates expression of a human NUP160 cDNA (encoding the common 1437-amino acid NUP160 isoform (NP_056046.1)) containing a R1173X mutation that is implicated in Nephrotic syndrome.

(Zhao et al., 2019)

Allele components

Component

Use(s)

Regulatory region(s)

UASt

binary expression system - regulatory region

Encoded product / tool

Hsap\NUP160

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.

(Zhao et al., 2019)

NUP160:p.Arg1173Ter

(FlyBase curators, 2019-)

Variants Synonym(s)

Associated human disease model(s)

nephrotic syndrome, type 19

External database links

UniProtKB/Swiss-Prot variant: NUP160_VAR_083006

Comments concerning this variant

Phenotypic Data

Phenotypic Class

Phenotype Manifest In

Detailed Description

Statement

Reference

Expression of Hsap\NUP160^R1173X.UAS under the control of Scer\GAL4^Ugt36A1.PK does not affect larval nephrocyte function.

(Zhao et al., 2019)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

NOT Suppressor of

Statement

Reference

Hsap\NUP160^R1173X.UAS, Scer\GAL4^Ugt36A1.PK is a non-suppressor of decreased cell number | adult stage phenotype of Nup160^RNAi.UAS.cUa, Scer\GAL4^Ugt36A1.PK

(Zhao et al., 2019)

Hsap\NUP160^R1173X.UAS, Scer\GAL4^Ugt36A1.PK is a non-suppressor of abnormal size | larval stage phenotype of Nup160^RNAi.UAS.cUa, Scer\GAL4^Ugt36A1.PK

(Zhao et al., 2019)

Phenotype Manifest In

NOT Suppressor of

Statement

Reference

Hsap\NUP160^R1173X.UAS, Scer\GAL4^Ugt36A1.PK is a non-suppressor of nephrocyte | adult stage phenotype of Nup160^RNAi.UAS.cUa, Scer\GAL4^Ugt36A1.PK

(Zhao et al., 2019)

Hsap\NUP160^R1173X.UAS, Scer\GAL4^Ugt36A1.PK is a non-suppressor of nephrocyte | larval stage phenotype of Nup160^RNAi.UAS.cUa, Scer\GAL4^Ugt36A1.PK

(Zhao et al., 2019)

Hsap\NUP160^R1173X.UAS, Scer\GAL4^Ugt36A1.PK is a non-suppressor of nucleus | larval stage phenotype of Nup160^RNAi.UAS.cUa, Scer\GAL4^Ugt36A1.PK

(Zhao et al., 2019)

Hsap\NUP160^R1173X.UAS, Scer\GAL4^Ugt36A1.PK is a non-suppressor of nuclear pore | larval stage phenotype of Nup160^RNAi.UAS.cUa, Scer\GAL4^Ugt36A1.PK

(Zhao et al., 2019)

Hsap\NUP160^R1173X.UAS, Scer\GAL4^Ugt36A1.PK is a non-suppressor of nuclear lamina | larval stage phenotype of Nup160^RNAi.UAS.cUa, Scer\GAL4^Ugt36A1.PK

(Zhao et al., 2019)

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\NUP160^R1173X.UAS

Name Synonyms

Secondary FlyBase IDs

References (2)

Report Sections

Open Close