FlyBase Allele Report: Hsap\PABPN1[17ala.Act88F]

General Information

Symbol

Hsap\PABPN1^17ala.Act88F

Species

H. sapiens

Name

FlyBase ID

FBal0304636

Feature type

allele

Associated gene

Hsap\PABPN1

Associated Insertion(s)

Carried in Construct

P{Act88F-PABPN1.17ala}

Also Known As

Act88F-PABPN1-17ala

Key Links

Transgenic product class

short_tandem_repeat_expansion

(Chartier et al., 2015)

Mutagen

in vitro construct

Nature of the Allele

Transgenic product class

short_tandem_repeat_expansion

(Chartier et al., 2015)

Mutagen

in vitro construct

(Chartier et al., 2015)

Progenitor genotype

Carried in construct

P{Act88F-PABPN1.17ala}

Cytology

Description

A 2kb fragment of genomic DNA from Act88F drives expression of an altered form of Hsap\PABPN1 which encodes 17 alanine residues following the initial methionine, instead of the wild-type number of 10.

(Chartier et al., 2015)

Allele components

Component

Use(s)

Regulatory region(s)

Act88F

Encoded product / tool

Hsap\PABPN1

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 oculopharyngeal muscular dystrophy

CEA

(Chartier et al., 2015)

Modifiers Based on Experimental Evidence ( 1 )

Disease

Interaction

References

model of oculopharyngeal muscular dystrophy

is exacerbated by hrg^PAP12

(Chartier et al., 2015)

is exacerbated by hrg^PAP21

(Chartier et al., 2015)

is ameliorated by Pabp2⁵⁵

(Chartier et al., 2015)

is ameliorated by orb^F343

(Chartier et al., 2015)

is ameliorated by pum⁹

(Chartier et al., 2015)

is ameliorated by pum⁰¹⁶⁸⁸

(Chartier et al., 2015)

is ameliorated by smg^PL00423

(Chartier et al., 2015)

is ameliorated by twin^GS8115

(Chartier et al., 2015)

is ameliorated by Pop2^DG14804

(Chartier et al., 2015)

is ameliorated by Rga⁰³⁸³⁴

(Chartier et al., 2015)

is ameliorated by how¹⁸

(Chartier et al., 2015)

is ameliorated by pum³

(Chartier et al., 2015)

is ameliorated by smg¹

(Chartier et al., 2015)

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

Disease-implicated variant(s)

This allele represents a human variant implicated in disease.

(Chartier et al., 2015)

PABPN1:p.Ala2[17]

(FlyBase curators, 2019-)

Variants Synonym(s)

PABPN1:p.Ala2[17Ala]

PABPN1, (GCG)n REPEAT EXPANSION

Associated human disease model(s)

oculopharyngeal muscular dystrophy

External database links

ClinVar: PABPN1 _503634

Comments concerning this variant

Phenotypic Data

Phenotypic Class

visible

(Chartier et al., 2015)

Phenotype Manifest In

wing

(Chartier et al., 2015)

Detailed Description

Statement

Reference

40-50% of flies expressing Hsap\PABPN1^17ala.Act88F show abnormal wing posture.

(Chartier et al., 2015)

External Data

Linkouts

Interactions

Show genetic interaction network for Enhancers & Suppressors

Phenotypic Class

Enhanced by

Statement

Reference

Hsap\PABPN1^17ala.Act88F has visible phenotype, enhanceable by hrg^PAP12/hrg[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, enhanceable by hrg^PAP21/hrg[+]

(Chartier et al., 2015)

NOT Enhanced by

Statement

Reference

Hsap\PABPN1^17ala.Act88F has visible phenotype, non-enhanceable by wisp^KG05287/wisp[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, non-enhanceable by bic[+]/bic¹

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, non-enhanceable by pum^Msc/pum[+]

(Chartier et al., 2015)

Suppressed by

Statement

Reference

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by twin[+]/twin^GS8115

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by Pop2[+]/Pop2^DG14804

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by Rga[+]/Rga⁰³⁸³⁴

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by Pabp2[+]/Pabp2⁵⁵

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by how[+]/how¹⁸

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by orb^F343/orb[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by pum³/pum[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by pum⁹/pum[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by pum⁰¹⁶⁸⁸/pum[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by smg[+]/smg¹

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, suppressible by smg[+]/smg^PL00423

(Chartier et al., 2015)

NOT suppressed by

Statement

Reference

Hsap\PABPN1^17ala.Act88F has visible phenotype, non-suppressible by wisp^KG05287/wisp[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, non-suppressible by bic[+]/bic¹

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has visible phenotype, non-suppressible by pum^Msc/pum[+]

(Chartier et al., 2015)

Phenotype Manifest In

Enhanced by

Statement

Reference

Hsap\PABPN1^17ala.Act88F has wing phenotype, enhanceable by hrg^PAP12/hrg[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, enhanceable by hrg^PAP21/hrg[+]

(Chartier et al., 2015)

NOT Enhanced by

Statement

Reference

Hsap\PABPN1^17ala.Act88F has wing phenotype, non-enhanceable by wisp^KG05287/wisp[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, non-enhanceable by bic[+]/bic¹

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, non-enhanceable by pum^Msc/pum[+]

(Chartier et al., 2015)

Suppressed by

Statement

Reference

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by how[+]/how¹⁸

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by orb^F343/orb[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by pum³/pum[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by pum⁹/pum[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by pum⁰¹⁶⁸⁸/pum[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by smg[+]/smg¹

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by smg[+]/smg^PL00423

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by twin[+]/twin^GS8115

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by Pop2[+]/Pop2^DG14804

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by Rga[+]/Rga⁰³⁸³⁴

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, suppressible by Pabp2[+]/Pabp2⁵⁵

(Chartier et al., 2015)

NOT suppressed by

Statement

Reference

Hsap\PABPN1^17ala.Act88F has wing phenotype, non-suppressible by wisp^KG05287/wisp[+]

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, non-suppressible by bic[+]/bic¹

(Chartier et al., 2015)

Hsap\PABPN1^17ala.Act88F has wing phenotype, non-suppressible by pum^Msc/pum[+]

(Chartier et al., 2015)

Additional Comments

Genetic Interactions

Statement

Reference

Xenogenetic Interactions

Statement

Reference

twin^GS8115 suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

Pop2^DG14804 suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

Rga⁰³⁸³⁴ suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

Pabp2⁵⁵ suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

how¹⁸ suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

orb^F343 suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

pum³ suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

pum⁹ suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

pum⁰¹⁶⁸⁸ suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

smg¹ suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

smg^PL00423 suppresses the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

hrg^PAP12 enhances the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

hrg^PAP21 enhances the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

wisp^KG05287 does not alter the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

bic¹ does not alter the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

pum^Msc does not alter the wing posture defects seen upon expression of Hsap\PABPN1^17ala.Act88F.

(Chartier et al., 2015)

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\PABPN1^17ala.Act88F

Name Synonyms

Secondary FlyBase IDs

References (3)

Report Sections

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