P3R3URF-PIK3R3

Chr 1

P3R3URF-PIK3R3 readthrough

Also known as: LOC110117498-PIK3R3

NCBI Gene: 110117499ENSG00000278139

This locus represents naturally occurring readthrough transcription between the neighboring genes LOC110117498 and PIK3R3. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Apr 2017]

66
ClinVar variants
1
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— P3R3URF-PIK3R3
📋
ClinVar Variants
1 Pathogenic / Likely Pathogenic· 51 VUS of 66 total submissions
Some data sources returned errors (2)

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

66 submitted variants in ClinVar

ClinVar

Classification Summary

Likely Pathogenic1
VUS51
Likely Benign3
1
Likely Pathogenic
51
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
0
0
0
Likely Pathogenic
0
0
1
0
1
VUS
0
49
2
0
51
Likely Benign
1
0
1
1
3
Benign
0
0
0
0
0
Total1494155

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

P3R3URF-PIK3R3 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

Clinical Literature
Landmark / reviewRecent case evidence

No publications found for P3R3URF-PIK3R3

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools