POLR2J3-UPK3BL2

Chr 7

POLR2J3-UPK3BL2 readthrough

NCBI Gene: 123258399

This locus represents naturally occurring readthrough transcription between the neighboring POLR2J3 (RNA polymerase II subunit J3) and UPK3BL2 (uroplakin 3B like 2) genes on chromosome 7. The readthrough transcript is unlikely to produce a protein product. [provided by RefSeq, Oct 2021]

22
ClinVar variants
5
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— POLR2J3-UPK3BL2
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 14 VUS of 22 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/POLR2J3-UPK3BL2?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

22 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
VUS14
Likely Benign3
5
Pathogenic
14
VUS
3
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
5
0
5
Likely Pathogenic
0
0
0
0
0
VUS
0
14
0
0
14
Likely Benign
0
1
2
0
3
Benign
0
0
0
0
0
Total0157022

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

View in ClinVar →

Protein Context — Lollipop Plot

POLR2J3-UPK3BL2 · 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 POLR2J3-UPK3BL2

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