POLR2J2-UPK3BL1

Chr 7

POLR2J2-UPK3BL1 readthrough

NCBI Gene: 123258400ENSG00000267645

This locus represents naturally occurring readthrough transcription between the neighboring POLR2J2 (RNA polymerase II subunit J2) and UPK3BL1 (uroplakin 3B like 1) genes on chromosome 7. The readthrough transcript is unlikely to produce a protein product. [provided by RefSeq, Oct 2021]

52
ClinVar variants
5
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— POLR2J2-UPK3BL1
📋
ClinVar Variants
5 Pathogenic / Likely Pathogenic· 36 VUS of 52 total submissions
Some data sources returned errors (2)

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

52 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic5
VUS36
Likely Benign11
5
Pathogenic
36
VUS
11
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
36
0
0
36
Likely Benign
0
7
2
2
11
Benign
0
0
0
0
0
Total0437252

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

View in ClinVar →

Protein Context — Lollipop Plot

POLR2J2-UPK3BL1 · 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 POLR2J2-UPK3BL1

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