P2RX5-TAX1BP3

Chr 17

P2RX5-TAX1BP3 readthrough (NMD candidate)

NCBI Gene: 100533970ENSG00000257950

This locus represents naturally occurring read-through transcription between the neighboring P2RX5 (purinergic receptor P2X, ligand-gated ion channel, 5) and TAX1BP3 (Tax1 binding protein 3) genes on chromosome 17. The read-through transcript is a candidate for nonsense-mediated mRNA decay (NMD), and is thus unlikely to produce a protein product. [provided by RefSeq, Mar 2011]

171
ClinVar variants
14
Pathogenic / LP
—
pLI score
0
Active trials
Clinical Summary— P2RX5-TAX1BP3
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 134 VUS of 171 total submissions

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

171 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic14
VUS134
Likely Benign9
Benign11
Conflicting3
14
Pathogenic
134
VUS
9
Likely Benign
11
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
14
0
14
Likely Pathogenic
0
0
0
0
0
VUS
0
117
17
0
134
Likely Benign
0
3
4
2
9
Benign
1
1
6
3
11
Conflicting
—3
Total1121415171

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

View in ClinVar →

Protein Context — Lollipop Plot

P2RX5-TAX1BP3 · 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 P2RX5-TAX1BP3

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