PCNX2

Chr 1

pecanex 2

Also known as: PCNXL2

NCBI Gene: 80003ENSG00000135749UniProt: A6NKB5OMIM: 617656

This gene contains coding mononucleotide repeats that are associated with tumors of high mcrosatellite instability (MSI-H). Defects in this gene are involved in the tumorigenesis of MSI-H colorectal carcinomas. [provided by RefSeq, Jun 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.68
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.68LOEUF
pLI 0.000
Z-score 4.23
OE 0.54 (0.43–0.68)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.21Z-score
OE missense 0.90 (0.86–0.95)
1065 obs / 1181.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.54 (0.43–0.68)
0≤0.351.4
Missense OE?0.90 (0.86–0.95)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 54 / 99.5Missense obs/exp: 1065 / 1181.7Syn Z: -0.09

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PCNX2 · protein map & ClinVar variants

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

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

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients