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CNPY3-GNMT

Chr 6

CNPY3-GNMT readthrough

The readthrough transcript between CNPY3 and GNMT genes may produce a fusion protein with amino acid sequences similar to both canopy FGF signaling regulator 3 and glycine N-methyltransferase. No established disease associations have been reported for mutations in this readthrough transcript locus.

ResearchSummary from RefSeq
Clinical SummaryCNPY3-GNMT
📋
ClinVar Variants
14 unique Pathogenic / Likely Pathogenic· 139 VUS of 227 total submissions
Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for https://rest.ensembl.org/lookup/symbol/homo_sapiens/CNPY3-GNMT?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

227 submitted variants in ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic4
VUS139
Likely Benign42
Benign19
Conflicting3
10
Pathogenic
4
Likely Pathogenic
139
VUS
42
Likely Benign
19
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
3
3
4
0
10
Likely Pathogenic
4
0
0
0
4
VUS
7
128
3
1
139
Likely Benign
0
6
12
24
42
Benign
0
2
13
4
19
Conflicting
3
Total141393229217

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

View in ClinVar →

Protein Context — Lollipop Plot

CNPY3-GNMT · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →