CNPY3-GNMT

Chr 6

CNPY3-GNMT readthrough

This locus represents naturally occurring readthrough transcription between the upstream CNPY3 (canopy FGF signaling regulator 3) and the downstream GNMT (glycine N-methyltransferase) genes. Readthrough transcripts may encode proteins that have amino acid similarity with proteins encoded by both individual genes. [provided by RefSeq, Jan 2016]

214
ClinVar variants
14
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryCNPY3-GNMT
📋
ClinVar Variants
14 Pathogenic / Likely Pathogenic· 137 VUS of 214 total submissions
Some data sources returned errors (3)

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

clinvar: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi

gnomad: Error: Gene not found

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

214 submitted variants in ClinVar

Classification Summary

Pathogenic10
Likely Pathogenic4
VUS137
Likely Benign41
Benign19
Conflicting3
10
Pathogenic
4
Likely Pathogenic
137
VUS
41
Likely Benign
19
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
2
3
5
0
10
Likely Pathogenic
2
0
2
0
4
VUS
5
124
7
1
137
Likely Benign
0
4
13
24
41
Benign
0
1
14
4
19
Conflicting
3
Total91324129214

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.

OMIM — Genotype-Phenotype

No OMIM entries found.