CNPY1

Chr 7

canopy FGF signaling regulator 1

Cnpy1 is expressed in the midbrain-hindbrain (MHB) boundary in zebrafish, binds FGFR1 (MIM 136350), and plays a role in FGF signaling (Hirate and Okamoto, 2006 [PubMed 16488878]).[supplied by OMIM, Dec 2008]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
P/LP submissions
P/LP missense
1.93
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.93LOEUF
pLI 0.000
Z-score -0.89
OE 1.47 (0.741.93)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.04Z-score
OE missense 1.01 (0.801.30)
46 obs / 45.3 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.47 (0.741.93)
00.351.4
Missense OE?1.01 (0.801.30)
00.61.4
Synonymous OE?0.63
01.21.6
LoF obs/exp: 6 / 4.1Missense obs/exp: 46 / 45.3Syn Z: 1.16

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

CNPY1 · 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

No active trials found for this gene.

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