PRICKLE4

Chr 6

prickle planar cell polarity protein 4

Also known as: C6orf49, OBTP, OEBT

NCBI Gene: 29964ENSG00000278224UniProt: Q2TBC4

C6ORF49 is a member of the LIM domain protein family (Teufel et al., 2005 [PubMed 15702247]).[supplied by OMIM, Mar 2008]

ResearchGenerating clinical summary…
0
Active trials
5
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.07
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.07LOEUF
pLI 0.000
Z-score 1.36
OE 0.62 (0.37–1.07)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.40Z-score
OE missense 0.93 (0.82–1.04)
207 obs / 223.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.62 (0.37–1.07)
0≤0.351.4
Missense OE?0.93 (0.82–1.04)
0≤0.61.4
Synonymous OE?0.93
0≤1.21.6
LoF obs/exp: 9 / 14.6Missense obs/exp: 207 / 223.8Syn Z: 0.51

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

PRICKLE4 · 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