RIPPLY1

Chr X

ripply transcriptional repressor 1

NCBI Gene: 92129ENSG00000147223UniProt: Q0D2K3OMIM: 300575

This gene encodes a protein similar to a zebrafish protein which acts as a transcriptional repressor in and is required for somite segmentation in zebrafish embryos (PMID: 16326386). Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Aug 2011]

OMIMResearchGenerating clinical summary…
0
Active trials
3
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.77
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.77LOEUF
pLI 0.009
Z-score 0.31
OE 0.82 (0.37–1.77)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.11Z-score
OE missense 0.96 (0.76–1.21)
49 obs / 51.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.82 (0.37–1.77)
0≤0.351.4
Missense OE?0.96 (0.76–1.21)
0≤0.61.4
Synonymous OE?1.01
0≤1.21.6
LoF obs/exp: 3 / 3.6Missense obs/exp: 49 / 51.3Syn Z: -0.04

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RIPPLY1 · 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