GPATCH4

Chr 1

G-patch domain containing 4 (gene/pseudogene)

Also known as: GPATC4

NCBI Gene: 54865ENSG00000160818UniProt: Q5T3I0

Enables RNA binding activity. Predicted to act upstream of or within hematopoietic progenitor cell differentiation. Located in nucleolus and nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…
0
Active trials
4
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.24
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.24LOEUF
pLI 0.000
Z-score 0.98
OE 0.69 (0.40–1.24)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.70Z-score
OE missense 0.86 (0.76–0.98)
169 obs / 196.8 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.69 (0.40–1.24)
0≤0.351.4
Missense OE?0.86 (0.76–0.98)
0≤0.61.4
Synonymous OE?0.74
0≤1.21.6
LoF obs/exp: 8 / 11.6Missense obs/exp: 169 / 196.8Syn Z: 1.68

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

GPATCH4 · 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