GPATCH8

Chr 17

G-patch domain containing 8

Also known as: GPATC8, KIAA0553

NCBI Gene: 23131ENSG00000186566UniProt: Q9UKJ3

The protein contains an RNA-processing domain, zinc finger domain, lysine-rich region and serine-rich region involved in RNA processing functions. Mutations in the serine-rich region cause hyperuricemia through a loss-of-function mechanism. The inheritance pattern is not specified in the available data.

Summary from RefSeq, Mechanism
0
Active trials
1
Pubs (1 yr)
11
P/LP submissions
0%
P/LP missense
0.17
LOEUF· LoF intol.
LOF
Mechanism· predicted
Clinical Summary— GPATCH8
⚡
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.
📋
ClinVar Variants
11 unique Pathogenic / Likely Pathogenic· 185 VUS of 212 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint
0.17LOEUF
pLI 1.000
Z-score 6.29
OE 0.07 (0.04–0.17)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.46Z-score
OE missense 0.86 (0.81–0.91)
707 obs / 825.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.07 (0.04–0.17)
0≤0.351.4
Missense OE0.86 (0.81–0.91)
0≤0.61.4
Synonymous OE1.00
0≤1.21.6
LoF obs/exp: 4 / 53.7Missense obs/exp: 707 / 825.2Syn Z: 0.04
DN
0.2798th %ile
GOF
0.3392th %ile
LOF
0.81top 5%

The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).

LOFprediction above median · LOEUF 0.17

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312. Mechanism ranking also informed by gnomAD constraint, ClinVar, and ClinGen data.

ClinVar Variant Classifications

212 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
VUS185
Likely Benign7
Benign2
11
Pathogenic
185
VUS
7
Likely Benign
2
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
0
0
0
VUS
0
185
0
0
185
Likely Benign
0
6
0
1
7
Benign
0
2
0
0
2
Total0193111205

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

GPATCH8 · 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 →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 2 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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