GPKOW
Chr XG-patch domain and KOW motifs
Also known as: GPATC5, GPATCH5, Mos2, Spp2, T54
The protein is an RNA-binding component of the minor spliceosome that splices U12-type introns in pre-mRNAs and interacts with protein kinases A and X. Mutations cause X-linked intellectual disability with microcephaly and seizures. This gene is highly constrained against loss-of-function variants, indicating that such mutations are likely pathogenic.
Moderate evidence — consider for supplementary testing
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly LoF-intolerant (top ~10% of genes)
Mild missense constraint
The highest-scoring mechanism for this gene is loss-of-function (haploinsufficiency).
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
203 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 57 | 0 | 57 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 1 | 55 | 9 | 1 | 66 |
Likely Benign | 0 | 5 | 1 | 2 | 8 |
Benign | 0 | 1 | 2 | 2 | 5 |
Conflicting | — | 1 | |||
| Total | 1 | 61 | 71 | 5 | 139 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
GPKOW · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools