DNAJC25-GNG10

Chr 9

DNAJC25-GNG10 readthrough

This gene produces a fusion protein combining the N-terminus of DNAJC25 (a co-chaperone involved in protein folding) with the C-terminus of GNG10 (a G-protein gamma subunit involved in signal transduction). The very low pLI score (0.001) and high LOEUF score (1.865) indicate that loss-of-function variants are well-tolerated in this gene. No specific neurogenetic diseases have been definitively associated with mutations in this fusion gene.

ResearchSummary from RefSeq
LOEUF 1.86
Clinical SummaryDNAJC25-GNG10
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
32 unique Pathogenic / Likely Pathogenic· 25 VUS of 59 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.86LOEUF
pLI 0.001
Z-score -0.15
OE 1.08 (0.511.86)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.90Z-score
OE missense 0.64 (0.480.86)
32 obs / 49.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE1.08 (0.511.86)
00.351.4
Missense OE0.64 (0.480.86)
00.61.4
Synonymous OE0.82
01.21.6
LoF obs/exp: 4 / 3.7Missense obs/exp: 32 / 49.9Syn Z: 0.67

ClinVar Variant Classifications

59 submitted variants in ClinVar

Classification Summary

Pathogenic28
Likely Pathogenic4
VUS25
Likely Benign1
28
Pathogenic
4
Likely Pathogenic
25
VUS
1
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
28
0
28
Likely Pathogenic
0
0
4
0
4
VUS
0
22
3
0
25
Likely Benign
0
1
0
0
1
Benign
0
0
0
0
0
Total02335058

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

View in ClinVar →

Protein Context — Lollipop Plot

DNAJC25-GNG10 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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