CCDC169-SOHLH2
Chr 13CCDC169-SOHLH2 readthrough
Also known as: C13orf38-SOHLH2
This gene encodes a fusion protein containing sequences from both C13orf38 and SOHLH2 that arises from natural read-through transcription between these neighboring genes. The gene is highly constrained against loss-of-function variants (pLI = 0.001, LOEUF = 0.61), suggesting it plays an important biological role. No specific disease associations or inheritance patterns have been established for mutations in this fusion gene.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
111 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 | 49 | 0 | 49 |
Likely Pathogenic | 0 | 0 | 0 | 0 | 0 |
VUS | 0 | 43 | 2 | 0 | 45 |
Likely Benign | 0 | 7 | 2 | 4 | 13 |
Benign | 0 | 1 | 0 | 2 | 3 |
| Total | 0 | 51 | 53 | 6 | 110 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
CCDC169-SOHLH2 · 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 →No open access results found
External Resources
Links to major genomics databases and tools