ZHX1-C8ORF76
Chr 8ZHX1-C8orf76 readthrough
The ZHX1-C8ORF76 fusion protein results from natural read-through transcription between two neighboring genes and contains a distinct N-terminus from ZHX1 combined with C8ORF76 sequence. This gene is extremely tolerant to loss-of-function variants based on population data, and no definitive disease associations have been established for mutations in this fusion transcript. The clinical significance of variants in this read-through gene remains uncertain.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
155 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 | 97 | 1 | 0 | 98 |
Likely Benign | 0 | 1 | 0 | 1 | 2 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 98 | 50 | 1 | 149 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ZHX1-C8ORF76 · 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