ZHX1-C8ORF76

Chr 8

ZHX1-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.

ResearchSummary from RefSeq
LOEUF 1.51
Clinical SummaryZHX1-C8ORF76
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
1.51LOEUF
pLI 0.000
Z-score 0.10
OE 0.97 (0.641.51)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
0.04Z-score
OE missense 0.99 (0.861.14)
143 obs / 144.3 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.97 (0.641.51)
00.351.4
Missense OE0.99 (0.861.14)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 14 / 14.4Missense obs/exp: 143 / 144.3Syn Z: 0.14

ClinVar Variant Classifications

0 submitted variants 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

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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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found