ZHX1-C8ORF76

Chr 8

ZHX1-C8orf76 readthrough

NCBI Gene: 100533106 ENSG00000259305 UniProt: Q96EF9

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

This locus represents naturally occurring read-through transcription between the neighboring zinc fingers and homeoboxes 1 (ZHX1) and chromosome 8 open reading frame 76 (C8orf76) genes. The read-through transcript encodes a protein that shares sequence identity with the downstream gene, but it has a distinct N-terminus encoded by exon structure from the upstream gene. [provided by RefSeq, Feb 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

1.51

LOEUF

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Mechanism

Some data sources returned errors (1)