FAM47E-STBD1

Chr 4

FAM47E-STBD1 readthrough

The FAM47E-STBD1 readthrough transcript produces a fusion protein with sequence similarity to FAM47E but a distinct C-terminal region due to frameshifts, though its specific cellular function remains unclear. This gene is not well-constrained against loss-of-function variants and currently lacks established disease associations in pediatric neurology. No clear inheritance pattern or neurological phenotypes have been definitively linked to mutations in this readthrough transcript.

ResearchSummary from RefSeq

This locus represents naturally occurring read-through transcription between the neighboring FAM47E (family with sequence similarity 47, member E) and STBD1 (starch binding domain 1) genes on chromosome 4. The read-through transcript encodes a protein that shares sequence identity with the upstream gene product but its C-terminal region is distinct due to frameshifts relative to the downstream gene. [provided by RefSeq, Jul 2011]

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

0.86

LOEUF

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Mechanism

Some data sources returned errors (1)