FAM47E-STBD1
Chr 4FAM47E-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.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Typical tolerance to LoF variation
Mild missense constraint
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
FAM47E-STBD1 · 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