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…

LOEUF 0.86

Clinical Summary— FAM47E-STBD1

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

108 VUS of 118 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.86LOEUF

pLI 0.005

Z-score 1.93

OE 0.44 (0.24–0.86)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.75Z-score

OE missense 0.63 (0.54–0.74)

113 obs / 179.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.44 (0.24–0.86)

0≤0.351.4

Missense OE?0.63 (0.54–0.74)

0≤0.61.4

Synonymous OE?0.89

0≤1.21.6

LoF obs/exp: 6 / 13.7Missense obs/exp: 113 / 179.0Syn Z: 0.77

ClinVar Variant Classifications

118 submitted variants in ClinVar

ClinVar

Classification Summary

VUS108

Likely Benign7

108

VUS

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	108	108
Likely Benign	7	7
Benign	0	0
Total	115	115

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

23 pathogenic / likely-pathogenic (of 27) ClinVar copy-number / structural variants overlap FAM47E-STBD1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →