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FOXL3-OT1

Chr 7

FOXL3 overlapping transcript 1

Also known as: WI2-2373I1.2

NCBI Gene: 100288524

FOXL3-OT1 encodes a predicted DNA-binding transcription factor that regulates RNA polymerase II transcription and is involved in anatomical structure morphogenesis and cell differentiation. The clinical significance of mutations in this gene has not been established, as no specific diseases or inheritance patterns have been definitively associated with FOXL3-OT1 variants.

ResearchSummary from RefSeq

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Predicted to be involved in anatomical structure morphogenesis; cell differentiation; and regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical Summary— FOXL3-OT1

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ClinVar Variants

3 VUS of 3 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (2)

ensembl: Error: Ensembl fetch failed: 400 for /lookup/symbol/homo_sapiens/FOXL3-OT1?content-type=application/json&expand=1

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

3 submitted variants in ClinVar

ClinVar

Classification Summary

VUS3

VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Missense + Inframe	Total
Pathogenic	0	0
Likely Pathogenic	0	0
VUS	3	3
Likely Benign	0	0
Benign	0	0
Total	3	3

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

View in ClinVar →

17 pathogenic / likely-pathogenic (of 24) ClinVar copy-number / structural variants overlap FOXL3-OT1 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →