FOXL3-OT1

Chr 7

FOXL3 overlapping transcript 1

Also known as: WI2-2373I1.2

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]

25
ClinVar variants
16
Pathogenic / LP
pLI score
0
Active trials
Clinical SummaryFOXL3-OT1
📋
ClinVar Variants
16 Pathogenic / Likely Pathogenic· 9 VUS of 25 total submissions
Some data sources returned errors (3)

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

gnomad: Error: Gene not found

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

Constraint data not available from gnomAD.

ClinVar Variant Classifications

25 submitted variants in ClinVar

Classification Summary

Pathogenic16
VUS9
16
Pathogenic
9
VUS

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
16
0
16
Likely Pathogenic
0
0
0
0
0
VUS
0
3
6
0
9
Likely Benign
0
0
0
0
0
Benign
0
0
0
0
0
Total0322025

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

View in ClinVar →

Protein Context — Lollipop Plot

FOXL3-OT1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

OMIM — Genotype-Phenotype

No OMIM entries found.