FOXR1

Chr 11

forkhead box R1

Also known as: DLNB13, FOXN5

NCBI Gene: 283150 ENSG00000176302 UniProt: Q6PIV2 OMIM: 615755

This gene encodes a member of the forkhead box (FOX) family of transcription factors. FOX family members are monomeric, helix-turn-helix proteins with a core DNA-binding domain of approximately 110 aa. Many FOX transcription factors play roles in determining cell fates during early development. This forkhead box protein lacks the C-terminal basic region found in many other FOX family members. It is located within the 11q23.3 region which is commonly deleted in neuroblastomas. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.18

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.18LOEUF

pLI 0.000

Z-score 1.04

OE 0.71 (0.45–1.18)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.16Z-score

OE missense 0.97 (0.85–1.10)

167 obs / 172.8 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.71 (0.45–1.18)

0≤0.351.4

Missense OE?0.97 (0.85–1.10)

0≤0.61.4

Synonymous OE?0.79

0≤1.21.6

LoF obs/exp: 11 / 15.4Missense obs/exp: 167 / 172.8Syn Z: 1.31

Background carrier burden — how many people carry a rare variant somewhere in FOXR1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 110

407 rare PASS variants

Rare truncating (LoF)

1 in 1,500

88 rare PASS variants

Rare synonymous (reference)

1 in 280

151 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FOXR1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 200	1 in 1,300
South Asian	~43k	1 in 130	1 in 2,500
Remaining (unassigned)	~30k	1 in 110	1 in 3,300
European (Finnish)	~27k	1 in 290	1 in 2,000
Admixed American	~22k	1 in 140	1 in 1,600
African / African American	~21k	1 in 180	1 in 2,200
East Asian	~20k	1 in 200	1 in 2,400
Ashkenazi Jewish	~13k	1 in 690	none seen
Middle Eastern	~2,884	1 in 260	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓