FBXL22

Chr 15

F-box and leucine rich repeat protein 22

Also known as: Fbl22

NCBI Gene: 283807 ENSG00000197361 UniProt: Q6P050

This gene encodes a member of the F-box protein family. This F-box protein interacts with S-phase kinase-associated protein 1A and cullin in order to form SCF complexes which function as ubiquitin ligases.[provided by RefSeq, Sep 2010]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.85

LOEUF

GOF

Mechanism· predicted

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.85LOEUF

pLI 0.001

Z-score -0.07

OE 1.04 (0.49–1.85)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

-0.59Z-score

OE missense 1.14 (1.00–1.29)

164 obs / 144.1 exp

Tolerant

Tolerant to missense variation

Observed / Expected Ratios?

LoF OE?1.04 (0.49–1.85)

0≤0.351.4

Missense OE?1.14 (1.00–1.29)

0≤0.61.4

Synonymous OE?1.11

0≤1.21.6

LoF obs/exp: 4 / 3.8Missense obs/exp: 164 / 144.1Syn Z: -0.69

Background carrier burden — how many people carry a rare variant somewhere in FBXL22?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 73

705 rare PASS variants

Rare truncating (LoF)

1 in 670

100 rare PASS variants

Rare synonymous (reference)

1 in 120

285 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FBXL22. 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 110	1 in 1,100
South Asian	~43k	1 in 59	1 in 690
Remaining (unassigned)	~30k	1 in 65	1 in 970
European (Finnish)	~27k	1 in 220	1 in 430
Admixed American	~22k	1 in 67	1 in 990
African / African American	~21k	1 in 84	1 in 630
East Asian	~20k	1 in 80	1 in 910
Ashkenazi Jewish	~13k	1 in 220	≈ 1 in 3,200
Middle Eastern	~2,884	1 in 62	1 in 560

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): 1 of 2 coding exons well covered in gnomAD exomes; exon 2 marginal. Genomes: all 2.? see exons ↓