FGFR1OP2

Chr 12

FGFR1 oncogene partner 2

Also known as: HSPC123-like, WIT3.0

NCBI Gene: 26127 ENSG00000111790 UniProt: Q9NVK5 OMIM: 608858

The protein is predicted to function in wound healing pathways through identical protein binding activity. Mutations in this gene have not been definitively associated with human disease based on the available data. This gene is not highly constrained against loss-of-function variants, suggesting tolerance to protein disruption.

OMIM ResearchSummary from RefSeq, UniProt

Predicted to enable identical protein binding activity. Predicted to be involved in response to wounding. Predicted to act upstream of or within wound healing. Predicted to be located in cytosol. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Active trials

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Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.87

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.87LOEUF

pLI 0.000

Z-score 1.95

OE 0.48 (0.28–0.87)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.04Z-score

OE missense 0.75 (0.65–0.89)

108 obs / 143.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.48 (0.28–0.87)

0≤0.351.4

Missense OE?0.75 (0.65–0.89)

0≤0.61.4

Synonymous OE?0.96

0≤1.21.6

LoF obs/exp: 8 / 16.6Missense obs/exp: 108 / 143.1Syn Z: 0.20

Background carrier burden — how many people carry a rare variant somewhere in FGFR1OP2?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 300

273 rare PASS variants

Rare truncating (LoF)

1 in 5,500

39 rare PASS variants

Rare synonymous (reference)

1 in 660

111 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FGFR1OP2. 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 360	1 in 6,300
South Asian	~43k	1 in 200	1 in 4,300
Remaining (unassigned)	~30k	1 in 290	≈ 1 in 7,400
European (Finnish)	~27k	1 in 1,300	1 in 4,400
Admixed American	~22k	1 in 400	1 in 1,000
African / African American	~21k	1 in 360	≈ 1 in 17,000
East Asian	~20k	1 in 190	≈ 1 in 6,600
Ashkenazi Jewish	~13k	≈ 1 in 13,000	≈ 1 in 13,000
Middle Eastern	~2,883	1 in 360	≈ 1 in 2,900

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): 5 of 6 coding exons well covered in gnomAD exomes; exon 3 marginal. Genomes: all 6.? see exons ↓