FGF7

Chr 15

fibroblast growth factor 7

Also known as: HBGF-7, KGF

NCBI Gene: 2252 ENSG00000140285 UniProt: P21781 OMIM: 148180

The protein encoded by this gene is a member of the fibroblast growth factor (FGF) family. FGF family members possess broad mitogenic and cell survival activities, and are involved in a variety of biological processes, including embryonic development, cell growth, morphogenesis, tissue repair, tumor growth and invasion. This protein is a potent epithelial cell-specific growth factor, whose mitogenic activity is predominantly exhibited in keratinocytes but not in fibroblasts and endothelial cells. Studies of mouse and rat homologs of this gene implicated roles in morphogenesis of epithelium, reepithelialization of wounds, hair development and early lung organogenesis. [provided by RefSeq, Jul 2008]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.51

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.51LOEUF

pLI 0.771

Z-score 2.51

OE 0.11 (0.04–0.51)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.49Z-score

OE missense 0.57 (0.46–0.71)

54 obs / 94.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.11 (0.04–0.51)

0≤0.351.4

Missense OE?0.57 (0.46–0.71)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 1 / 9.2Missense obs/exp: 54 / 94.9Syn Z: 0.08

Background carrier burden — how many people carry a rare variant somewhere in FGF7?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 1,400

152 rare PASS variants

Rare truncating (LoF)

1 in 16,000

15 rare PASS variants

Rare synonymous (reference)

1 in 1,300

69 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FGF7. 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 1,500	1 in 24,000
South Asian	~43k	1 in 1,200	none seen
Remaining (unassigned)	~30k	1 in 1,500	1 in 5,000
European (Finnish)	~27k	1 in 2,300	none seen
Admixed American	~22k	1 in 2,100	≈ 1 in 11,000
African / African American	~21k	1 in 600	≈ 1 in 9,200
East Asian	~20k	1 in 730	≈ 1 in 6,600
Ashkenazi Jewish	~13k	≈ 1 in 6,000	none seen
Middle Eastern	~2,884	≈ 1 in 1,200	none seen

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 3 coding exons well covered in gnomAD exomes; exons 3, 4 marginal. Genomes: all 3.? see exons ↓