FGF1

Chr 5

fibroblast growth factor 1

Also known as: AFGF, ECGF, ECGF-beta, ECGFA, ECGFB, FGF-1, FGF-alpha, FGFA

NCBI Gene: 2246 ENSG00000113578 UniProt: P05230 OMIM: 131220

The protein is a fibroblast growth factor that regulates cell survival, division, differentiation, migration, and angiogenesis by binding to FGFR1 and integrins to activate downstream signaling cascades. Mutations cause Hartsfield syndrome, an autosomal recessive disorder characterized by holoprosencephaly, ectrodactyly (split hand/foot malformation), intellectual disability, and genitourinary anomalies with onset in the prenatal period. The condition affects multiple organ systems including the central nervous system, limbs, and genitourinary tract.

GeneReviews OMIM ResearchSummary from RefSeq, UniProt

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 functions as a modifier of endothelial cell migration and proliferation, as well as an angiogenic factor. It acts as a mitogen for a variety of mesoderm- and neuroectoderm-derived cells in vitro, thus is thought to be involved in organogenesis. Multiple alternatively spliced variants encoding different isoforms have been described. [provided by RefSeq, Jan 2009]

GeneReviews OMIM ResearchGenerating clinical summary…

Active trials

153

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

GOF

Mechanism· predicted

📖

GeneReview available — FGF1

Authoritative clinical overview · Recommended first read

Open GeneReview ↗

Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in FGF1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 300

190 rare PASS variants

Rare truncating (LoF)

1 in 5,900

25 rare PASS variants

Rare synonymous (reference)

1 in 950

73 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for FGF1. 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 300	1 in 11,000
South Asian	~43k	1 in 220	1 in 7,100
Remaining (unassigned)	~30k	1 in 260	≈ 1 in 15,000
European (Finnish)	~27k	≈ 1 in 13,000	≈ 1 in 13,000
Admixed American	~22k	1 in 480	≈ 1 in 22,000
African / African American	~21k	1 in 200	1 in 2,400
East Asian	~20k	1 in 390	1 in 2,500
Ashkenazi Jewish	~13k	1 in 1,500	none seen
Middle Eastern	~2,884	1 in 480	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): All 3 coding exons well covered in gnomAD exomes and genomes.? see exons ↓