FGF14

Chr 13

fibroblast growth factor 14

Also known as: FGF-14, FHF-4, FHF4, NYS4, SCA27, SCA27A, SCA27B

NCBI Gene: 2259ENSG00000102466UniProt: Q92915

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. A mutation in this gene is associated with autosomal dominant cerebral ataxia. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jul 2008]

GeneReviewsResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

UniProtSpinocerebellar ataxia 27A
UniProtSpinocerebellar ataxia 27B, late-onset

Clinical highlights

Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
1
Active trials
95
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.39
LOEUF
LOF
Mechanism· G2P
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GeneReview available — FGF14
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Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.39LOEUF
pLI 0.909
Z-score 2.96
OE 0.08 (0.03–0.39)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
1.76Z-score
OE missense 0.57 (0.47–0.69)
75 obs / 132.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.08 (0.03–0.39)
0≤0.351.4
Missense OE?0.57 (0.47–0.69)
0≤0.61.4
Synonymous OE?0.95
0≤1.21.6
LoF obs/exp: 1 / 12.1Missense obs/exp: 75 / 132.0Syn Z: 0.26

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

FGF14 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients