FSCN1

Chr 7

fascin actin-bundling protein 1

Also known as: HSN, SNL, p55

NCBI Gene: 6624ENSG00000075618UniProt: Q16658

This gene encodes a member of the fascin family of actin-binding proteins. Fascin proteins organize F-actin into parallel bundles, and are required for the formation of actin-based cellular protrusions. The encoded protein plays a critical role in cell migration, motility, adhesion and cellular interactions. Expression of this gene is known to be regulated by several microRNAs, and overexpression of this gene may play a role in the metastasis of multiple types of cancer by increasing cell motility. Expression of this gene is also a marker for Reed-Sternberg cells in Hodgkin's lymphoma. A pseudogene of this gene is located on the long arm of chromosome 15. [provided by RefSeq, Sep 2011]

121
ClinVar variants
47
Pathogenic / LP
0.87
pLI score
0
Active trials
Clinical Summary— FSCN1
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.87) — some intolerance to loss-of-function variants.
📋
ClinVar Variants
47 Pathogenic / Likely Pathogenic· 72 VUS of 121 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.41LOEUF
pLI 0.869
Z-score 3.17
OE 0.13 (0.05–0.41)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.98Z-score
OE missense 0.69 (0.62–0.77)
224 obs / 324.5 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.13 (0.05–0.41)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.69 (0.62–0.77)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.03
0≤1.21.6
LoF obs/exp: 2 / 15.4Missense obs/exp: 224 / 324.5Syn Z: -0.25

ClinVar Variant Classifications

121 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic38
Likely Pathogenic9
VUS72
Likely Benign2
38
Pathogenic
9
Likely Pathogenic
72
VUS
2
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
38
0
38
Likely Pathogenic
0
0
9
0
9
VUS
0
64
8
0
72
Likely Benign
0
1
0
1
2
Benign
0
0
0
0
0
Total065551121

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

FSCN1 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Targeting Fascin1 maintains chondrocytes phenotype and attenuates osteoarthritis development.
Yang P et al.·Bone Res
2024
Immune checkpoint landscape of human atherosclerosis and influence of cardiometabolic factors.
Barcia Durán JG et al.·Nat Cardiovasc Res
2024
The role and regulatory mechanism of FSCN1 in breast tumorigenesis and progression.
Chang D et al.·Yi Chuan
2023Review
Functional Insights in PLS3-Mediated Osteogenic Regulation.
Zhong W et al.·Cells
2024Functional
FSCN1 has a potential indication for the prognosis and regulates the migration of HNSCC.
Zhang Y et al.·Cancer Biomark
2023
A single-cell characterised signature integrating heterogeneity and microenvironment of lung adenocarcinoma for prognostic stratification.
Xu J et al.·EBioMedicine
2024
ADAM8 silencing suppresses the migration and invasion of fibroblast-like synoviocytes via FSCN1/MAPK cascade in osteoarthritis.
Chen K et al.·Arthritis Res Ther
2024
The FSCN1 gene rs2966447 variant is associated with increased serum fascin-1 levels and breast cancer susceptibility.
Abdullah AR et al.·Gene
2024
Expression of Fascin-1 and its diagnostic value in liver cancer.
Lu SP et al.·Sci Rep
2024
The clinical significance of FSCN1 in non-small cell lung cancer.
Luo A et al.·Biomed Pharmacother
2015
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
FSCN1 induces subchondral bone sclerosis in osteoarthritis via modulating actin cytoskeleton dynamics and YAP signaling.
Xiao Y et al.·Arthritis Res Ther
2026🔓 Open Access
Low YTHDC1 Expression Upregulates FSCN1 to Promote Nuclear F-Actin Formation and Facilitate Double-strand DNA Breaks Repair in TMZ-Resistant Glioblastoma.
Yang M et al.·Adv Sci (Weinh)
2026🔓 Open Access
FSCN1 regulates TGF-β signalling to promote esophageal squamous cell carcinoma metastasis via stabilizing THBS1 mRNA.
Qin D et al.·Commun Biol
2025🔓 Open Access
EXPRESSION OF CONCERN: Long Non-coding RNA Urothelial Cancer-associated 1 Promotes Bladder Cancer Cell Migration and Invasion by Way of the hsa-miR-145-ZEB1/2-FSCN1 Pathway.
·Cancer Sci
2026🔓 Open Access
FSCN1-mediated hepatic gluconeogenesis is indispensable for neonatal mice survival.
Liu X et al.·Acta Biochim Biophys Sin (Shanghai)
2025
Top 5 resultsSearch Europe PMC ↗

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools