SVEP1

Chr 9

sushi, von Willebrand factor type A, EGF and pentraxin domain containing 1

Also known as: C9orf13, CCP22, POLYDOM, SEL-OB, SELOB

The SVEP1 protein enables integrin binding and is required for embryonic lymphatic vascular development, including lymphatic endothelial cell migration and formation of lymphovenous contact sites, while also regulating vascular smooth muscle contraction and platelet activation. Mutations cause autosomal recessive primary lymphedema with additional features including cutis laxa, cardiac septal defects, and intellectual disability. The high pLI score (0.9999) and low LOEUF score (0.254) indicate the gene is highly intolerant to loss-of-function variants, suggesting pathogenicity results from loss of protein function.

OMIMResearchSummary from RefSeq, UniProt
LOEUF 0.25
Clinical SummarySVEP1
Population Constraint (gnomAD)
Highly constrained gene — heterozygous loss-of-function variants are very rare in the population (pLI 1.00). One damaged copy is likely sufficient to cause disease.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

LoF intolerant — likely haploinsufficient
LoF Constraint
0.25LOEUF
pLI 1.000
Z-score 9.42
OE 0.19 (0.140.25)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint
1.88Z-score
OE missense 0.88 (0.840.92)
1668 obs / 1898.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.19 (0.140.25)
00.351.4
Missense OE0.88 (0.840.92)
00.61.4
Synonymous OE0.98
01.21.6
LoF obs/exp: 29 / 155.9Missense obs/exp: 1668 / 1898.4Syn Z: 0.46

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

SVEP1 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC