EGFL7

Chr 9

EGF like domain multiple 7

Also known as: NEU1, VE-STATIN, ZNEU1

NCBI Gene: 51162ENSG00000172889UniProt: Q9UHF1OMIM: 608582

The protein is secreted by endothelial cells and regulates vascular tubulogenesis by inhibiting smooth muscle cell migration and promoting endothelial cell adhesion and angiogenesis. Based on the provided information, no specific diseases or inheritance patterns associated with EGFL7 mutations have been established. The very low pLI score suggests this gene is tolerant to loss-of-function mutations.

OMIMResearchSummary from RefSeq, UniProt
DNmechanismLOEUF 1.92
Clinical Summary— EGFL7
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
70 unique Pathogenic / Likely Pathogenic· 61 VUS of 159 total submissions
Explore recent and relevant literature in Research Assistant →

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.92LOEUF
pLI 0.000
Z-score -1.81
OE 1.51 (1.07–1.92)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.32Z-score
OE missense 1.07 (0.95–1.21)
180 obs / 168.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.51 (1.07–1.92)
0≤0.351.4
Missense OE1.07 (0.95–1.21)
0≤0.61.4
Synonymous OE1.15
0≤1.21.6
LoF obs/exp: 22 / 14.5Missense obs/exp: 180 / 168.4Syn Z: -0.99
DN
0.6455th %ile
GOF
0.5268th %ile
LOF
0.4430th %ile

The highest-scoring mechanism for this gene is dominant-negative.

DNprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

159 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic67
Likely Pathogenic3
VUS61
Likely Benign6
Benign2
Conflicting3
67
Pathogenic
3
Likely Pathogenic
61
VUS
6
Likely Benign
2
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
67
0
67
Likely Pathogenic
0
0
3
0
3
VUS
0
51
10
0
61
Likely Benign
0
5
0
1
6
Benign
0
0
2
0
2
Conflicting
—3
Total056821142

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

View in ClinVar →

Protein Context — Lollipop Plot

EGFL7 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Key Publications
Landmark & review papers · by relevance
PubMed
Top 5 results · since 2015Search PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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