MEGF11

Chr 15

multiple EGF like domains 11

NCBI Gene: 84465 ENSG00000157890 UniProt: A6BM72 OMIM: 612454

Predicted to be an extracellular matrix structural constituent. Predicted to be involved in homotypic cell-cell adhesion; retina layer formation; and substrate adhesion-dependent cell spreading. Predicted to be located in basolateral plasma membrane. Predicted to be active in basement membrane and obsolete extracellular space. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

1.13

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.13LOEUF

pLI 0.000

Z-score 0.75

OE 0.89 (0.71–1.13)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

0.85Z-score

OE missense 0.90 (0.84–0.97)

529 obs / 587.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.89 (0.71–1.13)

0≤0.351.4

Missense OE?0.90 (0.84–0.97)

0≤0.61.4

Synonymous OE?0.85

0≤1.21.6

LoF obs/exp: 49 / 55.0Missense obs/exp: 529 / 587.2Syn Z: 1.81

Background carrier burden — how many people carry a rare variant somewhere in MEGF11?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 34

1,625 rare PASS variants

Rare truncating (LoF)

1 in 290

285 rare PASS variants

Rare synonymous (reference)

1 in 95

570 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for MEGF11. 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 50	1 in 290
South Asian	~43k	1 in 29	1 in 310
Remaining (unassigned)	~30k	1 in 32	1 in 200
European (Finnish)	~27k	1 in 120	1 in 1,300
Admixed American	~22k	1 in 31	1 in 310
African / African American	~21k	1 in 35	1 in 290
East Asian	~20k	1 in 32	1 in 460
Ashkenazi Jewish	~13k	1 in 140	≈ 1 in 4,300
Middle Eastern	~2,884	1 in 29	≈ 1 in 720

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): 23 of 25 coding exons well covered in gnomAD exomes; exons 2, 21 marginal. Genomes: all 25.? see exons ↓