EFNA4-EFNA3

Chr 1

EFNA4-EFNA3 readthrough

NCBI Gene: 125467750 ENSG00000251246 OMIM: 601380

This locus represents naturally occurring readthrough transcription between the neighboring EFNA4 (ephrin A4) and EFNA3 (ephrin A3) genes on chromosome 1. The readthrough transcript encodes a fusion protein that shares sequence identity with each individual gene product. [provided by RefSeq, Jun 2022]

OMIM Research

OMIM ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

—

LOEUF

—

Mechanism

Some data sources returned errors (1)

gnomad: Error: Gene not found

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in EFNA4-EFNA3?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 350

333 rare PASS variants

Rare truncating (LoF)

1 in 3,700

33 rare PASS variants

Rare synonymous (reference)

1 in 450

162 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for EFNA4-EFNA3. 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 420	1 in 8,900
South Asian	~43k	1 in 290	1 in 2,200
Remaining (unassigned)	~30k	1 in 220	1 in 670
European (Finnish)	~27k	1 in 620	≈ 1 in 23,000
Admixed American	~22k	1 in 190	≈ 1 in 17,000
African / African American	~21k	1 in 330	≈ 1 in 4,400
East Asian	~20k	1 in 220	≈ 1 in 18,000
Ashkenazi Jewish	~13k	1 in 1,100	none seen
Middle Eastern	~2,884	1 in 310	none seen

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.