EIF3J

Chr 15

eukaryotic translation initiation factor 3 subunit J

Also known as: EIF3S1, eIF3-alpha, eIF3-p35

NCBI Gene: 8669 ENSG00000104131 UniProt: O75822

This gene encodes a core subunit of the eukaryotic initiation factor 3 complex, which participates in the initiation of translation by aiding in the recruitment of protein and mRNA components to the 40S ribosome. There are pseudogenes for this gene on chromosomes 1, 3, and 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Sep 2013]

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.42LOEUF

pLI 0.857

Z-score 3.13

OE 0.13 (0.05–0.42)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.21Z-score

OE missense 0.70 (0.59–0.84)

91 obs / 129.6 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.13 (0.05–0.42)

0≤0.351.4

Missense OE?0.70 (0.59–0.84)

0≤0.61.4

Synonymous OE?0.72

0≤1.21.6

LoF obs/exp: 2 / 15.1Missense obs/exp: 91 / 129.6Syn Z: 1.55

Background carrier burden — how many people carry a rare variant somewhere in EIF3J?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 320

254 rare PASS variants

Rare truncating (LoF)

1 in 1,400

43 rare PASS variants

Rare synonymous (reference)

1 in 840

107 rare PASS variants

Rare missense and truncating variants are carried at similar rates in EIF3J; this gene does not show strong loss-of-function constraint by this measure. 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 330	1 in 1,500
South Asian	~43k	1 in 350	1 in 1,400
Remaining (unassigned)	~30k	1 in 240	1 in 2,100
European (Finnish)	~27k	1 in 720	1 in 1,500
Admixed American	~22k	1 in 270	1 in 660
African / African American	~21k	1 in 260	1 in 700
East Asian	~20k	1 in 250	1 in 1,100
Ashkenazi Jewish	~13k	1 in 380	1 in 1,200
Middle Eastern	~2,882	1 in 390	≈ 1 in 1,400

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): 6 of 8 coding exons well covered in gnomAD exomes; exons 4, 6 marginal. Genomes: all 8.? see exons ↓