EEF1G

Chr 11

eukaryotic translation elongation factor 1 gamma

Also known as: EF1G, GIG35

NCBI Gene: 1937 ENSG00000254772 UniProt: P26641

The protein is a subunit of the elongation factor-1 complex that delivers aminoacyl tRNAs to the ribosome during protein synthesis and anchors the complex to other cellular components. Mutations cause autosomal recessive intellectual disability with seizures and macrocephaly, typically presenting in early childhood. This gene is highly constrained against loss-of-function variants, indicating critical importance for normal cellular function.

ResearchSummary from RefSeq, UniProt

This gene encodes a subunit of the elongation factor-1 complex, which is responsible for the enzymatic delivery of aminoacyl tRNAs to the ribosome. This subunit contains an N-terminal glutathione transferase domain, which may be involved in regulating the assembly of multisubunit complexes containing this elongation factor and aminoacyl-tRNA synthetases. [provided by RefSeq, Jul 2008]

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)

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P/LP submissions

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P/LP missense

0.17

LOEUF· LoF intol.

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Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

LoF intolerant — likely haploinsufficient

LoF Constraint?

0.17LOEUF

pLI 1.000

Z-score 4.67

OE 0.04 (0.01–0.17)

Highly constrained

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

Missense Constraint?

2.50Z-score

OE missense 0.56 (0.48–0.64)

141 obs / 252.9 exp

Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?

LoF OE?0.04 (0.01–0.17)

0≤0.351.4

Missense OE?0.56 (0.48–0.64)

0≤0.61.4

Synonymous OE?1.01

0≤1.21.6

LoF obs/exp: 1 / 27.4Missense obs/exp: 141 / 252.9Syn Z: -0.09

Background carrier burden — how many people carry a rare variant somewhere in EEF1G?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 260

344 rare PASS variants

Rare truncating (LoF)

1 in 35,000

19 rare PASS variants

Rare synonymous (reference)

1 in 220

199 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for EEF1G. 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 280	1 in 35,000
South Asian	~43k	1 in 280	≈ 1 in 43,000
Remaining (unassigned)	~30k	1 in 300	none seen
European (Finnish)	~27k	1 in 1,200	≈ 1 in 13,000
Admixed American	~22k	1 in 290	none seen
African / African American	~21k	1 in 160	none seen
East Asian	~20k	1 in 370	≈ 1 in 9,700
Ashkenazi Jewish	~13k	≈ 1 in 13,000	none seen
Middle Eastern	~2,884	1 in 260	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.

Exome coverage (gnomAD): All 10 coding exons well covered in gnomAD exomes and genomes.? see exons ↓