EIF4E

Chr 4

eukaryotic translation initiation factor 4E

Also known as: AUTS19, CBP, EIF4E1, EIF4EL1, EIF4F, eIF-4E

NCBI Gene: 1977ENSG00000151247UniProt: P06730OMIM: 133440

The protein encoded by this gene is a component of the eukaryotic translation initiation factor 4F complex, which recognizes the 7-methylguanosine cap structure at the 5' end of messenger RNAs. The encoded protein aids in translation initiation by recruiting ribosomes to the 5'-cap structure. Association of this protein with the 4F complex is the rate-limiting step in translation initiation. This gene acts as a proto-oncogene, and its expression and activation is associated with transformation and tumorigenesis. Several pseudogenes of this gene are found on other chromosomes. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Sep 2015]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

{Autism, susceptibility to, 19}MIM #615091
UniProtAutism 19

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.
1
Active trials
233
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.35
LOEUF
LOF
Mechanism· predicted
📖
GeneReview available — EIF4E
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.35LOEUF
pLI 0.941
Z-score 3.47
OE 0.11 (0.04–0.35)
Highly constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.58Z-score
OE missense 0.37 (0.29–0.47)
48 obs / 131.2 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.11 (0.04–0.35)
0≤0.351.4
Missense OE?0.37 (0.29–0.47)
0≤0.61.4
Synonymous OE?0.88
0≤1.21.6
LoF obs/exp: 2 / 17.8Missense obs/exp: 48 / 131.2Syn Z: 0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

EIF4E · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

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