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EIF4E

Synonyms
AUTS19, CBP, EIF4E1, EIF4EL1, EIF4F, eIF-4E
External resources
Summary
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.

Variant Counts

Variant classification counts, according to ACMG guideline on all identified variants among our tested samples, are listed. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc.) are excluded.

Pathogenic
0
Likely pathogenic
0
VUS
251
Likely benign
3,593
Benign
748

Patient Phenotypes

No patients carry pathogenic or likely pathogenic variants on EIF4E gene.

Phenotype class
Patients in 3billion (%)

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