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EIF4G1

Synonyms
EIF-4G1, EIF4F, EIF4G, EIF4GI, P220, PARK18
External resources
Summary
The protein encoded by this gene is a component of the multi-subunit protein complex EIF4F. This complex facilitates the recruitment of mRNA to the ribosome, which is a rate-limiting step during the initiation phase of protein synthesis. The recognition of the mRNA cap and the ATP-dependent unwinding of 5'-terminal secondary structure is catalyzed by factors in this complex. The subunit encoded by this gene is a large scaffolding protein that contains binding sites for other members of the EIF4F complex. A domain at its N-terminus can also interact with the poly(A)-binding protein, which may mediate the circularization of mRNA during translation. Alternative splicing results in multiple transcript variants, some of which are derived from alternative promoter usage.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
3,484
Likely pathogenic
2
VUS
18,340
Likely benign
4,373
Benign
4,642

Patient phenotypes

Proportions of phenotypes among 3332 patients carrying pathogenic or likely pathogenic variants on EIF4G1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
41.1%
Abnormality of the musculoskeletal system
28.8%
Abnormality of the cardiovascular system
25.9%
Abnormality of head or neck
23.1%
Abnormality of the eye
22.2%
Abnormality of the integument
13.5%
Growth abnormality
13.5%
Abnormality of limbs
13.3%
Abnormality of the ear
12.6%
Abnormality of the genitourinary system
12%
Abnormality of the digestive system
9.2%
Abnormality of the immune system
7.2%
Abnormality of blood and blood-forming tissues
4.8%
Abnormality of the respiratory system
4.5%
Abnormality of the endocrine system
4.4%
Neoplasm
3.8%
Abnormality of prenatal development or birth
2.7%
Constitutional symptom
1.1%
Abnormality of the breast
1.1%
Abnormal cellular phenotype
0.9%
Abnormality of the voice
0.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%

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