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EIF3J

Synonyms
EIF3S1, eIF3-alpha, eIF3-p35
External resources
Summary
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.

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
181
Likely pathogenic
0
VUS
2,381
Likely benign
147
Benign
0

Patient phenotypes

Proportions of phenotypes among 180 patients carring pathogenic or likely pathogenic variants on EIF3J gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
38.9%
Abnormality of the musculoskeletal system
28.9%
Abnormality of the eye
27.8%
Abnormality of the ear
20.6%
Abnormality of head or neck
16.7%
Abnormality of the cardiovascular system
12.8%
Growth abnormality
11.1%
Abnormality of limbs
7.8%
Abnormality of the digestive system
6.7%
Abnormality of the immune system
6.7%
Abnormality of the integument
6.7%
Abnormality of blood and blood-forming tissues
5.6%
Abnormality of the genitourinary system
5.6%
Abnormality of prenatal development or birth
3.9%
Abnormality of the respiratory system
3.3%
Abnormality of the breast
1.7%
Abnormality of the endocrine system
1.7%
Neoplasm
1.7%
Constitutional symptom
0.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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