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RPS8

Synonyms
S8
External resources
Summary
Ribosomes, the organelles that catalyze protein synthesis, consist of a small 40S subunit and a large 60S subunit. Together these subunits are composed of 4 RNA species and approximately 80 structurally distinct proteins. This gene encodes a ribosomal protein that is a component of the 40S subunit. The protein belongs to the S8E family of ribosomal proteins. It is located in the cytoplasm. Increased expression of this gene in colorectal tumors and colon polyps compared to matched normal colonic mucosa has been observed. This gene is co-transcribed with the small nucleolar RNA genes U38A, U38B, U39, and U40, which are located in its fourth, fifth, first, and second introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed through the genome.

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
9
Likely pathogenic
0
VUS
1,103
Likely benign
61
Benign
0

Patient Phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on RPS8 gene are displayed below. The following symptoms were found in patients with a variant in RPS8. However, patients may have been diagnosed with a different variant.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
77.8%
Abnormality of the musculoskeletal system
66.7%
Abnormality of head or neck
55.6%
Abnormality of limbs
22.2%
Abnormality of the digestive system
22.2%
Abnormality of the eye
22.2%
Abnormality of the genitourinary system
22.2%
Abnormality of the integument
22.2%
Abnormality of the ear
11.1%
Growth abnormality
11.1%
Abnormal cellular phenotype
0%
Abnormality of blood and blood forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the cardiovascular system
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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