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RPL13A

Synonyms
L13A, TSTA1
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 member of the L13P family of ribosomal proteins that is a component of the 60S subunit. The encoded protein also plays a role in the repression of inflammatory genes as a component of the IFN-gamma-activated inhibitor of translation (GAIT) complex. This gene is co-transcribed with the small nucleolar RNA genes U32, U33, U34, and U35, which are located in the second, fourth, fifth, and sixth introns, respectively. As is typical for genes encoding ribosomal proteins, there are multiple processed pseudogenes of this gene dispersed throughout the genome. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene.

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
5
Likely pathogenic
0
VUS
6,371
Likely benign
68
Benign
0

Patient phenotypes

Proportions of phenotypes among 5 patients carring pathogenic or likely pathogenic variants on RPL13A gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the eye
80%
Abnormality of blood and blood-forming tissues
20%
Abnormality of head or neck
20%
Abnormality of limbs
20%
Abnormality of the cardiovascular system
20%
Abnormality of the genitourinary system
20%
Abnormality of the integument
20%
Abnormality of the musculoskeletal system
20%
Abnormality of the respiratory system
20%
Growth abnormality
20%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the breast
0%
Abnormality of the digestive system
0%
Abnormality of the ear
0%
Abnormality of the endocrine system
0%
Abnormality of the immune system
0%
Abnormality of the nervous system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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