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RPS6KA1

Synonyms
HU-1, MAPKAPK1, MAPKAPK1A, RSK, RSK1, p90Rsk
External resources
Summary
This gene encodes a member of the RSK (ribosomal S6 kinase) family of serine/threonine kinases. This kinase contains 2 nonidentical kinase catalytic domains and phosphorylates various substrates, including members of the mitogen-activated kinase (MAPK) signalling pathway. The activity of this protein has been implicated in controlling cell growth and differentiation. Alternate transcriptional splice variants, encoding different isoforms, have been characterized.

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
29
Likely pathogenic
0
VUS
5,544
Likely benign
75
Benign
0

Patient phenotypes

Proportions of phenotypes among 29 patients carring pathogenic or likely pathogenic variants on RPS6KA1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of head or neck
55.2%
Abnormality of the nervous system
51.7%
Abnormality of the musculoskeletal system
44.8%
Abnormality of the cardiovascular system
37.9%
Abnormality of the integument
34.5%
Abnormality of the eye
27.6%
Abnormality of the digestive system
24.1%
Growth abnormality
20.7%
Abnormality of limbs
17.2%
Abnormality of the respiratory system
17.2%
Abnormality of the ear
13.8%
Abnormality of the immune system
13.8%
Abnormality of blood and blood-forming tissues
10.3%
Abnormality of the endocrine system
10.3%
Abnormality of the genitourinary system
6.9%
Abnormality of prenatal development or birth
3.4%
Abnormality of the breast
3.4%
Abnormality of the voice
3.4%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the thoracic cavity
0%
Constitutional symptom
0%
Neoplasm
0%

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