Home > Gene Browser > STK32C

STK32C

Synonyms
PKE, YANK3
External resources
Summary
The protein encoded by this gene is a member of the serine/threonine protein kinase family. It is thought that this family member is functional in brain due to its high expression levels there. DNA methylation differences have been found in this gene in monozygotic twins that are discordant for adolescent depression. Alternative splicing results in multiple transcript variants.

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
52
Likely pathogenic
3
VUS
6,461
Likely benign
2,231
Benign
0

Patient phenotypes

Proportions of phenotypes among 54 patients carring pathogenic or likely pathogenic variants on STK32C gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.7%
Abnormality of the eye
25.9%
Abnormality of the musculoskeletal system
22.2%
Abnormality of head or neck
16.7%
Abnormality of the integument
16.7%
Abnormality of limbs
14.8%
Abnormality of the digestive system
13%
Abnormality of the ear
13%
Abnormality of the immune system
13%
Abnormality of blood and blood-forming tissues
7.4%
Growth abnormality
7.4%
Abnormality of the cardiovascular system
5.6%
Abnormality of the endocrine system
5.6%
Abnormality of the genitourinary system
5.6%
Abnormality of prenatal development or birth
3.7%
Neoplasm
3.7%
Abnormal cellular phenotype
1.9%
Constitutional symptom
1.9%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes