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SCYL1

Synonyms
GKLP, HT019, NKTL, NTKL, P105, SCAR21, TAPK, TEIF, TRAP
External resources
Summary
This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene.

Variant counts

The variants found in rare patients tested by 3billion are classified and counted according to ACMG guidelines. The variants with over 5% variant frequency in population genome databases ( gnomAD, dbSNP, etc) are excluded.

Pathogenic
22
Likely pathogenic
0
VUS
6,581
Likely benign
1,505
Benign
0

Patient phenotypes

Proportions of phenotypes among 22 patients carrying pathogenic or likely pathogenic variants on SCYL1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
40.9%
Abnormality of the musculoskeletal system
18.2%
Abnormality of the cardiovascular system
13.6%
Abnormality of the ear
13.6%
Abnormality of the digestive system
9.1%
Abnormality of the immune system
9.1%
Growth abnormality
9.1%
Abnormal cellular phenotype
4.5%
Abnormality of blood and blood-forming tissues
4.5%
Abnormality of head or neck
4.5%
Abnormality of limbs
4.5%
Abnormality of prenatal development or birth
4.5%
Abnormality of the eye
4.5%
Abnormality of the genitourinary system
4.5%
Abnormality of the integument
4.5%
Abnormality of the respiratory system
4.5%
Neoplasm
4.5%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the endocrine system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%

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