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SETDB2

Synonyms
C13orf4, CLLD8, CLLL8, KMT1F
External resources
Summary
This gene encodes a member of a family of proteins that contain a methyl-CpG-binding domain (MBD) and a SET domain and function as histone methyltransferases. This protein is recruited to heterochromatin and plays a role in the regulation of chromosome segregation. This region is commonly deleted in chronic lymphocytic leukemia. Naturally-occuring readthrough transcription occurs from this gene to the downstream PHF11 (PHD finger protein 11) gene. 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
17
Likely pathogenic
1
VUS
4,075
Likely benign
412
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on SETDB2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
27.8%
Abnormality of the cardiovascular system
22.2%
Abnormality of the eye
22.2%
Abnormality of head or neck
16.7%
Abnormality of the ear
16.7%
Abnormality of the genitourinary system
16.7%
Abnormality of the immune system
16.7%
Abnormality of the integument
16.7%
Abnormality of the musculoskeletal system
16.7%
Abnormality of blood and blood-forming tissues
11.1%
Growth abnormality
11.1%
Abnormality of limbs
5.6%
Abnormality of prenatal development or birth
5.6%
Abnormality of the breast
5.6%
Abnormality of the respiratory system
5.6%
Neoplasm
5.6%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the digestive system
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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