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ONECUT2

Synonyms
OC-2, OC2
External resources
Summary
This gene encodes a member of the onecut family of transcription factors, which are characterized by a cut domain and an atypical homeodomain. The protein binds to specific DNA sequences and stimulates expression of target genes, including genes involved in melanocyte and hepatocyte differentiation.

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
3
Likely pathogenic
0
VUS
1,558
Likely benign
636
Benign
0

Patient phenotypes

Proportions of phenotypes among 3 patients carrying pathogenic or likely pathogenic variants on ONECUT2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of blood and blood-forming tissues
33.3%
Abnormality of the cardiovascular system
33.3%
Abnormality of the eye
33.3%
Abnormality of the immune system
33.3%
Abnormality of the respiratory system
33.3%
Abnormal cellular phenotype
0%
Abnormality of head or neck
0%
Abnormality of limbs
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 genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the musculoskeletal system
0%
Abnormality of the nervous system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Growth abnormality
0%
Neoplasm
0%

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