Home > Gene Browser > CUX1

CUX1

Synonyms
CASP, CDP, CDP/Cut, CDP1, COY1, CUTL1, CUX, Clox, Cux/CDP, GDDI, GOLIM6, Nbla10317, p100, p110, p200, p75
External resources
Summary
The protein encoded by this gene is a member of the homeodomain family of DNA binding proteins. It may regulate gene expression, morphogenesis, and differentiation and it may also play a role in the cell cycle progession. Several alternatively spliced transcript variants encoding different isoforms have been identified.

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
14
Likely pathogenic
0
VUS
3,313
Likely benign
7,413
Benign
3,379

Patient phenotypes

Proportions of phenotypes among 13 patients carrying pathogenic or likely pathogenic variants on CUX1 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the cardiovascular system
30.8%
Abnormality of the ear
15.4%
Abnormality of the immune system
15.4%
Abnormality of the musculoskeletal system
15.4%
Abnormality of the nervous system
15.4%
Abnormal cellular phenotype
7.7%
Abnormality of blood and blood-forming tissues
7.7%
Abnormality of head or neck
7.7%
Abnormality of limbs
7.7%
Abnormality of the genitourinary system
7.7%
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 endocrine system
0%
Abnormality of the eye
0%
Abnormality of the integument
0%
Abnormality of the respiratory 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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