Home > Gene Browser > CUX2

CUX2

Synonyms
CDP2, CUTL2, DEE67, EIEE67
External resources
Summary
This gene encodes a protein which contains three CUT domains and a homeodomain; both domains are DNA-binding motifs. A similar gene, whose gene product possesses different DNA-binding activities, is located on chromosome on chromosome 7. Two pseudogenes of this gene have been identified on chromosomes 10 and 4.

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
7
Likely pathogenic
0
VUS
22,583
Likely benign
2,468
Benign
7,791

Patient phenotypes

Proportions of phenotypes among 7 patients carrying pathogenic or likely pathogenic variants on CUX2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the musculoskeletal system
42.9%
Abnormality of limbs
28.6%
Abnormality of the cardiovascular system
28.6%
Abnormality of the nervous system
28.6%
Growth abnormality
28.6%
Abnormal cellular phenotype
14.3%
Abnormality of blood and blood-forming tissues
14.3%
Abnormality of head or neck
14.3%
Abnormality of the ear
14.3%
Abnormality of the immune system
14.3%
Abnormality of the respiratory system
14.3%
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 genitourinary system
0%
Abnormality of the integument
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

Have a question or need assistance? Ask here.

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