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CECR2

Synonyms
-
External resources
Summary
This gene encodes a bromodomain-containing protein that is involved in chromatin remodeling, and may additionally play a role in DNA damage response. The encoded protein functions as part of an ATP-dependent complex that is involved in neurulation. This gene is a candidate gene for Cat Eye Syndrome. 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
114
Likely pathogenic
0
VUS
7,141
Likely benign
1,352
Benign
0

Patient phenotypes

Proportions of phenotypes among 112 patients carring pathogenic or likely pathogenic variants on CECR2 gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
33.9%
Abnormality of the cardiovascular system
22.3%
Abnormality of the musculoskeletal system
22.3%
Abnormality of the ear
17.9%
Abnormality of head or neck
14.3%
Abnormality of the digestive system
8.9%
Abnormality of the eye
8.9%
Abnormality of the genitourinary system
8.9%
Abnormality of limbs
7.1%
Growth abnormality
7.1%
Abnormality of the integument
6.3%
Abnormality of the immune system
4.5%
Abnormality of the respiratory system
4.5%
Abnormality of blood and blood-forming tissues
3.6%
Constitutional symptom
2.7%
Neoplasm
2.7%
Abnormality of prenatal development or birth
1.8%
Abnormality of the endocrine system
1.8%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of the breast
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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