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CIDEC

Synonyms
CIDE-3, CIDE3, FPLD5, FSP27
External resources
Summary
This gene encodes a member of the cell death-inducing DNA fragmentation factor-like effector family. Members of this family play important roles in apoptosis. The encoded protein promotes lipid droplet formation in adipocytes and may mediate adipocyte apoptosis. This gene is regulated by insulin and its expression is positively correlated with insulin sensitivity. Mutations in this gene may contribute to insulin resistant diabetes. A pseudogene of this gene is located on the short arm of chromosome 3. Alternatively spliced transcript variants that encode different isoforms have been observed for this gene.

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
6
Likely pathogenic
3
VUS
1,469
Likely benign
1,034
Benign
0

Patient phenotypes

Proportions of phenotypes among 9 patients carrying pathogenic or likely pathogenic variants on CIDEC gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
55.6%
Abnormality of the eye
44.4%
Abnormality of head or neck
33.3%
Abnormality of the integument
33.3%
Growth abnormality
33.3%
Abnormality of the musculoskeletal system
22.2%
Abnormality of blood and blood-forming tissues
11.1%
Abnormality of limbs
11.1%
Abnormality of the breast
11.1%
Abnormality of the cardiovascular system
11.1%
Abnormality of the digestive system
11.1%
Abnormality of the ear
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the genitourinary system
11.1%
Abnormal cellular phenotype
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the immune system
0%
Abnormality of the respiratory system
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%
Constitutional symptom
0%
Neoplasm
0%

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