Home > Gene Browser > CIDEC
CIDEC
- Synonyms
- CIDE-3, CIDE3, FPLD5, FSP27
- External resources
- NCBI63924
- OMIM612120
- EnsemblENSG00000187288
- HGNCHGNC:24229
- 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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