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CCNI

Synonyms
CCNI1, CYC1, CYI
External resources
Summary
The protein encoded by this gene belongs to the highly conserved cyclin family, whose members are characterized by a dramatic periodicity in protein abundance through the cell cycle. Cyclins function as regulators of CDK kinases. Different cyclins exhibit distinct expression and degradation patterns which contribute to the temporal coordination of each mitotic event. This cyclin shows the highest similarity with cyclin G. The transcript of this gene was found to be expressed constantly during cell cycle progression.

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
12
Likely pathogenic
6
VUS
5,503
Likely benign
464
Benign
0

Patient phenotypes

Proportions of phenotypes among 18 patients carring pathogenic or likely pathogenic variants on CCNI gene are displayed below.

Phenotype class
Patients in 3billion (%)
Abnormality of the nervous system
66.7%
Abnormality of the eye
38.9%
Abnormality of the musculoskeletal system
38.9%
Abnormality of the ear
33.3%
Abnormality of head or neck
27.8%
Abnormality of the digestive system
27.8%
Abnormality of the genitourinary system
22.2%
Abnormality of the integument
22.2%
Abnormality of limbs
11.1%
Abnormality of the endocrine system
11.1%
Abnormality of the immune system
11.1%
Growth abnormality
11.1%
Neoplasm
11.1%
Abnormal cellular phenotype
5.6%
Abnormality of the breast
5.6%
Abnormality of the cardiovascular system
5.6%
Abnormality of the respiratory system
5.6%
Constitutional symptom
5.6%
Abnormality of blood and blood-forming tissues
0%
Abnormality of metabolism homeostasis
0%
Abnormality of prenatal development or birth
0%
Abnormality of the thoracic cavity
0%
Abnormality of the voice
0%

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