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ANAPC4

Synonyms
APC4
External resources
Summary
A large protein complex, termed the anaphase-promoting complex (APC), or the cyclosome, promotes metaphase-anaphase transition by ubiquitinating its specific substrates such as mitotic cyclins and anaphase inhibitor, which are subsequently degraded by the 26S proteasome. Biochemical studies have shown that the vertebrate APC contains eight subunits. The composition of the APC is highly conserved in organisms from yeast to humans. The exact function of this gene product is not known. Two transcript variants encoding different isoforms have been found for this gene.

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
7
Likely pathogenic
0
VUS
4,258
Likely benign
36
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on ANAPC4 gene are displayed below.

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

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