Home > Gene Browser > ANAPC5

ANAPC5

Synonyms
APC5
External resources
Summary
This gene encodes a tetratricopeptide repeat-containing component of the anaphase promoting complex/cyclosome (APC/C), a large E3 ubiquitin ligase that controls cell cycle progression by targeting a number of cell cycle regulators such as B-type cyclins for 26S proteasome-mediated degradation through ubiquitination. The encoded protein is required for the proper ubiquitination function of APC/C and for the interaction of APC/C with transcription coactivators. It also interacts with polyA binding protein and represses internal ribosome entry site-mediated translation. Multiple transcript variants encoding different isoforms have been found for this gene. These differences cause translation initiation at a downstream AUG and result in a shorter protein (isoform b), compared to isoform a.

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
1
VUS
3,011
Likely benign
251
Benign
0

Patient phenotypes

Proportions of phenotypes among 7 patients carring pathogenic or likely pathogenic variants on ANAPC5 gene are displayed below.

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

Have a question or need assistance? Ask here.

Send us your questions or comments related to the variant counts and/or patient phenotypes