ANAPC15

Chr 11

anaphase promoting complex subunit 15

Also known as: APC15, C11orf51, HSPC020

NCBI Gene: 25906 ENSG00000110200 UniProt: P60006 OMIM: 614717

ANAPC15 encodes a component of the anaphase promoting complex/cyclosome (APC/C), an E3 ubiquitin ligase that controls cell cycle progression through mitosis and G1 phase by promoting turnover of CDC20 and release of the mitotic checkpoint complex. No disease associations have been established for pathogenic variants in this gene based on the provided information. The gene shows moderate tolerance to loss-of-function variants with a LOEUF score of 0.775.

OMIM ResearchSummary from RefSeq, UniProt

Involved in anaphase-promoting complex-dependent catabolic process; protein polyubiquitination; and regulation of mitotic cell cycle spindle assembly checkpoint. Part of anaphase-promoting complex. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.78

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.78LOEUF

pLI 0.296

Z-score 1.99

OE 0.25 (0.10–0.78)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.22Z-score

OE missense 0.58 (0.45–0.76)

39 obs / 67.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.25 (0.10–0.78)

0≤0.351.4

Missense OE?0.58 (0.45–0.76)

0≤0.61.4

Synonymous OE?0.83

0≤1.21.6

LoF obs/exp: 2 / 8.1Missense obs/exp: 39 / 67.2Syn Z: 0.66

Background carrier burden — how many people carry a rare variant somewhere in ANAPC15?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 460

188 rare PASS variants

Rare truncating (LoF)

1 in 3,900

44 rare PASS variants

Rare synonymous (reference)

1 in 770

79 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ANAPC15. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 560	1 in 3,900
South Asian	~43k	1 in 350	1 in 1,100
Remaining (unassigned)	~30k	1 in 170	≈ 1 in 10,000
European (Finnish)	~27k	1 in 790	≈ 1 in 13,000
Admixed American	~22k	1 in 310	1 in 4,000
African / African American	~21k	1 in 400	none seen
East Asian	~20k	1 in 320	1 in 3,300
Ashkenazi Jewish	~13k	1 in 330	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 490	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.