ANAPC1

Chr 2AR

anaphase promoting complex subunit 1

Also known as: APC1, MCPR, TSG24

NCBI Gene: 64682ENSG00000153107UniProt: Q9H1A4OMIM: 608473

This gene encodes a subunit of the anaphase-promoting complex. This complex is an E3 ubiquitin ligase that regulates progression through the metaphase to anaphase portion of the cell cycle by ubiquitinating proteins which targets them for degradation. [provided by RefSeq, Dec 2011]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Rothmund-Thomson syndrome, type 1MIM #618625
AR

Clinical highlights

Gene-disease validity (ClinGen)
Rothmund-Thomson syndrome type 1 · ARModerateconsider for supplementary testing
Interpreting a novel variant
Loss of function is the curated mechanism (Gene2Phenotype) and the gene is intolerant of it in the population — truncating, frameshift and canonical splice variants carry more prior weight here than missense.Curated gene-level mechanism — a prior for triage, not a per-variant call.
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.30
LOEUF· LoF intol.
LOF
Mechanism· G2P
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GeneReview available — ANAPC1
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
LoF intolerant — likely haploinsufficient
LoF Constraint?
0.30LOEUF
pLI 0.945
Z-score 6.61
OE 0.20 (0.14–0.30)
Highly constrained

Highly LoF-intolerant (top ~10% of genes)

Missense Constraint?
0.99Z-score
OE missense 0.90 (0.84–0.96)
681 obs / 757.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.20 (0.14–0.30)
0≤0.351.4
Missense OE?0.90 (0.84–0.96)
0≤0.61.4
Synonymous OE?1.03
0≤1.21.6
LoF obs/exp: 16 / 79.7Missense obs/exp: 681 / 757.4Syn Z: -0.34

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ANAPC1 · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients