GeneBe

ANAPC5

anaphase promoting complex subunit 5, the group of Anaphase promoting complex

Basic information

Region (hg38): 12:121308245-121399896

Links

ENSG00000089053 ∙ NCBI:51433 ∙ OMIM:606948 ∙ HGNC:15713 ∙ Uniprot:Q9UJX4 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

  • schizophrenia (No Known Disease Relationship), mode of inheritance: Unknown

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANAPC5 gene.

  • not_specified (40 variants)
  • not_provided (3 variants)
  • ANAPC5-related_disorder (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANAPC5 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000016237.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

EffectPLPVUSLBBSum
synonymous
1
clinvar
 1
missense
38
clinvar
3
clinvar
 41
nonsense
0
start loss
0
frameshift
0
splice donor/acceptor (+/-2bp)
1
clinvar
 1
Total 0 0 39 4 0
Loading clinvar variants...

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
ANAPC5protein_codingprotein_codingENST00000261819 1791652
pLI Probability
LOF Intolerant 		pRec Probability
LOF Recessive 		Individuals with
no LOFs 		Individuals with
Homozygous LOFs 		Individuals with
Heterozygous LOFs 		Defined p
1.65e-90.9981256620861257480.000342
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense2.302914240.6860.00002344966
Missense in Polyphen81132.090.61321493
Synonymous0.3091691740.9700.00001061429
Loss of Function2.792140.10.5240.00000188483

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0003660.000365
Ashkenazi Jewish0.0007110.000695
East Asian0.0004400.000435
Finnish0.0005080.000508
European (Non-Finnish)0.0003350.000334
Middle Eastern0.0004400.000435
South Asian0.0003990.000392
Other0.0001640.000163

dbNSFP

Source: dbNSFP

Function
FUNCTION: Component of the anaphase promoting complex/cyclosome (APC/C), a cell cycle-regulated E3 ubiquitin ligase that controls progression through mitosis and the G1 phase of the cell cycle. The APC/C complex acts by mediating ubiquitination and subsequent degradation of target proteins: it mainly mediates the formation of 'Lys-11'-linked polyubiquitin chains and, to a lower extent, the formation of 'Lys-48'- and 'Lys-63'-linked polyubiquitin chains. {ECO:0000269|PubMed:18485873}.;
Pathway
Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);IL-17 signaling pathway - Homo sapiens (human);Progesterone-mediated oocyte maturation - Homo sapiens (human);Senescence-Associated Secretory Phenotype (SASP);Cellular Senescence;Cellular responses to stress;Inactivation of APC/C via direct inhibition of the APC/C complex;Inhibition of the proteolytic activity of APC/C required for the onset of anaphase by mitotic spindle checkpoint components;Mitotic Spindle Checkpoint;Cell Cycle Checkpoints;Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;DNA Replication;Switching of origins to a post-replicative state;Class I MHC mediated antigen processing & presentation;Synthesis of DNA;S Phase;Cellular responses to external stimuli;TGF_beta_Receptor;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Regulation of APC/C activators between G1/S and early anaphase;Phosphorylation of the APC/C;CDK-mediated phosphorylation and removal of Cdc6;Cdc20:Phospho-APC/C mediated degradation of Cyclin A;APC-Cdc20 mediated degradation of Nek2A;APC:Cdc20 mediated degradation of cell cycle proteins prior to satisfation of the cell cycle checkpoint;APC/C:Cdc20 mediated degradation of Cyclin B;APC/C:Cdc20 mediated degradation of Securin;APC/C:Cdc20 mediated degradation of mitotic proteins;Activation of APC/C and APC/C:Cdc20 mediated degradation of mitotic proteins;Conversion from APC/C:Cdc20 to APC/C:Cdh1 in late anaphase;APC/C:Cdh1 mediated degradation of Cdc20 and other APC/C:Cdh1 targeted proteins in late mitosis/early G1;Autodegradation of Cdh1 by Cdh1:APC/C;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Cell Cycle, Mitotic (Consensus)

Intolerance Scores

loftool
0.342
rvis_EVS
-0.55
rvis_percentile_EVS
19.8

Haploinsufficiency Scores

pHI
0.361
hipred
Y
hipred_score
0.715
ghis
0.513

Essentials

essential_gene_CRISPR
E
essential_gene_CRISPR2
E
essential_gene_gene_trap
E
gene_indispensability_pred
E
gene_indispensability_score
0.926

Gene Damage Prediction

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

Mouse Genome Informatics

Gene name
Anapc5
Phenotype

Gene ontology

Biological process
cell cycle;anaphase-promoting complex-dependent catabolic process;positive regulation of mitotic metaphase/anaphase transition;cell division;protein K11-linked ubiquitination;regulation of mitotic cell cycle phase transition
Cellular component
nucleus;nucleoplasm;anaphase-promoting complex;cytosol
Molecular function
protein phosphatase binding;ubiquitin protein ligase activity