ANAPC11

anaphase promoting complex subunit 11, the group of Anaphase promoting complex |Ring finger proteins

Basic information

Region (hg38): 17:81890790-81900991

Links

ENSG00000141552

∙ NCBI:51529 ∙ OMIM:614534 ∙ HGNC:14452 ∙ Uniprot:Q9NYG5 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ANAPC11 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ANAPC11 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			4 clinvar			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in ANAPC11

This is a list of pathogenic ClinVar variants found in the ANAPC11 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Phenotype	Significance	ClinVar
17-81891535-G-A	ALYREF-related disorder	Likely benign (Mar 11, 2024)	3350262
17-81891570-G-A	not specified	Uncertain significance (Mar 29, 2022)	2279903
17-81891576-G-T	ALYREF-related disorder	Uncertain significance (Jun 22, 2023)	2636880
17-81894508-G-A	not specified	Uncertain significance (Apr 26, 2024)	3293800
17-81899263-T-C	not specified	Uncertain significance (Mar 07, 2023)	2471429
17-81899304-C-G	not specified	Uncertain significance (Oct 03, 2023)	3117730
17-81899467-C-T	not specified	Uncertain significance (Apr 08, 2024)	3293818
17-81899963-C-T	not specified	Uncertain significance (Jan 30, 2024)	3117731
17-81900006-G-A	not specified	Uncertain significance (Dec 19, 2023)	3117733
17-81900058-A-G	not specified	Likely benign (Apr 01, 2024)	3293811

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
ANAPC11	protein_coding	protein_coding	ENST00000357385	3	10202

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.333	0.654	125376	0	250	125626	0.000996

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.12	84	118	0.709	0.00000653	1245
Missense in Polyphen		9	19.845	0.45351		216
Synonymous	-0.0898	50	49.2	1.02	0.00000309	437
Loss of Function	2.08	2	8.56	0.234	5.47e-7	74

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000406	0.000406
Ashkenazi Jewish	0.00241	0.00239
East Asian	0.0000544	0.0000544
Finnish	0.0000464	0.0000462
European (Non-Finnish)	0.0000903	0.0000881
Middle Eastern	0.0000544	0.0000544
South Asian	0.00644	0.00646
Other	0.000493	0.000490

dbNSFP

Source: dbNSFP

Function: FUNCTION: Together with the cullin protein ANAPC2, constitutes the catalytic 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. May recruit the E2 ubiquitin-conjugating enzymes to the complex. {ECO:0000269|PubMed:11739784, 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);Progesterone-mediated oocyte maturation - Homo sapiens (human);Regulation of sister chromatid separation at the metaphase-anaphase transition;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;De novo fatty acid biosynthesis;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)

Recessive Scores

pRec: 0.0611

Intolerance Scores

loftool: 0.210
rvis_EVS: 0.26
rvis_percentile_EVS: 70.06

Haploinsufficiency Scores

pHI: 0.315
hipred: Y
hipred_score: 0.672
ghis: 0.444

Essentials

essential_gene_CRISPR: E
essential_gene_CRISPR2: E
essential_gene_gene_trap: E
gene_indispensability_pred: E
gene_indispensability_score: 0.846

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

Gene name: Anapc11
Phenotype

Gene ontology

Biological process: mitotic cell cycle;ubiquitin-dependent protein catabolic process;protein ubiquitination;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;nucleolus;cytosol;cullin-RING ubiquitin ligase complex
Molecular function: ubiquitin-protein transferase activity;ubiquitin-ubiquitin ligase activity;metal ion binding;ubiquitin protein ligase activity;cullin family protein binding