CDC20

cell division cycle 20, the group of WD repeat domain containing

Basic information

Region (hg38): 1:43358980-43363203

Links

ENSG00000117399 ∙ NCBI:991 ∙ OMIM:603618 ∙ HGNC:1723 ∙ Uniprot:Q12834 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• oocyte maturation defect 14 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Oocyte/zygote/embryo maturation arrest 14	AR	General	Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing	Obstetric	32666501; 33683667; 33898437; 34218387

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CDC20 gene.

• Inborn genetic diseases (24 variants)
• not provided (2 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC20 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					1	1
missense			24		1	25
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	24	0	2

Variants in CDC20

This is a list of pathogenic ClinVar variants found in the CDC20 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-43359303-C-A		not specified	Uncertain significance (Feb 27, 2023)
1-43359324-G-A		not specified	Uncertain significance (Feb 10, 2022)
1-43359610-C-T		not specified	Uncertain significance (May 09, 2022)
1-43359612-G-C		not specified	Uncertain significance (Sep 06, 2022)
1-43359639-G-A		Oocyte maturation defect 14	Pathogenic (Apr 10, 2023)
1-43359730-T-A		not specified	Uncertain significance (Feb 17, 2022)
1-43359813-C-T		not specified	Uncertain significance (Nov 30, 2022)
1-43360010-A-C		not specified	Uncertain significance (Aug 10, 2021)
1-43360025-C-G		not specified	Uncertain significance (Jun 21, 2022)
1-43360058-G-C		not specified	Uncertain significance (Jun 01, 2023)
1-43360085-C-T		Oocyte maturation defect 14	Pathogenic (Apr 10, 2023)
1-43360098-G-T		Oocyte maturation defect 14	Likely pathogenic (Mar 25, 2024)
1-43360267-G-A		Oocyte maturation defect 14	Pathogenic (Apr 10, 2023)
1-43360319-A-G		Oocyte maturation defect 14	Pathogenic (Apr 10, 2023)
1-43360361-C-T		not specified	Uncertain significance (May 05, 2023)
1-43360529-C-T		Oocyte maturation defect 14	Pathogenic (Apr 10, 2023)
1-43360553-C-CGAGT		Oocyte maturation defect 14	Pathogenic (Apr 10, 2023)
1-43360740-C-A			Uncertain significance (Nov 30, 2022)
1-43360761-C-T		not specified	Uncertain significance (Oct 03, 2022)
1-43360830-C-T		not specified	Uncertain significance (Dec 03, 2021)
1-43360848-C-T		Oocyte maturation defect 14	Pathogenic (Apr 10, 2023)
1-43360849-G-A		Oocyte maturation defect 14	Pathogenic (Apr 10, 2023)
1-43360902-C-A		not specified	Uncertain significance (Aug 12, 2021)
1-43360956-G-A		not specified	Uncertain significance (Oct 03, 2023)
1-43361123-G-A			Benign (Dec 31, 2019)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDC20	protein_coding	protein_coding	ENST00000372462	10	4249

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.00e-7	0.983	125674	0	74	125748	0.000294

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.83	208	297	0.701	0.0000165	3245
Missense in Polyphen		38	87.499	0.43429		955
Synonymous	1.14	96	111	0.862	0.00000538	1022
Loss of Function	2.22	15	27.6	0.544	0.00000155	266

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000438	0.000438
Ashkenazi Jewish	0.00120	0.00119
East Asian	0.000163	0.000163
Finnish	0.0000929	0.0000462
European (Non-Finnish)	0.000301	0.000299
Middle Eastern	0.000163	0.000163
South Asian	0.000231	0.000229
Other	0.000491	0.000489

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for full ubiquitin ligase activity of the anaphase promoting complex/cyclosome (APC/C) and may confer substrate specificity upon the complex. Is regulated by MAD2L1: in metaphase the MAD2L1-CDC20-APC/C ternary complex is inactive and in anaphase the CDC20-APC/C binary complex is active in degrading substrates. The CDC20-APC/C complex positively regulates the formation of synaptic vesicle clustering at active zone to the presynaptic membrane in postmitotic neurons. CDC20-APC/C-induced degradation of NEUROD2 induces presynaptic differentiation. {ECO:0000269|PubMed:9637688, ECO:0000269|PubMed:9734353, ECO:0000269|PubMed:9811605}.
• Pathway: Cell cycle - Homo sapiens (human);Oocyte meiosis - Homo sapiens (human);Ubiquitin mediated proteolysis - Homo sapiens (human);HTLV-I infection - Homo sapiens (human);Viral carcinogenesis - Homo sapiens (human);Cell Cycle;Regulation of sister chromatid separation at the metaphase-anaphase transition;Signal Transduction;Post-translational protein modification;Metabolism of proteins;Amplification of signal from unattached kinetochores via a MAD2 inhibitory signal;Amplification of signal from the kinetochores;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;RHO GTPases Activate Formins;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation;RHO GTPase Effectors;Signaling by Rho GTPases;Ub-specific processing proteases;Deubiquitination;Mitotic Prometaphase;Separation of Sister Chromatids;Mitotic Anaphase;Mitotic Metaphase and Anaphase;M Phase;Phosphorylation of Emi1;SCF-beta-TrCP mediated degradation of Emi1;Regulation of APC/C activators between G1/S and early anaphase;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;APC/C-mediated degradation of cell cycle proteins;Regulation of mitotic cell cycle;Cell Cycle;Resolution of Sister Chromatid Cohesion;Cell Cycle, Mitotic;PLK1 signaling events (Consensus)

Recessive Scores

• pRec: 0.208

Intolerance Scores

• loftool: 0.803
• rvis_EVS: -0.4
• rvis_percentile_EVS: 26.53

Haploinsufficiency Scores

• pHI: 0.997
• hipred: Y
• hipred_score: 0.706
• ghis: 0.698

Essentials

• essential_gene_CRISPR: E
• essential_gene_CRISPR2: E
• essential_gene_gene_trap: E
• gene_indispensability_pred: E
• gene_indispensability_score: 0.538

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdc20
• Phenotype: growth/size/body region phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan); homeostasis/metabolism phenotype; cellular phenotype; embryo phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); reproductive system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); neoplasm; digestive/alimentary phenotype

Zebrafish Information Network

• Gene name: cdc20
• Affected structure: whole organism
• Phenotype tag: abnormal
• Phenotype quality: lethal (sensu genetics)

Gene ontology

• Biological process: mitotic sister chromatid cohesion;mitotic spindle assembly checkpoint;positive regulation of cell population proliferation;protein ubiquitination;protein deubiquitination;anaphase-promoting complex-dependent catabolic process;positive regulation of synaptic plasticity;regulation of meiotic nuclear division;regulation of dendrite development;cell division;positive regulation of synapse maturation;mitotic spindle assembly;regulation of mitotic cell cycle phase transition;positive regulation of ubiquitin protein ligase activity
• Cellular component: spindle pole;nucleus;nucleoplasm;anaphase-promoting complex;centrosome;spindle;cytosol;perinuclear region of cytoplasm
• Molecular function: protein binding;protein C-terminus binding;anaphase-promoting complex binding;enzyme binding;histone deacetylase binding;ubiquitin-protein transferase activator activity