CDC20B

protein-coding

cell division cycle 20B, the group of MicroRNA protein coding host genes|WD repeat domain containing

Gene summary

Predicted to enable anaphase-promoting complex binding activity and ubiquitin ligase activator activity. Involved in de novo centriole assembly. Located in deuterosome. [provided by Alliance of Genome Resources, Jul 2025]

MANE transcript

NM_001170402.1

Inheritance

—

ClinVar variants

U:67B:6

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.77

Max pathogenic AF

—

Genomic locus

chr5:55,112,971-55,173,177

External References & Databases

Ensembl (ENSG00000164287)

Transcript & Mutation Effects

hg38 • Region Span ~60.2 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

No GenCC data available for this gene.

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to CDC20B variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 99

not providedTotal: 2

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001170402.1. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			66 clinvar	5 clinvar		71
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	67	6	0	73

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 10 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001170402.1	RefSeq	NP_001163873.1	12	MANE Select
ENST00000381375.7	Ensembl	ENSP00000370781.2	12	MANE Select
NM_001145734.2	RefSeq	NP_001139206.2	11	Standard
NM_152623.2	RefSeq	NP_689836.2	12	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

miRNA Regulation of DNA Damage Response

Biological Process

positive regulation of ubiquitin protein ligase activity

Molecular Function

protein binding
anaphase-promoting complex binding
ubiquitin-protein transferase activator activity

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000381375
Coding exons: 12
Length: 60207
Individuals with no LoFs: 125023
Homozygous LoFs: 12
Heterozygous LoFs: 713
Defined: 125748
p: 0.00289

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.544	257	283	0.909	0.0000141	3373
Missense (PolyPhen)		52	63.789	0.81519		776
Synonymous	-0.579	115	107	1.07	0.00000560	1017
Loss of Function	1.14	21	27.4	0.765	0.00000124	316

Population LoF Frequency

Population	CAF	p-value	Status
African	0.035	0.035	notable
Latino/Admixed American	0.0022	0.0022	notable
Ashkenazi Jewish	0.00020	0.00020	rare
East Asian	0.00022	0.00022	rare
Finnish	0.000047	0.000046	rare
European (Non-Finnish)	0.00045	0.00044	rare
South Asian	0.00050	0.00049	rare
Other	0.0021	0.0021	notable

dbNSFP Gene Annotations

Source: dbNSFP

Recessive Scores

pRec: 0.0813

Intolerance Scores

LoFtool: 0.983
RVIS EVS: 0.93
RVIS percentile EVS: 89.83

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0733

Gene Damage Prediction

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