CCNB1

protein-coding

cyclin B1, the group of Cyclins

Gene summary

The protein encoded by this gene is a regulatory protein involved in mitosis. The gene product complexes with p34(cdc2) to form the maturation-promoting factor (MPF). The encoded protein is necessary for proper control of the G2/M transition phase of the cell cycle. [provided by RefSeq, Aug 2017]

Previous symbols:

CCNB

MANE transcript

NM_031966.4

Inheritance

—

ClinVar variants

U:58B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.26

Max pathogenic AF

—

Genomic locus

chr5:69,167,135-69,178,245

External References & Databases

Ensembl (ENSG00000134057)

Transcript & Mutation Effects

hg38 • Region Span ~11.1 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 CCNB1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 52

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_031966.4. 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			55 clinvar	2 clinvar		57
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			2 clinvar			2
Total	0	0	58	2	0	60

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 61 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_031966.4	RefSeq	NP_114172.1	9	MANE Select
ENST00000256442.10	Ensembl	ENSP00000256442.5	9	MANE Select
NM_001354844.2	RefSeq	NP_001341773.1	8	Standard
NM_001354845.2	RefSeq	NP_001341774.1	8	Standard

Model Organisms & Knockout Phenotypes

Observed phenotypic effects in mouse and zebrafish models

Gene / Model	Organism	Observed Phenotype
ccnb1	Danio rerio	Structure: head Quality: flat abnormal

Gene / Model

Organism

Observed Phenotype

ccnb1

Danio rerio

Structure: head

Quality: flat

abnormal

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Cell cycle - Homo sapiens (human)
Oocyte meiosis - Homo sapiens (human)
p53 signaling pathway - Homo sapiens (human)
FoxO signaling pathway - Homo sapiens (human)
Cellular senescence - Homo sapiens (human)

Biological Process

regulation of cyclin-dependent protein serine/threonine kinase activity
G2/M transition of mitotic cell cycle
mitotic cell cycle
oocyte maturation
in utero embryonic development

Molecular Function

protein kinase activity
cyclin-dependent protein serine/threonine kinase activity
patched binding
protein binding
cyclin-dependent protein serine/threonine kinase regulator activity

Cellular Component

cyclin-dependent protein kinase holoenzyme complex
spindle pole
condensed nuclear chromosome outer kinetochore
nucleus
nucleoplasm

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000256442
Coding exons: 9
Length: 11236
Individuals with no LoFs: 125734
Homozygous LoFs: 0
Heterozygous LoFs: 13
Defined: 125747
p: 0.0000517

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.169	223	230	0.969	0.0000108	2830
Missense (PolyPhen)		32	46.753	0.68445		666
Synonymous	-0.167	84	82.1	1.02	0.00000386	863
Loss of Function	3.00	5	19.2	0.261	8.10e-7	249

Population LoF Frequency

Population	CAF	p-value	Status
African	0	0.0	absent
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000072	0.000070	rare
South Asian	0.000071	0.000065	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Essential for the control of the cell cycle at the G2/M (mitosis) transition. {ECO:0000269|PubMed:17495531, ECO:0000269|PubMed:17495533}.;

Recessive Scores

pRec: 0.102

Intolerance Scores

LoFtool: 0.573
RVIS EVS: -0.18
RVIS percentile EVS: 39.95

Essentials

Essential (CRISPR): N
Essential (CRISPR2): E
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.959

Gene Damage Prediction

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