CCPG1

protein-coding

cell cycle progression 1, the group of MicroRNA protein coding host genes

Gene summary

Involved in positive regulation of cell cycle and positive regulation of cell population proliferation. Acts upstream of or within reticulophagy. Predicted to be active in membrane. [provided by Alliance of Genome Resources, Jun 2026]

MANE transcript

NM_001204450.2

Inheritance

—

ClinVar variants

U:94B:7

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.35

Max pathogenic AF

—

Genomic locus

chr15:55,340,032-55,408,510

External References & Databases

Ensembl (ENSG00000260916)

Transcript & Mutation Effects

hg38 • Region Span ~68.5 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 CCPG1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 100

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_001204450.2. 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				2 clinvar		2
missense			94 clinvar	5 clinvar		99
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	94	7	0	101

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 45 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_001204450.2	RefSeq	NP_001191379.1	8	MANE Select
ENST00000442196.8	Ensembl	ENSP00000403400.3	8	MANE Select
NM_001204451.2	RefSeq	NP_001191380.1	9	Standard
NM_004748.6	RefSeq	NP_004739.3	7	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

cell cycle
positive regulation of cell population proliferation
positive regulation of cell cycle
positive regulation of transcription by RNA polymerase II
regulation of Rho guanyl-nucleotide exchange factor activity

Molecular Function

molecular_function
protein binding

Cellular Component

integral component of membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000442196
Coding exons: 8
Length: 68479
Individuals with no LoFs: 124760
Homozygous LoFs: 0
Heterozygous LoFs: 34
Defined: 124794
p: 0.000136

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.990	350	406	0.862	0.0000199	5407
Missense (PolyPhen)		97	149.37	0.64941		2069
Synonymous	-0.722	147	136	1.08	0.00000657	1382
Loss of Function	3.54	12	34.5	0.348	0.00000173	475

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00033	0.00032	rare
Latino/Admixed American	0.000087	0.000087	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00022	0.00022	rare
Finnish	0.000093	0.000093	rare
European (Non-Finnish)	0.00013	0.00013	rare
South Asian	0.00017	0.00016	rare
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as an assembly platform for Rho protein signaling complexes. Limits guanine nucleotide exchange activity of MCF2L toward RHOA, which results in an inhibition of both its transcriptional activation ability and its transforming activity. Does not inhibit activity of MCF2L toward CDC42, or activity of MCF2 toward either RHOA or CDC42 (By similarity). May be involved in cell cycle regulation. {ECO:0000250, ECO:0000269|PubMed:9383053}.;

Recessive Scores

pRec: 0.103

Intolerance Scores

LoFtool: 0.506
RVIS EVS: 0.6
RVIS percentile EVS: 82.87

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.0844

Gene Damage Prediction

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