CDC42EP1

protein-coding

CDC42 effector protein 1, the group of CDC42 effector proteins

Gene summary

CDC42 is a member of the Rho GTPase family that regulates multiple cellular activities, including actin polymerization. The protein encoded by this gene is a CDC42 binding protein that mediates actin cytoskeleton reorganization at the plasma membrane. This protein is secreted and is primarily found in bone marrow. [provided by RefSeq, Jul 2008]

MANE transcript

NM_152243.3

Inheritance

—

ClinVar variants

U:87B:10

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.98

Max pathogenic AF

—

Genomic locus

chr22:37,560,480-37,569,405

External References & Databases

Ensembl (ENSG00000128283)

Transcript & Mutation Effects

hg38 • Region Span ~8.9 kb

Loading mutation effect viewer...

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 CDC42EP1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 87

not providedTotal: 7

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_152243.3. 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 clinvar	5 clinvar	7
missense			85 clinvar	4 clinvar		89
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			1 clinvar			1
Total	0	0	87	5	5	97

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 20 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_152243.3	RefSeq	NP_689449.1	2	MANE Select
ENST00000249014.5	Ensembl	ENSP00000249014.4	2	MANE Select
ENST00000415670.1	Ensembl	ENSP00000405006.1	1	Standard
ENST00000430687.1	Ensembl	ENSP00000411682.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

Rho protein signal transduction
regulation of cell shape
positive regulation of actin filament polymerization
positive regulation of pseudopodium assembly
cell-cell adhesion

Molecular Function

protein binding
GTP-Rho binding
cadherin binding involved in cell-cell adhesion

Cellular Component

cytoplasm
cytoskeleton
plasma membrane
cell-cell adherens junction
focal adhesion

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000249014
Coding exons: 2
Length: 8959
Individuals with no LoFs: 125662
Homozygous LoFs: 0
Heterozygous LoFs: 61
Defined: 125723
p: 0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	-0.790	272	238	1.14	0.0000150	2476
Missense (PolyPhen)		63	58.308	1.0805		585
Synonymous	-0.975	115	102	1.12	0.00000680	886
Loss of Function	0.0466	7	7.13	0.981	4.69e-7	71

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00031	0.00031	rare
Latino/Admixed American	0.000061	0.000058	rare
Ashkenazi Jewish	0	0.0	absent
East Asian	0.00012	0.00011	rare
Finnish	0.00044	0.00037	rare
European (Non-Finnish)	0.00036	0.00032	rare
South Asian	0.00024	0.00020	rare
Other	0.00034	0.00033	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Probably involved in the organization of the actin cytoskeleton. Induced membrane extensions in fibroblasts. {ECO:0000269|PubMed:10430899}.;

Recessive Scores

pRec: 0.106

Intolerance Scores

LoFtool: 0.725
RVIS EVS: -0.44
RVIS percentile EVS: 24.53

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: N
Indispensability score: 0.433

Gene Damage Prediction

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