CDC42EP1

CDC42 effector protein 1, the group of CDC42 effector proteins

Basic information

Region (hg38): 22:37560480-37569405

Links

ENSG00000128283 ∙ NCBI:11135 ∙ OMIM:606084 ∙ HGNC:17014 ∙ Uniprot:Q00587 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the CDC42EP1 gene.

• not_specified (80 variants)
• not_provided (7 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC42EP1 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000152243.3. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				1	5	6
missense			76	4		80
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	76	5	5

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDC42EP1	protein_coding	protein_coding	ENST00000249014	2	8959

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000254	0.324	125662	0	61	125723	0.000243

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.790	272	238	1.14	0.0000150	2476
Missense in 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

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000369	0.000368
Ashkenazi Jewish	0.00	0.00
East Asian	0.000116	0.000109
Finnish	0.000440	0.000370
European (Non-Finnish)	0.000359	0.000317
Middle Eastern	0.000116	0.000109
South Asian	0.000242	0.000196
Other	0.000343	0.000326

dbNSFP

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

Haploinsufficiency Scores

• pHI: 0.0886
• hipred: N
• hipred_score: 0.182
• ghis: 0.486

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.433

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdc42ep1

Gene ontology

• Biological process: Rho protein signal transduction;regulation of cell shape;positive regulation of actin filament polymerization;positive regulation of pseudopodium assembly;cell-cell adhesion
• Cellular component: cytoplasm;cytoskeleton;plasma membrane;cell-cell adherens junction;focal adhesion;endomembrane system
• Molecular function: protein binding;GTP-Rho binding;cadherin binding involved in cell-cell adhesion