CDC42EP5

CDC42 effector protein 5, the group of CDC42 effector proteins

Basic information

Region (hg38): 19:54465026-54473296

Links

ENSG00000167617 ∙ NCBI:148170 ∙ OMIM:609171 ∙ HGNC:17408 ∙ Uniprot:Q6NZY7 ∙ 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 CDC42EP5 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the CDC42EP5 gene is commonly pathogenic or not.

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.

Variant type	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			29	1		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	29	1	0

Variants in CDC42EP5

This is a list of pathogenic ClinVar variants found in the CDC42EP5 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
19-54465106-G-C		not specified	Uncertain significance (Jul 08, 2021)
19-54465109-C-T		not specified	Uncertain significance (Mar 29, 2022)
19-54465114-A-C		not specified	Uncertain significance (May 15, 2023)
19-54465139-T-G		not specified	Uncertain significance (Jul 14, 2023)
19-54465150-C-T		not specified	Uncertain significance (Feb 17, 2024)
19-54465153-G-T		not specified	Uncertain significance (Dec 12, 2024)
19-54465157-G-T		not specified	Likely benign (Feb 16, 2023)
19-54465162-G-C		not specified	Uncertain significance (Oct 25, 2022)
19-54465171-C-G		not specified	Uncertain significance (Oct 03, 2024)
19-54465178-G-A		not specified	Uncertain significance (Jul 12, 2022)
19-54465180-G-C		not specified	Uncertain significance (Mar 01, 2024)
19-54465186-G-A		not specified	Uncertain significance (Jul 27, 2022)
19-54465194-C-G		not specified	Uncertain significance (Jan 31, 2024)
19-54465202-C-T		not specified	Uncertain significance (Jul 19, 2023)
19-54465232-C-G		not specified	Uncertain significance (Feb 13, 2025)
19-54465258-G-A		not specified	Uncertain significance (Jun 02, 2024)
19-54465271-G-C		not specified	Uncertain significance (Aug 10, 2021)
19-54465288-G-T		not specified	Uncertain significance (Mar 23, 2022)
19-54465318-G-A		not specified	Uncertain significance (Feb 28, 2023)
19-54465319-G-A		not specified	Uncertain significance (Dec 20, 2021)
19-54465324-G-C		not specified	Uncertain significance (Dec 18, 2024)
19-54465333-G-A		not specified	Uncertain significance (Aug 02, 2021)
19-54465342-C-T		not specified	Uncertain significance (Jan 02, 2025)
19-54465348-G-C		not specified	Uncertain significance (Sep 26, 2024)
19-54465348-G-T		not specified	Uncertain significance (Dec 20, 2021)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
CDC42EP5	protein_coding	protein_coding	ENST00000301200	1	8202

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.321	0.499	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.00	33	53.6	0.615	0.00000360	885
Missense in Polyphen		10	24.006	0.41657		362
Synonymous	2.15	13	27.3	0.476	0.00000205	337
Loss of Function	0.564	0	0.370	0.00	1.57e-8	7

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00	0.00
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.00	0.00
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Probably involved in the organization of the actin cytoskeleton. May act downstream of CDC42 to induce actin filament assembly leading to cell shape changes. Induces pseudopodia formation in fibroblasts. Inhibits MAPK8 independently of CDC42 binding. Controls septin organization and this effect is negatively regulated by CDC42 (By similarity). {ECO:0000250}.
• Pathway: Signal Transduction;MAPK6/MAPK4 signaling;MAPK family signaling cascades (Consensus)

Haploinsufficiency Scores

• pHI: 0.146
• hipred: Y
• hipred_score: 0.506
• ghis: 0.494

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.625

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Cdc42ep5

Gene ontology

• Biological process: JNK cascade;Rho protein signal transduction;regulation of cell shape;positive regulation of actin filament polymerization;positive regulation of pseudopodium assembly
• Cellular component: cytoplasm;cytosol;cytoskeleton;plasma membrane;endomembrane system;membrane
• Molecular function: GTP-Rho binding