RHOV

ras homolog family member V, the group of Rho family GTPases

Basic information

Region (hg38): 15:40872214-40874234

Previous symbols: [ "ARHV" ]

Links

ENSG00000104140 ∙ NCBI:171177 ∙ OMIM:620101 ∙ HGNC:18313 ∙ Uniprot:Q96L33 ∙ 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 RHOV gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOV 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			5	1		6
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	5	1	0

Variants in RHOV

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

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

Position	Type	Phenotype	Significance	ClinVar
15-40873380-C-T		not specified	Uncertain significance (Jun 04, 2024)
15-40873390-G-C		not specified	Uncertain significance (May 21, 2024)
15-40873467-G-C		not specified	Uncertain significance (Aug 02, 2022)
15-40874022-C-T		not specified	Uncertain significance (Nov 22, 2021)
15-40874064-C-T		not specified	Uncertain significance (Oct 07, 2022)
15-40874065-G-C		not specified	Uncertain significance (Dec 02, 2022)
15-40874088-T-G		not specified	Uncertain significance (Dec 14, 2021)
15-40874109-G-A		not specified	Likely benign (Feb 05, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHOV	protein_coding	protein_coding	ENST00000220507	3	2076

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.762	0.237	125739	0	7	125746	0.0000278

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.95	75	140	0.536	0.00000834	1490
Missense in Polyphen		19	48.243	0.39384		549
Synonymous	0.863	56	64.8	0.864	0.00000404	512
Loss of Function	2.49	1	9.08	0.110	5.27e-7	89

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000617	0.0000615
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000531	0.0000527
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Plays a role in the control of the actin cytoskeleton via activation of the JNK pathway. {ECO:0000250|UniProtKB:Q9Z1Y0}.
• Pathway: Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

• pRec: 0.157

Intolerance Scores

• loftool: 0.390
• rvis_EVS: 0.01
• rvis_percentile_EVS: 54.63

Haploinsufficiency Scores

• pHI: 0.256
• hipred: Y
• hipred_score: 0.568
• ghis: 0.613

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.286

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rhov

Zebrafish Information Network

• Gene name: rhov
• Affected structure: DEL
• Phenotype tag: abnormal
• Phenotype quality: position

Gene ontology

• Biological process: endocytosis;actin filament organization;establishment or maintenance of cell polarity;Rho protein signal transduction;regulation of cell shape;cell projection assembly;actin cytoskeleton organization;Cdc42 protein signal transduction;regulation of actin cytoskeleton organization;regulation of small GTPase mediated signal transduction
• Cellular component: cytoplasm;cytosol;plasma membrane;cell cortex;endosome membrane;cell projection
• Molecular function: GTPase activity;protein binding;GTP binding;protein kinase binding;metal ion binding