RHOF

ras homolog family member F, filopodia associated, the group of Rho family GTPases

Basic information

Region (hg38): 12:121777754-121803403

Previous symbols: [ "ARHF" ]

Links

ENSG00000139725

∙ NCBI:54509 ∙ OMIM:618867 ∙ HGNC:15703 ∙ Uniprot:Q9HBH0 ∙ 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 RHOF gene.

not_specified (29 variants)
not_provided (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOF gene is commonly pathogenic or not. These statistics are base on transcript: NM_000019034.3. 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	PathogenicP	Likely pathogenicLP	VUSVUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			28 clinvar	1 clinvar		29
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	28	2	0

Loading clinvar variants...

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RHOF	protein_coding	protein_coding	ENST00000267205	5	25646

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000176	0.713	125706	0	39	125745	0.000155

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.874	114	143	0.795	0.00000955	1347
Missense in Polyphen		46	63.402	0.72553		594
Synonymous	0.661	59	65.8	0.896	0.00000456	438
Loss of Function	0.929	7	10.2	0.686	5.20e-7	107

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000202	0.000202
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.000431	0.000416
European (Non-Finnish)	0.000169	0.000167
Middle Eastern	0.00	0.00
South Asian	0.0000653	0.0000653
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

Function: FUNCTION: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. Causes the formation of thin, actin-rich surface projections called filopodia. Functions cooperatively with CDC42 and Rac to generate additional structures, increasing the diversity of actin- based morphology.;
Pathway: Neutrophil degranulation;Signal Transduction;Innate Immune System;Immune System;Rho GTPase cycle;Signaling by Rho GTPases (Consensus)

Recessive Scores

pRec: 0.145

Intolerance Scores

loftool: 0.635
rvis_EVS: 0.35
rvis_percentile_EVS: 74.18

Haploinsufficiency Scores

pHI: 0.158
hipred: N
hipred_score: 0.240
ghis: 0.556

Essentials

essential_gene_CRISPR: N
essential_gene_CRISPR2: N
essential_gene_gene_trap: N
gene_indispensability_pred: E
gene_indispensability_score: 0.660

Gene Damage Prediction

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

Mouse Genome Informatics

Gene name: Rhof
Phenotype: hematopoietic system phenotype;

Gene ontology

Biological process: actin filament organization;Rho protein signal transduction;regulation of cell shape;cell migration;regulation of cell migration;establishment or maintenance of actin cytoskeleton polarity;regulation of actin cytoskeleton organization;neutrophil degranulation;actin filament bundle assembly;regulation of small GTPase mediated signal transduction
Cellular component: cytoplasm;cytosol;cytoskeleton;plasma membrane;cell cortex;secretory granule membrane;cell division site;intracellular membrane-bounded organelle;extracellular exosome
Molecular function: GTPase activity;GTP binding;protein kinase binding