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

ENSG00000139725NCBI:54509OMIM:618867HGNC:15703Uniprot:Q9HBH0AlphaFoldGenCCjaxSfariGnomADPubmedClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

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

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.

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
1
clinvar
1
missense
11
clinvar
11
nonsense
0
start loss
0
frameshift
0
inframe indel
0
splice donor/acceptor (+/-2bp)
0
splice region
0
non coding
0
Total 0 0 11 1 0

Variants in RHOF

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

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

Position Type Phenotype Significance ClinVar
12-121779533-G-A not specified Uncertain significance (Aug 30, 2021)2366432
12-121779551-C-T not specified Uncertain significance (Jul 06, 2021)3154082
12-121779647-C-T not specified Uncertain significance (Dec 14, 2021)2267262
12-121780885-A-G not specified Uncertain significance (Jan 19, 2024)2263462
12-121780906-C-T not specified Uncertain significance (Aug 09, 2021)2242021
12-121780971-G-T Likely benign (Jan 01, 2023)2643414
12-121780978-C-T not specified Uncertain significance (Aug 08, 2022)3154080
12-121781174-C-T not specified Uncertain significance (Oct 25, 2023)3154079
12-121793175-G-A not specified Uncertain significance (Aug 12, 2021)2244252
12-121793180-C-A not specified Uncertain significance (Nov 21, 2022)2328803
12-121793193-A-G not specified Uncertain significance (Nov 06, 2023)3154078
12-121793528-G-A not specified Uncertain significance (Mar 01, 2023)2455213

GnomAD

Source: gnomAD

GeneTypeBio TypeTranscript Coding Exons Length
RHOFprotein_codingprotein_codingENST00000267205 525646
pLI Probability
LOF Intolerant
pRec Probability
LOF Recessive
Individuals with
no LOFs
Individuals with
Homozygous LOFs
Individuals with
Heterozygous LOFs
Defined p
0.0001760.7131257060391257450.000155
Z-Score Observed Expected Observed/Expected Mutation Rate Total Possible in Transcript
Missense0.8741141430.7950.000009551347
Missense in Polyphen4663.4020.72553594
Synonymous0.6615965.80.8960.00000456438
Loss of Function0.929710.20.6865.20e-7107

LoF frequencies by population

EthnicitySum of pLOFs p
African & African-American0.0002020.000202
Ashkenazi Jewish0.000.00
East Asian0.000.00
Finnish0.0004310.000416
European (Non-Finnish)0.0001690.000167
Middle Eastern0.000.00
South Asian0.00006530.0000653
Other0.0003270.000326

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

AllRecessiveDominant
MendelianMediumMediumMedium
Primary ImmunodeficiencyMediumMediumMedium
CancerMediumMediumMedium

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