RHOF
Basic information
Region (hg38): 12:121777754-121803403
Previous symbols: [ "ARHF" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
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 | |||||
missense | 11 | 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) | ||
12-121779551-C-T | not specified | Uncertain significance (Jul 06, 2021) | ||
12-121779647-C-T | not specified | Uncertain significance (Dec 14, 2021) | ||
12-121780885-A-G | not specified | Uncertain significance (Jan 19, 2024) | ||
12-121780906-C-T | not specified | Uncertain significance (Aug 09, 2021) | ||
12-121780971-G-T | Likely benign (Jan 01, 2023) | |||
12-121780978-C-T | not specified | Uncertain significance (Aug 08, 2022) | ||
12-121781174-C-T | not specified | Uncertain significance (Oct 25, 2023) | ||
12-121793175-G-A | not specified | Uncertain significance (Aug 12, 2021) | ||
12-121793180-C-A | not specified | Uncertain significance (Nov 21, 2022) | ||
12-121793193-A-G | not specified | Uncertain significance (Nov 06, 2023) | ||
12-121793528-G-A | not specified | Uncertain significance (Mar 01, 2023) |
GnomAD
Source:
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:
- 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