RHOB
ras homolog family member B, the group of Rho family GTPases
Basic information
Region (hg38): 2:20447073-20449440
Previous symbols: [ "ARH6", "ARHB" ]
Links
Phenotypes
GenCC
Source:
No genCC data.
ClinVar
This is a list of variants' phenotypes submitted to
- "See Cases" (1 variants)
- Recurrent pancreatitis (1 variants)
- RHOB-related disorder (1 variants)
- Inborn genetic diseases (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOB 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 | 0 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region ? | 0 | |||||
| non coding ? | 0 | |||||
| Total | 0 | 0 | 0 | 0 | 0 |
Variants in RHOB
This is a list of pathogenic ClinVar variants found in the RHOB region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 2-20447683-C-T | Recurrent pancreatitis • "See Cases" • RHOB-related disorder • not specified | Conflicting classifications of pathogenicity (Aug 25, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RHOB | protein_coding | protein_coding | ENST00000272233 | 1 | 2366 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.123 | 0.788 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 2.51 | 46 | 125 | 0.368 | 0.00000565 | 1282 |
| Missense in Polyphen | 8 | 37.545 | 0.21308 | 439 | ||
| Synonymous | -3.10 | 86 | 56.4 | 1.53 | 0.00000274 | 400 |
| Loss of Function | 1.35 | 2 | 5.39 | 0.371 | 2.31e-7 | 59 |
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:
- Function
- FUNCTION: Mediates apoptosis in neoplastically transformed cells after DNA damage. Not essential for development but affects cell adhesion and growth factor signaling in transformed cells. Plays a negative role in tumorigenesis as deletion causes tumor formation. Involved in intracellular protein trafficking of a number of proteins. Targets PKN1 to endosomes and is involved in trafficking of the EGF receptor from late endosomes to lysosomes. Also required for stability and nuclear trafficking of AKT1/AKT which promotes endothelial cell survival during vascular development. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Required for genotoxic stress-induced cell death in breast cancer cells. {ECO:0000269|PubMed:10508588, ECO:0000269|PubMed:15226397, ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:21373644, ECO:0000269|PubMed:9478917}.;
- Pathway
- Androgen receptor signaling pathway;miR-targeted genes in epithelium - TarBase;miR-targeted genes in lymphocytes - TarBase;Neural Crest Differentiation;Spinal Cord Injury;Ebola Virus Pathway on Host;Ebola Virus Pathway on Host;Developmental Biology;Signaling by GPCR;Signal Transduction;RHO GTPases Activate Rhotekin and Rhophilins;RHO GTPases Activate Formins;Rho GTPase cycle;RHO GTPases Activate ROCKs;GPVI-mediated activation cascade;RHO GTPases activate PKNs;RHO GTPases activate CIT;Platelet activation, signaling and aggregation;RHO GTPase Effectors;Signaling by Rho GTPases;Sema4D induced cell migration and growth-cone collapse;Sema4D in semaphorin signaling;CXCR4-mediated signaling events;Hemostasis;Semaphorin interactions;Axon guidance;G alpha (12/13) signalling events;GPCR downstream signalling;p75(NTR)-mediated signaling
(Consensus)
Intolerance Scores
- loftool
- 0.285
- rvis_EVS
- 0.08
- rvis_percentile_EVS
- 59.76
Haploinsufficiency Scores
- pHI
- 0.393
- hipred
- Y
- hipred_score
- 0.672
- ghis
- 0.411
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.937
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Low | Medium |
| Primary Immunodeficiency | Medium | Low | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rhob
- Phenotype
- nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); vision/eye phenotype; cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan); neoplasm; cellular phenotype; homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- mitotic cytokinesis;angiogenesis;intracellular protein transport;apoptotic process;actin filament organization;cell adhesion;G protein-coupled receptor signaling pathway;Rho protein signal transduction;endosome to lysosome transport;regulation of cell shape;positive regulation of endothelial cell migration;cell migration;cell differentiation;regulation of cell migration;negative regulation of cell migration;establishment or maintenance of actin cytoskeleton polarity;regulation of actin cytoskeleton organization;positive regulation of apoptotic process;positive regulation of angiogenesis;negative regulation of cell cycle;actin filament bundle assembly;regulation of small GTPase mediated signal transduction;endothelial tube morphogenesis;cellular response to hydrogen peroxide;cellular response to ionizing radiation
- Cellular component
- nucleus;cytoplasm;early endosome;cytosol;plasma membrane;focal adhesion;cell cortex;endosome membrane;late endosome membrane;cell division site;cleavage furrow;intracellular membrane-bounded organelle;extracellular exosome
- Molecular function
- GTPase activity;protein binding;GTP binding;GDP binding;protein kinase binding