RHOU
Basic information
Region (hg38): 1:228735479-228746664
Previous symbols: [ "ARHU" ]
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 RHOU 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 | 10 | 10 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 10 | 0 | 0 |
Variants in RHOU
This is a list of pathogenic ClinVar variants found in the RHOU region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-228735756-A-G | not specified | Uncertain significance (Oct 05, 2021) | ||
| 1-228735836-G-A | not specified | Uncertain significance (Jun 22, 2021) | ||
| 1-228735863-C-T | not specified | Uncertain significance (Aug 30, 2021) | ||
| 1-228735899-G-C | not specified | Uncertain significance (Apr 01, 2024) | ||
| 1-228735951-C-T | not specified | Uncertain significance (Oct 06, 2021) | ||
| 1-228743367-C-T | not specified | Uncertain significance (Jun 22, 2021) | ||
| 1-228743406-G-A | not specified | Uncertain significance (Dec 21, 2023) | ||
| 1-228743429-A-G | not specified | Uncertain significance (Apr 22, 2022) | ||
| 1-228743495-T-C | not specified | Uncertain significance (Aug 14, 2023) | ||
| 1-228743555-G-A | not specified | Uncertain significance (Aug 10, 2021) | ||
| 1-228743634-A-G | not specified | Uncertain significance (Jun 29, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RHOU | protein_coding | protein_coding | ENST00000366691 | 3 | 11593 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0778 | 0.877 | 125740 | 0 | 8 | 125748 | 0.0000318 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.945 | 96 | 126 | 0.763 | 0.00000727 | 1656 |
| Missense in Polyphen | 32 | 54.205 | 0.59035 | 656 | ||
| Synonymous | -0.792 | 62 | 54.6 | 1.14 | 0.00000371 | 519 |
| Loss of Function | 1.71 | 3 | 8.30 | 0.361 | 4.24e-7 | 106 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000169 | 0.000123 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000473 | 0.0000439 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Acts upstream of PAK1 to regulate the actin cytoskeleton, adhesion turnover and increase cell migration. Stimulates quiescent cells to reenter the cell cycle. Has no detectable GTPase activity but its high intrinsic guanine nucleotide exchange activity suggests it is constitutively GTP- bound. Plays a role in the regulation of cell morphology and cytoskeletal organization. Required in the control of cell shape. {ECO:0000269|PubMed:11459829, ECO:0000269|PubMed:16472646, ECO:0000269|PubMed:17620058, ECO:0000269|PubMed:18086875, ECO:0000269|PubMed:21834987}.;
- Pathway
- Interleukin-4 and 13 signaling;Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases
(Consensus)
Recessive Scores
- pRec
- 0.161
Intolerance Scores
- loftool
- 0.360
- rvis_EVS
- -0.23
- rvis_percentile_EVS
- 36.86
Haploinsufficiency Scores
- pHI
- 0.484
- hipred
- Y
- hipred_score
- 0.770
- ghis
- 0.544
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.262
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rhou
- Phenotype
- hematopoietic system phenotype; homeostasis/metabolism phenotype;
Zebrafish Information Network
- Gene name
- rhoua
- Affected structure
- atrioventricular canal
- Phenotype tag
- abnormal
- Phenotype quality
- malformed
Gene ontology
- Biological process
- G1/S transition of mitotic cell cycle;endocytosis;cytoskeleton organization;actin filament organization;establishment or maintenance of cell polarity;Rho protein signal transduction;regulation of cell shape;Rac protein signal transduction;cytokine-mediated signaling pathway;cell projection assembly;actin cytoskeleton organization;Cdc42 protein signal transduction;regulation of actin cytoskeleton organization;regulation of small GTPase mediated signal transduction;positive regulation of protein targeting to mitochondrion
- Cellular component
- Golgi membrane;podosome;cytoplasm;cytosol;plasma membrane;focal adhesion;cell cortex;cell projection
- Molecular function
- GTPase activity;protein binding;GTP binding;protein kinase binding;metal ion binding