RHOD
Basic information
Region (hg38): 11:67056847-67072017
Previous symbols: [ "ARHD" ]
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 RHOD 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 | 8 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 8 | 0 | 1 |
Variants in RHOD
This is a list of pathogenic ClinVar variants found in the RHOD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 11-67056955-T-C | not specified | Uncertain significance (May 23, 2024) | ||
| 11-67057030-C-G | not specified | Uncertain significance (Dec 02, 2022) | ||
| 11-67065909-C-T | not specified | Uncertain significance (Oct 29, 2021) | ||
| 11-67066788-G-A | not specified | Uncertain significance (Aug 08, 2022) | ||
| 11-67066806-G-A | not specified | Uncertain significance (Dec 13, 2021) | ||
| 11-67066828-T-G | not specified | Uncertain significance (Jun 27, 2022) | ||
| 11-67070447-T-C | not specified | Uncertain significance (Jul 27, 2022) | ||
| 11-67071472-A-G | not specified | Uncertain significance (May 31, 2023) | ||
| 11-67071530-C-T | Benign (Dec 31, 2019) | |||
| 11-67071591-G-A | not specified | Uncertain significance (Jan 10, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RHOD | protein_coding | protein_coding | ENST00000308831 | 5 | 15196 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0159 | 0.892 | 125722 | 1 | 25 | 125748 | 0.000103 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.939 | 95 | 124 | 0.763 | 0.00000778 | 1337 |
| Missense in Polyphen | 41 | 56.249 | 0.72891 | 579 | ||
| Synonymous | 1.33 | 43 | 55.6 | 0.773 | 0.00000372 | 421 |
| Loss of Function | 1.41 | 4 | 8.42 | 0.475 | 4.43e-7 | 94 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000152 | 0.000152 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000544 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.000218 | 0.000193 |
| Middle Eastern | 0.0000544 | 0.0000544 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Involved in endosome dynamics. May coordinate membrane transport with the function of the cytoskeleton. Involved in the internalization and trafficking of activated tyrosine kinase receptors such as PDGFRB. Participates in the reorganization of actin cytoskeleton; the function seems to involve WHAMM and includes regulation of filopodia formation and actin filament bundling. Can modulate the effect of DAPK3 in reorganization of actin cytoskeleton and focal adhesion dissolution. {ECO:0000269|PubMed:23087206, ECO:0000269|PubMed:23454120, ECO:0000269|PubMed:24102721}.;
- Pathway
- Axon guidance - Homo sapiens (human);Signal Transduction;RHO GTPases Activate Formins;Rho GTPase cycle;RHO GTPase Effectors;Signaling by Rho GTPases
(Consensus)
Recessive Scores
- pRec
- 0.207
Intolerance Scores
- loftool
- 0.592
- rvis_EVS
- 0.15
- rvis_percentile_EVS
- 64.32
Haploinsufficiency Scores
- pHI
- 0.0553
- hipred
- Y
- hipred_score
- 0.676
- ghis
- 0.438
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.487
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rhod
- Phenotype
Gene ontology
- Biological process
- protein targeting;actin filament organization;Rho protein signal transduction;regulation of cell shape;cell migration;lamellipodium assembly;regulation of cell migration;positive regulation of cell migration;establishment or maintenance of actin cytoskeleton polarity;regulation of actin cytoskeleton organization;positive regulation of cell adhesion;focal adhesion assembly;actin filament bundle assembly;regulation of small GTPase mediated signal transduction;regulation of focal adhesion assembly;regulation of actin cytoskeleton reorganization
- Cellular component
- cytoplasm;early endosome;cytosol;plasma membrane;cell cortex;endosome membrane;cell division site;intracellular membrane-bounded organelle
- Molecular function
- GTPase activity;GTP binding;protein kinase binding