RHOC
Basic information
Region (hg38): 1:112701127-112707434
Previous symbols: [ "ARH9", "ARHC" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (13 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOC gene is commonly pathogenic or not. These statistics are base on transcript: NM_000175744.5. Only rare variants are included in the table.
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.
| Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
|---|---|---|---|---|---|---|
| synonymous | 0 | |||||
| missense | 13 | 13 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 13 | 0 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RHOC | protein_coding | protein_coding | ENST00000285735 | 4 | 6329 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.768 | 0.231 | 125736 | 0 | 9 | 125745 | 0.0000358 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.85 | 65 | 123 | 0.530 | 0.00000787 | 1260 |
| Missense in Polyphen | 15 | 33.874 | 0.44282 | 424 | ||
| Synonymous | -1.13 | 58 | 48.0 | 1.21 | 0.00000300 | 378 |
| Loss of Function | 2.50 | 1 | 9.17 | 0.109 | 5.38e-7 | 96 |
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) | 0.0000361 | 0.0000352 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.000101 | 0.0000980 |
| Other | 0.000328 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates a signal transduction pathway linking plasma membrane receptors to the assembly of focal adhesions and actin stress fibers. Serves as a microtubule-dependent signal that is required for the myosin contractile ring formation during cell cycle cytokinesis. Regulates apical junction formation in bronchial epithelial cells. {ECO:0000269|PubMed:16236794, ECO:0000269|PubMed:20974804}.;
- Pathway
- Spinal Cord Injury;VEGFA-VEGFR2 Signaling Pathway;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;RHO GTPases activate PKNs;RHO GTPases activate CIT;RHO GTPase Effectors;Signaling by Rho GTPases;Sema4D induced cell migration and growth-cone collapse;Sema4D in semaphorin signaling;CXCR4-mediated signaling events;Semaphorin interactions;Axon guidance;G alpha (12/13) signalling events;GPCR downstream signalling;p75(NTR)-mediated signaling;Signaling events mediated by PRL
(Consensus)
Recessive Scores
- pRec
- 0.188
Intolerance Scores
- loftool
- 0.309
- rvis_EVS
- -0.25
- rvis_percentile_EVS
- 35.42
Haploinsufficiency Scores
- pHI
- 0.395
- hipred
- Y
- hipred_score
- 0.503
- ghis
- 0.548
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.831
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rhoc
- Phenotype
- cellular phenotype; neoplasm;
Gene ontology
- Biological process
- mitotic cytokinesis;actin filament organization;G protein-coupled receptor signaling pathway;Rho protein signal transduction;regulation of cell shape;cell migration;regulation of cell migration;positive regulation of cell migration;establishment or maintenance of actin cytoskeleton polarity;positive regulation of protein homooligomerization;regulation of actin cytoskeleton organization;positive regulation of I-kappaB kinase/NF-kappaB signaling;apical junction assembly;wound healing, spreading of cells;actin filament bundle assembly;regulation of small GTPase mediated signal transduction;positive regulation of stress fiber assembly;positive regulation of lipase activity;skeletal muscle satellite cell migration
- Cellular component
- nucleus;cytoplasm;cytosol;plasma membrane;cell cortex;cell division site;cleavage furrow;stereocilium;intracellular membrane-bounded organelle;extracellular exosome
- Molecular function
- GTPase activity;protein binding;GTP binding;protein kinase binding