RHOQ
Basic information
Region (hg38): 2:46541806-46584688
Previous symbols: [ "RASL7A", "ARHQ" ]
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 RHOQ 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 | 8 | |||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 5 | |||||
Total | 0 | 0 | 13 | 0 | 0 |
Variants in RHOQ
This is a list of pathogenic ClinVar variants found in the RHOQ region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
2-46543072-T-A | not specified | Uncertain significance (Mar 15, 2024) | ||
2-46543114-C-T | not specified | Uncertain significance (Sep 13, 2023) | ||
2-46543766-T-A | not specified | Uncertain significance (Oct 18, 2021) | ||
2-46576100-G-A | not specified | Uncertain significance (Dec 16, 2023) | ||
2-46576594-A-G | not specified | Uncertain significance (May 09, 2023) | ||
2-46576621-A-G | not specified | Uncertain significance (Apr 20, 2024) | ||
2-46580947-T-C | not specified | Uncertain significance (Aug 16, 2021) | ||
2-46581025-A-G | not specified | Uncertain significance (Jun 29, 2022) | ||
2-46581028-A-T | not specified | Uncertain significance (Dec 12, 2023) | ||
2-46581079-C-T | not specified | Uncertain significance (Apr 12, 2024) | ||
2-46581482-T-C | not specified | Uncertain significance (Dec 08, 2023) | ||
2-46581484-G-T | not specified | Uncertain significance (Sep 01, 2021) | ||
2-46581519-T-A | not specified | Uncertain significance (May 17, 2023) | ||
2-46581520-C-A | not specified | Uncertain significance (May 17, 2023) | ||
2-46581549-C-T | not specified | Uncertain significance (Aug 16, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RHOQ | protein_coding | protein_coding | ENST00000238738 | 5 | 41316 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.857 | 0.143 | 125740 | 0 | 7 | 125747 | 0.0000278 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.31 | 74 | 113 | 0.653 | 0.00000553 | 1315 |
Missense in Polyphen | 21 | 45.545 | 0.46109 | 546 | ||
Synonymous | -1.95 | 61 | 44.5 | 1.37 | 0.00000236 | 391 |
Loss of Function | 2.76 | 1 | 10.8 | 0.0930 | 5.37e-7 | 135 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000630 | 0.0000615 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000554 | 0.0000544 |
Finnish | 0.0000933 | 0.0000924 |
European (Non-Finnish) | 0.0000274 | 0.0000264 |
Middle Eastern | 0.0000554 | 0.0000544 |
South Asian | 0.00 | 0.00 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Plasma membrane-associated small GTPase which cycles between an active GTP-bound and an inactive GDP-bound state. In active state binds to a variety of effector proteins to regulate cellular responses. Involved in epithelial cell polarization processes. May play a role in CFTR trafficking to the plasma membrane. Causes the formation of thin, actin-rich surface projections called filopodia. {ECO:0000269|PubMed:15546864}.;
- Pathway
- Insulin signaling pathway - Homo sapiens (human);Angiopoietin Like Protein 8 Regulatory Pathway;Insulin Signaling;Signal Transduction;Rho GTPase cycle;RHO GTPases regulate CFTR trafficking;RHO GTPase Effectors;Signaling by Rho GTPases;Insulin Pathway;Insulin-mediated glucose transport
(Consensus)
Recessive Scores
- pRec
- 0.194
Intolerance Scores
- loftool
- 0.290
- rvis_EVS
- -0.16
- rvis_percentile_EVS
- 41.25
Haploinsufficiency Scores
- pHI
- 0.110
- hipred
- Y
- hipred_score
- 0.599
- ghis
- 0.602
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.591
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rhoq
- Phenotype
Gene ontology
- Biological process
- endocytosis;actin filament organization;establishment or maintenance of cell polarity;Rho protein signal transduction;insulin receptor signaling pathway;regulation of cell shape;cell projection assembly;actin cytoskeleton organization;cortical actin cytoskeleton organization;cellular response to insulin stimulus;regulation of actin cytoskeleton organization;positive regulation of transcription by RNA polymerase II;GTP metabolic process;positive regulation of glucose import;regulation of small GTPase mediated signal transduction;positive regulation of filopodium assembly;negative regulation of protein localization to plasma membrane
- Cellular component
- cytoplasm;cytosol;actin filament;plasma membrane;cell cortex;Golgi-associated vesicle membrane;cell projection;membrane raft;extracellular exosome
- Molecular function
- GTPase activity;profilin binding;GTP binding;protein kinase binding;GBD domain binding