RHOJ
Basic information
Region (hg38): 14:63204114-63293508
Previous symbols: [ "RASL7B", "ARHJ" ]
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (24 variants)
- not_provided (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RHOJ gene is commonly pathogenic or not. These statistics are base on transcript: NM_000020663.5. 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 | 1 | |||||
| missense | 22 | 24 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| Total | 0 | 0 | 22 | 3 | 0 |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RHOJ | protein_coding | protein_coding | ENST00000316754 | 5 | 89106 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00640 | 0.919 | 125724 | 0 | 24 | 125748 | 0.0000954 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.484 | 115 | 131 | 0.881 | 0.00000757 | 1407 |
| Missense in Polyphen | 46 | 55.921 | 0.82259 | 594 | ||
| Synonymous | 0.781 | 45 | 52.2 | 0.863 | 0.00000347 | 396 |
| Loss of Function | 1.53 | 5 | 10.3 | 0.485 | 4.35e-7 | 126 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000186 | 0.000185 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.000109 | 0.000109 |
| Finnish | 0.000277 | 0.000277 |
| European (Non-Finnish) | 0.000115 | 0.000114 |
| Middle Eastern | 0.000109 | 0.000109 |
| South Asian | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: GTP-binding protein with GTPase activity. Elicits the formation of F-actin-rich structures in fibroblasts and is involved in the regulation of cell morphology (By similarity). {ECO:0000250}.;
- Pathway
- VEGFA-VEGFR2 Signaling Pathway;Insulin Signaling;Signal Transduction;Rho GTPase cycle;Signaling by Rho GTPases
(Consensus)
Recessive Scores
- pRec
- 0.358
Intolerance Scores
- loftool
- 0.657
- rvis_EVS
- -0.18
- rvis_percentile_EVS
- 39.95
Haploinsufficiency Scores
- pHI
- 0.517
- hipred
- N
- hipred_score
- 0.466
- ghis
- 0.618
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.935
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rhoj
- Phenotype
- neoplasm; 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); vision/eye phenotype; homeostasis/metabolism phenotype;
Gene ontology
- Biological process
- angiogenesis;endocytosis;actin filament organization;establishment or maintenance of cell polarity;Rho protein signal transduction;regulation of cell shape;regulation of endothelial cell migration;cell projection assembly;actin cytoskeleton organization;regulation of actin cytoskeleton organization;regulation of small GTPase mediated signal transduction;retina vasculature morphogenesis in camera-type eye;positive regulation of cell migration involved in sprouting angiogenesis;regulation of sprouting angiogenesis
- Cellular component
- cytoplasm;cytosol;plasma membrane;cell cortex;cell projection;extracellular exosome
- Molecular function
- GTPase activity;protein binding;GTP binding;protein kinase binding