RGS18
regulator of G protein signaling 18, the group of Regulators of G-protein signaling
Basic information
Region (hg38): 1:192158462-192185815
Links
Phenotypes
GenCC
Source:
No genCC data.
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 RGS18 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 | 15 | 16 | ||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 15 | 1 | 0 |
Variants in RGS18
This is a list of pathogenic ClinVar variants found in the RGS18 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-192158644-A-C | not specified | Uncertain significance (Jan 23, 2023) | ||
| 1-192158650-T-G | not specified | Uncertain significance (Mar 30, 2024) | ||
| 1-192159251-C-G | not specified | Uncertain significance (Sep 14, 2023) | ||
| 1-192159282-C-A | not specified | Uncertain significance (Jan 20, 2025) | ||
| 1-192159284-C-T | not specified | Likely benign (Dec 03, 2024) | ||
| 1-192159287-T-C | not specified | Uncertain significance (Mar 12, 2024) | ||
| 1-192160407-G-A | not specified | Uncertain significance (Aug 11, 2021) | ||
| 1-192160423-A-T | not specified | Uncertain significance (Jun 24, 2022) | ||
| 1-192181322-A-C | not specified | Uncertain significance (Jan 23, 2025) | ||
| 1-192181379-A-G | not specified | Uncertain significance (Oct 12, 2022) | ||
| 1-192181424-A-T | not specified | Uncertain significance (Feb 13, 2025) | ||
| 1-192181447-G-A | not specified | Uncertain significance (Oct 02, 2023) | ||
| 1-192184320-A-C | not specified | Uncertain significance (Jan 21, 2025) | ||
| 1-192184403-A-T | not specified | Uncertain significance (Dec 06, 2022) | ||
| 1-192184406-A-G | not specified | Uncertain significance (May 16, 2024) | ||
| 1-192184462-C-A | not specified | Uncertain significance (Jan 08, 2024) | ||
| 1-192184489-C-G | not specified | Uncertain significance (Aug 14, 2023) | ||
| 1-192184496-G-A | not specified | Uncertain significance (Jul 30, 2024) | ||
| 1-192184538-T-A | not specified | Uncertain significance (Apr 11, 2023) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RGS18 | protein_coding | protein_coding | ENST00000367460 | 5 | 27359 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.00149 | 0.887 | 125730 | 0 | 10 | 125740 | 0.0000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | -0.0891 | 119 | 116 | 1.02 | 0.00000556 | 1555 |
| Missense in Polyphen | 34 | 39.424 | 0.86241 | 516 | ||
| Synonymous | 0.597 | 32 | 36.6 | 0.874 | 0.00000157 | 401 |
| Loss of Function | 1.38 | 6 | 10.9 | 0.549 | 5.57e-7 | 148 |
LoF frequencies by population
| Ethnicity | Sum of pLOFs | p |
|---|---|---|
| African & African-American | 0.000169 | 0.000169 |
| Ashkenazi Jewish | 0.00 | 0.00 |
| East Asian | 0.0000545 | 0.0000544 |
| Finnish | 0.00 | 0.00 |
| European (Non-Finnish) | 0.0000356 | 0.0000352 |
| Middle Eastern | 0.0000545 | 0.0000544 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits thereby driving them into their inactive GDP-bound form. Binds to G(i) alpha-1, G(i) alpha- 2, G(i) alpha-3 and G(q) alpha. {ECO:0000269|PubMed:11042171, ECO:0000269|PubMed:11955952}.;
- Pathway
- Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Signal Transduction;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;G alpha (i) signalling events;GPCR signaling-G alpha i;G alpha (q) signalling events;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.105
Intolerance Scores
- loftool
- 0.596
- rvis_EVS
- 0.33
- rvis_percentile_EVS
- 73.11
Haploinsufficiency Scores
- pHI
- 0.262
- hipred
- N
- hipred_score
- 0.480
- ghis
- 0.437
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.637
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rgs18
- Phenotype
- hematopoietic system phenotype; behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); cellular phenotype; homeostasis/metabolism phenotype; integument phenotype (the observable morphological and physiological characteristics of the skin and its associated structures, such as the hair, nails, sweat glands, sebaceous glands and other secretory glands that are manifested through development and lifespan);
Zebrafish Information Network
- Gene name
- rgs18
- Affected structure
- thrombocyte
- Phenotype tag
- abnormal
- Phenotype quality
- decreased amount
Gene ontology
- Biological process
- G protein-coupled receptor signaling pathway;regulation of G protein-coupled receptor signaling pathway;negative regulation of signal transduction;positive regulation of GTPase activity
- Cellular component
- cytoplasm
- Molecular function
- GTPase activator activity;protein binding