RGS8
Basic information
Region (hg38): 1:182641816-182684587
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 RGS8 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 | 9 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 9 | 0 | 0 |
Variants in RGS8
This is a list of pathogenic ClinVar variants found in the RGS8 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-182646777-C-G | not specified | Uncertain significance (Jun 09, 2022) | ||
| 1-182646876-G-T | not specified | Uncertain significance (Oct 16, 2023) | ||
| 1-182648141-C-T | not specified | Uncertain significance (Oct 04, 2022) | ||
| 1-182648199-T-C | not specified | Uncertain significance (May 10, 2022) | ||
| 1-182648213-G-A | Benign (Jul 01, 2024) | |||
| 1-182648245-T-A | not specified | Uncertain significance (Jan 04, 2022) | ||
| 1-182666015-T-A | not specified | Uncertain significance (Dec 14, 2023) | ||
| 1-182666938-G-C | not specified | Uncertain significance (Apr 01, 2024) | ||
| 1-182666970-G-T | not specified | Uncertain significance (Nov 15, 2021) | ||
| 1-182671676-T-C | not specified | Uncertain significance (Feb 23, 2023) | ||
| 1-182671717-C-T | not specified | Uncertain significance (Nov 08, 2022) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RGS8 | protein_coding | protein_coding | ENST00000258302 | 6 | 38473 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.302 | 0.695 | 125695 | 0 | 1 | 125696 | 0.00000398 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 1.28 | 72 | 110 | 0.657 | 0.00000583 | 1304 |
| Missense in Polyphen | 17 | 34.678 | 0.49023 | 418 | ||
| Synonymous | 0.0818 | 42 | 42.7 | 0.984 | 0.00000228 | 371 |
| Loss of Function | 2.50 | 3 | 12.6 | 0.239 | 7.48e-7 | 130 |
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) | 0.00 | 0.00 |
| Middle Eastern | 0.00 | 0.00 |
| South Asian | 0.0000327 | 0.0000327 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates G protein-coupled receptor signaling cascades, including signaling via muscarinic acetylcholine receptor CHRM2 and dopamine receptor DRD2 (By similarity). Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:18434541). Modulates the activity of potassium channels that are activated in response to DRD2 and CHRM2 signaling (By similarity). {ECO:0000250|UniProtKB:P49804, ECO:0000269|PubMed:18434541}.;
- Pathway
- 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;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.113
Intolerance Scores
- loftool
- 0.498
- rvis_EVS
- 0.3
- rvis_percentile_EVS
- 72.01
Haploinsufficiency Scores
- pHI
- 0.676
- hipred
- Y
- hipred_score
- 0.796
- ghis
- 0.468
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.371
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rgs8
- Phenotype
Gene ontology
- Biological process
- G protein-coupled acetylcholine receptor signaling pathway;negative regulation of signal transduction;positive regulation of GTPase activity;regulation of dopamine receptor signaling pathway
- Cellular component
- nucleus;dendrite;extrinsic component of cytoplasmic side of plasma membrane;neuronal cell body membrane;perikaryon
- Molecular function
- GTPase activator activity;protein binding