RGS7
Basic information
Region (hg38): 1:240767635-241357374
Links
Phenotypes
GenCC
Source:
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (15 variants)
- not provided (5 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RGS7 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 | 4 | |||||
missense | 15 | 15 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region ? | 1 | 1 | ||||
non coding ? | 0 | |||||
Total | 0 | 0 | 15 | 2 | 2 |
Variants in RGS7
This is a list of pathogenic ClinVar variants found in the RGS7 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
1-240776206-G-C | Inborn genetic diseases | Uncertain significance (Apr 12, 2022) | ||
1-240776211-C-G | Benign (Oct 23, 2018) | |||
1-240800671-C-T | Likely benign (Jan 01, 2024) | |||
1-240801489-C-T | Inborn genetic diseases | Uncertain significance (Nov 30, 2022) | ||
1-240801493-C-G | Inborn genetic diseases | Uncertain significance (Mar 21, 2023) | ||
1-240801508-A-C | Inborn genetic diseases | Uncertain significance (Jun 01, 2023) | ||
1-240806305-G-T | Inborn genetic diseases | Uncertain significance (Oct 12, 2021) | ||
1-240811929-C-T | Likely benign (May 17, 2018) | |||
1-240813625-C-G | Inborn genetic diseases | Uncertain significance (Dec 14, 2022) | ||
1-240814771-A-G | Inborn genetic diseases | Uncertain significance (Jun 29, 2023) | ||
1-240827155-T-C | Benign (Dec 31, 2019) | |||
1-240868599-C-T | Benign (Dec 31, 2019) | |||
1-240870084-C-G | Inborn genetic diseases | Uncertain significance (Sep 22, 2021) | ||
1-240870091-T-G | Inborn genetic diseases | Uncertain significance (Sep 27, 2021) | ||
1-240870094-C-G | Inborn genetic diseases | Uncertain significance (Sep 22, 2021) | ||
1-240870097-T-C | Likely benign (Aug 13, 2018) | |||
1-240870101-C-G | Inborn genetic diseases | Uncertain significance (Sep 22, 2021) | ||
1-240936617-T-C | Inborn genetic diseases | Uncertain significance (Dec 15, 2022) | ||
1-241098707-G-A | Inborn genetic diseases | Uncertain significance (Dec 06, 2021) | ||
1-241098716-G-A | Inborn genetic diseases | Uncertain significance (Nov 10, 2022) | ||
1-241098753-C-T | Inborn genetic diseases | Uncertain significance (Aug 17, 2021) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RGS7 | protein_coding | protein_coding | ENST00000366565 | 17 | 588977 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.777 | 0.223 | 125738 | 0 | 9 | 125747 | 0.0000358 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 2.47 | 155 | 269 | 0.576 | 0.0000153 | 3221 |
Missense in Polyphen | 76 | 144.08 | 0.5275 | 1712 | ||
Synonymous | 0.00305 | 99 | 99.0 | 1.00 | 0.00000645 | 842 |
Loss of Function | 4.46 | 7 | 35.8 | 0.196 | 0.00000173 | 419 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000868 | 0.0000868 |
Ashkenazi Jewish | 0.0000992 | 0.0000992 |
East Asian | 0.00 | 0.00 |
Finnish | 0.00 | 0.00 |
European (Non-Finnish) | 0.0000352 | 0.0000352 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.0000328 | 0.0000327 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: Regulates G protein-coupled receptor signaling cascades. Inhibits signal transduction by increasing the GTPase activity of G protein alpha subunits, thereby driving them into their inactive GDP-bound form (PubMed:10521509, PubMed:10862767). The RGS7/GNB5 dimer enhances GNAO1 GTPase activity (PubMed:10521509). May play a role in synaptic vesicle exocytosis (PubMed:12659861). Modulates the activity of potassium channels that are activated by GNAO1 in response to muscarinic acetylcholine receptor M2/CHRM2 signaling (PubMed:15897264). {ECO:0000269|PubMed:10521509, ECO:0000269|PubMed:10862767, ECO:0000269|PubMed:15897264, ECO:0000305|PubMed:12659861}.;
- Pathway
- Myometrial Relaxation and Contraction Pathways;Calcium Regulation in the Cardiac Cell;Signaling by GPCR;Cooperation of PDCL (PhLP1) and TRiC/CCT in G-protein beta folding;Signal Transduction;Metabolism of proteins;GPCR signaling-G alpha q;GPCR signaling-cholera toxin;GPCR signaling-pertussis toxin;Chaperonin-mediated protein folding;GPCR signaling-G alpha s Epac and ERK;GPCR signaling-G alpha s PKA and ERK;Protein folding;G alpha (i) signalling events;GPCR signaling-G alpha i;GPCR downstream signalling
(Consensus)
Recessive Scores
- pRec
- 0.134
Intolerance Scores
- loftool
- 0.347
- rvis_EVS
- -0.47
- rvis_percentile_EVS
- 23.04
Haploinsufficiency Scores
- pHI
- 0.944
- hipred
- Y
- hipred_score
- 0.784
- ghis
- 0.647
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.855
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rgs7
- Phenotype
- vision/eye phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan); homeostasis/metabolism phenotype; growth/size/body region phenotype;
Gene ontology
- Biological process
- protein folding;G protein-coupled receptor signaling pathway;negative regulation of signal transduction;intracellular signal transduction;positive regulation of GTPase activity
- Cellular component
- cytosol;plasma membrane
- Molecular function
- GTPase activator activity;G-protein beta-subunit binding