RRAD
RRAD, Ras related glycolysis inhibitor and calcium channel regulator, the group of RGK type GTPase family
Basic information
Region (hg38): 16:66921678-66925536
Links
Phenotypes
GenCC
Source:
- Brugada syndrome (Limited), mode of inheritance: AD
ClinVar
This is a list of variants' phenotypes submitted to
- Inborn genetic diseases (7 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RRAD gene is commonly pathogenic or not.
Variant type | Pathogenic | Likely pathogenic | VUS | Likely benign | Benign | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 7 | 7 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice variant | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 7 | 0 | 0 |
Variants in RRAD
This is a list of pathogenic ClinVar variants found in the RRAD region.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
16-66922086-G-A | Inborn genetic diseases | Uncertain significance (Feb 07, 2023) | ||
16-66922091-G-T | Inborn genetic diseases | Uncertain significance (Mar 23, 2023) | ||
16-66922152-C-T | Inborn genetic diseases | Uncertain significance (Aug 02, 2021) | ||
16-66922302-G-A | Inborn genetic diseases | Uncertain significance (May 02, 2023) | ||
16-66924885-C-A | Inborn genetic diseases | Uncertain significance (Aug 02, 2021) | ||
16-66924958-C-G | Inborn genetic diseases | Uncertain significance (Jul 17, 2023) | ||
16-66925016-G-T | Inborn genetic diseases | Uncertain significance (Aug 17, 2022) | ||
16-66925025-G-A | Inborn genetic diseases | Uncertain significance (Jun 27, 2022) | ||
16-66925060-C-T | Inborn genetic diseases | Uncertain significance (Dec 16, 2022) | ||
16-66925145-C-G | Inborn genetic diseases | Uncertain significance (Aug 09, 2021) | ||
16-66925158-T-C | Inborn genetic diseases | Uncertain significance (Jan 18, 2022) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RRAD | protein_coding | protein_coding | ENST00000299759 | 4 | 3966 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.439 | 0.555 | 125740 | 0 | 8 | 125748 | 0.0000318 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.11 | 142 | 184 | 0.770 | 0.0000130 | 1942 |
Missense in Polyphen | 76 | 91.951 | 0.82653 | 868 | ||
Synonymous | 1.22 | 62 | 75.4 | 0.822 | 0.00000489 | 671 |
Loss of Function | 2.30 | 2 | 9.74 | 0.205 | 5.01e-7 | 117 |
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 | 0.0000462 | 0.0000462 |
European (Non-Finnish) | 0.0000176 | 0.0000176 |
Middle Eastern | 0.00 | 0.00 |
South Asian | 0.000131 | 0.000131 |
Other | 0.000163 | 0.000163 |
dbNSFP
Source:
- Function
- FUNCTION: May play an important role in cardiac antiarrhythmia via the strong suppression of voltage-gated L-type Ca(2+) currents. Regulates voltage-dependent L-type calcium channel subunit alpha- 1C trafficking to the cell membrane (By similarity). Inhibits cardiac hypertrophy through the calmodulin-dependent kinase II (CaMKII) pathway. Inhibits phosphorylation and activation of CAMK2D. {ECO:0000250, ECO:0000269|PubMed:18056528}.;
- Pathway
- Insulin Signaling;Validated transcriptional targets of deltaNp63 isoforms
(Consensus)
Recessive Scores
- pRec
- 0.343
Intolerance Scores
- loftool
- 0.278
- rvis_EVS
- -0.36
- rvis_percentile_EVS
- 28.63
Haploinsufficiency Scores
- pHI
- 0.403
- hipred
- Y
- hipred_score
- 0.686
- ghis
- 0.500
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- E
- gene_indispensability_score
- 0.687
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rrad
- Phenotype
- homeostasis/metabolism phenotype; muscle phenotype; 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);
Gene ontology
- Biological process
- small GTPase mediated signal transduction;negative regulation of high voltage-gated calcium channel activity
- Cellular component
- plasma membrane
- Molecular function
- GTPase activity;calcium channel regulator activity;protein binding;calmodulin binding;GTP binding