RRAD
Basic information
Region (hg38): 16:66921685-66925535
Links
Phenotypes
GenCC
Source:
- Brugada syndrome (Limited), mode of inheritance: AD
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 RRAD 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 | 15 | ||||
| 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 | 0 | 0 |
Variants in RRAD
This is a list of pathogenic ClinVar variants found in the RRAD region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 16-66922086-G-A | not specified | Uncertain significance (Feb 07, 2023) | ||
| 16-66922091-G-T | not specified | Uncertain significance (Mar 23, 2023) | ||
| 16-66922134-C-T | not specified | Uncertain significance (Oct 06, 2023) | ||
| 16-66922152-C-T | not specified | Uncertain significance (Aug 02, 2021) | ||
| 16-66922302-G-A | not specified | Uncertain significance (May 02, 2023) | ||
| 16-66923710-C-T | not specified | Uncertain significance (Dec 15, 2023) | ||
| 16-66923904-C-T | not specified | Uncertain significance (Nov 17, 2023) | ||
| 16-66924855-G-C | not specified | Uncertain significance (Mar 20, 2024) | ||
| 16-66924885-C-A | not specified | Uncertain significance (Aug 02, 2021) | ||
| 16-66924958-C-G | not specified | Uncertain significance (Jul 17, 2023) | ||
| 16-66925016-G-T | not specified | Uncertain significance (Aug 17, 2022) | ||
| 16-66925025-G-A | not specified | Uncertain significance (Jun 27, 2022) | ||
| 16-66925060-C-T | not specified | Uncertain significance (Dec 16, 2022) | ||
| 16-66925140-G-C | not specified | Uncertain significance (Jan 23, 2024) | ||
| 16-66925145-C-G | not specified | Uncertain significance (Aug 09, 2021) | ||
| 16-66925158-T-C | not specified | 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