RIIAD1
Basic information
Region (hg38): 1:151710433-151729805
Previous symbols: [ "NCRNA00166", "C1orf230" ]
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 RIIAD1 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 | 5 | |||||
| nonsense | 0 | |||||
| start loss | 0 | |||||
| frameshift | 0 | |||||
| inframe indel | 0 | |||||
| splice donor/acceptor (+/-2bp) | 0 | |||||
| splice region | 0 | |||||
| non coding | 0 | |||||
| Total | 0 | 0 | 4 | 1 | 0 |
Variants in RIIAD1
This is a list of pathogenic ClinVar variants found in the RIIAD1 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
| Position | Type | Phenotype | Significance | ClinVar |
|---|---|---|---|---|
| 1-151714604-G-A | not specified | Uncertain significance (Mar 24, 2023) | ||
| 1-151715887-C-A | not specified | Uncertain significance (May 25, 2022) | ||
| 1-151721552-G-C | not specified | Uncertain significance (Dec 28, 2022) | ||
| 1-151721559-T-A | not specified | Uncertain significance (Oct 20, 2024) | ||
| 1-151721562-A-G | not specified | Uncertain significance (Mar 29, 2024) | ||
| 1-151721565-G-T | not specified | Uncertain significance (Feb 17, 2024) | ||
| 1-151721586-G-C | not specified | Uncertain significance (Feb 27, 2023) | ||
| 1-151721598-T-C | not specified | Uncertain significance (Apr 19, 2024) | ||
| 1-151722120-G-A | not specified | Uncertain significance (Aug 14, 2024) | ||
| 1-151722126-A-T | not specified | Uncertain significance (May 29, 2024) | ||
| 1-151722138-A-G | not specified | Uncertain significance (Apr 18, 2023) | ||
| 1-151728829-C-T | not specified | Likely benign (Dec 16, 2021) |
GnomAD
Source:
| Gene | Type | Bio Type | Transcript | Coding Exons | Length |
|---|---|---|---|---|---|
| RIIAD1 | protein_coding | protein_coding | ENST00000479191 | 4 | 19373 |
| pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
|---|---|---|---|---|---|---|
| 0.0000319 | 0.206 | 0 | 0 | 0 | 0 | 0.00 |
| Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
|---|---|---|---|---|---|---|
| Missense | 0.632 | 27 | 38.0 | 0.711 | 0.00000192 | 598 |
| Missense in Polyphen | 10 | 14.447 | 0.69217 | 185 | ||
| Synonymous | -0.0910 | 14 | 13.6 | 1.03 | 8.06e-7 | 169 |
| Loss of Function | -0.628 | 6 | 4.55 | 1.32 | 1.93e-7 | 68 |
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 | 0.00 | 0.00 |
| Other | 0.00 | 0.00 |
dbNSFP
Source:
- Pathway
- Endothelin Pathways
(Consensus)
Intolerance Scores
- loftool
- rvis_EVS
- 0.37
- rvis_percentile_EVS
- 74.76
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.114
Gene Damage Prediction
| All | Recessive | Dominant | |
|---|---|---|---|
| Mendelian | Medium | Medium | Medium |
| Primary Immunodeficiency | Medium | Medium | Medium |
| Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Riiad1
- 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); mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); behavior/neurological phenotype (the observable actions or reactions of mammalian organisms that are manifested through development and lifespan);