RIC3
Basic information
Region (hg38): 11:8106056-8169055
Links
Phenotypes
GenCC
Source:
- Parkinson disease (Limited), mode of inheritance: AD
- movement disorder (Limited), mode of inheritance: AR
ClinVar
This is a list of variants' phenotypes submitted to
- not_specified (44 variants)
- not_provided (5 variants)
- RIC3-related_disorder (1 variants)
Variants pathogenicity by type
Statistics on ClinVar variants can assist in determining whether a specific variant type in the RIC3 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001206671.4. Only rare variants are included in the table.
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.
Effect | PathogenicP | Likely pathogenicLP | VUSVUS | Likely benignLB | BenignB | Sum |
---|---|---|---|---|---|---|
synonymous | 0 | |||||
missense | 44 | 48 | ||||
nonsense | 1 | |||||
start loss | 0 | |||||
frameshift | 1 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
Total | 0 | 0 | 46 | 3 | 1 |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RIC3 | protein_coding | protein_coding | ENST00000309737 | 6 | 63006 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.00000214 | 0.723 | 125709 | 0 | 39 | 125748 | 0.000155 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | -0.640 | 220 | 195 | 1.13 | 0.00000954 | 2397 |
Missense in Polyphen | 71 | 71.182 | 0.99744 | 897 | ||
Synonymous | -1.74 | 90 | 71.3 | 1.26 | 0.00000363 | 712 |
Loss of Function | 1.16 | 11 | 16.0 | 0.687 | 8.50e-7 | 200 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.000330 | 0.000329 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.0000924 | 0.0000924 |
European (Non-Finnish) | 0.000142 | 0.000141 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000329 | 0.000327 |
Other | 0.000330 | 0.000326 |
dbNSFP
Source:
- Function
- FUNCTION: Promotes functional expression of homomeric alpha-7 and alpha-8 nicotinic acetylcholine receptors at the cell surface. May also promote functional expression of homomeric serotoninergic 5- HT3 receptors, and of heteromeric acetylcholine receptors alpha- 3/beta-2, alpha-3/beta-4, alpha-4/beta-2 and alpha-4/beta-4. {ECO:0000269|PubMed:12821669, ECO:0000269|PubMed:15504725, ECO:0000269|PubMed:15809299, ECO:0000269|PubMed:15927954, ECO:0000269|PubMed:16120769, ECO:0000269|PubMed:17609200, ECO:0000269|PubMed:18691158}.;
Recessive Scores
- pRec
- 0.103
Intolerance Scores
- loftool
- 0.385
- rvis_EVS
- 1.62
- rvis_percentile_EVS
- 96
Haploinsufficiency Scores
- pHI
- 0.0974
- hipred
- N
- hipred_score
- 0.306
- ghis
- 0.449
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.275
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Ric3
- Phenotype
Gene ontology
- Biological process
- protein folding;positive regulation of cytosolic calcium ion concentration;synaptic transmission, cholinergic;protein localization to cell surface;cellular protein-containing complex assembly
- Cellular component
- Golgi membrane;endoplasmic reticulum membrane;integral component of membrane;neuron projection;neuronal cell body;intracellular membrane-bounded organelle
- Molecular function
- acetylcholine receptor binding;protein folding chaperone