RNF217
Basic information
Region (hg38): 6:124962437-125092633
Previous symbols: [ "C6orf172", "IBRDC1" ]
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 RNF217 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 | 11 | 11 | ||||
nonsense | 0 | |||||
start loss | 0 | |||||
frameshift | 0 | |||||
inframe indel | 0 | |||||
splice donor/acceptor (+/-2bp) | 0 | |||||
splice region | 0 | |||||
non coding | 0 | |||||
Total | 0 | 0 | 11 | 0 | 0 |
Variants in RNF217
This is a list of pathogenic ClinVar variants found in the RNF217 region.
You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.
Position | Type | Phenotype | Significance | ClinVar |
---|---|---|---|---|
6-125045244-A-C | not specified | Uncertain significance (Sep 27, 2022) | ||
6-125045341-G-A | not specified | Uncertain significance (Sep 14, 2022) | ||
6-125045343-A-G | not specified | Uncertain significance (Jan 03, 2024) | ||
6-125045395-A-C | not specified | Uncertain significance (Dec 03, 2021) | ||
6-125045404-G-T | not specified | Uncertain significance (May 10, 2022) | ||
6-125057951-C-T | not specified | Uncertain significance (Mar 01, 2023) | ||
6-125057990-C-G | not specified | Uncertain significance (Jun 05, 2023) | ||
6-125058041-T-A | not specified | Uncertain significance (Feb 05, 2024) | ||
6-125076660-C-G | not specified | Uncertain significance (May 17, 2023) | ||
6-125076745-G-A | Multiple sclerosis, susceptibility to | risk factor (-) | ||
6-125076756-T-C | not specified | Uncertain significance (Nov 09, 2022) | ||
6-125082473-A-T | not specified | Uncertain significance (Feb 28, 2023) |
GnomAD
Source:
Gene | Type | Bio Type | Transcript | Coding Exons | Length |
---|---|---|---|---|---|
RNF217 | protein_coding | protein_coding | ENST00000359704 | 7 | 130089 |
pLI Probability LOF Intolerant | pRec Probability LOF Recessive | Individuals with no LOFs | Individuals with Homozygous LOFs | Individuals with Heterozygous LOFs | Defined | p |
---|---|---|---|---|---|---|
0.0000202 | 0.905 | 125661 | 0 | 18 | 125679 | 0.0000716 |
Z-Score | Observed | Expected | Observed/Expected | Mutation Rate | Total Possible in Transcript | |
---|---|---|---|---|---|---|
Missense | 1.31 | 101 | 146 | 0.694 | 0.00000733 | 1801 |
Missense in Polyphen | 38 | 66.25 | 0.57358 | 811 | ||
Synonymous | -0.565 | 56 | 50.9 | 1.10 | 0.00000252 | 480 |
Loss of Function | 1.57 | 10 | 17.0 | 0.588 | 9.86e-7 | 205 |
LoF frequencies by population
Ethnicity | Sum of pLOFs | p |
---|---|---|
African & African-American | 0.0000290 | 0.0000290 |
Ashkenazi Jewish | 0.00 | 0.00 |
East Asian | 0.0000544 | 0.0000544 |
Finnish | 0.000186 | 0.000185 |
European (Non-Finnish) | 0.0000536 | 0.0000528 |
Middle Eastern | 0.0000544 | 0.0000544 |
South Asian | 0.000196 | 0.000196 |
Other | 0.00 | 0.00 |
dbNSFP
Source:
- Function
- FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from E2 ubiquitin-conjugating enzymes in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. {ECO:0000250}.;
- Pathway
- Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation
(Consensus)
Intolerance Scores
- loftool
- 0.743
- rvis_EVS
- 0.33
- rvis_percentile_EVS
- 73.41
Haploinsufficiency Scores
- pHI
- 0.0286
- hipred
- Y
- hipred_score
- 0.506
- ghis
- 0.450
Essentials
- essential_gene_CRISPR
- N
- essential_gene_CRISPR2
- N
- essential_gene_gene_trap
- N
- gene_indispensability_pred
- N
- gene_indispensability_score
- 0.267
Gene Damage Prediction
All | Recessive | Dominant | |
---|---|---|---|
Mendelian | Medium | Medium | Medium |
Primary Immunodeficiency | Medium | Medium | Medium |
Cancer | Medium | Medium | Medium |
Mouse Genome Informatics
- Gene name
- Rnf217
- Phenotype
Gene ontology
- Biological process
- protein polyubiquitination;ubiquitin-dependent protein catabolic process;positive regulation of proteasomal ubiquitin-dependent protein catabolic process
- Cellular component
- ubiquitin ligase complex;cytoplasm;cytosol;integral component of membrane
- Molecular function
- ubiquitin-protein transferase activity;ubiquitin conjugating enzyme binding;metal ion binding;ubiquitin protein ligase activity