RNF217

ring finger protein 217, the group of Ring finger proteins|RBR E3 ubiquitin ligases

Basic information

Region (hg38): 6:124962436-125092633

Previous symbols: [ "C6orf172", "IBRDC1" ]

Links

ENSG00000146373 ∙ NCBI:154214 ∙ OMIM:618592 ∙ HGNC:21487 ∙ Uniprot:Q8TC41 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

No genCC data.

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the RNF217 gene.

• Inborn genetic diseases (8 variants)

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			8			8
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	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: gnomAD

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: dbNSFP

• 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

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