RNF215

ring finger protein 215, the group of Ring finger proteins

Basic information

Region (hg38): 22:30368810-30421771

Links

ENSG00000099999 ∙ NCBI:200312 ∙ ∙ HGNC:33434 ∙ Uniprot:Q9Y6U7 ∙ 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 RNF215 gene.

• Inborn genetic diseases (22 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF215 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			21	1		22
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	21	1	0

Variants in RNF215

This is a list of pathogenic ClinVar variants found in the RNF215 region.

You can filter this list by clicking the number of variants in the Variants pathogenicity by type table.

Position	Type	Phenotype	Significance	ClinVar
22-30369544-C-T		not specified	Uncertain significance (Jun 18, 2021)
22-30369548-G-A		not specified	Uncertain significance (Aug 14, 2023)
22-30369570-G-C		not specified	Uncertain significance (Jan 05, 2022)
22-30369593-C-T		not specified	Uncertain significance (May 05, 2022)
22-30370357-C-A		not specified	Uncertain significance (Apr 22, 2022)
22-30370377-G-A		not specified	Uncertain significance (Aug 13, 2021)
22-30370455-T-C		not specified	Uncertain significance (Dec 22, 2023)
22-30370507-C-T		not specified	Uncertain significance (Jul 15, 2021)
22-30370709-G-A			Likely benign (Apr 01, 2023)
22-30370737-G-A		not specified	Uncertain significance (Jul 11, 2023)
22-30370758-C-T		not specified	Uncertain significance (Oct 04, 2022)
22-30370803-G-A		not specified	Uncertain significance (Feb 28, 2023)
22-30370854-G-A		not specified	Uncertain significance (Dec 06, 2021)
22-30372105-G-C		not specified	Likely benign (Mar 12, 2024)
22-30372111-G-A		not specified	Uncertain significance (Jan 30, 2024)
22-30372180-A-C		not specified	Uncertain significance (Mar 29, 2022)
22-30372204-G-C		not specified	Uncertain significance (Nov 08, 2022)
22-30372234-C-G		not specified	Uncertain significance (Aug 08, 2023)
22-30372234-C-T		not specified	Uncertain significance (Oct 06, 2022)
22-30373604-A-G		not specified	Uncertain significance (Feb 05, 2024)
22-30373634-T-G		not specified	Uncertain significance (Jan 30, 2024)
22-30373655-G-A		not specified	Uncertain significance (Dec 21, 2022)
22-30373681-G-A		not specified	Uncertain significance (Apr 08, 2022)
22-30373697-G-A		not specified	Uncertain significance (Dec 16, 2022)
22-30373710-G-C		not specified	Uncertain significance (Jul 27, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF215	protein_coding	protein_coding	ENST00000382363	9	43926

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
1.87e-9	0.237	125703	0	44	125747	0.000175

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.500	179	199	0.900	0.0000126	2325
Missense in Polyphen		59	68.379	0.86283		757
Synonymous	0.492	85	91.0	0.934	0.00000573	844
Loss of Function	0.615	15	17.8	0.843	8.47e-7	190

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000295	0.000293
Ashkenazi Jewish	0.000703	0.000695
East Asian	0.000164	0.000163
Finnish	0.00	0.00
European (Non-Finnish)	0.000150	0.000149
Middle Eastern	0.000164	0.000163
South Asian	0.000229	0.000229
Other	0.000163	0.000163

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.658
• rvis_EVS: 0.22
• rvis_percentile_EVS: 68.27

Haploinsufficiency Scores

• pHI: 0.170
• hipred: N
• hipred_score: 0.344
• ghis: 0.518

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.440

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium

Mouse Genome Informatics

• Gene name: Rnf215

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;protein ubiquitination
• Cellular component: late endosome;Golgi apparatus;integral component of membrane
• Molecular function: metal ion binding;ubiquitin protein ligase activity