RNF215

ring finger protein 215, the group of Ring finger proteins

Basic information

Region (hg38): 22:30368811-30421771

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.

• not_specified (55 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. These statistics are base on transcript: NM_001017981.2. 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	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			53	2		55
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	53	2	0

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