RNF115

ring finger protein 115, the group of Ring finger proteins

Basic information

Region (hg38): 1:145738868-145824095

Previous symbols: [ "ZNF364" ]

Links

ENSG00000265491 ∙ NCBI:27246 ∙ OMIM:619535 ∙ HGNC:18154 ∙ Uniprot:Q9Y4L5 ∙ 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 RNF115 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF115 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			18			18
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	18	0	0

Variants in RNF115

This is a list of pathogenic ClinVar variants found in the RNF115 region.

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

Position	Type	Phenotype	Significance	ClinVar
1-145746877-A-G		not specified	Uncertain significance (Jun 18, 2024)
1-145746886-G-A		not specified	Uncertain significance (May 26, 2023)
1-145746955-C-T		not specified	Uncertain significance (Sep 16, 2021)
1-145748008-G-A		not specified	Uncertain significance (Sep 25, 2023)
1-145748045-G-C		not specified	Uncertain significance (May 09, 2022)
1-145748105-C-G		not specified	Uncertain significance (Dec 01, 2022)
1-145748107-A-G		not specified	Likely benign (Apr 16, 2024)
1-145748107-A-T		not specified	Uncertain significance (Oct 25, 2022)
1-145751442-G-A		not specified	Uncertain significance (Apr 23, 2024)
1-145751493-G-A		not specified	Uncertain significance (Nov 16, 2021)
1-145751506-C-T		not specified	Uncertain significance (May 17, 2023)
1-145752982-A-C		not specified	Uncertain significance (Jul 09, 2021)
1-145771718-T-C		not specified	Uncertain significance (Oct 27, 2022)
1-145771721-C-T		not specified	Uncertain significance (Oct 18, 2021)
1-145771738-C-T		not specified	Uncertain significance (Apr 07, 2023)
1-145771768-C-A		not specified	Uncertain significance (Dec 13, 2023)
1-145771849-T-C		not specified	Uncertain significance (Aug 17, 2022)
1-145784571-T-A		not specified	Uncertain significance (Feb 13, 2024)
1-145788960-T-G		not specified	Uncertain significance (Oct 17, 2023)
1-145823789-C-T		not specified	Uncertain significance (Dec 12, 2023)
1-145823794-C-T		not specified	Uncertain significance (Jan 20, 2023)
1-145823828-C-T		not specified	Uncertain significance (Jun 18, 2024)

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase that mediates E2-dependent, 'Lys-48'- and/or 'Lys-63'-linked polyubiquitination of substrates and may play a role in diverse biological processes. Through their polyubiquitination, may play a role in the endosomal trafficking and degradation of membrane receptors including EGFR, FLT3, MET and CXCR4. {ECO:0000269|PubMed:16288031, ECO:0000269|PubMed:18819927, ECO:0000303|PubMed:23418353}.
• Pathway: Immune System;Adaptive Immune System;Antigen processing: Ubiquitination & Proteasome degradation;Class I MHC mediated antigen processing & presentation (Consensus)

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.495
• rvis_EVS: -0.1
• rvis_percentile_EVS: 46.49

Haploinsufficiency Scores

• pHI: 0.494
• hipred: N
• hipred_score: 0.328
• ghis: 0.431

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.542

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf115

Gene ontology

• Biological process: protein polyubiquitination;protein ubiquitination;negative regulation of epidermal growth factor receptor signaling pathway;ubiquitin-dependent protein catabolic process via the multivesicular body sorting pathway;protein autoubiquitination;protein K63-linked ubiquitination;protein K48-linked ubiquitination
• Cellular component: cytoplasm;cytosol
• Molecular function: ubiquitin-protein transferase activity;protein binding;metal ion binding;ubiquitin protein ligase activity