RNF175

ring finger protein 175, the group of Ring finger proteins

Basic information

Region (hg38): 4:153710159-153760024

Links

ENSG00000145428 ∙ NCBI:285533 ∙ ∙ HGNC:27735 ∙ Uniprot:Q8N4F7 ∙ 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 RNF175 gene.

• Inborn genetic diseases (12 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF175 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			12			12
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	12	0	0

Variants in RNF175

This is a list of pathogenic ClinVar variants found in the RNF175 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-153710412-A-G		not specified	Uncertain significance (Sep 16, 2021)
4-153712496-A-G		not specified	Uncertain significance (Jul 26, 2022)
4-153712533-T-C		not specified	Uncertain significance (Dec 02, 2022)
4-153712556-C-T		not specified	Uncertain significance (Dec 03, 2021)
4-153712575-A-G		not specified	Uncertain significance (Nov 30, 2022)
4-153715537-A-C		not specified	Uncertain significance (May 16, 2023)
4-153720197-G-A		not specified	Uncertain significance (Oct 27, 2023)
4-153720219-C-T		not specified	Uncertain significance (Jan 31, 2023)
4-153720281-T-C		not specified	Uncertain significance (Aug 14, 2023)
4-153720284-A-G		not specified	Uncertain significance (Dec 08, 2021)
4-153723355-A-G		not specified	Uncertain significance (Jan 04, 2022)
4-153723399-C-T		not specified	Uncertain significance (May 03, 2023)
4-153723406-C-T		not specified	Uncertain significance (Dec 07, 2023)
4-153728211-G-A		not specified	Uncertain significance (Oct 25, 2023)
4-153728211-G-T		not specified	Uncertain significance (Jul 08, 2022)
4-153728243-C-G		not specified	Uncertain significance (Mar 04, 2024)
4-153728297-C-T		not specified	Uncertain significance (Dec 14, 2023)
4-153728307-A-G		not specified	Uncertain significance (Dec 14, 2023)
4-153748728-T-C		not specified	Uncertain significance (Jun 29, 2023)
4-153748749-G-A		not specified	Uncertain significance (Feb 28, 2024)
4-153748763-T-C		not specified	Uncertain significance (Dec 12, 2023)
4-153751442-A-G		not specified	Uncertain significance (Apr 07, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF175	protein_coding	protein_coding	ENST00000347063	9	50111

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
6.81e-13	0.0339	124253	1	391	124645	0.00157

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.161	165	171	0.965	0.00000899	2126
Missense in Polyphen		54	52.507	1.0284		643
Synonymous	0.0220	61	61.2	0.996	0.00000339	590
Loss of Function	0.0993	19	19.5	0.976	0.00000109	223

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00217	0.00215
Ashkenazi Jewish	0.0276	0.0137
East Asian	0.00587	0.00586
Finnish	0.00	0.00
European (Non-Finnish)	0.00127	0.000699
Middle Eastern	0.00587	0.00586
South Asian	0.000498	0.000425
Other	0.00350	0.00198

dbNSFP

Source: dbNSFP

Intolerance Scores

• loftool: 0.679
• rvis_EVS: 1.93
• rvis_percentile_EVS: 97.46

Haploinsufficiency Scores

• pHI: 0.0735
• hipred: N
• hipred_score: 0.249
• ghis: 0.402

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.0259

Gene Damage Prediction

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

Gene ontology

• Biological process: protein ubiquitination;ubiquitin-dependent ERAD pathway;endoplasmic reticulum unfolded protein response
• Cellular component: Golgi membrane;endoplasmic reticulum membrane;integral component of membrane
• Molecular function: protein binding;metal ion binding;ubiquitin protein ligase activity