RNF166

ring finger protein 166, the group of Ring finger proteins

Basic information

Region (hg38): 16:88696499-88706408

Links

ENSG00000158717 ∙ NCBI:115992 ∙ OMIM:617178 ∙ HGNC:28856 ∙ Uniprot:Q96A37 ∙ 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 RNF166 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF166 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				1		1
missense			27			27
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	27	1	0

Variants in RNF166

This is a list of pathogenic ClinVar variants found in the RNF166 region.

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

Position	Type	Phenotype	Significance	ClinVar
16-88697576-C-G		not specified	Uncertain significance (Sep 15, 2021)
16-88697611-G-A		not specified	Uncertain significance (Dec 06, 2022)
16-88697611-G-C		not specified	Uncertain significance (Dec 06, 2022)
16-88698523-C-G		not specified	Uncertain significance (Jan 04, 2024)
16-88698563-T-C		not specified	Uncertain significance (Dec 15, 2023)
16-88698573-G-C		not specified	Uncertain significance (Jun 18, 2021)
16-88698576-C-T		not specified	Uncertain significance (Dec 19, 2022)
16-88698975-C-T		not specified	Uncertain significance (Jan 23, 2023)
16-88698985-C-T		not specified	Uncertain significance (Jan 20, 2023)
16-88699039-G-A		not specified	Uncertain significance (Dec 21, 2023)
16-88699042-C-T		not specified	Uncertain significance (Mar 01, 2023)
16-88699629-G-A		not specified	Uncertain significance (Nov 05, 2021)
16-88699648-C-T		not specified	Uncertain significance (Jun 11, 2021)
16-88699651-G-T		not specified	Uncertain significance (Apr 13, 2023)
16-88699654-C-T		not specified	Uncertain significance (Jan 30, 2024)
16-88699662-G-A		not specified	Uncertain significance (Dec 16, 2023)
16-88699668-T-C		not specified	Uncertain significance (Feb 17, 2024)
16-88699713-C-G		not specified	Uncertain significance (Dec 03, 2021)
16-88701278-C-T		not specified	Uncertain significance (Oct 26, 2022)
16-88701296-G-C		not specified	Uncertain significance (Mar 27, 2023)
16-88701326-T-C		not specified	Uncertain significance (Feb 28, 2024)
16-88701410-C-T		not specified	Uncertain significance (May 24, 2024)
16-88701411-C-T		not specified	Uncertain significance (Apr 17, 2024)
16-88706196-C-A		not specified	Uncertain significance (May 20, 2024)
16-88706204-T-C		not specified	Uncertain significance (Nov 21, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF166	protein_coding	protein_coding	ENST00000312838	6	9927

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.487	0.509	124922	0	3	124925	0.0000120

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.733	91	113	0.806	0.00000670	1517
Missense in Polyphen		25	40.554	0.61646		460
Synonymous	-1.68	64	49.1	1.30	0.00000334	442
Loss of Function	2.39	2	10.2	0.195	5.60e-7	131

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.0000619	0.0000619
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000178	0.0000178
Middle Eastern	0.00	0.00
South Asian	0.00	0.00
Other	0.00	0.00

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0991

Intolerance Scores

• loftool: 0.145
• rvis_EVS: -0.49
• rvis_percentile_EVS: 22.09

Haploinsufficiency Scores

• pHI: 0.117
• hipred: N
• hipred_score: 0.276
• ghis: 0.615

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: S
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.943

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf166

Gene ontology

• Molecular function: protein binding;metal ion binding