RNF181

ring finger protein 181, the group of Ring finger proteins

Basic information

Region (hg38): 2:85595725-85597708

Links

ENSG00000168894 ∙ NCBI:51255 ∙ OMIM:612490 ∙ HGNC:28037 ∙ Uniprot:Q9P0P0 ∙ 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 RNF181 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF181 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			8	1		9
nonsense						0
start loss						0
frameshift				1		1
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	8	2	0

Variants in RNF181

This is a list of pathogenic ClinVar variants found in the RNF181 region.

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

Position	Type	Phenotype	Significance	ClinVar
2-85595782-G-C		not specified	Uncertain significance (Oct 12, 2021)
2-85595797-C-A		not specified	Uncertain significance (Sep 13, 2023)
2-85595798-C-T		not specified	Uncertain significance (Jun 18, 2024)
2-85595845-G-T		not specified	Uncertain significance (Dec 30, 2023)
2-85596537-G-A		not specified	Uncertain significance (Dec 28, 2023)
2-85596881-C-G		not specified	Uncertain significance (Dec 15, 2023)
2-85597129-A-G		not specified	Uncertain significance (Jun 06, 2023)
2-85597134-C-A		not specified	Uncertain significance (May 16, 2023)
2-85597168-G-A		not specified	Likely benign (Jan 08, 2024)
2-85597458-A-G		not specified	Uncertain significance (May 14, 2024)
2-85597470-G-A		not specified	Uncertain significance (May 31, 2023)
2-85597489-AG-A			Likely benign (Dec 13, 2018)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF181	protein_coding	protein_coding	ENST00000306368	5	1889

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
3.24e-9	0.0502	125667	0	81	125748	0.000322

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.483	74	86.7	0.854	0.00000434	1008
Missense in Polyphen		14	26.547	0.52736		309
Synonymous	0.945	27	34.0	0.794	0.00000176	274
Loss of Function	-0.523	12	10.2	1.18	5.99e-7	100

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000570	0.000567
Ashkenazi Jewish	0.00	0.00
East Asian	0.00212	0.00212
Finnish	0.0000462	0.0000462
European (Non-Finnish)	0.000159	0.000158
Middle Eastern	0.00212	0.00212
South Asian	0.000132	0.000131
Other	0.000327	0.000326

dbNSFP

Source: dbNSFP

• Function: FUNCTION: E3 ubiquitin-protein ligase which accepts ubiquitin from an E2 ubiquitin-conjugating enzyme in the form of a thioester and then directly transfers the ubiquitin to targeted substrates. {ECO:0000269|PubMed:18331836}.
• Pathway: Post-translational protein modification;Metabolism of proteins;Protein ubiquitination;E3 ubiquitin ligases ubiquitinate target proteins (Consensus)

Recessive Scores

• pRec: 0.101

Intolerance Scores

• loftool: 0.573
• rvis_EVS: 0.28
• rvis_percentile_EVS: 71.08

Haploinsufficiency Scores

• pHI: 0.238
• hipred: N
• hipred_score: 0.244
• ghis: 0.459

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.200

Mouse Genome Informatics

• Gene name: Rnf181

Gene ontology

• Biological process: protein ubiquitination;protein autoubiquitination
• Cellular component: cytoplasm
• Molecular function: ubiquitin-protein transferase activity;protein binding;metal ion binding;ubiquitin protein ligase activity