RNF141

ring finger protein 141, the group of Ring finger proteins

Basic information

Region (hg38): 11:10511673-10541230

Links

ENSG00000110315 ∙ NCBI:50862 ∙ OMIM:616641 ∙ HGNC:21159 ∙ Uniprot:Q8WVD5 ∙ 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 RNF141 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF141 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			4			4
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	4	0	0

Variants in RNF141

This is a list of pathogenic ClinVar variants found in the RNF141 region.

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

Position	Type	Phenotype	Significance	ClinVar
11-10514927-G-A		not specified	Uncertain significance (Apr 09, 2024)
11-10515035-G-A		not specified	Uncertain significance (Jan 31, 2022)
11-10515054-G-C		not specified	Uncertain significance (Nov 12, 2021)
11-10525219-G-C		not specified	Uncertain significance (Aug 05, 2024)
11-10530749-G-A		not specified	Uncertain significance (Feb 28, 2024)
11-10534095-T-C		not specified	Uncertain significance (Oct 17, 2023)
11-10534116-T-G		not specified	Uncertain significance (Mar 15, 2024)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF141	protein_coding	protein_coding	ENST00000265981	5	29553

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0000902	0.800	125715	0	30	125745	0.000119

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	1.04	94	127	0.740	0.00000654	1518
Missense in Polyphen		23	37.837	0.60787		448
Synonymous	-0.0495	45	44.6	1.01	0.00000228	426
Loss of Function	1.18	8	12.5	0.639	6.62e-7	138

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000363	0.000363
Ashkenazi Jewish	0.000198	0.000198
East Asian	0.0000546	0.0000544
Finnish	0.000231	0.000231
European (Non-Finnish)	0.0000885	0.0000879
Middle Eastern	0.0000546	0.0000544
South Asian	0.000102	0.0000980
Other	0.00	0.00

dbNSFP

Source: dbNSFP

• Function: FUNCTION: May be involved in spermatogenesis. {ECO:0000269|PubMed:11672448}.

Recessive Scores

• pRec: 0.118

Intolerance Scores

• loftool: 0.524
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.06

Haploinsufficiency Scores

• pHI: 0.246
• hipred: Y
• hipred_score: 0.528
• ghis: 0.420

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.561

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf141
• Phenotype: reproductive system phenotype

Gene ontology

• Biological process: regulation of transcription, DNA-templated;protein autoubiquitination
• Cellular component: membrane
• Molecular function: DNA binding;ubiquitin-protein transferase activity;metal ion binding