RNF133

ring finger protein 133, the group of Ring finger proteins

Basic information

Region (hg38): 7:122697735-122699117

Links

ENSG00000188050 ∙ NCBI:168433 ∙ ∙ HGNC:21154 ∙ Uniprot:Q8WVZ7 ∙ 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 RNF133 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF133 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			19	2		21
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	19	2	0

Variants in RNF133

This is a list of pathogenic ClinVar variants found in the RNF133 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-122697889-C-T		not specified	Likely benign (Dec 15, 2023)
7-122697946-G-C		not specified	Uncertain significance (Mar 23, 2023)
7-122697979-T-C		not specified	Uncertain significance (Sep 07, 2022)
7-122698117-T-C		not specified	Uncertain significance (Jun 06, 2023)
7-122698142-G-C		not specified	Uncertain significance (Apr 22, 2024)
7-122698174-T-C		not specified	Likely benign (May 28, 2024)
7-122698228-G-C		not specified	Uncertain significance (Dec 06, 2022)
7-122698234-C-T		not specified	Uncertain significance (Jul 17, 2023)
7-122698257-C-T		not specified	Uncertain significance (May 03, 2023)
7-122698269-C-T		not specified	Uncertain significance (Nov 07, 2024)
7-122698350-T-C		not specified	Uncertain significance (Dec 13, 2023)
7-122698360-T-C		not specified	Uncertain significance (Nov 14, 2024)
7-122698425-T-C		not specified	Uncertain significance (Nov 08, 2024)
7-122698498-G-A		not specified	Uncertain significance (Jan 16, 2024)
7-122698533-A-G		not specified	Uncertain significance (Jul 14, 2021)
7-122698561-T-C		not specified	Likely benign (Mar 24, 2023)
7-122698585-A-T		not specified	Uncertain significance (Jan 26, 2022)
7-122698600-G-A		not specified	Uncertain significance (May 17, 2023)
7-122698633-T-C		not specified	Uncertain significance (Aug 30, 2021)
7-122698653-T-C		not specified	Uncertain significance (Feb 08, 2023)
7-122698777-C-A		not specified	Uncertain significance (Oct 03, 2024)
7-122698785-G-A		not specified	Uncertain significance (Feb 15, 2023)
7-122698798-A-G		not specified	Uncertain significance (May 13, 2022)
7-122698848-A-G		not specified	Uncertain significance (Jan 03, 2024)
7-122698855-T-C		not specified	Uncertain significance (Feb 11, 2022)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF133	protein_coding	protein_coding	ENST00000340112	1	1445

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.0372	0.932	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-0.381	216	201	1.08	0.0000101	2465
Missense in Polyphen		62	59.07	1.0496		752
Synonymous	-0.524	74	68.5	1.08	0.00000331	735
Loss of Function	1.87	4	10.6	0.378	6.20e-7	126

LoF frequencies by population

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

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Has E3 ubiquitin-protein ligase activity. {ECO:0000250|UniProtKB:Q14B02}.

Intolerance Scores

• loftool: 0.840
• rvis_EVS: 0.75
• rvis_percentile_EVS: 86.65

Haploinsufficiency Scores

• pHI: 0.266
• hipred: N
• hipred_score: 0.146
• ghis: 0.394

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.375

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf133

Gene ontology

• Biological process: ubiquitin-dependent protein catabolic process;protein autoubiquitination
• Cellular component: endoplasmic reticulum membrane;integral component of membrane
• Molecular function: metal ion binding;ubiquitin protein ligase activity