RNF183

ring finger protein 183, the group of Ring finger proteins

Basic information

Region (hg38): 9:113297093-113303376

Links

ENSG00000165188 ∙ NCBI:138065 ∙ ∙ HGNC:28721 ∙ Uniprot:Q96D59 ∙ 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 RNF183 gene.

• not_specified (28 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF183 gene is commonly pathogenic or not. These statistics are base on transcript: NM_001371237.1. Only rare variants are included in the table.

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.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous						0
missense			26	2		28
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)						0
Total	0	0	26	2	0

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF183	protein_coding	protein_coding	ENST00000478815	1	6284

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00151	0.459	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.706	102	124	0.822	0.00000777	1236
Missense in Polyphen		37	38.499	0.96107		400
Synonymous	-0.0578	54	53.5	1.01	0.00000325	419
Loss of Function	-0.0446	4	3.90	1.02	1.67e-7	44

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: May act as a E3 ubiquitin ligase catalyzing the covalent attachment of ubiquitin moieties onto substrate proteins. May collaborate with FATE1 to restrain BIK protein levels thus regulating apoptotic signaling (PubMed:26567849). {ECO:0000305|PubMed:26567849}.

Recessive Scores

• pRec: 0.106

Intolerance Scores

• loftool: 0.549
• rvis_EVS: 0.48
• rvis_percentile_EVS: 79.25

Haploinsufficiency Scores

• pHI: 0.0921
• hipred: N
• hipred_score: 0.208

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.421

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf183
• Phenotype: homeostasis/metabolism phenotype

Gene ontology

• Biological process: protein polyubiquitination;apoptotic process;response to endoplasmic reticulum stress;protein autoubiquitination;positive regulation of endoplasmic reticulum stress-induced intrinsic apoptotic signaling pathway
• Cellular component: lysosomal membrane;endoplasmic reticulum;integral component of endoplasmic reticulum membrane;cis-Golgi network membrane
• Molecular function: protein binding;metal ion binding;ubiquitin protein ligase activity