RNF150

ring finger protein 150, the group of Ring finger proteins

Basic information

Region (hg38): 4:140859806-141212877

Links

ENSG00000170153 ∙ NCBI:57484 ∙ ∙ HGNC:23138 ∙ Uniprot:Q9ULK6 ∙ 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 RNF150 gene.

• Inborn genetic diseases (17 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF150 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			16	1		17
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	16	1	0

Variants in RNF150

This is a list of pathogenic ClinVar variants found in the RNF150 region.

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

Position	Type	Phenotype	Significance	ClinVar
4-140868359-T-G		not specified	Uncertain significance (Aug 02, 2021)
4-140868371-C-G		not specified	Uncertain significance (Sep 01, 2021)
4-140868376-T-G		not specified	Uncertain significance (Dec 16, 2021)
4-140911149-G-A		not specified	Uncertain significance (Aug 09, 2021)
4-140911242-A-G		not specified	Uncertain significance (Oct 04, 2022)
4-140911345-C-T		not specified	Uncertain significance (May 16, 2023)
4-140947676-C-T		not specified	Uncertain significance (Feb 17, 2022)
4-140967705-A-G		not specified	Uncertain significance (Dec 27, 2023)
4-140967833-T-G		not specified	Uncertain significance (Nov 30, 2022)
4-141132403-A-G		not specified	Uncertain significance (Aug 17, 2022)
4-141132407-G-T		not specified	Uncertain significance (Apr 07, 2023)
4-141132416-C-A		not specified	Uncertain significance (Nov 08, 2021)
4-141132477-G-A		not specified	Uncertain significance (May 24, 2023)
4-141132535-T-A		not specified	Uncertain significance (Nov 03, 2022)
4-141132546-C-T		not specified	Uncertain significance (Jan 26, 2022)
4-141132588-C-G		not specified	Uncertain significance (Apr 12, 2023)
4-141132603-G-C		not specified	Uncertain significance (Dec 15, 2021)
4-141132678-A-T		not specified	Uncertain significance (Dec 16, 2023)
4-141132741-A-C		not specified	Uncertain significance (Feb 21, 2024)
4-141132754-G-T		not specified	Uncertain significance (Oct 25, 2022)
4-141132781-A-G		not specified	Likely benign (Apr 07, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF150	protein_coding	protein_coding	ENST00000515673	7	353071

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.000730	0.983	125729	0	19	125748	0.0000756

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.971	220	264	0.832	0.0000138	2865
Missense in Polyphen		64	96.454	0.66353		1036
Synonymous	-0.479	111	105	1.06	0.00000576	872
Loss of Function	2.11	8	17.6	0.456	8.97e-7	193

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.000149	0.000149
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.0000925	0.0000924
European (Non-Finnish)	0.0000732	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.000131	0.000131
Other	0.000164	0.000163

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.105

Intolerance Scores

• loftool: 0.526
• rvis_EVS: -0.45
• rvis_percentile_EVS: 24.33

Haploinsufficiency Scores

• pHI: 0.161
• hipred: Y
• hipred_score: 0.594
• ghis: 0.535

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.764

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf150

Gene ontology

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