RNF148

ring finger protein 148, the group of Ring finger proteins

Basic information

Region (hg38): 7:122701668-122702922

Links

ENSG00000235631 ∙ NCBI:378925 ∙ ∙ HGNC:22411 ∙ Uniprot:Q8N7C7 ∙ 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 RNF148 gene.

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the RNF148 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			28	2		30
nonsense						0
start loss						0
frameshift						0
inframe indel						0
splice donor/acceptor (+/-2bp)						0
splice region						0
non coding						0
Total	0	0	28	2	0

Variants in RNF148

This is a list of pathogenic ClinVar variants found in the RNF148 region.

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

Position	Type	Phenotype	Significance	ClinVar
7-122701846-A-G		not specified	Uncertain significance (Dec 28, 2023)
7-122701865-G-C		not specified	Uncertain significance (Feb 28, 2024)
7-122701893-G-T		not specified	Uncertain significance (Aug 22, 2023)
7-122701909-T-A		not specified	Uncertain significance (Mar 28, 2024)
7-122701931-A-C		not specified	Uncertain significance (Mar 29, 2023)
7-122701937-G-A		not specified	Uncertain significance (Jun 06, 2023)
7-122701945-T-C		not specified	Uncertain significance (Nov 19, 2022)
7-122701958-A-G		not specified	Uncertain significance (Jan 04, 2022)
7-122701978-C-G		not specified	Uncertain significance (Dec 18, 2023)
7-122701981-T-C		not specified	Likely benign (Jan 03, 2024)
7-122702031-T-G		not specified	Uncertain significance (Dec 19, 2023)
7-122702077-C-T		not specified	Uncertain significance (Aug 02, 2022)
7-122702107-G-A		not specified	Uncertain significance (Oct 12, 2021)
7-122702254-G-A		not specified	Likely benign (Jun 29, 2023)
7-122702297-C-T		not specified	Uncertain significance (Sep 17, 2021)
7-122702302-A-G		not specified	Uncertain significance (Sep 28, 2021)
7-122702314-C-A		not specified	Uncertain significance (Oct 29, 2021)
7-122702347-G-A		not specified	Uncertain significance (Sep 27, 2021)
7-122702356-T-C		not specified	Uncertain significance (May 09, 2024)
7-122702368-A-G		not specified	Uncertain significance (Mar 23, 2022)
7-122702369-T-C		not specified	Uncertain significance (Dec 22, 2023)
7-122702444-C-A		not specified	Uncertain significance (Feb 14, 2023)
7-122702533-C-G		not specified	Uncertain significance (Sep 29, 2022)
7-122702564-C-T		not specified	Uncertain significance (Aug 29, 2022)
7-122702565-G-T		not specified	Uncertain significance (Sep 25, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF148	protein_coding	protein_coding	ENST00000434824	1	1304

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.00000260	0.316	0	0	0	0	0.00

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	-1.52	222	167	1.33	0.00000888	2011
Missense in Polyphen		86	62.174	1.3832		730
Synonymous	-1.98	84	63.8	1.32	0.00000378	596
Loss of Function	0.274	9	9.93	0.906	5.93e-7	111

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

Intolerance Scores

• loftool: 0.710
• rvis_EVS: -0.82
• rvis_percentile_EVS: 11.68

Haploinsufficiency Scores

• hipred: N
• hipred_score: 0.131
• ghis: 0.406

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: N
• gene_indispensability_score: 0.192

Gene Damage Prediction

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

Mouse Genome Informatics

• Gene name: Rnf148

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