RNF113B

ring finger protein 113B, the group of Ring finger proteins

Basic information

Region (hg38): 13:98175784-98177269

Previous symbols: [ "ZNF183L1" ]

Links

ENSG00000139797 ∙ NCBI:140432 ∙ ∙ HGNC:17267 ∙ Uniprot:Q8IZP6 ∙ 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 RNF113B 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 RNF113B 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			17			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	17	0	0

Variants in RNF113B

This is a list of pathogenic ClinVar variants found in the RNF113B region.

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

Position	Type	Phenotype	Significance	ClinVar
13-98176170-T-G		not specified	Uncertain significance (Feb 09, 2022)
13-98176350-G-A		not specified	Uncertain significance (Dec 07, 2021)
13-98176351-G-A		not specified	Likely benign (Feb 12, 2024)
13-98176374-G-A		not specified	Uncertain significance (Feb 07, 2023)
13-98176495-C-T		not specified	Uncertain significance (Jul 14, 2021)
13-98176591-C-T		not specified	Uncertain significance (Oct 12, 2021)
13-98176674-C-T		not specified	Uncertain significance (Nov 10, 2022)
13-98176701-G-C		not specified	Uncertain significance (Dec 09, 2023)
13-98176731-G-A		not specified	Uncertain significance (Aug 04, 2023)
13-98176781-G-C		not specified	Uncertain significance (Sep 06, 2022)
13-98176876-C-T		not specified	Uncertain significance (Dec 15, 2021)
13-98176882-C-T		not specified	Uncertain significance (Nov 07, 2023)
13-98176944-C-T		not specified	Uncertain significance (Apr 28, 2023)
13-98176945-G-A		not specified	Uncertain significance (Dec 13, 2022)
13-98176966-C-T		not specified	Uncertain significance (Oct 14, 2023)
13-98176986-T-G		not specified	Uncertain significance (Dec 09, 2023)
13-98177006-G-T		not specified	Uncertain significance (Feb 15, 2023)
13-98177061-G-C		not specified	Uncertain significance (Feb 17, 2024)
13-98177104-C-T		not specified	Uncertain significance (Jan 23, 2023)
13-98177130-C-T		not specified	Uncertain significance (Apr 27, 2022)
13-98177134-T-C		not specified	Uncertain significance (Apr 28, 2023)
13-98177157-C-A		not specified	Uncertain significance (May 27, 2022)
13-98177158-G-A		not specified	Uncertain significance (Jun 12, 2023)
13-98177197-C-T		not specified	Uncertain significance (Mar 03, 2022)
13-98177233-C-G		not specified	Uncertain significance (Jun 05, 2023)

GnomAD

Source: gnomAD

Gene	Type	Bio Type	Transcript	Coding Exons	Length
RNF113B	protein_coding	protein_coding	ENST00000267291	2	1481

pLI Probability LOF Intolerant	pRec Probability LOF Recessive	Individuals with no LOFs	Individuals with Homozygous LOFs	Individuals with Heterozygous LOFs	Defined	p
0.789	0.210	125651	0	97	125748	0.000386

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible in Transcript
Missense	0.762	190	222	0.856	0.0000164	2112
Missense in Polyphen		48	54.742	0.87684		540
Synonymous	0.641	90	98.1	0.918	0.00000819	625
Loss of Function	2.56	1	9.51	0.105	4.12e-7	114

LoF frequencies by population

Ethnicity	Sum of pLOFs	p
African & African-American	0.00215	0.00215
Ashkenazi Jewish	0.00	0.00
East Asian	0.00	0.00
Finnish	0.00	0.00
European (Non-Finnish)	0.0000710	0.0000703
Middle Eastern	0.00	0.00
South Asian	0.0000980	0.0000980
Other	0.00228	0.00228

dbNSFP

Source: dbNSFP

Recessive Scores

• pRec: 0.0944

Intolerance Scores

• loftool: 0.653
• rvis_EVS: 0.26
• rvis_percentile_EVS: 70.26

Haploinsufficiency Scores

• pHI: 0.119
• hipred: N
• hipred_score: 0.187

Essentials

• essential_gene_CRISPR: N
• essential_gene_CRISPR2: N
• essential_gene_gene_trap: N
• gene_indispensability_pred: E
• gene_indispensability_score: 0.590

Gene Damage Prediction

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

Gene ontology

• Biological process: snoRNA splicing
• Cellular component: U2-type spliceosomal complex
• Molecular function: metal ion binding