RNF113B

Chr 13

ring finger protein 113B

Also known as: RNF161, ZNF183L1, bA10G5.1

NCBI Gene: 140432 ENSG00000139797 UniProt: Q8IZP6

The protein is predicted to bind zinc ions and participate in snoRNA splicing as part of the U2-type spliceosomal complex. This gene is highly constrained against loss-of-function mutations (pLI 0.79, LOEUF 0.50), but specific disease associations have not yet been established in the provided data.

ResearchSummary from RefSeq

Predicted to enable ubiquitin-protein transferase activity. Predicted to be involved in mRNA splicing, via spliceosome. Predicted to be part of U2-type spliceosomal complex. [provided by Alliance of Genome Resources, Jun 2026]

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.50

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.50LOEUF

pLI 0.789

Z-score 2.56

OE 0.11 (0.04–0.50)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.76Z-score

OE missense 0.86 (0.76–0.96)

190 obs / 222.0 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.11 (0.04–0.50)

0≤0.351.4

Missense OE?0.86 (0.76–0.96)

0≤0.61.4

Synonymous OE?0.92

0≤1.21.6

LoF obs/exp: 1 / 9.5Missense obs/exp: 190 / 222.0Syn Z: 0.64

Background carrier burden — how many people carry a rare variant somewhere in RNF113B?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 120

472 rare PASS variants

Rare truncating (LoF)

1 in 2,600

59 rare PASS variants

Rare synonymous (reference)

1 in 280

213 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for RNF113B. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 180	1 in 4,000
South Asian	~43k	1 in 97	1 in 4,200
Remaining (unassigned)	~30k	1 in 100	1 in 3,000
European (Finnish)	~27k	1 in 460	none seen
Admixed American	~22k	1 in 120	≈ 1 in 7,500
African / African American	~21k	1 in 130	1 in 2,200
East Asian	~20k	1 in 170	1 in 2,000
Ashkenazi Jewish	~13k	1 in 790	≈ 1 in 13,000
Middle Eastern	~2,884	1 in 140	≈ 1 in 1,400

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 2 coding exons well covered in gnomAD exomes and genomes.? see exons ↓