RNF113B

Chr 13

ring finger protein 113B

Also known as: RNF161, ZNF183L1, bA10G5.1

NCBI Gene: 140432ENSG00000139797UniProt: 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
LOEUF 0.50
Clinical Summary— RNF113B
⚡
Population Constraint (gnomAD)
Moderately constrained gene (pLI 0.79) — some intolerance to loss-of-function variants.
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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 OE0.11 (0.04–0.50)
0≤0.351.4
Missense OE0.86 (0.76–0.96)
0≤0.61.4
Synonymous OE0.92
0≤1.21.6
LoF obs/exp: 1 / 9.5Missense obs/exp: 190 / 222.0Syn Z: 0.64

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

RNF113B · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

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Clinical Literature
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Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
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Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

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External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients