ZSWIM8

Chr 10

zinc finger SWIM-type containing 8

Also known as: KIAA0913

NCBI Gene: 23053ENSG00000214655UniProt: A7E2V4

Enables ubiquitin-like ligase-substrate adaptor activity. Involved in several processes, including positive regulation of miRNA catabolic process; protein catabolic process; and target-directed miRNA degradation. Part of Cul3-RING ubiquitin ligase 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.
0
Active trials
14
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.13
LOEUF· LoF intol.
LOF
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Dual constrained — LoF & missense intolerant
LoF Constraint?
0.13LOEUF
pLI 1.000
Z-score 7.73
OE 0.06 (0.03–0.13)
Highly constrained

Among the most LoF-intolerant genes (~top 3%)

Missense Constraint?
5.14Z-score
OE missense 0.56 (0.53–0.60)
612 obs / 1089.8 exp
Constrained

Extremely missense-constrained (top ~0.01%)

Observed / Expected Ratios?
LoF OE?0.06 (0.03–0.13)
0≤0.351.4
Missense OE?0.56 (0.53–0.60)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 5 / 79.3Missense obs/exp: 612 / 1089.8Syn Z: 0.36

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

ZSWIM8 · protein map & ClinVar variants

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

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

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