ZSWIM5

Chr 1

zinc finger SWIM-type containing 5

NCBI Gene: 57643ENSG00000162415UniProt: Q9P217

Predicted to enable zinc ion binding activity. Located in extracellular space. [provided by Alliance of Genome Resources, Jul 2025]

169
ClinVar variants
6
Pathogenic / LP
0.04
pLI score
0
Active trials
Clinical Summary— ZSWIM5
⚡
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.26) despite low pLI — interpret in context.
📋
ClinVar Variants
6 Pathogenic / Likely Pathogenic· 160 VUS of 169 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Moderate LoF intolerance
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
0.40LOEUF
pLI 0.040
Z-score 5.10
OE 0.26 (0.17–0.40)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
2.32Z-score
OE missense 0.74 (0.69–0.80)
471 obs / 635.3 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.26 (0.17–0.40)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.74 (0.69–0.80)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.0.79
0≤1.21.6
LoF obs/exp: 14 / 54.8Missense obs/exp: 471 / 635.3Syn Z: 2.68

ClinVar Variant Classifications

169 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic4
Likely Pathogenic2
VUS160
Likely Benign2
Benign1
4
Pathogenic
2
Likely Pathogenic
160
VUS
2
Likely Benign
1
Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
4
0
4
Likely Pathogenic
0
0
2
0
2
VUS
0
148
12
0
160
Likely Benign
0
2
0
0
2
Benign
0
1
0
0
1
Total0151180169

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

View in ClinVar →

Protein Context — Lollipop Plot

ZSWIM5 · protein map & ClinVar variants

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

OMIM — Genotype-Phenotype Relationships

1 OMIM entry

OMIM
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Cell-type-specific cis-eQTLs in pancreatic cell types identify novel risk genes for type 2 diabetes.
Miao XC et al.·Brief Bioinform
2025
Novel TG-FGFR1 and TRIM33-NTRK1 transcript fusions in papillary thyroid carcinoma.
Pfeifer A et al.·Genes Chromosomes Cancer
2019
Genome-wide identification and spatiotemporal expression profiling of zinc finger SWIM domain-containing protein family genes.
Hassan IU et al.·Zool Res
2023
Novel somatic alterations underlie Chinese papillary thyroid carcinoma.
Yang C et al.·Cancer Biomark
2020
Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies Suggestive Loci for Sodium Intake, Potassium Intake, and Their Ratio Measured from 24-Hour or Half-Day Urine Samples.
Kho M et al.·J Nutr
2020Meta-analysis
RETRACTED: Identification of potential therapeutic targets for breast cancer using Mendelian randomization analysis and drug target prediction.
Huang Z et al.·Environ Toxicol
2025
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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