APOL6

Chr 22

apolipoprotein L6

NCBI Gene: 80830ENSG00000221963UniProt: Q9BWW8

May affect the movement of lipids in the cytoplasm or allow the binding of lipids to organelles

99
ClinVar variants
0
Pathogenic / LP
0.10
pLI score
0
Active trials
Clinical Summary— APOL6
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.10) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
99 total variants — no pathogenic classifications of 99 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
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.
1.88LOEUF
pLI 0.096
Z-score 0.08
OE 0.91 (0.25–1.88)
Tolerant

Highly tolerant — LoF variants common in population

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.
-0.00Z-score
OE missense 1.00 (0.89–1.13)
197 obs / 196.9 exp
Tolerant

Tolerant to missense variation

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.0.91 (0.25–1.88)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.00 (0.89–1.13)
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.1.10
0≤1.21.6
LoF obs/exp: 1 / 1.1Missense obs/exp: 197 / 196.9Syn Z: -0.72

ClinVar Variant Classifications

99 submitted variants in ClinVar

ClinVar

Classification Summary

Protein Context — Lollipop Plot

APOL6 · 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
APOLIPOPROTEIN L6; APOL6
MIM #607256 · *
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Upregulation of Apolipoprotein L6 Improves Tumor Immunotherapy by Inducing Immunogenic Cell Death.
Liu K et al.·Biomolecules
2023
Identification and validation of candidate clinical signatures of apolipoprotein L isoforms in hepatocellular carcinoma.
Wang XK et al.·Sci Rep
2023
Apolipoprotein L6, induced in atherosclerotic lesions, promotes apoptosis and blocks Beclin 1-dependent autophagy in atherosclerotic cells.
Zhaorigetu S et al.·J Biol Chem
2011
The Janus-faced functions of Apolipoproteins L in membrane dynamics.
Pays E·Cell Mol Life Sci
2024
Recapitulating primary immunodeficiencies with expanded potential stem cells: Proof of concept with STAT1 gain of function.
Liu X et al.·J Allergy Clin Immunol
2024
Identification and validation of an immunotherapeutic signature for colon cancer based on the regulatory patterns of ferroptosis and their association with the tumor microenvironment.
Liu Y et al.·Biochim Biophys Acta Mol Cell Res
2024
Identification of pathogenic genes related to rheumatoid arthritis through integrated analysis of DNA methylation and gene expression profiling.
Zhang L et al.·Gene
2017
Variability in functional p53 reactivation by PRIMA-1(Met)/APR-246 in Ewing sarcoma.
Aryee DN et al.·Br J Cancer
2013Functional
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.

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External Resources

Links to major genomics databases and tools