ZNF124
Chr 1zinc finger protein 124
May be involved in transcriptional regulation
0
ClinVar variants
0
Pathogenic / LP
0.01
pLI score
0
Active trials
Clinical Summary— ZNF124
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Population Constraint (gnomAD)
Low constraint (pLI 0.01) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (2)
ncbi: Error: NCBI fetch failed: 429 https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esearch.fcgi
omim: Error: OMIM fetch failed: 429
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
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.
1.73LOEUF
pLI 0.011
Z-score 0.42
OE 0.77 (0.34–1.73)
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.
-0.16Z-score
OE missense 1.04 (0.91–1.18)
163 obs / 157.4 exp
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.0.77 (0.34–1.73)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.1.04 (0.91–1.18)
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.0.88
0≤1.21.6
LoF obs/exp: 3 / 3.9Missense obs/exp: 163 / 157.4Syn Z: 0.69
ClinVar Variant Classifications
0 submitted variants in ClinVar
Protein Context — Lollipop Plot
ZNF124 · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
OMIM — Genotype-Phenotype
No OMIM entries found.
External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
Integrative RNA profiling of TBEV-infected neurons and astrocytes reveals potential pathogenic effectors.
Selinger M et al.·Comput Struct Biotechnol J
2022
Circ-ZNF124 downregulation inhibits non-small cell lung cancer progression partly by inactivating the Wnt/β-catenin signaling pathway via mediating the miR-498/YES1 axis.
Gao F et al.·Anticancer Drugs
2021
Circ_ZNF124 promotes non-small cell lung cancer progression by abolishing miR-337-3p mediated downregulation of JAK2/STAT3 signaling pathway.
Li Q et al.·Cancer Cell Int
2019
Genomic and Transcriptomic Analyses Reveals ZNF124 as a Critical Regulator in Highly Aggressive Medulloblastomas.
Luo Z et al.·Front Cell Dev Biol
2021
HPV-Associated Gene Signatures in Bladder Cancer: A Comprehensive Prognostic Model and its Implications in Immunotherapy.
Tang Z et al.·Int J Med Sci
2025Functional
Unveiling ZNF124 as a novel determinant in neurodegeneration: orchestration of photoreceptor homeostasis through MSX2 transcriptional regulation.
Yang Y et al.·Cell Death Dis
2026
Genome-wide analysis toward the epigenetic aetiology of myelodysplastic syndrome disease progression and pharmacoepigenomic basis of hypomethylating agents drug treatment response.
Siamoglou S et al.·Hum Genomics
2023
Maternal 5(m)CpG Imprints at the PARD6G-AS1 and GCSAML Differentially Methylated Regions Are Decoupled From Parent-of-Origin Expression Effects in Multiple Human Tissues.
de Sá Machado Araújo G et al.·Front Genet
2018
Reconstruction of an integrated genome-scale co-expression network reveals key modules involved in lung adenocarcinoma.
Bidkhori G et al.·PLoS One
2013
Dandy-Walker complex in a boy with a 5 Mb deletion of region 1q44 due to a paternal t(1;20)(q44;q13.33).
Poot M et al.·Am J Med Genet A
2007Case report
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
No open access results found
Top 5 resultsSearch Europe PMC ↗
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools
Variant Interpretation
Population Databases
Gene Resources
Expert Curation
ClinGen
Expert-curated gene-disease validity
GenCC
Gene Curation Coalition — multi-curator classifications
Orphanet
Rare disease encyclopedia and gene-disease associations
PanelApp
Gene panels for rare disease diagnostics (Genomics England)
LOVD
Leiden Open Variation Database — variant listings
GeneReviews
Expert-authored summaries of heritable conditions (NCBI)