IKZF4

Chr 12

IKAROS family zinc finger 4

Also known as: EOS, ZNFN1A4

NCBI Gene: 64375ENSG00000123411UniProt: Q9H2S9

Members of the Ikaros (ZNFN1A1; MIM 603023) family of transcription factors, which includes Eos, are expressed in lymphocytes and are implicated in the control of lymphoid development.[supplied by OMIM, Jul 2002]

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.
1
Active trials
6
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.38
LOEUF
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
Moderate LoF intolerance
LoF Constraint?
0.38LOEUF
pLI 0.898
Z-score 3.59
OE 0.15 (0.07–0.38)
Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?
2.41Z-score
OE missense 0.64 (0.57–0.71)
228 obs / 355.9 exp
Mild constraint

Moderately missense-constrained (top ~2.5%)

Observed / Expected Ratios?
LoF OE?0.15 (0.07–0.38)
0≤0.351.4
Missense OE?0.64 (0.57–0.71)
0≤0.61.4
Synonymous OE?0.94
0≤1.21.6
LoF obs/exp: 3 / 20.6Missense obs/exp: 228 / 355.9Syn Z: 0.57

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

IKZF4 · protein map & ClinVar variants

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

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