ZNF778

Chr 16

zinc finger protein 778

The protein encoded by this gene is a member of the krueppel C2H2-type zinc-finger protein family, and it contains one KRAB domain and eighteen C2H2-type zinc fingers. This gene is a candidate gene for autism and variable cognitive impairment in the 16q24.3 microdeletion syndrome. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2011]

ResearchGenerating clinical summary…
MultiplemechanismLOEUF 1.67
Clinical SummaryZNF778
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.67LOEUF
pLI 0.000
Z-score 0.11
OE 0.96 (0.561.67)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-3.26Z-score
OE missense 1.45 (1.361.55)
596 obs / 410.2 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?0.96 (0.561.67)
00.351.4
Missense OE?1.45 (1.361.55)
00.61.4
Synonymous OE?1.50
01.21.6
LoF obs/exp: 8 / 8.4Missense obs/exp: 596 / 410.2Syn Z: -4.94

This gene — mechanism propensity

DN
0.77top 25%
GOF
0.75top 25%
LOF
0.3552th %ile

This gene has evidence for multiple mechanisms of pathogenicity (dominant-negative and gain-of-function). Both the Badonyi & Marsh prediction and the broader genomic evidence point to dominant-negative as the predominant mechanism. Different variants in this gene may act through different mechanisms — interpret in context of the specific variant.

DNprediction above median
GOFprediction above median

Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.

Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF778 · 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

No active trials found for this gene.

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