ZNF747

Chr 16

zinc finger protein 747

NCBI Gene: 65988ENSG00000169955UniProt: Q9BV97

This protein is predicted to bind zinc ions and regulate DNA transcription. Mutations in ZNF747 have been associated with neurodevelopmental disorders, though the clinical phenotype and inheritance pattern are not well-established. The gene shows tolerance to loss-of-function variants (pLI 0.07, LOEUF 1.47), suggesting that complete loss of function may not be the primary disease mechanism.

ResearchSummary from RefSeq
MultiplemechanismLOEUF 1.47
Clinical Summary— ZNF747
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.07) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
13 unique Pathogenic / Likely Pathogenic· 45 VUS of 65 total submissions
Explore recent and relevant literature in Research Assistant →
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.47LOEUF
pLI 0.072
Z-score 0.96
OE 0.49 (0.20–1.47)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.24Z-score
OE missense 1.06 (0.92–1.24)
117 obs / 109.9 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE0.49 (0.20–1.47)
0≤0.351.4
Missense OE1.06 (0.92–1.24)
0≤0.61.4
Synonymous OE1.08
0≤1.21.6
LoF obs/exp: 2 / 4.1Missense obs/exp: 117 / 109.9Syn Z: -0.45
DN
0.6840th %ile
GOF
0.79top 25%
LOF
0.3648th %ile

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

GOFprediction above median
DNprediction 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

65 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic11
Likely Pathogenic2
VUS45
Likely Benign4
11
Pathogenic
2
Likely Pathogenic
45
VUS
4
Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
0
0
11
0
11
Likely Pathogenic
0
0
2
0
2
VUS
1
36
8
0
45
Likely Benign
0
4
0
0
4
Benign
0
0
0
0
0
Total14021062

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

View in ClinVar →

Protein Context — Lollipop Plot

ZNF747 · protein map & ClinVar variants

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

3D Protein StructureAlphaFold

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Open Research Assistant →
Full-Text Mentions
NLP-detected gene mentions in article bodies · via PubTator3
PubTator3
Top 5 full-text resultsSearch PubTator3 ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC

No open access results found

Top 5 resultsSearch Europe PMC ↗

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