ZNF705B

Chr 8

zinc finger protein 705B

NCBI Gene: 100132396ENSG00000215356UniProt: P0CI00

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II transcription regulatory region sequence-specific DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be active in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
85
Pathogenic / LP
186
ClinVar variants
0
Pubs (1 yr)
-0.6
Missense Z
1.88
LOEUF
Clinical Summary— ZNF705B
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
85 Pathogenic / Likely Pathogenic· 18 VUS of 186 total submissions

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint
1.88LOEUF
pLI 0.000
Z-score -0.32
OE 1.16 (0.58–1.88)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint
-0.62Z-score
OE missense 1.28 (1.02–1.63)
48 obs / 37.4 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios
LoF OE1.16 (0.58–1.88)
0≤0.351.4
Missense OE1.28 (1.02–1.63)
0≤0.61.4
Synonymous OE0.87
0≤1.21.6
LoF obs/exp: 5 / 4.3Missense obs/exp: 48 / 37.4Syn Z: 0.36
GOFDN
DN
0.80top 25%
GOF
0.80top 10%
LOF
0.2873th %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

186 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic83
Likely Pathogenic2
VUS18
Likely Benign1
Benign81
Conflicting1
83
Pathogenic
2
Likely Pathogenic
18
VUS
1
Likely Benign
81
Benign
1
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
————83
Likely Pathogenic
————2
VUS
————18
Likely Benign
————1
Benign
————81
Conflicting
—1
Total—186

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

ZNF705B · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →
Clinical Literature
Landmark / reviewRecent case evidence
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