ZBTB7C

Chr 18

zinc finger and BTB domain containing 7C

Also known as: APM-1, APM1, ZBTB36, ZNF857C

Predicted to enable DNA-binding transcription factor activity, RNA polymerase II-specific and RNA polymerase II cis-regulatory region sequence-specific DNA binding activity. Involved in negative regulation of cell population proliferation. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

0
Active trials
2
Pubs (1 yr)
0
P/LP submissions
P/LP missense
0.62
LOEUF
DN
Mechanism· predicted
Clinical SummaryZBTB7C
Population Constraint (gnomAD)
Constrained for loss-of-function variants (OE-LoF 0.27) despite low pLI — interpret in context.

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint
0.62LOEUF
pLI 0.161
Z-score 2.60
OE 0.27 (0.130.62)
Tolerant

Typical tolerance to LoF variation

Missense Constraint
1.32Z-score
OE missense 0.81 (0.740.89)
313 obs / 386.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios
LoF OE0.27 (0.130.62)
00.351.4
Missense OE0.81 (0.740.89)
00.61.4
Synonymous OE0.96
01.21.6
LoF obs/exp: 4 / 14.8Missense obs/exp: 313 / 386.2Syn Z: 0.41
DN
0.6745th %ile
GOF
0.4382th %ile
LOF
0.52top 25%

The highest-scoring mechanism for this gene is dominant-negative.

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

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZBTB7C · 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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Clinical Literature
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