ZNF397

Chr 18

zinc finger protein 397

Also known as: ZNF47, ZSCAN15

This gene encodes a protein with a N-terminal SCAN domain, and the longer isoform contains nine C2H2-type zinc finger repeats in the C-terminal domain. The protein localizes to centromeres during interphase and early prophase, and different isoforms can repress or activate transcription in transfection studies. Multiple transcript variants encoding different isoforms have been found for this gene. Additional variants have been described, but their biological validity has not been determined. [provided by RefSeq, Oct 2009]

ResearchGenerating clinical summary…
0
Active trials
0
Pubs (1 yr)
P/LP submissions
P/LP missense
0.80
LOEUF
Multiple*
Mechanism· predicted
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
0.80LOEUF
pLI 0.000
Z-score 2.27
OE 0.49 (0.300.80)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.03Z-score
OE missense 0.82 (0.740.92)
222 obs / 269.4 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.49 (0.300.80)
00.351.4
Missense OE?0.82 (0.740.92)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 11 / 22.6Missense obs/exp: 222 / 269.4Syn Z: 0.63

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZNF397 · 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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