ZSCAN29

Chr 15

zinc finger and SCAN domain containing 29

Also known as: ZNF690, Zfp690

NCBI Gene: 146050 ENSG00000140265 UniProt: Q8IWY8

Enables sequence-specific double-stranded DNA binding activity. Predicted to be involved in regulation of transcription by RNA polymerase II. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Research

ResearchGenerating clinical summary…

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.92

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

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.92LOEUF

pLI 0.000

Z-score 1.93

OE 0.64 (0.45–0.92)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

0.06Z-score

OE missense 0.99 (0.92–1.07)

470 obs / 473.9 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.64 (0.45–0.92)

0≤0.351.4

Missense OE?0.99 (0.92–1.07)

0≤0.61.4

Synonymous OE?0.98

0≤1.21.6

LoF obs/exp: 21 / 32.9Missense obs/exp: 470 / 473.9Syn Z: 0.24

Background carrier burden — how many people carry a rare variant somewhere in ZSCAN29?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 40

1,131 rare PASS variants

Rare truncating (LoF)

1 in 800

197 rare PASS variants

Rare synonymous (reference)

1 in 230

354 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZSCAN29. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 56	1 in 820
South Asian	~43k	1 in 41	1 in 740
Remaining (unassigned)	~30k	1 in 30	1 in 2,200
European (Finnish)	~27k	1 in 110	≈ 1 in 6,600
Admixed American	~22k	1 in 51	1 in 460
African / African American	~21k	1 in 46	1 in 600
East Asian	~20k	1 in 60	1 in 960
Ashkenazi Jewish	~13k	1 in 140	none seen
Middle Eastern	~2,884	1 in 48	≈ 1 in 720

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): All 5 coding exons well covered in gnomAD exomes and genomes.? see exons ↓