ZNF280D

Chr 15

zinc finger protein 280D

Also known as: SUHW4, ZNF634

NCBI Gene: 54816 ENSG00000137871 UniProt: Q6N043

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

Research

ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

—

Mechanism

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.42LOEUF

pLI 0.047

Z-score 4.68

OE 0.26 (0.17–0.42)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

1.18Z-score

OE missense 0.85 (0.78–0.92)

414 obs / 487.1 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.26 (0.17–0.42)

0≤0.351.4

Missense OE?0.85 (0.78–0.92)

0≤0.61.4

Synonymous OE?1.13

0≤1.21.6

LoF obs/exp: 12 / 46.4Missense obs/exp: 414 / 487.1Syn Z: -1.33

Background carrier burden — how many people carry a rare variant somewhere in ZNF280D?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 58

1,225 rare PASS variants

Rare truncating (LoF)

1 in 2,100

110 rare PASS variants

Rare synonymous (reference)

1 in 130

434 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZNF280D. 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 72	1 in 2,700
South Asian	~43k	1 in 58	1 in 1,500
Remaining (unassigned)	~30k	1 in 62	1 in 2,900
European (Finnish)	~27k	1 in 350	1 in 3,400
Admixed American	~22k	1 in 64	1 in 1,300
African / African American	~21k	1 in 63	1 in 1,500
East Asian	~20k	1 in 75	1 in 740
Ashkenazi Jewish	~13k	1 in 260	≈ 1 in 6,100
Middle Eastern	~2,884	1 in 52	≈ 1 in 2,400

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): 12 of 20 coding exons well covered in gnomAD exomes; exons 5, 7, 8, 10, 12 and 3 more marginal. Genomes: all 20.? see exons ↓