ZMAT4

Chr 8

zinc finger matrin-type 4

NCBI Gene: 79698 ENSG00000165061 UniProt: Q9H898

Enables identical protein binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

Research

Enables identical protein binding activity. Predicted to be located in nucleus. [provided by Alliance of Genome Resources, Jul 2025]

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

0.73

LOEUF

Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

0.73LOEUF

pLI 0.076

Z-score 2.23

OE 0.32 (0.16–0.73)

Tolerant

Typical tolerance to LoF variation

Missense Constraint?

1.37Z-score

OE missense 0.66 (0.55–0.79)

83 obs / 126.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.32 (0.16–0.73)

0≤0.351.4

Missense OE?0.66 (0.55–0.79)

0≤0.61.4

Synonymous OE?1.09

0≤1.21.6

LoF obs/exp: 4 / 12.5Missense obs/exp: 83 / 126.3Syn Z: -0.52

Background carrier burden — how many people carry a rare variant somewhere in ZMAT4?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 540

263 rare PASS variants

Rare truncating (LoF)

1 in 11,000

29 rare PASS variants

Rare synonymous (reference)

1 in 280

124 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ZMAT4. 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 600	1 in 16,000
South Asian	~43k	1 in 440	1 in 4,300
Remaining (unassigned)	~30k	1 in 250	≈ 1 in 7,500
European (Finnish)	~27k	1 in 940	≈ 1 in 6,500
Admixed American	~22k	1 in 680	≈ 1 in 5,600
African / African American	~21k	1 in 700	≈ 1 in 5,600
East Asian	~20k	1 in 160	≈ 1 in 4,700
Ashkenazi Jewish	~13k	≈ 1 in 13,000	none seen
Middle Eastern	~2,883	1 in 360	none seen

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 6 coding exons well covered in gnomAD exomes and genomes.? see exons ↓