ZMAT1

Chr X

zinc finger matrin-type 1

This gene encodes a protein containing Cys2-His2 (C2H2)-type zinc fingers, which are similar to those found in the nuclear matrix protein matrin 3. Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Jan 2012]

ResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
0.78
LOEUF
DN
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?
0.78LOEUF
pLI 0.001
Z-score 2.26
OE 0.43 (0.250.78)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
0.44Z-score
OE missense 0.91 (0.811.03)
187 obs / 204.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.43 (0.250.78)
00.351.4
Missense OE?0.91 (0.811.03)
00.61.4
Synonymous OE?0.92
01.21.6
LoF obs/exp: 8 / 18.5Missense obs/exp: 187 / 204.9Syn Z: 0.54

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ZMAT1 · 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.

Search ClinicalTrials.gov →