PTX4

Chr 16

pentraxin 4

Also known as: C16orf38

This gene belongs to the pentraxin superfamily, whose members encode highly conserved multifunctional proteins. The encoded protein, like other members of this family, contains a conserved pentraxin domain at the C-terminus. The highest levels of expression of the protein were observed in bone marrow, small intestine and testes. [provided by RefSeq, Jun 2016]

OMIMResearchGenerating clinical summary…
0
Active trials
2
Pubs (1 yr)
P/LP submissions
P/LP missense
1.64
LOEUF
DN
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.64LOEUF
pLI 0.000
Z-score -0.43
OE 1.12 (0.771.64)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
-0.61Z-score
OE missense 1.10 (1.001.20)
334 obs / 304.1 exp
Tolerant

Tolerant to missense variation

Observed / Expected Ratios?
LoF OE?1.12 (0.771.64)
00.351.4
Missense OE?1.10 (1.001.20)
00.61.4
Synonymous OE?0.99
01.21.6
LoF obs/exp: 18 / 16.1Missense obs/exp: 334 / 304.1Syn Z: 0.05

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

PTX4 · 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 →