ENDOU

Chr 12

endonuclease, poly(U) specific

Also known as: P11, PP11, PRSS26

This gene encodes a protein with endoribonuclease activity that binds polyuridine-enriched single-stranded RNA. This gene was initially characterized based on its high expression in placenta but was mischaracterized as a serine protease. In mouse, this gene promotes tolerance to self-antigens by regulating B cell activation-induced cell death (AICD). The protein may be useful as a tumor marker. Multiple alternatively spliced transcript variants encoding distinct protein isoforms have been found for this gene. [provided by RefSeq, Jul 2020]

GeneReviewsOMIMResearchGenerating clinical summary…
0
Active trials
15
Pubs (1 yr)
P/LP submissions
P/LP missense
1.30
LOEUF
Mechanism
📖
GeneReview available — ENDOU
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.30LOEUF
pLI 0.000
Z-score 0.40
OE 0.91 (0.651.30)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.65Z-score
OE missense 0.88 (0.790.99)
207 obs / 235.2 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.91 (0.651.30)
00.351.4
Missense OE?0.88 (0.790.99)
00.61.4
Synonymous OE?0.89
01.21.6
LoF obs/exp: 22 / 24.1Missense obs/exp: 207 / 235.2Syn Z: 0.80

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

ENDOU · 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.

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