DPPA2

Chr 3

developmental pluripotency associated 2

Binds to target gene promoters, including NKX2-5 and SYCE1, but not GATA4, and may be involved in the maintenance of the active epigenetic status of these genes

OMIMResearchGenerating clinical summary…
LOEUF 1.35
Clinical SummaryDPPA2
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
Some data sources returned errors (1)

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

Tolerant — LoF & missense variants common in population
LoF Constraint?
1.35LOEUF
pLI 0.000
Z-score 0.50
OE 0.87 (0.571.35)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
0.16Z-score
OE missense 0.96 (0.851.10)
162 obs / 168.0 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.87 (0.571.35)
00.351.4
Missense OE?0.96 (0.851.10)
00.61.4
Synonymous OE?0.96
01.21.6
LoF obs/exp: 14 / 16.1Missense obs/exp: 162 / 168.0Syn Z: 0.22

ClinVar Variant Classifications

0 submitted variants in ClinVar

Protein Context — Lollipop Plot

DPPA2 · 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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