DAPP1

Chr 4

dual adaptor of phosphotyrosine and 3-phosphoinositides 1

Also known as: BAM32

NCBI Gene: 27071ENSG00000070190UniProt: Q9UN19OMIM: 605768

Enables phosphatidylinositol-3,4,5-trisphosphate binding activity and phosphatidylinositol-3,4-bisphosphate binding activity. Predicted to be involved in protein dephosphorylation and signal transduction. Located in plasma membrane. [provided by Alliance of Genome Resources, Jul 2025]

OMIMResearchGenerating 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.
0
Active trials
8
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
0.61
LOEUF
Multiple*
Mechanism· predicted

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
0.61LOEUF
pLI 0.172
Z-score 2.63
OE 0.27 (0.13–0.61)
Tolerant

Typical tolerance to LoF variation

Missense Constraint?
1.87Z-score
OE missense 0.56 (0.47–0.67)
80 obs / 142.9 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.27 (0.13–0.61)
0≤0.351.4
Missense OE?0.56 (0.47–0.67)
0≤0.61.4
Synonymous OE?0.98
0≤1.21.6
LoF obs/exp: 4 / 15.0Missense obs/exp: 80 / 142.9Syn Z: 0.11

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

DAPP1 · 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

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients