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Connecting genetic risk to disease endpoints through the human blood plasma proteome

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Locus annotations

Locus 224

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DAPK2 cis Discovery rs922182 15:64,277,642 C/T 0.45 994 0.377 0.042 3.1×10-18 1.070 5.8×10-8 0.268
DAPK2 cis Replication rs9972509 15:64,284,214 A/C 0.16 337 0.077 0.082 0.349 1.030 0.231 0.263

 

Regional association plots

Death-associated protein kinase 2 (DAPK2)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Death-associated protein kinase 2 (DAPK2)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study
Replication study

Death-associated protein kinase 2 (DAPK2)

Target (abbrv.) DAPK2
Target (full name) Death-associated protein kinase 2
Somalogic ID (Sequence ID) SL007752 (4355-13_1)
Entrez Gene Symbol DAPK2
UniProt ID Q9UIK4
UniProt Comment
  • Calcium/calmodulin-dependent serine/threonine kinase involved in multiple cellular signaling pathways that trigger cell survival, apoptosis, and autophagy. Regulates both type I apoptotic and type II autophagic cell death signals, depending on the cellular setting. The former is caspase-dependent, while the latter is caspase-independent and is characterized by the accumulation of autophagic vesicles. Acts as a mediator of anoikis and a suppressor of beta-catenin-dependent anchorage-independent growth of malignant epithelial cells. May play a role in granulocytic maturation (PubMed:17347302). Regulates granulocytic motility by controlling cell spreading and polarization (PubMed:24163421).
Reactome
  • Ligand-independent caspase activation via DCC

All locus annotations are based on the sentinel SNP (rs922182) and 10 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes


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Genes hit or close-by
  • DAPK2 death-associated protein kinase 2
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
cg13645296 (chr15:64275786) 3.6×10-38 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of DAPK2 in blood 2×10-17 21829388 (PMID) GRASP2 eQTL
cg26167930 (chr15:64363705) 9.5×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs