HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
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)

 

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

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