HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 42

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
EphA1 cis Discovery rs4725617 7:143,097,100 G/A 0.09 997 -1.330 0.064 2.9×10-80 -1.700 7×10-101 7.5×10-61
EphA1 cis Replication rs4283960 7:143,103,380 G/A 0.08 337 -0.066 0.109 0.547 -1.010 0.81 0.458

 

Regional association plots

 

Boxplots and histograms for top associations

Ephrin type-A receptor 1 (EphA1)

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

Ephrin type-A receptor 1 (EphA1)

Target (abbrv.) EphA1
Target (full name) Ephrin type-A receptor 1
Somalogic ID (Sequence ID) SL004137 (3431-54_2)
Entrez Gene Symbol EPHA1
UniProt ID P21709
UniProt Comment
  • Receptor tyrosine kinase which binds promiscuously membrane-bound ephrin-A family ligands residing on adjacent cells, leading to contact-dependent bidirectional signaling into neighboring cells. The signaling pathway downstream of the receptor is referred to as forward signaling while the signaling pathway downstream of the ephrin ligand is referred to as reverse signaling. Binds with a low affinity EFNA3 and EFNA4 and with a high affinity to EFNA1 which most probably constitutes its cognate/functional ligand. Upon activation by EFNA1 induces cell attachment to the extracellular matrix inhibiting cell spreading and motility through regulation of ILK and downstream RHOA and RAC. Plays also a role in angiogenesis and regulates cell proliferation. May play a role in apoptosis.
Pathway Interaction Database
  • EPHA forward signaling
Reactome
  • EPH-Ephrin signaling
  • EPH-ephrin mediated repulsion of cells
  • EPHA-mediated growth cone collapse
  • POU5F1 (OCT4), SOX2, NANOG activate genes related to proliferation

All locus annotations are based on the sentinel SNP (rs4725617) and 9 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
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of ZYX///EPHA1 in blood 3.5×10-14 21829388 (PMID) GRASP2 eQTL
cg11291798 (chr7:143103883) 3×10-12 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
P21709 protein abundance levels 10×10-5 22595970 (PMID) GRASP2 pQTL