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WCMC

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

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Locus annotations

Locus 57

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Semaphorin 3E cis Discovery rs17284969 7:83,006,262 G/A 0.12 991 -1.072 0.058 2.4×10-65 -1.590 7.3×10-63 6.9×10-10
Semaphorin 3E cis Replication rs3801506 7:83,047,883 G/A 0.15 337 -0.729 0.081 1.9×10-17 -1.330 8.9×10-12 0.507

 

Regional association plots

 

Boxplots and histograms for top associations

Semaphorin-3E (Semaphorin 3E)

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

Semaphorin-3E (Semaphorin 3E)

Target (abbrv.) Semaphorin 3E
Target (full name) Semaphorin-3E
Somalogic ID (Sequence ID) SL010470 (5363-51_3)
Entrez Gene Symbol SEMA3E
UniProt ID O15041
UniProt Comment
  • Plays an important role in signaling via the cell surface receptor PLXND1. Mediates reorganization of the actin cytoskeleton, leading to the retraction of cell projections. Promotes focal adhesion disassembly and inhibits adhesion of endothelial cells to the extracellular matrix. Regulates angiogenesis, both during embryogenesis and after birth. Can down-regulate sprouting angiogenesis. Required for normal vascular patterning during embryogenesis. Plays an important role in ensuring the specificity of synapse formation (By similarity).
Pathway Interaction Database
  • Plexin-D1 Signaling
Reactome
  • Other semaphorin interactions

All locus annotations are based on the sentinel SNP (rs17284969) and 29 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
  • SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
  • AC079987.2
Potentially regulated genes
  • SEMA3E sema domain, immunoglobulin domain (Ig), short basic domain, secreted, (semaphorin) 3E
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Neuroticism 2.2×10-4 25993607 (PMID) Supplemental file
Major depressive disorder (narrow definition) 2.7×10-4 20038947 (PMID) GRASP2 nonQTL