HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 261

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PLXC1 cis Discovery rs7972001 12:94,623,502 C/T 0.03 993 -1.005 0.123 7.8×10-16 -1.200 5.3×10-15 8.8×10-6

 

Regional association plots

 

Boxplots and histograms for top associations

Plexin-C1 (PLXC1)

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

Plexin-C1 (PLXC1)

Target (abbrv.) PLXC1
Target (full name) Plexin-C1
Somalogic ID (Sequence ID) SL006406 (4564-2_2)
Entrez Gene Symbol PLXNC1
UniProt ID O60486
UniProt Comment
  • Receptor for SEMA7A, for smallpox semaphorin A39R, vaccinia virus semaphorin A39R and for herpesvirus Sema protein. Binding of semaphorins triggers cellular responses leading to the rearrangement of the cytoskeleton and to secretion of IL6 and IL8 (By similarity).
Reactome
  • Other semaphorin interactions

All locus annotations are based on the sentinel SNP (rs7972001) 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
eQTL genes
  • UBE2N ubiquitin-conjugating enzyme E2N

 

Results from other genome-wide association studies

Trait P Study Source
ibuprofen 2.1×10-5 24816252 (PMID) gwas.eu via SNiPA
HOMA-B 4.5×10-4 20081858 (PMID) GRASP2 nonQTL
beta-cell function 4.5×10-4 20081858 (PMID) Supplemental file