HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 47

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Tenascin cis Discovery rs45602433 9:117,835,899 C/T 0.15 993 1.050 0.053 3.9×10-74 1.330 7.1×10-77 3.6×10-83
Tenascin cis Replication rs12342409 9:117,832,975 C/A 0.23 337 0.302 0.077 1.1×10-4 1.120 1×10-4 2.7×10-4

 

Regional association plots

 

Boxplots and histograms for top associations

Tenascin

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

Tenascin

Target (abbrv.) Tenascin
Target (full name) Tenascin
Somalogic ID (Sequence ID) SL003198 (4155-3_2)
Entrez Gene Symbol TNC
UniProt ID P24821
UniProt Comment
  • Extracellular matrix protein implicated in guidance of migrating neurons as well as axons during development, synaptic plasticity as well as neuronal regeneration. Promotes neurite outgrowth from cortical neurons grown on a monolayer of astrocytes. Ligand for integrins alpha-8/beta-1, alpha-9/beta-1, alpha-V/beta-3 and alpha-V/beta-6.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • response to therapy
Wiki Pathways
  • Focal Adhesion
Pathway Interaction Database
  • Alpha9 beta1 integrin signaling events
  • Beta1 integrin cell surface interactions
  • Beta3 integrin cell surface interactions
  • Syndecan-4-mediated signaling events
Reactome
  • ECM proteoglycans
  • Integrin cell surface interactions
  • Syndecan interactions

All locus annotations are based on the sentinel SNP (rs45602433) and 3 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
  • TNC tenascin C

 

Results from other genome-wide association studies

Trait P Study Source
P24821 protein abundance levels 1.5×10-17 22595970 (PMID) GRASP2 pQTL