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

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Locus annotations

Locus 380

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
FN1.3 cis Discovery rs35233997 2:216,238,970 T/- 0.30 994 0.326 0.046 2.5×10-12 1.040 2.6×10-11 2×10-10
FN1.3 cis Replication rs7588661 2:216,253,454 G/A 0.48 337 -0.249 0.076 0.001 -1.040 0.003 0.004

 

Regional association plots

 

Boxplots and histograms for top associations

Fibronectin Fragment 3 (FN1.3)

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

Fibronectin Fragment 3 (FN1.3)

Target (abbrv.) FN1.3
Target (full name) Fibronectin Fragment 3
Somalogic ID (Sequence ID) SL010349 (3434-34_1)
Entrez Gene Symbol FN1
UniProt ID P02751
UniProt Comment
  • Fibronectins bind cell surfaces and various compounds including collagen, fibrin, heparin, DNA, and actin. Fibronectins are involved in cell adhesion, cell motility, opsonization, wound healing, and maintenance of cell shape. Involved in osteoblast compaction through the fibronectin fibrillogenesis cell-mediated matrix assembly process, essential for osteoblast mineralization. Participates in the regulation of type I collagen deposition by osteoblasts.
Targeted by drugs (based on IPA annotation)
  • ocriplasmin
Biomarker applications (based on IPA annotation)
  • diagnosis
  • efficacy
  • prognosis
  • unspecified application
Wiki Pathways
  • Focal Adhesion
  • Inflammatory Response Pathway
  • Regulation of Actin Cytoskeleton
  • Senescence and Autophagy
Pathway Interaction Database
  • Alpha4 beta1 integrin signaling events
  • Alpha9 beta1 integrin signaling events
  • Angiopoietin receptor Tie2-mediated signaling
  • Beta1 integrin cell surface interactions
  • Beta3 integrin cell surface interactions
  • Beta5 beta6 beta7 and beta8 integrin cell surface interactions
  • Integrins in angiogenesis
  • Syndecan-2-mediated signaling events
  • Syndecan-4-mediated signaling events
  • Urokinase-type plasminogen activator (uPA) and uPAR-mediated signaling
  • VEGFR3 signaling in lymphatic endothelium
Reactome
  • Cell surface interactions at the vascular wall
  • Degradation of the extracellular matrix
  • ECM proteoglycans
  • Extracellular matrix organization
  • Fibronectin matrix formation
  • GRB2:SOS provides linkage to MAPK signaling for Integrins
  • Integrin alphaIIb beta3 signaling
  • Integrin cell surface interactions
  • Molecules associated with elastic fibres
  • Non-integrin membrane-ECM interactions
  • Platelet degranulation
  • Syndecan interactions
  • p130Cas linkage to MAPK signaling for integrins
Pathway Studio
  • Extracellular Matrix Turnover
  • FibronectinR → AP-1/ELK-SRF/SREBF signaling
  • FibronectinR → CTNNB signaling
  • FibronectinR → ICAP-1A/MYC signaling
  • FibronectinR → NF-kB signaling
  • Focal Junction Assembly
  • Natural Killer Cell Activation through Integrins and non-ITAM-Containing Receptors

All locus annotations are based on the sentinel SNP (rs35233997).
However, the sentinel SNP is not contained in SNiPA's database (1000 Genomes Project, phase 3 version 5, European population). Thus, no information about linked genes or further functional annotation is available.

 

Results from other genome-wide association studies


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No associations available.