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

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Locus annotations

Locus 365

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
C8 cis Discovery rs1013579 1:57,422,484 T/C 0.04 997 -0.794 0.110 9.3×10-13 -1.120 4.5×10-7 0.066
NXPH1 trans Discovery rs1013579 1:57,422,484 T/C 0.04 997 -0.721 0.110 1×10-10 -1.220 2.1×10-10 9.2×10-8

 

Regional association plots

 

Boxplots and histograms for top associations

Complement component C8 (C8)

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

Neurexophilin-1 (NXPH1)

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

Complement component C8 (C8)

Target (abbrv.) C8
Target (full name) Complement component C8
Somalogic ID (Sequence ID) SL000324 (2429-27_4)
Entrez Gene Symbol C8A, C8B, C8G
UniProt ID P07357, P07358, P07360
UniProt Comment
  • P07357: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells. C8A inserts into the target membrane, but does not form pores by itself.
  • P07358: Constituent of the membrane attack complex (MAC) that plays a key role in the innate and adaptive immune response by forming pores in the plasma membrane of target cells.
  • P07360: C8 is a constituent of the membrane attack complex. C8 binds to the C5B-7 complex, forming the C5B-8 complex. C5-B8 binds C9 and acts as a catalyst in the polymerization of C9. The gamma subunit seems to be able to bind retinol.
Wiki Pathways
  • Complement Activation, Classical Pathway
Reactome
  • Regulation of Complement cascade
  • Terminal pathway of complement

Neurexophilin-1 (NXPH1)

Target (abbrv.) NXPH1
Target (full name) Neurexophilin-1
Somalogic ID (Sequence ID) SL012457 (4562-1_2)
Entrez Gene Symbol NXPH1
UniProt ID P58417
UniProt Comment
  • May be signaling molecules that resemble neuropeptides and that act by binding to alpha-neurexins and possibly other receptors.

All locus annotations are based on the sentinel SNP (rs1013579).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • C8B complement component 8, beta polypeptide