HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 317

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PCSK7 cis Discovery rs7083 11:117,156,552 C/T 0.41 996 0.332 0.044 6.3×10-14 1.090 9×10-12 2.2×10-5
PCSK7 cis Replication rs535602 11:117,107,775 G/A 0.19 337 0.343 0.090 1.7×10-4 1.130 2.1×10-4 0.001

 

Regional association plots

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

 

Boxplots and histograms for top associations

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

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

Proprotein convertase subtilisin/kexin type 7 (PCSK7)

Target (abbrv.) PCSK7
Target (full name) Proprotein convertase subtilisin/kexin type 7
Somalogic ID (Sequence ID) SL014069 (4459-68_2)
Entrez Gene Symbol PCSK7
UniProt ID Q16549
UniProt Comment
  • Likely to represent a ubiquitous endoprotease activity within constitutive secretory pathways and capable of cleavage at the RXXX[KR]R consensus motif.
Biomarker applications (based on IPA annotation)
  • unspecified application

All locus annotations are based on the sentinel SNP (rs7083) and 39 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
  • RNF214 ring finger protein 214
  • RP11-109L13.1
  • PCSK7 proprotein convertase subtilisin/kexin type 7
  • TAGLN transgelin
  • SIDT2 SID1 transmembrane family, member 2
  • BACE1 beta-site APP-cleaving enzyme 1

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of TAGLN in peripheral blood monocytes 2×10-23 20502693 (PMID) GRASP2 eQTL
Gene expression of TAGLN///PCSK7 in blood 7.5×10-20 21829388 (PMID) GRASP2 eQTL
Gene expression of SIDT2 in peripheral blood monocytes 1.2×10-18 20502693 (PMID) GRASP2 eQTL
"Gene expression of BACE1 [transcript NM_138972, probe A_23_P52806] in liver" 2×10-16 21637794 (PMID) GRASP2 eQTL
Gene expression of SIDT2 in blood 2.7×10-8 21829388 (PMID) GRASP2 eQTL
Gene expression of BACE1 in liver 1.3×10-5 18462017 (PMID) GRASP2 eQTL
Triglycerides 4.9×10-5 24097068 (PMID) Supplemental file
Total cholesterol 6.2×10-5 20686565 (PMID) GRASP2 nonQTL
Parkinson's disease 2.7×10-4 22451204 (PMID) GRASP2 nonQTL
HDL cholesterol 3×10-4 20686565 (PMID) GRASP2 nonQTL