HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 215

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Calpain I cis Discovery rs10895987 11:64,904,908 C/T 0.23 995 -0.459 0.051 1×10-18 -1.120 1.2×10-15 1.1×10-15
Calpain I cis Replication rs7113761 11:64,926,722 G/A 0.13 337 -0.196 0.050 1.2×10-4 -1.130 1.8×10-6 2.1×10-5

 

Regional association plots

 

Boxplots and histograms for top associations

Calpain I

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

Calpain I

Target (abbrv.) Calpain I
Target (full name) Calpain I
Somalogic ID (Sequence ID) SL000337 (2668-70_2)
Entrez Gene Symbol CAPN1, CAPNS1
UniProt ID P07384, P04632
UniProt Comment
  • P07384: Calcium-regulated non-lysosomal thiol-protease which catalyze limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
  • P04632: Regulatory subunit of the calcium-regulated non-lysosomal thiol-protease which catalyzes limited proteolysis of substrates involved in cytoskeletal remodeling and signal transduction.
Wiki Pathways
  • Alzheimers Disease
  • Focal Adhesion
  • Integrin-mediated cell adhesion
Pathway Interaction Database
  • Signaling events mediated by PTP1B
Reactome
  • Degradation of the extracellular matrix
Pathway Studio
  • Focal Junction Assembly

All locus annotations are based on the sentinel SNP (rs10895987) 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
  • VPS51 vacuolar protein sorting 51 homolog (S. cerevisiae)
  • TM7SF2 transmembrane 7 superfamily member 2
  • AP003068.9
  • SYVN1 synovial apoptosis inhibitor 1, synoviolin
  • MIR6751 microRNA 6751
  • MRPL49 mitochondrial ribosomal protein L49
  • RNU2-23P RNA, U2 small nuclear 23, pseudogene
  • HIGD1AP10 HIG1 hypoxia inducible domain family, member 1A pseudogene 10
  • PDCL2P2 phosducin-like 2 pseudogene 2
  • AP003068.18
  • SPDYC speedy/RINGO cell cycle regulator family member C
Potentially regulated genes
  • SIPA1 signal-induced proliferation-associated 1
  • SAC3D1 SAC3 domain containing 1
  • SYVN1 synovial apoptosis inhibitor 1, synoviolin
  • MEN1 multiple endocrine neoplasia I
  • CDCA5 cell division cycle associated 5
  • MEN1
eQTL genes
  • SPDYC speedy/RINGO cell cycle regulator family member C
  • ARL2 ADP-ribosylation factor-like 2
  • NAALADL1 N-acetylated alpha-linked acidic dipeptidase-like 1

 

Results from other genome-wide association studies

Trait P Study Source
cg09175289 (chr11:64879104) 1.2×10-32 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg25157291 (chr11:64940233) 3.6×10-32 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of SPDYC in peripheral blood monocytes 1.9×10-30 20502693 (PMID) GRASP2 eQTL
Gene expression of CAPN1 in blood 1.2×10-22 21829388 (PMID) GRASP2 eQTL
cg00477365 (chr11:64937084) 1×10-20 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg20277416 (chr11:64879085) 4×10-12 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of CAPN1 in peripheral blood monocytes 2.4×10-8 20502693 (PMID) GRASP2 eQTL
Height 1.3×10-7 25282103 (PMID) Supplemental file
cg25363789 (chr11:64949902) 2.8×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg24020549 (chr11:64937717) 5.9×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg03196265 (chr11:64937546) 9.8×10-7 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of DPF2 in blood 4.5×10-6 21829388 (PMID) GRASP2 eQTL
Differential exon level expression of C11orf2 [probe 3334874] in brain cortex 2.1×10-5 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of CAPN1 [probe 3334995] in brain cortex 4.1×10-5 19222302 (PMID) GRASP2 eQTL
cg03488587 (chr11:64876964) 8.2×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Type 2 diabetes, combined control dataset 2.3×10-4 17554300 (PMID) GRASP2 nonQTL