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WCMC

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

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Locus annotations

Locus 97

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Cathepsin S cis Discovery rs41271951 1:150,737,220 A/G 0.09 997 -0.965 0.070 4.1×10-40 -1.180 4.9×10-34 1×10-15

 

Regional association plots

 

Boxplots and histograms for top associations

Cathepsin S

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

Cathepsin S

Target (abbrv.) Cathepsin S
Target (full name) Cathepsin S
Somalogic ID (Sequence ID) SL004673 (3181-50_2)
Entrez Gene Symbol CTSS
UniProt ID P25774
UniProt Comment
  • Thiol protease. Key protease responsible for the removal of the invariant chain from MHC class II molecules. The bond-specificity of this proteinase is in part similar to the specificities of cathepsin L and cathepsin N.
Reactome
  • Assembly of collagen fibrils and other multimeric structures
  • Degradation of the extracellular matrix
  • Endosomal/Vacuolar pathway
  • MHC class II antigen presentation
  • Trafficking and processing of endosomal TLR
Pathway Studio
  • MHC2-Mediated Antigen Presentation

All locus annotations are based on the sentinel SNP (rs41271951) and 2 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
Potentially regulated genes
  • CA14 carbonic anhydrase XIV
  • CTSK cathepsin K
eQTL genes
  • CTSS cathepsin S
  • SEMA6C sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6C

 

Results from other genome-wide association studies

Trait P Study Source
Schizophrenia 3.2×10-7 25056061 (PMID) Supplemental file
cg08856268 (chr1:150436971) 5.4×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs