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WCMC

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

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Locus annotations

Locus 238

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ARTS1 cis Discovery rs12520053 5:96,167,485 T/C 0.16 996 0.512 0.060 3.6×10-17 1.220 1.1×10-14 6.2×10-18
ARTS1 cis Replication rs12520537 5:96,163,905 A/G 0.22 337 0.263 0.082 0.001 1.120 0.006 0.001

 

Regional association plots

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

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

Endoplasmic reticulum aminopeptidase 1 (ARTS1)

Target (abbrv.) ARTS1
Target (full name) Endoplasmic reticulum aminopeptidase 1
Somalogic ID (Sequence ID) SL007729 (4964-67_1)
Entrez Gene Symbol ERAP1
UniProt ID Q9NZ08
UniProt Comment
  • Aminopeptidase that plays a central role in peptide trimming, a step required for the generation of most HLA class I-binding peptides. Peptide trimming is essential to customize longer precursor peptides to fit them to the correct length required for presentation on MHC class I molecules. Strongly prefers substrates 9-16 residues long. Rapidly degrades 13-mer to a 9-mer and then stops. Preferentially hydrolyzes the residue Leu and peptides with a hydrophobic C-terminus, while it has weak activity toward peptides with charged C-terminus. May play a role in the inactivation of peptide hormones. May be involved in the regulation of blood pressure through the inactivation of angiotensin II and/or the generation of bradykinin in the kidney.
Reactome
  • Antigen Presentation: Folding, assembly and peptide loading of class I MHC

All locus annotations are based on the sentinel SNP (rs12520053) and 9 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
  • LIX1 Lix1 homolog (chicken)
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of LRAP in blood 5.2×10-9 21829388 (PMID) GRASP2 eQTL
Differential exon level expression of ERAP1 [probe 2868173] in peripheral blood mononuclear cells 2×10-6 19222302 (PMID) GRASP2 eQTL
Topiramate plasma level change in healthy volunteers in response to topiramate treatment 5.7×10-5 22091778 (PMID) GRASP2 nonQTL