HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 348

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Trypsin 2 trans Discovery rs3134906 7:142,505,154 G/A 0.50 995 0.308 0.042 4.2×10-13 1.130 5.4×10-13 4.2×10-11
Trypsin 2 trans Replication rs3134906 7:142,505,154 G/A 0.38 337 0.147 0.077 0.058 1.080 0.059 0.156

 

Regional association plots

 

Boxplots and histograms for top associations

Trypsin-2 (Trypsin 2)

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

Trypsin-2 (Trypsin 2)

Target (abbrv.) Trypsin 2
Target (full name) Trypsin-2
Somalogic ID (Sequence ID) SL010388 (5034-79_1)
Entrez Gene Symbol PRSS2
UniProt ID P07478
UniProt Comment
  • In the ileum, may be involved in defensin processing, including DEFA5.
Reactome
  • Activation of Matrix Metalloproteinases
  • Alpha-defensins
  • Collagen degradation

All locus annotations are based on the sentinel SNP (rs3134906) and 7 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
  • TRBV30 T cell receptor beta variable 30 (gene/pseudogene)
Potentially regulated genes
  • TRBV8-1 T cell receptor beta variable 8-1 (pseudogene)
  • TRBV3-1 T cell receptor beta variable 3-1
  • TRBC2
  • TRBV22-1 T cell receptor beta variable 22-1 (pseudogene)
  • TRBV28
  • TRBJ2-2 T cell receptor beta joining 2-2
  • TRBV27 T cell receptor beta variable 27
  • TRBV4-1 T cell receptor beta variable 4-1
  • TRBJ2-2P T cell receptor beta joining 2-2P (non-functional)
  • TRPV5
  • TRBJ2-1 T cell receptor beta joining 2-1
  • TRPV5 transient receptor potential cation channel, subfamily V, member 5
  • TRBVA T cell receptor beta variable A (pseudogene)
  • TRBV5-1 T cell receptor beta variable 5-1
  • TRBV10-2 T cell receptor beta variable 10-2
  • TRBV25-1
  • TRBV7-6 T cell receptor beta variable 7-6
  • TRBV24-1 T cell receptor beta variable 24-1
  • TRBV4-2 T cell receptor beta variable 4-2
  • TRBV29-1 T cell receptor beta variable 29-1
  • TRBJ2-5 T cell receptor beta joining 2-5
  • TRBJ2-4 T cell receptor beta joining 2-4
  • TRBV7-7 T cell receptor beta variable 7-7
  • TRBJ2-7 T cell receptor beta joining 2-7
  • TRBJ2-6 T cell receptor beta joining 2-6
  • TRBV7-1 T cell receptor beta variable 7-1 (non-functional)
  • TRBV5-3 T cell receptor beta variable 5-3 (non-functional)
  • TRBV7-3
eQTL genes
  • TRBV30 T cell receptor beta variable 30 (gene/pseudogene)
  • EPHB6 EPH receptor B6

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of [probe 6280750 centered at chr7:142207470] in blood 4.6×10-21 21829388 (PMID) GRASP2 eQTL
Gene expression of ENST00000390401 in blood 1.4×10-9 21829388 (PMID) GRASP2 eQTL
Gene expression of EPHB6 in peripheral blood monocytes 6.4×10-9 20502693 (PMID) GRASP2 eQTL
Gene expression of ENST00000390418///ENST00000390419 in blood 1.8×10-6 21829388 (PMID) GRASP2 eQTL
Gene expression of C7orf34///KEL in blood 1.7×10-4 21829388 (PMID) GRASP2 eQTL
Gene expression of ENST00000390392 in blood 3.2×10-4 21829388 (PMID) GRASP2 eQTL

Functional match between the T cell receptor beta locus and T-cell receptor beta variable and joining genes.

Non-replicated trans-association with Trypsin-2 (PRSS2). Cis-SNP is in T-cell receptor beta variable and joining repertoire. PRSS2 is localized to the T cell receptor beta locus on chromosome 7. Functional match between the T cell receptor beta locus and T-cell receptor beta variable and joining genes.

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.