HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 182

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
RAP trans Discovery rs17220241 6:32,822,244 G/T 0.02 997 1.387 0.141 9.6×10-22 2.050 1.8×10-58 4.6×10-55
RAP trans Replication rs16871037 6:32,819,225 C/G 0.05 337 0.540 0.122 1.3×10-5 1.300 2.3×10-7 1.8×10-6

 

Regional association plots

alpha-2-macroglobulin receptor-associated protein (RAP)

 

Boxplots and histograms for top associations

alpha-2-macroglobulin receptor-associated protein (RAP)

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

alpha-2-macroglobulin receptor-associated protein (RAP)

Target (abbrv.) RAP
Target (full name) alpha-2-macroglobulin receptor-associated protein
Somalogic ID (Sequence ID) SL005263 (3640-14_3)
Entrez Gene Symbol LRPAP1
UniProt ID P30533
UniProt Comment
  • Interacts with LRP1/alpha-2-macroglobulin receptor and glycoprotein 330.
Pathway Interaction Database
  • Lissencephaly gene (LIS1) in neuronal migration and development
  • Reelin signaling pathway
  • Signaling events mediated by the Hedgehog family

All locus annotations are based on the sentinel SNP (rs17220241) and 13 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
  • TAP2 transporter 2, ATP-binding cassette, sub-family B (MDR/TAP)
  • PSMB9 proteasome (prosome, macropain) subunit, beta type, 9
  • PSMB8-AS1 PSMB8 antisense RNA 1 (head to head)
  • XXbac-BPG246D15.9
  • TAP1 transporter 1, ATP-binding cassette, sub-family B (MDR/TAP)
  • PSMB8 proteasome (prosome, macropain) subunit, beta type, 8
  • HLA-Z major histocompatibility complex, class I, Z (pseudogene)
Potentially regulated genes

 

Results from other genome-wide association studies

No associations available.

Possible link between cis-variants and protein levels of LRPAP1

This locus harbours a replicated trans-pQTL to alpha-2-macroglobulin receptor-associated protein (LRPAP1).

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.