HelmholtzZentrum munich
WCMC

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

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Locus annotations

Locus 171

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PPIE cis Discovery rs9787249 1:40,212,878 G/A 0.38 993 -0.460 0.045 8.9×10-24 -1.140 7×10-14 0.28
PPIE cis Replication rs12074147 1:40,203,722 A/G 0.26 337 -0.146 0.046 0.002 -1.100 1.6×10-4 4.6×10-7

 

Regional association plots

Peptidyl-prolyl cis-trans isomerase E (PPIE)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Peptidyl-prolyl cis-trans isomerase E (PPIE)

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

Peptidyl-prolyl cis-trans isomerase E (PPIE)

Target (abbrv.) PPIE
Target (full name) Peptidyl-prolyl cis-trans isomerase E
Somalogic ID (Sequence ID) SL013928 (5238-26_3)
Entrez Gene Symbol PPIE
UniProt ID Q9UNP9
UniProt Comment
  • PPIases accelerate the folding of proteins. It catalyzes the cis-trans isomerization of proline imidic peptide bonds in oligopeptides. Combines RNA-binding and PPIase activities. May be involved in muscle- and brain-specific processes. May be involved in pre-mRNA splicing.

All locus annotations are based on the sentinel SNP (rs9787249) and 20 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
  • PPIE peptidylprolyl isomerase E (cyclophilin E)
  • BMP8B bone morphogenetic protein 8b
Potentially regulated genes
  • PPIE peptidylprolyl isomerase E (cyclophilin E)
  • MACF1 microtubule-actin crosslinking factor 1
eQTL genes
  • OXCT2 3-oxoacid CoA transferase 2
  • BMP8B bone morphogenetic protein 8b
  • PPIE peptidylprolyl isomerase E (cyclophilin E)

 

Results from other genome-wide association studies

Trait P Study Source
cg19912559 (chr1:40204306) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg24920358 (chr1:40204309) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg12051614 (chr1:40205260) 1.9×10-217 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of PPIE in blood 1.2×10-185 21829388 (PMID) GRASP2 eQTL
Methylation levels at chr1:39976872-39976922 [hg18 coord, probe cg24920358] in Temporal cortex 3.8×10-35 20485568 (PMID) GRASP2 meQTL
Methylation levels at chr1:39976872-39976922 [hg18 coord, probe cg24920358] in Caudal pons 1.4×10-29 20485568 (PMID) GRASP2 meQTL
Methylation levels at chr1:39976872-39976922 [hg18 coord, probe cg24920358] in Frontal cortex 1.7×10-26 20485568 (PMID) GRASP2 meQTL
Gene expression of PPIE in normal prepouch ileum 6.2×10-21 23474282 (PMID) GRASP2 eQTL
Differential exon level expression of PPIE [probeset 2331628] in peripheral blood mononuclear cells 1.1×10-19 19222302 (PMID) GRASP2 eQTL
Gene expression of BMP8B [probe 235275_at] in lymphoblastoid cell lines 1.6×10-17 17873877 (PMID) GRASP2 eQTL
Gene expression of PPIE [probe 202494_at] in lymphoblastoid cell lines 4.5×10-16 17873877 (PMID) GRASP2 eQTL
Methylation levels at chr1:39976872-39976922 [hg18 coord, probe cg24920358] in Cerebellum 1.1×10-13 20485568 (PMID) GRASP2 meQTL
Gene expression of PPIE in lymphoblastoid cell lines 1.7×10-11 18193047 (PMID) GRASP2 eQTL
Gene expression of ENST00000331856///PPIE in blood 2.6×10-10 21829388 (PMID) GRASP2 eQTL
Gene expression of PPIE in Caudal pons 5.3×10-9 20485568 (PMID) GRASP2 eQTL
Gene expression of OXCT2 in peripheral blood monocytes 5.2×10-8 20502693 (PMID) GRASP2 eQTL
Gene expression of PPIE in blood cells in Celiac disease 1×10-6 19128478 (PMID) GRASP2 eQTL
Differential exon level expression of PPIE [probeset 2331628] in brain cortex 1.3×10-6 19222302 (PMID) GRASP2 eQTL
Gene expression of PPIE (probeID ILMN_2326737) in breast tumors 2.1×10-6 22522925 (PMID) GRASP2 eQTL
Serum ratio of (benzoate)/(hydroquinone sulfate) 8.8×10-6 21886157 (PMID) GRASP2 metabQTL
cg24358529 (chr1:40204638) 1.3×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of OXCT2 in Lymphoblastoid cell lines 1.9×10-5 19644074 (PMID) GRASP2 eQTL
Gene expression of PPIE (ENSG00000084072) in dendritic cells treated with Mycobacterium tuberculosis 9.4×10-5 22233810 (PMID) GRASP2 eQTL