Protein Dossier — PPIE (Peptidyl-prolyl cis-trans isomerase E)
MR feasibility tier: A — Published pQTL-MR estimates exist for this protein (retrieved below - not computed here).
1. Published MR estimates (retrieved, not computed)
| Outcome |
beta |
se |
p |
method |
nSNP |
cis/trans |
coloc |
| Body mass index (BMI) |
-0.0185 |
0.00648 |
0.00424 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: vaginal prolapse or uterine prolapse |
0.182 |
0.0737 |
0.0138 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) |
0.621 |
0.265 |
0.019 |
Wald ratio |
1 |
cis |
NA |
| Subjective well being |
0.0183 |
0.00783 |
0.0196 |
Wald ratio |
1 |
cis |
NA |
| Glioma |
0.267 |
0.119 |
0.0253 |
Wald ratio |
1 |
cis |
NA |
| Urinary albumin-to-creatinine ratio |
0.0444 |
0.0201 |
0.0273 |
Wald ratio |
1 |
cis |
NA |
| Diastolic blood pressure automated reading |
-0.0147 |
0.00664 |
0.0273 |
Wald ratio |
1 |
cis |
NA |
| Endometrioid ovarian cancer |
0.174 |
0.0799 |
0.0295 |
Wald ratio |
1 |
cis |
NA |
| Amygdala volume |
13.6 |
6.27 |
0.0305 |
Wald ratio |
1 |
cis |
NA |
| Diagnoses - main ICD10: N81 Female genital prolapse |
0.105 |
0.0489 |
0.0312 |
Wald ratio |
1 |
cis |
NA |
| Non-cancer illness code self-reported: diverticular disease or diverticulitis |
0.115 |
0.0548 |
0.0366 |
Wald ratio |
1 |
cis |
NA |
| Heel bone mineral density (BMD) T-score automated |
0.0173 |
0.00838 |
0.0394 |
Wald ratio |
1 |
cis |
NA |
| …and 92 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-5238_26_3 |
PPIE |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
14 association rows across 9 traits (11 genome-wide significant rows). Associations are loci, not causal claims; the mapped gene at a locus is not necessarily the effector gene.
| Trait |
best p |
lead SNP |
n assoc |
study |
MR status |
| Peptidyl-prolyl cis-trans isomerase E levels |
5e-240 |
rs514868 |
6 |
GCST90249094 |
no MR -> candidate analysis |
| Peptidyl-prolyl cis-trans isomerase E levels (PPIE.5238.26.3 |
5e-53 |
rs12086750 |
1 |
GCST90242217 |
no MR -> candidate analysis |
| Serum levels of protein PPIE |
8e-44 |
rs3738673 |
1 |
GCST90088971 |
no MR -> candidate analysis |
| Blood protein levels |
4e-25 |
rs1046988 |
1 |
GCST006585 |
no MR -> candidate analysis |
| High-density lipoprotein levels (MTAG) |
1e-12 |
rs72665235 |
1 |
GCST90179147 |
no MR -> candidate analysis |
| Heel bone mineral density |
9e-10 |
rs76571594 |
1 |
GCST007066 |
MR: beta=0.0173, p=0.0394 (cis) |
| Gut microbiome abundance (class Bacteroides thetaiotaomicron |
6e-8 |
rs16826510 |
1 |
GCST90568673 |
no MR -> candidate analysis |
| Bone mineral density (Ward’s triangle area) |
4e-6 |
rs11577371 |
1 |
GCST003654 |
no MR -> candidate analysis |
| Cold sores |
7e-6 |
rs506424 |
1 |
GCST005000 |
no MR -> candidate analysis |
4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 75 total). Associations are loci, not causal claims. The causal-status column is a four-state triage per pair: established (curated) = a curated clinical assertion exists (ClinGen/G2P/GEL/Orphanet/ClinVar — any validity level, MR adds little); exploratory rare-variant signal = ExWAS burden evidence without curation — a candidate NEW gene-disease relationship; common-variant locus = GWAS signal, classic pQTL-MR territory; multi-layer = burden+GWAS together, an allelic-series candidate (the strongest causal setup). Burden estimand is carrier-vs-noncarrier, not per-SD MR.
| Disease |
genetic assoc. |
burden (ExWAS) |
causal status |
MR status |
| diabetes mellitus |
0.15 |
— |
common-variant locus |
no MR -> candidate analysis |
| sleep apnea syndrome |
0.069 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of the gastrointestinal tract |
0.05 |
— |
common-variant locus |
no MR -> candidate analysis |
Of the 3 rows above, 3 have no MR estimate in this resource. Across all retrieved diseases for this gene: 0 exploratory rare-variant signal(s), 0 multi-layer (allelic-series candidate) pair(s). Final triage still belongs to a statistical geneticist.
5. Downstream annotation (druggability & safety preview)
| Layer |
Result |
| ChEMBL druggability |
0 known modulators (Peptidyl-prolyl cis-trans isomerase E) |
| gnomAD constraint |
pLI=0.0024, LOEUF=0.757 — LoF-tolerant |
| GWAS Catalog |
64 unique SNPs / 105 rows |
| ClinVar |
91 records; 0 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 75 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.chembl — ChEMBL target matched by text search on ‘PPIE’ and resolved to ‘Peptidyl-prolyl cis-trans isomerase E’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 91 ClinVar records for this gene; it is a sample, not a rate.pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).gwas_traits — Top 9 of 9 traits by best p-value, aggregated from 14 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.
Sources
uniprot: https://www.uniprot.org/uniprotkb/Q9UNP9 — UniProt release 2026_02 (10-June-2026)mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0phenome: https://platform.opentargets.org/target/ENSG00000084072/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6066227/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/PPIE — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/PPIE — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=PPIE%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/PPIE — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T04:34:15 · Tier: A
- Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
- MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
- Tool errors this run: none