CausalSentinel

Protein Dossier — FKBP7 (Peptidyl-prolyl cis-trans isomerase FKBP7)

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
Height 0.0274 0.00986 0.00547 Wald ratio 1 cis NA
Small vessel disease -0.334 0.123 0.00675 Wald ratio 1 cis NA
Forced expiratory volume in 1-second (FEV1) 0.0168 0.00725 0.0204 Wald ratio 1 cis NA
Childhood intelligence 0.101 0.0447 0.0244 Wald ratio 1 cis NA
Alcohol intake frequency -0.027 0.0124 0.0289 Wald ratio 1 cis NA
Diagnoses - main ICD10: R07 Pain in throat and chest 0.0753 0.0347 0.0299 Wald ratio 1 cis NA
Microalbuminuria 0.148 0.0685 0.0308 Wald ratio 1 cis NA
Bulimia nervosa -0.0575 0.0274 0.0357 Wald ratio 1 cis NA
Diagnoses - main ICD10: B37 Candidiasis 0.53 0.253 0.0363 Wald ratio 1 cis NA
Cigarettes smoked per day -0.577 0.279 0.0387 Wald ratio 1 cis NA
Urinary albumin-to-creatinine ratio 0.0411 0.02 0.0399 Wald ratio 1 cis NA
Systolic blood pressure automated reading -0.0176 0.00857 0.0399 Wald ratio 1 cis NA
…and 85 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

No prot-* pQTL GWAS dataset found for this protein (matched by UniProt accession and symbol).

3. GWAS Catalog results — traits with signal at this locus

14 association rows across 11 traits (14 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 FKBP7 levels 5e-195 rs6704545 1 GCST90248949 no MR -> candidate analysis
Serum levels of protein FKBP7 2e-61 rs6710856 1 GCST90090609 no MR -> candidate analysis
Height 1e-53 rs2288323 2 GCST90245848 MR: beta=0.0274, p=0.00547 (cis)
Peptidyl-prolyl cis-trans isomerase FKBP7 level in Chronic k 1e-25 rs3214535 1 GCST90239293 no MR -> candidate analysis
FKBP7 protein levels 3e-21 rs7575643 1 GCST90469245 no MR -> candidate analysis
Circulating FKBP7 levels 8e-18 rs7598228 1 GCST90860694 no MR -> candidate analysis
Aspartate aminotransferase levels 6e-16 rs71423566 1 GCST90011899 no MR -> candidate analysis
Height (baseline) 3e-11 rs71423566 1 GCST90565843 no MR -> candidate analysis
Appendicular lean mass 3e-10 rs137968292 1 GCST90000025 no MR -> candidate analysis
Alanine aminotransferase levels 7e-10 rs71423566 3 GCST90019492 no MR -> candidate analysis
Corneodesmosin protein levels (SomaScan ID:9288-7) 9e-10 rs7598228 1 GCST90442727 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 57 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
atrial fibrillation 0.623 common-variant locus MR: beta=0.0988, p=0.171 (cis)
alcohol drinking 0.436 common-variant locus no MR -> candidate analysis
stroke disorder 0.427 common-variant locus no MR -> candidate analysis
atrioventricular block 0.356 common-variant locus no MR -> candidate analysis
heart failure 0.139 common-variant locus no MR -> candidate analysis
bundle branch block 0.107 common-variant locus no MR -> candidate analysis
heart disorder 0.069 common-variant locus no MR -> candidate analysis
obesity disorder 0.063 common-variant locus no MR -> candidate analysis
injury 0.063 common-variant locus no MR -> candidate analysis
smoking initiation 0.049 common-variant locus no MR -> candidate analysis
benign urinary system neoplasm 0.049 common-variant locus no MR -> candidate analysis
Tachycardia 0.047 common-variant locus no MR -> candidate analysis
phototoxic dermatitis 0.043 common-variant locus no MR -> candidate analysis
conduction system disorder 0.038 common-variant locus no MR -> candidate analysis
hypertrophic cardiomyopathy 0.035 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 14 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 not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=8e-09, LOEUF=1.39 — LoF-tolerant
GWAS Catalog 52 unique SNPs / 104 rows
ClinVar 78 records; 3 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance