CausalSentinel

Protein Dossier — FOXJ2 (Forkhead box protein J2)

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
Diagnoses - main ICD10: R07 Pain in throat and chest 0.113 0.0323 4.93e-04 Wald ratio 1 trans NA
Systolic blood pressure automated reading 0.0266 0.00827 0.0013 Wald ratio 1 trans NA
Non-cancer illness code self-reported: high cholesterol 0.0559 0.0207 0.0069 Wald ratio 1 trans NA
Vascular or heart problems diagnosed by doctor: Angina 0.107 0.0408 0.00862 Wald ratio 1 trans NA
Hippocampus volume -36.8 14 0.0088 Wald ratio 1 trans NA
Hearing difficulty or problems: Yes 0.0349 0.0135 0.0097 Wald ratio 1 trans NA
Diagnoses - main ICD10: B37 Candidiasis 0.586 0.229 0.0103 Wald ratio 1 trans NA
Diagnoses - main ICD10: I48 Atrial fibrillation and flutter 0.166 0.0652 0.0109 Wald ratio 1 trans NA
Non-cancer illness code self-reported: hyperthyroidism or thyrotoxicosis 0.194 0.078 0.0128 Wald ratio 1 trans NA
Diagnoses - main ICD10: H25 Senile cataract -0.321 0.13 0.0133 Wald ratio 1 trans NA
Primary sclerosing cholangitis -0.206 0.0854 0.0161 Wald ratio 1 trans NA
Eye problems or disorders: Glaucoma 0.141 0.0587 0.0164 Wald ratio 1 trans NA
…and 79 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

17 association rows across 15 traits (16 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
CLEC4C protein levels 3e-22 rs117813943 2 GCST90468772 no MR -> candidate analysis
MGLL/PLA2G4A protein level ratio 1e-17 rs7957980 1 GCST90315439 no MR -> candidate analysis
Mean reticulocyte volume 7e-17 rs3782679 1 GCST90002396 no MR -> candidate analysis
CD69/F2R protein level ratio 2e-16 rs12304020 1 GCST90313877 no MR -> candidate analysis
Neutrophil count 1e-15 rs10846411 2 GCST90002351 no MR -> candidate analysis
Monocyte percentage (UKB data field 30190) 5e-15 rs10846411 1 GCST90468091 no MR -> candidate analysis
CD69/NFATC1 protein level ratio 1e-14 rs12304020 1 GCST90313879 no MR -> candidate analysis
Mean reticulocyte volume (UKB data field 30260) 2e-13 rs3782679 1 GCST90468088 no MR -> candidate analysis
Mean spheric corpuscular volume 1e-12 rs55680021 1 GCST90002397 no MR -> candidate analysis
Height 1e-12 rs11609309 1 GCST90245848 MR: beta=-0.00809, p=0.413 (trans)
Sebaceous cyst (PheCode 706.2) 2e-12 rs12304020 1 GCST90480482 no MR -> candidate analysis
Neutrophil percentage of white cells 2e-11 rs4883480 1 GCST90002399 no MR -> candidate analysis
…and 3 more traits (see JSON)          

4. Phenome map — where this gene is a genetic locus, vs. where MR exists

Top diseases by Open Targets association (of 97 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
Epidermal Inclusion Cyst 0.225 common-variant locus no MR -> candidate analysis
Abnormality of the skeletal system 0.209 common-variant locus no MR -> candidate analysis
oral cavity neoplasm 0.179 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 not available — no ChEMBL target (undrugged)
gnomAD constraint pLI=1, LOEUF=0.39 — LoF-INTOLERANT
GWAS Catalog 49 unique SNPs / 98 rows
ClinVar 140 records; 5 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance