CausalSentinel

Protein Dossier — PATE4 (Prostate and testis expressed protein 4)

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
HOMA-IR -0.0353 0.00892 7.70e-05 Wald ratio 1 cis NA
Forced vital capacity (FVC) -0.0171 0.00454 1.69e-04 Wald ratio 1 cis NA
HOMA-B -0.0228 0.00726 0.00167 Wald ratio 1 cis NA
Non-cancer illness code self-reported: ankylosing spondylitis 0.251 0.0821 0.00224 Wald ratio 1 cis NA
Age at menarche -0.0394 0.0129 0.0023 Wald ratio 1 cis NA
Fractured bone site(s): Other bones -0.0781 0.026 0.0027 Wald ratio 1 cis NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus -0.173 0.0583 0.00302 Wald ratio 1 cis NA
Fractured or broken bones in last 5 years -0.0486 0.0181 0.00733 Wald ratio 1 cis NA
Vascular or heart problems diagnosed by doctor: Angina 0.0762 0.0288 0.00804 Wald ratio 1 cis NA
Primary sclerosing cholangitis -0.179 0.0706 0.0113 Wald ratio 1 cis NA
Diagnoses - main ICD10: C50 Malignant neoplasm of breast 0.0954 0.0394 0.0154 Wald ratio 1 cis NA
2hr glucose 0.0996 0.0415 0.0164 Wald ratio 1 cis NA
…and 80 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

6 association rows across 6 traits (4 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
Prostate and testis expressed protein 4 levels 6e-77 rs875500 1 GCST90248859 no MR -> candidate analysis
Prostate and testis expressed protein 4 levels (PATE4.8065.2 1e-75 rs875500 1 GCST90242405 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 3e-13 rs10893443 1 GCST90838669 no MR -> candidate analysis
Physical function (baseline) 4e-9 rs11220256 1 GCST90565837 no MR -> candidate analysis
Astrocytoma (high-grade) 6e-6 rs118098308 1 GCST90296478 no MR -> candidate analysis
Itch intensity from mosquito bite adjusted by bite size 9e-6 rs11220237 1 GCST004862 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 26 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
stroke disorder 0.342 common-variant locus no MR -> candidate analysis
alcohol drinking 0.342 common-variant locus no MR -> candidate analysis
ovarian neoplasm 0.335 common-variant locus no MR -> candidate analysis
tongue cancer 0.062 common-variant locus no MR -> candidate analysis

Of the 4 rows above, 4 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=1.4e-06, LOEUF=2.43 — LoF-tolerant
GWAS Catalog 15 unique SNPs / 30 rows
ClinVar 83 records; 13 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance