CausalSentinel

Protein Dossier — STK17B (Serine/threonine-protein kinase 17B)

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
Myocardial infarction -0.155 0.0444 4.76e-04 Wald ratio 1 trans NA
Coronary heart disease -0.134 0.0403 8.64e-04 Wald ratio 1 trans NA
Amyotrophic lateral sclerosis -0.237 0.0729 0.00113 Wald ratio 1 trans NA
Eczema 0.214 0.0713 0.00266 Wald ratio 1 trans NA
Years of schooling -0.0476 0.0159 0.0027 Wald ratio 1 trans NA
Diagnoses - main ICD10: N92 Excessive frequent and irregular menstruation 0.168 0.0565 0.00295 Wald ratio 1 trans NA
Chronic kidney disease 0.174 0.0634 0.00596 Wald ratio 1 trans NA
Forced vital capacity (FVC) -0.0214 0.00785 0.00649 Wald ratio 1 trans NA
LDL cholesterol -0.0598 0.0222 0.00701 Wald ratio 1 trans NA
Sodium in urine 0.0238 0.00941 0.0115 Wald ratio 1 trans NA
Heel bone mineral density (BMD) T-score automated 0.0303 0.0124 0.0143 Wald ratio 1 trans NA
Non-cancer illness code self-reported: deep venous thrombosis (dvt) -0.203 0.0837 0.0155 Wald ratio 1 trans NA
…and 99 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-5249_31_3 DRAK2 Suhre K 2019

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

36 association rows across 24 traits (31 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
Vertex-wise sulcal depth 9e-33 rs1054537 1 GCST90095129 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 2e-32 rs4514889 2 GCST90838669 no MR -> candidate analysis
Mean reticulocyte volume (UKB data field 30260) 2e-16 rs539299744 1 GCST90468088 no MR -> candidate analysis
Mean sphered cell volume (UKB data field 30270) 5e-16 rs75229287 1 GCST90468089 no MR -> candidate analysis
Vertex-wise cortical thickness 1e-15 rs1519602 1 GCST90095131 no MR -> candidate analysis
Cortical thickness 4e-15 rs1519602 1 GCST90091061 no MR -> candidate analysis
Mean corpuscular volume 6e-15 rs76005009 4 GCST90002338 no MR -> candidate analysis
Mean spheric corpuscular volume 3e-14 rs539299744 1 GCST90002397 no MR -> candidate analysis
Mean corpuscular hemoglobin 3e-13 rs17302154 3 GCST007068 no MR -> candidate analysis
Eosinophill percentage (UKB data field 30210) 5e-13 rs539299744 1 GCST90468069 no MR -> candidate analysis
Eosinophil percentage of white cells 3e-12 rs539299744 1 GCST90002382 no MR -> candidate analysis
Brain morphology (MOSTest) 3e-12 rs1519602 1 GCST90239729 no MR -> candidate analysis
…and 12 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 123 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
frozen shoulder 0.5 common-variant locus no MR -> candidate analysis
placental retention 0.484 common-variant locus no MR -> candidate analysis
type 2 diabetes mellitus 0.3 common-variant locus no MR -> candidate analysis
smoking initiation 0.297 common-variant locus no MR -> candidate analysis
depressive disorder 0.215 common-variant locus no MR -> candidate analysis
anxiety disorder 0.212 common-variant locus no MR -> candidate analysis
hypothyroidism 0.203 common-variant locus MR: beta=-0.0405, p=0.361 (trans)
mood disorder 0.176 common-variant locus no MR -> candidate analysis
ulcerative colitis 0.176 common-variant locus no MR -> candidate analysis
generalized dystonia 0.173 common-variant locus no MR -> candidate analysis
hypertrophic cardiomyopathy 0.103 common-variant locus no MR -> candidate analysis
mental disorder 0.055 common-variant locus no MR -> candidate analysis
upper extremity fracture 0.041 common-variant locus no MR -> candidate analysis
ovarian dysfunction 0.041 common-variant locus no MR -> candidate analysis

Of the 14 rows above, 13 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 (Serine/threonine-protein kinase 17B)
gnomAD constraint pLI=0.0042, LOEUF=0.72 — LoF-tolerant
GWAS Catalog 36 unique SNPs / 71 rows
ClinVar 75 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance