CausalSentinel

Protein Dossier — BCAN (Brevican core protein)

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: S76 Injury of muscle and tendon at hip and thigh level 1.01 0.27 1.86e-04 Wald ratio 1 cis NA
Potassium in urine 0.0461 0.0145 0.00149 Wald ratio 1 cis NA
Creatinine (enzymatic) in urine 0.0431 0.0137 0.00163 Wald ratio 1 cis NA
Pancreatic cancer 0.862 0.275 0.00171 Wald ratio 1 cis NA
Non-cancer illness code self-reported: hypertrophic cardiomyopathy (hcm or hocm) 1.04 0.433 0.016 Wald ratio 1 cis NA
Sodium in urine 0.0336 0.0141 0.0169 Wald ratio 1 cis NA
Non-cancer illness code self-reported: asthma 0.0796 0.037 0.0316 Wald ratio 1 cis NA
Hippocampus volume -60.3 28.1 0.0318 Wald ratio 1 cis NA
Thyroid cancer 0.975 0.456 0.0323 Wald ratio 1 cis NA
Microalbuminuria -0.254 0.119 0.0336 Wald ratio 1 cis NA
Neuroblastoma -0.515 0.249 0.0387 Wald ratio 1 cis NA
Type 2 diabetes -0.147 0.074 0.0468 Wald ratio 1 cis NA
…and 99 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-3461_58_1 PGCB Suhre K 2019

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

38 association rows across 28 traits (36 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
Circulating BCAN levels 4e-298 rs2365715 3 GCST90859689 no MR -> candidate analysis
BCAN protein levels 5e-292 rs2365715 1 GCST90468426 no MR -> candidate analysis
BCAN/NPTXR protein level ratio 3e-155 rs3795736 1 GCST90313482 no MR -> candidate analysis
BCAN/DPP6 protein level ratio 5e-148 rs3795736 1 GCST90313478 no MR -> candidate analysis
BCAN/CD200 protein level ratio 9e-144 rs3795736 1 GCST90313477 no MR -> candidate analysis
BCAN/MOG protein level ratio 2e-132 rs3795736 1 GCST90313480 no MR -> candidate analysis
BCAN/KLK6 protein level ratio 1e-129 rs3795736 1 GCST90313479 no MR -> candidate analysis
HDGF protein levels 7e-121 rs150063652 3 GCST90469442 no MR -> candidate analysis
Brevican core protein levels 4e-73 rs2365715 5 GCST90425778 no MR -> candidate analysis
Serum levels of protein BCAN 1e-31 rs2365715 2 GCST90088400 no MR -> candidate analysis
Brevican core protein level in Chronic kidney disease with h 1e-27 rs113184515 1 GCST90237392 no MR -> candidate analysis
Brevican core protein levels (BCAN.3461.58.1) 2e-26 rs41267397 2 GCST90240470 no MR -> candidate analysis
…and 16 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 160 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
chronic hepatitis 0.271 common-variant locus no MR -> candidate analysis
myopia 0.182 established (curated) no MR -> candidate analysis
pathological myopia 0.182 established (curated) no MR -> candidate analysis
Decreased total leukocyte count 0.083 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=3.7e-08, LOEUF=0.697 — LoF-tolerant
GWAS Catalog 72 unique SNPs / 143 rows
ClinVar 173 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance