CausalSentinel

Protein Dossier — B3GNT8 (Queuosine-tRNA galactosyltransferase)

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 -0.0376 0.00403 1.03e-20 Wald ratio 1 cis NA
Weight -0.0128 0.00292 1.15e-05 Wald ratio 1 cis NA
Forced vital capacity (FVC) -0.00985 0.00271 2.83e-04 Wald ratio 1 cis NA
Coronary heart disease -0.0396 0.0126 0.00171 Wald ratio 1 cis NA
Diastolic blood pressure automated reading 0.0104 0.00339 0.00211 Wald ratio 1 cis NA
Potassium in urine -0.0103 0.00336 0.00227 Wald ratio 1 cis NA
Creatinine (enzymatic) in urine -0.00959 0.00317 0.00248 Wald ratio 1 cis NA
Thyroid cancer 0.34 0.115 0.00299 Wald ratio 1 cis NA
Sleep duration -0.00749 0.00258 0.00377 Wald ratio 1 cis NA
Forced expiratory volume in 1-second (FEV1) -0.00807 0.00286 0.00479 Wald ratio 1 cis NA
Thalamus volume -22.8 8.47 0.00723 Wald ratio 1 cis NA
Ferritin -0.0333 0.0128 0.00904 Wald ratio 1 cis NA
…and 112 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

33 association rows across 22 traits (32 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
UDP-GlcNAc:betaGal beta-1,3-N-acetylglucosaminyltransferase 9e-726 rs284662 2 GCST90246634 no MR -> candidate analysis
N-acetyllactosaminide beta-1,3-N-acetylglucosaminyltransfera 1e-328 rs284662 1 GCST90248603 no MR -> candidate analysis
Blood protein levels 1e-238 rs284663 1 GCST006585 no MR -> candidate analysis
Serum levels of protein B3GNT2 6e-73 rs284662 1 GCST90089962 no MR -> candidate analysis
B3GNT8 protein levels 1e-72 rs284662 1 GCST90453319 no MR -> candidate analysis
Height 2e-72 rs284661 8 GCST90662911 MR: beta=-0.0376, p=1.03e-20 (cis)
Body size or adipose distribution (multivariate analysis) 1e-50 rs284660 1 GCST90624105 no MR -> candidate analysis
CD27/CD79B protein level ratio 1e-34 rs284663 1 GCST90313770 no MR -> candidate analysis
Circulating ADAM23 levels 5e-31 rs2569754 1 GCST90859683 no MR -> candidate analysis
ADAM23 protein levels 5e-30 rs284662 1 GCST90468219 no MR -> candidate analysis
Phosphopantothenoylcysteine decarboxylase protein levels (So 7e-26 rs284662 1 GCST90439264 no MR -> candidate analysis
Circulating ISLR2 levels 4e-24 rs2569754 1 GCST90860750 no MR -> candidate analysis
…and 10 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 64 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
androgenetic alopecia 0.26 common-variant locus no MR -> candidate analysis
atrial fibrillation 0.179 common-variant locus no MR -> candidate analysis
heart failure 0.17 common-variant locus no MR -> candidate analysis
hair color 0.141 common-variant locus no MR -> candidate analysis
angina pectoris 0.092 common-variant locus no MR -> candidate analysis

Of the 5 rows above, 5 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=NA, LOEUF=NA — Constraint metrics missing; LoF tolerance cannot be judged.
GWAS Catalog 104 unique SNPs / 238 rows
ClinVar 110 records; 1 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance