CausalSentinel

Protein Dossier — GALNT16 (Polypeptide N-acetylgalactosaminyltransferase 16)

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
Invasive mucinous ovarian cancer -0.684 0.218 0.00173 Wald ratio 1 cis NA
Glioma -0.652 0.229 0.0044 Wald ratio 1 cis NA
Diagnoses - main ICD10: R55 Syncope and collapse 0.285 0.102 0.0053 Wald ratio 1 cis NA
Height 0.0454 0.017 0.00766 Wald ratio 1 cis NA
Diagnoses - main ICD10: N40 Hyperplasia of prostate 0.251 0.104 0.0159 Wald ratio 1 cis NA
Caudate volume -55.9 26 0.0314 Wald ratio 1 cis NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus 0.191 0.0933 0.041 Wald ratio 1 cis NA
Eczema -0.187 0.0934 0.045 Wald ratio 1 cis NA
Systolic blood pressure automated reading 0.0258 0.013 0.0465 Wald ratio 1 cis NA
Lumbar spine bone mineral density -0.0916 0.0463 0.0477 Wald ratio 1 cis NA
Urate -0.0619 0.0314 0.0492 Wald ratio 1 cis NA
Hirschsprung’s disease -1.87 0.951 0.0493 Wald ratio 1 cis NA
…and 83 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

70 association rows across 49 traits (61 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
Adolescent idiopathic scoliosis 2e-53 rs12435957 1 GCST006287 no MR -> candidate analysis
Polypeptide N-acetylgalactosaminyltransferase 16 levels 3e-44 rs12100668 2 GCST90249051 no MR -> candidate analysis
Educational attainment 1e-36 rs7150195 4 GCST90105038 no MR -> candidate analysis
Hematological traits (multi-trait analysis) 3e-31 rs61980291 1 GCST90838669 no MR -> candidate analysis
Neutrophil count 1e-25 rs34112413 1 GCST90002355 no MR -> candidate analysis
Height 2e-22 rs2061088 1 GCST90245848 MR: beta=0.0454, p=0.00766 (cis)
Serum levels of protein GALNT16 1e-20 rs12100668 1 GCST90090384 no MR -> candidate analysis
White blood cell count 8e-17 rs34112413 2 GCST90002378 no MR -> candidate analysis
High fluorescence immature platelet fraction 5e-16 rs77923891 1 GCST90281198 no MR -> candidate analysis
Immature platelet fraction 5e-16 rs77923891 1 GCST90281200 no MR -> candidate analysis
IGF 1 (UKB data field 30770) 8e-16 rs113574682 1 GCST90468078 no MR -> candidate analysis
Blood protein levels 4e-15 rs12100668 1 GCST006585 no MR -> candidate analysis
…and 37 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 75 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
physical activity 0.657 common-variant locus no MR -> candidate analysis
post-traumatic stress disorder 0.548 common-variant locus no MR -> candidate analysis
Intrahepatic cholestasis of pregnancy 0.488 common-variant locus no MR -> candidate analysis
adolescent idiopathic scoliosis 0.449 common-variant locus no MR -> candidate analysis
mathematical ability 0.438 common-variant locus no MR -> candidate analysis
pulmonary edema 0.396 common-variant locus no MR -> candidate analysis
duodenitis 0.396 common-variant locus no MR -> candidate analysis
placenta praevia 0.387 common-variant locus no MR -> candidate analysis
placental abruption 0.387 common-variant locus no MR -> candidate analysis
heart failure 0.36 common-variant locus no MR -> candidate analysis
intelligence 0.278 common-variant locus MR: beta=0.0593, p=0.373 (cis)
stroke disorder 0.139 common-variant locus no MR -> candidate analysis
alcohol drinking 0.139 common-variant locus no MR -> candidate analysis
musculoskeletal system disorder 0.093 common-variant locus no MR -> candidate analysis
neurotic disorder 0.065 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 14 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=8e-06, LOEUF=0.684 — LoF-tolerant
GWAS Catalog 58 unique SNPs / 112 rows
ClinVar 105 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance