CausalSentinel

Protein Dossier — ASMTL (Probable bifunctional dTTP/UTP pyrophosphatase/methyltransferase 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
Amyotrophic lateral sclerosis -0.354 0.112 0.00156 Wald ratio 1 trans NA
Neuroticism -0.0466 0.0233 0.0455 Wald ratio 1 trans NA
Invasive mucinous ovarian cancer -0.431 0.238 0.0696 Wald ratio 1 trans NA
Depressive symptoms -0.0326 0.0233 0.162 Wald ratio 1 trans NA
Clear cell ovarian cancer 0.258 0.236 0.275 Wald ratio 1 trans NA
Low grade serous ovarian cancer 0.283 0.282 0.316 Wald ratio 1 trans NA
Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0373 0.0401 0.352 Wald ratio 1 trans NA
Eczema 0.214 0.234 0.36 Wald ratio 1 trans NA
ER-positive Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0424 0.0471 0.368 Wald ratio 1 trans NA
Birth weight -0.0215 0.0243 0.376 Wald ratio 1 trans NA
Bulimia nervosa 0.625 0.826 0.449 Wald ratio 1 trans NA
Endometrioid ovarian cancer -0.118 0.171 0.492 Wald ratio 1 trans NA
…and 1 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

3 association rows across 1 traits (3 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
N-acetylserotonin O-methyltransferase-like protein levels 1e-136 rs4503285 3 GCST90248599 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 39 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
Abnormality of prenatal development or birth 0.051 common-variant locus no MR -> candidate analysis
Primary amenorrhea 0.012 established (curated) no MR -> candidate analysis

Of the 2 rows above, 2 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=7.9e-19, LOEUF=1.18 — LoF-tolerant
GWAS Catalog 11 unique SNPs / 44 rows
ClinVar 312 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance