CausalSentinel

Protein Dossier — NTM (Putative uncharacterized protein NTM-AS1)

MR feasibility tier: C — No plasma pQTL found (accession + symbol match). Standard plasma pQTL MR is not currently feasible; gene-level genetic evidence below is the honest preview.

1. Published MR estimates (retrieved, not computed)

None in the EpiGraphDB pQTL resource. Absence of an estimate is not evidence of no effect.

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

269 association rows across 168 traits (175 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
Neurotrimin levels 4e-244 rs2511504 3 GCST90248752 no MR -> candidate analysis
Serum levels of protein NTM 7e-97 rs2511781 3 GCST90090196 no MR -> candidate analysis
Opioid-binding protein/cell adhesion molecule levels 3e-71 rs2511504 2 GCST90248770 no MR -> candidate analysis
Blood protein levels 2e-58 rs2511504 2 GCST006585 no MR -> candidate analysis
Refractive error 2e-40 rs1790165 3 GCST90841196 no MR -> candidate analysis
Lung function (FEV1/FVC) 7e-28 rs4491239 2 GCST007080 no MR -> candidate analysis
Smoking initiation 2e-27 rs617267 14 GCST90243985 no MR -> candidate analysis
FEV1 FVC ratio Z score (UKB data field 20258) 7e-26 rs7118465 1 GCST90468165 no MR -> candidate analysis
FEV1/FVC ratio 1e-22 rs10466626 1 GCST90705072 no MR -> candidate analysis
Chronic obstructive pulmonary disease liability (machine lea 5e-21 rs6590623 1 GCST90244098 no MR -> candidate analysis
GLIPR1 protein levels 8e-20 rs554309481 2 GCST90469357 no MR -> candidate analysis
Pre-treatment viral load in HIV-1 infection 1e-16 rs78430868 1 GCST008758 no MR -> candidate analysis
…and 156 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 157 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
smoking initiation 0.681 common-variant locus no MR -> candidate analysis
Abnormality of the skeletal system 0.634 common-variant locus no MR -> candidate analysis
health study participation 0.625 common-variant locus no MR -> candidate analysis
ovarian dysfunction 0.605 common-variant locus no MR -> candidate analysis
chronic intestinal vascular insufficiency 0.587 common-variant locus no MR -> candidate analysis
uterine polyp 0.523 common-variant locus no MR -> candidate analysis
refractive error 0.521 common-variant locus no MR -> candidate analysis
duodenitis 0.51 common-variant locus no MR -> candidate analysis
mathematical ability 0.508 common-variant locus no MR -> candidate analysis
placental abruption 0.502 common-variant locus no MR -> candidate analysis
alcohol drinking 0.495 common-variant locus no MR -> candidate analysis
Hypermetropia 0.495 common-variant locus no MR -> candidate analysis
response to beta blocker 0.492 common-variant locus no MR -> candidate analysis
acute pancreatitis 0.492 common-variant locus no MR -> candidate analysis
stroke disorder 0.485 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 15 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=0.99, LOEUF=0.491 — LoF-INTOLERANT
GWAS Catalog 152 unique SNPs / 389 rows
ClinVar 144 records; 6 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance