CausalSentinel

Protein Dossier — LIPN (Lipase member N)

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 0.00925 0.00315 0.00331 Wald ratio 1 cis NA
Alzheimer’s disease 0.0494 0.017 0.00371 Wald ratio 1 cis NA
Neo-neuroticism 0.273 0.0995 0.00611 Wald ratio 1 cis NA
Small vessel disease 0.0934 0.0372 0.0121 Wald ratio 1 cis NA
Neo-extraversion -0.197 0.0796 0.0134 Wald ratio 1 cis NA
Diagnoses - main ICD10: K20 Oesophagitis -0.0649 0.0278 0.0196 Wald ratio 1 cis NA
Non-cancer illness code self-reported: gout -0.0526 0.0228 0.021 Wald ratio 1 cis NA
Diagnoses - main ICD10: M54 Dorsalgia -0.0478 0.021 0.0229 Wald ratio 1 cis NA
Diagnoses - main ICD10: R55 Syncope and collapse -0.0662 0.0292 0.0234 Wald ratio 1 cis NA
Sleep duration 0.00451 0.00201 0.0249 Wald ratio 1 cis NA
Diagnoses - main ICD10: R10 Abdominal and pelvic pain -0.0286 0.0128 0.0257 Wald ratio 1 cis NA
Non-cancer illness code self-reported: osteoarthritis -0.0195 0.00879 0.0269 Wald ratio 1 cis NA
…and 87 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

12 association rows across 8 traits (11 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
Lipase member N levels 1e-764 rs10509554 3 GCST90248295 no MR -> candidate analysis
Lipase member N levels (LIPN.8097.77.3) 7e-499 rs10509554 2 GCST90241809 no MR -> candidate analysis
Serum levels of protein LIPN 5e-178 rs10509554 2 GCST90090049 no MR -> candidate analysis
Blood protein levels 7e-104 rs10509554 1 GCST006585 no MR -> candidate analysis
Lipase member N level in Chronic kidney disease with hyperte 1e-77 rs10509554 1 GCST90238820 no MR -> candidate analysis
Neuroendocrine secretory protein 55 protein levels (SomaScan 1e-23 rs10509554 1 GCST90443255 no MR -> candidate analysis
FASLG protein levels 4e-16 rs10509554 1 GCST90469191 no MR -> candidate analysis
Lobe attachment (rater-scored or self-reported) 2e-6 rs444386 1 GCST005192 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 60 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
lamellar ichthyosis 0.606 established (curated) no MR -> candidate analysis
arthropathy 0.459 common-variant locus no MR -> candidate analysis
androgenetic alopecia 0.045 common-variant locus no MR -> candidate analysis
malunion fracture 0.04 common-variant locus no MR -> candidate analysis
adolescent idiopathic scoliosis 0.035 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 0 known modulators (Carboxylic ester hydrolase LipN)
gnomAD constraint pLI=1.3e-08, LOEUF=0.984 — LoF-tolerant
GWAS Catalog 41 unique SNPs / 81 rows
ClinVar 166 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance