CausalSentinel

Protein Dossier — MAPK13 (Mitogen-activated protein kinase 13)

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
Red blood cell count 0.0382 0.00946 5.31e-05 Wald ratio 1 cis NA
Diagnoses - main ICD10: K57 Diverticular disease of intestine 0.183 0.061 0.00265 Wald ratio 1 cis NA
Diagnoses - main ICD10: D25 Leiomyoma of uterus 0.206 0.0749 0.00591 Wald ratio 1 cis NA
Birth length -0.112 0.0422 0.00795 Wald ratio 1 cis NA
Schizophrenia -0.116 0.0473 0.0143 Wald ratio 1 cis NA
Height -0.0307 0.013 0.0181 Wald ratio 1 cis NA
Non-cancer illness code self-reported: diverticular disease or diverticulitis 0.191 0.0816 0.0191 Wald ratio 1 cis NA
Subjective well being -0.0276 0.0118 0.0196 Wald ratio 1 cis NA
Mean cell haemoglobin -0.0981 0.0437 0.0249 Wald ratio 1 cis NA
Knee and hip osteoarthritis 0.192 0.0866 0.0265 Wald ratio 1 cis NA
Mean cell volume -0.247 0.112 0.0265 Wald ratio 1 cis NA
Non-cancer illness code self-reported: enlarged prostate 0.165 0.0757 0.0297 Wald ratio 1 cis NA
…and 97 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-5006_71_1 MK13 Suhre K 2019

3. GWAS Catalog results — traits with signal at this locus

6 association rows across 6 traits (5 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
SEMA3G protein levels 6e-57 rs147247331 1 GCST90470571 no MR -> candidate analysis
Height 1e-49 rs9689522 1 GCST90245848 MR: beta=-0.0307, p=0.0181 (cis)
Mitogen-activated protein kinase 13 levels 2e-37 rs12210904 1 GCST90248406 no MR -> candidate analysis
Mitogen-activated protein kinase 13 levels (MAPK13.5006.71.1 2e-21 rs12210904 1 GCST90241949 no MR -> candidate analysis
MAPK13 protein levels 5e-17 rs12210904 1 GCST90469856 no MR -> candidate analysis
Alcohol use frequency in adolescence 5e-6 rs115149227 1 GCST90454589 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 225 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
attention deficit-hyperactivity disorder 0.438 common-variant locus no MR -> candidate analysis
substance abuse 0.438 common-variant locus no MR -> candidate analysis
diabetes mellitus 0.049 common-variant locus no MR -> candidate analysis

Of the 3 rows above, 3 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 (Mitogen-activated protein kinase 13)
gnomAD constraint pLI=3.3e-10, LOEUF=0.952 — LoF-tolerant
GWAS Catalog 50 unique SNPs / 100 rows
ClinVar 79 records; 0 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance