CausalSentinel

Protein Dossier — CDCP1 (CUB domain-containing protein 1)

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
Diagnoses - main ICD10: D12 Benign neoplasm of colon rectum anus and anal canal 0.462 0.0904 3.16e-07 Wald ratio 1 cis NA
Lung adenocarcinoma -0.623 0.205 0.00238 Wald ratio 1 cis NA
Knee osteoarthritis -0.479 0.182 0.00863 Wald ratio 1 cis NA
Lung cancer -0.295 0.127 0.0203 Wald ratio 1 cis NA
Non-cancer illness code self-reported: vitiligo 1.04 0.449 0.021 Wald ratio 1 cis NA
Paget’s disease -0.89 0.403 0.0272 Wald ratio 1 cis NA
Knee and hip osteoarthritis -0.324 0.148 0.0286 Wald ratio 1 cis NA
Heel bone mineral density (BMD) T-score automated -0.0395 0.0217 0.0689 Wald ratio 1 cis NA
Pancreatic cancer -0.596 0.328 0.0691 Wald ratio 1 cis NA
Vascular or heart problems diagnosed by doctor: Angina -0.216 0.119 0.0696 Wald ratio 1 cis NA
Non-cancer illness code self-reported: osteoporosis -0.368 0.205 0.0732 Wald ratio 1 cis NA
Diagnoses - main ICD10: C61 Malignant neoplasm of prostate 0.277 0.162 0.0869 Wald ratio 1 cis NA
…and 78 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

44 association rows across 26 traits (36 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
Circulating CDCP1 levels 6e-461 rs62244475 9 GCST90859836 no MR -> candidate analysis
CDCP1/MSR1 protein level ratio 4e-358 rs62244470 1 GCST90313938 no MR -> candidate analysis
CDCP1/IL18BP protein level ratio 7e-328 rs62244470 1 GCST90313937 no MR -> candidate analysis
CDCP1 protein levels 1e-136 rs79885994 6 GCST90468667 no MR -> candidate analysis
CUB domain-containing protein 1 levels 5e-96 rs2276862 3 GCST90274775 no MR -> candidate analysis
Tetranectin levels 5e-66 rs10514712 1 GCST90249808 no MR -> candidate analysis
Exosome complex component RRP43 levels 1e-47 rs149457742 1 GCST90249380 no MR -> candidate analysis
CUB domain-containing protein 1 (analyte X16818.200) levels 4e-42 rs72865129 1 GCST90422872 no MR -> candidate analysis
Macular thickness 3e-30 rs73089379 1 GCST006976 no MR -> candidate analysis
Macrophage inflammatory protein 1b levels 1e-28 rs62242542 1 GCST004433 no MR -> candidate analysis
CUB domain-containing protein 1 (analyte X6565.68) levels 2e-27 rs58868809 1 GCST90426769 no MR -> candidate analysis
Cerebrospinal fluid protein CDCP1 levels 2e-27 rs58868809 1 GCST90943172 no MR -> candidate analysis
…and 14 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 266 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
bone Paget disease 0.59 common-variant locus no MR -> candidate analysis
nutritional deficiency disease 0.466 common-variant locus no MR -> candidate analysis
arthropathy 0.461 common-variant locus no MR -> candidate analysis
exostosis 0.356 common-variant locus no MR -> candidate analysis
otosalpingitis 0.282 common-variant locus no MR -> candidate analysis
Blocked Eustachian tube 0.282 common-variant locus no MR -> candidate analysis

Of the 6 rows above, 6 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=0.0021, LOEUF=0.657 — LoF-tolerant
GWAS Catalog 61 unique SNPs / 122 rows
ClinVar 141 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance