CausalSentinel

Protein Dossier — CPB1 (Carboxypeptidase B)

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
Ulcerative colitis	-0.213	0.0585	2.66e-04	Wald ratio	1	trans	NA
Diagnoses - main ICD10: K43 Ventral hernia	0.279	0.0894	0.00183	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: K43 Ventral hernia	0.279	0.0894	0.00183	Inverse variance weighted	2	trans	NA
Multiple sclerosis	-0.228	0.0739	0.00205	Wald ratio	1	trans	NA
Cigarettes smoked per day	-1.18	0.387	0.00232	Wald ratio	1	cis	NA
Inflammatory bowel disease	-0.143	0.0473	0.00248	Wald ratio	1	trans	NA
Diagnoses - main ICD10: G47 Sleep disorders	0.224	0.0819	0.00616	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: G47 Sleep disorders	0.224	0.0819	0.00616	Inverse variance weighted	2	trans	NA
Birth length	0.119	0.0449	0.008	Wald ratio	1	cis	NA
Systemic lupus erythematosus	0.555	0.218	0.0108	Wald ratio	1	cis	NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level	0.553	0.227	0.0148	Inverse variance weighted	2	cis	NA
Diagnoses - main ICD10: S76 Injury of muscle and tendon at hip and thigh level	0.553	0.227	0.0148	Inverse variance weighted	2	trans	NA
…and 153 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

20 association rows across 18 traits (16 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
CPA1/CPB1 protein level ratio	2e-268	rs1059502	1	GCST90314202	no MR -> candidate analysis
CPB1/PRSS2 protein level ratio	6e-138	rs1059502	1	GCST90314211	no MR -> candidate analysis
Circulating CPB1 levels	2e-104	rs2331406	2	GCST90859977	no MR -> candidate analysis
CELA3A/CPB1 protein level ratio	3e-99	rs1059502	1	GCST90314010	no MR -> candidate analysis
CPB1/CTRB1 protein level ratio	9e-95	rs1059502	1	GCST90314208	no MR -> candidate analysis
CPB1 protein levels	8e-76	rs2331406	1	GCST90468839	no MR -> candidate analysis
Carboxypeptidase B levels	5e-71	rs2291671	1	GCST90246875	no MR -> candidate analysis
Carboxypeptidase B (analyte X6356.3) levels	4e-64	rs6803439	1	GCST90426645	no MR -> candidate analysis
Cerebrospinal fluid protein CPB1 levels	2e-63	rs6803439	1	GCST90944727	no MR -> candidate analysis
Carboxypeptidase B (analyte X15375.49) levels	2e-54	rs6803439	1	GCST90422627	no MR -> candidate analysis
Serum levels of protein CPB1	3e-35	rs13318851	1	GCST90089361	no MR -> candidate analysis
Blood protein levels	1e-19	rs13318853	1	GCST006585	no MR -> candidate analysis
…and 6 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 290 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 the integument	0.46	—	common-variant locus	no MR -> candidate analysis
kidney transplant	0.388	—	common-variant locus	no MR -> candidate analysis
smoking initiation	0.092	—	common-variant locus	no MR -> candidate analysis
ovarian neoplasm	0.091	—	common-variant locus	no MR -> candidate analysis
ovarian dysfunction	0.076	—	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 (Carboxypeptidase B)
gnomAD constraint	pLI=4.6e-19, LOEUF=1.3 — LoF-tolerant
GWAS Catalog	29 unique SNPs / 55 rows
ClinVar	97 records; 2 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 290 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.
• chembl — ChEMBL target matched by text search on ‘CPB1’ and resolved to ‘Carboxypeptidase B’ — confirm this is the intended target.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 97 ClinVar records for this gene; it is a sample, not a rate.
• pharmgkb — No PharmGKB/ClinPGx clinical annotations (gene may not be a pharmacogene).
• gwas_traits — Top 18 of 18 traits by best p-value, aggregated from 20 association rows. These are GWAS ASSOCIATIONS (loci), not causal claims; mapped genes at a locus are not necessarily the effector gene.

Sources

• uniprot: https://www.uniprot.org/uniprotkb/P15086 — UniProt release 2026_02 (10-June-2026)
• mr_outcomes: https://epigraphdb.org/pqtl/ — EpiGraphDB pQTL MR (Zheng et al., Nat Genet 2020) — pre-computed two-sample MR; retrieved, not computed by this agent; EpiGraphDB build 1.0, pQTL dataset v3.0
• phenome: https://platform.opentargets.org/target/ENSG00000153002/associations — Open Targets data release 26.06
• chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL2552/ — ChEMBL_37 (released 2026-05-01)
• gnomad: https://gnomad.broadinstitute.org/gene/CPB1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/CPB1 — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=CPB1%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/CPB1 — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T01:59:42 · Tier: A
• Fully mechanical: every cell above is rendered from tool return values. No language model wrote any part of this dossier.
• MR estimates, where present, are retrieved from published work (EpiGraphDB pQTL, Zheng et al. Nat Genet 2020); nothing is computed here.
• Tool errors this run: none

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