CausalSentinel

Protein Dossier — DPT (Dermatopontin)

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
Body mass index (BMI) -0.0225 0.00587 1.24e-04 Wald ratio 1 cis NA
Non-cancer illness code self-reported: deep venous thrombosis (dvt) -0.166 0.0493 7.42e-04 Wald ratio 1 cis NA
Diagnoses - main ICD10: R10 Abdominal and pelvic pain -0.0929 0.0312 0.00287 Wald ratio 1 cis NA
Eye problems or disorders: Diabetes related eye disease 0.176 0.0633 0.00542 Wald ratio 1 cis NA
Alcohol intake frequency -0.0233 0.00868 0.00728 Wald ratio 1 cis NA
Weight -0.0137 0.00519 0.00803 Wald ratio 1 cis NA
ER-negative Breast cancer (Combined Oncoarray; iCOGS; GWAS meta analysis) -0.0741 0.0289 0.0103 Wald ratio 1 cis NA
Diagnoses - main ICD10: I48 Atrial fibrillation and flutter 0.124 0.0492 0.0118 Wald ratio 1 cis NA
Depressive symptoms -0.0241 0.00963 0.0124 Wald ratio 1 cis NA
Forced vital capacity (FVC) 0.0119 0.00482 0.0133 Wald ratio 1 cis NA
Non-cancer illness code self-reported: migraine -0.0893 0.0372 0.0162 Wald ratio 1 cis NA
Diagnoses - main ICD10: M23 Internal derangement of knee -0.101 0.0438 0.0207 Wald ratio 1 cis NA
…and 74 more outcomes (see JSON)              

2. pQTL instrument availability (Tier-B probe)

Dataset Trait Author Year
prot-c-4979_34_2 DERM Suhre K 2019

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

84 association rows across 39 traits (75 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
Dermatopontin levels 8e-211 rs1018454 6 GCST90247265 no MR -> candidate analysis
DPT protein levels 2e-207 rs78032017 13 GCST90469036 no MR -> candidate analysis
XCL1 protein levels 4e-128 rs116047858 8 GCST90471081 no MR -> candidate analysis
Electrocardiogram morphology (amplitude at temporal datapoin 5e-68 rs531706 16 GCST010796 no MR -> candidate analysis
Dermatopontin levels (DPT.4979.34.2) 8e-67 rs1018454 1 GCST90240890 no MR -> candidate analysis
Cerebrospinal fluid protein DPT levels 2e-63 rs607484 1 GCST90944747 no MR -> candidate analysis
Serum levels of protein DPT 3e-63 rs1018454 1 GCST90088840 no MR -> candidate analysis
Blood protein levels 7e-34 rs1018454 1 GCST006585 no MR -> candidate analysis
ECG latent space 3e-25 rs635954 1 GCST90250897 no MR -> candidate analysis
neutrophil (fraction, minimum, inv-norm transformed) 3e-21 rs1337742 1 GCST90479715 no MR -> candidate analysis
ECG cardiac MRI latent space 2e-19 rs545833 1 GCST90250896 no MR -> candidate analysis
Thyroid stimulating hormone levels 1e-18 rs580360 1 GCST90572789 no MR -> candidate analysis
…and 27 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 749 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
Sensorineural hearing impairment 0.663 common-variant locus no MR -> candidate analysis
hearing loss disorder 0.647 common-variant locus no MR -> candidate analysis
hypothyroidism 0.645 common-variant locus MR: beta=-0.0588, p=0.0339 (cis)
atrial fibrillation 0.577 common-variant locus MR: beta=0.124, p=0.0118 (cis)
deep vein thrombosis 0.571 common-variant locus no MR -> candidate analysis
Progressive sensorineural hearing impairment 0.559 established (curated) no MR -> candidate analysis
COVID-19 0.553 common-variant locus no MR -> candidate analysis
severe acute respiratory syndrome 0.553 common-variant locus no MR -> candidate analysis
restless legs syndrome 0.529 common-variant locus no MR -> candidate analysis
phobic disorder 0.484 common-variant locus no MR -> candidate analysis
septic shock 0.484 common-variant locus no MR -> candidate analysis
blood coagulation disease 0.476 common-variant locus no MR -> candidate analysis
lower respiratory tract disorder 0.445 common-variant locus no MR -> candidate analysis
placenta praevia 0.429 common-variant locus no MR -> candidate analysis
venous thromboembolism 0.412 common-variant locus no MR -> candidate analysis

Of the 15 rows above, 13 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=1.9e-05, LOEUF=0.968 — LoF-tolerant
GWAS Catalog 80 unique SNPs / 154 rows
ClinVar 69 records; 4 pathogenic in sample of 30
PharmGKB/ClinPGx no annotations

Caveats declared by the tools

Sources

Provenance