CausalSentinel

Protein Dossier — SUMF1 (Formylglycine-generating enzyme)

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
Potassium in urine	0.0224	0.0075	0.00282	Inverse variance weighted	2	trans	NA
Potassium in urine	0.0224	0.0075	0.00282	Inverse variance weighted	2	trans	NA
Creatinine (enzymatic) in urine	0.0206	0.00708	0.00354	Inverse variance weighted	2	trans	NA
Creatinine (enzymatic) in urine	0.0206	0.00708	0.00354	Inverse variance weighted	2	trans	NA
Cough on most days	0.0901	0.0347	0.00941	Inverse variance weighted	2	trans	NA
Cough on most days	0.0901	0.0347	0.00941	Inverse variance weighted	2	trans	NA
Depressive symptoms	-0.0391	0.0156	0.0124	Wald ratio	1	trans	NA
Non-cancer illness code self-reported: diverticular disease or diverticulitis	0.144	0.0608	0.018	Inverse variance weighted	2	trans	NA
Non-cancer illness code self-reported: diverticular disease or diverticulitis	0.144	0.0608	0.018	Inverse variance weighted	2	trans	NA
HDL cholesterol	-0.0489	0.0219	0.0256	Wald ratio	1	trans	NA
Non-cancer illness code self-reported: depression	0.0626	0.0286	0.0288	Inverse variance weighted	2	trans	NA
Non-cancer illness code self-reported: depression	0.0626	0.0286	0.0288	Inverse variance weighted	2	trans	NA
…and 148 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

210 association rows across 113 traits (133 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 LRRN1 levels	1e-3269	rs9839475	7	GCST90860552	no MR -> candidate analysis
FAP/LRRN1 protein level ratio	5e-2494	rs3912619	1	GCST90314783	no MR -> candidate analysis
SETMAR protein levels	2e-279	rs35083095	10	GCST90470605	no MR -> candidate analysis
LRRN1 protein levels	5e-164	rs115770890	47	GCST90469806	no MR -> candidate analysis
Restless legs syndrome	8e-69	rs7620647	5	GCST90432061	no MR -> candidate analysis
SUMF1 protein levels	2e-52	rs35083095	1	GCST90470783	no MR -> candidate analysis
IL5RA protein levels	2e-31	rs4685615	3	GCST90469600	no MR -> candidate analysis
Refractive error	9e-25	rs1121798	5	GCST90841196	no MR -> candidate analysis
Leucine-rich repeat neuronal protein 1 levels (LRRN1.11293.1	2e-22	rs6801789	1	GCST90241762	no MR -> candidate analysis
Core binding factor acute myeloid leukemia	4e-15	rs6768756; rs11717189	2	GCST008413	no MR -> candidate analysis
Smoking initiation	5e-15	rs1312821	2	GCST90243985	no MR -> candidate analysis
Femur bone mineral density x serum urate levels interaction	3e-13	rs6805181	3	GCST012490	no MR -> candidate analysis
…and 101 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 1451 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
Multiple sulfatase deficiency	0.932	—	established (curated)	no MR -> candidate analysis
mucosulfatidosis	0.608	—	established (curated)	no MR -> candidate analysis
spinocerebellar ataxia type 15/16	0.669	—	established (curated)	no MR -> candidate analysis
hereditary disease	0.56	—	established (curated)	no MR -> candidate analysis
placenta praevia	0.531	—	common-variant locus	no MR -> candidate analysis
alcohol drinking	0.528	—	common-variant locus	no MR -> candidate analysis
hypertrophic cardiomyopathy	0.474	—	common-variant locus	no MR -> candidate analysis
lower respiratory tract disorder	0.466	—	common-variant locus	no MR -> candidate analysis
tooth disorder	0.397	—	common-variant locus	no MR -> candidate analysis
uterine corpus leiomyoma	0.199	—	common-variant locus	no MR -> candidate analysis
breast carcinoma	0.173	—	common-variant locus	no MR -> candidate analysis
Uterine leiomyoma	0.162	—	common-variant locus	no MR -> candidate analysis
atrial fibrillation	0.146	—	common-variant locus	MR: beta=-0.0872, p=0.314 (trans)
atrial flutter	0.146	—	common-variant locus	MR: beta=-0.0872, p=0.314 (trans)
benign neoplasm of adrenal gland	0.135	—	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=5.7e-17, LOEUF=1.28 — LoF-tolerant
GWAS Catalog	184 unique SNPs / 298 rows
ClinVar	1062 records; 15 pathogenic in sample of 30
PharmGKB/ClinPGx	no annotations

Caveats declared by the tools

• phenome — Top 30 of 1451 associated diseases by overall score. genetic_association aggregates GWAS common-variant AND rare-variant evidence. These are ASSOCIATIONS (loci), not causal claims.
• chembl — No ChEMBL target for ‘SUMF1’.
• clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 1062 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 20 of 113 traits by best p-value, aggregated from 210 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/Q8NBK3 — 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/ENSG00000144455/associations — Open Targets data release 26.06
• gnomad: https://gnomad.broadinstitute.org/gene/SUMF1 — gnomAD constraint via GraphQL API (reference genome GRCh38)
• gwas: https://www.ebi.ac.uk/gwas/genes/SUMF1 — GWAS Catalog REST (live; release not exposed by this endpoint)
• clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=SUMF1%5Bgene%5D — ClinVar build Build260809-1055.1
• gwas_traits: https://www.ebi.ac.uk/gwas/genes/SUMF1 — GWAS Catalog search API (live; release not exposed)

Provenance

• Generated: 2026-08-14T05:16:41 · 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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