Protein Dossier — GOT1 (Aspartate aminotransferase, cytoplasmic)
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 |
| Mean cell haemoglobin concentration |
-0.0321 |
0.00886 |
2.87e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| Mean cell haemoglobin concentration |
-0.0321 |
0.00886 |
2.87e-04 |
Inverse variance weighted |
2 |
trans |
NA |
| Knee osteoarthritis |
0.225 |
0.0687 |
0.00108 |
Inverse variance weighted |
2 |
trans |
NA |
| Knee osteoarthritis |
0.225 |
0.0687 |
0.00108 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: bone disorder |
0.31 |
0.098 |
0.0016 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: bone disorder |
0.31 |
0.098 |
0.0016 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
0.0722 |
0.0278 |
0.00936 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: gastro-oesophageal reflux (gord) or gastric reflux |
0.0722 |
0.0278 |
0.00936 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
0.1 |
0.0404 |
0.0131 |
Inverse variance weighted |
2 |
trans |
NA |
| Diagnoses - main ICD10: M17 Gonarthrosis [arthrosis of knee] |
0.1 |
0.0404 |
0.0131 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
0.0488 |
0.0197 |
0.0134 |
Inverse variance weighted |
2 |
trans |
NA |
| Non-cancer illness code self-reported: osteoarthritis |
0.0488 |
0.0197 |
0.0134 |
Inverse variance weighted |
2 |
trans |
NA |
| …and 172 more outcomes (see JSON) |
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2. pQTL instrument availability (Tier-B probe)
| Dataset |
Trait |
Author |
Year |
prot-c-4912_17_1 |
GOT1 |
Suhre K |
2019 |
3. GWAS Catalog results — traits with signal at this locus
130 association rows across 83 traits (113 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 |
| Aspartate aminotransferase levels |
1e-609 |
rs749913156 |
11 |
GCST90025980 |
no MR -> candidate analysis |
| Hematological traits (multi-trait analysis) |
3e-122 |
rs11190131 |
2 |
GCST90838671 |
no MR -> candidate analysis |
| Aspartate aminotransferase (AST, minimum, inv-norm transform |
3e-94 |
rs76850691 |
2 |
GCST90479511 |
no MR -> candidate analysis |
| Aspartate aminotransferase (AST, mean, inv-norm transformed) |
4e-88 |
rs76850691 |
2 |
GCST90479510 |
no MR -> candidate analysis |
| mean corpuscular volume (MCV, maximum, inv-norm transformed) |
2e-68 |
rs17094148 |
2 |
GCST90475466 |
no MR -> candidate analysis |
| Aspartate aminotransferase (AST, maximum, inv-norm transform |
2e-63 |
rs76850691 |
1 |
GCST90475116 |
no MR -> candidate analysis |
| mean corpuscular hemoglobin (MCH, minimum, inv-norm transfor |
3e-57 |
rs17094148 |
2 |
GCST90475450 |
no MR -> candidate analysis |
| monocyte (absolute count, mean, inv-norm transformed) |
5e-45 |
rs11190134 |
1 |
GCST90479702 |
no MR -> candidate analysis |
| monocyte (fraction, mean, inv-norm transformed) |
8e-42 |
rs11190134 |
1 |
GCST90479705 |
no MR -> candidate analysis |
| mean corpuscular hemoglobin (MCH, maximum, inv-norm transfor |
5e-41 |
rs17094148 |
1 |
GCST90479672 |
no MR -> candidate analysis |
| mean corpuscular volume (MCV, mean, inv-norm transformed) |
2e-40 |
rs17094148 |
1 |
GCST90479676 |
no MR -> candidate analysis |
| mean corpuscular hemoglobin (MCH, mean, inv-norm transformed |
2e-40 |
rs17094148 |
1 |
GCST90479673 |
no MR -> candidate analysis |
| …and 71 more traits (see JSON) |
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4. Phenome map — where this gene is a genetic locus, vs. where MR exists
Top diseases by Open Targets association (of 559 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 |
| biliary tract disorder |
0.418 |
— |
common-variant locus |
no MR -> candidate analysis |
| obesity disorder |
0.403 |
— |
common-variant locus |
no MR -> candidate analysis |
| Abnormality of the skeletal system |
0.195 |
— |
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 (Vesicle transport protein GOT1B) |
| gnomAD constraint |
pLI=0.0007, LOEUF=0.724 — LoF-tolerant |
| GWAS Catalog |
88 unique SNPs / 176 rows |
| ClinVar |
88 records; 2 pathogenic in sample of 30 |
| PharmGKB/ClinPGx |
no annotations |
phenome — Top 30 of 559 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 ‘GOT1’ and resolved to ‘Vesicle transport protein GOT1B’ — confirm this is the intended target.clinvar — Pathogenic count is over the 30 record(s) retrieved, NOT over all 88 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 83 traits by best p-value, aggregated from 130 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/P17174 — 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 v3.0phenome: https://platform.opentargets.org/target/ENSG00000120053/associations — Open Targets data release 26.06chembl: https://www.ebi.ac.uk/chembl/target_report_card/CHEMBL6066348/ — ChEMBL_37 (released 2026-05-01)gnomad: https://gnomad.broadinstitute.org/gene/GOT1 — gnomAD constraint via GraphQL API (reference genome GRCh38)gwas: https://www.ebi.ac.uk/gwas/genes/GOT1 — GWAS Catalog REST (live; release not exposed by this endpoint)clinvar: https://www.ncbi.nlm.nih.gov/clinvar/?term=GOT1%5Bgene%5D — ClinVar build Build260809-1055.1gwas_traits: https://www.ebi.ac.uk/gwas/genes/GOT1 — GWAS Catalog search API (live; release not exposed)
Provenance
- Generated: 2026-08-14T02:51:45 · 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