HelmholtzZentrum munich
WCMC

Connecting genetic risk to disease endpoints through the human blood plasma proteome

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 66

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
TXD12 trans Discovery rs35395347 3:49,334,797 A/G 0.07 996 -1.287 0.077 7.8×10-55 -1.410 3×10-62 9.9×10-45

 

Regional association plots

Thioredoxin domain-containing protein 12 (TXD12)

 

Boxplots and histograms for top associations

Thioredoxin domain-containing protein 12 (TXD12)

inverse-normalized probe levels log2 transformed probe levels raw probe levels
Discovery study

Thioredoxin domain-containing protein 12 (TXD12)

Target (abbrv.) TXD12
Target (full name) Thioredoxin domain-containing protein 12
Somalogic ID (Sequence ID) SL016128 (4815-25_3)
Entrez Gene Symbol TXNDC12
UniProt ID O95881
UniProt Comment
  • Possesses significant protein thiol-disulfide oxidase activity.

All locus annotations are based on the sentinel SNP (rs35395347) and 4 proxy variant(s) that is/are in linkage disequilibrium r2 ≥ 0.8. Linkage disequilibrium is based on data from the 1000 Genomes Project, phase 3 version 5, European population and was retrieved using SNiPA's Block Annotation feature.
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • CCDC36 coiled-coil domain containing 36
  • USP4 ubiquitin specific peptidase 4 (proto-oncogene)
eQTL genes
  • MST1 macrophage stimulating 1
  • MRPS18AP1 mitochondrial ribosomal protein S18A pseudogene 1
  • ZNF589 zinc finger protein 589
  • APEH acylaminoacyl-peptide hydrolase
  • NICN1 nicolin 1
  • AMT aminomethyltransferase

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of USP4 in normal prepouch ileum 4.2×10-4 23474282 (PMID) GRASP2 eQTL