HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 308

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DLRB1 trans Discovery rs3737276 1:248,024,073 A/C 0.28 992 0.361 0.047 3.6×10-14 1.130 3×10-13 7.8×10-6
DLRB1 trans Replication rs3737277 1:248,023,966 G/A 0.22 337 -0.020 0.056 0.726 -1.010 0.835 0.673

 

Regional association plots

Dynein light chain roadblock-type 1 (DLRB1)

 

Boxplots and histograms for top associations

Dynein light chain roadblock-type 1 (DLRB1)

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

Dynein light chain roadblock-type 1 (DLRB1)

Target (abbrv.) DLRB1
Target (full name) Dynein light chain roadblock-type 1
Somalogic ID (Sequence ID) SL011530 (3845-51_2)
Entrez Gene Symbol DYNLRB1
UniProt ID Q9NP97
UniProt Comment
  • Acts as one of several non-catalytic accessory components of the cytoplasmic dynein 1 complex that are thought to be involved in linking dynein to cargos and to adapter proteins that regulate dynein function. Cytoplasmic dynein 1 acts as a motor for the intracellular retrograde motility of vesicles and organelles along microtubules.
Pathway Interaction Database
  • TGF-beta receptor signaling
Reactome
  • Intraflagellar transport

All locus annotations are based on the sentinel SNP (rs3737276) and 9 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
  • TRIM58 tripartite motif containing 58
eQTL genes
  • OR2W3 olfactory receptor, family 2, subfamily W, member 3
  • TRIM58 tripartite motif containing 58
  • OR2T8 olfactory receptor, family 2, subfamily T, member 8

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of OR2W3 in blood 5.3×10-20 21829388 (PMID) GRASP2 eQTL
Gene expression of TRIM58 in blood 6.5×10-13 21829388 (PMID) GRASP2 eQTL