HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 297

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
DERM cis Discovery rs494189 1:168,707,757 G/A 0.25 997 -0.355 0.045 1.1×10-14 -1.070 1.9×10-13 2×10-11
DERM cis Replication rs628718 1:168,697,942 A/G 0.41 337 -0.336 0.067 7.3×10-7 -1.090 1.9×10-6 3.7×10-5

 

Regional association plots

 

Boxplots and histograms for top associations

Dermatopontin (DERM)

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

Dermatopontin (DERM)

Target (abbrv.) DERM
Target (full name) Dermatopontin
Somalogic ID (Sequence ID) SL008178 (4979-34_2)
Entrez Gene Symbol DPT
UniProt ID Q07507
UniProt Comment
  • Seems to mediate adhesion by cell surface integrin binding. May serve as a communication link between the dermal fibroblast cell surface and its extracellular matrix environment. Enhances TGFB1 activity. Inhibits cell proliferation. Accelerates collagen fibril formation, and stabilizes collagen fibrils against low-temperature dissociation (By similarity).

All locus annotations are based on the sentinel SNP (rs494189) and 15 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
Potentially regulated genes
  • DPT dermatopontin
eQTL genes
  • DPT dermatopontin

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of DPT in normal prepouch ileum 1.1×10-4 23474282 (PMID) GRASP2 eQTL