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WCMC

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

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Locus annotations

Locus 353

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
IMDH1 trans Discovery rs1354034 3:56,849,749 C/T 0.38 995 -0.328 0.045 5.4×10-13 -1.130 1×10-10 0.002
IMDH1 trans Replication rs1354034 3:56,849,749 A/G 0.47 337 0.127 0.066 0.058 1.050 0.171 0.692
DLRB1 trans Discovery rs1354034 3:56,849,749 C/T 0.38 995 -0.294 0.044 6.1×10-11 -1.110 7.5×10-11 6.7×10-7
DLRB1 trans Replication rs1354034 3:56,849,749 A/G 0.47 337 0.120 0.045 0.009 1.110 0.005 0.004
AMPM2 trans Discovery rs1354034 3:56,849,749 C/T 0.38 995 -0.277 0.045 1.2×10-9 -1.060 2.4×10-8 1.8×10-9
AMPM2 trans Replication rs1354034 3:56,849,749 A/G 0.47 337 0.064 0.041 0.122 1.020 0.361 0.047

 

Regional association plots

Inosine-5'-monophosphate dehydrogenase 1 (IMDH1)

Download the association data used to generate this plot

Dynein light chain roadblock-type 1 (DLRB1)

Download the association data used to generate this plot

Methionine aminopeptidase 2 (AMPM2)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Inosine-5'-monophosphate dehydrogenase 1 (IMDH1)

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

Dynein light chain roadblock-type 1 (DLRB1)

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

Methionine aminopeptidase 2 (AMPM2)

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

Inosine-5'-monophosphate dehydrogenase 1 (IMDH1)

Target (abbrv.) IMDH1
Target (full name) Inosine-5'-monophosphate dehydrogenase 1
Somalogic ID (Sequence ID) SL014735 (5229-90_3)
Entrez Gene Symbol IMPDH1
UniProt ID P20839
UniProt Comment
  • Catalyzes the conversion of inosine 5'-phosphate (IMP) to xanthosine 5'-phosphate (XMP), the first committed and rate-limiting step in the de novo synthesis of guanine nucleotides, and therefore plays an important role in the regulation of cell growth. Could also have a single-stranded nucleic acid-binding activity and could play a role in RNA and/or DNA metabolism. It may also have a role in the development of malignancy and the growth progression of some tumors.
Targeted by drugs (based on IPA annotation)
  • thioguanine
  • VX-944
  • pegintron/ribavirin
  • PEG-interferon alfa-2a/ribavirin
  • nitazoxanide/peginterferon alfa-2a/ribavirin
  • interferon alfa-2b/ribavirin
  • mycophenolate mofetil
  • mycophenolic acid
  • ribavirin

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

Methionine aminopeptidase 2 (AMPM2)

Target (abbrv.) AMPM2
Target (full name) Methionine aminopeptidase 2
Somalogic ID (Sequence ID) SL007261 (3170-6_1)
Entrez Gene Symbol METAP2
UniProt ID P50579
UniProt Comment
  • Cotranslationally removes the N-terminal methionine from nascent proteins. The N-terminal methionine is often cleaved when the second residue in the primary sequence is small and uncharged (Met-Ala-, Cys, Gly, Pro, Ser, Thr, or Val). The catalytic activity of human METAP2 toward Met-Val peptides is consistently two orders of magnitude higher than that of METAP1, suggesting that it is responsible for processing proteins containing N-terminal Met-Val and Met-Thr sequences in vivo.
Targeted by drugs (based on IPA annotation)
  • nitroxoline
  • beloranib
  • PPI-2458
Biomarker applications (based on IPA annotation)
  • unspecified application

All locus annotations are based on the sentinel SNP (rs1354034).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes

Genes hit or close-by
  • ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3
Potentially regulated genes
  • CCDC66 coiled-coil domain containing 66
  • ARHGEF3 Rho guanine nucleotide exchange factor (GEF) 3