HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Home
Ideogram
Loci
Network view
Proteome annotation
Help
Locus annotations

Locus 82

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Semaphorin 3A trans Discovery rs2239908 17:26,725,265 A/G 0.46 993 -0.617 0.040 9.5×10-48 -1.110 1.5×10-23 1.6×10-7
Semaphorin 3A trans Replication rs704 17:26,694,861 A/G 0.49 337 -0.411 0.063 3.1×10-10 -1.100 5.4×10-8 5.5×10-6
CAMK1D trans Discovery rs2239908 17:26,725,265 A/G 0.46 993 -0.446 0.043 3×10-24 -1.060 1.2×10-8 0.041
CAMK1D trans Replication rs704 17:26,694,861 A/G 0.49 337 -0.386 0.068 3.9×10-8 -1.050 0.004 0.662
IL-5 trans Discovery rs2239908 17:26,725,265 A/G 0.46 993 0.434 0.042 4.8×10-24 1.070 1.8×10-20 2.2×10-15
IL-5 trans Replication rs704 17:26,694,861 A/G 0.49 337 0.166 0.071 0.02 1.030 0.2 0.381
WISP-1 trans Discovery rs2239908 17:26,725,265 A/G 0.46 993 -0.288 0.044 1.1×10-10 -1.070 4.3×10-10 7.1×10-6
WISP-1 trans Replication rs704 17:26,694,861 A/G 0.49 337 -0.238 0.060 7.7×10-5 -1.070 3.9×10-5 1.3×10-4
Cytidylate kinase trans Discovery rs2239908 17:26,725,265 A/G 0.46 993 0.270 0.044 8×10-10 1.050 2.1×10-8 0.001
Cytidylate kinase trans Replication rs704 17:26,694,861 A/G 0.49 337 0.200 0.072 0.006 1.050 0.009 0.023
Marapsin trans Discovery rs2239908 17:26,725,265 A/G 0.46 993 0.264 0.043 1.6×10-9 1.040 6.7×10-6 0.001
Marapsin trans Replication rs704 17:26,694,861 A/G 0.49 337 0.180 0.070 0.011 1.040 0.064 0.441

 

Regional association plots

Semaphorin-3A (Semaphorin 3A)

Download the association data used to generate this plot

Calcium/calmodulin-dependent protein kinase type 1D (CAMK1D)

Download the association data used to generate this plot

Interleukin-5 (IL-5)

Download the association data used to generate this plot

WNT1-inducible-signaling pathway protein 1 (WISP-1)

Download the association data used to generate this plot

UMP-CMP kinase (Cytidylate kinase)

Download the association data used to generate this plot

Serine protease 27 (Marapsin)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Semaphorin-3A (Semaphorin 3A)

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

Calcium/calmodulin-dependent protein kinase type 1D (CAMK1D)

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

Interleukin-5 (IL-5)

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

WNT1-inducible-signaling pathway protein 1 (WISP-1)

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

UMP-CMP kinase (Cytidylate kinase)

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

Serine protease 27 (Marapsin)

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

Semaphorin-3A (Semaphorin 3A)

Target (abbrv.) Semaphorin 3A
Target (full name) Semaphorin-3A
Somalogic ID (Sequence ID) SL010379 (3222-11_2)
Entrez Gene Symbol SEMA3A
UniProt ID Q14563
UniProt Comment
  • Involved in the development of the olfactory system and in neuronal control of puberty. Induces the collapse and paralysis of neuronal growth cones. Could serve as a ligand that guides specific growth cones by a motility-inhibiting mechanism. Binds to the complex neuropilin-1/plexin-1.
Wiki Pathways
  • angiogenesis overview
Reactome
  • CRMPs in Sema3A signaling
  • SEMA3A-Plexin repulsion signaling by inhibiting Integrin adhesion
  • Sema3A PAK dependent Axon repulsion

Calcium/calmodulin-dependent protein kinase type 1D (CAMK1D)

Target (abbrv.) CAMK1D
Target (full name) Calcium/calmodulin-dependent protein kinase type 1D
Somalogic ID (Sequence ID) SL010490 (3418-12_2)
Entrez Gene Symbol CAMK1D
UniProt ID Q8IU85
UniProt Comment
  • Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, activates CREB-dependent gene transcription, regulates calcium-mediated granulocyte function and respiratory burst and promotes basal dendritic growth of hippocampal neurons. In neutrophil cells, required for cytokine-induced proliferative responses and activation of the respiratory burst. Activates the transcription factor CREB1 in hippocampal neuron nuclei. May play a role in apoptosis of erythroleukemia cells. In vitro, phosphorylates transcription factor CREM isoform Beta.

Interleukin-5 (IL-5)

Target (abbrv.) IL-5
Target (full name) Interleukin-5
Somalogic ID (Sequence ID) SL000481 (3741-4_3)
Entrez Gene Symbol IL5
UniProt ID P05113
UniProt Comment
  • Factor that induces terminal differentiation of late-developing B-cells to immunoglobulin secreting cells.
Biomarker applications (based on IPA annotation)
  • diagnosis
  • efficacy
  • response to therapy

WNT1-inducible-signaling pathway protein 1 (WISP-1)

Target (abbrv.) WISP-1
Target (full name) WNT1-inducible-signaling pathway protein 1
Somalogic ID (Sequence ID) SL004689 (3057-55_1)
Entrez Gene Symbol WISP1
UniProt ID O95388
UniProt Comment
  • Downstream regulator in the Wnt/Frizzled-signaling pathway. Associated with cell survival. Attenuates p53-mediated apoptosis in response to DNA damage through activation of AKT kinase. Up-regulates the anti-apoptotic Bcl-X(L) protein. Adheres to skin and melanoma fibroblasts. In vitro binding to skin fibroblasts occurs through the proteoglycans, decorin and biglycan.

UMP-CMP kinase (Cytidylate kinase)

Target (abbrv.) Cytidylate kinase
Target (full name) UMP-CMP kinase
Somalogic ID (Sequence ID) SL007871 (4786-58_3)
Entrez Gene Symbol CMPK1
UniProt ID P30085
UniProt Comment
  • Catalyzes the phosphorylation of pyrimidine nucleoside monophosphates at the expense of ATP. Plays an important role in de novo pyrimidine nucleotide biosynthesis. Has preference for UMP and CMP as phosphate acceptors. Also displays broad nucleoside diphosphate kinase activity.

Serine protease 27 (Marapsin)

Target (abbrv.) Marapsin
Target (full name) Serine protease 27
Somalogic ID (Sequence ID) SL011069 (3624-3_4)
Entrez Gene Symbol PRSS27
UniProt ID Q9BQR3
UniProt Comment
  • Secreted

All locus annotations are based on the sentinel SNP (rs2239908) and 18 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