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

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Locus annotations

Locus 413

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Coagulation Factor V cis Discovery rs9332653 1:169,490,772 G/A 0.19 989 0.388 0.057 1.6×10-11 1.080 4.5×10-11 2.1×10-11
Coagulation Factor V cis Replication rs9332653 1:169,490,772 G/A 0.28 337 0.386 0.096 7.5×10-5 1.070 1.6×10-4 7.6×10-5
CAMK1 trans Discovery rs9332653 1:169,490,772 G/A 0.19 989 0.388 0.057 1.9×10-11 1.100 4.6×10-10 1.7×10-7
CAMK1 trans Replication rs9332653 1:169,490,772 G/A 0.28 337 0.360 0.082 1.5×10-5 1.100 1.4×10-5 2.4×10-4

 

Regional association plots

Coagulation Factor V

Download the association data used to generate this plot

Calcium/calmodulin-dependent protein kinase type 1 (CAMK1)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Coagulation Factor V

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

Calcium/calmodulin-dependent protein kinase type 1 (CAMK1)

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

Coagulation Factor V

Target (abbrv.) Coagulation Factor V
Target (full name) Coagulation Factor V
Somalogic ID (Sequence ID) SL000622 (4906-35_1)
Entrez Gene Symbol F5
UniProt ID P12259
UniProt Comment
  • Central regulator of hemostasis. It serves as a critical cofactor for the prothrombinase activity of factor Xa that results in the activation of prothrombin to thrombin.
Targeted by drugs (based on IPA annotation)
  • drotrecogin alfa
  • antithrombin alfa
Biomarker applications (based on IPA annotation)
  • diagnosis
Wiki Pathways
  • Blood Clotting Cascade
  • Complement and Coagulation Cascades
Reactome
  • Common Pathway of Fibrin Clot Formation
  • Platelet degranulation
Pathway Studio
  • Coagulation Cascade

Calcium/calmodulin-dependent protein kinase type 1 (CAMK1)

Target (abbrv.) CAMK1
Target (full name) Calcium/calmodulin-dependent protein kinase type 1
Somalogic ID (Sequence ID) SL010489 (3592-4_3)
Entrez Gene Symbol CAMK1
UniProt ID Q14012
UniProt Comment
  • Calcium/calmodulin-dependent protein kinase that operates in the calcium-triggered CaMKK-CaMK1 signaling cascade and, upon calcium influx, regulates transcription activators activity, cell cycle, hormone production, cell differentiation, actin filament organization and neurite outgrowth. Recognizes the substrate consensus sequence [MVLIF]-x-R-x(2)-[ST]-x(3)-[MVLIF]. Regulates axonal extension and growth cone motility in hippocampal and cerebellar nerve cells. Upon NMDA receptor-mediated Ca(2+) elevation, promotes dendritic growth in hippocampal neurons and is essential in synapses for full long-term potentiation (LTP) and ERK2-dependent translational activation. Downstream of NMDA receptors, promotes the formation of spines and synapses in hippocampal neurons by phosphorylating ARHGEF7/BETAPIX on 'Ser-694', which results in the enhancement of ARHGEF7 activity and activation of RAC1. Promotes neuronal differentiation and neurite outgrowth by activation and phosphorylation of MARK2 on 'Ser-91', 'Ser-92', 'Ser-93' and 'Ser-294'. Promotes nuclear export of HDAC5 and binding to 14-3-3 by phosphorylation of 'Ser-259' and 'Ser-498' in the regulation of muscle cell differentiation. Regulates NUMB-mediated endocytosis by phosphorylation of NUMB on 'Ser-276' and 'Ser-295'. Involved in the regulation of basal and estrogen-stimulated migration of medulloblastoma cells through ARHGEF7/BETAPIX phosphorylation (By similarity). Is required for proper activation of cyclin-D1/CDK4 complex during G1 progression in diploid fibroblasts. Plays a role in K(+) and ANG2-mediated regulation of the aldosterone synthase (CYP11B2) to produce aldosterone in the adrenal cortex. Phosphorylates EIF4G3/eIF4GII. In vitro phosphorylates CREB1, ATF1, CFTR, MYL9 and SYN1/synapsin I.
Wiki Pathways
  • Calcium Regulation in the Cardiac Cell
Pathway Studio
  • EGFR/ERBB3 → MEF/MYOD/NFATC/MYOG signaling
  • GABA(B)R → postsynaptic inhibition
  • NPY1R → CRH/POMC production
  • NeuropeptideYR → ATF/CREB signaling
  • VasopressinR1 → MEF/MYOD/NFATC/MYOG signaling
  • VasopressinR2 → MEF/MYOD/NFATC/MYOG signaling

All locus annotations are based on the sentinel SNP (rs9332653) and 2 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
  • F5 coagulation factor V (proaccelerin, labile factor)