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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


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Genes hit or close-by
  • F5 coagulation factor V (proaccelerin, labile factor)

 

Results from other genome-wide association studies


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No associations available.

The L1285I variant of F5 may modulate CAMK1 protein levels.

This locus harbours a replicated trans-pQTL with Calcium/calmodulin-dependent protein kinase type 1 (CAMK1) and a cis-pQTL with Coagulation Factor V (F5). rs9332653 tags the L1285I substitution rs1046712 in F5. See Locus 17 for a replicated trans-pQTL with CAMK1 at the same locus, but without F5. See Locus 79 for a replicated trans-pQTL to CAMK on a different chromosome.

The information gathered here is a result of an attempt to keep track of all interesting information that we encountered while investigating these loci. Please bear in mind that the annotation given here is neither complete nor free of errors, and that all information provided here should be confirmed by additional literature research before being used as a basis for firm conclusions or further experiments.