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

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Locus annotations

Locus 333

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
BCAR3 trans Discovery rs9901901 17:26,610,513 T/C 0.48 995 0.320 0.043 1.3×10-13 1.040 9.1×10-6 0.012
OCAD1 trans Discovery rs9901901 17:26,610,513 T/C 0.48 995 0.323 0.044 3.4×10-13 1.040 0.001 0.091
Macrophage scavenger receptor trans Discovery rs9901901 17:26,610,513 T/C 0.48 995 0.304 0.044 9.3×10-12 1.060 5×10-5 0.264
ABL2 trans Discovery rs9901901 17:26,610,513 T/C 0.48 995 0.276 0.043 2.2×10-10 1.030 0.013 0.395
TYK2 trans Discovery rs9901901 17:26,610,513 T/C 0.48 995 0.255 0.043 5.8×10-9 1.040 4.3×10-8 6.1×10-6
DRAK2 trans Discovery rs9901901 17:26,610,513 T/C 0.48 995 0.252 0.043 8.7×10-9 1.040 1.4×10-7 7.8×10-6

 

Regional association plots

Breast cancer anti-estrogen resistance protein 3 (BCAR3)

Download the association data used to generate this plot

OCIA domain-containing protein 1 (OCAD1)

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Macrophage scavenger receptor types I and II (Macrophage scavenger receptor)

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Abelson tyrosine-protein kinase 2 (ABL2)

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Non-receptor tyrosine-protein kinase TYK2 (TYK2)

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Serine/threonine-protein kinase 17B (DRAK2)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Breast cancer anti-estrogen resistance protein 3 (BCAR3)

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

OCIA domain-containing protein 1 (OCAD1)

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

Macrophage scavenger receptor types I and II (Macrophage scavenger receptor)

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

Abelson tyrosine-protein kinase 2 (ABL2)

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

Non-receptor tyrosine-protein kinase TYK2 (TYK2)

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

Serine/threonine-protein kinase 17B (DRAK2)

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

Breast cancer anti-estrogen resistance protein 3 (BCAR3)

Target (abbrv.) BCAR3
Target (full name) Breast cancer anti-estrogen resistance protein 3
Somalogic ID (Sequence ID) SL014470 (5262-57_3)
Entrez Gene Symbol BCAR3
UniProt ID O75815
UniProt Comment
  • May act as an adapter protein and couple activated growth factor receptors to a signaling pathway that regulates the proliferation in breast cancer cells. When overexpressed, it confers anti-estrogen resistance in breast cancer cell lines. May also be regulated by cellular adhesion to extracellular matrix proteins.
Pathway Interaction Database
  • Regulation of CDC42 activity

OCIA domain-containing protein 1 (OCAD1)

Target (abbrv.) OCAD1
Target (full name) OCIA domain-containing protein 1
Somalogic ID (Sequence ID) SL010530 (3635-76_4)
Entrez Gene Symbol OCIAD1
UniProt ID Q9NX40
UniProt Comment
  • EBI-2683029

Macrophage scavenger receptor types I and II (Macrophage scavenger receptor)

Target (abbrv.) Macrophage scavenger receptor
Target (full name) Macrophage scavenger receptor types I and II
Somalogic ID (Sequence ID) SL004580 (3684-78_3)
Entrez Gene Symbol MSR1
UniProt ID P21757
UniProt Comment
  • Membrane glycoproteins implicated in the pathologic deposition of cholesterol in arterial walls during atherogenesis. Two types of receptor subunits exist. These receptors mediate the endocytosis of a diverse group of macromolecules, including modified low density lipoproteins (LDL). Isoform III does not internalize acetylated LDL.
Reactome
  • Scavenging by Class A Receptors

Abelson tyrosine-protein kinase 2 (ABL2)

Target (abbrv.) ABL2
Target (full name) Abelson tyrosine-protein kinase 2
Somalogic ID (Sequence ID) SL010488 (5261-13_3)
Entrez Gene Symbol ABL2
UniProt ID P42684
UniProt Comment
  • Non-receptor tyrosine-protein kinase that plays an ABL1-overlapping role in key processes linked to cell growth and survival such as cytoskeleton remodeling in response to extracellular stimuli, cell motility and adhesion and receptor endocytosis. Coordinates actin remodeling through tyrosine phosphorylation of proteins controlling cytoskeleton dynamics like MYH10 (involved in movement); CTTN (involved in signaling); or TUBA1 and TUBB (microtubule subunits). Binds directly F-actin and regulates actin cytoskeletal structure through its F-actin-bundling activity. Involved in the regulation of cell adhesion and motility through phosphorylation of key regulators of these processes such as CRK, CRKL, DOK1 or ARHGAP35. Adhesion-dependent phosphorylation of ARHGAP35 promotes its association with RASA1, resulting in recruitment of ARHGAP35 to the cell periphery where it inhibits RHO. Phosphorylates multiple receptor tyrosine kinases like PDGFRB and other substrates which are involved in endocytosis regulation such as RIN1. In brain, may regulate neurotransmission by phosphorylating proteins at the synapse. ABL2 acts also as a regulator of multiple pathological signaling cascades during infection. Pathogens can highjack ABL2 kinase signaling to reorganize the host actin cytoskeleton for multiple purposes, like facilitating intracellular movement and host cell exit. Finally, functions as its own regulator through autocatalytic activity as well as through phosphorylation of its inhibitor, ABI1.
Reactome
  • Role of Abl in Robo-Slit signaling

Non-receptor tyrosine-protein kinase TYK2 (TYK2)

Target (abbrv.) TYK2
Target (full name) Non-receptor tyrosine-protein kinase TYK2
Somalogic ID (Sequence ID) SL007181 (5260-80_3)
Entrez Gene Symbol TYK2
UniProt ID P29597
UniProt Comment
  • Probably involved in intracellular signal transduction by being involved in the initiation of type I IFN signaling. Phosphorylates the interferon-alpha/beta receptor alpha chain.
Wiki Pathways
  • IL-4 signaling pathway
  • IL-6 signaling pathway
Pathway Interaction Database
  • IL12-mediated signaling events
  • IL23-mediated signaling events
  • IL27-mediated signaling events
  • IL6-mediated signaling events
  • Signaling events mediated by PTP1B
Reactome
  • ERK1 activation
  • ERK2 activation
  • Interferon alpha/beta signaling
  • Interleukin-6 signaling
  • Regulation of IFNA signaling
Pathway Studio
  • BradykininR → STAT3 signaling
  • CD8+ T-cell Activation
  • CNTFR → STAT3 signaling
  • CSF1R → STAT signaling
  • CSF3R → STAT signaling
  • GHR → STAT signaling
  • IFNAR → STAT signaling
  • IL10R → STAT signaling
  • IL12R → NF-kB/NFATC signaling
  • IL12R → STAT signaling
  • IL13R → STAT signaling
  • IL22R → STAT3 signaling
  • IL6R → STAT signaling
  • LIFR → STAT5A signaling
  • Nociception-related IL6 expression targets
  • PTAFR → STAT3 signaling
  • Th1 Cell Differentiation
  • Th17 Cell Differentiation
  • ThrombinR → STAT1 signaling
  • ThrombopoietinR → STAT signaling
  • UrokinaseR → ELK-SRF signaling
  • UrokinaseR → STAT signaling
  • VEGFR → STAT signaling

Serine/threonine-protein kinase 17B (DRAK2)

Target (abbrv.) DRAK2
Target (full name) Serine/threonine-protein kinase 17B
Somalogic ID (Sequence ID) SL016566 (5249-31_3)
Entrez Gene Symbol STK17B
UniProt ID O94768
UniProt Comment
  • Phosphorylates myosin light chains (By similarity). Acts as a positive regulator of apoptosis.

All locus annotations are based on the sentinel SNP (rs9901901).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes


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Genes hit or close-by
eQTL genes
  • TMEM97 transmembrane protein 97
  • TMEM199 transmembrane protein 199
  • SARM1 sterile alpha and TIR motif containing 1

 

Results from other genome-wide association studies


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No associations available.