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

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Locus annotations

Locus 324

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
Angiogenin cis Discovery rs11624221 14:21,128,050 G/C 0.33 997 -0.335 0.044 8.6×10-14 -1.080 2.9×10-12 4.8×10-8
Angiogenin cis Replication rs11620733 14:21,125,838 G/A 0.31 337 -0.256 0.078 0.001 -1.070 0.001 0.001

 

Regional association plots

 

Boxplots and histograms for top associations

Angiogenin

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

Angiogenin

Target (abbrv.) Angiogenin
Target (full name) Angiogenin
Somalogic ID (Sequence ID) SL000003 (4874-3_1)
Entrez Gene Symbol ANG
UniProt ID P03950
UniProt Comment
  • Binds to actin on the surface of endothelial cells; once bound, angiogenin is endocytosed and translocated to the nucleus. Stimulates ribosomal RNA synthesis including that containing the initiation site sequences of 45S rRNA. Cleaves tRNA within anticodon loops to produce tRNA-derived stress-induced fragments (tiRNAs) which inhibit protein synthesis and triggers the assembly of stress granules (SGs). Angiogenin induces vascularization of normal and malignant tissues. Angiogenic activity is regulated by interaction with RNH1 in vivo.
Biomarker applications (based on IPA annotation)
  • response to therapy

All locus annotations are based on the sentinel SNP (rs11624221).
Download the detailed results of SNiPA's block annotation (PDF)

Linked genes


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eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
cg00858760 (chr14:21121322) 7.4×10-11 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
"Gene expression of ANG [transcript NM_001145, probe A_23_P428738] in liver" 1.4×10-6 21637794 (PMID) GRASP2 eQTL