HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 407

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
MICA cis Discovery rs17200698 6:31,483,700 C/T 0.04 995 0.813 0.118 1.1×10-11 1.630 4.6×10-9 4.9×10-5

 

Regional association plots

MHC class I polypeptide-related sequence A (MICA)

 

Boxplots and histograms for top associations

MHC class I polypeptide-related sequence A (MICA)

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

MHC class I polypeptide-related sequence A (MICA)

Target (abbrv.) MICA
Target (full name) MHC class I polypeptide-related sequence A
Somalogic ID (Sequence ID) SL005199 (2730-58_2)
Entrez Gene Symbol MICA
UniProt ID Q29983
UniProt Comment
  • Seems to have no role in antigen presentation. Acts as a stress-induced self-antigen that is recognized by gamma delta T-cells. Ligand for the KLRK1/NKG2D receptor. Binding to KLRK1 leads to cell lysis.
Biomarker applications (based on IPA annotation)
  • safety
Pathway Studio
  • Natural Killer Cell Activation
  • Natural Killer Cell Activation through C-type Lectin-like Receptors

All locus annotations are based on the sentinel SNP (rs17200698) and 7 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
  • Y_RNA
  • MICB MHC class I polypeptide-related sequence B
  • PPIAP9 peptidylprolyl isomerase A (cyclophilin A) pseudogene 9
  • XXbac-BPG16N22.5
  • RPL15P4 ribosomal protein L15 pseudogene 4
  • MCCD1 mitochondrial coiled-coil domain 1
  • ATP6V1G2 ATPase, H+ transporting, lysosomal 13kDa, V1 subunit G2
  • ATP6V1G2-DDX39B ATP6V1G2-DDX39B readthrough (NMD candidate)
  • NFKBIL1 nuclear factor of kappa light polypeptide gene enhancer in B-cells inhibitor-like 1
  • LST1 leukocyte specific transcript 1
  • NCR3 natural cytotoxicity triggering receptor 3
eQTL genes

 

Results from other genome-wide association studies

Trait P Study Source
Schizophrenia 2.9×10-4 23974872 (PMID) Supplemental file