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WCMC

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

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Locus annotations

Locus 61

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ENTP5 cis Discovery rs17094448 14:74,440,119 A/G 0.07 991 -1.339 0.076 1.2×10-60 -1.300 5.4×10-68 5.8×10-55
ENTP5 cis Replication rs73301485 14:74,468,643 A/G 0.21 337 -0.926 0.071 7.5×10-32 -1.280 9.3×10-34 5.3×10-31

 

Regional association plots

Ectonucleoside triphosphate diphosphohydrolase 5 (ENTP5)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Ectonucleoside triphosphate diphosphohydrolase 5 (ENTP5)

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

Ectonucleoside triphosphate diphosphohydrolase 5 (ENTP5)

Target (abbrv.) ENTP5
Target (full name) Ectonucleoside triphosphate diphosphohydrolase 5
Somalogic ID (Sequence ID) SL014028 (4437-56_3)
Entrez Gene Symbol ENTPD5
UniProt ID O75356
UniProt Comment
  • Uridine diphosphatase (UDPase) that promotes protein N-glycosylation and ATP level regulation. UDP hydrolysis promotes protein N-glycosylation and folding in the endoplasmic reticulum, as well as elevated ATP consumption in the cytosol via an ATP hydrolysis cycle. Together with CMPK1 and AK1, constitutes an ATP hydrolysis cycle that converts ATP to AMP and results in a compensatory increase in aerobic glycolysis. The nucleotide hydrolyzing preference is GDP > IDP > UDP, but not any other nucleoside di-, mono- or triphosphates, nor thiamine pyrophosphate. Plays a key role in the AKT1-PTEN signaling pathway by promoting glycolysis in proliferating cells in response to phosphoinositide 3-kinase (PI3K) signaling.
UniPathway
  • protein glycosylation

All locus annotations are based on the sentinel SNP (rs17094448) and 144 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
Potentially regulated genes
  • ABCD4 ATP-binding cassette, sub-family D (ALD), member 4
  • PNMA1 paraneoplastic Ma antigen 1
eQTL genes
  • ENTPD5 ectonucleoside triphosphate diphosphohydrolase 5
  • ALDH6A1 aldehyde dehydrogenase 6 family, member A1
  • CCDC176 coiled-coil domain containing 176
  • LIN52 lin-52 DREAM MuvB core complex component

 

Results from other genome-wide association studies

Trait P Study Source
cg18638434 (chr14:74486675) 5.4×10-66 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg11191049 (chr14:74485489) 1.3×10-26 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg12774845 (chr14:74486288) 1.5×10-16 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
"Gene expression of COQ6 [transcript NM_182480, probe A_23_P65584] in liver" 7.1×10-7 21637794 (PMID) GRASP2 eQTL
"Gene expression of ENTPD5 [transcript NM_001249, probe A_23_P117580] in liver" 2.6×10-6 21637794 (PMID) GRASP2 eQTL
Gene expression of COQ6 in liver 6.8×10-6 18462017 (PMID) GRASP2 eQTL