HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Ideogram
Proteome annotation
Locus annotations

Locus 232

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ASM3A cis Discovery rs28385609 6:123,122,464 C/T 0.14 993 -0.532 0.061 1.7×10-17 -1.100 1.5×10-9 0.002
ASM3A cis Replication rs13192569 6:123,127,597 G/A 0.21 337 -0.252 0.074 0.001 -1.090 0.002 0.049

 

Regional association plots

Acid sphingomyelinase-like phosphodiesterase 3a (ASM3A)

 

Boxplots and histograms for top associations

Acid sphingomyelinase-like phosphodiesterase 3a (ASM3A)

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

Acid sphingomyelinase-like phosphodiesterase 3a (ASM3A)

Target (abbrv.) ASM3A
Target (full name) Acid sphingomyelinase-like phosphodiesterase 3a
Somalogic ID (Sequence ID) SL012754 (4771-10_3)
Entrez Gene Symbol SMPDL3A
UniProt ID Q92484
UniProt Comment
  • Has in vitro nucleotide phosphodiesterase activity with nucleoside triphosphates, such as ATP (PubMed:25288789, PubMed:26783088). Has in vitro activity with p-nitrophenyl-TMP (PubMed:25288789). Has lower activity with nucleoside diphosphates, and no activity with nucleoside monophosphates (PubMed:25288789, PubMed:26783088). Has in vitro activity with CDP-choline, giving rise to CMP and phosphocholine. Has in vitro activity with CDP-ethanolamine (PubMed:26783088). Does not have sphingomyelin phosphodiesterase activity (PubMed:25288789, PubMed:26783088).

All locus annotations are based on the sentinel SNP (rs28385609) and 3 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
  • SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A
Potentially regulated genes
  • SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A
eQTL genes
  • SMPDL3A sphingomyelin phosphodiesterase, acid-like 3A

 

Results from other genome-wide association studies

No associations available.