HelmholtzZentrum munich
WCMC

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

ONLINE SUPPLEMENTARY INFORMATION

Home
Ideogram
Loci
Network view
Proteome annotation
Help
Locus annotations

Locus 68

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
SPARCL1 cis Discovery rs4693167 4:88,423,913 T/C 0.37 997 0.680 0.042 2.6×10-53 1.130 9.3×10-52 4.1×10-50
SPARCL1 cis Replication rs7681694 4:88,462,729 A/G 0.47 337 -0.506 0.060 7.6×10-16 -1.130 1.9×10-15 3.3×10-15

 

Regional association plots

 

Boxplots and histograms for top associations

SPARC-like protein 1 (SPARCL1)

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

SPARC-like protein 1 (SPARCL1)

Target (abbrv.) SPARCL1
Target (full name) SPARC-like protein 1
Somalogic ID (Sequence ID) SL005488 (4467-49_2)
Entrez Gene Symbol SPARCL1
UniProt ID Q14515
UniProt Comment
  • Secreted
Biomarker applications (based on IPA annotation)
  • disease progression

All locus annotations are based on the sentinel SNP (rs4693167) and 36 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
eQTL genes
  • SPARCL1 SPARC-like 1 (hevin)
  • NUDT9 nudix (nucleoside diphosphate linked moiety X)-type motif 9
  • HSD17B11 hydroxysteroid (17-beta) dehydrogenase 11
  • HSD17B13 hydroxysteroid (17-beta) dehydrogenase 13
  • PPM1K protein phosphatase, Mg2+/Mn2+ dependent, 1K
  • RP11-529H2.2

 

Results from other genome-wide association studies

Trait P Study Source
Gene expression of S73397 in liver 4.3×10-5 18462017 (PMID) GRASP2 eQTL
Differential exon level expression of SPARCL1 [probe 2777142] in brain cortex 4.7×10-5 19222302 (PMID) GRASP2 eQTL
Gene expression of SPARCL1 in liver 8.3×10-5 18462017 (PMID) GRASP2 eQTL
Gene expression of DHRS8 in blood 9×10-5 21829388 (PMID) GRASP2 eQTL
Gene expression of NUDT9 in blood 4.3×10-4 21829388 (PMID) GRASP2 eQTL