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WCMC

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

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Locus annotations

Locus 318

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
ARSB cis Discovery rs6865582 5:78,201,833 C/G 0.46 997 -0.329 0.043 7.2×10-14 -1.060 0.005 0.595
ARSB cis Replication rs11741352 5:78,186,558 G/A 0.29 337 -0.104 0.079 0.191 -1.020 0.535 0.974

 

Regional association plots

 

Boxplots and histograms for top associations

Arylsulfatase B (ARSB)

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

Arylsulfatase B (ARSB)

Target (abbrv.) ARSB
Target (full name) Arylsulfatase B
Somalogic ID (Sequence ID) SL008956 (3172-28_2)
Entrez Gene Symbol ARSB
UniProt ID P15848
UniProt Comment
  • Removes sulfate groups from chondroitin-4-sulfate (C4S) and regulates its degradation (PubMed:19306108). Involved in the regulation of cell adhesion, cell migration and invasion in colonic epithelium (PubMed:19306108). In the central nervous system, is a regulator of neurite outgrowth and neuronal plasticity, acting through the control of sulfate glycosaminoglycans and neurocan levels (By similarity).
Reactome
  • CS/DS degradation
  • Glycosphingolipid metabolism
  • MPS VI - Maroteaux-Lamy syndrome
  • The activation of arylsulfatases

All locus annotations are based on the sentinel SNP (rs6865582) 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

Genes hit or close-by
  • ARSB arylsulfatase B