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 3

Top associations per target

Target cis/​trans Study SNP SNP location Maj/​min allele MAF N βinv seinv Pinv fclog Plog Praw
PPAC cis Discovery rs11553746 2:272,203 C/T 0.32 996 1.237 0.026 1.1×10-257 2.510 0 2×10-280
PPAC cis Replication rs11553746 2:272,203 G/A 0.24 337 1.126 0.038 4×10-94 2.910 2.8×10-118 1.2×10-90

 

Regional association plots

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

Download the association data used to generate this plot

 

Boxplots and histograms for top associations

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

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

Low molecular weight phosphotyrosine protein phosphatase (PPAC)

Target (abbrv.) PPAC
Target (full name) Low molecular weight phosphotyrosine protein phosphatase
Somalogic ID (Sequence ID) SL008063 (3858-5_1)
Entrez Gene Symbol ACP1
UniProt ID P24666
UniProt Comment
  • Acts on tyrosine phosphorylated proteins, low-MW aryl phosphates and natural and synthetic acyl phosphates. Isoform 3 does not possess phosphatase activity.
Pathway Interaction Database
  • EPHA2 forward signaling

All locus annotations are based on the sentinel SNP (rs11553746) and 47 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
  • SH3YL1 SH3 and SYLF domain containing 1
  • ACP1 acid phosphatase 1, soluble
  • FAM150B family with sequence similarity 150, member B
  • AC079779.4
Potentially regulated genes
  • SH3YL1 SH3 and SYLF domain containing 1
  • ACP1 acid phosphatase 1, soluble
eQTL genes
  • SH3YL1 SH3 and SYLF domain containing 1
  • ACP1 acid phosphatase 1, soluble

 

Results from other genome-wide association studies

Trait P Study Source
cg13354988 (chr2:263680) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg26398848 (chr2:263535) 3.3×10-310 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg12147994 (chr2:262730) 6.3×10-200 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg03299269 (chr2:249979) 1.3×10-58 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg06762571 (chr2:217627) 7.7×10-44 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
cg11361895 (chr2:261338) 7.4×10-38 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Gene expression of SH3YL1 in blood 1.2×10-30 21829388 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 (probeID ILMN_1712231) in breast tumors 1.5×10-26 22522925 (PMID) GRASP2 eQTL
Gene expression of ACP1 in lymphoblastoid cell lines 8.2×10-14 18193047 (PMID) GRASP2 eQTL
Differential exon level expression of SH3YL1 [probe 2537140] in peripheral blood mononuclear cells 6×10-12 19222302 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 in liver 1.8×10-11 18462017 (PMID) GRASP2 eQTL
Differential exon level expression of ACP1 [probe 2466156] in peripheral blood mononuclear cells 7.1×10-11 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of SH3YL1 [probe 2537141] in peripheral blood mononuclear cells 2.8×10-10 19222302 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 in lymphoblastoid cell lines 1.1×10-9 18193047 (PMID) GRASP2 eQTL
P24666 protein abundance levels 2.5×10-9 22595970 (PMID) GRASP2 pQTL
cg08777771 (chr2:233254) 3.7×10-9 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
Differential exon level expression of SH3YL1 [probe 2537122] in peripheral blood mononuclear cells 4.6×10-8 19222302 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 in CD4+ lymphocytes 2.3×10-7 20833654 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 in T cells 2.9×10-7 19644074 (PMID) GRASP2 eQTL
Differential exon level expression of SH3YL1 [probe 2537129] in peripheral blood mononuclear cells 3.2×10-7 19222302 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 [probe 2537109] in peripheral blood mononuclear cells 5×10-7 19222302 (PMID) GRASP2 eQTL
Height 5.1×10-7 25282103 (PMID) Supplemental file
Gene expression of SH3YL1///ACP1 in blood 1.6×10-6 21829388 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 (ENSG00000035115) in dendritic cells treated with Mycobacterium tuberculosis 3.5×10-6 22233810 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 in blood cells in Celiac disease 4.6×10-6 19128478 (PMID) GRASP2 eQTL
Differential exon level expression of SH3YL1 [probe 2537134] in brain cortex 5.2×10-6 19222302 (PMID) GRASP2 eQTL
Differential exon level expression of SH3YL1 [probe 2537125] in peripheral blood mononuclear cells 8.4×10-6 19222302 (PMID) GRASP2 eQTL
Serum concentration of urea 1.3×10-5 21886157 (PMID) GRASP2 metabQTL
cg25710298 (chr2:286854) 2.9×10-5 10.1101/033084 (DOI) BIOS QTL cis-meQTLs
3-(cystein-S-yl)acetaminophen* 4.6×10-5 24816252 (PMID) gwas.eu via SNiPA
Gene expression of SH3YL1 in normal prepouch ileum 7.6×10-5 23474282 (PMID) GRASP2 eQTL
Differential exon level expression of ACP1 [probeset 2466156] in brain cortex 7.8×10-5 19222302 (PMID) GRASP2 eQTL
Gene expression of SH3YL1 (ENSG00000035115) in dendritic cells 9.1×10-5 22233810 (PMID) GRASP2 eQTL
Transcript initiation of SH3YL1 in lymphoblastoid cell lines 1.6×10-4 18193047 (PMID) GRASP2 eQTL
LDL cholesterol 2.1×10-4 20066028 (PMID) GRASP2 nonQTL
Gene expression of SH3YL1 [probe ILMN_7327] in osteoblasts treated with PGE2 2.1×10-4 21283786 (PMID) GRASP2 eQTL
Alzheimer's disease 2.6×10-4 24162737 (PMID) Supplemental file