VPS13B

vacuolar protein sorting 13 homolog B

This gene encodes a potential transmembrane protein that may function in vesicle-mediated transport and sorting of proteins within the cell. This protein may play a role in the development and the function of the eye, hematological system, and central nervous system. Mutations in this gene have been associated with Cohen syndrome. Multiple splice variants encoding distinct isoforms have been identified for this gene.

provided by RefSeq

Biological Domains

Endolysosome, Lipid Metabolism, Proteostasis, Synapse

Pharos Class

Tbio

Also known as

ENSG00000132549 (Ensembl Release 115)

UNIPROTKB Q7Z7G8

BLTP5B, CHS1, COH1

Summary of Evidence

This tab shows an overview of how the selected gene is associated with AD.

  • Genetic Association with LOAD

    Indicates whether or not this gene shows significant genetic association with Late Onset AD (LOAD) based on evidence from multiple studies compiled by the ADSP Gene Verification Committee
    False

  • Brain eQTL

    Indicates whether or not this gene locus has a significant expression Quantitative Trait Locus (eQTL) based on an AMP-AD consortium study
    True

  • RNA Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    True

  • Protein Expression Change in AD Brain

    Indicates whether or not this gene shows significant differential protein expression in at least one brain region based on AMP-AD consortium work. See ‘EVIDENCE’ tab.
    False

  • Nominated Target

    Indicates whether or not this gene has been submitted as a nominated target to Agora.
    False

AD Risk Scores

About AD Risk Scores

The TREAT-AD Center at Emory-Sage-SGC has developed a Target Risk Score (TRS) to objectively rank the potential involvement of specific genes in AD. The TRS is derived by summing two component risk scores, the Genetic Risk Score and the Multi-omic Risk Score, each of which is derived from a meta-analysis of multiple harmonized data sets. More information about the methodology used to define these risk scores is available here.

AD Risk Scores for VPS13B

The TRS for VPS13B, along with the component Genetic and Multi-omic Risk Scores, is shown here. The scores for VPS13B are superimposed on the genome-wide score distributions. If No Data is Currently Available is displayed for a score, that score was not calculated for VPS13B.

Biological Domain Classification

About Biological Domains

A biological domain represents a standardized area of biology defined by a set of discrete, biologically coherent GO terms. The TREAT-AD Center at Emory-Sage-SGC has defined nineteen biological domains associated with AD, and objectively mapped genes to those biological domains using GO term annotations. More information about the methodology used to define AD biological domains, and to generate genome-wide biological domain mappings, is available here.

Biological Domains for VPS13B

Select a biological domain on the left to see the list of GO terms that link VPS13B to it on the right. The percentage value displayed next to the currently selected biological domain indicates the proportion of VPS13B's total unique GO terms that map to the biological domain. The ratio displayed on the right indicates how many of the biological domain's total GO terms VPS13B is annotated with.