SynaptopathyDB

SynaptopathyDB integrates data from mammalian synapse proteomic studies and genetic and phenotypic resources to facilitate research into the genetic basis and clinical manifestations of synaptopathy.

Key Features:

• Consensus synapse proteome: Identifies 3,437 mammalian synapse proteins from presynaptic and postsynaptic compartments derived from 64 mammalian synapse proteomic studies.
• Disease-gene associations: Links mutations in 954 genes encoding 28% of the consensus synapse proteome to 1,266 OMIM diseases of the central and peripheral nervous system.
• Multi-source data integration: Combines data from multiple genetic and phenotypic resources with synapse proteomic data.
• Cross-disorder analysis: Supports investigation of synaptic gene variants across neurological, psychiatric, developmental, and systemic disorders.

Scientific Applications:

• Synaptopathy research: Enables study of synaptic dysfunction resulting from pathogenic variants in genes encoding synaptic proteins.
• Genetic basis of nervous system disorders: Facilitates investigation of the genetic and synaptic basis of brain and behavioural disorders.
• Clinical manifestation analysis: Supports research into phenotypic consequences of synaptic gene variants in human disease.
• Omic studies: Provides a defined set of synapse proteins for application in genetic and omic studies.

Methodology:

SynaptopathyDB integrates data from 64 mammalian synapse proteomic studies and multiple genetic and phenotypic resources to identify a consensus set of mammalian synapse proteins and associate them with diseases.