CFTRgenet

CFTRgenet is a web-based knowledgebase and network resource focused on the CFTR gene and its molecular interactions. It provides an integrated view of CFTR biology by connecting genetic variants, expression profiles, protein interactions, regulatory elements, and associated pathways to support research on cystic fibrosis and related disorders.

Data sources and curation: CFTRgenet compiles data from public repositories such as ClinVar, dbSNP, GTEx, ENCODE, and pathway databases like REACTOME and STRING, together with published literature and patient cohort studies. Data are harmonized, annotated with metadata, and versioned. The platform supports tissue-specific expression patterns, alternative CFTR transcripts, and variant annotations including pathogenicity predictions and potential modifiers.

Features and tools: The platform provides an interactive network viewer of CFTR-centered interactions, search and filter by gene, variant, tissue, or function, and tools to compute network metrics, identify potential modifier genes, and explore regulatory relationships. It offers an API for programmatic access and options to export networks and associated annotations.

Applications: Researchers use CFTRgenet to study genetic modifiers of cystic fibrosis severity, explore candidate drug targets, and generate hypotheses about genotype-phenotype relationships. Clinically oriented researchers may leverage it to contextualize patient-specific variants and to prioritize experiments.

Development and governance: CFTRgenet is developed by a collaborative consortium of academic laboratories and is released with open access and community-curation guidelines. Updates are scheduled periodically to incorporate new data releases and user-contributed annotations, with versioning and provenance tracking.

Limitations: As a knowledgebase integrating diverse data sources, CFTRgenet depends on the quality of underlying datasets and predictions. Users should validate key findings experimentally, and data should be interpreted in the context of other clinical and experimental evidence.