FertilityOnline

FertilityOnline consolidates literature-curated functional genes and genetic variant information to support analysis of genetic determinants of human spermatogenesis and male infertility.

Key Features:

• Integrated Database: Combines literature-curated functional genes involved in spermatogenesis with genetic variant information for human genes and integrates these data with SpermatogenesisOnline 1.0.
• Functional Annotation and Genetic Variants: Provides detailed functional annotations and genetic variant data to facilitate identification and interpretation of potential disease-causing mutations.
• Cross-species Knowledge Integration: Bridges knowledge between human and animal model data to aid interpretation of gene function in spermatogenesis.
• Clinical Mutation Identification: Has been used to identify novel causative mutations in proteins such as synaptonemal complex central element protein 1 (SYCE1) and stromal antigen 3 (STAG3) implicated in azoospermia.

Scientific Applications:

• Genetic basis analysis of spermatogenesis: Supports discovery and prioritization of candidate genes underlying male infertility.
• Clinical variant interpretation: Enables identification and contextualization of disease-causing mutations in infertile men, including mutations in SYCE1 and STAG3 associated with azoospermia.
• Comparative functional analysis: Facilitates comparison of gene function between humans and animal models to inform spermatogenesis research.

Methodology:

Curated literature on functional genes during spermatogenesis and integrated these data into the SpermatogenesisOnline 1.0 database.