2017 | Simon Fishilevich, Ron Nudel, Noa Rappaport, Rotem Hadar, Inbar Plaschkes, Tsippi Iny Stein, Naomi Rosen, Asher Kohn, Michal Twik, Marilyn Safran, Doron Lancet and Dana Cohen
GeneHancer is a database integrating human enhancers and their target genes within the GeneCards framework. It combines data from four genome-wide sources: ENCODE, Ensembl regulatory build, FANTOM, and VISTA Enhancer Browser, resulting in 285,000 integrated enhancer candidates covering 12.4% of the genome. Each enhancer is assigned a confidence score based on multiple factors, including the number of supporting sources, overlap with conserved regions, and transcription factor binding site (TFBS) information. GeneHancer links enhancers to genes using methods such as eQTLs, eRNA co-expression, TF co-expression, Hi-C, and gene-enhancer distance. These methods generate a combinatorial score for enhancer-gene pairing, with 'elite' associations indicating strong links. GeneHancer predictions are integrated into the GeneCards Suite, aiding in variant-phenotype interpretation. The database is freely available for research and education. Enhancer-gene associations were validated against experimental studies, showing high agreement. GeneHancer also provides a gene-enhancer network, with 'double elite' associations indicating high confidence. The database supports whole-genome sequencing analysis by linking non-coding variants to genes and providing confidence scores. It is useful for identifying regulatory elements, including non-coding RNA (ncRNA) regulatory elements. Enhancer information is particularly relevant for detecting copy number variations (CNVs) associated with disease. The database integrates data from multiple sources, enhancing the validity of enhancer-gene associations. GeneHancer is a valuable resource for understanding gene regulation and its role in disease.GeneHancer is a database integrating human enhancers and their target genes within the GeneCards framework. It combines data from four genome-wide sources: ENCODE, Ensembl regulatory build, FANTOM, and VISTA Enhancer Browser, resulting in 285,000 integrated enhancer candidates covering 12.4% of the genome. Each enhancer is assigned a confidence score based on multiple factors, including the number of supporting sources, overlap with conserved regions, and transcription factor binding site (TFBS) information. GeneHancer links enhancers to genes using methods such as eQTLs, eRNA co-expression, TF co-expression, Hi-C, and gene-enhancer distance. These methods generate a combinatorial score for enhancer-gene pairing, with 'elite' associations indicating strong links. GeneHancer predictions are integrated into the GeneCards Suite, aiding in variant-phenotype interpretation. The database is freely available for research and education. Enhancer-gene associations were validated against experimental studies, showing high agreement. GeneHancer also provides a gene-enhancer network, with 'double elite' associations indicating high confidence. The database supports whole-genome sequencing analysis by linking non-coding variants to genes and providing confidence scores. It is useful for identifying regulatory elements, including non-coding RNA (ncRNA) regulatory elements. Enhancer information is particularly relevant for detecting copy number variations (CNVs) associated with disease. The database integrates data from multiple sources, enhancing the validity of enhancer-gene associations. GeneHancer is a valuable resource for understanding gene regulation and its role in disease.