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EpilepsyGene: a genetic resource for genes and mutations related to epilepsy.

Ran X, Li J, Shao Q, Chen H, Lin Z, Sun ZS, Wu J - Nucleic Acids Res. (2014)

Bottom Line: With intensive effort made during the last two decades, numerous genes and mutations have been published to be associated with the disease.An intuitive web interface to search and browse the diversified genetic data was also developed to facilitate access to the data of interest.In general, EpilepsyGene is designed to be a central genetic database to provide the research community substantial convenience to uncover the genetic basis of epilepsy.

View Article: PubMed Central - PubMed

Affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China.

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Related in: MedlinePlus

An example of data access in EpilepsyGene. Gene card mainly consists of three parts: gene annotation, mutation spectrum of the gene and related phenotypes. Gene annotation includes basic information, related GO and pathways, information in OMIM and MGI, and brain expression level in different periods and regions. Mutation spectrum depicts the mutations of the gene schematically, which can be linked to a detailed report of the variant. Phenotypes associated with the gene are presented by gene–disease network.
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Figure 1: An example of data access in EpilepsyGene. Gene card mainly consists of three parts: gene annotation, mutation spectrum of the gene and related phenotypes. Gene annotation includes basic information, related GO and pathways, information in OMIM and MGI, and brain expression level in different periods and regions. Mutation spectrum depicts the mutations of the gene schematically, which can be linked to a detailed report of the variant. Phenotypes associated with the gene are presented by gene–disease network.

Mentions: EpilepsyGene provides a specified gene card for each gene. Take the gene PCDH19 for example, a gene card specific for PCDH19 can be obtained through ‘Browse by gene’, and the card is documented with ‘gene annotations’, ‘mutations in the PCDH19’, ‘mutation spectrum of PCDH19’ and ‘related phenotypes’ (Figure 1). Gene annotation covers basic information, related GO (20) terms and pathways, information in MGI (25) and OMIM (26), gene expression level in 12 developmental periods and 16 brain regions, and the corresponding expression pattern in the brain. Mutations in PCDH19 are displayed through a detailed table, and a hyperlink is provided for each mutation to be linked to a detailed mutation report. Mutation spectrum visualizes the distribution of mutations, and may indicate that mutations in PCDH19 mainly distribute on the first coding exon. Phenotypes associated with the gene are schematized, with each circle (gene or phenotype) linked to a detailed page.


EpilepsyGene: a genetic resource for genes and mutations related to epilepsy.

Ran X, Li J, Shao Q, Chen H, Lin Z, Sun ZS, Wu J - Nucleic Acids Res. (2014)

An example of data access in EpilepsyGene. Gene card mainly consists of three parts: gene annotation, mutation spectrum of the gene and related phenotypes. Gene annotation includes basic information, related GO and pathways, information in OMIM and MGI, and brain expression level in different periods and regions. Mutation spectrum depicts the mutations of the gene schematically, which can be linked to a detailed report of the variant. Phenotypes associated with the gene are presented by gene–disease network.
© Copyright Policy - creative-commons
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4384015&req=5

Figure 1: An example of data access in EpilepsyGene. Gene card mainly consists of three parts: gene annotation, mutation spectrum of the gene and related phenotypes. Gene annotation includes basic information, related GO and pathways, information in OMIM and MGI, and brain expression level in different periods and regions. Mutation spectrum depicts the mutations of the gene schematically, which can be linked to a detailed report of the variant. Phenotypes associated with the gene are presented by gene–disease network.
Mentions: EpilepsyGene provides a specified gene card for each gene. Take the gene PCDH19 for example, a gene card specific for PCDH19 can be obtained through ‘Browse by gene’, and the card is documented with ‘gene annotations’, ‘mutations in the PCDH19’, ‘mutation spectrum of PCDH19’ and ‘related phenotypes’ (Figure 1). Gene annotation covers basic information, related GO (20) terms and pathways, information in MGI (25) and OMIM (26), gene expression level in 12 developmental periods and 16 brain regions, and the corresponding expression pattern in the brain. Mutations in PCDH19 are displayed through a detailed table, and a hyperlink is provided for each mutation to be linked to a detailed mutation report. Mutation spectrum visualizes the distribution of mutations, and may indicate that mutations in PCDH19 mainly distribute on the first coding exon. Phenotypes associated with the gene are schematized, with each circle (gene or phenotype) linked to a detailed page.

Bottom Line: With intensive effort made during the last two decades, numerous genes and mutations have been published to be associated with the disease.An intuitive web interface to search and browse the diversified genetic data was also developed to facilitate access to the data of interest.In general, EpilepsyGene is designed to be a central genetic database to provide the research community substantial convenience to uncover the genetic basis of epilepsy.

View Article: PubMed Central - PubMed

Affiliation: Institute of Genomic Medicine, Wenzhou Medical University, Wenzhou 325000, China.

Show MeSH
Related in: MedlinePlus