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The "Gene" section is designed to visualize the mutation information of a driver gene in five different aspects.
We retrieved mutation information of the selected genes in various cancer patients from The Cancer Genome Atlas (TCGA) resource.
Recently, Menden et al. (2013) combined structures of drugs and mutation information of cell lines to predict drug cytotoxicity in a series of cell lines.
Somatic mutation information of level-2 exome and clinical data for ovarian serous cystadenocarcinoma (OV), lung adenocarcinoma (LUAD), uterine corpus endometrial carcinoma (UCEC), glioblastoma multiforme (GBM) and breast invasive carcinoma (BRCA) from TCGA were downloaded and filtered.
To assess whether mutation information of the COSMIC database is biased to a set of specific genes that are frequently studied, we calculated mutation occurrence of each gene product using an independent set of whole-genome sequencing data [ 6, 23– 26].
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Searching the 23 mutations by gene name in the COSMIC database, which contain somatic mutation information for various types of human cancer, shows nineteen genes being present in COSMIC, however the mutations were at different position; searching by exact positions shows the presence of the same mutations for KCTD8 and CACNB3.
These categories included information about the published study, protein under study (rat or mouse GAT1 in this case), basic experimental conditions, mutation information, general description of data, experimental method used, experiment conclusion, as well as others (see Table 1).
In the future, we will integrate the protein structure information with mutation information in the context of PPI network to further understand the connection of TSG and OCG proteins in the cancer development.
Furthermore, KEGG does not provide any mutation information and the effect of mutation on networks could not be evaluated with KEGG.
Unfortunately, the diversity of mutation information systems and the underlying data models make it difficult to mine human variation databases in an integrative approach.
These results echo our previous results obtained using the EMU system alone, and demonstrate that the complete set of material associated with a publication is commonly considered in curation of mutation information.
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Justyna Jupowicz-Kozak
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