mutation_report

[Instructions]
mutation_report

Show the diversity and number of mutations found database wide in the selected gene. One purpose of the report is to determine if a given mutation, or mutation position is often mutated. The output is a table of datasource, mutation, position and number of times found in the dataset. Graphical versions are implemented in Oasis Genomics and cBio Portal.

Usage: Enter a gene symbol into the HUGO box. press submit.

example query show the mutations found in KRAS.

Background: Typically, a mutation will be identified in a gene that does not match one of the cannonical drivers or tumor suppressors. These mutations are often ignored. However, if the sample is very important like a therapy resistant tumor or an exceptional responder to treatment, then every mutation will be analyzed carefully to see how it relates to the biology of the tumor and the treatment. One way to gather support for a mutation's significance is to see if that mutation has ever been observed before in any dataset. Certain amino acid positions are critical to a protein's function and mutations falling on the same position may indicate an important residue. Certain mutations are also more prevalent in tumors from specific tissues. It can be useful to see where else a specific mutation occurs. Beware of tumors with mutator phenotypes / MSI tumors that contain > 1000 somatic mutations as these can be passengers. (Check using MUT-COUNT)

dev: querying for multiple genes in the HUGO box and checking dataset frequency box will instead generate a table of source x gene containing the percentage of sample containing a mutation in the given gene.