mutation, RNA-Seq, copy number
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2.2 years ago
Rob ▴ 170

by looking at mRNA vs mut type, how we interpret the TP53 expression difference between truncating and missense mutations. https://ibb.co/Ld8KWD3 image from cibioportal

Is this a correct explanation: FPKM, fragments per kilobase of exon per million reads, is a measure of gene expression normalized by exonic length and library size. For TP53, missense mutation has higher level of mRNA expression than truncated mutation. This may be because the genes with the truncated mutations have shorter length and are not functional. So, they have the and smaller read values. While in the missense mutations we have full length genes; they are also more functional. So, they have more normalized read count. These are because the FPKM normalization is according to full length of the original gene, and it is not easy to map truncated genes based on the original genes. This means that the truncated gene will be expressed, but as it is truncated, they do not have lots of reads. Therefore, it is difficult to map it to the original gene.

RNA-Seq • 301 views
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