The transcriptome is the set of all RNA molecules in one cell or a population of cells. It is sometimes used to refer to all RNAs, or just mRNA, depending on the particular experiment. It differs from the exome in that it includes only those RNA molecules found in a specified cell population, and usually includes the amount or concentration of each RNA molecule in addition to the molecular identities. It differs from the translatome, which is the set of RNAs undergoing translation.


The term can be applied to the total set of transcripts in a given organism, or to the specific subset of transcripts present in a particular cell type. Unlike the genome, which is roughly fixed for a given cell line (excluding mutations), the transcriptome can vary with external environmental conditions. Because it includes all mRNA transcripts in the cell, the transcriptome reflects the genes that are being actively expressed at any given time, with the exception of mRNA degradation phenomena such as transcriptional attenuation.

The study of transcriptomics, (which includes expression profiling, splice variant analysis etc), examines the expression level of RNAs in a given cell population, often focusing on mRNA, but sometimes including others such as tRNAs, sRNAs.

Methods of construction

Transcriptomics techniques include DNA microarrays and next-generation sequencing technologies called RNA-Seq. Transcription can also be studied at the level of individual cells by single-cell transcriptomics.

There are two general methods of inferring transcriptome sequences. One approach maps sequence reads onto a reference genome, either of the organism itself (whose transcriptome is being studied) or of a closely related species. The other approach, de novo transcriptome assembly, uses software to infer transcripts directly from short sequence reads.


A number of organism-specific transcriptome databases have been constructed and annotated to aid in the identification of genes that are differentially expressed in distinct cell populations.

RNA-seq is emerging (2013) as the method of choice for measuring transcriptomes of organisms, though the older technique of DNA microarrays is still used.[1] RNA-seq measures the transcription of a specific gene by converting long RNAs into a library of cDNA fragments. The cDNA fragments are then sequenced using high-throughput sequencing technology and aligned to a reference genome or transcriptome which is then used to create an expression profile of the genes.[2]


The transcriptomes of stem cells and cancer cells are of particular interest to researchers who seek to understand the processes of cellular differentiation and carcinogenesis.

Analysis of the transcriptomes of human oocytes and embryos is used to understand the molecular mechanisms and signaling pathways controlling early embryonic development, and could theoretically be a powerful tool in making proper embryo selection in in vitro fertilisation.

Transcriptomics is an emerging and continually growing field in biomarker discovery for use in assessing the safety of drugs or chemical risk assessment.[3]

Transcriptomes may also be used to infer phylogenetic relationships among individuals.

Relation to proteome

The transcriptome can be seen as a subset of the proteome, that is, the entire set of proteins expressed by a genome.

However, the analysis of relative mRNA expression levels can be complicated by the fact that relatively small changes in mRNA expression can produce large changes in the total amount of the corresponding protein present in the cell. One analysis method, known as gene set enrichment analysis, identifies coregulated gene networks rather than individual genes that are up- or down-regulated in different cell populations.

Although microarray studies can reveal the relative amounts of different mRNAs in the cell, levels of mRNA are not directly proportional to the expression level of the proteins they code for.[4] The number of protein molecules synthesized using a given mRNA molecule as a template is highly dependent on translation-initiation features of the mRNA sequence; in particular, the ability of the translation initiation sequence is a key determinant in the recruiting of ribosomes for protein translation. The complete protein complement of a cell or organism is known as the proteome.

See also


  1. Wang Z, Gerstein M, Snyder M. (2009). RNA-Seq: a revolutionary tool for transcriptomics. Nature Rev. Genetics 10(1): 57-63.
  2. Wang Z, Gerstein M, Snyder M. (2009). RNA-Seq: a revolutionary tool for transcriptomics. Nature Rev. Genetics 10(1): 57-63.
  3. Szabo, David (2014). "Transcriptomic biomarkers in safety and risk assessment of chemicals". Transcriptomic biomarkers in safety and risk assessment of chemicals. In Ramesh Gupta, editors:Gupta - Biomarkers in Toxicology, Oxford:Academic Press. pp. 1033–1038. doi:10.1016/B978-0-12-404630-6.00062-2. ISBN 978-0-12-404630-6.
  4. Schwanhäusser, Björn; et al. (May 2011). "Global quantification of mammalian gene expression control" (PDF). Nature. 473 (7347): 337–342. doi:10.1038/nature10098. PMID 21593866.
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