Exome

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Exome

The Exome (/ˈɛksəʊm/) is a part of the genome formed by exons, the sequences which when transcribed remain within the mature RNA after introns are removed by RNA splicing.

Etymology

The term "Exome" is derived from "exon", referring to an expressed region of a gene, and "genome", referring to the complete set of genes or genetic material present in a cell or organism.

Definition

The Exome consists of all the DNA that is transcribed into mature RNA in cells of any type. This includes both the sequences that code for proteins, which are known as coding sequences, and the sequences that do not code for proteins. The exome of the human genome consists of roughly 1% of the total genome, or about 30 million base pairs, and about 85% of all known disease-causing mutations are located in this part of the genome.

Related Terms

  • Genome: The complete set of genes or genetic material present in a cell or organism.
  • Exon: A segment of a DNA or RNA molecule containing information coding for a protein or peptide sequence.
  • Intron: A segment of a DNA or RNA molecule that does not code for proteins and interrupts the sequence of genes.
  • Protein: A large molecule composed of one or more chains of amino acids in a specific order.
  • Coding Sequence: A portion of a gene's DNA or RNA, composed of exons, that codes for protein.
  • RNA Splicing: The process by which introns are removed from heterogeneous nuclear RNA (hnRNA) to produce mature messenger RNA.

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