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  2. Exon - Wikipedia

    en.wikipedia.org/wiki/Exon

    In protein-coding genes, the exons include both the protein-coding sequence and the 5′- and 3′-untranslated regions (UTR). Often the first exon includes both the 5′-UTR and the first part of the coding sequence, but exons containing only regions of 5′-UTR or (more rarely) 3′-UTR occur in some genes, i.e. the UTRs may contain introns. [11]

  3. Exome sequencing - Wikipedia

    en.wikipedia.org/wiki/Exome_sequencing

    Exome sequencing, also known as whole exome sequencing (WES), is a genomic technique for sequencing all of the protein-coding regions of genes in a genome (known as the exome). [1] It consists of two steps: the first step is to select only the subset of DNA that encodes proteins .

  4. Exon trapping - Wikipedia

    en.wikipedia.org/wiki/Exon_trapping

    Exon trapping is a molecular biology ... The genomic fragment is inserted into the intron of a 'splicing vector' consisting of a known exon - intron - exon sequence ...

  5. Exonic splicing enhancer - Wikipedia

    en.wikipedia.org/wiki/Exonic_splicing_enhancer

    Short sequences of DNA are transcribed to RNA; then this RNA is translated to a protein. A gene located in DNA will contain introns and exons. Part of the process of preparing the RNA includes splicing out the introns, sections of RNA that do not code for the protein. The presence of exonic splicing enhancers is essential for proper ...

  6. Exome - Wikipedia

    en.wikipedia.org/wiki/Exome

    Overall, whole-exome sequencing has allowed healthcare providers to diagnose 30–50% of patients who were thought to have rare Mendelian disorders. [citation needed] It has been suggested that whole-exome sequencing in clinical settings has many unexplored advantages. Not only can the exome increase our understanding of genetic patterns, but ...

  7. Exon junction complex - Wikipedia

    en.wikipedia.org/wiki/Exon_junction_complex

    An exon junction complex (EJC) is a protein complex which forms on a pre-messenger RNA strand at the junction of two exons which have been joined together during RNA splicing. The EJC has major influences on translation , surveillance , localization of the spliced mRNA , and m 6 A methylation .

  8. Exonic splicing silencer - Wikipedia

    en.wikipedia.org/wiki/Exonic_splicing_silencer

    The SMN1 gene produces a complete transcript, while SMN2 produces a transcript without exon 7 which results in a truncated protein. [4] The ESS that contributes to the disease phenotype is the UAGACA nucleotide sequence. This sequence arises when a C-to-T mutation occurs at position +6 in exon 7 of the SMN2 gene.

  9. Alternative splicing - Wikipedia

    en.wikipedia.org/wiki/Alternative_splicing

    Alternative splicing produces three protein isoforms.Protein A includes all of the exons, whereas Proteins B and C result from exon skipping.. Alternative splicing, alternative RNA splicing, or differential splicing, is an alternative splicing process during gene expression that allows a single gene to produce different splice variants.