5' Untranslated region (5'UTR)

The 5' Untranslated Region (5' UTR) is a specific section of an mRNA molecule that begins at the transcription start site and ends just before the start codon (usually AUG) of the coding region. The following Figure shows a view of the 5'UTR of the F9 gene in the UCSC browser.

Example

Kosem etl al (2012) report on a Cathepsin C gene 5'-untranslated region mutation in Papillon-Lefèvre syndrome (PLS) The authors analyzed 6 PLS cases and 12 unaffected relatives. A homozygous substitution was named c.-55C>A was detected in all patients in a homozygous state. Unaffecteds were heterozygous or had homozygous wildtype (thus, there was cosegregation). The patients had fairly characteristic clinical manifestations (thus, there was characteristic Clinical phenotype). CTSC mRNA expression in the PLS-affected patients was seriously reduced, being less than 2.5%, compared to the expression in the healthy control subjects (thus, the effect can be characteirzed as reduced expression) In two patients (2 and 4) available for the functional analysis, the CTSC activity was less than 1.5% compared to the activity of the healthy control subjects (an effect at protein level).

We therefore enter

• Gene: CTSC
• Variant: c.-55C>A (using the HGVS option)
• Variant category: 5UTR
• TODO-how to code the above stuff
• Citation: PMID:23108224