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exonviz's Introduction

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Exonviz

Visualise exons

Installation

Exonviz only requires Python, and can be installed using PIP:

pip install exonviz

Usage

Pass either a transcript (with version!), or a valid HGVS description to exonviz to generate a figure.

Options

Since each gene is different, you will probably want to play around with the options to get the perfect figure for your favorite gene.

usage: exonviz [-h] [--width WIDTH] [--height HEIGHT] [--noncoding]
               [--gap GAP] [--color COLOR] [--exonnumber]
               [--firstexon FIRSTEXON] [--lastexon LASTEXON]
               transcript

Description of command.

positional arguments:
  transcript            Transcript (with version) to visualise

optional arguments:
  -h, --help            show this help message and exit
  --width WIDTH         Maximum width of the figure (default: inf)
  --height HEIGHT       Exon height (default: 20)
  --noncoding           Show non coding regions (default: False)
  --gap GAP             Gap between the exons (default: 5)
  --color COLOR         Color for the exons (e.g. 'purple') (default: #4C72B7)
  --exonnumber          Show exon number (default: False)
  --firstexon FIRSTEXON
                        The first exon to draw (default: 1)
  --lastexon LASTEXON   The last exon to draw (default: inf)

Examples

SDHD

Using the default settings, which does not include non-coding regions of the transcript:

exonviz SDHD > SDHD.svg

Figure of SDH exons

DMD

For DMD, we explicitly specify the transcript we are interested in. We also set a maximum width for the figure, since DMD has many exons:

exonviz "NM_004006.3" --width 1024 --color purple --exonnumber > DMD.svg

Figure of DMD exons

ATXN1

Include the non coding exons, since most exons of ATXN1 are non coding. We limit the maximum width and increase the height of the picture. For clarity, we also increase the distance between the displayed exons:

exonviz ENST00000436367.6 --noncoding --width 4000 --height 150 --gap 50 > ATXN1.svg

Figure of ATXN1 exons

PLP1

You can also input a valid HGVS description on the transcript of interest. The variant will be ignored. Include the non coding regions and increase the height and distance between the exons:

exonviz "NM_000533.5:c.100G>T" --noncoding --height 100 --gap 50 > PLP1.svg

Figure of PLP1 exons

NF1

Set the maximum width of the figure to the approximate size of the largest exon:

exonviz "ENST00000358273.9" --noncoding --width 3600 --height 75 --gap 20 > examples/NF1-202.svg

Figure of NF1 exons

exonviz's People

Contributors

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Watchers

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exonviz's Issues

Exonviz prints mutalyzer error to stdout

When mutalyzer gives an error response (for example due to an unknown transcript), exonviz simply prints this error to stdout.

Example:

exonviz blabla.3
Fetching 'https://mutalyzer.nl/api/normalize/blabla.3:c.=' returned HTTP Error 422: UNPROCESSABLE ENTITY

Instead, exonviz should either print this error to stdout, or parse it and print a custom error for the user to notify them about what went wrong.

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