UCSC Genome Browser on D. melanogaster Apr. 2006 (BDGP R5/dm3) Assembly

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Jeffrey G. Scott

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Dec 8, 2017, 11:28:44 AM12/8/17
to gen...@soe.ucsc.edu

I would like to ask your help in use of the genome browser for the DGRP lines.

Specifically, what I am trying to do is evaluate how many non-synonymous SNPs are present in a gene, para in particular.

The browser is very helpful to see the various polymorphisms present in the DGRP lines, but I am not seeing any indication of whether the SNPs are synonymous or not.  Is there any easy way to do this?

I can view at the base level, see the region with the SNP, locate this within the cDNA, translate and compare to the wild type, but there are so many SNPs that this seems horribly laborious. 

I am hoping you can help me find an easier way.

 

Any ideas or suggestions would be most welcome.  Thank you.

 

 

Jeffrey G. Scott

Professor

Department of Entomology

129 Garden Avenue

6134 Comstock Hall

Cornell University

Ithaca, NY  14853

Phone: 1-607-255-7340

Fax: 1-607-255-0939

http://blogs.cornell.edu/scott/

 

 

Matthew Speir

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Dec 8, 2017, 1:08:58 PM12/8/17
to Jeffrey G. Scott, gen...@soe.ucsc.edu
Hi Jeffrey,

Thank you for your question about identifying non-synonymous variants using the UCSC Genome Browser.

If you have your variants in VCF, http://genome.ucsc.edu/goldenPath/help/vcf.html, or pgSNP, http://genome.ucsc.edu/FAQ/FAQformat.html#format10, format, then you can easily use the Variant Annotation Integrator (VAI) to accomplish this. The VAI allows you to upload your variants and then extract information about how these variants might affect the genes they intersect.

Before you go through the steps below, note that you will need to ensure that your variants are in VCF or pgSNP and uploaded to the Genome Browser as custom tracks: http://genome.ucsc.edu/cgi-bin/hgCustom?db=dm3.

Once you have formatted and uploaded your custom tracks, you can use the following steps to get this information from the VAI:

1. Navigate to the VAI for dm3, http://genome.ucsc.edu/cgi-bin/hgVai?db=dm3.
2. Select your variant tracks from the drop-down menu next to "variants".
3. Select the gene set you would like to use as a reference for your variants from the drop-down menu below "Select Genes".
4. Below "Functional Role", uncheck every box except "CDS - non-synonymous".
5. Select your output format (I recommend HTML as it is easier to read).
6. Click "Get results".

I hope this is helpful. If you have any further questions, please reply to gen...@soe.ucsc.edu. All messages sent to that address are archived on a publicly-accessible Google Groups forum. If your question includes sensitive data, you may send it instead to genom...@soe.ucsc.edu.

Matthew Speir
UCSC Genome Bioinformatics Group
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