Exome location query

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Guevarra, Ma Carmela B.

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Sep 28, 2023, 7:20:25 PM9/28/23
to gen...@soe.ucsc.edu
Good day,

I hope this email finds you well. I would like to inquire about how to find an exon location using the USCS genome browser. I have watched some of the youtube tutorials however it was 8 years ago and they were using the outdated version. Also, would there be an upcoming training program? thank you very much.

Kind regards,

Mela

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Gerardo Perez

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Oct 11, 2023, 12:09:37 PM10/11/23
to Guevarra, Ma Carmela B., gen...@soe.ucsc.edu

Hello, Mela.

Thank you for your interest in the UCSC Genome Browser and for sending your inquiry.

You can use the Table Browser to get the exon locations for a gene or list of genes. The gene name would have to match the gene names in a gene track. You would have to select a gene track dataset to extract the exon data. Here are two gene tracks that we offer for human hg38/hg19 and mouse mm10/mm39:

NCBI RefSeq: http://genome.ucsc.edu/cgi-bin/hgTrackUi?db=hg38&g=refSeqComposite&position=default

GENCODE: http://genome.ucsc.edu/cgi-bin/hgTrackUi?db=hg38&g=knownGene&position=default

The following FAQ entry can explain the differences between the NCBI RefSeq and GENCODE tracks: https://genome.ucsc.edu/FAQ/FAQgenes.html#ensRefseq

As an example, you can do the following to get the exon locations from the hg38 GENCODE V44 track by using a list of gene names:

1. Navigate to the Table Browser (http://genome.ucsc.edu/cgi-bin/hgTables) and make the following selections:

clade: Mammal
genome: Human
assembly: Dec. 2013 (GRCh38/hg38)
group: Genes and Gene Predictions
track: GENCODE V44
table: knownGene

2. Set the region to “genome”

3. Click "paste list" or "upload list" next to identifiers (names/accessions): and enter/upload a list of gene names such as the following and then click "submit":

ENST00000429094.7
ENST00000402170.5
ENST00000455411.1
NM_001798
ENST00000271690.6
uc002rqy.5

6. Insert a name next to “output filename”

7. Set the output format to “Selected fields from primary and related tables”. This will allow you to select fields of interest. Click "get output"

8. Select “name”, “chrom”, “exonStarts”, “exonEnds”, and other fields of interest. These fields will give you the gene name and exon locations in the genome for the genes

6. Click “get output”

The output will then give you the exon locations for the list of genes.

For more information on using the Table Browser, please review the Table Browser User Guide:
https://genome.ucsc.edu/goldenPath/help/hgTablesHelp.html

One way to get the exon location from the browser graphic display for hg38 would be by right-clicking on the exon for the NCBI RefSeq Track. You will see the “Zoom to exon” option. This option will take you to the location for the exon on the browser graphic.

As for your question about an upcoming training program, unfortunately; we do not have an upcoming UCSC Genome Browser training scheduled.

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.

Gerardo Perez
UCSC Genomics Institute


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Guevarra, Ma Carmela B.

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Oct 31, 2023, 7:52:49 PM10/31/23
to Gerardo Perez, gen...@soe.ucsc.edu
Hi Gerardo,

Thank you so much for your help. I was able to look for the exon.

I have a question, I have been trying to look for the SNPs in the UCSC. I have also tried searching for it in the table browser and have been following the instructions in the video attached. https://www.youtube.com/watch?v=Y_cQ3JkhsUQ). However, it says that dbSNP tables are huge and i proceeded to Data Access FAQ to download dbSNP data.  I downloaded the dbSnp153Common.bb (hg38) but i couldn't open it. I searched on google and tried downloading Blitzmax to read the files but no success.  Do you know which software I can use for the bb file? or is there any way for me to check the SNPs of my variant of interest as seen in UCSC?

Thank you so much again.

Sincerely,
Mela

This tutorial demonstrates how to find all the single nucleotide polymorphisms in a gene using the UCSC Genome Browser. 0:43 - Set up Genome Browser display to see your gene. 1:35 - Turn on the SNPs track to see SNPs in your gene. 3:27 - Get SNPs from the Table Browser. 4:36 - Load Table Browser results as a Custom Track. Transcript of video ...


From: Gerardo Perez <gpe...@ucsc.edu>
Sent: Wednesday, October 11, 2023 12:09 PM
To: Guevarra, Ma Carmela B. <mgue...@meei.harvard.edu>
Cc: gen...@soe.ucsc.edu <gen...@soe.ucsc.edu>
Subject: Re: [genome] Exome location query
 

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Matthew Speir

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Nov 1, 2023, 5:41:39 PM11/1/23
to Guevarra, Ma Carmela B., Gerardo Perez, gen...@soe.ucsc.edu
Hello, Mela.

You can open bigBed/bb files using the utility bigBedToBed:
If you know the positions of the SNPs you're interested in, you can use the "-bed" option to output only items in the specified regions.

Additionally, if you're interested in a specific subset of SNPs, you can find info about downloading the different subsets here: https://genome.ucsc.edu/FAQ/FAQdownloads.html#snp. (It uses dbSnp153 as an example, but it's easy to change the URLs to point to dbSnp155 files.)

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 Browser, User Support

UC Santa Cruz Genomics Institute

Revealing life’s code.



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