Re: Regarding mutation type definition

[Nikolaus Schultz]

Hi,

Can you please send this email to cbiop...@googlegroups.com?

Thanks,

Niki.

On Dec 30, 2019, at 4:10 PM, Sindiri, Sivasish (NIH/NCI) [C] <sivasish...@nih.gov> wrote:

Hi,

 

I am trying to find specific link where you have defined Truncating, Inframe mutation, Missense and Other mutation. When I did a google search, I can see the definition in the search result (like below) but cannot find the exact page in “Cbioportal.org”. I will really appreciate if you can send me the link.

I would like to share this link in a report. You may consider one of the below genes for link.

 

<image001.jpg>

 

Thanks,

Sivasish

[Sindiri, Sivasish (NIH/NCI) [C]]

 

Hi,

 

I am trying to find specific link where you have defined Truncating, Inframe mutation, Missense and Other mutation. When I did a google search, I can see the definition in the search result (like below) but cannot find the exact page in “Cbioportal.org”. I will really appreciate if you can send me the link.

I would like to share this link in a report. You may consider one of the below genes for link.

 

Thanks,

Sivasish

[JJ Gao]

Hi Sivasish,

We follow Sequence Ontology and TCGA MAF specification for the definitions of mutation consequences. For example, missense corresponding to 

- Missense: http://www.sequenceontology.org/browser/current_svn/term/SO:0001583

- Inframe indel: http://www.sequenceontology.org/browser/current_svn/term/SO:0001820

- Truncating includes:

-- Frameshift: http://www.sequenceontology.org/browser/current_svn/term/SO:0001589

-- Nonsense: http://www.sequenceontology.org/browser/current_svn/term/SO:0001587

-- Nonstart: http://www.sequenceontology.org/browser/current_svn/term/SO:0002012

-- Nonstop: http://www.sequenceontology.org/browser/current_svn/term/SO:0002012

-- Splice: http://www.sequenceontology.org/browser/current_svn/term/SO:0001568

Best,

-JJ

 

On Thu, Jan 2, 2020 at 4:30 PM 'Sindiri, Sivasish (NIH/NCI) [C]' via cBioPortal for Cancer Genomics Discussion Group <cbiop...@googlegroups.com> wrote:

 

Hi,

 

I am trying to find specific link where you have defined Truncating, Inframe mutation, Missense and Other mutation. When I did a google search, I can see the definition in the search result (like below) but cannot find the exact page in “Cbioportal.org”. I will really appreciate if you can send me the link.

I would like to share this link in a report. You may consider one of the below genes for link.

 

Thanks,

Sivasish

 

From: Nikolaus Schultz <sch...@cbio.mskcc.org>
Sent: Monday, December 30, 2019 9:28 PM
To: Sindiri, Sivasish (NIH/NCI) [C] <sivasish...@nih.gov>
Cc: cbiop...@cbio.mskcc.org; cBioPortal for Cancer Genomics Discussion Group <cbiop...@googlegroups.com>
Subject: Re: Regarding mutation type definition

 

Hi,

 

Can you please send this email to cbiop...@googlegroups.com?

 

Thanks,

Niki.

 

On Dec 30, 2019, at 4:10 PM, Sindiri, Sivasish (NIH/NCI) [C] <sivasish...@nih.gov> wrote:

 

Hi,

 

I am trying to find specific link where you have defined Truncating, Inframe mutation, Missense and Other mutation. When I did a google search, I can see the definition in the search result (like below) but cannot find the exact page in “Cbioportal.org”. I will really appreciate if you can send me the link.

I would like to share this link in a report. You may consider one of the below genes for link.

 

<image001.jpg>

 

Thanks,

Sivasish

 

--
You received this message because you are subscribed to the Google Groups "cBioPortal for Cancer Genomics Discussion Group" group.
To unsubscribe from this group and stop receiving emails from it, send an email to cbioportal+...@googlegroups.com.
To view this discussion on the web visit https://groups.google.com/d/msgid/cbioportal/BL0PR0901MB3300587932C4508A6944F66F85260%40BL0PR0901MB3300.namprd09.prod.outlook.com.