Question: How to find mutations uniqueness in different resources/databases?
gravatar for DanielC
15 months ago by
DanielC140 wrote:

Dear Friends,

I have identified some mutations in ESR1 gene through Sanger Sequencing. From initial analysis by looking at Ensembl, I see that those mutations are novel (Source mentioned in Ensembl is "dbSNP"). However, I want to check the novelty of these mutations in other mutations/variations databases. Could you please suggest me what other databases I could look at? And, how can I do this analysis of finding the novelty of the mutations I identified in the ESR1 gene in different databases?


clinical databases mutation • 271 views
ADD COMMENTlink modified 15 months ago by Denise CS5.1k • written 15 months ago by DanielC140
gravatar for Denise CS
15 months ago by
Denise CS5.1k
UK, Hinxton, EMBL-EBI
Denise CS5.1k wrote:

Not sure if I understand it correctly. If the variant (mutation) you have identified is in dbSNP (there is an rs ID for it, which you've seen in Ensembl), it's not novel. You could also a look at gnomAD, Open Targets Genetics, Open Targets Platform, UniProt...

ADD COMMENTlink written 15 months ago by Denise CS5.1k

Thanks! I am checking for the presense of identified novel mutations in all these database to see if they exist in any of them. In addition to this, could you please let me know how can I find the population information these ESR1 mutations information in these databases have come from? Thanks for your time.

ADD REPLYlink written 15 months ago by DanielC140
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