[ensembl-dev] Wrongly documented gene_adaptor method ?

[Andy Yates]

Hi Trevor,

Alt allele does cover patches as well as haplotype regions. For example if we take the patch fix region GL383517.1 (which is HG999_2_PATCH in Ensembl) and run the following query:

select aa.alt_allele_id
from seq_region sr 
join gene g using (seq_region_id)
join alt_allele aa on (g.gene_id = aa.gene_id)
where sr.name = 'HG999_2_PATCH';

That gives us an alt_allele_id of 1579. We then try to find the stable IDs linked to this ID & if it's the reference gene or not:

select stable_id, is_ref
from gene 
join alt_allele using (gene_id)
where alt_allele_id = 1579;

stable_id	is_ref
ENSG00000229663	1
ENSG00000260191	0

This same logic is available from the $gene->get_all_alt_alleles() method. Once you have the other genes you can decipher the type of assembly exception we have performed using the $slice->assembly_exception_type() method which will report REF, PATCH_FIX, PATCH_NOVEL or HAP.

Regards,

Andy


On 25 Jun 2012, at 13:50, PATERSON Trevor wrote:

>  
> According to the Perl documentation, you should be able to get a list of genes for a given display label, using:
>  
> public    Listref    Bio::EnsEMBL::DBSQL::GeneAdaptor::fetch_all_by_display_label ( )
>  
> However,  this method is wrongly documented in the online perl docs, and does not return an array – but a single gene object
>  
> my @genes = @{$geneAdaptor->fetch_by_display_label("TBC1D3B")};
> DEBUGGER ERROR MESSAGE : Not an ARRAY reference
>  
> When you look at the real code in Release 67 API, rather than the www perldocs, the method actually returns a single gene, preferring one that is on a reference slice.
>  
> I am looking for a way of getting alternative gene models on Patch exceptions: and this method would have been promising. e.g for the geneENSG00000224226 Location Chromosome 17: 34,493,061-34,503,984 how do I get its equivalent on the patch-fix ENSG00000260069 Location Chromosome HG75_PATCH: 34,493,132-34,503,984.
>  
>  
> obviously I can dig into the API and call the appropriate sql code myself:
>  
> my $constraint = "x.display_label = '". $gene->display_xref()->display_id()."' AND g.is_current = 1";
> my @same_labelled_genes = @{ $gene_adaptor->generic_fetch($constraint) };
>  
>  
> but is there an alternative (simple) method to get either ‘same_labelled’ genes  or ideally ‘equivalent-exception’ genes for a given gene?
>  
> the method
> public    Listref    Bio::EnsEMBL::Gene::get_all_alt_alleles ( )
>  
> of course does something similar using the alt_alleles table , but only for alternative haplotypes not patches.
>  
> Thanks
>  
> Trevor
>  
>  
> Trevor Paterson PhD
> trevor.paterson at roslin.ed.ac.uk
> Bioinformatics 
> The Roslin Institute
> Royal (Dick) School of Veterinary Studies
> University of Edinburgh
> Easter Bush
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> 
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> 
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