bio-ensembl 1.1.0
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- data/.document +5 -0
- data/Gemfile +20 -0
- data/Gemfile.lock +40 -0
- data/LICENSE.txt +20 -0
- data/README.rdoc +19 -0
- data/Rakefile +71 -0
- data/VERSION +1 -0
- data/bin/ensembl +40 -0
- data/bin/variation_effect_predictor +106 -0
- data/bio-ensembl.gemspec +190 -0
- data/lib/bio-ensembl.rb +65 -0
- data/lib/bio-ensembl/core/activerecord.rb +1812 -0
- data/lib/bio-ensembl/core/collection.rb +64 -0
- data/lib/bio-ensembl/core/project.rb +262 -0
- data/lib/bio-ensembl/core/slice.rb +657 -0
- data/lib/bio-ensembl/core/transcript.rb +409 -0
- data/lib/bio-ensembl/core/transform.rb +95 -0
- data/lib/bio-ensembl/db_connection.rb +205 -0
- data/lib/bio-ensembl/variation/activerecord.rb +536 -0
- data/lib/bio-ensembl/variation/variation_feature.rb +376 -0
- data/lib/bio-ensembl/variation/variation_feature62.rb +444 -0
- data/samples/ensembl_genomes_example.rb +60 -0
- data/samples/examples_perl_tutorial.rb +125 -0
- data/samples/small_example_ruby_api.rb +34 -0
- data/samples/variation_effect_predictor_data.txt +4 -0
- data/samples/variation_example.rb +67 -0
- data/test/data/seq_c6qbl.fa +10 -0
- data/test/data/seq_cso19_coding.fa +16 -0
- data/test/data/seq_cso19_transcript.fa +28 -0
- data/test/data/seq_drd3_gene.fa +838 -0
- data/test/data/seq_drd3_transcript.fa +22 -0
- data/test/data/seq_drd4_transcript.fa +24 -0
- data/test/data/seq_forward_composite.fa +1669 -0
- data/test/data/seq_par_boundary.fa +169 -0
- data/test/data/seq_rnd3_transcript.fa +47 -0
- data/test/data/seq_ub2r1_coding.fa +13 -0
- data/test/data/seq_ub2r1_gene.fa +174 -0
- data/test/data/seq_ub2r1_transcript.fa +26 -0
- data/test/data/seq_y.fa +2 -0
- data/test/default/test_connection.rb +60 -0
- data/test/default/test_releases.rb +130 -0
- data/test/ensembl_genomes/test_collection.rb +122 -0
- data/test/ensembl_genomes/test_gene.rb +46 -0
- data/test/ensembl_genomes/test_slice.rb +65 -0
- data/test/ensembl_genomes/test_variation.rb +38 -0
- data/test/helper.rb +18 -0
- data/test/release_50/core/test_project.rb +210 -0
- data/test/release_50/core/test_project_human.rb +52 -0
- data/test/release_50/core/test_relationships.rb +72 -0
- data/test/release_50/core/test_sequence.rb +170 -0
- data/test/release_50/core/test_slice.rb +116 -0
- data/test/release_50/core/test_transcript.rb +125 -0
- data/test/release_50/core/test_transform.rb +217 -0
- data/test/release_50/variation/test_activerecord.rb +138 -0
- data/test/release_50/variation/test_variation.rb +79 -0
- data/test/release_53/core/test_gene.rb +61 -0
- data/test/release_53/core/test_project.rb +91 -0
- data/test/release_53/core/test_project_human.rb +61 -0
- data/test/release_53/core/test_slice.rb +42 -0
- data/test/release_53/core/test_transform.rb +57 -0
- data/test/release_53/variation/test_activerecord.rb +137 -0
- data/test/release_53/variation/test_variation.rb +66 -0
- data/test/release_56/core/test_gene.rb +61 -0
- data/test/release_56/core/test_project.rb +91 -0
- data/test/release_56/core/test_slice.rb +49 -0
- data/test/release_56/core/test_transform.rb +57 -0
- data/test/release_56/variation/test_activerecord.rb +141 -0
- data/test/release_56/variation/test_consequence.rb +131 -0
- data/test/release_56/variation/test_variation.rb +63 -0
- data/test/release_60/core/test_gene.rb +61 -0
- data/test/release_60/core/test_project_human.rb +34 -0
- data/test/release_60/core/test_slice.rb +42 -0
- data/test/release_60/core/test_transcript.rb +120 -0
- data/test/release_60/core/test_transform.rb +57 -0
- data/test/release_60/variation/test_activerecord.rb +216 -0
- data/test/release_60/variation/test_consequence.rb +153 -0
- data/test/release_60/variation/test_variation.rb +64 -0
- data/test/release_62/core/test_gene.rb +42 -0
- data/test/release_62/variation/test_activerecord.rb +86 -0
- data/test/release_62/variation/test_consequence.rb +191 -0
- metadata +287 -0
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# = ensembl/core/transcript.rb - ActiveRecord mapping to Ensembl core for transcript
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#
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# Copyright:: Copyright (C) 2007 Jan Aerts <http://jandot.myopenid.com>
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# License:: The Ruby License
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#
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# @author Jan Aerts
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module Ensembl
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nil
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module Core
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# The Intron class describes an intron.
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#
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# This class does _not_ use ActiveRecord and is only defined within the API.
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# There is no _introns_ table in the Ensembl database.
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#
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# This class includes the mixin Sliceable, which means that it is mapped
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# to a SeqRegion object and a Slice can be created for objects o this
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# class. See Sliceable and Slice for more information.
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#
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# @example
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# exon1 = Ensembl::Core::Exon.find(292811)
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# exon2 = Ensembl::Core::Exon.find(292894)
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# intron = Ensembl::Core::Intron.new(exon1,exon2)
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# puts intron.to_yaml
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#
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# transcript = Ensembl::Core::Transcript.find(58972)
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# puts transcript.introns.to_yaml
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class Intron
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include Sliceable
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attr_accessor :seq_region, :seq_region_start, :seq_region_end, :seq_region_strand
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attr_accessor :previous_exon, :next_exon, :transcript
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def initialize(exon_1, exon_2)
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# Check if these are actually two adjacent exons from the same transcript
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ok = true
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transcript = nil
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exon_1.transcripts.each do |t|
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transcript = t if exon_2.transcripts.include?(t)
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end
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raise ArgumentError, "Arguments should be adjacent exons of same transcript" if transcript.nil?
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rank_1 = ExonTranscript.find_by_transcript_id_and_exon_id(transcript.id, exon_1.id).rank
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rank_2 = ExonTranscript.find_by_transcript_id_and_exon_id(transcript.id, exon_2.id).rank
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raise ArgumentError, "Arguments should be adjacent exons of same transcript" if (rank_2 - rank_1).abs > 1
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@previous_exon, @next_exon = [exon_1, exon_2].sort_by{|e| e.seq_region_start}
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@transcript = transcript
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@seq_region = @previous_exon.seq_region
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@seq_region_start = @previous_exon.seq_region_end + 1
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@seq_region_end = @next_exon.seq_region_start - 1
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@seq_region_strand = @previous_exon.seq_region_strand
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end
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end
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# The Transcript class provides an interface to the transcript
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# table. This table contains mappings of transcripts for a Gene to a
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# SeqRegion.
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#
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# This class uses ActiveRecord to access data in the Ensembl database.
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# See the general documentation of the Ensembl module for
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# more information on what this means and what methods are available.
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#
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# This class includes the mixin Sliceable, which means that it is mapped
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# to a SeqRegion object and a Slice can be created for objects of this
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# class. See Sliceable and Slice for more information.
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#
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# @example
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# #TODO
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class Transcript < DBConnection
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include Sliceable
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set_table_name 'transcript'
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set_primary_key 'transcript_id'
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belongs_to :gene
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belongs_to :seq_region
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has_one :transcript_stable_id
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has_many :transcript_attribs
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has_many :exon_transcripts
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has_many :exons, :through => :exon_transcripts, :order => "exon_transcript.rank"
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has_one :translation
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has_many :object_xrefs, :foreign_key => 'ensembl_id', :conditions => "ensembl_object_type = 'Transcript'"
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has_many :xrefs, :through => :object_xrefs
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has_many :transcript_supporting_features
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has_many :dna_align_features, :through => :transcript_supporting_features, :conditions => ["feature_type = 'dna_align_feature'"]
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has_many :protein_align_features, :through => :transcript_supporting_features, :conditions => ["feature_type = 'protein_align_feature'"]
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alias attribs transcript_attribs
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# The Transcript#exons method returns the exons for this transcript in
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# the order of their ranks in the exon_transcript table.
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#
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# @return [Array<Exon>] Sorted array of Exon objects
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#def exons
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# if @exons.nil?
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# @exons = self.exon_transcripts(:include => [:exons]).sort_by{|et| et.rank.to_i}.collect{|et| et.exon}
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# end
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# return @exons
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#end
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# The Transcript#introns methods returns the introns for this transcript
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#
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# @return [Array<Intron>] Sorted array of Intron objects
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def introns
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if @introns.nil?
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@introns = Array.new
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if self.exons.length > 1
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self.exons.each_with_index do |exon, index|
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next if index == 0
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@introns.push(Intron.new(self.exons[index - 1], exon))
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end
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end
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end
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return @introns
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end
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# The Transcript#stable_id method returns the stable ID of the transcript.
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#
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# @return [String] Ensembl stable ID of the transcript.
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def stable_id
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return self.transcript_stable_id.stable_id
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end
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# The Transcript#display_label method returns the default name of the transcript.
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def display_label
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return Xref.find(self.display_xref_id).display_label
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end
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alias :display_name :display_label
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alias :label :display_label
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alias :name :display_label
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# The Transcript#find_all_by_stable_id class method returns an array of
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# transcripts with the given stable_id. If none were found, an empty
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# array is returned.
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def self.find_all_by_stable_id(stable_id)
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answer = Array.new
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transcript_stable_id_objects = Ensembl::Core::TranscriptStableId.find_all_by_stable_id(stable_id)
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transcript_stable_id_objects.each do |transcript_stable_id_object|
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answer.push(Ensembl::Core::Transcript.find(transcript_stable_id_object.transcript_id))
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end
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return answer
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end
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# The Transcript#find_all_by_stable_id class method returns a
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# transcripts with the given stable_id. If none was found, nil is returned.
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def self.find_by_stable_id(stable_id)
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all = self.find_all_by_stable_id(stable_id)
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if all.length == 0
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return nil
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else
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return all[0]
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end
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end
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# The Transcript#find_by_stable_id class method fetches a Transcript object based on
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# its stable ID (i.e. the "ENST" accession number). If the name is
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# not found, it returns nil.
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def self.find_by_stable_id(stable_id)
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transcript_stable_id = TranscriptStableId.find_by_stable_id(stable_id)
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if transcript_stable_id.nil?
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return nil
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else
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return transcript_stable_id.transcript
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end
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end
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# The Transcript#seq method returns the full sequence of all concatenated
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# exons.
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def seq
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if @seq.nil?
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@seq = ''
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self.exons.each do |exon|
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@seq += exon.seq
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end
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end
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return @seq
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end
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# The Transcript#cds_seq method returns the coding sequence of the transcript,
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# i.e. the concatenated sequence of all exons minus the UTRs.
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def cds_seq
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cds_length = self.coding_region_cdna_end - self.coding_region_cdna_start + 1
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return self.seq[(self.coding_region_cdna_start - 1), cds_length]
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end
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# The Transcript#five_prime_utr_seq method returns the sequence of the
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# 5'UTR of the transcript.
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def five_prime_utr_seq
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return self.seq[0, self.coding_region_cdna_start - 1]
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end
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# The Transcript#three_prime_utr_seq method returns the sequence of the
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# 3'UTR of the transcript.
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def three_prime_utr_seq
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return self.seq[self.coding_region_cdna_end..-1]
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end
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# The Transcript#protein_seq method returns the sequence of the
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# protein of the transcript.
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def protein_seq
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return Bio::Sequence::NA.new(self.cds_seq).translate.seq
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end
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# The Transcript#coding_region_genomic_start returns the start position
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# of the CDS in genomic coordinates. Note that, in contrast to
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# Transcript#coding_region_cdna_start, the CDS start position is _always_
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# ''left'' of the end position. So for transcripts on the reverse strand,
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# the CDS start position is at the border of the 3'UTR instead of the
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# 5'UTR.
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def coding_region_genomic_start
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strand = self.translation.start_exon.seq_region_strand
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if strand == 1
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return self.translation.start_exon.seq_region_start + ( self.translation.seq_start - 1 )
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else
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return self.translation.end_exon.seq_region_end - ( self.translation.seq_end - 1 )
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end
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end
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# The Transcript#coding_region_genomic_end returns the stop position
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# of the CDS in genomic coordinates. Note that, in contrast to
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# Transcript#coding_region_cdna_end, the CDS stop position is _always_
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# ''right'' of the start position. So for transcripts on the reverse strand,
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# the CDS stop position is at the border of the 5'UTR instead of the
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# 3'UTR.
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def coding_region_genomic_end
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strand = self.translation.start_exon.seq_region_strand
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if strand == 1
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return self.translation.end_exon.seq_region_start + ( self.translation.seq_end - 1 )
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else
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return self.translation.start_exon.seq_region_end - ( self.translation.seq_start - 1 )
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end
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end
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# The Transcript#coding_region_cdna_start returns the start position
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# of the CDS in cDNA coordinates. Note that, in contrast to the
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# Transcript#coding_region_genomic_start, the CDS start position is
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# _always_ at the border of the 5'UTR. So for genes on the reverse
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# strand, the CDS start position in cDNA coordinates will be ''right''
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# of the CDS stop position.
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def coding_region_cdna_start
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answer = 0
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self.exons.each do |exon|
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if exon == self.translation.start_exon
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answer += self.translation.seq_start
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return answer
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else
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answer += exon.length
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end
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end
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end
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# The Transcript#coding_region_cdna_end returns the stop position
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# of the CDS in cDNA coordinates. Note that, in contrast to the
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# Transcript#coding_region_genomic_end, the CDS start position is
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# _always_ at the border of the 3'UTR. So for genes on the reverse
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# strand, the CDS start position in cDNA coordinates will be ''right''
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# of the CDS stop position.
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def coding_region_cdna_end
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answer = 0
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self.exons.each do |exon|
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if exon == self.translation.end_exon
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answer += self.translation.seq_end
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return answer
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else
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answer += exon.length
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end
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end
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end
|
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+
|
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+
|
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|
+
# The Transcript#exon_for_position identifies the exon that covers a given
|
285
|
+
# genomic position. Returns the exon object, or nil if in intron.
|
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|
+
def exon_for_genomic_position(pos)
|
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|
+
if pos < self.seq_region_start or pos > self.seq_region_end
|
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|
+
raise RuntimeError, "Position has to be within transcript"
|
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|
+
end
|
290
|
+
self.exons.each do |exon|
|
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|
+
if exon.start <= pos and exon.stop >= pos
|
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|
+
return exon
|
293
|
+
end
|
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|
+
end
|
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|
+
return nil
|
296
|
+
end
|
297
|
+
|
298
|
+
# The Transcript#exon_for_position identifies the exon that covers a given
|
299
|
+
# position of the cDNA.
|
300
|
+
def exon_for_cdna_position(pos)
|
301
|
+
# FIXME: Still have to check for when pos is outside of scope of cDNA.
|
302
|
+
accumulated_exon_length = 0
|
303
|
+
|
304
|
+
self.exons.each do |exon|
|
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|
+
accumulated_exon_length += exon.length
|
306
|
+
if accumulated_exon_length > pos
|
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|
+
return exon
|
308
|
+
end
|
309
|
+
end
|
310
|
+
raise RuntimeError, "Position outside of cDNA scope"
|
311
|
+
end
|
312
|
+
|
313
|
+
# The Transcript#cdna2genomic method converts cDNA coordinates to
|
314
|
+
# genomic coordinates for this transcript.
|
315
|
+
#
|
316
|
+
# @param [Integer] pos Position on the cDNA
|
317
|
+
# @return [Integer] Position on the genomic DNA
|
318
|
+
def cdna2genomic(pos)
|
319
|
+
#FIXME: Still have to check for when pos is outside of scope of cDNA.
|
320
|
+
# Identify the exon we're looking at.
|
321
|
+
exon_with_target = self.exon_for_cdna_position(pos)
|
322
|
+
|
323
|
+
accumulated_position = 0
|
324
|
+
ex = self.exons.sort_by {|e| e.seq_region_start}
|
325
|
+
ex.reverse! if self.strand == -1
|
326
|
+
ex.each do |exon|
|
327
|
+
if exon == exon_with_target
|
328
|
+
length_to_be_taken_from_exon = pos - (accumulated_position + 1)
|
329
|
+
if self.strand == -1
|
330
|
+
return exon.seq_region_end - length_to_be_taken_from_exon
|
331
|
+
else
|
332
|
+
return exon.seq_region_start + length_to_be_taken_from_exon
|
333
|
+
end
|
334
|
+
else
|
335
|
+
accumulated_position += exon.length
|
336
|
+
end
|
337
|
+
end
|
338
|
+
end
|
339
|
+
|
340
|
+
# The Transcript#cds2genomic method converts CDS coordinates to
|
341
|
+
# genomic coordinates for this transcript.
|
342
|
+
#
|
343
|
+
# @param [Integer] pos Position on the CDS
|
344
|
+
# @return [Integer] Position on the genomic DNA
|
345
|
+
def cds2genomic(pos)
|
346
|
+
return self.cdna2genomic(pos + self.coding_region_cdna_start)
|
347
|
+
end
|
348
|
+
|
349
|
+
# The Transcript#pep2genomic method converts peptide coordinates to
|
350
|
+
# genomic coordinates for this transcript.
|
351
|
+
#
|
352
|
+
# @param [Integer] pos Aminoacid position on the protein
|
353
|
+
# @return [Integer] Position on the genomic DNA
|
354
|
+
def pep2genomic(pos)
|
355
|
+
raise NotImplementedError
|
356
|
+
end
|
357
|
+
|
358
|
+
# The Transcript#genomic2cdna method converts genomic coordinates to
|
359
|
+
# cDNA coordinates for this transcript.
|
360
|
+
#
|
361
|
+
# @param [Integer] pos Position on the genomic DNA
|
362
|
+
# @return [Integer] Position on the cDNA
|
363
|
+
def genomic2cdna(pos)
|
364
|
+
#FIXME: Still have to check for when pos is outside of scope of cDNA.
|
365
|
+
# Identify the exon we're looking at.
|
366
|
+
exon_with_target = self.exon_for_genomic_position(pos)
|
367
|
+
|
368
|
+
accumulated_position = 0
|
369
|
+
ex = self.exons.sort_by {|e| e.seq_region_start}
|
370
|
+
ex.reverse! if self.strand == -1
|
371
|
+
ex.each do |exon|
|
372
|
+
if exon.stable_id == exon_with_target.stable_id
|
373
|
+
if self.strand == 1
|
374
|
+
accumulated_position += ( pos - exon.start) +1
|
375
|
+
else
|
376
|
+
accumulated_position += ( exon.stop - pos ) +1
|
377
|
+
end
|
378
|
+
return accumulated_position
|
379
|
+
else
|
380
|
+
accumulated_position += exon.length
|
381
|
+
end
|
382
|
+
end
|
383
|
+
return RuntimeError, "Position outside of cDNA scope"
|
384
|
+
end
|
385
|
+
|
386
|
+
# The Transcript#genomic2cds method converts genomic coordinates to
|
387
|
+
# CDS coordinates for this transcript.
|
388
|
+
#
|
389
|
+
# @param [Integer] pos Position on the genomic DNA
|
390
|
+
# @return [Integer] Position on the CDS
|
391
|
+
def genomic2cds(pos)
|
392
|
+
return self.genomic2cdna(pos) - self.coding_region_cdna_start
|
393
|
+
end
|
394
|
+
|
395
|
+
# The Transcript#genomic2pep method converts genomic coordinates to
|
396
|
+
# peptide coordinates for this transcript.
|
397
|
+
#
|
398
|
+
# @param [Integer] pos Base position on the genomic DNA
|
399
|
+
# @return [Integer] Aminoacid position in the protein
|
400
|
+
# *Arguments*:
|
401
|
+
# * pos:: position on the chromosome (required)
|
402
|
+
# *Returns*::
|
403
|
+
def genomic2pep(pos)
|
404
|
+
raise NotImplementedError
|
405
|
+
end
|
406
|
+
|
407
|
+
end
|
408
|
+
end
|
409
|
+
end
|
@@ -0,0 +1,95 @@
|
|
1
|
+
#
|
2
|
+
# = bio/api/ensembl/core/transform.rb - transform positions for Ensembl Slice
|
3
|
+
#
|
4
|
+
# Copyright:: Copyright (C) 2007 Jan Aerts <http://jandot.myopenid.com>
|
5
|
+
# License:: The Ruby License
|
6
|
+
#
|
7
|
+
# @author Jan Aerts
|
8
|
+
nil
|
9
|
+
module Ensembl
|
10
|
+
nil
|
11
|
+
module Core
|
12
|
+
nil
|
13
|
+
module Sliceable
|
14
|
+
# The #transform method is used to transfer coordinates for a feature
|
15
|
+
# from one coordinate system to another. It basically creates a clone of
|
16
|
+
# the original feature and changes the seq_region, start position, stop
|
17
|
+
# position and strand.
|
18
|
+
#
|
19
|
+
# Suppose you have a feature on a
|
20
|
+
# contig in human (let's say on contig AC000031.6.1.38703) and you
|
21
|
+
# want to know the coordinates on the chromosome. This is a
|
22
|
+
# transformation of coordinates from a higher ranked coordinate system to
|
23
|
+
# a lower ranked coordinate system. Transformations can also be done
|
24
|
+
# from a chromosome to the contig level.
|
25
|
+
#
|
26
|
+
# In contrast to the #project method of Sliceables, the
|
27
|
+
# coordinates of a feature can only transformed to the target
|
28
|
+
# coordinate system if there is no ambiguity to which SeqRegion.
|
29
|
+
#
|
30
|
+
# For example, gene A can be transferred from the chromosome system to
|
31
|
+
# the clone coordinate system, whereas gene B can not.
|
32
|
+
#
|
33
|
+
# gene A gene B
|
34
|
+
# |---<=====>--------------------<=====>----------------| chromosome
|
35
|
+
#
|
36
|
+
# |-----------| |-------| |---------| clones
|
37
|
+
# |-----------| |-------| |--------|
|
38
|
+
#
|
39
|
+
# gene_a.transform('clone') --> gene
|
40
|
+
# gene_b.transform('clone') --> nil
|
41
|
+
#
|
42
|
+
# At the moment, transformations can only be done if the two coordinate
|
43
|
+
# systems are linked directly in the 'assembly' table.
|
44
|
+
#
|
45
|
+
# @example
|
46
|
+
# # Get a gene in cow and transform to scaffold level
|
47
|
+
# # (i.e. going from a high rank coord system to a lower rank coord
|
48
|
+
# # system)
|
49
|
+
# # Cow scaffold Chr4.10 lies on Chr4 from 8030345 to 10087277 on the
|
50
|
+
# # reverse strand
|
51
|
+
# source_gene = Gene.find(2408)
|
52
|
+
# target_gene = source_gene.transform('scaffold')
|
53
|
+
# puts source_gene.seq_region.name #--> 4
|
54
|
+
# puts source_gene.seq_region_start #--> 8104409
|
55
|
+
# puts source_gene.seq_region_end #--> 8496477
|
56
|
+
# puts source_gene.seq_region_strand #--> -1
|
57
|
+
# puts target_gene.seq_region.name #--> Chr4.003.10
|
58
|
+
# puts target_gene.seq_region_start #--> 1590800
|
59
|
+
# puts target_gene.seq_region_end #--> 1982868
|
60
|
+
# puts target_gene.seq_region_strand #--> 1
|
61
|
+
#
|
62
|
+
# @param [String] coord_system_name Name of the coordinate system to
|
63
|
+
# transform the coordinates to
|
64
|
+
# @return Nil or an object of the same class
|
65
|
+
# as self
|
66
|
+
def transform(coord_system_name)
|
67
|
+
#-
|
68
|
+
# There are two things I can do:
|
69
|
+
# (1) just use project
|
70
|
+
# (2) avoid doing all the calculations in project if the source slice
|
71
|
+
# covers multiple target slices, and _then_ go for project.
|
72
|
+
# Let's go for nr 1 for the moment and optimize later.
|
73
|
+
#+
|
74
|
+
|
75
|
+
if self.slice.seq_region.coord_system.name == coord_system_name
|
76
|
+
return self
|
77
|
+
end
|
78
|
+
|
79
|
+
target_slices = self.slice.project(coord_system_name)
|
80
|
+
if target_slices.length > 1
|
81
|
+
return nil
|
82
|
+
else
|
83
|
+
clone = self.clone
|
84
|
+
clone.seq_region_id = target_slices[0].seq_region.id
|
85
|
+
clone.seq_region_start = target_slices[0].start
|
86
|
+
clone.seq_region_end = target_slices[0].stop
|
87
|
+
|
88
|
+
clone.seq_region_strand = target_slices[0].strand * self.strand
|
89
|
+
|
90
|
+
return clone
|
91
|
+
end
|
92
|
+
end
|
93
|
+
end
|
94
|
+
end
|
95
|
+
end
|