package Bio::EnsEMBL::Variation::Utils::Constants; ##################################################################### # NB: THIS FILE HAS BEEN AUTOMATICALLY GENERATED, EDIT WITH CAUTION # ##################################################################### use strict; use warnings; use base qw(Exporter); our @EXPORT_OK = qw(%OVERLAP_CONSEQUENCES %VARIATION_CLASSES $DEFAULT_OVERLAP_CONSEQUENCE SO_TERM_INDEL SO_TERM_CODING_SEQUENCE_VARIANT SO_TERM_STOP_RETAINED_VARIANT SO_TERM_COMPLEX_STRUCTURAL_ALTERATION SO_TERM_SPLICE_ACCEPTOR_VARIANT SO_TERM_TANDEM_REPEAT SO_TERM_INTERCHROMOSOMAL_BREAKPOINT ATTRIB_TYPE_VARIATION_NAMES SO_TERM_FEATURE_ELONGATION SO_TERM_TRANSCRIPT_ABLATION SO_TERM_TF_BINDING_SITE_VARIANT ATTRIB_TYPE_DISPLAY_TERM SO_TERM_INTRON_VARIANT SO_TERM_STOP_GAINED SO_TERM_SPLICE_DONOR_VARIANT ATTRIB_TYPE_SIFT_PREDICTION SO_TERM_FEATURE_TRUNCATION ATTRIB_TYPE_VARIANCE SO_TERM_INTRACHROMOSOMAL_BREAKPOINT SO_TERM_SPLICE_REGION_VARIANT SO_TERM_TFBS_ABLATION SO_TERM_REGULATORY_REGION_AMPLIFICATION SO_TERM_MISSENSE_VARIANT SO_TERM_SNV ATTRIB_TYPE_EXTERNAL_ID SO_TERM_STRUCTURAL_VARIANT SO_TERM_PROBE ATTRIB_TYPE_LOD_SCORE ATTRIB_TYPE_DBSNP_CLIN_SIG SO_TERM_SEQUENCE_ALTERATION SO_TERM_REGULATORY_REGION_VARIANT SO_TERM_SUBSTITUTION ATTRIB_TYPE_DGVA_CLIN_SIG SO_TERM_INCOMPLETE_TERMINAL_CODON_VARIANT SO_TERM_DUPLICATION SO_TERM_TFBS_AMPLIFICATION SO_TERM_5_PRIME_UTR_VARIANT ATTRIB_TYPE_STRAIN_ID ATTRIB_TYPE_PROT_FUNC_ANALYSIS SO_TERM_TANDEM_DUPLICATION ATTRIB_TYPE_P_VALUE ATTRIB_TYPE_ASSOCIATED_GENE SO_TERM_MOBILE_ELEMENT_INSERTION SO_TERM_MATURE_MIRNA_VARIANT SO_TERM_NC_TRANSCRIPT_VARIANT SO_TERM_DOWNSTREAM_GENE_VARIANT SO_TERM_INFRAME_INSERTION SO_TERM_INSERTION SO_TERM_NMD_TRANSCRIPT_VARIANT ATTRIB_TYPE_SO_TERM ATTRIB_TYPE_SAMPLE_ID SO_TERM_INTERGENIC_VARIANT SO_TERM_NON_CODING_EXON_VARIANT SO_TERM_SYNONYMOUS_VARIANT ATTRIB_TYPE_SHORT_NAME SO_TERM_TRANSLOCATION ATTRIB_TYPE_INHERITANCE_TYPE SO_TERM_COPY_NUMBER_VARIATION ATTRIB_TYPE_POLYPHEN_PREDICTION SO_TERM_REGULATORY_REGION_ABLATION SO_TERM_INVERSION SO_TERM_STOP_LOST ATTRIB_TYPE_RANK SO_TERM_INITIATOR_CODON_VARIANT SO_TERM_3_PRIME_UTR_VARIANT SO_TERM_UPSTREAM_GENE_VARIANT ATTRIB_TYPE_SO_ACCESSION SO_TERM_COPY_NUMBER_LOSS ATTRIB_TYPE_NCBI_TERM SO_TERM_DELETION ATTRIB_TYPE_FEATURE_SO_TERM SO_TERM_FRAMESHIFT_VARIANT SO_TERM_COPY_NUMBER_GAIN ATTRIB_TYPE_RISK_ALLELE SO_TERM_INFRAME_DELETION SO_TERM_TRANSCRIPT_AMPLIFICATION); our %EXPORT_TAGS = ( attrib_types => [qw(ATTRIB_TYPE_RANK ATTRIB_TYPE_EXTERNAL_ID ATTRIB_TYPE_SO_ACCESSION ATTRIB_TYPE_LOD_SCORE ATTRIB_TYPE_DBSNP_CLIN_SIG ATTRIB_TYPE_SO_TERM ATTRIB_TYPE_SAMPLE_ID ATTRIB_TYPE_DGVA_CLIN_SIG ATTRIB_TYPE_VARIATION_NAMES ATTRIB_TYPE_NCBI_TERM ATTRIB_TYPE_FEATURE_SO_TERM ATTRIB_TYPE_SHORT_NAME ATTRIB_TYPE_DISPLAY_TERM ATTRIB_TYPE_RISK_ALLELE ATTRIB_TYPE_INHERITANCE_TYPE ATTRIB_TYPE_PROT_FUNC_ANALYSIS ATTRIB_TYPE_STRAIN_ID ATTRIB_TYPE_SIFT_PREDICTION ATTRIB_TYPE_P_VALUE ATTRIB_TYPE_VARIANCE ATTRIB_TYPE_POLYPHEN_PREDICTION ATTRIB_TYPE_ASSOCIATED_GENE)], SO_consequence_terms => [qw(SO_TERM_NC_TRANSCRIPT_VARIANT SO_TERM_DOWNSTREAM_GENE_VARIANT SO_TERM_CODING_SEQUENCE_VARIANT SO_TERM_STOP_RETAINED_VARIANT SO_TERM_INFRAME_INSERTION SO_TERM_NMD_TRANSCRIPT_VARIANT SO_TERM_SPLICE_ACCEPTOR_VARIANT SO_TERM_INTERGENIC_VARIANT SO_TERM_FEATURE_ELONGATION SO_TERM_NON_CODING_EXON_VARIANT SO_TERM_TRANSCRIPT_ABLATION SO_TERM_SYNONYMOUS_VARIANT SO_TERM_TF_BINDING_SITE_VARIANT SO_TERM_INTRON_VARIANT SO_TERM_STOP_GAINED SO_TERM_SPLICE_DONOR_VARIANT SO_TERM_FEATURE_TRUNCATION SO_TERM_REGULATORY_REGION_ABLATION SO_TERM_TFBS_ABLATION SO_TERM_SPLICE_REGION_VARIANT SO_TERM_STOP_LOST SO_TERM_INITIATOR_CODON_VARIANT SO_TERM_3_PRIME_UTR_VARIANT SO_TERM_REGULATORY_REGION_AMPLIFICATION SO_TERM_UPSTREAM_GENE_VARIANT SO_TERM_MISSENSE_VARIANT SO_TERM_REGULATORY_REGION_VARIANT SO_TERM_INCOMPLETE_TERMINAL_CODON_VARIANT SO_TERM_FRAMESHIFT_VARIANT SO_TERM_TFBS_AMPLIFICATION SO_TERM_5_PRIME_UTR_VARIANT SO_TERM_INFRAME_DELETION SO_TERM_TRANSCRIPT_AMPLIFICATION SO_TERM_MATURE_MIRNA_VARIANT)], SO_class_terms => [qw(SO_TERM_INDEL SO_TERM_SNV SO_TERM_STRUCTURAL_VARIANT SO_TERM_COMPLEX_STRUCTURAL_ALTERATION SO_TERM_INSERTION SO_TERM_PROBE SO_TERM_COPY_NUMBER_LOSS SO_TERM_SEQUENCE_ALTERATION SO_TERM_TANDEM_REPEAT SO_TERM_INTERCHROMOSOMAL_BREAKPOINT SO_TERM_SUBSTITUTION SO_TERM_DELETION SO_TERM_COPY_NUMBER_GAIN SO_TERM_DUPLICATION SO_TERM_TRANSLOCATION SO_TERM_COPY_NUMBER_VARIATION SO_TERM_TANDEM_DUPLICATION SO_TERM_INVERSION SO_TERM_INTRACHROMOSOMAL_BREAKPOINT SO_TERM_MOBILE_ELEMENT_INSERTION)], ); use Bio::EnsEMBL::Variation::OverlapConsequence; use constant ATTRIB_TYPE_SO_ACCESSION => 'SO_accession'; use constant ATTRIB_TYPE_SO_TERM => 'SO_term'; use constant ATTRIB_TYPE_DISPLAY_TERM => 'display_term'; use constant ATTRIB_TYPE_NCBI_TERM => 'NCBI_term'; use constant ATTRIB_TYPE_FEATURE_SO_TERM => 'feature_SO_term'; use constant ATTRIB_TYPE_RANK => 'rank'; use constant ATTRIB_TYPE_POLYPHEN_PREDICTION => 'polyphen_prediction'; use constant ATTRIB_TYPE_SIFT_PREDICTION => 'sift_prediction'; use constant ATTRIB_TYPE_SHORT_NAME => 'short_name'; use constant ATTRIB_TYPE_DBSNP_CLIN_SIG => 'dbsnp_clin_sig'; use constant ATTRIB_TYPE_DGVA_CLIN_SIG => 'dgva_clin_sig'; use constant ATTRIB_TYPE_PROT_FUNC_ANALYSIS => 'prot_func_analysis'; use constant ATTRIB_TYPE_ASSOCIATED_GENE => 'associated_gene'; use constant ATTRIB_TYPE_RISK_ALLELE => 'risk_allele'; use constant ATTRIB_TYPE_P_VALUE => 'p_value'; use constant ATTRIB_TYPE_VARIATION_NAMES => 'variation_names'; use constant ATTRIB_TYPE_SAMPLE_ID => 'sample_id'; use constant ATTRIB_TYPE_STRAIN_ID => 'strain_id'; use constant ATTRIB_TYPE_LOD_SCORE => 'lod_score'; use constant ATTRIB_TYPE_VARIANCE => 'variance'; use constant ATTRIB_TYPE_INHERITANCE_TYPE => 'inheritance_type'; use constant ATTRIB_TYPE_EXTERNAL_ID => 'external_id'; use constant SO_TERM_SNV => 'SNV'; use constant SO_TERM_SUBSTITUTION => 'substitution'; use constant SO_TERM_COPY_NUMBER_VARIATION => 'copy_number_variation'; use constant SO_TERM_INSERTION => 'insertion'; use constant SO_TERM_DELETION => 'deletion'; use constant SO_TERM_INDEL => 'indel'; use constant SO_TERM_TANDEM_REPEAT => 'tandem_repeat'; use constant SO_TERM_SEQUENCE_ALTERATION => 'sequence_alteration'; use constant SO_TERM_STRUCTURAL_VARIANT => 'structural_variant'; use constant SO_TERM_PROBE => 'probe'; use constant SO_TERM_COPY_NUMBER_GAIN => 'copy_number_gain'; use constant SO_TERM_COPY_NUMBER_LOSS => 'copy_number_loss'; use constant SO_TERM_INVERSION => 'inversion'; use constant SO_TERM_COMPLEX_STRUCTURAL_ALTERATION => 'complex_structural_alteration'; use constant SO_TERM_TANDEM_DUPLICATION => 'tandem_duplication'; use constant SO_TERM_MOBILE_ELEMENT_INSERTION => 'mobile_element_insertion'; use constant SO_TERM_INTERCHROMOSOMAL_BREAKPOINT => 'interchromosomal_breakpoint'; use constant SO_TERM_INTRACHROMOSOMAL_BREAKPOINT => 'intrachromosomal_breakpoint'; use constant SO_TERM_TRANSLOCATION => 'translocation'; use constant SO_TERM_DUPLICATION => 'duplication'; use constant SO_TERM_INTERGENIC_VARIANT => 'intergenic_variant'; use constant SO_TERM_UPSTREAM_GENE_VARIANT => 'upstream_gene_variant'; use constant SO_TERM_DOWNSTREAM_GENE_VARIANT => 'downstream_gene_variant'; use constant SO_TERM_SPLICE_DONOR_VARIANT => 'splice_donor_variant'; use constant SO_TERM_SPLICE_ACCEPTOR_VARIANT => 'splice_acceptor_variant'; use constant SO_TERM_SPLICE_REGION_VARIANT => 'splice_region_variant'; use constant SO_TERM_INTRON_VARIANT => 'intron_variant'; use constant SO_TERM_5_PRIME_UTR_VARIANT => '5_prime_UTR_variant'; use constant SO_TERM_3_PRIME_UTR_VARIANT => '3_prime_UTR_variant'; use constant SO_TERM_SYNONYMOUS_VARIANT => 'synonymous_variant'; use constant SO_TERM_MISSENSE_VARIANT => 'missense_variant'; use constant SO_TERM_INFRAME_INSERTION => 'inframe_insertion'; use constant SO_TERM_INFRAME_DELETION => 'inframe_deletion'; use constant SO_TERM_STOP_GAINED => 'stop_gained'; use constant SO_TERM_STOP_LOST => 'stop_lost'; use constant SO_TERM_STOP_RETAINED_VARIANT => 'stop_retained_variant'; use constant SO_TERM_INITIATOR_CODON_VARIANT => 'initiator_codon_variant'; use constant SO_TERM_FRAMESHIFT_VARIANT => 'frameshift_variant'; use constant SO_TERM_INCOMPLETE_TERMINAL_CODON_VARIANT => 'incomplete_terminal_codon_variant'; use constant SO_TERM_NMD_TRANSCRIPT_VARIANT => 'NMD_transcript_variant'; use constant SO_TERM_NC_TRANSCRIPT_VARIANT => 'nc_transcript_variant'; use constant SO_TERM_NON_CODING_EXON_VARIANT => 'non_coding_exon_variant'; use constant SO_TERM_MATURE_MIRNA_VARIANT => 'mature_miRNA_variant'; use constant SO_TERM_CODING_SEQUENCE_VARIANT => 'coding_sequence_variant'; use constant SO_TERM_REGULATORY_REGION_VARIANT => 'regulatory_region_variant'; use constant SO_TERM_TF_BINDING_SITE_VARIANT => 'TF_binding_site_variant'; use constant SO_TERM_TRANSCRIPT_ABLATION => 'transcript_ablation'; use constant SO_TERM_TRANSCRIPT_AMPLIFICATION => 'transcript_amplification'; use constant SO_TERM_TFBS_ABLATION => 'TFBS_ablation'; use constant SO_TERM_TFBS_AMPLIFICATION => 'TFBS_amplification'; use constant SO_TERM_REGULATORY_REGION_ABLATION => 'regulatory_region_ablation'; use constant SO_TERM_REGULATORY_REGION_AMPLIFICATION => 'regulatory_region_amplification'; use constant SO_TERM_FEATURE_ELONGATION => 'feature_elongation'; use constant SO_TERM_FEATURE_TRUNCATION => 'feature_truncation'; our %VARIATION_CLASSES = ( 'SNV' => { 'somatic_display_term' => 'somatic_SNV', 'SO_accession' => 'SO:0001483', 'display_term' => 'SNP' } , 'substitution' => { 'somatic_display_term' => 'somatic_substitution', 'SO_accession' => 'SO:1000002', 'display_term' => 'substitution' } , 'copy_number_variation' => { 'somatic_display_term' => 'somatic_CNV', 'SO_accession' => 'SO:0001019', 'display_term' => 'CNV' } , 'insertion' => { 'somatic_display_term' => 'somatic_insertion', 'SO_accession' => 'SO:0000667', 'display_term' => 'insertion' } , 'deletion' => { 'somatic_display_term' => 'somatic_deletion', 'SO_accession' => 'SO:0000159', 'display_term' => 'deletion' } , 'indel' => { 'somatic_display_term' => 'somatic_indel', 'SO_accession' => 'SO:1000032', 'display_term' => 'indel' } , 'tandem_repeat' => { 'somatic_display_term' => 'somatic_tandem_repeat', 'SO_accession' => 'SO:0000705', 'display_term' => 'tandem_repeat' } , 'sequence_alteration' => { 'somatic_display_term' => 'somatic_sequence_alteration', 'SO_accession' => 'SO:0001059', 'display_term' => 'sequence_alteration' } , 'structural_variant' => { 'somatic_display_term' => 'somatic_SV', 'SO_accession' => 'SO:0001537', 'display_term' => 'SV' } , 'probe' => { 'somatic_display_term' => 'somatic_CNV_PROBE', 'SO_accession' => 'SO:0000051', 'display_term' => 'CNV_PROBE' } , 'copy_number_gain' => { 'somatic_display_term' => 'somatic_Gain', 'SO_accession' => 'SO:0001742', 'display_term' => 'Gain' } , 'copy_number_loss' => { 'somatic_display_term' => 'somatic_Loss', 'SO_accession' => 'SO:0001743', 'display_term' => 'Loss' } , 'inversion' => { 'somatic_display_term' => 'somatic_inversion', 'SO_accession' => 'SO:1000036', 'display_term' => 'inversion' } , 'complex_structural_alteration' => { 'somatic_display_term' => 'somatic_Complex', 'SO_accession' => 'SO:0001784', 'display_term' => 'Complex' } , 'tandem_duplication' => { 'somatic_display_term' => 'somatic_Tandem duplication', 'SO_accession' => 'SO:1000173', 'display_term' => 'Tandem duplication' } , 'mobile_element_insertion' => { 'somatic_display_term' => 'somatic_Mobile element insertion', 'SO_accession' => 'SO:0001837', 'display_term' => 'Mobile element insertion' } , 'interchromosomal_breakpoint' => { 'somatic_display_term' => 'somatic_Interchromosomal breakpoint', 'SO_accession' => 'SO:0001873', 'display_term' => 'Interchromosomal breakpoint' } , 'intrachromosomal_breakpoint' => { 'somatic_display_term' => 'somatic_Intrachromosomal breakpoint', 'SO_accession' => 'SO:0001874', 'display_term' => 'Intrachromosomal breakpoint' } , 'translocation' => { 'somatic_display_term' => 'somatic_translocation', 'SO_accession' => 'SO:0000199', 'display_term' => 'translocation' } , 'duplication' => { 'somatic_display_term' => 'somatic_Duplication', 'SO_accession' => 'SO:1000035', 'display_term' => 'Duplication' } , ); our $DEFAULT_OVERLAP_CONSEQUENCE = Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'tier' => '4', 'SO_term' => 'intergenic_variant', 'is_default' => 1, 'label' => 'Intergenic variant', 'description' => 'A sequence variant located in the intergenic region, between genes', 'rank' => '38', 'SO_accession' => 'SO:0001628', 'display_term' => 'INTERGENIC' } ); our %OVERLAP_CONSEQUENCES = ( 'intergenic_variant' => $DEFAULT_OVERLAP_CONSEQUENCE, 'upstream_gene_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'transcript', 'description' => 'A sequence variant located 5\' of a gene', 'SO_accession' => 'SO:0001631', 'SO_term' => 'upstream_gene_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::upstream', 'label' => 'Upstream gene variant', 'rank' => '24', 'display_term' => 'UPSTREAM', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'downstream_gene_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'transcript', 'description' => 'A sequence variant located 3\' of a gene', 'SO_accession' => 'SO:0001632', 'SO_term' => 'downstream_gene_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::downstream', 'label' => 'Downstream gene variant', 'rank' => '25', 'display_term' => 'DOWNSTREAM', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'splice_donor_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', 'NCBI_term' => 'splice-5', 'feature_SO_term' => 'primary_transcript', 'description' => 'A splice variant that changes the 2 base region at the 5\' end of an intron', 'SO_accession' => 'SO:0001575', 'tier' => '3', 'SO_term' => 'splice_donor_variant', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::donor_splice_site', 'label' => 'Splice donor variant', 'rank' => '3', 'display_term' => 'ESSENTIAL_SPLICE_SITE', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'splice_acceptor_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', 'NCBI_term' => 'splice-3', 'feature_SO_term' => 'primary_transcript', 'description' => 'A splice variant that changes the 2 base region at the 3\' end of an intron', 'SO_accession' => 'SO:0001574', 'tier' => '3', 'SO_term' => 'splice_acceptor_variant', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::acceptor_splice_site', 'label' => 'Splice acceptor variant', 'rank' => '3', 'display_term' => 'ESSENTIAL_SPLICE_SITE', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'splice_region_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', 'feature_SO_term' => 'primary_transcript', 'description' => 'A sequence variant in which a change has occurred within the region of the splice site, either within 1-3 bases of the exon or 3-8 bases of the intron', 'SO_accession' => 'SO:0001630', 'SO_term' => 'splice_region_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::splice_region', 'label' => 'Splice region variant', 'rank' => '13', 'display_term' => 'SPLICE_SITE', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'intron_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'NCBI_term' => 'intron', 'feature_SO_term' => 'primary_transcript', 'description' => 'A transcript variant occurring within an intron', 'SO_accession' => 'SO:0001627', 'tier' => '3', 'SO_term' => 'intron_variant', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_intron', 'label' => 'Intron variant', 'rank' => '21', 'display_term' => 'INTRONIC', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), '5_prime_UTR_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'NCBI_term' => 'untranslated_5', 'feature_SO_term' => 'mRNA', 'description' => 'A UTR variant of the 5\' UTR', 'SO_accession' => 'SO:0001623', 'tier' => '3', 'SO_term' => '5_prime_UTR_variant', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_5_prime_utr', 'label' => '5 prime UTR variant', 'rank' => '18', 'display_term' => '5PRIME_UTR', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), '3_prime_UTR_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'NCBI_term' => 'untranslated_3', 'feature_SO_term' => 'mRNA', 'description' => 'A UTR variant of the 3\' UTR', 'SO_accession' => 'SO:0001624', 'tier' => '3', 'SO_term' => '3_prime_UTR_variant', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_3_prime_utr', 'label' => '3 prime UTR variant', 'rank' => '19', 'display_term' => '3PRIME_UTR', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'synonymous_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', 'NCBI_term' => 'cds-synon', 'feature_SO_term' => 'mRNA', 'description' => 'A sequence variant where there is no resulting change to the encoded amino acid', 'SO_accession' => 'SO:0001819', 'tier' => '3', 'SO_term' => 'synonymous_variant', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::synonymous_variant', 'label' => 'Synonymous variant', 'rank' => '15', 'display_term' => 'SYNONYMOUS_CODING', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'missense_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', 'NCBI_term' => 'missense', 'feature_SO_term' => 'mRNA', 'description' => 'A sequence variant, that changes one or more bases, resulting in a different amino acid sequence but where the length is preserved', 'SO_accession' => 'SO:0001583', 'tier' => '3', 'SO_term' => 'missense_variant', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::missense_variant', 'label' => 'Missense variant', 'rank' => '12', 'display_term' => 'NON_SYNONYMOUS_CODING', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'inframe_insertion' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'An inframe non synonymous variant that inserts bases into in the coding sequence', 'SO_accession' => 'SO:0001821', 'SO_term' => 'inframe_insertion', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::inframe_insertion', 'label' => 'Inframe insertion', 'rank' => '10', 'display_term' => 'NON_SYNONYMOUS_CODING', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'inframe_deletion' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'An inframe non synonymous variant that deletes bases from the coding sequence', 'SO_accession' => 'SO:0001822', 'SO_term' => 'inframe_deletion', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::inframe_deletion', 'label' => 'Inframe deletion', 'rank' => '11', 'display_term' => 'NON_SYNONYMOUS_CODING', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'stop_gained' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', 'NCBI_term' => 'nonsense', 'feature_SO_term' => 'mRNA', 'description' => 'A sequence variant whereby at least one base of a codon is changed, resulting in a premature stop codon, leading to a shortened transcript', 'SO_accession' => 'SO:0001587', 'tier' => '3', 'SO_term' => 'stop_gained', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::stop_gained', 'label' => 'Stop gained', 'rank' => '4', 'display_term' => 'STOP_GAINED', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'stop_lost' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript', 'SO_accession' => 'SO:0001578', 'SO_term' => 'stop_lost', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::stop_lost', 'label' => 'Stop lost', 'rank' => '6', 'display_term' => 'STOP_LOST', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'stop_retained_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'A sequence variant where at least one base in the terminator codon is changed, but the terminator remains', 'SO_accession' => 'SO:0001567', 'SO_term' => 'stop_retained_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::stop_retained', 'label' => 'Stop retained variant', 'rank' => '15', 'display_term' => 'SYNONYMOUS_CODING', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'initiator_codon_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'A codon variant that changes at least one base of the first codon of a transcript', 'SO_accession' => 'SO:0001582', 'SO_term' => 'initiator_codon_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::affects_start_codon', 'label' => 'Initiator codon variant', 'rank' => '7', 'display_term' => 'NON_SYNONYMOUS_CODING', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'frameshift_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'NCBI_term' => 'frameshift', 'feature_SO_term' => 'mRNA', 'description' => 'A sequence variant which causes a disruption of the translational reading frame, because the number of nucleotides inserted or deleted is not a multiple of three', 'SO_accession' => 'SO:0001589', 'tier' => '3', 'SO_term' => 'frameshift_variant', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::frameshift', 'label' => 'Frameshift variant', 'rank' => '5', 'display_term' => 'FRAMESHIFT_CODING', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'incomplete_terminal_codon_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'A sequence variant where at least one base of the final codon of an incompletely annotated transcript is changed', 'SO_accession' => 'SO:0001626', 'SO_term' => 'incomplete_terminal_codon_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::partial_codon', 'label' => 'Incomplete terminal codon variant', 'rank' => '14', 'display_term' => 'PARTIAL_CODON', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'NMD_transcript_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'A variant in a transcript that is the target of NMD', 'SO_accession' => 'SO:0001621', 'SO_term' => 'NMD_transcript_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_nmd_transcript', 'label' => 'NMD transcript variant', 'rank' => '22', 'display_term' => 'NMD_TRANSCRIPT', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'nc_transcript_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'ncRNA', 'description' => 'A transcript variant of a non coding RNA', 'SO_accession' => 'SO:0001619', 'SO_term' => 'nc_transcript_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_non_coding_gene', 'label' => 'NC transcript variant', 'rank' => '23', 'display_term' => 'WITHIN_NON_CODING_GENE', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'non_coding_exon_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'ncRNA', 'description' => 'A sequence variant that changes non-coding exon sequence', 'SO_accession' => 'SO:0001792', 'SO_term' => 'non_coding_exon_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::non_coding_exon_variant', 'label' => 'Non coding exon variant', 'rank' => '20', 'display_term' => 'WITHIN_NON_CODING_GENE', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'mature_miRNA_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'miRNA', 'description' => 'A transcript variant located with the sequence of the mature miRNA', 'SO_accession' => 'SO:0001620', 'SO_term' => 'mature_miRNA_variant', 'tier' => '2', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_mature_miRNA', 'label' => 'Mature miRNA variant', 'rank' => '17', 'display_term' => 'WITHIN_MATURE_miRNA', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'coding_sequence_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'A sequence variant that changes the coding sequence', 'SO_accession' => 'SO:0001580', 'SO_term' => 'coding_sequence_variant', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::coding_unknown', 'label' => 'Coding sequence variant', 'rank' => '16', 'display_term' => 'CODING_UNKNOWN', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'regulatory_region_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'regulatory_region', 'description' => 'A sequence variant located within a regulatory region', 'SO_accession' => 'SO:0001566', 'SO_term' => 'regulatory_region_variant', 'tier' => '2', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_regulatory_feature', 'label' => 'Regulatory region variant', 'rank' => '36', 'display_term' => 'REGULATORY_REGION', 'feature_class' => 'Bio::EnsEMBL::Funcgen::RegulatoryFeature' } ), 'TF_binding_site_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'TF_binding_site', 'description' => 'A sequence variant located within a transcription factor binding site', 'SO_accession' => 'SO:0001782', 'SO_term' => 'TF_binding_site_variant', 'tier' => '2', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_motif_feature', 'label' => 'TF binding site', 'rank' => '30', 'display_term' => 'REGULATORY_REGION', 'feature_class' => 'Bio::EnsEMBL::Funcgen::MotifFeature' } ), 'transcript_ablation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'A feature ablation whereby the deleted region includes a transcript feature', 'SO_accession' => 'SO:0001893', 'SO_term' => 'transcript_ablation', 'tier' => '1', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_ablation', 'label' => 'Transcript ablation', 'rank' => '1', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'transcript_amplification' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'mRNA', 'description' => 'A feature amplification of a region containing a transcript', 'SO_accession' => 'SO:0001889', 'SO_term' => 'transcript_amplification', 'tier' => '1', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_amplification', 'label' => 'Transcript amplification', 'rank' => '8', 'feature_class' => 'Bio::EnsEMBL::Transcript' } ), 'TFBS_ablation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'TF_binding_site', 'description' => 'A feature ablation whereby the deleted region includes a transcription factor binding site', 'SO_accession' => 'SO:0001895', 'SO_term' => 'TFBS_ablation', 'tier' => '2', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_ablation', 'label' => 'TFBS ablation', 'rank' => '26', 'feature_class' => 'Bio::EnsEMBL::Funcgen::MotifFeature' } ), 'TFBS_amplification' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'TF_binding_site', 'description' => 'A feature amplification of a region containing a transcription factor binding site', 'SO_accession' => 'SO:0001892', 'SO_term' => 'TFBS_amplification', 'tier' => '2', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_amplification', 'label' => 'TFBS amplification', 'rank' => '28', 'feature_class' => 'Bio::EnsEMBL::Funcgen::MotifFeature' } ), 'regulatory_region_ablation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'TF_binding_site', 'description' => 'A feature ablation whereby the deleted region includes a regulatory region', 'SO_accession' => 'SO:0001894', 'SO_term' => 'regulatory_region_ablation', 'tier' => '2', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_ablation', 'label' => 'Regulatory region ablation', 'rank' => '31', 'feature_class' => 'Bio::EnsEMBL::Funcgen::RegulatoryFeature' } ), 'regulatory_region_amplification' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'TF_binding_site', 'description' => 'A feature amplification of a region containing a regulatory region', 'SO_accession' => 'SO:0001891', 'SO_term' => 'regulatory_region_amplification', 'tier' => '2', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_amplification', 'label' => 'Regulatory region amplification', 'rank' => '33', 'feature_class' => 'Bio::EnsEMBL::Funcgen::RegulatoryFeature' } ), 'feature_elongation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'sequence_feature', 'description' => 'A sequence variant that causes the extension of a genomic feature, with regard to the reference sequence', 'SO_accession' => 'SO:0001907', 'SO_term' => 'feature_elongation', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_elongation', 'label' => 'Feature elongation', 'rank' => '36', 'feature_class' => 'Bio::EnsEMBL::Feature' } ), 'feature_truncation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', 'feature_SO_term' => 'sequence_feature', 'description' => 'A sequence variant that causes the reduction of a genomic feature, with regard to the reference sequence', 'SO_accession' => 'SO:0001906', 'SO_term' => 'feature_truncation', 'tier' => '3', 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_truncation', 'label' => 'Feature truncation', 'rank' => '37', 'feature_class' => 'Bio::EnsEMBL::Feature' } ), ); 1;