Mercurial > repos > mahtabm > ensembl
comparison variant_effect_predictor/Bio/EnsEMBL/Variation/Utils/Constants.pm @ 0:1f6dce3d34e0
Uploaded
author | mahtabm |
---|---|
date | Thu, 11 Apr 2013 02:01:53 -0400 |
parents | |
children |
comparison
equal
deleted
inserted
replaced
-1:000000000000 | 0:1f6dce3d34e0 |
---|---|
1 package Bio::EnsEMBL::Variation::Utils::Constants; | |
2 | |
3 ##################################################################### | |
4 # NB: THIS FILE HAS BEEN AUTOMATICALLY GENERATED, EDIT WITH CAUTION # | |
5 ##################################################################### | |
6 | |
7 use strict; | |
8 use warnings; | |
9 | |
10 use base qw(Exporter); | |
11 | |
12 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 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 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 SO_TERM_STRUCTURAL_VARIANT SO_TERM_PROBE 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_PROT_FUNC_ANALYSIS SO_TERM_TANDEM_DUPLICATION 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 SO_TERM_INTERGENIC_VARIANT SO_TERM_NON_CODING_EXON_VARIANT SO_TERM_SYNONYMOUS_VARIANT ATTRIB_TYPE_SHORT_NAME SO_TERM_TRANSLOCATION 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 SO_TERM_INFRAME_DELETION SO_TERM_TRANSCRIPT_AMPLIFICATION); | |
13 | |
14 our %EXPORT_TAGS = ( attrib_types => [qw(ATTRIB_TYPE_RANK ATTRIB_TYPE_NCBI_TERM ATTRIB_TYPE_SHORT_NAME ATTRIB_TYPE_FEATURE_SO_TERM ATTRIB_TYPE_DISPLAY_TERM ATTRIB_TYPE_SO_ACCESSION ATTRIB_TYPE_DBSNP_CLIN_SIG ATTRIB_TYPE_PROT_FUNC_ANALYSIS ATTRIB_TYPE_SO_TERM ATTRIB_TYPE_SIFT_PREDICTION ATTRIB_TYPE_POLYPHEN_PREDICTION ATTRIB_TYPE_DGVA_CLIN_SIG)], 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)], ); | |
15 | |
16 use Bio::EnsEMBL::Variation::OverlapConsequence; | |
17 | |
18 use constant ATTRIB_TYPE_SO_ACCESSION => 'SO_accession'; | |
19 use constant ATTRIB_TYPE_SO_TERM => 'SO_term'; | |
20 use constant ATTRIB_TYPE_DISPLAY_TERM => 'display_term'; | |
21 use constant ATTRIB_TYPE_NCBI_TERM => 'NCBI_term'; | |
22 use constant ATTRIB_TYPE_FEATURE_SO_TERM => 'feature_SO_term'; | |
23 use constant ATTRIB_TYPE_RANK => 'rank'; | |
24 use constant ATTRIB_TYPE_POLYPHEN_PREDICTION => 'polyphen_prediction'; | |
25 use constant ATTRIB_TYPE_SIFT_PREDICTION => 'sift_prediction'; | |
26 use constant ATTRIB_TYPE_SHORT_NAME => 'short_name'; | |
27 use constant ATTRIB_TYPE_DBSNP_CLIN_SIG => 'dbsnp_clin_sig'; | |
28 use constant ATTRIB_TYPE_DGVA_CLIN_SIG => 'dgva_clin_sig'; | |
29 use constant ATTRIB_TYPE_PROT_FUNC_ANALYSIS => 'prot_func_analysis'; | |
30 | |
31 use constant SO_TERM_SNV => 'SNV'; | |
32 use constant SO_TERM_SUBSTITUTION => 'substitution'; | |
33 use constant SO_TERM_COPY_NUMBER_VARIATION => 'copy_number_variation'; | |
34 use constant SO_TERM_INSERTION => 'insertion'; | |
35 use constant SO_TERM_DELETION => 'deletion'; | |
36 use constant SO_TERM_INDEL => 'indel'; | |
37 use constant SO_TERM_TANDEM_REPEAT => 'tandem_repeat'; | |
38 use constant SO_TERM_SEQUENCE_ALTERATION => 'sequence_alteration'; | |
39 use constant SO_TERM_STRUCTURAL_VARIANT => 'structural_variant'; | |
40 use constant SO_TERM_PROBE => 'probe'; | |
41 use constant SO_TERM_COPY_NUMBER_GAIN => 'copy_number_gain'; | |
42 use constant SO_TERM_COPY_NUMBER_LOSS => 'copy_number_loss'; | |
43 use constant SO_TERM_INVERSION => 'inversion'; | |
44 use constant SO_TERM_COMPLEX_STRUCTURAL_ALTERATION => 'complex_structural_alteration'; | |
45 use constant SO_TERM_TANDEM_DUPLICATION => 'tandem_duplication'; | |
46 use constant SO_TERM_MOBILE_ELEMENT_INSERTION => 'mobile_element_insertion'; | |
47 use constant SO_TERM_INTERCHROMOSOMAL_BREAKPOINT => 'interchromosomal_breakpoint'; | |
48 use constant SO_TERM_INTRACHROMOSOMAL_BREAKPOINT => 'intrachromosomal_breakpoint'; | |
49 use constant SO_TERM_TRANSLOCATION => 'translocation'; | |
50 use constant SO_TERM_DUPLICATION => 'duplication'; | |
51 use constant SO_TERM_INTERGENIC_VARIANT => 'intergenic_variant'; | |
52 use constant SO_TERM_UPSTREAM_GENE_VARIANT => 'upstream_gene_variant'; | |
53 use constant SO_TERM_DOWNSTREAM_GENE_VARIANT => 'downstream_gene_variant'; | |
54 use constant SO_TERM_SPLICE_DONOR_VARIANT => 'splice_donor_variant'; | |
55 use constant SO_TERM_SPLICE_ACCEPTOR_VARIANT => 'splice_acceptor_variant'; | |
56 use constant SO_TERM_SPLICE_REGION_VARIANT => 'splice_region_variant'; | |
57 use constant SO_TERM_INTRON_VARIANT => 'intron_variant'; | |
58 use constant SO_TERM_5_PRIME_UTR_VARIANT => '5_prime_UTR_variant'; | |
59 use constant SO_TERM_3_PRIME_UTR_VARIANT => '3_prime_UTR_variant'; | |
60 use constant SO_TERM_SYNONYMOUS_VARIANT => 'synonymous_variant'; | |
61 use constant SO_TERM_MISSENSE_VARIANT => 'missense_variant'; | |
62 use constant SO_TERM_INFRAME_INSERTION => 'inframe_insertion'; | |
63 use constant SO_TERM_INFRAME_DELETION => 'inframe_deletion'; | |
64 use constant SO_TERM_STOP_GAINED => 'stop_gained'; | |
65 use constant SO_TERM_STOP_LOST => 'stop_lost'; | |
66 use constant SO_TERM_STOP_RETAINED_VARIANT => 'stop_retained_variant'; | |
67 use constant SO_TERM_INITIATOR_CODON_VARIANT => 'initiator_codon_variant'; | |
68 use constant SO_TERM_FRAMESHIFT_VARIANT => 'frameshift_variant'; | |
69 use constant SO_TERM_INCOMPLETE_TERMINAL_CODON_VARIANT => 'incomplete_terminal_codon_variant'; | |
70 use constant SO_TERM_NMD_TRANSCRIPT_VARIANT => 'NMD_transcript_variant'; | |
71 use constant SO_TERM_NC_TRANSCRIPT_VARIANT => 'nc_transcript_variant'; | |
72 use constant SO_TERM_NON_CODING_EXON_VARIANT => 'non_coding_exon_variant'; | |
73 use constant SO_TERM_MATURE_MIRNA_VARIANT => 'mature_miRNA_variant'; | |
74 use constant SO_TERM_CODING_SEQUENCE_VARIANT => 'coding_sequence_variant'; | |
75 use constant SO_TERM_REGULATORY_REGION_VARIANT => 'regulatory_region_variant'; | |
76 use constant SO_TERM_TF_BINDING_SITE_VARIANT => 'TF_binding_site_variant'; | |
77 use constant SO_TERM_TRANSCRIPT_ABLATION => 'transcript_ablation'; | |
78 use constant SO_TERM_TRANSCRIPT_AMPLIFICATION => 'transcript_amplification'; | |
79 use constant SO_TERM_TFBS_ABLATION => 'TFBS_ablation'; | |
80 use constant SO_TERM_TFBS_AMPLIFICATION => 'TFBS_amplification'; | |
81 use constant SO_TERM_REGULATORY_REGION_ABLATION => 'regulatory_region_ablation'; | |
82 use constant SO_TERM_REGULATORY_REGION_AMPLIFICATION => 'regulatory_region_amplification'; | |
83 use constant SO_TERM_FEATURE_ELONGATION => 'feature_elongation'; | |
84 use constant SO_TERM_FEATURE_TRUNCATION => 'feature_truncation'; | |
85 | |
86 our %VARIATION_CLASSES = ( | |
87 'SNV' => { | |
88 'somatic_display_term' => 'somatic_SNV', | |
89 'SO_accession' => 'SO:0001483', | |
90 'display_term' => 'SNP' | |
91 } | |
92 , | |
93 'substitution' => { | |
94 'somatic_display_term' => 'somatic_substitution', | |
95 'SO_accession' => 'SO:1000002', | |
96 'display_term' => 'substitution' | |
97 } | |
98 , | |
99 'copy_number_variation' => { | |
100 'somatic_display_term' => 'somatic_CNV', | |
101 'SO_accession' => 'SO:0001019', | |
102 'display_term' => 'CNV' | |
103 } | |
104 , | |
105 'insertion' => { | |
106 'somatic_display_term' => 'somatic_insertion', | |
107 'SO_accession' => 'SO:0000667', | |
108 'display_term' => 'insertion' | |
109 } | |
110 , | |
111 'deletion' => { | |
112 'somatic_display_term' => 'somatic_deletion', | |
113 'SO_accession' => 'SO:0000159', | |
114 'display_term' => 'deletion' | |
115 } | |
116 , | |
117 'indel' => { | |
118 'somatic_display_term' => 'somatic_indel', | |
119 'SO_accession' => 'SO:1000032', | |
120 'display_term' => 'indel' | |
121 } | |
122 , | |
123 'tandem_repeat' => { | |
124 'somatic_display_term' => 'somatic_tandem_repeat', | |
125 'SO_accession' => 'SO:0000705', | |
126 'display_term' => 'tandem_repeat' | |
127 } | |
128 , | |
129 'sequence_alteration' => { | |
130 'somatic_display_term' => 'somatic_sequence_alteration', | |
131 'SO_accession' => 'SO:0001059', | |
132 'display_term' => 'sequence_alteration' | |
133 } | |
134 , | |
135 'structural_variant' => { | |
136 'somatic_display_term' => 'somatic_SV', | |
137 'SO_accession' => 'SO:0001537', | |
138 'display_term' => 'SV' | |
139 } | |
140 , | |
141 'probe' => { | |
142 'somatic_display_term' => 'somatic_CNV_PROBE', | |
143 'SO_accession' => 'SO:0000051', | |
144 'display_term' => 'CNV_PROBE' | |
145 } | |
146 , | |
147 'copy_number_gain' => { | |
148 'somatic_display_term' => 'somatic_Gain', | |
149 'SO_accession' => 'SO:0001742', | |
150 'display_term' => 'Gain' | |
151 } | |
152 , | |
153 'copy_number_loss' => { | |
154 'somatic_display_term' => 'somatic_Loss', | |
155 'SO_accession' => 'SO:0001743', | |
156 'display_term' => 'Loss' | |
157 } | |
158 , | |
159 'inversion' => { | |
160 'somatic_display_term' => 'somatic_inversion', | |
161 'SO_accession' => 'SO:1000036', | |
162 'display_term' => 'inversion' | |
163 } | |
164 , | |
165 'complex_structural_alteration' => { | |
166 'somatic_display_term' => 'somatic_Complex', | |
167 'SO_accession' => 'SO:0001784', | |
168 'display_term' => 'Complex' | |
169 } | |
170 , | |
171 'tandem_duplication' => { | |
172 'somatic_display_term' => 'somatic_Tandem duplication', | |
173 'SO_accession' => 'SO:1000173', | |
174 'display_term' => 'Tandem duplication' | |
175 } | |
176 , | |
177 'mobile_element_insertion' => { | |
178 'somatic_display_term' => 'somatic_Mobile element insertion', | |
179 'SO_accession' => 'SO:0001837', | |
180 'display_term' => 'Mobile element insertion' | |
181 } | |
182 , | |
183 'interchromosomal_breakpoint' => { | |
184 'somatic_display_term' => 'somatic_Interchromosomal breakpoint', | |
185 'SO_accession' => 'SO:0001873', | |
186 'display_term' => 'Interchromosomal breakpoint' | |
187 } | |
188 , | |
189 'intrachromosomal_breakpoint' => { | |
190 'somatic_display_term' => 'somatic_Intrachromosomal breakpoint', | |
191 'SO_accession' => 'SO:0001874', | |
192 'display_term' => 'Intrachromosomal breakpoint' | |
193 } | |
194 , | |
195 'translocation' => { | |
196 'somatic_display_term' => 'somatic_translocation', | |
197 'SO_accession' => 'SO:0000199', | |
198 'display_term' => 'translocation' | |
199 } | |
200 , | |
201 'duplication' => { | |
202 'somatic_display_term' => 'somatic_Duplication', | |
203 'SO_accession' => 'SO:1000035', | |
204 'display_term' => 'Duplication' | |
205 } | |
206 , | |
207 ); | |
208 | |
209 our $DEFAULT_OVERLAP_CONSEQUENCE = Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
210 'tier' => '4', | |
211 'SO_term' => 'intergenic_variant', | |
212 'is_default' => 1, | |
213 'label' => 'Intergenic variant', | |
214 'description' => 'A sequence variant located in the intergenic region, between genes', | |
215 'rank' => '38', | |
216 'SO_accession' => 'SO:0001628', | |
217 'display_term' => 'INTERGENIC' | |
218 } | |
219 ); | |
220 | |
221 | |
222 our %OVERLAP_CONSEQUENCES = ( | |
223 'intergenic_variant' => $DEFAULT_OVERLAP_CONSEQUENCE, | |
224 'upstream_gene_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
225 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
226 'feature_SO_term' => 'transcript', | |
227 'description' => 'A sequence variant located 5\' of a gene', | |
228 'SO_accession' => 'SO:0001631', | |
229 'SO_term' => 'upstream_gene_variant', | |
230 'tier' => '3', | |
231 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::upstream', | |
232 'label' => 'Upstream gene variant', | |
233 'rank' => '24', | |
234 'display_term' => 'UPSTREAM', | |
235 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
236 } | |
237 ), | |
238 'downstream_gene_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
239 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
240 'feature_SO_term' => 'transcript', | |
241 'description' => 'A sequence variant located 3\' of a gene', | |
242 'SO_accession' => 'SO:0001632', | |
243 'SO_term' => 'downstream_gene_variant', | |
244 'tier' => '3', | |
245 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::downstream', | |
246 'label' => 'Downstream gene variant', | |
247 'rank' => '25', | |
248 'display_term' => 'DOWNSTREAM', | |
249 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
250 } | |
251 ), | |
252 'splice_donor_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
253 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', | |
254 'NCBI_term' => 'splice-5', | |
255 'feature_SO_term' => 'primary_transcript', | |
256 'description' => 'A splice variant that changes the 2 base region at the 5\' end of an intron', | |
257 'SO_accession' => 'SO:0001575', | |
258 'tier' => '3', | |
259 'SO_term' => 'splice_donor_variant', | |
260 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::donor_splice_site', | |
261 'label' => 'Splice donor variant', | |
262 'rank' => '3', | |
263 'display_term' => 'ESSENTIAL_SPLICE_SITE', | |
264 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
265 } | |
266 ), | |
267 'splice_acceptor_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
268 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', | |
269 'NCBI_term' => 'splice-3', | |
270 'feature_SO_term' => 'primary_transcript', | |
271 'description' => 'A splice variant that changes the 2 base region at the 3\' end of an intron', | |
272 'SO_accession' => 'SO:0001574', | |
273 'tier' => '3', | |
274 'SO_term' => 'splice_acceptor_variant', | |
275 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::acceptor_splice_site', | |
276 'label' => 'Splice acceptor variant', | |
277 'rank' => '3', | |
278 'display_term' => 'ESSENTIAL_SPLICE_SITE', | |
279 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
280 } | |
281 ), | |
282 'splice_region_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
283 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', | |
284 'feature_SO_term' => 'primary_transcript', | |
285 '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', | |
286 'SO_accession' => 'SO:0001630', | |
287 'SO_term' => 'splice_region_variant', | |
288 'tier' => '3', | |
289 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::splice_region', | |
290 'label' => 'Splice region variant', | |
291 'rank' => '13', | |
292 'display_term' => 'SPLICE_SITE', | |
293 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
294 } | |
295 ), | |
296 'intron_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
297 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
298 'NCBI_term' => 'intron', | |
299 'feature_SO_term' => 'primary_transcript', | |
300 'description' => 'A transcript variant occurring within an intron', | |
301 'SO_accession' => 'SO:0001627', | |
302 'tier' => '3', | |
303 'SO_term' => 'intron_variant', | |
304 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_intron', | |
305 'label' => 'Intron variant', | |
306 'rank' => '20', | |
307 'display_term' => 'INTRONIC', | |
308 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
309 } | |
310 ), | |
311 '5_prime_UTR_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
312 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
313 'NCBI_term' => 'untranslated_5', | |
314 'feature_SO_term' => 'mRNA', | |
315 'description' => 'A UTR variant of the 5\' UTR', | |
316 'SO_accession' => 'SO:0001623', | |
317 'tier' => '3', | |
318 'SO_term' => '5_prime_UTR_variant', | |
319 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_5_prime_utr', | |
320 'label' => '5 prime UTR variant', | |
321 'rank' => '18', | |
322 'display_term' => '5PRIME_UTR', | |
323 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
324 } | |
325 ), | |
326 '3_prime_UTR_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
327 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
328 'NCBI_term' => 'untranslated_3', | |
329 'feature_SO_term' => 'mRNA', | |
330 'description' => 'A UTR variant of the 3\' UTR', | |
331 'SO_accession' => 'SO:0001624', | |
332 'tier' => '3', | |
333 'SO_term' => '3_prime_UTR_variant', | |
334 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_3_prime_utr', | |
335 'label' => '3 prime UTR variant', | |
336 'rank' => '19', | |
337 'display_term' => '3PRIME_UTR', | |
338 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
339 } | |
340 ), | |
341 'synonymous_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
342 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', | |
343 'NCBI_term' => 'cds-synon', | |
344 'feature_SO_term' => 'mRNA', | |
345 'description' => 'A sequence variant where there is no resulting change to the encoded amino acid', | |
346 'SO_accession' => 'SO:0001819', | |
347 'tier' => '3', | |
348 'SO_term' => 'synonymous_variant', | |
349 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::synonymous_variant', | |
350 'label' => 'Synonymous variant', | |
351 'rank' => '15', | |
352 'display_term' => 'SYNONYMOUS_CODING', | |
353 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
354 } | |
355 ), | |
356 'missense_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
357 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', | |
358 'NCBI_term' => 'missense', | |
359 'feature_SO_term' => 'mRNA', | |
360 'description' => 'A sequence variant, where the change may be longer than 3 bases, and at least one base of a codon is changed resulting in a codon that encodes for a different amino acid', | |
361 'SO_accession' => 'SO:0001583', | |
362 'tier' => '3', | |
363 'SO_term' => 'missense_variant', | |
364 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::missense_variant', | |
365 'label' => 'Missense variant', | |
366 'rank' => '12', | |
367 'display_term' => 'NON_SYNONYMOUS_CODING', | |
368 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
369 } | |
370 ), | |
371 'inframe_insertion' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
372 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
373 'feature_SO_term' => 'mRNA', | |
374 'description' => 'An inframe non synonymous variant that inserts bases into in the coding sequence', | |
375 'SO_accession' => 'SO:0001821', | |
376 'SO_term' => 'inframe_insertion', | |
377 'tier' => '3', | |
378 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::inframe_insertion', | |
379 'label' => 'Inframe insertion', | |
380 'rank' => '10', | |
381 'display_term' => 'NON_SYNONYMOUS_CODING', | |
382 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
383 } | |
384 ), | |
385 'inframe_deletion' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
386 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
387 'feature_SO_term' => 'mRNA', | |
388 'description' => 'An inframe non synonymous variant that deletes bases from the coding sequence', | |
389 'SO_accession' => 'SO:0001822', | |
390 'SO_term' => 'inframe_deletion', | |
391 'tier' => '3', | |
392 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::inframe_deletion', | |
393 'label' => 'Inframe deletion', | |
394 'rank' => '11', | |
395 'display_term' => 'NON_SYNONYMOUS_CODING', | |
396 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
397 } | |
398 ), | |
399 'stop_gained' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
400 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', | |
401 'NCBI_term' => 'nonsense', | |
402 'feature_SO_term' => 'mRNA', | |
403 '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', | |
404 'SO_accession' => 'SO:0001587', | |
405 'tier' => '3', | |
406 'SO_term' => 'stop_gained', | |
407 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::stop_gained', | |
408 'label' => 'Stop gained', | |
409 'rank' => '4', | |
410 'display_term' => 'STOP_GAINED', | |
411 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
412 } | |
413 ), | |
414 'stop_lost' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
415 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
416 'feature_SO_term' => 'mRNA', | |
417 'description' => 'A sequence variant where at least one base of the terminator codon (stop) is changed, resulting in an elongated transcript', | |
418 'SO_accession' => 'SO:0001578', | |
419 'SO_term' => 'stop_lost', | |
420 'tier' => '3', | |
421 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::stop_lost', | |
422 'label' => 'Stop lost', | |
423 'rank' => '6', | |
424 'display_term' => 'STOP_LOST', | |
425 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
426 } | |
427 ), | |
428 'stop_retained_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
429 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', | |
430 'feature_SO_term' => 'mRNA', | |
431 'description' => 'A sequence variant where at least one base in the terminator codon is changed, but the terminator remains', | |
432 'SO_accession' => 'SO:0001567', | |
433 'SO_term' => 'stop_retained_variant', | |
434 'tier' => '3', | |
435 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::stop_retained', | |
436 'label' => 'Stop retained variant', | |
437 'rank' => '15', | |
438 'display_term' => 'SYNONYMOUS_CODING', | |
439 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
440 } | |
441 ), | |
442 'initiator_codon_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
443 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
444 'feature_SO_term' => 'mRNA', | |
445 'description' => 'A codon variant that changes at least one base of the first codon of a transcript', | |
446 'SO_accession' => 'SO:0001582', | |
447 'SO_term' => 'initiator_codon_variant', | |
448 'tier' => '3', | |
449 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::affects_start_codon', | |
450 'label' => 'Initiator codon variant', | |
451 'rank' => '7', | |
452 'display_term' => 'NON_SYNONYMOUS_CODING', | |
453 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
454 } | |
455 ), | |
456 'frameshift_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
457 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
458 'NCBI_term' => 'frameshift', | |
459 'feature_SO_term' => 'mRNA', | |
460 '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', | |
461 'SO_accession' => 'SO:0001589', | |
462 'tier' => '3', | |
463 'SO_term' => 'frameshift_variant', | |
464 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::frameshift', | |
465 'label' => 'Frameshift variant', | |
466 'rank' => '5', | |
467 'display_term' => 'FRAMESHIFT_CODING', | |
468 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
469 } | |
470 ), | |
471 'incomplete_terminal_codon_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
472 'variant_feature_class' => 'Bio::EnsEMBL::Variation::VariationFeature', | |
473 'feature_SO_term' => 'mRNA', | |
474 'description' => 'A sequence variant where at least one base of the final codon of an incompletely annotated transcript is changed', | |
475 'SO_accession' => 'SO:0001626', | |
476 'SO_term' => 'incomplete_terminal_codon_variant', | |
477 'tier' => '3', | |
478 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::partial_codon', | |
479 'label' => 'Incomplete terminal codon variant', | |
480 'rank' => '14', | |
481 'display_term' => 'PARTIAL_CODON', | |
482 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
483 } | |
484 ), | |
485 'NMD_transcript_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
486 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
487 'feature_SO_term' => 'mRNA', | |
488 'description' => 'A variant in a transcript that is the target of NMD', | |
489 'SO_accession' => 'SO:0001621', | |
490 'SO_term' => 'NMD_transcript_variant', | |
491 'tier' => '3', | |
492 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_nmd_transcript', | |
493 'label' => 'NMD transcript variant', | |
494 'rank' => '21', | |
495 'display_term' => 'NMD_TRANSCRIPT', | |
496 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
497 } | |
498 ), | |
499 'nc_transcript_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
500 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
501 'feature_SO_term' => 'ncRNA', | |
502 'description' => 'A transcript variant of a non coding RNA', | |
503 'SO_accession' => 'SO:0001619', | |
504 'SO_term' => 'nc_transcript_variant', | |
505 'tier' => '3', | |
506 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_non_coding_gene', | |
507 'label' => 'NC transcript variant', | |
508 'rank' => '23', | |
509 'display_term' => 'WITHIN_NON_CODING_GENE', | |
510 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
511 } | |
512 ), | |
513 'non_coding_exon_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
514 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
515 'feature_SO_term' => 'ncRNA', | |
516 'description' => 'A sequence variant that changes non-coding exon sequence', | |
517 'SO_accession' => 'SO:0001792', | |
518 'SO_term' => 'non_coding_exon_variant', | |
519 'tier' => '3', | |
520 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::non_coding_exon_variant', | |
521 'label' => 'Non coding exon variant', | |
522 'rank' => '22', | |
523 'display_term' => 'WITHIN_NON_CODING_GENE', | |
524 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
525 } | |
526 ), | |
527 'mature_miRNA_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
528 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
529 'feature_SO_term' => 'miRNA', | |
530 'description' => 'A transcript variant located with the sequence of the mature miRNA', | |
531 'SO_accession' => 'SO:0001620', | |
532 'SO_term' => 'mature_miRNA_variant', | |
533 'tier' => '2', | |
534 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_mature_miRNA', | |
535 'label' => 'Mature miRNA variant', | |
536 'rank' => '17', | |
537 'display_term' => 'WITHIN_MATURE_miRNA', | |
538 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
539 } | |
540 ), | |
541 'coding_sequence_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
542 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
543 'feature_SO_term' => 'mRNA', | |
544 'description' => 'A sequence variant that changes the coding sequence', | |
545 'SO_accession' => 'SO:0001580', | |
546 'SO_term' => 'coding_sequence_variant', | |
547 'tier' => '3', | |
548 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::coding_unknown', | |
549 'label' => 'Coding sequence variant', | |
550 'rank' => '16', | |
551 'display_term' => 'CODING_UNKNOWN', | |
552 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
553 } | |
554 ), | |
555 'regulatory_region_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
556 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
557 'feature_SO_term' => 'regulatory_region', | |
558 'description' => 'A sequence variant located within a regulatory region', | |
559 'SO_accession' => 'SO:0001566', | |
560 'SO_term' => 'regulatory_region_variant', | |
561 'tier' => '2', | |
562 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_regulatory_feature', | |
563 'label' => 'Regulatory region variant', | |
564 'rank' => '36', | |
565 'display_term' => 'REGULATORY_REGION', | |
566 'feature_class' => 'Bio::EnsEMBL::Funcgen::RegulatoryFeature' | |
567 } | |
568 ), | |
569 'TF_binding_site_variant' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
570 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
571 'feature_SO_term' => 'TF_binding_site', | |
572 'description' => 'In regulatory region annotated by Ensembl', | |
573 'SO_accession' => 'SO:0001782', | |
574 'SO_term' => 'TF_binding_site_variant', | |
575 'tier' => '2', | |
576 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::within_motif_feature', | |
577 'label' => 'A sequence variant located within a transcription factor binding site', | |
578 'rank' => '30', | |
579 'display_term' => 'REGULATORY_REGION', | |
580 'feature_class' => 'Bio::EnsEMBL::Funcgen::MotifFeature' | |
581 } | |
582 ), | |
583 'transcript_ablation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
584 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
585 'feature_SO_term' => 'mRNA', | |
586 'description' => 'A feature ablation whereby the deleted region includes a transcript feature', | |
587 'SO_accession' => 'SO:0001893', | |
588 'SO_term' => 'transcript_ablation', | |
589 'tier' => '1', | |
590 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_ablation', | |
591 'label' => 'Transcript ablation', | |
592 'rank' => '1', | |
593 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
594 } | |
595 ), | |
596 'transcript_amplification' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
597 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
598 'feature_SO_term' => 'mRNA', | |
599 'description' => 'A feature amplification of a region containing a transcript', | |
600 'SO_accession' => 'SO:0001889', | |
601 'SO_term' => 'transcript_amplification', | |
602 'tier' => '1', | |
603 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_amplification', | |
604 'label' => 'Transcript amplification', | |
605 'rank' => '8', | |
606 'feature_class' => 'Bio::EnsEMBL::Transcript' | |
607 } | |
608 ), | |
609 'TFBS_ablation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
610 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
611 'feature_SO_term' => 'TF_binding_site', | |
612 'description' => 'A feature ablation whereby the deleted region includes a transcription factor binding site', | |
613 'SO_accession' => 'SO:0001895', | |
614 'SO_term' => 'TFBS_ablation', | |
615 'tier' => '2', | |
616 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_ablation', | |
617 'label' => 'TFBS ablation', | |
618 'rank' => '26', | |
619 'feature_class' => 'Bio::EnsEMBL::Funcgen::MotifFeature' | |
620 } | |
621 ), | |
622 'TFBS_amplification' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
623 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
624 'feature_SO_term' => 'TF_binding_site', | |
625 'description' => 'A feature amplification of a region containing a transcription factor binding site', | |
626 'SO_accession' => 'SO:0001892', | |
627 'SO_term' => 'TFBS_amplification', | |
628 'tier' => '2', | |
629 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_amplification', | |
630 'label' => 'TFBS amplification', | |
631 'rank' => '28', | |
632 'feature_class' => 'Bio::EnsEMBL::Funcgen::MotifFeature' | |
633 } | |
634 ), | |
635 'regulatory_region_ablation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
636 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
637 'feature_SO_term' => 'TF_binding_site', | |
638 'description' => 'A feature ablation whereby the deleted region includes a regulatory region', | |
639 'SO_accession' => 'SO:0001894', | |
640 'SO_term' => 'regulatory_region_ablation', | |
641 'tier' => '2', | |
642 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_ablation', | |
643 'label' => 'Regulatory region ablation', | |
644 'rank' => '31', | |
645 'feature_class' => 'Bio::EnsEMBL::Funcgen::RegulatoryFeature' | |
646 } | |
647 ), | |
648 'regulatory_region_amplification' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
649 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
650 'feature_SO_term' => 'TF_binding_site', | |
651 'description' => 'A feature amplification of a region containing a regulatory region', | |
652 'SO_accession' => 'SO:0001891', | |
653 'SO_term' => 'regulatory_region_amplification', | |
654 'tier' => '2', | |
655 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_amplification', | |
656 'label' => 'Regulatory region amplification', | |
657 'rank' => '33', | |
658 'feature_class' => 'Bio::EnsEMBL::Funcgen::RegulatoryFeature' | |
659 } | |
660 ), | |
661 'feature_elongation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
662 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
663 'description' => 'A sequence variant that causes the extension of a genomic feature, with regard to the reference sequence', | |
664 'SO_accession' => 'SO:0001907', | |
665 'SO_term' => 'feature_elongation', | |
666 'tier' => '3', | |
667 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_elongation', | |
668 'label' => 'Feature elongation', | |
669 'rank' => '36', | |
670 'feature_class' => 'Bio::EnsEMBL::Feature' | |
671 } | |
672 ), | |
673 'feature_truncation' => Bio::EnsEMBL::Variation::OverlapConsequence->new_fast({ | |
674 'variant_feature_class' => 'Bio::EnsEMBL::Variation::BaseVariationFeature', | |
675 'description' => 'A sequence variant that causes the reduction of a genomic feature, with regard to the reference sequence', | |
676 'SO_accession' => 'SO:0001906', | |
677 'SO_term' => 'feature_truncation', | |
678 'tier' => '3', | |
679 'predicate' => 'Bio::EnsEMBL::Variation::Utils::VariationEffect::feature_truncation', | |
680 'label' => 'Feature truncation', | |
681 'rank' => '37', | |
682 'feature_class' => 'Bio::EnsEMBL::Feature' | |
683 } | |
684 ), | |
685 ); | |
686 | |
687 1; |