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;