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EffectType.java
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EffectType.java
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package org.snpeff.snpEffect;
import java.util.HashMap;
import java.util.Map;
import org.snpeff.interval.Variant;
import org.snpeff.snpEffect.VariantEffect.EffectImpact;
import org.snpeff.vcf.EffFormatVersion;
/**
* Effect type:
* Note that effects are sorted (declared) by impact (highest to lowest putative impact).
* The idea is to be able to report only one effect per variant/transcript
*
* @author pcingola
*/
public enum EffectType {
// High impact
// Order: Highest impact first
CHROMOSOME_LARGE_DELETION(EffectImpact.HIGH) //
, CHROMOSOME_LARGE_INVERSION(EffectImpact.HIGH) //
, CHROMOSOME_LARGE_DUPLICATION(EffectImpact.HIGH) //
, GENE_REARRANGEMENT(EffectImpact.HIGH) //
, GENE_DELETED(EffectImpact.HIGH) //
, TRANSCRIPT_DELETED(EffectImpact.HIGH) //
, EXON_DELETED(EffectImpact.HIGH) //
, EXON_DELETED_PARTIAL(EffectImpact.HIGH) //
, GENE_FUSION(EffectImpact.HIGH) //
, GENE_FUSION_REVERESE(EffectImpact.HIGH) //
, GENE_FUSION_HALF(EffectImpact.HIGH) //
, FRAME_SHIFT(EffectImpact.HIGH) //
, STOP_GAINED(EffectImpact.HIGH) //
, STOP_LOST(EffectImpact.HIGH) //
, START_LOST(EffectImpact.HIGH) //
, SPLICE_SITE_ACCEPTOR(EffectImpact.HIGH) //
, SPLICE_SITE_DONOR(EffectImpact.HIGH) //
, RARE_AMINO_ACID(EffectImpact.HIGH) //
, EXON_DUPLICATION(EffectImpact.HIGH) //
, EXON_DUPLICATION_PARTIAL(EffectImpact.HIGH) //
, EXON_INVERSION(EffectImpact.HIGH) //
, EXON_INVERSION_PARTIAL(EffectImpact.HIGH) //
, PROTEIN_PROTEIN_INTERACTION_LOCUS(EffectImpact.HIGH) //
, PROTEIN_STRUCTURAL_INTERACTION_LOCUS(EffectImpact.HIGH) //
// Moderate impact
// Order: Highest impact first
// Note: Method Codon.effect() relies on this order for effect
// replacement (when 'allowReplace = true')
, NON_SYNONYMOUS_CODING(EffectImpact.MODERATE) //
, GENE_DUPLICATION(EffectImpact.MODERATE) //
, TRANSCRIPT_DUPLICATION(EffectImpact.MODERATE) //
, UTR_5_DELETED(EffectImpact.MODERATE) //
, UTR_3_DELETED(EffectImpact.MODERATE) //
, SPLICE_SITE_BRANCH_U12(EffectImpact.MODERATE) //
, GENE_INVERSION(EffectImpact.MODERATE) //
, TRANSCRIPT_INVERSION(EffectImpact.MODERATE) //
, CODON_INSERTION(EffectImpact.MODERATE) //
, CODON_CHANGE_PLUS_CODON_INSERTION(EffectImpact.MODERATE) //
, CODON_DELETION(EffectImpact.MODERATE) //
, CODON_CHANGE_PLUS_CODON_DELETION(EffectImpact.MODERATE) //
// Low impact
// Order: Highest impact first
, NON_SYNONYMOUS_STOP(EffectImpact.LOW) //
, NON_SYNONYMOUS_START(EffectImpact.LOW) //
, SPLICE_SITE_REGION(EffectImpact.LOW) //
, SPLICE_SITE_BRANCH(EffectImpact.LOW) //
, SYNONYMOUS_CODING(EffectImpact.LOW) //
, SYNONYMOUS_START(EffectImpact.LOW) //
, SYNONYMOUS_STOP(EffectImpact.LOW) //
, CODON_CHANGE(EffectImpact.LOW) //
, START_GAINED(EffectImpact.LOW) //
, MOTIF(EffectImpact.LOW) //
, MOTIF_DELETED(EffectImpact.LOW) //
, FEATURE_FUSION(EffectImpact.LOW) //
// Modifiers
// Order: Highest impact first
, FRAME_SHIFT_BEFORE_CDS_START(EffectImpact.MODIFIER) //
, FRAME_SHIFT_AFTER_CDS_END(EffectImpact.MODIFIER) //
, UTR_5_PRIME(EffectImpact.MODIFIER) //
, UTR_3_PRIME(EffectImpact.MODIFIER) //
, REGULATION(EffectImpact.MODIFIER) //
, MICRO_RNA(EffectImpact.MODIFIER) //
, UPSTREAM(EffectImpact.MODIFIER) //
, DOWNSTREAM(EffectImpact.MODIFIER) //
, NEXT_PROT(EffectImpact.MODIFIER) //
, INTRON_CONSERVED(EffectImpact.MODIFIER) //
, INTRON(EffectImpact.MODIFIER) //
, INTRAGENIC(EffectImpact.MODIFIER) //
, INTERGENIC_CONSERVED(EffectImpact.MODIFIER) //
, INTERGENIC(EffectImpact.MODIFIER) //
, CDS(EffectImpact.MODIFIER) //
, EXON(EffectImpact.MODIFIER) //
, TRANSCRIPT(EffectImpact.MODIFIER) //
, GENE(EffectImpact.MODIFIER) //
, SEQUENCE(EffectImpact.MODIFIER) //
, CHROMOSOME_ELONGATION(EffectImpact.MODIFIER) //
, CUSTOM(EffectImpact.MODIFIER) //
, CHROMOSOME(EffectImpact.MODIFIER) //
, GENOME(EffectImpact.MODIFIER) //
, NONE(EffectImpact.MODIFIER) //
;
static Map<String, EffectType> so2efftype = new HashMap<>();
private final EffectImpact effectImpact;
/**
* Parse a string to an EffectType
*/
public static EffectType parse(EffFormatVersion formatVersion, String str) {
try {
return EffectType.valueOf(str);
} catch (Exception e) {
// OK, the value does not exits. Try Sequence Ontology
}
// Populate S.O. terms map
if (so2efftype.isEmpty()) {
// In some cases a 'non-variant' has different effect (e.g. 'exon_region'), so we need to call this twice
so2efftype(formatVersion, null);
so2efftype(formatVersion, Variant.NO_VARIANT);
}
// Look up S.O. term
if (so2efftype.containsKey(str)) return so2efftype.get(str);
throw new RuntimeException("Cannot parse EffectType '" + str + "'");
}
/**
* Create a map between SO terms and EffectType
*/
static void so2efftype(EffFormatVersion formatVersion, Variant variant) {
for (EffectType efftype : EffectType.values()) {
String so = efftype.toSequenceOntology(formatVersion, variant);
for (String soSingle : so.split(formatVersion.separatorSplit()))
if (!so2efftype.containsKey(soSingle)) so2efftype.put(soSingle, efftype);
}
//---
// Add old terms for backwards compatibility
//---
Map<String, EffectType> oldSo2efftype = new HashMap<>();
oldSo2efftype.put("non_coding_exon_variant", EffectType.EXON);
oldSo2efftype.put("inframe_insertion", EffectType.CODON_INSERTION);
oldSo2efftype.put("inframe_deletion", EffectType.CODON_DELETION);
oldSo2efftype.put("transcript", EffectType.TRANSCRIPT);
oldSo2efftype.put("non_canonical_start_codon", EffectType.SYNONYMOUS_START);
// Add terms if not already in the map
for (String so : oldSo2efftype.keySet()) {
if (!so2efftype.containsKey(so)) so2efftype.put(so, oldSo2efftype.get(so));
}
}
private EffectType(EffectImpact effectImpact) {
this.effectImpact = effectImpact;
}
/**
* Return effect impact
*/
public EffectImpact effectImpact() {
return effectImpact;
}
public EffectType getGeneRegion() {
switch (this) {
case NONE:
case CHROMOSOME:
case CHROMOSOME_LARGE_DELETION:
case CHROMOSOME_LARGE_DUPLICATION:
case CHROMOSOME_LARGE_INVERSION:
case CHROMOSOME_ELONGATION:
case CUSTOM:
case SEQUENCE:
return EffectType.CHROMOSOME;
case INTERGENIC:
case INTERGENIC_CONSERVED:
case FEATURE_FUSION:
return EffectType.INTERGENIC;
case UPSTREAM:
return EffectType.UPSTREAM;
case UTR_5_PRIME:
case UTR_5_DELETED:
case START_GAINED:
return EffectType.UTR_5_PRIME;
case SPLICE_SITE_ACCEPTOR:
return EffectType.SPLICE_SITE_ACCEPTOR;
case SPLICE_SITE_BRANCH_U12:
case SPLICE_SITE_BRANCH:
return EffectType.SPLICE_SITE_BRANCH;
case SPLICE_SITE_DONOR:
return EffectType.SPLICE_SITE_DONOR;
case SPLICE_SITE_REGION:
return EffectType.SPLICE_SITE_REGION;
case TRANSCRIPT_DELETED:
case TRANSCRIPT_DUPLICATION:
case TRANSCRIPT_INVERSION:
case INTRAGENIC:
case NEXT_PROT:
case TRANSCRIPT:
case CDS:
return EffectType.TRANSCRIPT;
case GENE:
case GENE_DELETED:
case GENE_DUPLICATION:
case GENE_FUSION:
case GENE_FUSION_HALF:
case GENE_FUSION_REVERESE:
case GENE_INVERSION:
case GENE_REARRANGEMENT:
return EffectType.GENE;
case EXON:
case EXON_DELETED:
case EXON_DELETED_PARTIAL:
case EXON_DUPLICATION:
case EXON_DUPLICATION_PARTIAL:
case EXON_INVERSION:
case EXON_INVERSION_PARTIAL:
case NON_SYNONYMOUS_START:
case NON_SYNONYMOUS_CODING:
case SYNONYMOUS_CODING:
case SYNONYMOUS_START:
case FRAME_SHIFT:
case FRAME_SHIFT_AFTER_CDS_END:
case FRAME_SHIFT_BEFORE_CDS_START:
case CODON_CHANGE:
case CODON_INSERTION:
case CODON_CHANGE_PLUS_CODON_INSERTION:
case CODON_DELETION:
case CODON_CHANGE_PLUS_CODON_DELETION:
case START_LOST:
case STOP_GAINED:
case SYNONYMOUS_STOP:
case NON_SYNONYMOUS_STOP:
case STOP_LOST:
case RARE_AMINO_ACID:
case PROTEIN_PROTEIN_INTERACTION_LOCUS:
case PROTEIN_STRUCTURAL_INTERACTION_LOCUS:
return EffectType.EXON;
case INTRON:
case INTRON_CONSERVED:
return EffectType.INTRON;
case UTR_3_PRIME:
case UTR_3_DELETED:
return EffectType.UTR_3_PRIME;
case DOWNSTREAM:
return EffectType.DOWNSTREAM;
case REGULATION:
return EffectType.REGULATION;
case MOTIF:
case MOTIF_DELETED:
return EffectType.MOTIF;
case MICRO_RNA:
return EffectType.MICRO_RNA;
case GENOME:
return EffectType.GENOME;
default:
throw new RuntimeException("Unknown gene region for effect type: '" + this + "'");
}
}
public boolean isFusion() {
return this == GENE_FUSION //
|| this == GENE_FUSION_REVERESE //
|| this == GENE_FUSION_HALF //
|| this == FEATURE_FUSION //
;
}
public String toSequenceOntology(EffFormatVersion formatVersion, Variant variant) {
switch (this) {
case CDS:
return "coding_sequence_variant";
case CHROMOSOME_LARGE_DELETION:
return "chromosome_number_variation";
case CHROMOSOME_LARGE_DUPLICATION:
return "duplication";
case CHROMOSOME_LARGE_INVERSION:
return "inversion";
case CHROMOSOME:
return "chromosome";
case CHROMOSOME_ELONGATION:
return "feature_elongation";
case CODON_CHANGE:
return "coding_sequence_variant";
case CODON_CHANGE_PLUS_CODON_INSERTION:
return "disruptive_inframe_insertion";
case CODON_CHANGE_PLUS_CODON_DELETION:
return "disruptive_inframe_deletion";
case CODON_DELETION:
return "conservative_inframe_deletion";
case CODON_INSERTION:
return "conservative_inframe_insertion";
case DOWNSTREAM:
return "downstream_gene_variant";
case EXON:
if (variant != null && (!variant.isVariant() || variant.isInterval())) return "exon_region";
return "non_coding_transcript_exon_variant";
case EXON_DELETED:
return "exon_loss_variant";
case EXON_DELETED_PARTIAL:
return "exon_loss_variant";
case EXON_DUPLICATION:
return "duplication";
case EXON_DUPLICATION_PARTIAL:
return "duplication";
case EXON_INVERSION:
return "inversion";
case EXON_INVERSION_PARTIAL:
return "inversion";
case FEATURE_FUSION:
return "feature_fusion";
case FRAME_SHIFT:
return "frameshift_variant";
case FRAME_SHIFT_BEFORE_CDS_START:
return "start_retained_variant";
case FRAME_SHIFT_AFTER_CDS_END:
return "stop_retained_variant";
case GENE:
return "gene_variant";
case GENE_INVERSION:
return "inversion";
case GENE_DELETED:
return "feature_ablation";
case GENE_DUPLICATION:
return "duplication";
case GENE_FUSION:
return "gene_fusion";
case GENE_FUSION_HALF:
return "transcript_ablation";
case GENE_FUSION_REVERESE:
return "bidirectional_gene_fusion";
case GENE_REARRANGEMENT:
return "rearranged_at_DNA_level";
case INTERGENIC:
return "intergenic_region";
case INTERGENIC_CONSERVED:
return "conserved_intergenic_variant";
case INTRON:
return "intron_variant";
case INTRON_CONSERVED:
return "conserved_intron_variant";
case INTRAGENIC:
return "intragenic_variant";
case MICRO_RNA:
return "miRNA";
case MOTIF:
return "TF_binding_site_variant";
case MOTIF_DELETED:
return "TFBS_ablation";
case NEXT_PROT:
return "sequence_feature";
case NON_SYNONYMOUS_CODING:
return "missense_variant";
case NON_SYNONYMOUS_START:
return "initiator_codon_variant";
case NON_SYNONYMOUS_STOP:
return "stop_retained_variant";
case PROTEIN_PROTEIN_INTERACTION_LOCUS:
return "protein_protein_contact";
case PROTEIN_STRUCTURAL_INTERACTION_LOCUS:
return "structural_interaction_variant";
case RARE_AMINO_ACID:
return "rare_amino_acid_variant";
case REGULATION:
return "regulatory_region_variant";
case SPLICE_SITE_ACCEPTOR:
return "splice_acceptor_variant";
case SPLICE_SITE_DONOR:
return "splice_donor_variant";
case SPLICE_SITE_REGION:
return "splice_region_variant";
case SPLICE_SITE_BRANCH:
return "splice_branch_variant";
case SPLICE_SITE_BRANCH_U12:
return "splice_branch_variant";
case START_LOST:
return "start_lost";
case START_GAINED:
return "5_prime_UTR_premature_start_codon_gain_variant";
case STOP_GAINED:
return "stop_gained";
case STOP_LOST:
return "stop_lost";
case SYNONYMOUS_CODING:
return "synonymous_variant";
case SYNONYMOUS_STOP:
return "stop_retained_variant";
case SYNONYMOUS_START:
return "start_retained_variant";
case TRANSCRIPT:
return "non_coding_transcript_variant";
case TRANSCRIPT_DELETED:
return "transcript_ablation";
case TRANSCRIPT_DUPLICATION:
return "duplication";
case TRANSCRIPT_INVERSION:
return "inversion";
case UPSTREAM:
return "upstream_gene_variant";
case UTR_3_PRIME:
return "3_prime_UTR_variant";
case UTR_3_DELETED:
return "3_prime_UTR_truncation" + formatVersion.separator() + "exon_loss_variant";
case UTR_5_PRIME:
return "5_prime_UTR_variant";
case UTR_5_DELETED:
return "5_prime_UTR_truncation" + formatVersion.separator() + "exon_loss_variant";
case CUSTOM:
return "custom";
case NONE:
case GENOME:
case SEQUENCE:
return "";
default:
throw new RuntimeException("Unknown SO term for " + this.toString());
}
}
}