Examples with KnownGene com.github.lindenb.jvarkit.util.ucsc.KnownGene used on opensource projects

Example 1 with KnownGene

use of com.github.lindenb.jvarkit.util.ucsc.KnownGene in project jvarkit by lindenb.

the class BackLocate method loadKnownGenesFromUri.

private void loadKnownGenesFromUri(String kgURI) throws IOException {
    if (this.referenceGenome.getDictionary() == null) {
        throw new JvarkitException.FastaDictionaryMissing("No sequence dictionary in " + this.indexedRefUri);
    }
    LOG.info("loading genes");
    final Set<String> unknown = new HashSet<String>();
    BufferedReader in = IOUtils.openURIForBufferedReading(kgURI);
    String line;
    final Pattern tab = Pattern.compile("[\t]");
    while ((line = in.readLine()) != null) {
        if (line.isEmpty())
            continue;
        final String[] tokens = tab.split(line);
        final KnownGene g = new KnownGene(tokens);
        final Interval rgn = new Interval(g.getContig(), g.getTxStart() + 1, g.getTxEnd());
        if (this.referenceGenome.getDictionary().getSequence(rgn.getContig()) == null) {
            if (!unknown.contains(g.getContig())) {
                LOG.warn("The reference doesn't contain chromosome " + g.getContig());
                unknown.add(g.getContig());
            }
            continue;
        }
        this.knwonGenes.put(g.getName(), g);
    }
    in.close();
    LOG.info("genes:" + this.knwonGenes.size());
}

Example 2 with KnownGene

use of com.github.lindenb.jvarkit.util.ucsc.KnownGene in project jvarkit by lindenb.

the class Biostar81455 method doWork.

@Override
public int doWork(List<String> args) {
    BufferedReader r = null;
    String line;
    PrintStream out = null;
    final Pattern tab = Pattern.compile("[\t]");
    try {
        if (this.kgUri == null || this.kgUri.trim().isEmpty()) {
            LOG.error("undefined kguri");
            return -1;
        }
        LOG.info("readubf " + kgUri);
        this.kgMap = KnownGene.loadUriAsIntervalTreeMap(this.kgUri, (kg) -> kg.getExonCount() != 0);
    } catch (final Exception err) {
        LOG.error(err);
        return -1;
    } finally {
        CloserUtil.close(r);
    }
    try {
        r = super.openBufferedReader(oneFileOrNull(args));
        out = openFileOrStdoutAsPrintStream(this.outputFile);
        while ((line = r.readLine()) != null) {
            if (line.startsWith("#")) {
                out.println(line);
                continue;
            }
            boolean found = false;
            String[] tokens = tab.split(line);
            int pos0 = Integer.parseInt(tokens[1]);
            final IntervalTree<List<KnownGene>> kgs = kgMap.debugGetTree(tokens[0]);
            if (kgs == null) {
                LOG.info("no gene found in chromosome " + tokens[0] + " (check chrom prefix?)");
            } else {
                KnownGene bestGene = null;
                for (Iterator<IntervalTree.Node<List<KnownGene>>> iter = kgs.iterator(); iter.hasNext(); ) {
                    for (KnownGene kg : iter.next().getValue()) {
                        if (bestGene == null || Math.abs(distance(pos0, kg)) < Math.abs(distance(pos0, bestGene))) {
                            bestGene = kg;
                        }
                    }
                }
                if (bestGene != null) {
                    // get all transcritpts
                    final List<KnownGene> overlapKg = new ArrayList<>();
                    for (final List<KnownGene> lkg : kgMap.getOverlapping(new Interval(bestGene.getChromosome(), bestGene.getTxStart() + 1, bestGene.getTxEnd()))) {
                        overlapKg.addAll(lkg);
                    }
                    for (final KnownGene kg : overlapKg) {
                        KnownGene.Exon bestExon = null;
                        for (KnownGene.Exon exon : kg.getExons()) {
                            if (bestExon == null || Math.abs(distance(pos0, exon)) < Math.abs(distance(pos0, bestExon))) {
                                bestExon = exon;
                            }
                        }
                        if (bestExon != null) {
                            out.println(line + "\t" + kg.getName() + "\t" + kg.getTxStart() + "\t" + kg.getTxEnd() + "\t" + kg.getStrand() + "\t" + bestExon.getName() + "\t" + bestExon.getStart() + "\t" + bestExon.getEnd() + "\t" + distance(pos0, bestExon));
                            found = true;
                        }
                    }
                }
            }
            if (!found) {
                out.println(line + "\tNULL");
            }
        }
        return RETURN_OK;
    } catch (Exception err) {
        LOG.error(err);
        return -1;
    } finally {
        CloserUtil.close(r);
        CloserUtil.close(out);
    }
}

Example 3 with KnownGene

use of com.github.lindenb.jvarkit.util.ucsc.KnownGene in project jvarkit by lindenb.

the class VcfDoest method run.

private void run(final LineIterator lr, final PrintWriter pw) throws IOException {
    SortingCollection<TranscriptInfo> sorting = null;
    CloseableIterator<TranscriptInfo> iter2 = null;
    try {
        while (lr.hasNext()) {
            VcfIterator in = VCFUtils.createVcfIteratorFromLineIterator(lr, true);
            final VCFHeader header = in.getHeader();
            final Pedigree pedigree = Pedigree.newParser().parse(header);
            if (pedigree.isEmpty()) {
                throw new IOException("No pedigree found in header VCF header. use VcfInjectPedigree to add it");
            }
            final SortedSet<Pedigree.Person> individuals = new TreeSet<>();
            for (final Pedigree.Person individual : pedigree.getPersons()) {
                if (individual.isAffected() || individual.isUnaffected()) {
                    individuals.add(individual);
                }
            }
            boolean first = true;
            pw.println("# samples ( 0: unaffected 1:affected)");
            pw.print("population <- data.frame(family=c(");
            first = true;
            for (final Pedigree.Person person : individuals) {
                if (!first)
                    pw.print(",");
                pw.print("\"" + person.getFamily().getId() + "\"");
                first = false;
            }
            pw.print("),name=c(");
            first = true;
            for (final Pedigree.Person person : individuals) {
                if (!first)
                    pw.print(",");
                pw.print("\"" + person.getId() + "\"");
                first = false;
            }
            pw.print("),status=c(");
            first = true;
            for (final Pedigree.Person person : individuals) {
                if (!first)
                    pw.print(",");
                pw.print(person.isUnaffected() ? 0 : 1);
                first = false;
            }
            pw.println("))");
            sorting = SortingCollection.newInstance(TranscriptInfo.class, new TranscriptInfoCodec(), new TranscriptInfoCmp(), this.writingSortingCollection.getMaxRecordsInRam(), this.writingSortingCollection.getTmpPaths());
            sorting.setDestructiveIteration(true);
            final SAMSequenceDictionaryProgress progess = new SAMSequenceDictionaryProgress(header.getSequenceDictionary());
            /**
             * loop over variants
             */
            while (in.hasNext() && !pw.checkError()) {
                final VariantContext ctx = progess.watch(in.next());
                if (ctx.isFiltered())
                    continue;
                if (ctx.getAlternateAlleles().isEmpty())
                    continue;
                final Allele altAllele = ctx.getAltAlleleWithHighestAlleleCount();
                final MafCalculator mafCalculator = new MafCalculator(altAllele, ctx.getContig());
                boolean genotyped = false;
                for (final Pedigree.Person p : pedigree.getPersons()) {
                    if (!(p.isAffected() || p.isUnaffected()))
                        continue;
                    final Genotype g = ctx.getGenotype(p.getId());
                    if (g == null)
                        throw new IOException("Strange I cannot find individual " + p + " in the pedigree. Aborting.");
                    if (g.isCalled()) {
                        mafCalculator.add(g, p.isMale());
                    }
                    if (g.isHet() || g.isHomVar()) {
                        if (!g.getAlleles().contains(altAllele))
                            continue;
                        genotyped = true;
                        break;
                    }
                }
                if (!genotyped)
                    continue;
                final Interval interval = new Interval(ctx.getContig(), ctx.getStart(), ctx.getEnd());
                final List<KnownGene> genes = this.overlap(interval);
                if (genes.isEmpty())
                    continue;
                for (final KnownGene kg : genes) {
                    final TranscriptInfo trInfo = new TranscriptInfo();
                    trInfo.contig = kg.getContig();
                    trInfo.txStart = kg.getTxStart();
                    trInfo.txEnd = kg.getTxEnd();
                    trInfo.transcriptName = kg.getName();
                    trInfo.strand = (byte) (kg.isPositiveStrand() ? '+' : '-');
                    trInfo.exonCount = kg.getExonCount();
                    trInfo.transcriptLength = kg.getTranscriptLength();
                    trInfo.ctxStart = ctx.getStart();
                    trInfo.ref = ctx.getReference();
                    trInfo.alt = altAllele;
                    trInfo.maf = mafCalculator.getMaf();
                    trInfo.genotypes = new byte[individuals.size()];
                    int idx = 0;
                    for (final Pedigree.Person individual : individuals) {
                        final Genotype genotype = ctx.getGenotype(individual.getId());
                        final byte b;
                        if (genotype.isHomRef()) {
                            b = 0;
                        } else if (genotype.isHomVar() && genotype.getAlleles().contains(altAllele)) {
                            b = 2;
                        } else if (genotype.isHet() && genotype.getAlleles().contains(altAllele) && genotype.getAlleles().contains(ctx.getReference())) {
                            b = 1;
                        } else /* we treat 0/2 has hom-ref */
                        if (genotype.isHet() && !genotype.getAlleles().contains(altAllele) && genotype.getAlleles().contains(ctx.getReference())) {
                            LOG.warn("Treating " + genotype + " as hom-ref (0) alt=" + altAllele);
                            b = 0;
                        } else /* we treat 2/2 has hom-ref */
                        if (genotype.isHomVar() && !genotype.getAlleles().contains(altAllele)) {
                            LOG.warn("Treating " + genotype + " as hom-ref (0) alt=" + altAllele);
                            b = 0;
                        } else {
                            b = -9;
                        }
                        trInfo.genotypes[idx] = b;
                        ++idx;
                    }
                    KnownGene archetype = kg;
                    /* find gene archetype = longest overlapping */
                    for (final KnownGene kg2 : genes) {
                        if (kg2 == kg)
                            continue;
                        if (archetype.getStrand().equals(kg2.getStrand()) && archetype.getTranscriptLength() < kg2.getTranscriptLength()) {
                            archetype = kg2;
                        }
                    }
                    trInfo.archetypeName = archetype.getName();
                    trInfo.archetypeLength = archetype.getTranscriptLength();
                    boolean ctxWasFoundInExon = false;
                    final int ctxPos0 = ctx.getStart() - 1;
                    int indexInTranscript0 = 0;
                    for (final KnownGene.Exon exon : kg.getExons()) {
                        // variant in exon ?
                        if (!(exon.getStart() > (ctx.getEnd() - 1) || (ctx.getStart() - 1) >= exon.getEnd())) {
                            ctxWasFoundInExon = true;
                            indexInTranscript0 += (ctxPos0 - exon.getStart());
                            if (kg.isNegativeStrand()) {
                                indexInTranscript0 = (kg.getTranscriptLength() - 1) - indexInTranscript0;
                            }
                            trInfo.indexInTranscript0 = indexInTranscript0;
                            trInfo.overlapName = exon.getName();
                            sorting.add(trInfo);
                            break;
                        } else {
                            indexInTranscript0 += (exon.getEnd() - exon.getStart());
                        }
                    }
                    if (ctxWasFoundInExon) {
                        continue;
                    }
                    indexInTranscript0 = 0;
                    // search closest intron/exon junction
                    for (int ex = 0; ex + 1 < kg.getExonCount(); ++ex) {
                        final KnownGene.Exon exon1 = kg.getExon(ex);
                        indexInTranscript0 += (exon1.getEnd() - exon1.getStart());
                        final KnownGene.Exon exon2 = kg.getExon(ex + 1);
                        if (exon1.getEnd() <= ctxPos0 && ctxPos0 < exon2.getStart()) {
                            final int dist_to_exon1 = ctxPos0 - exon1.getEnd();
                            final int dist_to_exon2 = exon2.getStart() - ctxPos0;
                            if (dist_to_exon2 < dist_to_exon1) {
                                indexInTranscript0++;
                            }
                            if (kg.isNegativeStrand()) {
                                indexInTranscript0 = (kg.getTranscriptLength() - 1) - indexInTranscript0;
                            }
                            trInfo.indexInTranscript0 = indexInTranscript0;
                            trInfo.overlapName = exon1.getNextIntron().getName();
                            sorting.add(trInfo);
                            break;
                        }
                    }
                }
            // end loop over genes
            }
            // end while loop over variants
            progess.finish();
            sorting.doneAdding();
            LOG.info("done adding");
            iter2 = sorting.iterator();
            final EqualRangeIterator<TranscriptInfo> eqiter = new EqualRangeIterator<TranscriptInfo>(iter2, new Comparator<TranscriptInfo>() {

                @Override
                public int compare(final TranscriptInfo o1, final TranscriptInfo o2) {
                    int i = o1.contig.compareTo(o2.contig);
                    if (i != 0)
                        return i;
                    i = o1.transcriptName.compareTo(o2.transcriptName);
                    return i;
                }
            });
            while (eqiter.hasNext()) {
                final List<TranscriptInfo> list = eqiter.next();
                final TranscriptInfo front = list.get(0);
                pw.println("# BEGIN TRANSCRIPT " + front.transcriptName + " ##########################################");
                pw.println("transcript.chrom <- \"" + front.contig + "\"");
                pw.println("transcript.txStart0 <- " + front.txStart + "");
                pw.println("transcript.txEnd0 <- " + front.txEnd + "");
                pw.println("transcript.name <- \"" + front.transcriptName + "\"");
                pw.println("transcript.strand <- \"" + ((char) front.strand) + "\"");
                pw.println("transcript.length <- " + front.transcriptLength + "");
                pw.println("transcript.exonCount <- " + front.exonCount + "");
                pw.println("archetype.name <- \"" + front.archetypeName + "\"");
                pw.println("archetype.length <- " + front.archetypeLength + "");
                pw.print("variants <- data.frame(chrom=c(");
                first = true;
                for (final TranscriptInfo v : list) {
                    if (!first)
                        pw.print(",");
                    pw.print("\"" + v.contig + "\"");
                    first = false;
                }
                pw.print("),chromStart=c(");
                first = true;
                for (final TranscriptInfo v : list) {
                    if (!first)
                        pw.print(",");
                    pw.print(v.ctxStart);
                    first = false;
                }
                pw.print("),chromEnd=c(");
                first = true;
                for (final TranscriptInfo v : list) {
                    if (!first)
                        pw.print(",");
                    pw.print(v.ctxStart + v.ref.length() - 1);
                    first = false;
                }
                pw.print("),refAllele=c(");
                first = true;
                for (final TranscriptInfo v : list) {
                    if (!first)
                        pw.print(",");
                    pw.print("\"" + v.ref.getDisplayString() + "\"");
                    first = false;
                }
                pw.print("),altAllele=c(");
                first = true;
                for (final TranscriptInfo v : list) {
                    if (!first)
                        pw.print(",");
                    pw.print("\"" + v.alt.getDisplayString() + "\"");
                    first = false;
                }
                pw.print("),positionInTranscript1=c(");
                first = true;
                for (final TranscriptInfo v : list) {
                    if (!first)
                        pw.print(",");
                    pw.print(v.indexInTranscript0 + 1);
                    first = false;
                }
                pw.print("),maf=c(");
                first = true;
                for (final TranscriptInfo v : list) {
                    if (!first)
                        pw.print(",");
                    pw.print(v.maf);
                    first = false;
                }
                pw.print("),overlapName=c(");
                first = true;
                for (final TranscriptInfo v : list) {
                    if (!first)
                        pw.print(",");
                    pw.print("\"" + v.overlapName + "\"");
                    first = false;
                }
                pw.println("))");
                pw.println("# genotypes as a list. Should be a multiple of length(samples).");
                pw.println("# 0 is homref (0/0), 1 is het (0/1), 2 is homvar (1/1)");
                pw.println("# if the variant contains another ALT allele: (0/2) and (2/2) are considered 0 (homref)");
                pw.print("genotypes <- c(");
                first = true;
                for (final TranscriptInfo tr : list) {
                    for (byte g : tr.genotypes) {
                        if (!first)
                            pw.print(",");
                        first = false;
                        pw.print((int) g);
                    }
                }
                pw.println(")");
                pw.println("stopifnot(NROW(variants) * NROW(population) == length(genotypes) )");
                if (this.userDefinedFunName == null || this.userDefinedFunName.trim().isEmpty()) {
                    pw.println("## WARNING not user-defined R function was defined");
                } else {
                    pw.println("# consumme data with user-defined R function ");
                    pw.println(this.userDefinedFunName + "()");
                }
                pw.println("# END TRANSCRIPT " + front.transcriptName + " ##########################################");
            }
            // end while eqiter
            eqiter.close();
            iter2.close();
            iter2 = null;
            sorting.cleanup();
            sorting = null;
        }
    } finally {
        CloserUtil.close(iter2);
        if (sorting != null)
            sorting.cleanup();
    }
}

Example 4 with KnownGene

use of com.github.lindenb.jvarkit.util.ucsc.KnownGene in project jvarkit by lindenb.

the class VCFPredictions method doVcfToVcf.

@Override
protected int doVcfToVcf(final String inputName, final VcfIterator r, VariantContextWriter w) {
    ReferenceContig genomicSequence = null;
    try {
        LOG.info("opening REF:" + this.referenceGenomeSource);
        this.referenceGenome = new ReferenceGenomeFactory().open(this.referenceGenomeSource);
        loadKnownGenesFromUri();
        final VCFHeader header = (VCFHeader) r.getHeader();
        final ContigNameConverter contigNameConverter = ContigNameConverter.fromOneDictionary(this.referenceGenome.getDictionary());
        contigNameConverter.setOnNotFound(OnNotFound.SKIP);
        final VCFHeader h2 = new VCFHeader(header);
        addMetaData(h2);
        switch(this.outputSyntax) {
            case Vep:
                {
                    h2.addMetaDataLine(new VCFInfoHeaderLine("CSQ", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Consequence type as predicted by VEP" + ". Format: Allele|Feature|Feature_type|Consequence|CDS_position|Protein_position|Amino_acids|Codons"));
                    break;
                }
            case SnpEff:
                {
                    h2.addMetaDataLine(new VCFInfoHeaderLine("ANN", VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Functional annotations: 'Allele | Annotation | Annotation_Impact | Gene_Name | Gene_ID | Feature_Type | Feature_ID | Transcript_BioType | Rank | HGVS.c | HGVS.p | cDNA.pos / cDNA.length | CDS.pos / CDS.length | AA.pos / AA.length | Distance | ERRORS / WARNINGS / INFO'"));
                    break;
                }
            default:
                {
                    final StringBuilder format = new StringBuilder();
                    for (FORMAT1 f : FORMAT1.values()) {
                        if (format.length() > 0)
                            format.append("|");
                        format.append(f.name());
                    }
                    h2.addMetaDataLine(new VCFInfoHeaderLine(TAG, VCFHeaderLineCount.UNBOUNDED, VCFHeaderLineType.String, "Prediction from " + getClass().getSimpleName() + ". Format: " + format));
                    break;
                }
        }
        w.writeHeader(h2);
        final SequenceOntologyTree soTree = SequenceOntologyTree.getInstance();
        final SequenceOntologyTree.Term so_intron = soTree.getTermByAcn("SO:0001627");
        final SequenceOntologyTree.Term so_exon = soTree.getTermByAcn("SO:0001791");
        final SequenceOntologyTree.Term so_splice_donor = soTree.getTermByAcn("SO:0001575");
        final SequenceOntologyTree.Term so_splice_acceptor = soTree.getTermByAcn("SO:0001574");
        final SequenceOntologyTree.Term so_5_prime_UTR_variant = soTree.getTermByAcn("SO:0001623");
        final SequenceOntologyTree.Term so_3_prime_UTR_variant = soTree.getTermByAcn("SO:0001624");
        final SequenceOntologyTree.Term so_splicing_variant = soTree.getTermByAcn("SO:0001568");
        final SequenceOntologyTree.Term so_stop_lost = soTree.getTermByAcn("SO:0001578");
        final SequenceOntologyTree.Term so_stop_gained = soTree.getTermByAcn("SO:0001587");
        final SequenceOntologyTree.Term so_coding_synonymous = soTree.getTermByAcn("SO:0001819");
        final SequenceOntologyTree.Term so_coding_non_synonymous = soTree.getTermByAcn("SO:0001583");
        final SequenceOntologyTree.Term so_intergenic = soTree.getTermByAcn("SO:0001628");
        final SequenceOntologyTree.Term so_nc_transcript_variant = soTree.getTermByAcn("SO:0001619");
        final SequenceOntologyTree.Term so_non_coding_exon_variant = soTree.getTermByAcn("SO:0001792");
        final SequenceOntologyTree.Term _2KB_upstream_variant = soTree.getTermByAcn("SO:0001636");
        final SequenceOntologyTree.Term _5KB_upstream_variant = soTree.getTermByAcn("SO:0001635");
        final SequenceOntologyTree.Term _5KB_downstream_variant = soTree.getTermByAcn("SO:0001633");
        final SequenceOntologyTree.Term _500bp_downstream_variant = soTree.getTermByAcn("SO:0001634");
        final SAMSequenceDictionaryProgress progress = new SAMSequenceDictionaryProgress(header);
        while (r.hasNext()) {
            final VariantContext ctx = progress.watch(r.next());
            final String normalizedContig = contigNameConverter.apply(ctx.getContig());
            final List<KnownGene> genes = new ArrayList<>();
            if (!StringUtil.isBlank(normalizedContig)) {
                for (final List<KnownGene> l2 : this.knownGenes.getOverlapping(new Interval(normalizedContig, ctx.getStart(), // 1-based
                ctx.getEnd()))) {
                    genes.addAll(l2);
                }
            }
            final List<Annotation> ctx_annotations = new ArrayList<Annotation>();
            if (genes == null || genes.isEmpty()) {
                // intergenic
                Annotation a = new Annotation();
                a.seqont.add(so_intergenic);
                ctx_annotations.add(a);
            } else {
                if (genomicSequence == null || !genomicSequence.hasName(normalizedContig)) {
                    LOG.info("getting genomic Sequence for " + normalizedContig);
                    genomicSequence = this.referenceGenome.getContig(normalizedContig);
                    if (genomicSequence == null)
                        throw new JvarkitException.ContigNotFoundInDictionary(normalizedContig, this.referenceGenome.getDictionary());
                }
                for (final KnownGene gene : genes) {
                    final GeneticCode geneticCode = GeneticCode.getStandard();
                    for (final Allele alt2 : ctx.getAlternateAlleles()) {
                        if (alt2.isNoCall())
                            continue;
                        if (alt2.isSymbolic()) {
                            LOG.warn("symbolic allele are not handled... " + alt2.getDisplayString());
                            continue;
                        }
                        if (alt2.isReference())
                            continue;
                        final Annotation annotations = new Annotation();
                        annotations.kg = gene;
                        annotations.alt2 = alt2;
                        if (gene.isNonCoding()) {
                            annotations.seqont.add(so_nc_transcript_variant);
                            continue;
                        }
                        ctx_annotations.add(annotations);
                        StringBuilder wildRNA = null;
                        ProteinCharSequence wildProt = null;
                        ProteinCharSequence mutProt = null;
                        MutedSequence mutRNA = null;
                        int position_in_cds = -1;
                        final int position = ctx.getStart() - 1;
                        if (!String.valueOf(genomicSequence.charAt(position)).equalsIgnoreCase(ctx.getReference().getBaseString())) {
                            if (isSimpleBase(ctx.getReference())) {
                                LOG.warn("Warning REF!=GENOMIC SEQ!!! at " + position + "/" + ctx.getReference());
                            }
                            continue;
                        }
                        if (gene.isPositiveStrand()) {
                            if (position < gene.getTxStart() - 2000) {
                                annotations.seqont.add(_5KB_upstream_variant);
                            } else if (position < gene.getTxStart()) {
                                annotations.seqont.add(_2KB_upstream_variant);
                            } else if (position >= gene.getTxEnd() + 500) {
                                annotations.seqont.add(_5KB_downstream_variant);
                            } else if (position >= gene.getTxEnd()) {
                                annotations.seqont.add(_500bp_downstream_variant);
                            } else if (position < gene.getCdsStart()) {
                                // UTR5
                                annotations.seqont.add(so_5_prime_UTR_variant);
                            } else if (gene.getCdsEnd() <= position) {
                                annotations.seqont.add(so_3_prime_UTR_variant);
                            } else {
                                int exon_index = 0;
                                while (exon_index < gene.getExonCount()) {
                                    final KnownGene.Exon exon = gene.getExon(exon_index);
                                    for (int i = exon.getStart(); i < exon.getEnd(); ++i) {
                                        if (i == position) {
                                            annotations.exon_name = exon.getName();
                                            if (exon.isNonCoding()) {
                                                annotations.seqont.add(so_non_coding_exon_variant);
                                            }
                                        }
                                        if (i < gene.getTxStart())
                                            continue;
                                        if (i < gene.getCdsStart())
                                            continue;
                                        if (i >= gene.getCdsEnd())
                                            break;
                                        if (wildRNA == null) {
                                            wildRNA = new StringBuilder();
                                            mutRNA = new MutedSequence(wildRNA);
                                        }
                                        if (i == position) {
                                            annotations.seqont.add(so_exon);
                                            annotations.exon_name = exon.getName();
                                            position_in_cds = wildRNA.length();
                                            annotations.position_cds = position_in_cds;
                                            // in splicing ?
                                            if (exon.isSplicing(position)) {
                                                if (exon.isSplicingAcceptor(position)) {
                                                    // SPLICING_ACCEPTOR
                                                    annotations.seqont.add(so_splice_acceptor);
                                                } else if (exon.isSplicingDonor(position)) {
                                                    // SPLICING_DONOR
                                                    annotations.seqont.add(so_splice_donor);
                                                } else // ??
                                                {
                                                    annotations.seqont.add(so_splicing_variant);
                                                }
                                            }
                                        }
                                        wildRNA.append(genomicSequence.charAt(i));
                                        if (i == position && isSimpleBase(alt2) && isSimpleBase(ctx.getReference())) {
                                            mutRNA.put(position_in_cds, alt2.getBaseString().charAt(0));
                                        }
                                        if (wildRNA.length() % 3 == 0 && wildRNA.length() > 0 && wildProt == null) {
                                            wildProt = new ProteinCharSequence(geneticCode, wildRNA);
                                            mutProt = new ProteinCharSequence(geneticCode, mutRNA);
                                        }
                                    }
                                    final KnownGene.Intron intron = exon.getNextIntron();
                                    if (intron != null && intron.contains(position)) {
                                        annotations.intron_name = intron.getName();
                                        annotations.seqont.add(so_intron);
                                        if (intron.isSplicing(position)) {
                                            if (intron.isSplicingAcceptor(position)) {
                                                annotations.seqont.add(so_splice_acceptor);
                                            } else if (intron.isSplicingDonor(position)) {
                                                annotations.seqont.add(so_splice_donor);
                                            } else // ???
                                            {
                                                annotations.seqont.add(so_splicing_variant);
                                            }
                                        }
                                    }
                                    ++exon_index;
                                }
                            }
                        } else // reverse orientation
                        {
                            if (position >= gene.getTxEnd() + 2000) {
                                annotations.seqont.add(_5KB_upstream_variant);
                            } else if (position >= gene.getTxEnd()) {
                                annotations.seqont.add(_2KB_upstream_variant);
                            } else if (position < gene.getTxStart() - 500) {
                                annotations.seqont.add(_5KB_downstream_variant);
                            } else if (position < gene.getTxStart()) {
                                annotations.seqont.add(_500bp_downstream_variant);
                            } else if (position < gene.getCdsStart()) {
                                annotations.seqont.add(so_3_prime_UTR_variant);
                            } else if (gene.getCdsEnd() <= position) {
                                annotations.seqont.add(so_5_prime_UTR_variant);
                            } else {
                                int exon_index = gene.getExonCount() - 1;
                                while (exon_index >= 0) {
                                    final KnownGene.Exon exon = gene.getExon(exon_index);
                                    for (int i = exon.getEnd() - 1; i >= exon.getStart(); --i) {
                                        if (i == position) {
                                            annotations.exon_name = exon.getName();
                                            if (exon.isNonCoding()) {
                                                annotations.seqont.add(so_non_coding_exon_variant);
                                            }
                                        }
                                        if (i >= gene.getCdsEnd())
                                            continue;
                                        if (i < gene.getCdsStart())
                                            break;
                                        if (wildRNA == null) {
                                            wildRNA = new StringBuilder();
                                            mutRNA = new MutedSequence(wildRNA);
                                        }
                                        if (i == position) {
                                            annotations.seqont.add(so_exon);
                                            position_in_cds = wildRNA.length();
                                            annotations.position_cds = position_in_cds;
                                            // in splicing ?
                                            if (exon.isSplicing(position)) {
                                                if (exon.isSplicingAcceptor(position)) {
                                                    annotations.seqont.add(so_splice_acceptor);
                                                } else if (exon.isSplicingDonor(position)) {
                                                    annotations.seqont.add(so_splice_donor);
                                                } else // ?
                                                {
                                                    annotations.seqont.add(so_splicing_variant);
                                                }
                                            }
                                            if (isSimpleBase(alt2) && isSimpleBase(ctx.getReference())) {
                                                mutRNA.put(position_in_cds, AcidNucleics.complement(alt2.getBaseString().charAt(0)));
                                            }
                                        }
                                        wildRNA.append(AcidNucleics.complement(genomicSequence.charAt(i)));
                                        if (wildRNA.length() % 3 == 0 && wildRNA.length() > 0 && wildProt == null) {
                                            wildProt = new ProteinCharSequence(geneticCode, wildRNA);
                                            mutProt = new ProteinCharSequence(geneticCode, mutRNA);
                                        }
                                    }
                                    final KnownGene.Intron intron = exon.getPrevIntron();
                                    if (intron != null && intron.contains(position)) {
                                        annotations.intron_name = intron.getName();
                                        annotations.seqont.add(so_intron);
                                        if (intron.isSplicing(position)) {
                                            if (intron.isSplicingAcceptor(position)) {
                                                annotations.seqont.add(so_splice_acceptor);
                                            } else if (intron.isSplicingDonor(position)) {
                                                annotations.seqont.add(so_splice_donor);
                                            } else // ?
                                            {
                                                annotations.seqont.add(so_splicing_variant);
                                            }
                                        }
                                    }
                                    --exon_index;
                                }
                            }
                        }
                        if (isSimpleBase(alt2) && isSimpleBase(ctx.getReference()) && wildProt != null && mutProt != null && position_in_cds >= 0) {
                            final int pos_aa = position_in_cds / 3;
                            final int mod = position_in_cds % 3;
                            annotations.wildCodon = ("" + wildRNA.charAt(position_in_cds - mod + 0) + wildRNA.charAt(position_in_cds - mod + 1) + wildRNA.charAt(position_in_cds - mod + 2));
                            annotations.mutCodon = ("" + mutRNA.charAt(position_in_cds - mod + 0) + mutRNA.charAt(position_in_cds - mod + 1) + mutRNA.charAt(position_in_cds - mod + 2));
                            annotations.position_protein = (pos_aa + 1);
                            annotations.wildAA = String.valueOf(wildProt.charAt(pos_aa));
                            annotations.mutAA = (String.valueOf(mutProt.charAt(pos_aa)));
                            annotations.seqont.remove(so_exon);
                            if (isStop(wildProt.charAt(pos_aa)) && !isStop(mutProt.charAt(pos_aa))) {
                                annotations.seqont.add(so_stop_lost);
                            } else if (!isStop(wildProt.charAt(pos_aa)) && isStop(mutProt.charAt(pos_aa))) {
                                annotations.seqont.add(so_stop_gained);
                            } else if (wildProt.charAt(pos_aa) == mutProt.charAt(pos_aa)) {
                                annotations.seqont.add(so_coding_synonymous);
                            } else {
                                annotations.seqont.add(so_coding_non_synonymous);
                            }
                        }
                    }
                }
            }
            final Set<String> info = new HashSet<String>(ctx_annotations.size());
            for (final Annotation a : ctx_annotations) {
                info.add(a.toString());
            }
            final VariantContextBuilder vb = new VariantContextBuilder(ctx);
            final String thetag;
            switch(this.outputSyntax) {
                case Vep:
                    thetag = "CSQ";
                    break;
                case SnpEff:
                    thetag = "ANN";
                    break;
                default:
                    thetag = TAG;
                    break;
            }
            vb.attribute(thetag, info.toArray());
            w.add(vb.make());
        }
        return RETURN_OK;
    } catch (Exception err) {
        LOG.error(err);
        return -1;
    } finally {
        CloserUtil.close(this.referenceGenome);
    }
}

Example 5 with KnownGene

use of com.github.lindenb.jvarkit.util.ucsc.KnownGene in project jvarkit by lindenb.

the class VCFPredictions method loadKnownGenesFromUri.

private void loadKnownGenesFromUri() throws IOException {
    BufferedReader in = null;
    try {
        if (this.referenceGenome.getDictionary() == null) {
            throw new JvarkitException.FastaDictionaryMissing(this.referenceGenomeSource);
        }
        int n_ignored = 0;
        int n_genes = 0;
        this.knownGenes = new IntervalTreeMap<>();
        LOG.info("loading genes");
        final ContigNameConverter contigNameConverter = ContigNameConverter.fromOneDictionary(this.referenceGenome.getDictionary());
        contigNameConverter.setOnNotFound(OnNotFound.SKIP);
        in = IOUtils.openURIForBufferedReading(this.kgURI);
        String line;
        final Pattern tab = Pattern.compile("[\t]");
        while ((line = in.readLine()) != null) {
            if (StringUtil.isBlank(line))
                continue;
            final String[] tokens = tab.split(line);
            final KnownGene g = new KnownGene(tokens);
            final String normalizedContig = contigNameConverter.apply(g.getContig());
            if (StringUtil.isBlank(normalizedContig)) {
                ++n_ignored;
                continue;
            }
            if (this.referenceGenome.getDictionary().getSequence(normalizedContig) == null) {
                ++n_ignored;
                continue;
            }
            // because we want to set
            final int extend_gene_search = 5000;
            // SO:5KB_upstream_variant
            final Interval interval = new Interval(normalizedContig, Math.max(1, g.getTxStart() + 1 - extend_gene_search), g.getTxEnd() + extend_gene_search);
            List<KnownGene> L = this.knownGenes.get(interval);
            if (L == null) {
                L = new ArrayList<>(2);
                this.knownGenes.put(interval, L);
            }
            ++n_genes;
            L.add(g);
        }
        in.close();
        in = null;
        LOG.info("genes:" + n_genes + " (ignored: " + n_ignored + ")");
    } finally {
        CloserUtil.close(in);
    }
}