be4311c07e14feb728abc6425ee606ffaa611a58 markd Fri Jan 22 06:46:58 2021 -0800 merge with master diff --git src/hg/utils/gencodeGeneSymVerTx/gencodeGeneSymVerTx.c src/hg/utils/gencodeGeneSymVerTx/gencodeGeneSymVerTx.c new file mode 100644 index 0000000..39595af --- /dev/null +++ src/hg/utils/gencodeGeneSymVerTx/gencodeGeneSymVerTx.c @@ -0,0 +1,456 @@ +/* gencodeGeneSymVerTx - Create a tab separated file with gene ID/symbol/best transcript mapping for many + * version of gencode.. */ +#include "common.h" +#include "linefile.h" +#include "hash.h" +#include "options.h" +#include "fieldedTable.h" +#include "genePred.h" +#include "jksql.h" + +void usage() +/* Explain usage and exit. */ +{ +errAbort( + "gencodeGeneSymVerTx - Create a tab separated file with gene ID/symbol/best transcript mapping \n" + "for many version of gencode. Internal to UCSC - depends on local directory structures.\n" + " /hive/data/genomes/hg*/bed/gencodeV17/data/gencode.tsv\n" + "Needs to contain exactly the files we need for input. Also this will poll the refGene table\n" + "usage:\n" + " gencodeGeneSymVerTx input.list\toutput.tsv\n" + "where input.lst is files to be run on. The file names are parsed and should be\n" + "of the form:\n" + " /hive/data/genomes/hg*/bed/gencodeV17/data/gencode.tsv\n" + "and there needs to be a gencode.gp in same dir\n" + "options:\n" + " -xxx=XXX\n" + ); +} + +/* Command line validation table. */ +static struct optionSpec options[] = { + {NULL, 0}, +}; + +struct transcript +/* Collects info for a single transcript */ + { + struct transcript *next; + char *name; /* ENST000... */ + char *status; + char *type; + struct slName *tags; + struct genePred *gp; + }; + +struct gene +/* Collects info from multiple transcripts */ + { + struct gene *next; + char *name; /* ENSG000... */ + char *symbol; /* HUGO name */ + struct transcript *txList; /* List of transcripts */ + struct transcript *bestTx; /* Best transcript */ + }; + +struct version +/* One record per gencode version */ + { + struct version *next; /* Next in list */ + char *name; /* gencodeV19 gencodeV34 etc */ + char *metaName; /* Full path to gencode.tsv file if any*/ + char *genePredName; /* Full path to gencode.gp file if any */ + char *ucscDb; /* hg19, hg38, etc */ + struct gene *geneList; /* List of genes */ + struct hash *gpHash; /* Hash of genePredictions keyed by transcript ID */ + }; + +int scoreGencodeTx(struct transcript *tx) +/* Return a score for transcripts, higher is better. Weights are ad hoc fit to data */ +{ +int score = 0; +struct slName *tag; +for (tag = tx->tags; tag != NULL; tag = tag->next) + { + char *name = tag->name; + if (sameString("appris_principal", name)) + score += 30000; + if (sameString("appris_principal_1", name)) + score += 30000; + else if (startsWith("appris_principal", name)) + score += 15000; + else if (sameString("appris_candidate_highest_score", name)) + score += 20000; + else if (sameString("appris_candidate_longest_ccds", name)) + score += 15100; + else if (sameString("appris_candidate_longest", name)) + score += 15000; + else if (sameString("appris_candidate_longest_seq", name)) + score += 15000; + else if (sameString("appris_candidate_ccds", name)) + score += 14000; + else if (sameString("appris_candidate", name)) + score += 10000; + else if (startsWith("appris_alternative", name)) + score += 0; + else if (startsWith("appris_", name)) + errAbort("Unknown appris %s", name); + else if (sameString("CCDS", name)) + score += 3000; + } +char *status = tx->status; +if (sameString("KNOWN", status)) + score += 300; +else if (sameString("NOVEL", status)) + score += 200; + +char *type = tx->type; +if (sameString("protein_coding", type)) + score += 300; +else if (sameString("antisense", type)) + score -= 100; +else if (sameString("sense_intronic", type)) + score -= 100; +else if (endsWith("pseudogene", type)) + score -= 1000; +return score; +} + +struct slName *parseTags(struct hash *tagHash, char *tagString) +/* Parse tagString to reveal string list. */ +{ +struct slName *tagList = slNameListFromString(tagString, ','); +struct slName *tag; +for (tag = tagList; tag != NULL; tag = tag->next) + hashIncInt(tagHash, tag->name); +return tagList; +} + +struct hash *hashGenePredList(struct genePred *gpList) +/* Load a hash up with gene preds keyed by name */ +{ +struct hash *hash = hashNew(0); +struct genePred *gp; +for (gp = gpList; gp != NULL; gp = gp->next) + hashAdd(hash, gp->name, gp); +return hash; +} + +struct hash *hashGenePredFile(char *fileName) +/* Load in a genepred into a hash keyed by name */ +{ +struct genePred *gpList = genePredLoadAll(fileName); +return hashGenePredList(gpList); +} + +struct gene *geneNew(char *name, char *symbol, struct hash *geneHash) +/* Make a new nearly empty gene structure */ +{ +struct gene *gene; +struct lm *lm = geneHash->lm; +lmAllocVar(lm, gene); +gene->symbol = lmCloneString(lm, symbol); +hashAddSaveName(geneHash, name, gene, &gene->name); +return gene; +} + +struct transcript *transcriptNew(char *name) +/* Make a new nearly empty transcript */ +{ +struct transcript *tx; +AllocVar(tx); +tx->name = cloneString(name); +return tx; +} + + +struct gene *makeGencodeGeneList(struct version *v) +/* makeGencodeGeneList - Create a table that links gene with a canonical transcript to + * represent the gene for a particular version of gencode. */ +{ +char *metaIn = v->metaName; + +/* Read in table and set up indexes into required fields */ +static char *required[] = {"geneId", "geneName", "transcriptId", "tags", + "transcriptStatus", "transcriptType"}; +struct fieldedTable *table = fieldedTableFromTabFile(metaIn, metaIn, required, ArraySize(required)); +verbose(1, "Read %s with %d rows and %d fields\n", metaIn, table->rowCount, table->fieldCount); +int geneIx = fieldedTableFindFieldIx(table, "geneId"); +int geneNameIx = fieldedTableFindFieldIx(table, "geneName"); +int transcriptIx = fieldedTableFindFieldIx(table, "transcriptId"); +int tagsIx = fieldedTableFindFieldIx(table, "tags"); +int statusIx = fieldedTableFindFieldIx(table, "transcriptStatus"); +int typeIx = fieldedTableFindFieldIx(table, "transcriptType"); + +struct hash *statusHash = hashNew(0); // Null val uniqueness cache for status +struct hash *typeHash = hashNew(0); // Null val uniqueness cache for type +struct hash *tagHash = hashNew(0); // Null val uniqueness cache for tag +struct hash *txHash = hashNew(0); // Null val uniqueness cache for transcripts + +struct hash *geneHash = hashNew(0); // gene valued +struct gene *geneList = NULL; + +/* Scan through table building up transcripts and genes. */ +struct fieldedRow *fr; +for (fr = table->rowList; fr != NULL; fr = fr->next) + { + char **row = fr->row; + char *geneName = row[geneIx]; + struct gene *gene = hashFindVal(geneHash, geneName); + if (gene == NULL) + { + gene = geneNew(geneName, row[geneNameIx], geneHash); + slAddHead(&geneList, gene); + } + struct transcript *tx = transcriptNew(row[transcriptIx]); + tx->status = hashStoreName(statusHash, row[statusIx]); + tx->type = hashStoreName(typeHash,row[typeIx]); + tx->tags = parseTags(tagHash, row[tagsIx]); + slAddHead(&gene->txList, tx); + } +slReverse(&geneList); +verbose(2, "Have %d genes, %d transcripts, %d status, %d type, %d tags\n", + geneHash->elCount, txHash->elCount, statusHash->elCount, typeHash->elCount, tagHash->elCount); + +/* Find best for each gene */ +struct gene *gene; +for (gene = geneList; gene != NULL; gene = gene->next) + { + slReverse(&gene->txList); + struct transcript *bestTx = NULL, *tx = NULL; + int bestScore = -BIGNUM; + for (tx = gene->txList; tx != NULL; tx = tx->next) + { + int score = scoreGencodeTx(tx); + if (score > bestScore) + { + bestScore = score; + bestTx = tx; + } + } + gene->bestTx = bestTx; + } +verbose(2, "Found best genes\n"); +return geneList; +} + +int scoreRefSeqTx(struct transcript *tx) +/* Return a score for transcripts, higher is better. Weights are ad hoc fit to data */ +{ +char *name = tx->name; +int score = 0; +if (startsWith("NM_", name)) + score += 9000; +else if (startsWith("NR_", name)) + score += 8000; +else if (startsWith("NP_", name)) + score += 7000; +struct genePred *gp = tx->gp; +if (gp->cdsStart < gp->cdsEnd) + score += 600; + +/* Favor mappings to real chromosomes */ +score += 90 - strlen(gp->chrom); +return score; +} + +struct transcript *findBestRefTx(struct transcript *txList) +/* Return best looking transcript in list assuming it's a refSeq thing */ +{ +struct transcript *tx; +int bestScore = -BIGNUM; +struct transcript *bestTx = NULL; + +for (tx = txList; tx != NULL; tx = tx->next) + { + int score = scoreRefSeqTx(tx); + if (score > bestScore) + { + bestScore = score; + bestTx = tx; + } + } +return bestTx; +} + + +struct gene *makeRefGeneList(struct version *v, struct genePred *gpList) +/* We turn genePred format list of transcripts into list of genes by fusing on + * name2 field */ +{ +struct hash *geneHash = hashNew(0); +struct genePred *gp; +struct gene *geneList = NULL; + +for (gp = gpList; gp != NULL; gp = gp->next) + { + char *name = gp->name2; + struct gene *gene = hashFindVal(geneHash, name); + if (gene == NULL) + { + gene = geneNew(name, name, geneHash); + slAddHead(&geneList, gene); + } + struct transcript *tx = transcriptNew(gp->name); + tx->gp = gp; + slAddHead(&gene->txList, tx); + } + +/* Now go through trying to make best transcript for the gene */ +struct gene *gene; +for (gene = geneList; gene != NULL; gene = gene->next) + { + slReverse(&gene->txList); + gene->bestTx = findBestRefTx(gene->txList); + gene->name = cloneString(gene->bestTx->name); + } +return geneList; +} + + +struct version *versionsFromFile(char *input) +// Read in input file which is a list of things like +// /hive/data/genomes/hg*/bed/gencodeV17/data/gencode.tsv +// and return a list of versions */ +{ +struct lineFile *lf = lineFileOpen(input, TRUE); +char *line; +struct version *list = NULL, *v; +while (lineFileNextReal(lf, &line)) + { + line = trimSpaces(line); + if (!fileExists(line)) + errAbort("%s in %s doesn't exist", line, input); + AllocVar(v); + if ((v->name = stringBetween("/bed/", "/data/", line)) == NULL) + errAbort("Couldn't parse gencode version from %s", line); + if ((v->ucscDb = stringBetween("/genomes/", "/bed/", line)) == NULL) + errAbort("Couldn't parse ucscDb version from %s", line); + v->metaName = cloneString(line); + + /* Make .gp file name from metaName*/ + char buf[PATH_LEN]; + chopSuffix(line); + safef(buf, sizeof(buf), "%s.gp", line); + v->genePredName = cloneString(buf); + slAddHead(&list, v); + } +slReverse(&list); +return list; +} + +struct genePred *gpLoadAllFromTable(char *db, char *table) +/* Connect to database and load all genePreds from table */ +{ +struct genePred *list = NULL; +struct sqlConnection *conn = sqlConnect(db); +char query[512]; +sqlSafef(query, sizeof(query), "select * from %s", table); +struct sqlResult *sr = sqlGetResult(conn, query); +char **row; +while ((row = sqlNextRow(sr)) != NULL) + { + struct genePred *gp = genePredKnownLoad(row+1, 12); // Skip bin + slAddHead(&list, gp); + } +slReverse(&list); +sqlFreeResult(&sr); +sqlDisconnect(&conn); +return list; +} + +struct version *refSeqVersions() +/* Return list of refSeq versions, just from hg19 or hg38 for now */ +{ +char *targets[] = {"hg19", "hg38"}; +int targetCount = ArraySize(targets); +struct version *list = NULL; +int i; +for (i=0; i<targetCount; ++i) + { + char *db = targets[i]; + struct version *v; + AllocVar(v); + v->name = "refGene"; + v->ucscDb = db; + struct genePred *gpList = gpLoadAllFromTable(db, v->name); + v->geneList = makeRefGeneList(v, gpList); + v->gpHash = hashGenePredList(gpList); + verbose(1, "refSeq %s %d transcripts into %d genes\n", db, slCount(gpList), slCount(v->geneList)); + slAddHead(&list, v); + } +return list; +} + +void gencodeGeneSymVerTx(char *input, char *output) +/* gencodeGeneSymVerTx - Create a tab separated file with gene ID/symbol/best transcript + * mapping for many version of gencode. */ +{ +/* Read in refSeq */ +struct version *refSeqVersionList = refSeqVersions(); +verbose(1, "refSeq %d versions\n", slCount(refSeqVersionList)); + +struct version *v, *versionList = versionsFromFile(input); +verbose(1, "Gencode %d versions\n", slCount(versionList)); + +/* Read in all gencode from file from output. */ +for (v = versionList; v != NULL; v = v->next) + { + v->geneList = makeGencodeGeneList(v); + v->gpHash = hashGenePredFile(v->genePredName); + } + +versionList = slCat(refSeqVersionList, versionList); + +/* Now make output */ +FILE *f = mustOpen(output, "w"); +fprintf(f, "#gene\tsymbol\tgencodeVersion\tucscDb\tchrom\tchromStart\tchromEnd\ttranscript\tscore\tstrand\tthickStart\tthickEnd\titemRgb\tblockCount\tblockSizes\tblockStarts\n"); +for (v = versionList; v != NULL; v = v->next) + { + struct gene *gene; + for (gene = v->geneList; gene != NULL; gene = gene->next) + { + struct genePred *gp = hashFindVal(v->gpHash, gene->bestTx->name); + if (gp != NULL) + { + fprintf(f, "%s\t%s\t%s\t%s\t", + gene->name, gene->symbol, v->name, v->ucscDb); + /* Print scalar bed fields. */ + fprintf(f, "%s\t", gp->chrom); + fprintf(f, "%u\t", gp->txStart); + fprintf(f, "%u\t", gp->txEnd); + fprintf(f, "%s\t", gene->bestTx->name); + fprintf(f, "%u\t", 0); + fprintf(f, "%s\t", gp->strand); + fprintf(f, "%u\t", gp->cdsStart); + fprintf(f, "%u\t", gp->cdsEnd); + fprintf(f, "%u\t", 0); + fprintf(f, "%u\t", gp->exonCount); + + /* Print exon-by-exon fields. */ + int i; + + /* Print exon sizes */ + for (i=0; i<gp->exonCount; ++i) + fprintf(f, "%u,", gp->exonEnds[i] - gp->exonStarts[i]); + fprintf(f, "\t"); + + /* Print exons starts */ + for (i=0; i<gp->exonCount; ++i) + fprintf(f, "%u,", gp->exonStarts[i] - gp->txStart); + fprintf(f, "\n"); + } + } + } +carefulClose(&f); +} + +int main(int argc, char *argv[]) +/* Process command line. */ +{ +optionInit(&argc, argv, options); +if (argc != 3) + usage(); +gencodeGeneSymVerTx(argv[1], argv[2]); +return 0; +}