4bd316f5f1ca47328bd3f9a181214b788055f0bc lrnassar Tue Apr 21 13:29:26 2026 -0700 NMD Escape QA round 3: switch RefSeq to curated, fix Rule 2 misclassification. refs #33737 Switched the NMD Escape RefSeq subtrack input from hg38.ncbiRefSeq.txt.gz (all) to hg38.ncbiRefSeqCurated.txt.gz (NM_/NR_ only, no XM_/XR_ predicted models) per Max's feedback. longLabel updated to "NCBI RefSeq Curated transcripts". Fixed Rule 2 in genePredNmdEsc to test rec["exonCount"]==1 instead of len(cdsExons)==1. The old test misclassified multi-exon transcripts with a single CDS exon (UTR introns) as "intronless" and silently suppressed their Rule 1/3/4 assignments via the if/else short-circuit. 3,253 RefSeq curated and ~2,000 Gencode transcripts reassigned from Rule 2 to Rules 1/3. Rebuilt both tracks. Added Rule 1 caveat to nmdEscTranscripts.html for transcripts with a penultimate coding exon shorter than 50 bp. Added reciprocal relatedTracks.ra entries for nmd <-> mane and nmd <-> ncbiRefSeq. QA cleanups: non-ASCII prime char replaced with ′, mailing list links given target="_blank" across all three HTML pages, dead commented nmdGencode block removed from nmd.ra, AutoSQL field comments updated to cover Rule 4 color and the gene-symbol-to-transcript-ID fallback. Makedoc updated with the full Gencode + RefSeq pipeline and /gbdb symlinks. diff --git src/hg/makeDb/scripts/nmd/genePredNmdEsc src/hg/makeDb/scripts/nmd/genePredNmdEsc index 12faa973367..d8b3e005c4d 100755 --- src/hg/makeDb/scripts/nmd/genePredNmdEsc +++ src/hg/makeDb/scripts/nmd/genePredNmdEsc @@ -212,32 +212,32 @@ if (exStart <= cdsEnd and cdsEnd <= exEnd): exEnd = cdsEnd # skip degenerate cdsExons (CDS boundary lands exactly on exon boundary) if exStart >= exEnd: continue cdsExons.append( (exStart, exEnd) ) def addRegions(regions, rule): for r in regions: key = (r[0], r[1], r[2], rule) regionData[key]["transcripts"].append(name) regionData[key]["strands"].add(strand) if geneSym and not regionData[key]["geneSym"]: regionData[key]["geneSym"] = geneSym - if len(cdsExons)==1: - # rule 2: intronless transcript + if rec["exonCount"] == 1: + # rule 2: truly intronless transcript (no splicing, no EJCs deposited) bed = [chrom, str(cdsStart), str(cdsEnd), name] bedOut(bed, txStart, txEnd, decoOfh, 2) addRegions([(chrom, cdsStart, cdsEnd)], 2) else: if strand=="+": # rule 3: first 100bp of coding nucleotides regions = outputExonsUpTo(False, cdsExons, chrom, txStart, txEnd, name, 100, decoOfh, 3) addRegions(regions, 3) # rule 1: last 50bp of last coding junction regions = outputExonsUpTo(True, cdsExons, chrom, txStart, txEnd, name, -50, decoOfh, 1) addRegions(regions, 1) # rule 4: coding exons >400 nt (excluding last; last is already covered by rule 1) rule4Exons = cdsExons[:-1] else: # rule 3: first 100bp of coding nucleotides