0151d00a4a1d73a78c35f6158c6c936ff338faeb max Fri Apr 24 10:37:34 2026 -0700 NMD Escape: MANE subtrack, Rule 1 bug fix, transcript filter. refs #33737 - Add nmdEscMane subtrack (MANE Select Plus Clinical 1.5), built from /gbdb/hg38/mane/mane.bb. Reuses nmdEscTranscripts.html. - Fix Rule 1: measure 50 bp upstream of the transcript's last splice junction (including 3'UTR introns) rather than stripping 3'UTR from the exon list first. The old logic painted the entire last CDS exon as NMD-escape whenever the transcript had only one CDS exon, even when a 3'UTR intron sat far past the stop codon (e.g. NBDY: 207 bp of CDS over-painted for a junction 2.6 kb past the stop). - Add --rule1-mode {cds,mrna} (default cds): cds counts only CDS bp on the walk-back (paints up to 50 bp of CDS matching the rule label literally); mrna counts mRNA bp and clips to CDS (tracks the 55 bp rule literature). Documented in makeDoc. - Rule 4: when a 3'UTR intron exists, the last CDS-containing exon has a downstream EJC and is now eligible for the long-exon rule. - Mouseover lists contributing transcript accessions when 1-3 items collapse into a region; falls back to a count above that. - Add filterText/filterType/filterLabel on all three escape subtracks so a user can narrow the display to one transcript. - genePredNmdEsc: --gene-sym-field (default 17 for Gencode; pass 18 for MANE, whose HGNC symbol lives in bigGenePred geneName2). - Add findShortTxLongUtrIntron.py helper for finding MANE transcripts with long UTR introns (used to pick NMD edge-case test cases). Post-fix collapsed-region counts (--rule1-mode=cds): MANE 1.5: 67,752 Gencode V49: 233,375 RefSeq Curated: 112,356 diff --git src/hg/makeDb/trackDb/human/hg38/nmd.ra src/hg/makeDb/trackDb/human/hg38/nmd.ra index fb8bc855e66..b7a9dc837c3 100644 --- src/hg/makeDb/trackDb/human/hg38/nmd.ra +++ src/hg/makeDb/trackDb/human/hg38/nmd.ra @@ -1,91 +1,112 @@ track nmd shortLabel NMD Escape longLabel NMD Escape: Predicted regions where premature termination codons escape NMD group genes type bed 4 visibility hide superTrack on pennantIcon New red ../goldenPath/newsarch.html#042226 "Released Apr. 22, 2026" + track nmdEscMane + shortLabel NMD Escape MANE + longLabel NMD escape predictions: MANE Select Plus Clinical transcripts + parent nmd off + bigDataUrl /gbdb/hg38/nmd/nmdEscMane.bb + visibility hide + type bigBed 9 + + mouseOverField mouseover + html nmdEscTranscripts + filterText.transcripts * + filterType.transcripts wildcard + filterLabel.transcripts Filter on transcript ID (e.g. "*ENST00000269305*") + dataVersion MANE 1.5 + priority 1.4 + track nmdEscGencode shortLabel NMD Escape Gencode longLabel NMD escape predictions: Gencode transcripts parent nmd off bigDataUrl /gbdb/hg38/nmd/nmdEscRegions.bb visibility hide type bigBed 9 + mouseOverField mouseover html nmdEscTranscripts + filterText.transcripts * + filterType.transcripts wildcard + filterLabel.transcripts Filter on transcript ID (e.g. "*ENST00000269305*") # this could use a text file one day with the version dataVersion Gencode V49 priority 1.5 track nmdEscNcbiRefSeq shortLabel NMD Escape RefSeq longLabel NMD escape predictions: NCBI RefSeq Curated transcripts parent nmd on bigDataUrl /gbdb/hg38/nmd/nmdEscNcbiRefSeq.bb visibility pack type bigBed 9 + mouseOverField mouseover html nmdEscTranscripts + filterText.transcripts * + filterType.transcripts wildcard + filterLabel.transcripts FIlter on transcript ID (e.g. "NM_005228*") # this could use a text file one day with the version dataVersion GCF_000001405.40-RS_2025_08 priority 1.6 track nmdDetectiveA shortLabel NMDetective-A longLabel NMDetective-A: Random forest prediction of NMD efficiency (Lindeboom 2016) parent nmd off bigDataUrl /gbdb/hg38/nmd/NMDetectiveA.bw type bigWig visibility hide color 0,128,255 autoScale off viewLimits -1:1 maxHeightPixels 128:32:8 html nmdDetective priority 2 track nmdDetectiveB shortLabel NMDetective-B longLabel NMDetective-B: Decision tree prediction of NMD efficiency (Lindeboom 2016) parent nmd off bigDataUrl /gbdb/hg38/nmd/NMDetectiveB.bw type bigWig visibility hide color 0,128,255 autoScale off viewLimits -1:1 maxHeightPixels 128:32:8 html nmdDetective priority 3 track nmdDetectiveA_ptc shortLabel NMDetective-A PTC longLabel NMDetective-A: Random forest NMD efficiency for first out-of-frame PTC parent nmd off bigDataUrl /gbdb/hg38/nmd/nmdDectA-ptc.bw type bigWig visibility hide color 0,153,102 autoScale off viewLimits -1:1 maxHeightPixels 128:32:8 html nmdDetective priority 4 track nmdDetectiveB_ptc shortLabel NMDetective-B PTC longLabel NMDetective-B: Decision tree NMD efficiency for first out-of-frame PTC parent nmd off bigDataUrl /gbdb/hg38/nmd/nmdDectB-ptc.bw type bigWig visibility hide color 0,153,102 autoScale off viewLimits -1:1 maxHeightPixels 128:32:8 html nmdDetective priority 5