3a62ea7e9a8cb3503586a0a78570331308c9bc58 max Mon Apr 27 02:23:00 2026 -0700 NMD Escape MANE: expose NM_ accession via labelFields. refs #33737 Per QA, the MANE subtrack now shows the NCBI RefSeq accession by default instead of the HGNC gene symbol, with the ENST and gene symbol still selectable via labelFields. - genePredNmdEsc: new --ncbi-id-field N option (default -1 = unused). When set, the named bigGenePred column is captured per-transcript and written into a new ncbiIds output column. For MANE pass 21. - genePredNmdEsc: new --no-collapse option. By default, regions with identical (chrom, start, end, rule) from multiple transcripts collapse into one row with comma-separated lists. With --no-collapse the script emits one row per (transcript, region). Used for MANE so each label-field column holds a single value: the 74 MANE Plus Clinical genes (e.g. LMNA) get two rows per region instead of one row with a two-element list. - nmdEscCollapsed.as: add lstring ncbiIds column. Schema is now bed9+3. - nmd.ra (nmdEscMane only): labelFields ncbiIds,name,transcripts; defaultLabelFields ncbiIds; labelSeparator " / ". Gencode and RefSeq subtracks unchanged - they default to the gene symbol (name column) and have an empty ncbiIds column. - doc/hg38/nmd.txt: bump all three bedToBigBed invocations to bed9+3 and document the --ncbi-id-field 21 + --no-collapse invocation for MANE. Counts: MANE 68,028 (--no-collapse); Gencode 233,375; RefSeq 112,356. diff --git src/hg/makeDb/trackDb/human/hg38/nmd.ra src/hg/makeDb/trackDb/human/hg38/nmd.ra index b7a9dc837c3..e6832f3c69f 100644 --- src/hg/makeDb/trackDb/human/hg38/nmd.ra +++ src/hg/makeDb/trackDb/human/hg38/nmd.ra @@ -1,112 +1,118 @@ 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 + labelFields ncbiIds,name,transcripts + defaultLabelFields ncbiIds + labelSeparator " / " filterText.transcripts * filterType.transcripts wildcard - filterLabel.transcripts Filter on transcript ID (e.g. "*ENST00000269305*") + filterLabel.transcripts Gencode accession (e.g. "*ENST00000269305*") + filterText.ncbiIds * + filterType.ncbiIds wildcard + filterLabel.ncbiIds RefSeq accession (e.g. "*NM_000546*") 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