7dae59171ebf9d462438202cc85ae434e8080fe8 max Tue Apr 28 06:30:43 2026 -0700 NMD Escape MANE: dedicated .as for cleaner labelFields dropdown. refs #33737 The MANE bigBed now ships with its own autoSql, so the labelFields dropdown in the track config shows "Gene Symbol", "Gencode Accession (ENST)" and "RefSeq Accession (NM_/NR_)" - the descriptions QA asked for. The shared nmdEscCollapsed.as keeps its generic wording for the Gencode and RefSeq subtracks, where the "transcripts" column holds different accession families and a single hard-coded label would not fit both. diff --git src/hg/makeDb/doc/hg38/nmd.txt src/hg/makeDb/doc/hg38/nmd.txt index 691e42ca0f7..f7f5d65e39c 100644 --- src/hg/makeDb/doc/hg38/nmd.txt +++ src/hg/makeDb/doc/hg38/nmd.txt @@ -83,32 +83,36 @@ mkdir -p /hive/data/genomes/hg38/bed/nmd/mane && cd /hive/data/genomes/hg38/bed/nmd/mane # --ncbi-id-field 21 puts the NCBI RefSeq accession (NM_/NR_) into the # collapsed bigBed's ncbiIds column so the trackDb stanza can offer NM_ as # the default label via labelFields/defaultLabelFields. # --no-collapse emits one row per (transcript, region). MANE Select gives # one transcript per gene; MANE Plus Clinical adds a second transcript for # 74 genes (e.g. LMNA). Keeping rows per-transcript means each label-field # column holds a single value, which renders cleaner than a comma list. ~/kent/src/hg/makeDb/scripts/nmd/genePredNmdEsc -f bigGenePred --gene-sym-field 18 \ --ncbi-id-field 21 --no-collapse \ /gbdb/hg38/mane/mane.bb \ nmdManeDeco.bed nmdEscMane.bed bedSort nmdEscMane.bed nmdEscMane.bed +# MANE uses its own .as so the labelFields dropdown shows clean column +# labels ("Gene Symbol" / "Gencode Accession (ENST)" / "RefSeq Accession +# (NM_/NR_)") that wouldn't fit the Gencode/RefSeq tracks (whose +# "transcripts" column holds different accession types). bedToBigBed nmdEscMane.bed ../../../chrom.sizes nmdEscMane.bb \ - -tab -type=bed9+3 -as=${HOME}/kent/src/hg/makeDb/scripts/nmd/nmdEscCollapsed.as + -tab -type=bed9+3 -as=${HOME}/kent/src/hg/makeDb/scripts/nmd/nmdEscManeCollapsed.as ln -sf /hive/data/genomes/hg38/bed/nmd/mane/nmdEscMane.bb /gbdb/hg38/nmd/nmdEscMane.bb # Collapsed-region counts (current script, no Rule 1/4 algorithmic fix): # MANE 1.5: 68,345 # Gencode V49: 233,929 # RefSeq Curated: 112,903 # 2026-04-24 max: Fixed Rule 1 to measure 50 bp upstream of the last splice # junction of the transcript (including 3'UTR introns), not the last CDS-CDS # junction; output regions are clipped to CDS. The old logic stripped 3'UTR # from the exon list before computing the "last coding junction", which # over-painted the last CDS exon as NMD-escape whenever there was only one # CDS exon, even when a 3'UTR intron sat far downstream (e.g. NBDY: the # entire 207 bp CDS was painted Rule 1 despite the last junction being