99db113e49bd1dd42a3040eaed1e61188a117ecf max Wed May 13 05:44:18 2026 -0700 mucins: new locus-specific mucin VNTR/non-VNTR exon track on hs1 (alpha) Adds a new 'Locus-specific' container in the genes group with two bigGenePred subtracks (mucinsVntr, mucinsNonVntr) derived from Plender et al. 2024 supplementary table 2. The .ra and HTML files live under trackDb/human/ so future locus-specific tracks can share them; hs1 picks them up via include ../mucins.ra alpha. refs #37540 diff --git src/hg/makeDb/doc/hs1/mucins.txt src/hg/makeDb/doc/hs1/mucins.txt new file mode 100644 index 00000000000..87ec128c3be --- /dev/null +++ src/hg/makeDb/doc/hs1/mucins.txt @@ -0,0 +1,36 @@ +# 2026-05-12 Claude (mhaeussl) +# Locus-specific mucin gene VNTR and non-VNTR exons on T2T-CHM13 (hs1). +# Source: Plender et al. 2024 (PMID 38991590), supplementary table 2, +# placed locally as supp2_exons.txt in the working directory. + +cd /hive/data/genomes/hs1/locusSpec/mucins + +# supp2_exons.txt is the original tab-separated input. Columns: +# gene transcript exon chr start stop size strand VNTR_status +# Coordinates are 0-based half-open. The file has CRLF line endings. + +# Convert to two bigGenePred-formatted bed files (VNTR vs non-VNTR), then +# sort and build bigBed. The script is in +# ~/kent/src/hg/makeDb/scripts/mucins/mucinsToBigGenePred.py and skips +# rows whose end exceeds the chromosome length, with a warning. + +python3 ~/kent/src/hg/makeDb/scripts/mucins/mucinsToBigGenePred.py \ + supp2_exons.txt \ + --out-vntr mucinsVntr.unsorted.bgp \ + --out-non-vntr mucinsNonVntr.unsorted.bgp \ + --chrom-sizes /hive/data/genomes/hs1/chrom.sizes + +sort -k1,1 -k2,2n mucinsVntr.unsorted.bgp > mucinsVntr.bgp +sort -k1,1 -k2,2n mucinsNonVntr.unsorted.bgp > mucinsNonVntr.bgp +rm mucinsVntr.unsorted.bgp mucinsNonVntr.unsorted.bgp + +bedToBigBed -type=bed12+8 -tab \ + -as=$HOME/kent/src/hg/lib/bigGenePred.as \ + mucinsVntr.bgp /hive/data/genomes/hs1/chrom.sizes mucinsVntr.bb +bedToBigBed -type=bed12+8 -tab \ + -as=$HOME/kent/src/hg/lib/bigGenePred.as \ + mucinsNonVntr.bgp /hive/data/genomes/hs1/chrom.sizes mucinsNonVntr.bb + +# Resulting feature counts: 12 VNTR exons (one per mucin transcript that +# has a VNTR exon; MUC16 and MUC7 do not) and 335 non-VNTR exons across +# 14 mucin transcripts. Total 347 input rows = 347 output features.