22fc293ddc00fce956d75fbcdb237e5d19d08fd5 max Thu Sep 3 14:39:29 2026 -0700 Three more Imprinting subtracks on hg38: Geneimprint, Akbari iDMRs, OMIM Geneimprint: the human catalog of imprinted and candidate imprinted genes from geneimprint.com, 274 genes. The catalog gives only a cytogenetic band, so symbols are resolved against the HGNC track, with fallbacks for small RNA clusters and for symbols HGNC has retired. Akbari iDMRs: the 192 imprinted differentially methylated regions that Akbari et al. 2023 (PMID 36777186) compiled from five genome-wide studies. Their published coordinates are 1-based inclusive, not bed, as their own PatMat reader shows, so the starts are shifted. OMIM: the 459 loci that OMIM curates as imprinted. That call is published only through GeneScout and is in no OMIM download file, so the input is a GeneScout export made by hand from a browser. OMIM phenotype entries, which are mapped disease regions up to 90 Mb rather than gene positions, are left out. Also unifies the color scheme across the collection, so vermillion always means the maternal copy, blue the paternal copy and gray no parent of origin, and relates the collection to the Human Methylation Atlas. refs #37599 diff --git src/hg/makeDb/scripts/imprinting/omimImprint.as src/hg/makeDb/scripts/imprinting/omimImprint.as new file mode 100644 index 00000000000..16d84241460 --- /dev/null +++ src/hg/makeDb/scripts/imprinting/omimImprint.as @@ -0,0 +1,19 @@ +table omimImprint +"Genes curated as imprinted by OMIM, from a GeneScout export" + ( + string chrom; "Chromosome (or contig, scaffold, etc.)" + uint chromStart; "Start position in chromosome" + uint chromEnd; "End position in chromosome" + string name; "Gene symbol" + uint score; "Score (unused, always 0)" + char[1] strand; "Strand, not given by OMIM, always ." + uint thickStart; "Start of thick display" + uint thickEnd; "End of thick display" + uint reserved; "Color, neutral gray, see the description page" + string mimNumber; "MIM Number|OMIM identifier of the gene entry, empty when the gene has none" + string cytoLocation; "Cytogenetic Location|Band as given by OMIM" + lstring geneName; "Gene Name|Full gene name" + string entryType; "Entry Type|Whether OMIM has a gene entry for this locus" + lstring phenotypes; "Phenotypes|OMIM phenotypes listed alongside this gene in the export" + lstring inheritance; "Inheritance|Mode of inheritance of those phenotypes" + )