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/geneimprint.as src/hg/makeDb/scripts/imprinting/geneimprint.as new file mode 100644 index 00000000000..381f67174f3 --- /dev/null +++ src/hg/makeDb/scripts/imprinting/geneimprint.as @@ -0,0 +1,22 @@ +table geneimprint +"Geneimprint catalog of imprinted and candidate imprinted genes, symbols resolved to hg38 coordinates" + ( + string chrom; "Chromosome (or contig, scaffold, etc.)" + uint chromStart; "Start position in chromosome" + uint chromEnd; "End position in chromosome" + string name; "Gene name in the Geneimprint catalog" + uint score; "Score (unused, always 0)" + char[1] strand; "+ or - for strand" + uint thickStart; "Start of thick display" + uint thickEnd; "End of thick display" + uint reserved; "Color, set from the expressed allele" + string status; "Imprint Status|Evidence level assigned by Geneimprint" + string expressedAllele; "Expressed Allele|Parental copy that is expressed" + lstring aliases; "Aliases|Other names for this gene, as listed by Geneimprint" + string catalogBand; "Catalog Band|Cytogenetic band as given by Geneimprint" + string hgncSymbol; "Resolved Symbol|Approved symbol of the locus the coordinates come from" + string hgncId; "HGNC ID|Identifier of the resolved locus, empty if resolved through RefSeq" + lstring geneName; "Gene Description|Full name of the resolved locus" + string locusType; "Locus Type|Kind of locus, e.g. protein coding or small nucleolar RNA" + string resolvedBy; "Resolved By|Which name matched: current symbol, previous symbol, alias, small RNA cluster or RefSeq" + )