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/akbariIdmr.as src/hg/makeDb/scripts/imprinting/akbariIdmr.as new file mode 100644 index 00000000000..27443d11245 --- /dev/null +++ src/hg/makeDb/scripts/imprinting/akbariIdmr.as @@ -0,0 +1,24 @@ +table akbariIdmr +"Imprinted differentially methylated regions compiled by Akbari et al. 2023" + ( + string chrom; "Chromosome (or contig, scaffold, etc.)" + uint chromStart; "Start position in chromosome" + uint chromEnd; "End position in chromosome" + string name; "Genes at or near the region" + uint score; "Score (unused, always 0)" + char[1] strand; "Strand, not applicable, always ." + uint thickStart; "Start of thick display" + uint thickEnd; "End of thick display" + uint reserved; "Color, set from the methylated allele" + string methylatedAllele; "Methylated Allele|Parental copy that carries the methylation, so the silenced one" + string gene; "First Gene|First gene listed for this region, used as the short label" + string studies; "Source Studies|Earlier genome-wide studies that reported this region" + uint studyCount; "Number of Studies|How many of the five source studies reported this region" + string evidence; "Evidence|Reported by several studies, or by one study and confirmed against public methylomes" + string indivExamined; "Individuals Examined|Blood methylomes in which the region could be tested" + string indivPartialMeth; "Individuals Partially Methylated|Of those, how many showed partial methylation" + string pctIndivPartialMeth; "Percent Individuals|Percent of testable individuals with partial methylation" + string tissuesExamined; "Tissues Examined|Tissue methylomes in which the region could be tested" + string tissuesPartialMeth; "Tissues Partially Methylated|Of those, how many showed partial methylation" + string pctTissuesPartialMeth; "Percent Tissues|Percent of testable tissues with partial methylation" + )