Visualization of regulatory element with DNMs in transcripts


Visualization of de novo variants in transcripts


Visualization of original de novo CNV set
   There is no corresponding data published yet, we will update it when such data available.
Transcripts
Transcript ID Transcript exon region Coding exon region
ENST00000381249 [[18735988, 18737074], [18741445, 18741946]] [[18736456, 18737074], [18741445, 18741838]]
ENST00000468071 [[18736387, 18737074], [18741895, 18741945]] None
NM_020905 [[18735988, 18737074], [18741445, 18741959]] [[18736456, 18737074], [18741445, 18741838]]
Promoter
Chrom Start End Description
chr2 18741705 18741710 CAGE_peak_6_at_RDH14_5end
chr2 18741733 18741744 CAGE_peak_2_at_RDH14_5end
chr2 18741747 18741753 CAGE_peak_5_at_RDH14_5end
chr2 18741782 18741791 CAGE_peak_3_at_RDH14_5end
chr2 18741882 18741968 CAGE_peak_1_at_RDH14_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I018559 18559114 18561401 2.03 [{'connected_gene': 'RDH14', 'score': 550.77}, {'connected_gene': 'ENSG00000260331', 'score': 0.39}, {'connected_gene': 'NT5C1B-RDH14', 'score': 0.31}]

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