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
ENST00000282728 [[94447944, 94450104], [94452124, 94452303], [94452458, 94452509], [94454303, 94455403]] [[94449743, 94450104], [94452124, 94452303], [94452458, 94452509], [94454303, 94454525]]
ENST00000551454 [[94449711, 94450104], [94451326, 94452240]] None
ENST00000472590 [[94450842, 94451856], [94452124, 94452303], [94452458, 94452509], [94454303, 94454845]] [[94452279, 94452303], [94452458, 94452509], [94454303, 94454525]]
ENST00000492654 [[94451611, 94452303], [94452458, 94452509], [94454303, 94454545]] [[94452279, 94452303], [94452458, 94452509], [94454303, 94454525]]
NM_002729 [[94449680, 94450104], [94452124, 94452303], [94452458, 94452509], [94454303, 94455408]] [[94449743, 94450104], [94452124, 94452303], [94452458, 94452509], [94454303, 94454525]]
Promoter
Chrom Start End Description
chr10 94449649 94449664 CAGE_peak_3_at_HHEX_5end
chr10 94449675 94449694 CAGE_peak_2_at_HHEX_5end
chr10 94449703 94449718 CAGE_peak_1_at_HHEX_5end
chr10 94451574 94451587 CAGE_peak_6_at_HHEX_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I092754 92754239 92758466 1.94 [{'connected_gene': 'BTAF1', 'score': 43.86}, {'connected_gene': 'RPL17P34', 'score': 31.97}, {'connected_gene': 'PDE6C', 'score': 12.09}, {'connected_gene': 'TNKS2', 'score': 9.78}, {'connected_gene': 'MARK2P9', 'score': 6.0}, {'connected_gene': 'EXOC6', 'score': 2.84}, {'connected_gene': 'MARCH5', 'score': 2.78}, {'connected_gene': 'HHEX', 'score': 2.63}, {'connected_gene': 'GC10P092747', 'score': 0.44}, {'connected_gene': 'GC10M092781', 'score': 0.31}]
chr10 GH10I092845 92845601 92849947 2.18 [{'connected_gene': 'EXOC6', 'score': 550.39}, {'connected_gene': 'HHEX', 'score': 11.38}, {'connected_gene': 'PDE6C', 'score': 4.73}, {'connected_gene': 'ENSG00000225118', 'score': 0.29}]
chr10 GH10I093333 93333092 93335940 0.67 [{'connected_gene': 'CYP26C1', 'score': 10.44}, {'connected_gene': 'ENSG00000226425', 'score': 10.44}, {'connected_gene': 'MYOF', 'score': 7.56}, {'connected_gene': 'HHEX', 'score': 4.26}, {'connected_gene': 'GC10P093383', 'score': 0.25}, {'connected_gene': 'RPL17P34', 'score': 0.25}]
chr10 GH10I092688 92688560 92698661 2.48 [{'connected_gene': 'HHEX', 'score': 565.95}, {'connected_gene': 'BTAF1', 'score': 33.91}, {'connected_gene': 'RPL17P34', 'score': 27.24}, {'connected_gene': 'PDE6C', 'score': 25.3}, {'connected_gene': 'KIF11', 'score': 16.39}, {'connected_gene': 'IDE', 'score': 11.89}, {'connected_gene': 'TNKS2', 'score': 10.36}, {'connected_gene': 'EIF2S2P3', 'score': 4.68}, {'connected_gene': 'GC10M092666', 'score': 0.77}]
chr10 GH10I092640 92640244 92640393 0.57 [{'connected_gene': 'HHEX', 'score': 11.61}, {'connected_gene': 'KIF11', 'score': 11.04}, {'connected_gene': 'IDE', 'score': 11.0}, {'connected_gene': 'RN7SL644P', 'score': 0.37}, {'connected_gene': 'GC10P092612', 'score': 0.31}]
chr10 GH10I092644 92644110 92645118 0.97 [{'connected_gene': 'HHEX', 'score': 11.95}, {'connected_gene': 'KIF11', 'score': 11.55}, {'connected_gene': 'IDE', 'score': 11.51}, {'connected_gene': 'RN7SL644P', 'score': 0.39}, {'connected_gene': 'GC10P092612', 'score': 0.29}]
chr10 GH10I092699 92699201 92700600 1.54 [{'connected_gene': 'EIF2S2P3', 'score': 7.7}, {'connected_gene': 'HHEX', 'score': 7.0}, {'connected_gene': 'GC10M092666', 'score': 0.77}, {'connected_gene': 'ENSG00000201412', 'score': 0.39}, {'connected_gene': 'GC10M092712', 'score': 0.39}]
chr10 GH10I093389 93389339 93393793 0.2 [{'connected_gene': 'MYOF', 'score': 12.67}, {'connected_gene': 'HHEX', 'score': 5.02}, {'connected_gene': 'GC10P093383', 'score': 0.44}, {'connected_gene': 'GC10M093427', 'score': 0.28}]
chr10 GH10I093386 93386124 93387997 1.23 [{'connected_gene': 'MYOF', 'score': 14.3}, {'connected_gene': 'HHEX', 'score': 4.61}, {'connected_gene': 'GC10P093383', 'score': 0.77}, {'connected_gene': 'GC10M093427', 'score': 0.28}]
chr10 GH10I093375 93375530 93378468 1.48 [{'connected_gene': 'MYOF', 'score': 15.27}, {'connected_gene': 'CYP26A1', 'score': 10.4}, {'connected_gene': 'HHEX', 'score': 4.69}, {'connected_gene': 'GC10P093383', 'score': 0.44}, {'connected_gene': 'RPL17P34', 'score': 0.16}]