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
ENST00000332797 [[139094656, 139095039], [139097215, 139097415], [139100958, 139101122], [139106363, 139106518], [139109502, 139109525], [139113885, 139114456]] [[139094811, 139095039], [139097215, 139097415], [139100958, 139101122], [139106363, 139106518], [139109502, 139109525], [139113885, 139113940]]
NM_015439 [[139094656, 139095039], [139097215, 139097415], [139100958, 139101122], [139106363, 139106518], [139109502, 139109525], [139113885, 139114456]] [[139094811, 139095039], [139097215, 139097415], [139100958, 139101122], [139106363, 139106518], [139109502, 139109525], [139113885, 139113940]]
Promoter
Chrom Start End Description
chr6 139094884 139094927 CAGE_peak_1_at_CCDC28A_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I139027 139027288 139031021 2.21 [{'connected_gene': 'ABRACL', 'score': 569.13}, {'connected_gene': 'GC06M139027', 'score': 550.77}, {'connected_gene': 'HECA', 'score': 6.54}, {'connected_gene': 'CCDC28A', 'score': 1.94}, {'connected_gene': 'GC06P139052', 'score': 0.34}]
chr6 GH06I138779 138779255 138779416 0.23 [{'connected_gene': 'NHSL1', 'score': 12.15}, {'connected_gene': 'FLJ46906', 'score': 10.3}, {'connected_gene': 'CCDC28A', 'score': 0.44}, {'connected_gene': 'GVQW2', 'score': 0.44}, {'connected_gene': 'ECT2L', 'score': 0.37}]
chr6 GH06I138591 138591812 138596567 1.17 [{'connected_gene': 'FLJ46906', 'score': 23.09}, {'connected_gene': 'NHSL1', 'score': 17.37}, {'connected_gene': 'CCDC28A', 'score': 12.29}, {'connected_gene': 'PERP', 'score': 10.19}, {'connected_gene': 'LOC100129577', 'score': 0.22}, {'connected_gene': 'ENSG00000274594', 'score': 0.12}]
chr6 GH06I138590 138590984 138591153 0.79 [{'connected_gene': 'FLJ46906', 'score': 22.21}, {'connected_gene': 'CCDC28A', 'score': 12.29}, {'connected_gene': 'NHSL1', 'score': 12.21}, {'connected_gene': 'PERP', 'score': 10.19}, {'connected_gene': 'LOC100129577', 'score': 0.22}, {'connected_gene': 'ENSG00000274594', 'score': 0.13}]
chr6 GH06I138802 138802244 138806564 0.31 [{'connected_gene': 'ECT2L', 'score': 6.68}, {'connected_gene': 'REPS1', 'score': 6.43}, {'connected_gene': 'CCDC28A', 'score': 5.04}, {'connected_gene': 'CCRL1P1', 'score': 0.37}]
chr6 GH06I138795 138795609 138796730 1.46 [{'connected_gene': 'ECT2L', 'score': 561.92}, {'connected_gene': 'CCDC28A', 'score': 0.34}, {'connected_gene': 'CCRL1P1', 'score': 0.31}]
chr6 GH06I138768 138768612 138769954 0.54 [{'connected_gene': 'ECT2L', 'score': 10.26}, {'connected_gene': 'CCDC28A', 'score': 0.77}, {'connected_gene': 'GVQW2', 'score': 0.77}, {'connected_gene': 'GC06P138761', 'score': 0.44}]
chr6 GH06I138772 138772671 138774744 2.04 [{'connected_gene': 'CCDC28A', 'score': 556.19}, {'connected_gene': 'GVQW2', 'score': 550.77}, {'connected_gene': 'ECT2L', 'score': 10.22}]
chr6 GH06I139257 139257268 139257610 0.45 [{'connected_gene': 'TXLNB', 'score': 9.44}, {'connected_gene': 'CCDC28A', 'score': 1.58}, {'connected_gene': 'LOC102723690', 'score': 0.44}, {'connected_gene': 'ENSG00000272446', 'score': 0.37}]