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
ENST00000228936 [[14978502, 14982396], [14993378, 14994087], [14995903, 14996429]] [[14982304, 14982396], [14993378, 14994087], [14995903, 14996047]]
ENST00000430129 [[14982287, 14982396], [14994015, 14994087], [14995903, 14995996]] [[14982363, 14982396], [14994015, 14994087], [14995903, 14995996]]
ENST00000544616 [[14982287, 14982396], [14995903, 14995996]] [[14982363, 14982396], [14995903, 14995996]]
ENST00000420600 [[14993293, 14994087], [14995903, 14995996]] [[14993358, 14994087], [14995903, 14995996]]
NM_021071 [[14982244, 14982396], [14993378, 14994087], [14995903, 14996413]] [[14982304, 14982396], [14993378, 14994087], [14995903, 14996047]]
Promoter
Chrom Start End Description
chr12 14996355 14996441 CAGE_peak_1_at_ART4_5end
chr12 14996451 14996472 CAGE_peak_2_at_ART4_5end
chr12 14996486 14996500 CAGE_peak_3_at_ART4_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I014780 14780601 14780800 0.31 [{'connected_gene': 'WBP11', 'score': 12.57}, {'connected_gene': 'ART4', 'score': 10.61}, {'connected_gene': 'ENSG00000256339', 'score': 10.03}, {'connected_gene': 'SMCO3', 'score': 10.0}, {'connected_gene': 'PDE6H', 'score': 8.93}, {'connected_gene': 'C12orf60', 'score': 0.77}, {'connected_gene': 'GC12P014775', 'score': 0.44}, {'connected_gene': 'PIR36886', 'score': 0.44}]
chr12 GH12I014883 14883386 14886556 1.92 [{'connected_gene': 'MGP', 'score': 550.77}, {'connected_gene': 'ENSG00000256339', 'score': 36.62}, {'connected_gene': 'ERP27', 'score': 29.78}, {'connected_gene': 'PDE6H', 'score': 15.64}, {'connected_gene': 'ART4', 'score': 11.51}, {'connected_gene': 'SMCO3', 'score': 10.51}, {'connected_gene': 'ARHGDIB', 'score': 10.39}, {'connected_gene': 'HIST4H4', 'score': 10.36}, {'connected_gene': 'H2AFJ', 'score': 10.36}, {'connected_gene': 'WBP11', 'score': 10.14}, {'connected_gene': 'C12orf60', 'score': 10.11}, {'connected_gene': 'GC12M014862', 'score': 0.39}]
chr12 GH12I014999 14999507 14999684 0.38 [{'connected_gene': 'ART4', 'score': 11.73}, {'connected_gene': 'PDE6H', 'score': 11.34}, {'connected_gene': 'ENSG00000256339', 'score': 11.12}, {'connected_gene': 'ARHGDIB', 'score': 11.11}, {'connected_gene': 'ERP27', 'score': 10.53}, {'connected_gene': 'SMCO3', 'score': 10.49}, {'connected_gene': 'C12orf60', 'score': 9.95}, {'connected_gene': 'MGP', 'score': 9.69}, {'connected_gene': 'LINC01489', 'score': 0.77}, {'connected_gene': 'LOC105369670', 'score': 0.44}]
chr12 GH12I014846 14846001 14846739 0.58 [{'connected_gene': 'ART4', 'score': 0.77}, {'connected_gene': 'GC12M014862', 'score': 0.31}, {'connected_gene': 'C12orf60', 'score': 0.21}]
chr12 GH12I014980 14980773 14984199 0.99 [{'connected_gene': 'ART4', 'score': 11.22}, {'connected_gene': 'ENSG00000256339', 'score': 10.74}, {'connected_gene': 'ERP27', 'score': 10.2}, {'connected_gene': 'WBP11', 'score': 10.15}, {'connected_gene': 'C12orf60', 'score': 10.14}, {'connected_gene': 'HIST4H4', 'score': 9.94}, {'connected_gene': 'H2AFJ', 'score': 9.86}, {'connected_gene': 'SMCO3', 'score': 9.51}, {'connected_gene': 'ARHGDIB', 'score': 7.16}, {'connected_gene': 'PDE6H', 'score': 5.62}, {'connected_gene': 'GC12P014973', 'score': 0.44}, {'connected_gene': 'GC12P014974', 'score': 0.44}, {'connected_gene': 'LOC105369670', 'score': 0.44}]
chr12 GH12I014931 14931507 14932649 0.2 [{'connected_gene': 'ART4', 'score': 11.47}, {'connected_gene': 'HIST4H4', 'score': 11.04}, {'connected_gene': 'MGP', 'score': 10.79}, {'connected_gene': 'C12orf60', 'score': 10.65}, {'connected_gene': 'PDE6H', 'score': 10.29}, {'connected_gene': 'ENSG00000256339', 'score': 9.51}, {'connected_gene': 'ERP27', 'score': 0.44}, {'connected_gene': 'GC12M014903', 'score': 0.31}]
chr12 GH12I014945 14945763 14964864 2.65 [{'connected_gene': 'ARHGDIB', 'score': 572.66}, {'connected_gene': 'ERP27', 'score': 16.91}, {'connected_gene': 'PDE6H', 'score': 16.09}, {'connected_gene': 'WBP11', 'score': 12.28}, {'connected_gene': 'ART4', 'score': 11.35}, {'connected_gene': 'HIST4H4', 'score': 10.69}, {'connected_gene': 'H2AFJ', 'score': 10.69}, {'connected_gene': 'SMCO3', 'score': 10.41}, {'connected_gene': 'C12orf60', 'score': 10.32}, {'connected_gene': 'ENSG00000256339', 'score': 10.26}, {'connected_gene': 'MGP', 'score': 10.15}, {'connected_gene': 'PLBD1', 'score': 2.18}, {'connected_gene': 'LOC105369670', 'score': 0.29}]
chr12 GH12I014896 14896047 14897378 0.91 [{'connected_gene': 'ERP27', 'score': 43.47}, {'connected_gene': 'ART4', 'score': 11.36}, {'connected_gene': 'SMCO3', 'score': 10.16}, {'connected_gene': 'ENSG00000256339', 'score': 10.16}, {'connected_gene': 'PDE6H', 'score': 9.63}, {'connected_gene': 'GC12M014889', 'score': 0.44}, {'connected_gene': 'GC12M014903', 'score': 0.39}, {'connected_gene': 'C12orf60', 'score': 0.14}]
chr12 GH12I014892 14892472 14894388 0.58 [{'connected_gene': 'ERP27', 'score': 39.58}, {'connected_gene': 'ART4', 'score': 12.24}, {'connected_gene': 'ENSG00000256339', 'score': 9.93}, {'connected_gene': 'SMCO3', 'score': 9.9}, {'connected_gene': 'GC12M014889', 'score': 0.77}, {'connected_gene': 'GC12M014903', 'score': 0.39}, {'connected_gene': 'C12orf60', 'score': 0.14}]
chr12 GH12I014834 14834004 14838259 0.99 [{'connected_gene': 'ERP27', 'score': 29.75}, {'connected_gene': 'ENSG00000256339', 'score': 24.73}, {'connected_gene': 'ART4', 'score': 0.44}, {'connected_gene': 'GC12P014829', 'score': 0.44}, {'connected_gene': 'C12orf60', 'score': 0.23}]
chr12 GH12I015001 15001687 15002394 0.31 [{'connected_gene': 'LINC01489', 'score': 550.77}, {'connected_gene': 'ART4', 'score': 12.04}, {'connected_gene': 'PDE6H', 'score': 10.92}, {'connected_gene': 'ENSG00000256339', 'score': 10.71}, {'connected_gene': 'ARHGDIB', 'score': 10.63}, {'connected_gene': 'SMCO3', 'score': 10.28}, {'connected_gene': 'H2AFJ', 'score': 10.16}, {'connected_gene': 'HIST4H4', 'score': 10.16}, {'connected_gene': 'MGP', 'score': 10.11}, {'connected_gene': 'C12orf60', 'score': 10.1}, {'connected_gene': 'GC12M015095', 'score': 0.16}]
chr12 GH12I015000 15000087 15000236 0.31 [{'connected_gene': 'LINC01489', 'score': 550.77}, {'connected_gene': 'ART4', 'score': 11.73}, {'connected_gene': 'PDE6H', 'score': 11.34}, {'connected_gene': 'ENSG00000256339', 'score': 11.12}, {'connected_gene': 'ARHGDIB', 'score': 11.11}, {'connected_gene': 'ERP27', 'score': 10.53}, {'connected_gene': 'SMCO3', 'score': 10.49}, {'connected_gene': 'C12orf60', 'score': 9.95}, {'connected_gene': 'MGP', 'score': 9.69}, {'connected_gene': 'LOC105369670', 'score': 0.39}]
chr12 GH12I014853 14853777 14855208 0.66 [{'connected_gene': 'ENSG00000256339', 'score': 29.97}, {'connected_gene': 'PDE6H', 'score': 5.77}, {'connected_gene': 'ART4', 'score': 0.39}, {'connected_gene': 'GC12M014862', 'score': 0.34}, {'connected_gene': 'C12orf60', 'score': 0.2}]
chr12 GH12I014848 14848834 14850396 0.46 [{'connected_gene': 'ENSG00000256339', 'score': 30.38}, {'connected_gene': 'ART4', 'score': 0.44}, {'connected_gene': 'GC12M014862', 'score': 0.31}, {'connected_gene': 'C12orf60', 'score': 0.21}]
chr12 GH12I014840 14840628 14844210 1.89 [{'connected_gene': 'ENSG00000256339', 'score': 575.24}, {'connected_gene': 'ART4', 'score': 553.73}, {'connected_gene': 'GC12M014843', 'score': 550.77}, {'connected_gene': 'GC12M014844', 'score': 550.77}, {'connected_gene': 'ERP27', 'score': 30.38}, {'connected_gene': 'H2AFJ', 'score': 4.07}, {'connected_gene': 'SMCO3', 'score': 2.03}, {'connected_gene': 'C12orf60', 'score': 0.22}]
chr12 GH12I014845 14845201 14845800 0.93 [{'connected_gene': 'ENSG00000261324', 'score': 14.13}, {'connected_gene': 'HIST4H4', 'score': 12.65}, {'connected_gene': 'ATF7IP', 'score': 12.27}, {'connected_gene': 'H2AFJ', 'score': 11.16}, {'connected_gene': 'ART4', 'score': 0.77}, {'connected_gene': 'GC12M014862', 'score': 0.31}, {'connected_gene': 'C12orf60', 'score': 0.21}]