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
ENST00000519097 [[27109138, 27109640], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205060], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27229685]] [[27109588, 27109640], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205060], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27229230]]
ENST00000380036 [[27109146, 27109640], [27157828, 27158140], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27180237, 27180366], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205063], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27230173]] [[27109588, 27109640], [27157828, 27158140], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27180237, 27180366], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205063], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27229230]]
ENST00000406359 [[27109413, 27109640], [27157828, 27158140], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205063], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27229744]] [[27109588, 27109640], [27157828, 27158140], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205063], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27229230]]
ENST00000519080 [[27109450, 27109640], [27169492, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27202883]] [[27109588, 27109640], [27169492, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27202883]]
NM_001290078 [[27109138, 27109640], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205060], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27230176]] [[27109588, 27109640], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205060], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27229230]]
NM_001290077 [[27109138, 27109640], [27157828, 27158140], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205063], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27230176]] [[27109588, 27109640], [27157828, 27158140], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205063], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27229230]]
NM_000459 [[27109138, 27109640], [27157828, 27158140], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27180237, 27180366], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205063], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27230176]] [[27109588, 27109640], [27157828, 27158140], [27168492, 27168603], [27169474, 27169627], [27172613, 27172745], [27173219, 27173360], [27180237, 27180366], [27183456, 27183608], [27185482, 27185627], [27190526, 27190688], [27192486, 27192621], [27197312, 27197597], [27202817, 27203117], [27204908, 27205063], [27206579, 27206790], [27209118, 27209229], [27212704, 27212895], [27213481, 27213595], [27217685, 27217756], [27218774, 27218815], [27220046, 27220143], [27228203, 27228303], [27229155, 27229230]]
Promoter
Chrom Start End Description
chr9 27109133 27109187 CAGE_peak_4_at_TEK_5end
chr9 27109199 27109248 CAGE_peak_3_at_TEK_5end
chr9 27109265 27109276 CAGE_peak_5_at_TEK_5end
chr9 27109392 27109435 CAGE_peak_1_at_TEK_5end
chr9 27109440 27109456 CAGE_peak_2_at_TEK_5end
chr9 27109469 27109474 CAGE_peak_6_at_TEK_5end
chr9 27109480 27109485 CAGE_peak_7_at_TEK_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I027053 27053092 27055000 0.66 [{'connected_gene': 'IFT74', 'score': 15.28}, {'connected_gene': 'LRRC19', 'score': 12.87}, {'connected_gene': 'TEK', 'score': 10.95}, {'connected_gene': 'EQTN', 'score': 9.58}, {'connected_gene': 'ENSG00000254396', 'score': 0.25}]
chr9 GH09I027108 27108747 27113012 1.9 [{'connected_gene': 'TEK', 'score': 552.06}, {'connected_gene': 'IFT74', 'score': 16.5}, {'connected_gene': 'LRRC19', 'score': 5.39}, {'connected_gene': 'PIR32540', 'score': 0.31}]
chr9 GH09I027085 27085860 27090666 0.69 [{'connected_gene': 'TEK', 'score': 12.42}, {'connected_gene': 'CAAP1', 'score': 11.27}, {'connected_gene': 'EQTN', 'score': 9.79}, {'connected_gene': 'IFT74', 'score': 8.81}, {'connected_gene': 'LRRC19', 'score': 7.77}, {'connected_gene': 'ENSG00000254396', 'score': 5.99}]
chr9 GH09I027149 27149856 27152623 0.83 [{'connected_gene': 'TEK', 'score': 6.78}, {'connected_gene': 'MOB3B', 'score': 4.81}, {'connected_gene': 'LRRC19', 'score': 4.58}, {'connected_gene': 'CAAP1', 'score': 4.31}, {'connected_gene': 'PIR32540', 'score': 0.39}, {'connected_gene': 'RNA5SP280', 'score': 0.25}]
chr9 GH09I027141 27141668 27143699 0.2 [{'connected_gene': 'TEK', 'score': 22.61}, {'connected_gene': 'LRRC19', 'score': 10.93}, {'connected_gene': 'PIR32540', 'score': 0.44}, {'connected_gene': 'RNA5SP280', 'score': 0.22}]
chr9 GH09I027123 27123781 27127233 0.96 [{'connected_gene': 'TEK', 'score': 10.98}, {'connected_gene': 'EQTN', 'score': 9.76}, {'connected_gene': 'LRRC19', 'score': 5.57}, {'connected_gene': 'ENSG00000254396', 'score': 5.25}, {'connected_gene': 'PIR32540', 'score': 0.39}]
chr9 GH09I027180 27180913 27182342 0.31 [{'connected_gene': 'TEK', 'score': 10.75}, {'connected_gene': 'EQTN', 'score': 10.3}, {'connected_gene': 'RNA5SP280', 'score': 0.37}, {'connected_gene': 'PIR32540', 'score': 0.26}]
chr9 GH09I027130 27130771 27131858 0.2 [{'connected_gene': 'TEK', 'score': 22.93}, {'connected_gene': 'EQTN', 'score': 9.76}, {'connected_gene': 'PIR32540', 'score': 0.44}]
chr9 GH09I027131 27131863 27132012 0.2 [{'connected_gene': 'TEK', 'score': 12.38}, {'connected_gene': 'EQTN', 'score': 9.76}, {'connected_gene': 'PIR32540', 'score': 0.77}]
chr9 GH09I027129 27129057 27130081 0.2 [{'connected_gene': 'TEK', 'score': 12.38}, {'connected_gene': 'EQTN', 'score': 9.76}, {'connected_gene': 'PIR32540', 'score': 0.44}]
chr9 GH09I027280 27280801 27281000 0.38 [{'connected_gene': 'TEK', 'score': 9.6}, {'connected_gene': 'LINC00032', 'score': 0.77}, {'connected_gene': 'RPL36AP34', 'score': 0.19}]
chr9 GH09I027281 27281201 27281400 0.31 [{'connected_gene': 'TEK', 'score': 9.6}, {'connected_gene': 'LINC00032', 'score': 0.77}, {'connected_gene': 'RPL36AP34', 'score': 0.19}]
chr9 GH09I027161 27161926 27162573 0.31 [{'connected_gene': 'TEK', 'score': 10.62}, {'connected_gene': 'PIR32540', 'score': 0.31}, {'connected_gene': 'RNA5SP280', 'score': 0.28}]
chr9 GH09I027154 27154530 27155776 1.08 [{'connected_gene': 'TEK', 'score': 5.26}, {'connected_gene': 'PIR32540', 'score': 0.37}, {'connected_gene': 'RNA5SP280', 'score': 0.26}]
chr9 GH09I027193 27193785 27195401 0.79 [{'connected_gene': 'TEK', 'score': 18.37}, {'connected_gene': 'RNA5SP280', 'score': 0.77}, {'connected_gene': 'PIR32540', 'score': 0.22}]
chr9 GH09I027226 27226863 27228110 0.52 [{'connected_gene': 'EQTN', 'score': 10.34}, {'connected_gene': 'TEK', 'score': 10.31}, {'connected_gene': 'RPL36AP34', 'score': 0.37}, {'connected_gene': 'LINC00032', 'score': 0.22}]
chr9 GH09I027117 27117143 27119853 1.33 [{'connected_gene': 'EQTN', 'score': 10.03}, {'connected_gene': 'LRRC19', 'score': 6.69}, {'connected_gene': 'TEK', 'score': 0.44}, {'connected_gene': 'PIR32540', 'score': 0.37}]
chr9 GH09I027183 27183903 27184052 0.52 [{'connected_gene': 'RNA5SP280', 'score': 0.39}, {'connected_gene': 'PIR32540', 'score': 0.25}, {'connected_gene': 'TEK', 'score': 0.19}]