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
ENST00000494621 [[71503690, 71503884], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592835]] None
ENST00000466975 [[71503722, 71503884], [71590282, 71590321], [71591083, 71591382], [71592558, 71592618]] None
ENST00000410075 [[71503722, 71503884], [71575882, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71615752, 71615853], [71620523, 71620775], [71622376, 71622796]] None
ENST00000466330 [[71503774, 71503884], [71582848, 71582910], [71588774, 71588825], [71590282, 71590321], [71591083, 71591382], [71592558, 71592743]] None
ENST00000437658 [[71558857, 71558995], [71575882, 71576675]] [[71576084, 71576675]]
ENST00000377802 [[71558888, 71559005], [71575882, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71615542, 71615610]] [[71576084, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71615542, 71615610]]
ENST00000355812 [[71558888, 71559005], [71575882, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662187]] [[71576084, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71651779, 71651845], [71653589, 71653644]]
ENST00000464375 [[71558889, 71559005], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592668]] None
ENST00000475743 [[71558891, 71558995], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592644]] None
ENST00000409544 [[71558893, 71558995], [71575556, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662191]] [[71576084, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71661937]]
ENST00000264447 [[71558893, 71559005], [71575882, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662191]] [[71576084, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71661937]]
ENST00000455226 [[71558895, 71558995], [71561630, 71561726], [71575882, 71576271]] [[71576084, 71576271]]
ENST00000454278 [[71558895, 71559005], [71561630, 71561726], [71575882, 71576271]] [[71576084, 71576271]]
ENST00000487707 [[71558911, 71558995], [71561630, 71561726], [71575556, 71575968]] None
ENST00000417778 [[71558911, 71559005], [71559959, 71560207], [71568839, 71568967], [71575882, 71576172]] [[71576084, 71576172]]
ENST00000454122 [[71558911, 71559005], [71575556, 71576193]] [[71576084, 71576193]]
ENST00000601581 [[71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71602439, 71602465]] [[71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71602439, 71602465]]
ENST00000434786 [[71601067, 71601191], [71601959, 71603450]] None
ENST00000486494 [[71606645, 71607410], [71607642, 71607850]] None
ENST00000491843 [[71607305, 71607410], [71607642, 71607695], [71607967, 71608033], [71623270, 71623321], [71625830, 71625887]] None
ENST00000487638 [[71622848, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662188]] None
ENST00000494241 [[71630979, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71651779, 71651845], [71653589, 71653736]] None
ENST00000409407 [[71634368, 71635909], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662190]] [[71635828, 71635909], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71661937]]
ENST00000483421 [[71645351, 71645769], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662182]] None
ENST00000493576 [[71653975, 71654544], [71658456, 71658558], [71660294, 71660413], [71661871, 71662188]] None
ENST00000461991 [[71654412, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71660605, 71660665], [71661871, 71662199]] None
ENST00000492262 [[71654424, 71654544], [71655676, 71656093]] None
ENST00000472758 [[71654479, 71654544], [71655660, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71661999]] None
ENST00000488126 [[71658152, 71658558], [71660294, 71660413], [71661871, 71662188]] None
ENST00000460310 [[71658312, 71658558], [71660294, 71660696]] None
NM_001014972 [[71558884, 71558995], [71575882, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662191]] [[71576084, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71661937]]
NM_001252612 [[71558884, 71558995], [71575556, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662191]] [[71576084, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71661937]]
NM_001252613 [[71558884, 71559005], [71575882, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660357, 71660413], [71661871, 71662191]] [[71576084, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660357, 71660413], [71661871, 71661937]]
NM_014497 [[71558884, 71559005], [71575882, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71662191]] [[71576084, 71577401], [71582848, 71582910], [71590282, 71590321], [71591083, 71591382], [71592558, 71592836], [71595511, 71595658], [71597012, 71597135], [71607351, 71607410], [71607642, 71607695], [71623270, 71623321], [71625830, 71625902], [71626688, 71626775], [71627241, 71627310], [71627607, 71627648], [71629085, 71629217], [71630999, 71631128], [71632730, 71632772], [71633257, 71633392], [71635251, 71635377], [71645731, 71645769], [71649943, 71651168], [71651779, 71651845], [71653589, 71654544], [71655676, 71655781], [71658456, 71658558], [71660294, 71660413], [71661871, 71661937]]
Promoter
Chrom Start End Description
chr2 71503683 71503748 CAGE_peak_2_at_ZNF638_5end
chr2 71558882 71558936 CAGE_peak_1_at_ZNF638_5end
chr2 71576703 71576714 CAGE_peak_15_at_ZNF638_5end
chr2 71606932 71606935 CAGE_peak_3_at_ZNF638_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I071501 71501789 71506744 1.23 [{'connected_gene': 'DYSF', 'score': 17.22}, {'connected_gene': 'ZNF638', 'score': 12.6}, {'connected_gene': 'ENSG00000233870', 'score': 6.63}, {'connected_gene': 'PAIP2B', 'score': 5.07}, {'connected_gene': 'GC02P071578', 'score': 0.19}]
chr2 GH02I071448 71448960 71459242 2.56 [{'connected_gene': 'DYSF', 'score': 585.16}, {'connected_gene': 'ZNF638', 'score': 18.22}, {'connected_gene': 'CLEC4F', 'score': 12.6}, {'connected_gene': 'RNU6-105P', 'score': 10.85}, {'connected_gene': 'TEX261', 'score': 10.62}, {'connected_gene': 'ANKRD53', 'score': 10.11}, {'connected_gene': 'PAIP2B', 'score': 5.87}, {'connected_gene': 'OR7E91P', 'score': 5.01}, {'connected_gene': 'NAGK', 'score': 1.85}, {'connected_gene': 'GC02P071578', 'score': 0.13}]
chr2 GH02I071465 71465583 71468212 1.95 [{'connected_gene': 'DYSF', 'score': 550.39}, {'connected_gene': 'ZNF638', 'score': 4.97}, {'connected_gene': 'GC02P071578', 'score': 0.14}]
chr2 GH02I070976 70976014 70979838 1.94 [{'connected_gene': 'ANKRD53', 'score': 556.73}, {'connected_gene': 'ZNF638', 'score': 16.3}, {'connected_gene': 'TEX261', 'score': 14.1}, {'connected_gene': 'ATP6V1B1-AS1', 'score': 11.26}, {'connected_gene': 'VAX2', 'score': 10.04}, {'connected_gene': 'NAGK', 'score': 4.91}, {'connected_gene': 'OR7E62P', 'score': 4.67}, {'connected_gene': 'CLEC4F', 'score': 4.65}, {'connected_gene': 'LOC105374795', 'score': 0.44}, {'connected_gene': 'ENSG00000258881', 'score': 0.37}]
chr2 GH02I070727 70727965 70729246 0.67 [{'connected_gene': 'TIA1', 'score': 43.14}, {'connected_gene': 'ZNF638', 'score': 26.4}, {'connected_gene': 'ANKRD53', 'score': 21.08}, {'connected_gene': 'TEX261', 'score': 20.84}, {'connected_gene': 'PCBP1-AS1', 'score': 20.38}, {'connected_gene': 'MPHOSPH10', 'score': 19.25}, {'connected_gene': 'ADD2', 'score': 19.24}, {'connected_gene': 'CLEC4F', 'score': 10.77}, {'connected_gene': 'LOC105374796', 'score': 10.62}, {'connected_gene': 'GMCL1', 'score': 10.25}, {'connected_gene': 'PIR38094', 'score': 0.28}]
chr2 GH02I072143 72143951 72146216 1.58 [{'connected_gene': 'CYP26B1', 'score': 12.83}, {'connected_gene': 'ZNF638', 'score': 10.32}, {'connected_gene': 'LOC105374798', 'score': 0.14}]
chr2 GH02I071062 71062686 71074523 2.52 [{'connected_gene': 'NAGK', 'score': 592.89}, {'connected_gene': 'ENSG00000272735', 'score': 550.77}, {'connected_gene': 'TIA1', 'score': 24.99}, {'connected_gene': 'ZNF638', 'score': 16.61}, {'connected_gene': 'MPHOSPH10', 'score': 11.25}, {'connected_gene': 'OR7E62P', 'score': 10.02}, {'connected_gene': 'GC02P071073', 'score': 0.77}, {'connected_gene': 'ENSG00000236469', 'score': 0.77}]
chr2 GH02I071337 71337401 71337600 0.38 [{'connected_gene': 'PAIP2B', 'score': 5.43}, {'connected_gene': 'ENSG00000281195', 'score': 0.28}, {'connected_gene': 'ZNF638', 'score': 0.21}]
chr2 GH02I071226 71226067 71228000 1.97 [{'connected_gene': 'PAIP2B', 'score': 558.91}, {'connected_gene': 'TEX261', 'score': 24.13}, {'connected_gene': 'ANKRD53', 'score': 21.38}, {'connected_gene': 'MPHOSPH10', 'score': 20.7}, {'connected_gene': 'TIA1', 'score': 14.89}, {'connected_gene': 'ZNF638', 'score': 6.15}, {'connected_gene': 'ENSG00000233870', 'score': 0.25}]
chr2 GH02I071478 71477458 71477769 1.11 [{'connected_gene': 'ZNF638', 'score': 16.61}, {'connected_gene': 'ANKRD53', 'score': 10.69}, {'connected_gene': 'DYSF', 'score': 3.06}, {'connected_gene': 'NAGK', 'score': 1.51}, {'connected_gene': 'GC02P071578', 'score': 0.15}]
chr2 GH02I071306 71306437 71307399 0.43 [{'connected_gene': 'ZNF638', 'score': 20.2}, {'connected_gene': 'OR7E91P', 'score': 5.64}, {'connected_gene': 'NAGK', 'score': 4.31}, {'connected_gene': 'ENSG00000281195', 'score': 0.2}]
chr2 GH02I071331 71331071 71334301 2.01 [{'connected_gene': 'ZNF638', 'score': 558.05}, {'connected_gene': 'PAIP2B', 'score': 7.8}, {'connected_gene': 'OR7E91P', 'score': 6.48}, {'connected_gene': 'ENSG00000281195', 'score': 0.26}]
chr2 GH02I071416 71416971 71418242 0.74 [{'connected_gene': 'ZNF638', 'score': 19.36}, {'connected_gene': 'RNU6-105P', 'score': 11.69}, {'connected_gene': 'OR7E91P', 'score': 5.77}, {'connected_gene': 'PAIP2B', 'score': 4.92}, {'connected_gene': 'GC02M071380', 'score': 0.28}, {'connected_gene': 'DYSF', 'score': 0.28}]
chr2 GH02I071275 71275920 71278295 1.47 [{'connected_gene': 'ZNF638', 'score': 567.3}, {'connected_gene': 'LOC105374797', 'score': 550.77}, {'connected_gene': 'CLEC4F', 'score': 12.31}, {'connected_gene': 'TEX261', 'score': 11.83}, {'connected_gene': 'CD207', 'score': 10.43}, {'connected_gene': 'PAIP2B', 'score': 7.98}, {'connected_gene': 'OR7E91P', 'score': 5.0}, {'connected_gene': 'ENSG00000281195', 'score': 0.15}]
chr2 GH02I071303 71303991 71304100 0.2 [{'connected_gene': 'ZNF638', 'score': 11.71}, {'connected_gene': 'ENSG00000281195', 'score': 0.2}]
chr2 GH02I070601 70601211 70604355 0.31 [{'connected_gene': 'ADD2', 'score': 13.89}, {'connected_gene': 'TGFA', 'score': 11.3}, {'connected_gene': 'ZNF638', 'score': 4.84}, {'connected_gene': 'GC02M070656', 'score': 0.22}]
chr2 GH02I071128 71128525 71132884 2.3 [{'connected_gene': 'MPHOSPH10', 'score': 567.27}, {'connected_gene': 'MCEE', 'score': 559.03}, {'connected_gene': 'TEX261', 'score': 25.04}, {'connected_gene': 'TIA1', 'score': 24.01}, {'connected_gene': 'ZNF638', 'score': 16.64}, {'connected_gene': 'NAGK', 'score': 12.98}, {'connected_gene': 'ANKRD53', 'score': 10.72}, {'connected_gene': 'CLEC4F', 'score': 10.67}, {'connected_gene': 'LOC101060051', 'score': 0.31}]
chr2 GH02I071617 71617991 71620396 0.71 [{'connected_gene': 'MPHOSPH10', 'score': 20.32}, {'connected_gene': 'CLEC4F', 'score': 11.44}, {'connected_gene': 'TEX261', 'score': 10.68}, {'connected_gene': 'ZNF638', 'score': 10.62}, {'connected_gene': 'GC02P071578', 'score': 0.26}, {'connected_gene': 'DYSF', 'score': 0.1}, {'connected_gene': 'GC02P071827', 'score': 0.08}]
chr2 GH02I071045 71045801 71046400 0.38 [{'connected_gene': 'TRE-CTC15-1', 'score': 550.77}, {'connected_gene': 'OR7E62P', 'score': 15.81}, {'connected_gene': 'ZNF638', 'score': 11.31}, {'connected_gene': 'GC02P071041', 'score': 0.44}, {'connected_gene': 'ENSG00000236469', 'score': 0.37}]
chr2 GH02I071336 71336800 71337001 0.54 [{'connected_gene': 'ENSG00000281195', 'score': 0.28}, {'connected_gene': 'ZNF638', 'score': 0.21}]
chr2 GH02I071378 71378787 71379733 0.67 [{'connected_gene': 'GC02M071380', 'score': 550.77}, {'connected_gene': 'RNU6-105P', 'score': 550.77}, {'connected_gene': 'ZNF638', 'score': 5.63}, {'connected_gene': 'PAIP2B', 'score': 5.42}, {'connected_gene': 'ENSG00000281195', 'score': 0.44}]

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