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
ENST00000237247 [[66999065, 66999090], [66999928, 67000051], [67091529, 67091593], [67098752, 67098777], [67099762, 67099846], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67126195, 67126207], [67133212, 67133224], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67147551, 67148052], [67149789, 67149870], [67154830, 67154958], [67155872, 67155999], [67161116, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67210057]] [[67000041, 67000051], [67091529, 67091593], [67098752, 67098777], [67099762, 67099846], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67126195, 67126207], [67133212, 67133224], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67147551, 67148052], [67149789, 67149870], [67154830, 67154958], [67155872, 67155999], [67161116, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208778]]
ENST00000371039 [[66999274, 66999355], [66999928, 67000051], [67091529, 67091593], [67098752, 67098777], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67155999], [67160121, 67160187], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67210768]] [[67000041, 67000051], [67091529, 67091593], [67098752, 67098777], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67155999], [67160121, 67160187], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208778]]
ENST00000424320 [[66999297, 66999355], [66999928, 67000051], [67091529, 67091593], [67098752, 67098777], [67101626, 67101698], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145425]] [[67000041, 67000051], [67091529, 67091593], [67098752, 67098777], [67101626, 67101698], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145425]]
ENST00000371035 [[66999822, 67000051], [67091529, 67091593], [67098752, 67098777], [67108492, 67108547], [67109226, 67109402], [67126195, 67126207], [67133212, 67133224], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67155999], [67161116, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208882]] [[67000041, 67000051], [67091529, 67091593], [67098752, 67098777], [67108492, 67108547], [67109226, 67109402], [67126195, 67126207], [67133212, 67133224], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67155999], [67161116, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208778]]
ENST00000468286 [[66999838, 67000051], [67091529, 67091593], [67098752, 67098777], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779]] None
ENST00000371036 [[66999868, 67000051], [67091529, 67091593], [67098752, 67098777], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67155999], [67160121, 67160187], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67213982]] [[67000044, 67000051], [67091529, 67091593], [67098752, 67098777], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67155999], [67160121, 67160187], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208778]]
ENST00000371037 [[66999964, 67000051], [67091529, 67091593], [67098752, 67098777], [67101626, 67101698], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67126195, 67126207], [67133212, 67133224], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67147551, 67148052], [67154830, 67154958], [67155872, 67155999], [67161116, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67213982]] [[67000041, 67000051], [67091529, 67091593], [67098752, 67098777], [67101626, 67101698], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67126195, 67126207], [67133212, 67133224], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67147551, 67148052], [67154830, 67154958], [67155872, 67155999], [67161116, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208778]]
ENST00000483060 [[67091530, 67091593], [67098752, 67098777], [67101626, 67101698], [67105459, 67105516], [67108492, 67108547], [67109226, 67109695]] None
ENST00000493564 [[66999287, 66999355], [66999928, 67000051], [67056152, 67056289], [67091529, 67091726]] None
ENST00000497055 [[66999863, 67000051], [67091529, 67091743]] None
ENST00000484988 [[67081621, 67081802], [67091529, 67091788]] None
ENST00000480548 [[67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67156214]] None
ENST00000487507 [[67147976, 67148052], [67154830, 67154958], [67155872, 67156214]] None
ENST00000435165 [[67160376, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67210767]] [[67161031, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208778]]
ENST00000320161 [[67160733, 67161176], [67169955, 67170192]] None
ENST00000468570 [[67161115, 67161176], [67170177, 67170440]] None
NM_001308203 [[66999251, 66999355], [66999928, 67000051], [67091529, 67091593], [67098752, 67098777], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67155999], [67160121, 67160187], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67216822]] [[67000041, 67000051], [67091529, 67091593], [67098752, 67098777], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67154830, 67154958], [67155872, 67155999], [67160121, 67160187], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208778]]
NM_032291 [[66999638, 67000051], [67091529, 67091593], [67098752, 67098777], [67101626, 67101698], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67126195, 67126207], [67133212, 67133224], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67147551, 67148052], [67154830, 67154958], [67155872, 67155999], [67161116, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67216822]] [[67000041, 67000051], [67091529, 67091593], [67098752, 67098777], [67101626, 67101698], [67105459, 67105516], [67108492, 67108547], [67109226, 67109402], [67126195, 67126207], [67133212, 67133224], [67136677, 67136702], [67137626, 67137678], [67138963, 67139049], [67142686, 67142779], [67145360, 67145435], [67147551, 67148052], [67154830, 67154958], [67155872, 67155999], [67161116, 67161176], [67184976, 67185088], [67194946, 67195102], [67199430, 67199563], [67205017, 67205220], [67206340, 67206405], [67206954, 67207119], [67208755, 67208778]]
Promoter
Chrom Start End Description
chr1 66999268 66999313 CAGE_peak_2_at_SGIP1_5end
chr1 66999711 66999720 CAGE_peak_4_at_SGIP1_5end
chr1 66999791 66999798 CAGE_peak_3_at_SGIP1_5end
chr1 66999799 66999852 CAGE_peak_1_at_SGIP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I066561 66561896 66566245 1.41 [{'connected_gene': 'SGIP1', 'score': 24.39}, {'connected_gene': 'TCTEX1D1', 'score': 20.44}, {'connected_gene': 'ENSG00000248458', 'score': 10.81}, {'connected_gene': 'PDE4B', 'score': 1.98}, {'connected_gene': 'GC01M066494', 'score': 0.77}, {'connected_gene': 'GC01P066578', 'score': 0.39}]
chr1 GH01I066617 66617978 66619722 0.43 [{'connected_gene': 'SGIP1', 'score': 13.57}, {'connected_gene': 'ENSG00000248458', 'score': 11.11}, {'connected_gene': 'TCTEX1D1', 'score': 5.22}, {'connected_gene': 'GC01P066627', 'score': 0.44}, {'connected_gene': 'GC01P066578', 'score': 0.26}]
chr1 GH01I066539 66539599 66541554 0.83 [{'connected_gene': 'SGIP1', 'score': 15.24}, {'connected_gene': 'TCTEX1D1', 'score': 14.78}, {'connected_gene': 'ENSG00000248458', 'score': 10.5}, {'connected_gene': 'GC01M066494', 'score': 0.34}]
chr1 GH01I066505 66505429 66506889 0.83 [{'connected_gene': 'SGIP1', 'score': 12.29}, {'connected_gene': 'ENSG00000248458', 'score': 10.42}, {'connected_gene': 'TCTEX1D1', 'score': 5.31}, {'connected_gene': 'GC01M066486', 'score': 0.37}, {'connected_gene': 'GC01M066494', 'score': 0.23}]
chr1 GH01I066532 66532001 66536311 1.5 [{'connected_gene': 'SGIP1', 'score': 560.62}, {'connected_gene': 'TCTEX1D1', 'score': 15.03}, {'connected_gene': 'GC01M066494', 'score': 0.31}]
chr1 GH01I066571 66571640 66572567 0.63 [{'connected_gene': 'SGIP1', 'score': 20.97}, {'connected_gene': 'ENSG00000248458', 'score': 10.83}, {'connected_gene': 'GC01P066578', 'score': 0.44}, {'connected_gene': 'GC01M066494', 'score': 0.39}]
chr1 GH01I066552 66552873 66554627 0.58 [{'connected_gene': 'SGIP1', 'score': 26.36}, {'connected_gene': 'GC01M066494', 'score': 0.44}]
chr1 GH01I066546 66546578 66546727 0.4 [{'connected_gene': 'SGIP1', 'score': 0.39}, {'connected_gene': 'GC01M066494', 'score': 0.39}]
chr1 GH01I066909 66909158 66909502 0.37 [{'connected_gene': 'WDR78', 'score': 2.21}, {'connected_gene': 'SGIP1', 'score': 1.79}, {'connected_gene': 'MIER1', 'score': 0.37}, {'connected_gene': 'GC01M066866', 'score': 0.26}, {'connected_gene': 'GC01M066865', 'score': 0.26}]
chr1 GH01I066390 66389038 66389295 0.55 [{'connected_gene': 'PDE4B', 'score': 7.38}, {'connected_gene': 'SGIP1', 'score': 3.37}, {'connected_gene': 'GC01P066373', 'score': 0.37}, {'connected_gene': 'LOC105378776', 'score': 0.31}]
chr1 GH01I066757 66757426 66759241 1.55 [{'connected_gene': 'TCTEX1D1', 'score': 15.78}, {'connected_gene': 'SGIP1', 'score': 7.1}, {'connected_gene': 'MIER1', 'score': 1.93}, {'connected_gene': 'INSL5', 'score': 0.26}]
chr1 GH01I066777 66777270 66780301 0.8 [{'connected_gene': 'TCTEX1D1', 'score': 20.12}, {'connected_gene': 'SGIP1', 'score': 4.13}, {'connected_gene': 'INSL5', 'score': 0.34}]
chr1 GH01I066526 66526908 66528427 0.51 [{'connected_gene': 'TCTEX1D1', 'score': 16.87}, {'connected_gene': 'ENSG00000248458', 'score': 9.99}, {'connected_gene': 'SGIP1', 'score': 0.44}, {'connected_gene': 'GC01M066494', 'score': 0.29}, {'connected_gene': 'GC01M066486', 'score': 0.28}]
chr1 GH01I066521 66521707 66522507 0.86 [{'connected_gene': 'TCTEX1D1', 'score': 17.55}, {'connected_gene': 'SGIP1', 'score': 9.83}, {'connected_gene': 'GC01M066486', 'score': 0.29}, {'connected_gene': 'GC01M066494', 'score': 0.28}]
chr1 GH01I066623 66623524 66625394 0.59 [{'connected_gene': 'TCTEX1D1', 'score': 18.36}, {'connected_gene': 'SGIP1', 'score': 13.55}, {'connected_gene': 'ENSG00000248458', 'score': 11.08}, {'connected_gene': 'GC01P066627', 'score': 0.77}, {'connected_gene': 'GC01P066578', 'score': 0.25}]
chr1 GH01I066542 66542258 66544274 1.37 [{'connected_gene': 'TCTEX1D1', 'score': 17.51}, {'connected_gene': 'SGIP1', 'score': 8.85}, {'connected_gene': 'GC01M066494', 'score': 0.37}]
chr1 GH01I066649 66649001 66649467 0.72 [{'connected_gene': 'TCTEX1D1', 'score': 14.66}, {'connected_gene': 'ENSG00000248458', 'score': 11.93}, {'connected_gene': 'GC01P066633', 'score': 0.37}, {'connected_gene': 'SGIP1', 'score': 0.13}]
chr1 GH01I066704 66704612 66706019 0.57 [{'connected_gene': 'TCTEX1D1', 'score': 15.85}, {'connected_gene': 'ENSG00000248458', 'score': 11.35}, {'connected_gene': 'SGIP1', 'score': 10.04}, {'connected_gene': 'GC01M066741', 'score': 0.28}]
chr1 GH01I066726 66726000 66726400 0.85 [{'connected_gene': 'TCTEX1D1', 'score': 12.44}, {'connected_gene': 'ENSG00000248458', 'score': 10.41}, {'connected_gene': 'SGIP1', 'score': 4.61}, {'connected_gene': 'GC01M066741', 'score': 0.37}]
chr1 GH01I066727 66727168 66731194 0.54 [{'connected_gene': 'TCTEX1D1', 'score': 34.42}, {'connected_gene': 'MIER1', 'score': 13.86}, {'connected_gene': 'SERBP1', 'score': 11.1}, {'connected_gene': 'ENSG00000248458', 'score': 10.39}, {'connected_gene': 'SGIP1', 'score': 10.18}, {'connected_gene': 'GC01M066741', 'score': 0.37}]
chr1 GH01I066732 66732118 66734242 1.11 [{'connected_gene': 'TCTEX1D1', 'score': 22.63}, {'connected_gene': 'PDE4B', 'score': 4.51}, {'connected_gene': 'MIER1', 'score': 2.73}, {'connected_gene': 'GC01M066741', 'score': 0.39}, {'connected_gene': 'ENSG00000248458', 'score': 0.22}, {'connected_gene': 'SGIP1', 'score': 0.08}]
chr1 GH01I066071 66071711 66071896 0.36 [{'connected_gene': 'RNU4-88P', 'score': 11.89}, {'connected_gene': 'PDE4B', 'score': 5.49}, {'connected_gene': 'SGIP1', 'score': 1.69}, {'connected_gene': 'GC01M066086', 'score': 0.37}, {'connected_gene': 'LOC101927139', 'score': 0.34}]
chr1 GH01I066598 66598277 66600667 0.62 [{'connected_gene': 'ENSG00000248458', 'score': 10.86}, {'connected_gene': 'SGIP1', 'score': 8.16}, {'connected_gene': 'TCTEX1D1', 'score': 4.94}, {'connected_gene': 'GC01P066578', 'score': 0.34}, {'connected_gene': 'GC01P066627', 'score': 0.31}]
chr1 GH01I066575 66575378 66577182 0.77 [{'connected_gene': 'ENSG00000248458', 'score': 10.1}, {'connected_gene': 'SGIP1', 'score': 9.68}, {'connected_gene': 'GC01P066578', 'score': 0.77}, {'connected_gene': 'GC01M066494', 'score': 0.37}]
chr1 GH01I066743 66743263 66743504 0.4 [{'connected_gene': 'GC01M066741', 'score': 550.77}, {'connected_gene': 'SGIP1', 'score': 4.33}, {'connected_gene': 'ENSG00000248458', 'score': 0.2}]
chr1 GH01I066495 66495603 66496236 0.46 [{'connected_gene': 'ENSG00000248458', 'score': 10.18}, {'connected_gene': 'GC01M066486', 'score': 0.44}, {'connected_gene': 'SGIP1', 'score': 0.28}, {'connected_gene': 'GC01M066494', 'score': 0.2}]
chr1 GH01I066503 66503958 66504107 0.72 [{'connected_gene': 'ENSG00000248458', 'score': 10.18}, {'connected_gene': 'GC01M066486', 'score': 0.39}, {'connected_gene': 'SGIP1', 'score': 0.31}, {'connected_gene': 'GC01M066494', 'score': 0.22}]
chr1 GH01I066675 66675839 66678083 0.58 [{'connected_gene': 'ENSG00000248458', 'score': 550.77}, {'connected_gene': 'TCTEX1D1', 'score': 20.65}, {'connected_gene': 'SGIP1', 'score': 10.21}, {'connected_gene': 'GC01P066633', 'score': 0.26}]
chr1 GH01I066489 66489265 66489436 0.54 [{'connected_gene': 'GC01M066486', 'score': 550.77}, {'connected_gene': 'TCTEX1D1', 'score': 5.38}, {'connected_gene': 'PDE4B', 'score': 2.67}, {'connected_gene': 'MIER1', 'score': 1.25}, {'connected_gene': 'SGIP1', 'score': 0.26}]

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