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
ENST00000330244 [[83205503, 83205632], [83207056, 83207122], [83207630, 83207736], [83208731, 83208883], [83209176, 83209315]] [[83205551, 83205632], [83207056, 83207122], [83207630, 83207736], [83208731, 83208883], [83209176, 83209179]]
ENST00000560229 [[83205505, 83205632], [83207056, 83207122], [83207630, 83207736], [83208731, 83209208]] None
ENST00000561157 [[83205505, 83207122], [83207630, 83207736], [83208731, 83208883], [83209176, 83209210]] [[83206972, 83207122], [83207630, 83207736], [83208731, 83208883], [83209176, 83209179]]
ENST00000558397 [[83205506, 83205632], [83206672, 83206793], [83207056, 83207122], [83207630, 83207736], [83208731, 83208883], [83209176, 83209188]] [[83205506, 83205632], [83206672, 83206793], [83207056, 83207122], [83207630, 83207736], [83208731, 83208883], [83209176, 83209179]]
ENST00000561068 [[83205509, 83205632], [83207056, 83207122], [83207630, 83207736], [83208050, 83208126], [83208731, 83208882]] [[83208098, 83208126], [83208731, 83208882]]
ENST00000560612 [[83205513, 83207122], [83207630, 83207736], [83208731, 83208893]] None
ENST00000561440 [[83205538, 83205632], [83207056, 83208884]] None
ENST00000560639 [[83205559, 83205632], [83207056, 83207736], [83208731, 83208883], [83209176, 83209203]] None
ENST00000559776 [[83207415, 83207736], [83208731, 83209170]] None
ENST00000559273 [[83208334, 83208883], [83209176, 83209207]] None
NR_111943 [[82821157, 82821289], [82822713, 82822779], [82823287, 82823393], [82824388, 82824865]] None
NR_111944 [[82821157, 82821289], [82822329, 82822450], [82822713, 82822779], [82823287, 82823393], [82824388, 82824540], [82824833, 82824952]] None
NM_001021 [[82821157, 82821289], [82822713, 82822779], [82823287, 82823393], [82824388, 82824540], [82824833, 82824952]] [[82821208, 82821289], [82822713, 82822779], [82823287, 82823393], [82824388, 82824540], [82824833, 82824836]]

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I082146 82146015 82148081 1.29 [{'connected_gene': 'RPS17', 'score': 4.05}, {'connected_gene': 'GC15P082150', 'score': 0.77}, {'connected_gene': 'GC15P082104', 'score': 0.26}, {'connected_gene': 'EFL1', 'score': 0.13}]
chr15 GH15I082539 82539200 82541401 1.74 [{'connected_gene': 'RPS17', 'score': 550.77}, {'connected_gene': 'ENSG00000278013', 'score': 550.77}, {'connected_gene': 'PIR43638', 'score': 550.77}, {'connected_gene': 'C15orf40', 'score': 13.83}, {'connected_gene': 'FAM103A1', 'score': 12.63}, {'connected_gene': 'WHAMM', 'score': 10.51}, {'connected_gene': 'AP3B2', 'score': 10.5}, {'connected_gene': 'ENSG00000260836', 'score': 0.37}]
chr15 GH15I081752 81752460 81753329 1.01 [{'connected_gene': 'GC15P081751', 'score': 550.77}, {'connected_gene': 'GC15P081752', 'score': 550.77}, {'connected_gene': 'RPS17', 'score': 27.73}, {'connected_gene': 'UBE2Q2P2', 'score': 20.49}, {'connected_gene': 'GOLGA6L9', 'score': 19.38}, {'connected_gene': 'SNHG21', 'score': 9.84}, {'connected_gene': 'GC15M081763', 'score': 0.39}, {'connected_gene': 'ENSG00000259692', 'score': 0.13}, {'connected_gene': 'ENSG00000259543', 'score': 0.05}]