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
ENST00000537688 [[7022908, 7023006], [7023696, 7023823], [7024984, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271]] [[7024996, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271]]
ENST00000541477 [[7023490, 7023823], [7024981, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7032859]] [[7024996, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7031963]]
ENST00000229277 [[7023613, 7023823], [7024984, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7032859]] [[7024996, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7031963]]
ENST00000537838 [[7023701, 7023823], [7024981, 7025081], [7025580, 7025899]] None
ENST00000536199 [[7023720, 7023823], [7024599, 7025081], [7025580, 7025676], [7025834, 7025976]] None
ENST00000538763 [[7023752, 7023823], [7024981, 7025081], [7025580, 7025676], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7032347]] [[7024996, 7025081], [7025580, 7025676], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7031963]]
ENST00000544774 [[7023752, 7023823], [7024984, 7025081], [7025580, 7025676], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7032347]] [[7024996, 7025081], [7025580, 7025676], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7031963]]
ENST00000539713 [[7023757, 7023823], [7024981, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026423]] None
ENST00000542509 [[7023760, 7023823], [7024981, 7025081], [7025580, 7025676], [7025834, 7026271], [7026744, 7026873]] None
ENST00000545045 [[7023773, 7023823], [7024981, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7032861]] [[7024996, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7031963]]
ENST00000535366 [[7024370, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7032859]] [[7024996, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7031963]]
ENST00000441285 [[7026492, 7026878], [7027103, 7027314]] None
ENST00000535275 [[7028737, 7028927], [7030659, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7031973]] [[7028737, 7028927], [7030659, 7030691]]
ENST00000543975 [[7030743, 7030945], [7031506, 7031565], [7031893, 7032048]] [[7030743, 7030945]]
ENST00000534977 [[7031151, 7031255], [7031506, 7031565], [7031893, 7032081]] None
NM_001975 [[7023613, 7023823], [7024984, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7032859]] [[7024996, 7025081], [7025580, 7025676], [7025834, 7025893], [7026201, 7026271], [7026744, 7026878], [7027103, 7027326], [7028729, 7028927], [7030743, 7030945], [7031218, 7031327], [7031506, 7031565], [7031893, 7031963]]
Promoter
Chrom Start End Description
chr12 7023055 7023065 CAGE_peak_30_at_ENO2_5end
chr12 7023668 7023677 CAGE_peak_5_at_ENO2_5end
chr12 7023693 7023709 CAGE_peak_3_at_ENO2_5end
chr12 7023712 7023727 CAGE_peak_2_at_ENO2_5end
chr12 7023735 7023765 CAGE_peak_1_at_ENO2_5end
chr12 7024942 7024994 CAGE_peak_4_at_ENO2_5end
chr12 7031907 7031921 CAGE_peak_7_at_ENO2_5end
chr12 7032413 7032446 CAGE_peak_6_at_ENO2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I006197 6197491 6208512 2.29 [{'connected_gene': 'CD9', 'score': 550.77}, {'connected_gene': 'ENO2', 'score': 5.24}, {'connected_gene': 'ING4', 'score': 5.2}, {'connected_gene': 'GC12M006235', 'score': 0.29}, {'connected_gene': 'ENSG00000202318', 'score': 0.29}]
chr12 GH12I006885 6885570 6888131 0.43 [{'connected_gene': 'SPSB2', 'score': 17.5}, {'connected_gene': 'ENO2', 'score': 12.85}, {'connected_gene': 'ATN1', 'score': 12.81}, {'connected_gene': 'USP5', 'score': 12.1}, {'connected_gene': 'CDCA3', 'score': 12.1}, {'connected_gene': 'C12orf57', 'score': 11.37}, {'connected_gene': 'RNU7-1', 'score': 11.37}, {'connected_gene': 'EMG1', 'score': 10.66}, {'connected_gene': 'SCARNA12', 'score': 10.66}, {'connected_gene': 'PHB2', 'score': 10.66}, {'connected_gene': 'DSTNP2', 'score': 0.77}, {'connected_gene': 'LOC105369632', 'score': 0.77}, {'connected_gene': 'LRRC23', 'score': 0.39}]
chr12 GH12I006762 6762790 6770018 2.61 [{'connected_gene': 'MLF2', 'score': 557.43}, {'connected_gene': 'PTMS', 'score': 552.92}, {'connected_gene': 'ENSG00000219410', 'score': 31.26}, {'connected_gene': 'ZNF384', 'score': 30.44}, {'connected_gene': 'CHD4', 'score': 28.54}, {'connected_gene': 'NCAPD2', 'score': 25.5}, {'connected_gene': 'EMG1', 'score': 21.1}, {'connected_gene': 'ENSG00000247853', 'score': 16.43}, {'connected_gene': 'PTPN6', 'score': 15.97}, {'connected_gene': 'SPSB2', 'score': 14.0}, {'connected_gene': 'GDF3', 'score': 11.46}, {'connected_gene': 'TNFRSF1A', 'score': 11.03}, {'connected_gene': 'C12orf57', 'score': 10.83}, {'connected_gene': 'C1RL-AS1', 'score': 10.71}, {'connected_gene': 'ENSG00000256967', 'score': 10.49}, {'connected_gene': 'PHB2', 'score': 10.44}, {'connected_gene': 'SCARNA12', 'score': 10.2}, {'connected_gene': 'P3H3', 'score': 10.16}, {'connected_gene': 'NOP2', 'score': 10.13}, {'connected_gene': 'LTBR', 'score': 10.02}, {'connected_gene': 'C1S', 'score': 9.84}, {'connected_gene': 'ENSG00000269892', 'score': 6.4}, {'connected_gene': 'COPS7A', 'score': 5.73}, {'connected_gene': 'ATN1', 'score': 2.51}, {'connected_gene': 'ENO2', 'score': 2.4}, {'connected_gene': 'PIANP', 'score': 2.05}, {'connected_gene': 'GPR162', 'score': 1.91}, {'connected_gene': 'CLSTN3', 'score': 1.27}]
chr12 GH12I006839 6839410 6841382 1.12 [{'connected_gene': 'GNB3', 'score': 575.92}, {'connected_gene': 'GC12M006839', 'score': 550.77}, {'connected_gene': 'SPSB2', 'score': 11.62}, {'connected_gene': 'ENO2', 'score': 6.66}, {'connected_gene': 'GC12P006844', 'score': 0.77}, {'connected_gene': 'P3H3', 'score': 0.39}]
chr12 GH12I006546 6546780 6557050 2.5 [{'connected_gene': 'IFFO1', 'score': 560.93}, {'connected_gene': 'CHD4', 'score': 26.4}, {'connected_gene': 'ENSG00000247853', 'score': 24.58}, {'connected_gene': 'ENSG00000219410', 'score': 23.86}, {'connected_gene': 'TAPBPL', 'score': 21.56}, {'connected_gene': 'ATN1', 'score': 19.18}, {'connected_gene': 'VAMP1', 'score': 16.76}, {'connected_gene': 'ZNF384', 'score': 15.38}, {'connected_gene': 'SCARNA11', 'score': 12.04}, {'connected_gene': 'SCARNA10', 'score': 11.49}, {'connected_gene': 'NCAPD2', 'score': 11.45}, {'connected_gene': 'NOP2', 'score': 10.48}, {'connected_gene': 'EMG1', 'score': 10.46}, {'connected_gene': 'ACRBP', 'score': 10.41}, {'connected_gene': 'ING4', 'score': 10.39}, {'connected_gene': 'P3H3', 'score': 10.16}, {'connected_gene': 'SCARNA12', 'score': 9.91}, {'connected_gene': 'LPAR5', 'score': 9.84}, {'connected_gene': 'GPR162', 'score': 2.67}, {'connected_gene': 'PIANP', 'score': 2.13}, {'connected_gene': 'ENO2', 'score': 1.16}, {'connected_gene': 'ENSG00000245667', 'score': 0.44}]
chr12 GH12I006913 6913688 6916181 2.14 [{'connected_gene': 'ENO2', 'score': 550.77}, {'connected_gene': 'LRRC23', 'score': 30.94}, {'connected_gene': 'ZNF384', 'score': 27.8}, {'connected_gene': 'ENSG00000247853', 'score': 27.19}, {'connected_gene': 'ENSG00000219410', 'score': 25.11}, {'connected_gene': 'CHD4', 'score': 13.61}, {'connected_gene': 'SPSB2', 'score': 13.25}, {'connected_gene': 'NCAPD2', 'score': 12.67}, {'connected_gene': 'P3H3', 'score': 10.15}, {'connected_gene': 'C1RL', 'score': 5.4}, {'connected_gene': 'ATN1', 'score': 0.44}]
chr12 GH12I006922 6922178 6923200 0.83 [{'connected_gene': 'ATN1', 'score': 550.77}, {'connected_gene': 'CDCA3', 'score': 7.1}, {'connected_gene': 'LRRC23', 'score': 4.7}, {'connected_gene': 'ENO2', 'score': 0.44}]
chr12 GH12I006919 6919737 6919846 0.46 [{'connected_gene': 'ATN1', 'score': 0.77}, {'connected_gene': 'ENO2', 'score': 0.44}]
chr12 GH12I006459 6459004 6465283 1.28 [{'connected_gene': 'ZNF384', 'score': 101.83}, {'connected_gene': 'ENSG00000219410', 'score': 89.06}, {'connected_gene': 'CHD4', 'score': 81.9}, {'connected_gene': 'ENSG00000247853', 'score': 68.25}, {'connected_gene': 'TAPBPL', 'score': 49.98}, {'connected_gene': 'MRPL51', 'score': 41.68}, {'connected_gene': 'NOP2', 'score': 38.06}, {'connected_gene': 'SCARNA12', 'score': 37.23}, {'connected_gene': 'VAMP1', 'score': 32.25}, {'connected_gene': 'P3H3', 'score': 26.86}, {'connected_gene': 'EMG1', 'score': 22.14}, {'connected_gene': 'ENSG00000256967', 'score': 21.53}, {'connected_gene': 'SPSB2', 'score': 20.15}, {'connected_gene': 'C12orf57', 'score': 19.14}, {'connected_gene': 'LRRC23', 'score': 19.05}, {'connected_gene': 'GNB3', 'score': 14.55}, {'connected_gene': 'NCAPD2', 'score': 13.23}, {'connected_gene': 'LAG3', 'score': 12.3}, {'connected_gene': 'C1RL-AS1', 'score': 11.91}, {'connected_gene': 'ENO2', 'score': 11.76}, {'connected_gene': 'RPL13P5', 'score': 10.71}, {'connected_gene': 'ENSG00000255966', 'score': 10.7}, {'connected_gene': 'GAPDH', 'score': 10.7}, {'connected_gene': 'ING4', 'score': 10.52}, {'connected_gene': 'DSTNP2', 'score': 10.5}, {'connected_gene': 'PHB2', 'score': 10.39}, {'connected_gene': 'PLEKHG6', 'score': 10.06}, {'connected_gene': 'C1S', 'score': 9.79}, {'connected_gene': 'ATN1', 'score': 9.74}, {'connected_gene': 'ENSG00000276718', 'score': 0.77}]
chr12 GH12I006610 6610796 6616199 1.73 [{'connected_gene': 'LOC105369631', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 21.61}, {'connected_gene': 'ENSG00000219410', 'score': 20.61}, {'connected_gene': 'ENSG00000247853', 'score': 16.64}, {'connected_gene': 'CHD4', 'score': 15.98}, {'connected_gene': 'NCAPD2', 'score': 15.82}, {'connected_gene': 'SPSB2', 'score': 13.94}, {'connected_gene': 'LOC100419928', 'score': 12.69}, {'connected_gene': 'TNFRSF1A', 'score': 11.04}, {'connected_gene': 'EMG1', 'score': 10.91}, {'connected_gene': 'C1RL-AS1', 'score': 10.7}, {'connected_gene': 'ENSG00000256967', 'score': 10.46}, {'connected_gene': 'NOP2', 'score': 10.31}, {'connected_gene': 'SCARNA12', 'score': 10.17}, {'connected_gene': 'LTBR', 'score': 10.04}, {'connected_gene': 'PIANP', 'score': 2.11}, {'connected_gene': 'GPR162', 'score': 2.1}, {'connected_gene': 'ENO2', 'score': 1.77}]
chr12 GH12I006903 6903939 6905825 1.93 [{'connected_gene': 'LRRC23', 'score': 588.57}, {'connected_gene': 'SPSB2', 'score': 34.18}, {'connected_gene': 'ENSG00000219410', 'score': 10.39}, {'connected_gene': 'CHD4', 'score': 10.07}, {'connected_gene': 'ENO2', 'score': 0.44}, {'connected_gene': 'ENSG00000275703', 'score': 0.44}]
chr12 GH12I006904 6903761 6903786 0.52 [{'connected_gene': 'ENSG00000275703', 'score': 0.77}, {'connected_gene': 'ENO2', 'score': 0.44}, {'connected_gene': 'LRRC23', 'score': 0.29}]
chr12 GH12I006899 6899557 6900599 0.93 [{'connected_gene': 'ENSG00000275703', 'score': 550.77}, {'connected_gene': 'LRRC23', 'score': 35.03}, {'connected_gene': 'SPSB2', 'score': 34.62}, {'connected_gene': 'ENO2', 'score': 0.39}]

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