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
ENST00000250489 [[20925877, 20926861], [20927364, 20927455], [20927546, 20927599], [20927786, 20927892], [20928350, 20928457], [20928813, 20929004], [20929342, 20929771]] [[20926717, 20926861], [20927364, 20927455], [20927546, 20927599], [20927786, 20927892], [20928350, 20928457], [20928813, 20929004], [20929342, 20929484]]
ENST00000553460 [[20926016, 20926505], [20926747, 20926861], [20927364, 20927455], [20927546, 20927599], [20927786, 20927850]] [[20926490, 20926505], [20926747, 20926861], [20927364, 20927455], [20927546, 20927599], [20927786, 20927850]]
ENST00000557041 [[20926016, 20927455], [20927546, 20929560]] None
ENST00000398020 [[20926016, 20926861], [20927364, 20927455], [20927546, 20927599], [20927786, 20927892], [20928350, 20928457], [20928813, 20929004], [20929321, 20929624]] [[20926717, 20926861], [20927364, 20927455], [20927546, 20927599], [20927786, 20927892], [20928350, 20928457], [20928813, 20929004], [20929321, 20929484]]
ENST00000554028 [[20926544, 20926861], [20927364, 20927455], [20927546, 20927599], [20927786, 20927892], [20928350, 20928901]] [[20926717, 20926861], [20927364, 20927455], [20927546, 20927599], [20927786, 20927831]]
ENST00000553602 [[20926775, 20926861], [20927364, 20927455], [20927546, 20927751]] None
ENST00000556093 [[20928419, 20928457], [20928813, 20929052]] [[20928419, 20928457], [20928813, 20928906]]
Promoter
Chrom Start End Description
chr14 20929570 20929610 CAGE_peak_1_at_TMEM55B_5end
chr14 20929630 20929641 CAGE_peak_2_at_TMEM55B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I020489 20487482 20487631 0.31 [{'connected_gene': 'PIP4P1', 'score': 11.53}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 11.1}, {'connected_gene': 'TEP1', 'score': 11.1}, {'connected_gene': 'ENSG00000258908', 'score': 0.39}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14 GH14I020487 20486062 20486211 0.31 [{'connected_gene': 'PIP4P1', 'score': 11.56}, {'connected_gene': 'RNASE11', 'score': 11.47}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 10.56}, {'connected_gene': 'TEP1', 'score': 10.56}, {'connected_gene': 'ENSG00000258908', 'score': 0.44}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14 GH14I020459 20459546 20463381 2.3 [{'connected_gene': 'PIP4P1', 'score': 561.03}, {'connected_gene': 'SUPT16H', 'score': 34.78}, {'connected_gene': 'METTL17', 'score': 28.96}, {'connected_gene': 'TEP1', 'score': 24.99}, {'connected_gene': 'CHD8', 'score': 22.62}, {'connected_gene': 'ENSG00000258515', 'score': 13.45}, {'connected_gene': 'RNA5SP382', 'score': 11.2}, {'connected_gene': 'APEX1', 'score': 10.8}, {'connected_gene': 'ZNF219', 'score': 10.17}]
chr14 GH14I021043 21043200 21045151 0.91 [{'connected_gene': 'RNASE7', 'score': 555.86}, {'connected_gene': 'PARP2', 'score': 13.42}, {'connected_gene': 'PIP4P1', 'score': 11.59}, {'connected_gene': 'NDRG2', 'score': 11.55}, {'connected_gene': 'ARHGEF40', 'score': 11.55}, {'connected_gene': 'ZNF219', 'score': 10.9}, {'connected_gene': 'TMEM253', 'score': 10.54}, {'connected_gene': 'ENSG00000258515', 'score': 9.82}, {'connected_gene': 'ENSG00000258768', 'score': 9.68}, {'connected_gene': 'LOC105370398', 'score': 0.44}]
chr14 GH14I020679 20679641 20689424 2.67 [{'connected_gene': 'RNASE4', 'score': 570.03}, {'connected_gene': 'ANG', 'score': 556.76}, {'connected_gene': 'TRP-TGG3-2', 'score': 550.77}, {'connected_gene': 'TRY-GTA5-5', 'score': 550.77}, {'connected_gene': 'PIR55020', 'score': 550.77}, {'connected_gene': 'ENSG00000259171', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 44.55}, {'connected_gene': 'ENSG00000258515', 'score': 38.75}, {'connected_gene': 'SUPT16H', 'score': 36.21}, {'connected_gene': 'CHD8', 'score': 32.71}, {'connected_gene': 'PARP2', 'score': 31.86}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 20.78}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'OSGEP', 'score': 16.13}, {'connected_gene': 'PNP', 'score': 15.64}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'METTL17', 'score': 15.06}, {'connected_gene': 'TEP1', 'score': 14.24}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'ENSG00000259001', 'score': 5.03}, {'connected_gene': 'ZNF219', 'score': 3.58}, {'connected_gene': 'NDRG2', 'score': 1.44}, {'connected_gene': 'ARHGEF40', 'score': 1.39}, {'connected_gene': 'GC14P020760', 'score': 0.77}, {'connected_gene': 'TRT-TGT5-1', 'score': 0.77}, {'connected_gene': 'PIR37991', 'score': 0.77}]
chr14 GH14I020426 20426762 20429453 1.49 [{'connected_gene': 'OSGEP', 'score': 19.2}, {'connected_gene': 'PNP', 'score': 16.34}, {'connected_gene': 'PIP4P1', 'score': 14.57}, {'connected_gene': 'APEX1', 'score': 12.05}, {'connected_gene': 'RNASE11', 'score': 11.1}, {'connected_gene': 'TEP1', 'score': 7.2}, {'connected_gene': 'KLHL33', 'score': 5.76}, {'connected_gene': 'RNASE6', 'score': 1.85}, {'connected_gene': 'RNASE3', 'score': 1.39}, {'connected_gene': 'GC14P020415', 'score': 0.39}]
chr14 GH14I020453 20453599 20457486 2.12 [{'connected_gene': 'OSGEP', 'score': 609.68}, {'connected_gene': 'APEX1', 'score': 598.25}, {'connected_gene': 'SUPT16H', 'score': 100.91}, {'connected_gene': 'METTL17', 'score': 100.48}, {'connected_gene': 'ENSG00000258515', 'score': 70.52}, {'connected_gene': 'TEP1', 'score': 42.76}, {'connected_gene': 'TTC5', 'score': 20.43}, {'connected_gene': 'PIP4P1', 'score': 19.81}, {'connected_gene': 'ZNF219', 'score': 18.84}, {'connected_gene': 'PNP', 'score': 14.42}, {'connected_gene': 'ENSG00000258768', 'score': 9.8}, {'connected_gene': 'CCNB1IP1', 'score': 9.76}]
chr14 GH14I020797 20797302 20797451 0.78 [{'connected_gene': 'PNP', 'score': 8.85}, {'connected_gene': 'PIP4P1', 'score': 2.26}, {'connected_gene': 'ARHGEF40', 'score': 1.55}, {'connected_gene': 'OR6S1', 'score': 1.35}, {'connected_gene': 'OR5AU1', 'score': 1.33}, {'connected_gene': 'HNRNPC', 'score': 1.25}, {'connected_gene': 'RNASE1', 'score': 0.44}, {'connected_gene': 'LOC105370397', 'score': 0.44}]
chr14 GH14I020486 20486811 20487351 0.54 [{'connected_gene': 'PNP', 'score': 15.05}, {'connected_gene': 'PIP4P1', 'score': 11.53}, {'connected_gene': 'APEX1', 'score': 11.25}, {'connected_gene': 'OSGEP', 'score': 11.25}, {'connected_gene': 'RNA5SP382', 'score': 10.24}, {'connected_gene': 'TEP1', 'score': 10.24}, {'connected_gene': 'ENSG00000258908', 'score': 0.44}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14 GH14I020488 20488574 20492267 1.38 [{'connected_gene': 'PNP', 'score': 28.82}, {'connected_gene': 'PIP4P1', 'score': 11.53}, {'connected_gene': 'RNA5SP382', 'score': 11.09}, {'connected_gene': 'TEP1', 'score': 11.09}, {'connected_gene': 'OR4L1', 'score': 1.82}, {'connected_gene': 'ENSG00000258908', 'score': 0.39}, {'connected_gene': 'RNASE10', 'score': 0.37}]
chr14 GH14I020848 20848355 20849670 1.1 [{'connected_gene': 'PNP', 'score': 16.68}, {'connected_gene': 'EDDM3B', 'score': 11.58}, {'connected_gene': 'PIP4P1', 'score': 3.1}, {'connected_gene': 'ARHGEF40', 'score': 2.76}, {'connected_gene': 'RNASE6', 'score': 1.42}, {'connected_gene': 'TEP1', 'score': 1.21}, {'connected_gene': 'ENSG00000259130', 'score': 0.34}, {'connected_gene': 'GC14P020814', 'score': 0.29}]
chr14 GH14I020618 20618201 20618400 0.69 [{'connected_gene': 'RPS26P9', 'score': 550.77}, {'connected_gene': 'ANG', 'score': 11.55}, {'connected_gene': 'RNA5SP382', 'score': 10.68}, {'connected_gene': 'TEP1', 'score': 10.68}, {'connected_gene': 'PNP', 'score': 10.65}, {'connected_gene': 'PIP4P1', 'score': 10.64}, {'connected_gene': 'GC14P020627', 'score': 0.44}, {'connected_gene': 'PIR59363', 'score': 0.44}]
chr14 GH14I020396 20396670 20398216 0.51 [{'connected_gene': 'RNASE10', 'score': 11.15}, {'connected_gene': 'SNORD126', 'score': 11.01}, {'connected_gene': 'PIP4P1', 'score': 10.81}, {'connected_gene': 'PNP', 'score': 10.8}, {'connected_gene': 'ENSG00000258768', 'score': 6.71}, {'connected_gene': 'ENSG00000258515', 'score': 4.92}, {'connected_gene': 'TEP1', 'score': 0.37}, {'connected_gene': 'ENSG00000254846', 'score': 0.23}]
chr14 GH14I020424 20424187 20425785 0.2 [{'connected_gene': 'APEX1', 'score': 11.92}, {'connected_gene': 'OSGEP', 'score': 11.92}, {'connected_gene': 'PIP4P1', 'score': 11.9}, {'connected_gene': 'PNP', 'score': 10.97}, {'connected_gene': 'RNASE11', 'score': 10.58}, {'connected_gene': 'TEP1', 'score': 7.07}, {'connected_gene': 'KLHL33', 'score': 5.59}, {'connected_gene': 'GC14P020415', 'score': 0.44}]
chr14 GH14I021263 21263242 21270866 2.49 [{'connected_gene': 'HNRNPC', 'score': 566.13}, {'connected_gene': 'SUPT16H', 'score': 57.4}, {'connected_gene': 'METTL3', 'score': 52.13}, {'connected_gene': 'CHD8', 'score': 37.22}, {'connected_gene': 'METTL17', 'score': 24.53}, {'connected_gene': 'ENSG00000258515', 'score': 14.67}, {'connected_gene': 'PIP4P1', 'score': 10.82}, {'connected_gene': 'RAB2B', 'score': 10.34}, {'connected_gene': 'APEX1', 'score': 9.68}, {'connected_gene': 'TRAV8-5', 'score': 5.61}, {'connected_gene': 'TOX4', 'score': 4.47}, {'connected_gene': 'GC14P021259', 'score': 0.44}]
chr14 GH14I020609 20608942 20610757 1.57 [{'connected_gene': 'RNASE11', 'score': 550.77}, {'connected_gene': 'ENSG00000259060', 'score': 550.77}, {'connected_gene': 'TRL-AAG2-3', 'score': 550.77}, {'connected_gene': 'TRP-AGG2-5', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'SUPT16H', 'score': 31.81}, {'connected_gene': 'METTL3', 'score': 26.36}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'ENSG00000258515', 'score': 21.74}, {'connected_gene': 'CHD8', 'score': 20.56}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.55}, {'connected_gene': 'METTL17', 'score': 11.27}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'CCNB1IP1', 'score': 10.83}]
chr14 GH14I020714 20714146 20716666 1.1 [{'connected_gene': 'EDDM3A', 'score': 20.13}, {'connected_gene': 'RNASE6', 'score': 16.87}, {'connected_gene': 'ENSG00000258515', 'score': 15.13}, {'connected_gene': 'METTL3', 'score': 14.65}, {'connected_gene': 'SUPT16H', 'score': 12.62}, {'connected_gene': 'METTL17', 'score': 12.03}, {'connected_gene': 'EDDM3B', 'score': 11.48}, {'connected_gene': 'RNASE1', 'score': 11.25}, {'connected_gene': 'ANG', 'score': 10.4}, {'connected_gene': 'ARHGEF40', 'score': 2.36}, {'connected_gene': 'PNP', 'score': 1.98}, {'connected_gene': 'TEP1', 'score': 1.9}, {'connected_gene': 'PIP4P1', 'score': 1.72}, {'connected_gene': 'PIR39681', 'score': 0.44}, {'connected_gene': 'GC14M020723', 'score': 0.44}, {'connected_gene': 'ENSG00000258451', 'score': 0.44}]
chr14 GH14I020341 20341709 20344698 2.1 [{'connected_gene': 'PARP2', 'score': 582.44}, {'connected_gene': 'RPPH1', 'score': 550.77}, {'connected_gene': 'ENSG00000259001', 'score': 550.77}, {'connected_gene': 'METTL17', 'score': 32.29}, {'connected_gene': 'ENSG00000258768', 'score': 22.92}, {'connected_gene': 'TEP1', 'score': 22.28}, {'connected_gene': 'ENSG00000258515', 'score': 21.78}, {'connected_gene': 'PIP4P1', 'score': 21.29}, {'connected_gene': 'APEX1', 'score': 17.82}, {'connected_gene': 'HNRNPC', 'score': 15.38}, {'connected_gene': 'ENSG00000254846', 'score': 0.77}, {'connected_gene': 'CCNB1IP1', 'score': 0.44}]
chr14 GH14I021297 21297364 21299042 0.75 [{'connected_gene': 'PARP2', 'score': 13.42}, {'connected_gene': 'RPGRIP1', 'score': 12.5}, {'connected_gene': 'PIP4P1', 'score': 11.59}, {'connected_gene': 'HNRNPC', 'score': 11.36}, {'connected_gene': 'SNORD9', 'score': 10.65}, {'connected_gene': 'SNORD8', 'score': 10.64}, {'connected_gene': 'UBA52P2', 'score': 10.64}, {'connected_gene': 'ENSG00000258515', 'score': 9.82}, {'connected_gene': 'SALL2', 'score': 8.79}, {'connected_gene': 'MRPS17P6', 'score': 0.44}, {'connected_gene': 'ENSG00000260830', 'score': 0.17}]
chr14 GH14I020662 20662801 20664600 1.25 [{'connected_gene': 'TRY-GTA5-4', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 41.16}, {'connected_gene': 'ENSG00000258515', 'score': 30.49}, {'connected_gene': 'SUPT16H', 'score': 27.05}, {'connected_gene': 'TTC5', 'score': 21.96}, {'connected_gene': 'PIP4P1', 'score': 19.83}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'METTL3', 'score': 14.14}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'OSGEP', 'score': 12.52}, {'connected_gene': 'CHD8', 'score': 12.3}, {'connected_gene': 'OR6S1', 'score': 12.09}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'RNASE4', 'score': 6.58}, {'connected_gene': 'GC14M020668', 'score': 0.77}]
chr14 GH14I020652 20652839 20653599 1.13 [{'connected_gene': 'TRY-GTA5-3', 'score': 550.77}, {'connected_gene': 'GC14P020654', 'score': 550.77}, {'connected_gene': 'ENSG00000258515', 'score': 21.72}, {'connected_gene': 'PARP2', 'score': 21.46}, {'connected_gene': 'PIP4P1', 'score': 20.19}, {'connected_gene': 'SUPT16H', 'score': 18.68}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'METTL3', 'score': 14.14}, {'connected_gene': 'CHD8', 'score': 12.3}, {'connected_gene': 'ANG', 'score': 11.46}]
chr14 GH14I020629 20629942 20634171 1.25 [{'connected_gene': 'TRT-TGT4-1', 'score': 550.77}, {'connected_gene': 'GC14M020647', 'score': 550.77}, {'connected_gene': 'TRP-TGG1-1', 'score': 550.77}, {'connected_gene': 'GC14P020634', 'score': 550.77}, {'connected_gene': 'ENSG00000258515', 'score': 35.73}, {'connected_gene': 'PARP2', 'score': 21.47}, {'connected_gene': 'SUPT16H', 'score': 18.68}, {'connected_gene': 'ENSG00000258768', 'score': 18.52}, {'connected_gene': 'OSGEP', 'score': 17.44}, {'connected_gene': 'METTL3', 'score': 14.14}, {'connected_gene': 'CHD8', 'score': 12.3}, {'connected_gene': 'PIP4P1', 'score': 11.66}]
chr14 GH14I020657 20657201 20658253 1.2 [{'connected_gene': 'TRY-GTA4-1', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 77.67}, {'connected_gene': 'SUPT16H', 'score': 63.34}, {'connected_gene': 'METTL17', 'score': 47.65}, {'connected_gene': 'ENSG00000258515', 'score': 44.33}, {'connected_gene': 'PARP2', 'score': 35.88}, {'connected_gene': 'TTC5', 'score': 33.01}, {'connected_gene': 'CHD8', 'score': 29.8}, {'connected_gene': 'RAB2B', 'score': 28.62}, {'connected_gene': 'ENSG00000258768', 'score': 28.21}, {'connected_gene': 'OSGEP', 'score': 22.97}, {'connected_gene': 'TEP1', 'score': 22.29}, {'connected_gene': 'PIP4P1', 'score': 19.79}, {'connected_gene': 'LINC00641', 'score': 15.57}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'ANG', 'score': 11.61}, {'connected_gene': 'CCNB1IP1', 'score': 10.82}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'APEX1', 'score': 9.77}, {'connected_gene': 'TRY-GTA7-1', 'score': 0.77}]
chr14 GH14I020612 20612050 20615363 1.3 [{'connected_gene': 'TRP-AGG2-6', 'score': 550.77}, {'connected_gene': 'TRT-TGT3-1', 'score': 550.77}, {'connected_gene': 'GC14M020645', 'score': 550.77}, {'connected_gene': 'ENSG00000258515', 'score': 41.93}, {'connected_gene': 'METTL3', 'score': 38.68}, {'connected_gene': 'SUPT16H', 'score': 31.99}, {'connected_gene': 'PARP2', 'score': 31.87}, {'connected_gene': 'ENSG00000258768', 'score': 27.76}, {'connected_gene': 'CHD8', 'score': 25.02}, {'connected_gene': 'OSGEP', 'score': 24.4}, {'connected_gene': 'TTC5', 'score': 21.97}, {'connected_gene': 'PIP4P1', 'score': 19.86}, {'connected_gene': 'METTL17', 'score': 16.21}, {'connected_gene': 'ENSG00000260830', 'score': 12.65}, {'connected_gene': 'RAB2B', 'score': 10.93}, {'connected_gene': 'APEX1', 'score': 9.73}]
chr14 GH14I020659 20659882 20660031 0.46 [{'connected_gene': 'TRY-GTA7-1', 'score': 550.77}, {'connected_gene': 'PARP2', 'score': 13.45}, {'connected_gene': 'ANG', 'score': 11.67}, {'connected_gene': 'PIP4P1', 'score': 11.65}, {'connected_gene': 'ENSG00000258515', 'score': 9.87}, {'connected_gene': 'ENSG00000258768', 'score': 9.7}, {'connected_gene': 'TRY-GTA4-1', 'score': 0.77}]
chr14 GH14I020622 20622801 20626696 1.24 [{'connected_gene': 'GC14P020627', 'score': 550.77}, {'connected_gene': 'TRL-TAG2-1', 'score': 550.77}, {'connected_gene': 'PIR59363', 'score': 550.77}, {'connected_gene': 'METTL3', 'score': 88.47}, {'connected_gene': 'SUPT16H', 'score': 70.11}, {'connected_gene': 'METTL17', 'score': 61.1}, {'connected_gene': 'ENSG00000258515', 'score': 58.38}, {'connected_gene': 'CHD8', 'score': 55.58}, {'connected_gene': 'PARP2', 'score': 44.51}, {'connected_gene': 'TEP1', 'score': 44.16}, {'connected_gene': 'ENSG00000258768', 'score': 30.24}, {'connected_gene': 'OSGEP', 'score': 24.71}, {'connected_gene': 'APEX1', 'score': 21.77}, {'connected_gene': 'PIP4P1', 'score': 19.85}, {'connected_gene': 'TOX4', 'score': 13.64}, {'connected_gene': 'SALL2', 'score': 12.58}, {'connected_gene': 'ANG', 'score': 12.21}, {'connected_gene': 'TTC5', 'score': 11.2}, {'connected_gene': 'HNRNPC', 'score': 10.97}, {'connected_gene': 'SNORA79B', 'score': 10.05}, {'connected_gene': 'RPS26P9', 'score': 0.44}]

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