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
ENST00000416256 [[21944755, 21944906], [21945654, 21945723], [21955609, 21955852], [21956748, 21957009]] [[21944813, 21944906], [21945654, 21945723], [21955609, 21955852], [21956748, 21957009]]
ENST00000405508 [[21944913, 21945032], [21945280, 21945443], [21945654, 21945723], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21967319]] [[21945437, 21945443], [21945654, 21945723], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21964764]]
ENST00000262709 [[21945334, 21945443], [21945654, 21945723], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21967315]] [[21945437, 21945443], [21945654, 21945723], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21964764]]
ENST00000476180 [[21945340, 21945443], [21945654, 21945723], [21955609, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21964385]] None
ENST00000455393 [[21945361, 21945443], [21945654, 21945723], [21955609, 21955761], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21964913]] [[21945437, 21945443], [21945654, 21945723], [21955609, 21955761], [21956748, 21956767]]
ENST00000447695 [[21945382, 21945443], [21945654, 21945723], [21950710, 21950770], [21955609, 21955852], [21956748, 21956948]] [[21945437, 21945443], [21945654, 21945723], [21950710, 21950767]]
ENST00000457430 [[21945382, 21945443], [21955609, 21955852], [21956748, 21957009]] [[21945437, 21945443], [21955609, 21955852], [21956748, 21957009]]
ENST00000448790 [[21945382, 21945443], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21964929]] [[21945437, 21945443], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21964764]]
ENST00000494242 [[21945391, 21945443], [21945654, 21945723], [21955609, 21956019], [21956748, 21956867]] None
ENST00000455138 [[21945396, 21945443], [21945654, 21945751], [21955609, 21955852], [21956748, 21956910]] [[21945437, 21945443], [21945654, 21945751], [21955609, 21955635]]
ENST00000487242 [[21945422, 21945723], [21955609, 21955852]] None
ENST00000473176 [[21956716, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21960765]] None
ENST00000463119 [[21960255, 21960535], [21960666, 21960971]] None
NM_001303523 [[21945334, 21945443], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21967321]] [[21945437, 21945443], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21964764]]
NM_014828 [[21945334, 21945443], [21945654, 21945723], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21967321]] [[21945437, 21945443], [21945654, 21945723], [21955609, 21955852], [21956748, 21957009], [21957331, 21957562], [21960454, 21960535], [21960666, 21961416], [21963387, 21963551], [21964703, 21964764]]
Promoter
Chrom Start End Description
chr14 21945335 21945419 CAGE_peak_1_at_TOX4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I021475 21475633 21478499 2.08 [{'connected_gene': 'TOX4', 'score': 563.11}, {'connected_gene': 'RAB2B', 'score': 560.15}, {'connected_gene': 'METTL17', 'score': 32.52}, {'connected_gene': 'METTL3', 'score': 31.08}, {'connected_gene': 'SUPT16H', 'score': 27.8}, {'connected_gene': 'CHD8', 'score': 23.35}, {'connected_gene': 'PIR42881', 'score': 0.31}]
chr14 GH14I021495 21495542 21495651 0.52 [{'connected_gene': 'TOX4', 'score': 13.65}, {'connected_gene': 'PIR42881', 'score': 0.44}, {'connected_gene': 'RAB2B', 'score': 0.37}]
chr13 GH13I046159 46159526 46162582 1.36 [{'connected_gene': 'LCP1', 'score': 11.87}, {'connected_gene': 'RUBCNL', 'score': 5.86}, {'connected_gene': 'ZC3H13', 'score': 1.28}, {'connected_gene': 'RN7SL288P', 'score': 0.44}, {'connected_gene': 'ENSG00000278937', 'score': 0.26}]
chr13 GH13I046163 46163889 46185703 2.49 [{'connected_gene': 'LCP1', 'score': 571.32}, {'connected_gene': 'ERICH6B', 'score': 16.87}, {'connected_gene': 'COG3', 'score': 15.73}, {'connected_gene': 'RNU2-6P', 'score': 10.26}, {'connected_gene': 'RUBCNL', 'score': 8.44}, {'connected_gene': 'LRRC63', 'score': 7.57}, {'connected_gene': 'TPT1-AS1', 'score': 7.38}, {'connected_gene': 'ZC3H13', 'score': 1.71}, {'connected_gene': 'RN7SL288P', 'score': 0.44}, {'connected_gene': 'LOC105370192', 'score': 0.39}]
chr13 GH13I046293 46293406 46298199 1.52 [{'connected_gene': 'LCP1', 'score': 9.53}, {'connected_gene': 'LINC01198', 'score': 4.48}, {'connected_gene': 'RUBCNL', 'score': 3.48}, {'connected_gene': 'ZC3H13', 'score': 1.95}, {'connected_gene': 'LINC00563', 'score': 0.77}, {'connected_gene': 'GC13P046277', 'score': 0.37}, {'connected_gene': 'LOC105370194', 'score': 0.31}, {'connected_gene': 'GC13M046284', 'score': 0.25}]
chr13 GH13I046354 46354158 46355943 1.49 [{'connected_gene': 'COG3', 'score': 15.12}, {'connected_gene': 'LINC01198', 'score': 12.13}, {'connected_gene': 'LRCH1', 'score': 10.8}, {'connected_gene': 'LCP1', 'score': 3.53}, {'connected_gene': 'RUBCNL', 'score': 2.72}, {'connected_gene': 'GC13M046284', 'score': 0.44}, {'connected_gene': 'RNU2-6P', 'score': 0.37}, {'connected_gene': 'GC13M046376', 'score': 0.37}]
chr13 GH13I046147 46147403 46156880 0.7 [{'connected_gene': 'COG3', 'score': 5.94}, {'connected_gene': 'TPT1-AS1', 'score': 5.7}, {'connected_gene': 'RN7SL288P', 'score': 0.37}, {'connected_gene': 'ENSG00000278937', 'score': 0.29}, {'connected_gene': 'LCP1', 'score': 0.22}]
chr13 GH13I046403 46403601 46405879 1.24 [{'connected_gene': 'OR7E101P', 'score': 18.54}, {'connected_gene': 'LCP1', 'score': 18.48}, {'connected_gene': 'RNU2-6P', 'score': 12.15}, {'connected_gene': 'LINC01198', 'score': 11.25}, {'connected_gene': 'RUBCNL', 'score': 7.43}, {'connected_gene': 'ZC3H13', 'score': 1.91}, {'connected_gene': 'GC13P046411', 'score': 0.44}, {'connected_gene': 'GC13P046380', 'score': 0.34}]
chr13 GH13I046338 46338463 46342319 1.38 [{'connected_gene': 'OR7E101P', 'score': 20.66}, {'connected_gene': 'LINC01198', 'score': 12.04}, {'connected_gene': 'RNU2-6P', 'score': 11.85}, {'connected_gene': 'LCP1', 'score': 3.51}, {'connected_gene': 'RUBCNL', 'score': 1.62}, {'connected_gene': 'GC13M046284', 'score': 0.44}, {'connected_gene': 'LOC105370194', 'score': 0.37}]
chr13 GH13I046372 46372727 46391611 2.59 [{'connected_gene': 'RUBCNL', 'score': 554.53}, {'connected_gene': 'GC13P046380', 'score': 550.77}, {'connected_gene': 'OR7E101P', 'score': 19.03}, {'connected_gene': 'COG3', 'score': 16.63}, {'connected_gene': 'LINC01198', 'score': 16.47}, {'connected_gene': 'LRCH1', 'score': 10.46}, {'connected_gene': 'LCP1', 'score': 2.31}, {'connected_gene': 'GC13M046376', 'score': 0.44}, {'connected_gene': 'RNU2-6P', 'score': 0.44}, {'connected_gene': 'GC13P046411', 'score': 0.31}]
chr14 GH14I021466 21466986 21468218 0.38 [{'connected_gene': 'UBA52P2', 'score': 10.63}, {'connected_gene': 'SNORD8', 'score': 10.62}, {'connected_gene': 'SNORD9', 'score': 10.61}, {'connected_gene': 'SALL2', 'score': 10.35}, {'connected_gene': 'RAB2B', 'score': 8.47}, {'connected_gene': 'TOX4', 'score': 0.44}, {'connected_gene': 'CHD8', 'score': 0.39}]
chr13 GH13I046199 46199426 46200894 0.86 [{'connected_gene': 'RCN1P2', 'score': 13.13}, {'connected_gene': 'COG3', 'score': 10.6}, {'connected_gene': 'ESD', 'score': 10.15}, {'connected_gene': 'RNU2-6P', 'score': 9.95}, {'connected_gene': 'LRRC63', 'score': 5.25}, {'connected_gene': 'LOC105370192', 'score': 0.39}, {'connected_gene': 'LCP1', 'score': 0.39}]
chr14 GH14I021486 21486406 21487183 0.31 [{'connected_gene': 'CHD8', 'score': 11.67}, {'connected_gene': 'ENSG00000257096', 'score': 11.65}, {'connected_gene': 'SALL2', 'score': 11.59}, {'connected_gene': 'UBA52P2', 'score': 9.98}, {'connected_gene': 'SNORD8', 'score': 9.98}, {'connected_gene': 'SNORD9', 'score': 9.97}, {'connected_gene': 'TOX4', 'score': 7.61}, {'connected_gene': 'RAB2B', 'score': 0.44}, {'connected_gene': 'PIR42881', 'score': 0.37}]
chr14 GH14I021436 21436128 21438617 2.06 [{'connected_gene': 'CHD8', 'score': 550.37}, {'connected_gene': 'SUPT16H', 'score': 21.66}, {'connected_gene': 'METTL3', 'score': 21.25}, {'connected_gene': 'UBA52P2', 'score': 11.26}, {'connected_gene': 'SNORD8', 'score': 11.26}, {'connected_gene': 'SNORD9', 'score': 11.23}, {'connected_gene': 'METTL17', 'score': 10.93}, {'connected_gene': 'ENSG00000257096', 'score': 10.34}, {'connected_gene': 'SALL2', 'score': 10.32}, {'connected_gene': 'TOX4', 'score': 4.92}, {'connected_gene': 'RN7SL650P', 'score': 0.44}]
chr14 GH14I021454 21454547 21457467 1.55 [{'connected_gene': 'CHD8', 'score': 560.57}, {'connected_gene': 'SUPT16H', 'score': 19.91}, {'connected_gene': 'HNRNPC', 'score': 15.44}, {'connected_gene': 'PNP', 'score': 14.05}, {'connected_gene': 'METTL3', 'score': 11.13}, {'connected_gene': 'UBA52P2', 'score': 11.02}, {'connected_gene': 'SNORD8', 'score': 11.02}, {'connected_gene': 'SNORD9', 'score': 11.0}, {'connected_gene': 'ENSG00000257096', 'score': 10.6}, {'connected_gene': 'SALL2', 'score': 10.57}, {'connected_gene': 'TOX4', 'score': 8.7}, {'connected_gene': 'RAB2B', 'score': 7.69}, {'connected_gene': 'RN7SL650P', 'score': 0.31}]
chr14 GH14I021509 21509911 21512278 2.08 [{'connected_gene': 'METTL3', 'score': 564.3}, {'connected_gene': 'SUPT16H', 'score': 19.31}, {'connected_gene': 'CHD8', 'score': 18.74}, {'connected_gene': 'HNRNPC', 'score': 15.42}, {'connected_gene': 'METTL17', 'score': 15.03}, {'connected_gene': 'TOX4', 'score': 12.18}, {'connected_gene': 'PIR42881', 'score': 0.44}]
chr14 GH14I021068 21068537 21073552 2.44 [{'connected_gene': 'ARHGEF40', 'score': 579.42}, {'connected_gene': 'NDRG2', 'score': 550.77}, {'connected_gene': 'TMEM253', 'score': 12.12}, {'connected_gene': 'ZNF219', 'score': 12.1}, {'connected_gene': 'RNASE7', 'score': 10.89}, {'connected_gene': 'TPPP2', 'score': 10.66}, {'connected_gene': 'RNASE13', 'score': 10.38}, {'connected_gene': 'ENSG00000255472', 'score': 10.38}, {'connected_gene': 'RNASE6', 'score': 2.28}, {'connected_gene': 'TOX4', 'score': 1.78}, {'connected_gene': 'HNRNPC', 'score': 1.69}, {'connected_gene': 'PIR44581', 'score': 0.34}]
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}]
chr13 GH13I046664 46664402 46669653 1.5 [{'connected_gene': 'LRCH1', 'score': 20.84}, {'connected_gene': 'LCP1', 'score': 1.31}, {'connected_gene': 'RUBCNL', 'score': 1.2}, {'connected_gene': 'GC13P046617', 'score': 0.25}, {'connected_gene': 'ENSG00000278462', 'score': 0.23}]
chr13 GH13I046551 46551913 46556346 2.5 [{'connected_gene': 'LRCH1', 'score': 558.09}, {'connected_gene': 'RUBCNL', 'score': 7.01}, {'connected_gene': 'LINC01198', 'score': 5.09}, {'connected_gene': 'LCP1', 'score': 1.81}, {'connected_gene': 'GC13P046577', 'score': 0.34}]
chr13 GH13I046114 46114545 46114976 0.58 [{'connected_gene': 'ZC3H13', 'score': 12.16}, {'connected_gene': 'LCP1', 'score': 2.49}, {'connected_gene': 'ENSG00000278937', 'score': 0.77}, {'connected_gene': 'CPB2', 'score': 0.44}]
chr13 GH13I046123 46123791 46127536 1.27 [{'connected_gene': 'ZC3H13', 'score': 13.03}, {'connected_gene': 'ENSG00000278937', 'score': 0.44}, {'connected_gene': 'RN7SL288P', 'score': 0.26}, {'connected_gene': 'LCP1', 'score': 0.17}]
chr13 GH13I046138 46138918 46142482 0.2 [{'connected_gene': 'ZC3H13', 'score': 12.09}, {'connected_gene': 'TPT1-AS1', 'score': 4.16}, {'connected_gene': 'ENSG00000278937', 'score': 0.34}, {'connected_gene': 'RN7SL288P', 'score': 0.31}, {'connected_gene': 'LCP1', 'score': 0.19}]
chr13 GH13I046210 46210386 46212487 2.12 [{'connected_gene': 'LRRC63', 'score': 559.15}, {'connected_gene': 'LCP1', 'score': 550.77}, {'connected_gene': 'LOC105370192', 'score': 0.34}]
chr14 GH14I021381 21381781 21386117 2.1 [{'connected_gene': 'SUPT16H', 'score': 572.48}, {'connected_gene': 'ENSG00000260830', 'score': 550.77}, {'connected_gene': 'METTL17', 'score': 32.86}, {'connected_gene': 'METTL3', 'score': 28.8}, {'connected_gene': 'TEP1', 'score': 24.51}, {'connected_gene': 'CHD8', 'score': 20.16}, {'connected_gene': 'APEX1', 'score': 15.54}, {'connected_gene': 'TOX4', 'score': 8.34}, {'connected_gene': 'GC14M021386', 'score': 0.77}, {'connected_gene': 'MRPS17P6', 'score': 0.16}]
chr13 GH13I046143 46143266 46143415 1.12 [{'connected_gene': 'RN7SL288P', 'score': 0.31}, {'connected_gene': 'ENSG00000278937', 'score': 0.31}, {'connected_gene': 'LCP1', 'score': 0.2}]
chr13 GH13I046187 46187423 46187739 0.26 [{'connected_gene': 'LOC105370192', 'score': 550.77}, {'connected_gene': 'SPERT', 'score': 40.06}, {'connected_gene': 'RN7SL288P', 'score': 0.37}, {'connected_gene': 'LCP1', 'score': 0.34}]
chr13 GH13I046368 46368962 46370883 1.26 [{'connected_gene': 'LINC01198', 'score': 16.36}, {'connected_gene': 'LCP1', 'score': 1.53}, {'connected_gene': 'RUBCNL', 'score': 1.43}, {'connected_gene': 'RNU2-6P', 'score': 0.77}, {'connected_gene': 'GC13M046376', 'score': 0.77}, {'connected_gene': 'GC13M046284', 'score': 0.34}]
chr13 GH13I046352 46352806 46353096 0.51 [{'connected_gene': 'RNU2-6P', 'score': 12.3}, {'connected_gene': 'LCP1', 'score': 2.03}, {'connected_gene': 'GC13M046284', 'score': 0.44}, {'connected_gene': 'GC13M046376', 'score': 0.34}, {'connected_gene': 'RUBCNL', 'score': 0.17}]
chr13 GH13I046310 46310275 46310383 0.22 [{'connected_gene': 'RNU2-6P', 'score': 10.31}, {'connected_gene': 'LCP1', 'score': 2.44}, {'connected_gene': 'ZC3H13', 'score': 1.81}, {'connected_gene': 'LOC105370194', 'score': 0.39}, {'connected_gene': 'LINC00563', 'score': 0.39}, {'connected_gene': 'GC13M046284', 'score': 0.28}]
chr13 GH13I046201 46201878 46202977 0.43 [{'connected_gene': 'RNU2-6P', 'score': 9.95}, {'connected_gene': 'LCP1', 'score': 0.44}, {'connected_gene': 'LOC105370192', 'score': 0.39}]
chr13 GH13I046197 46197383 46199356 0.86 [{'connected_gene': 'RNU2-6P', 'score': 9.95}, {'connected_gene': 'LRRC63', 'score': 7.21}, {'connected_gene': 'LOC105370192', 'score': 0.39}, {'connected_gene': 'LCP1', 'score': 0.39}]
chr13 GH13I046194 46194666 46195748 0.4 [{'connected_gene': 'RNU2-6P', 'score': 9.95}, {'connected_gene': 'LRRC63', 'score': 7.06}, {'connected_gene': 'LOC105370192', 'score': 0.44}, {'connected_gene': 'LCP1', 'score': 0.37}]
chr13 GH13I046144 46144015 46145712 0.2 [{'connected_gene': 'TPT1-AS1', 'score': 4.16}, {'connected_gene': 'RN7SL288P', 'score': 0.34}, {'connected_gene': 'ENSG00000278937', 'score': 0.31}, {'connected_gene': 'LCP1', 'score': 0.2}]
chr14 GH14I021496 21496262 21496960 0.2 [{'connected_gene': 'PIR42881', 'score': 0.44}, {'connected_gene': 'RAB2B', 'score': 0.37}, {'connected_gene': 'TOX4', 'score': 0.34}]
chr14 GH14I021498 21498451 21499286 0.7 [{'connected_gene': 'ENSG00000257096', 'score': 11.7}, {'connected_gene': 'SALL2', 'score': 11.64}, {'connected_gene': 'TOX4', 'score': 9.49}, {'connected_gene': 'PIR42881', 'score': 0.77}, {'connected_gene': 'METTL3', 'score': 0.39}, {'connected_gene': 'RAB2B', 'score': 0.34}]
chr13 GH13I046128 46128599 46133554 0.2 [{'connected_gene': 'ENSG00000278937', 'score': 0.39}, {'connected_gene': 'RN7SL288P', 'score': 0.28}, {'connected_gene': 'LCP1', 'score': 0.18}]
chr13 GH13I046137 46137653 46138790 0.38 [{'connected_gene': 'ENSG00000278937', 'score': 0.34}, {'connected_gene': 'RN7SL288P', 'score': 0.29}, {'connected_gene': 'LCP1', 'score': 0.19}]
chr13 GH13I046133 46133946 46136521 1.04 [{'connected_gene': 'ENSG00000278937', 'score': 0.37}, {'connected_gene': 'RN7SL288P', 'score': 0.29}, {'connected_gene': 'LCP1', 'score': 0.18}]
chr13 GH13I046127 46127806 46127955 0.51 [{'connected_gene': 'ENSG00000278937', 'score': 0.39}, {'connected_gene': 'RN7SL288P', 'score': 0.26}, {'connected_gene': 'LCP1', 'score': 0.18}]
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}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.