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
ENST00000559460 [[67356100, 67356282], [67457232, 67457426], [67457590, 67457722], [67459116, 67459176]] [[67457341, 67457426], [67457590, 67457722], [67459116, 67459176]]
ENST00000327367 [[67358182, 67358698], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67487533]] [[67358492, 67358698], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67482874]]
ENST00000559937 [[67370323, 67370379], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67463013]] None
ENST00000559092 [[67390919, 67391362], [67457232, 67457373]] [[67391211, 67391362]]
ENST00000560175 [[67391016, 67391106], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942]] [[67457341, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942]]
ENST00000540846 [[67418053, 67418322], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67483100]] [[67457341, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67482874]]
ENST00000558894 [[67420440, 67420489], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67479702, 67479785]] [[67457341, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67479702, 67479785]]
ENST00000439724 [[67430338, 67430438], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67483232]] [[67430364, 67430438], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67482874]]
ENST00000558739 [[67430572, 67430860], [67457232, 67457426], [67457590, 67457694]] [[67457341, 67457426], [67457590, 67457694]]
ENST00000537194 [[67458356, 67458531], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67483100]] [[67459169, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67482874]]
ENST00000558428 [[67458868, 67459191], [67462891, 67462942], [67473578, 67473758]] [[67459169, 67459191], [67462891, 67462942], [67473578, 67473758]]
ENST00000558827 [[67458868, 67459029], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477116]] [[67459169, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477116]]
ENST00000560402 [[67466640, 67466922], [67485210, 67485518]] None
ENST00000560424 [[67477112, 67477202], [67479357, 67479468], [67479702, 67479847], [67482750, 67483179]] [[67477112, 67477202], [67479357, 67479468], [67479702, 67479847], [67482750, 67482874]]
ENST00000558763 [[67478999, 67479847], [67482750, 67483859]] None
NM_005902 [[67358194, 67358698], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67487533]] [[67358492, 67358698], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67482874]]
NM_001145102 [[67418053, 67418322], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67487533]] [[67457341, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67482874]]
NM_001145103 [[67430358, 67430438], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67487533]] [[67430364, 67430438], [67457232, 67457426], [67457590, 67457722], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67482874]]
NM_001145104 [[67458492, 67458531], [67459116, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67487533]] [[67459169, 67459191], [67462891, 67462942], [67473578, 67473791], [67477064, 67477202], [67479702, 67479847], [67482750, 67482874]]
Promoter
Chrom Start End Description
chr15 67357924 67357952 CAGE_peak_2_at_SMAD3_5end
chr15 67357992 67358009 CAGE_peak_3_at_SMAD3_5end
chr15 67358111 67358122 CAGE_peak_6_at_SMAD3_5end
chr15 67358128 67358133 CAGE_peak_12_at_SMAD3_5end
chr15 67358146 67358157 CAGE_peak_7_at_SMAD3_5end
chr15 67358163 67358192 CAGE_peak_1_at_SMAD3_5end
chr15 67358269 67358272 CAGE_peak_15_at_SMAD3_5end
chr15 67391010 67391046 CAGE_peak_13_at_SMAD3_5end
chr15 67418047 67418093 CAGE_peak_4_at_SMAD3_5end
chr15 67418099 67418118 CAGE_peak_16_at_SMAD3_5end
chr15 67418119 67418162 CAGE_peak_5_at_SMAD3_5end
chr15 67418177 67418204 CAGE_peak_9_at_SMAD3_5end
chr15 67430351 67430366 CAGE_peak_10_at_SMAD3_5end
chr15 67430381 67430396 CAGE_peak_21_at_SMAD3_5end
chr15 67458491 67458505 CAGE_peak_18_at_SMAD3_5end
chr15 67458836 67458859 CAGE_peak_22_at_SMAD3_5end
chr15 67458861 67458879 CAGE_peak_17_at_SMAD3_5end
chr15 67459116 67459123 CAGE_peak_23_at_SMAD3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I066616 66616602 66623532 1.64 [{'connected_gene': 'MAP2K1', 'score': 6.73}, {'connected_gene': 'SMAD3', 'score': 2.85}, {'connected_gene': 'SMAD6', 'score': 2.62}, {'connected_gene': 'LINC01169', 'score': 0.28}, {'connected_gene': 'GC15P069498', 'score': 0.19}]
chr15 GH15I067129 67129743 67152699 2.33 [{'connected_gene': 'SMAD3', 'score': 565.47}, {'connected_gene': 'PIR53240', 'score': 550.77}, {'connected_gene': 'SKOR1', 'score': 13.53}, {'connected_gene': 'SNORD16', 'score': 11.78}, {'connected_gene': 'DIS3L', 'score': 11.61}, {'connected_gene': 'AAGAB', 'score': 11.12}, {'connected_gene': 'IQCH', 'score': 11.12}, {'connected_gene': 'ENSG00000260773', 'score': 10.2}, {'connected_gene': 'PIR54457', 'score': 0.44}, {'connected_gene': 'ENSG00000259202', 'score': 0.44}]
chr15 GH15I067113 67113557 67129452 2.28 [{'connected_gene': 'SMAD3', 'score': 565.43}, {'connected_gene': 'IQCH', 'score': 10.51}, {'connected_gene': 'AAGAB', 'score': 10.51}, {'connected_gene': 'DIS3L', 'score': 5.1}, {'connected_gene': 'PIR54457', 'score': 0.39}, {'connected_gene': 'GC15P069447', 'score': 0.39}]
chr15 GH15I067056 67056319 67056756 0.46 [{'connected_gene': 'SMAD3', 'score': 10.14}, {'connected_gene': 'IQCH', 'score': 9.89}, {'connected_gene': 'AAGAB', 'score': 9.89}, {'connected_gene': 'LOC102723493', 'score': 0.44}, {'connected_gene': 'HMGN2P47', 'score': 0.22}]
chr15 GH15I067060 67060634 67071672 2.53 [{'connected_gene': 'SMAD3', 'score': 561.89}, {'connected_gene': 'LOC102723493', 'score': 550.77}, {'connected_gene': 'PIR44207', 'score': 550.77}, {'connected_gene': 'ENSG00000260773', 'score': 46.14}, {'connected_gene': 'SKOR1', 'score': 27.57}, {'connected_gene': 'MAP2K5', 'score': 11.98}, {'connected_gene': 'IQCH-AS1', 'score': 11.2}, {'connected_gene': 'PIAS1', 'score': 10.55}, {'connected_gene': 'RPL4', 'score': 10.09}, {'connected_gene': 'AAGAB', 'score': 10.06}, {'connected_gene': 'IQCH', 'score': 10.06}, {'connected_gene': 'DIS3L', 'score': 9.98}]
chr15 GH15I067032 67032980 67034654 0.91 [{'connected_gene': 'SMAD3', 'score': 0.31}, {'connected_gene': 'LOC102723493', 'score': 0.29}, {'connected_gene': 'HMGN2P47', 'score': 0.29}]
chr15 GH15I067031 67031243 67031362 0.4 [{'connected_gene': 'SMAD3', 'score': 0.29}, {'connected_gene': 'LOC102723493', 'score': 0.29}, {'connected_gene': 'HMGN2P47', 'score': 0.29}]
chr15 GH15I067157 67157601 67158800 0.51 [{'connected_gene': 'SMAD3', 'score': 12.92}, {'connected_gene': 'PIR31395', 'score': 0.39}, {'connected_gene': 'ENSG00000259202', 'score': 0.39}]
chr15 GH15I067164 67164201 67171011 1.64 [{'connected_gene': 'SMAD3', 'score': 562.04}, {'connected_gene': 'PIR31395', 'score': 0.77}, {'connected_gene': 'ENSG00000259202', 'score': 0.34}]
chr15 GH15I067196 67196160 67201676 1.5 [{'connected_gene': 'IQCH', 'score': 19.19}, {'connected_gene': 'AAGAB', 'score': 17.94}, {'connected_gene': 'MAP2K5', 'score': 10.94}, {'connected_gene': 'SMAD3', 'score': 2.62}, {'connected_gene': 'PIR40233', 'score': 0.44}, {'connected_gene': 'RPS24P16', 'score': 0.29}]
chr15 GH15I067182 67182297 67191639 0.96 [{'connected_gene': 'IQCH', 'score': 21.51}, {'connected_gene': 'AAGAB', 'score': 17.06}, {'connected_gene': 'MAP2K5', 'score': 11.88}, {'connected_gene': 'PIR40233', 'score': 0.44}, {'connected_gene': 'PIR31395', 'score': 0.39}, {'connected_gene': 'SMAD3', 'score': 0.13}]
chr15 GH15I067029 67029506 67031139 1.36 [{'connected_gene': 'IQCH', 'score': 9.81}, {'connected_gene': 'AAGAB', 'score': 9.81}, {'connected_gene': 'SMAD3', 'score': 5.51}, {'connected_gene': 'HMGN2P47', 'score': 0.31}, {'connected_gene': 'LOC102723493', 'score': 0.29}]
chr15 GH15I067027 67027547 67028461 1.22 [{'connected_gene': 'IQCH', 'score': 9.81}, {'connected_gene': 'AAGAB', 'score': 9.81}, {'connected_gene': 'SMAD3', 'score': 4.97}, {'connected_gene': 'HMGN2P47', 'score': 0.31}, {'connected_gene': 'LOC102723493', 'score': 0.28}]
chr15 GH15I067058 67056192 67056249 0.64 [{'connected_gene': 'IQCH', 'score': 9.89}, {'connected_gene': 'AAGAB', 'score': 9.89}, {'connected_gene': 'SMAD3', 'score': 0.44}, {'connected_gene': 'LOC102723493', 'score': 0.44}, {'connected_gene': 'HMGN2P47', 'score': 0.22}]
chr15 GH15I067057 67057926 67059850 1.15 [{'connected_gene': 'IQCH', 'score': 10.06}, {'connected_gene': 'AAGAB', 'score': 10.06}, {'connected_gene': 'SMAD3', 'score': 0.77}, {'connected_gene': 'LOC102723493', 'score': 0.44}, {'connected_gene': 'HMGN2P47', 'score': 0.22}]
chr15 GH15I067153 67153411 67155772 0.43 [{'connected_gene': 'IQCH', 'score': 10.58}, {'connected_gene': 'AAGAB', 'score': 10.58}, {'connected_gene': 'SMAD3', 'score': 8.96}, {'connected_gene': 'ENSG00000259202', 'score': 0.44}, {'connected_gene': 'PIR31395', 'score': 0.37}]
chr15 GH15I067154 67153003 67153291 0.4 [{'connected_gene': 'IQCH', 'score': 10.58}, {'connected_gene': 'AAGAB', 'score': 10.58}, {'connected_gene': 'ENSG00000259202', 'score': 0.44}, {'connected_gene': 'PIR31395', 'score': 0.37}, {'connected_gene': 'SMAD3', 'score': 0.17}]
chr15 GH15I067017 67017245 67019251 0.57 [{'connected_gene': 'IQCH', 'score': 9.73}, {'connected_gene': 'AAGAB', 'score': 9.73}, {'connected_gene': 'HMGN2P47', 'score': 0.37}, {'connected_gene': 'SMAD3', 'score': 0.25}, {'connected_gene': 'LOC102723493', 'score': 0.25}]
chr15 GH15I067013 67013124 67014874 0.94 [{'connected_gene': 'IQCH', 'score': 10.07}, {'connected_gene': 'AAGAB', 'score': 10.07}, {'connected_gene': 'HMGN2P47', 'score': 0.39}, {'connected_gene': 'SMAD3', 'score': 0.25}, {'connected_gene': 'LOC102723493', 'score': 0.23}]
chr15 GH15I067010 67010789 67011684 0.94 [{'connected_gene': 'IQCH', 'score': 10.07}, {'connected_gene': 'AAGAB', 'score': 10.07}, {'connected_gene': 'HMGN2P47', 'score': 0.39}, {'connected_gene': 'SMAD3', 'score': 0.23}, {'connected_gene': 'LOC102723493', 'score': 0.23}]
chr15 GH15I067100 67100157 67111999 1.79 [{'connected_gene': 'DIS3L', 'score': 11.48}, {'connected_gene': 'SMAD3', 'score': 10.2}, {'connected_gene': 'GC15P069447', 'score': 0.77}, {'connected_gene': 'GC15P068695', 'score': 0.29}]
chr15 GH15I066495 66495263 66499153 2.12 [{'connected_gene': 'SNAPC5', 'score': 573.91}, {'connected_gene': 'MIR4512', 'score': 550.77}, {'connected_gene': 'TIPIN', 'score': 49.49}, {'connected_gene': 'ENSG00000260773', 'score': 45.55}, {'connected_gene': 'RPL4', 'score': 19.28}, {'connected_gene': 'SLC24A1', 'score': 14.02}, {'connected_gene': 'INTS14', 'score': 12.53}, {'connected_gene': 'ZWILCH', 'score': 10.96}, {'connected_gene': 'HACD3', 'score': 10.36}, {'connected_gene': 'SNORD16', 'score': 10.34}, {'connected_gene': 'SMAD3', 'score': 10.2}, {'connected_gene': 'DENND4A', 'score': 9.93}, {'connected_gene': 'DIS3L', 'score': 8.91}, {'connected_gene': 'LOC105370868', 'score': 6.66}]
chr15 GH15I067002 67002853 67005093 0.57 [{'connected_gene': 'LOC102723493', 'score': 5.81}, {'connected_gene': 'IQCH', 'score': 4.92}, {'connected_gene': 'HMGN2P47', 'score': 0.77}, {'connected_gene': 'SMAD3', 'score': 0.22}]
chr15 GH15I067095 67095672 67099914 1.34 [{'connected_gene': 'RPL35AP32', 'score': 13.66}, {'connected_gene': 'ENSG00000260773', 'score': 12.91}, {'connected_gene': 'SNORD16', 'score': 11.74}, {'connected_gene': 'AAGAB', 'score': 10.77}, {'connected_gene': 'IQCH', 'score': 10.77}, {'connected_gene': 'IQCH-AS1', 'score': 10.05}, {'connected_gene': 'SMAD3', 'score': 4.87}, {'connected_gene': 'GC15P069447', 'score': 0.39}, {'connected_gene': 'GC15P068695', 'score': 0.34}]
chr15 GH15I067023 67023327 67027217 1.45 [{'connected_gene': 'RPL35AP32', 'score': 10.29}, {'connected_gene': 'IQCH', 'score': 9.7}, {'connected_gene': 'AAGAB', 'score': 9.7}, {'connected_gene': 'SMAD3', 'score': 5.79}, {'connected_gene': 'HMGN2P47', 'score': 0.34}, {'connected_gene': 'LOC102723493', 'score': 0.28}]
chr15 GH15I067171 67171283 67181731 1.72 [{'connected_gene': 'ENSG00000260773', 'score': 41.16}, {'connected_gene': 'SNORD16', 'score': 20.35}, {'connected_gene': 'IQCH', 'score': 17.34}, {'connected_gene': 'RPL35AP32', 'score': 13.66}, {'connected_gene': 'SMAD3', 'score': 12.75}, {'connected_gene': 'ZWILCH', 'score': 12.2}, {'connected_gene': 'SNAPC5', 'score': 11.95}, {'connected_gene': 'TIPIN', 'score': 10.68}, {'connected_gene': 'AAGAB', 'score': 10.34}, {'connected_gene': 'IQCH-AS1', 'score': 10.05}, {'connected_gene': 'MAP2K5', 'score': 9.7}, {'connected_gene': 'SKOR1', 'score': 5.06}, {'connected_gene': 'PIR31395', 'score': 0.77}, {'connected_gene': 'PIR40233', 'score': 0.37}]
chr15 GH15I067072 67072003 67078976 1.7 [{'connected_gene': 'GC15P068695', 'score': 550.77}, {'connected_gene': 'ENSG00000260773', 'score': 27.08}, {'connected_gene': 'ZWILCH', 'score': 23.85}, {'connected_gene': 'SMAD3', 'score': 12.38}, {'connected_gene': 'TIPIN', 'score': 12.31}, {'connected_gene': 'IQCH-AS1', 'score': 11.46}, {'connected_gene': 'AAGAB', 'score': 9.96}, {'connected_gene': 'IQCH', 'score': 9.96}, {'connected_gene': 'SNORD16', 'score': 9.76}, {'connected_gene': 'GC15P069447', 'score': 0.29}]
chr15 GH15I067047 67047017 67052010 1.44 [{'connected_gene': 'ENSG00000260773', 'score': 21.92}, {'connected_gene': 'TIPIN', 'score': 13.53}, {'connected_gene': 'ZWILCH', 'score': 12.57}, {'connected_gene': 'SNORD16', 'score': 9.93}, {'connected_gene': 'SMAD3', 'score': 9.77}, {'connected_gene': 'LOC102723493', 'score': 0.37}, {'connected_gene': 'HMGN2P47', 'score': 0.25}]
chr15 GH15I067156 67156431 67157240 0.52 [{'connected_gene': 'ENSG00000260773', 'score': 14.82}, {'connected_gene': 'SMAD3', 'score': 7.11}, {'connected_gene': 'ENSG00000259202', 'score': 0.44}, {'connected_gene': 'PIR31395', 'score': 0.37}]
chr15 GH15I067161 67161268 67162591 0.92 [{'connected_gene': 'PIR31395', 'score': 0.39}, {'connected_gene': 'ENSG00000259202', 'score': 0.39}, {'connected_gene': 'SMAD3', 'score': 0.15}]
chr15 GH15I067163 67163601 67163800 0.51 [{'connected_gene': 'PIR31395', 'score': 0.44}, {'connected_gene': 'ENSG00000259202', 'score': 0.37}, {'connected_gene': 'SMAD3', 'score': 0.15}]
chr15 GH15I067112 67112285 67113104 0.31 [{'connected_gene': 'GC15P069447', 'score': 0.77}, {'connected_gene': 'PIR54457', 'score': 0.34}, {'connected_gene': 'SMAD3', 'score': 0.25}]
chr15 GH15I067192 67192139 67195646 0.91 [{'connected_gene': 'PIR40233', 'score': 550.77}, {'connected_gene': 'IQCH', 'score': 20.18}, {'connected_gene': 'AAGAB', 'score': 17.49}, {'connected_gene': 'TIPIN', 'score': 13.53}, {'connected_gene': 'SKOR1', 'score': 12.64}, {'connected_gene': 'ZWILCH', 'score': 12.56}, {'connected_gene': 'MAP2K5', 'score': 10.81}, {'connected_gene': 'RPS24P16', 'score': 0.28}, {'connected_gene': 'SMAD3', 'score': 0.12}]
chr15 GH15I067079 67079236 67095589 1.82 [{'connected_gene': 'ENSG00000260773', 'score': 14.82}, {'connected_gene': 'IQCH', 'score': 10.77}, {'connected_gene': 'AAGAB', 'score': 10.77}, {'connected_gene': 'SMAD3', 'score': 7.42}, {'connected_gene': 'GC15P068695', 'score': 0.39}, {'connected_gene': 'GC15P069447', 'score': 0.34}]
chr15 GH15I067037 67037973 67045582 1.39 [{'connected_gene': 'ENSG00000260773', 'score': 44.49}, {'connected_gene': 'IQCH-AS1', 'score': 28.37}, {'connected_gene': 'TIPIN', 'score': 21.7}, {'connected_gene': 'SKOR1', 'score': 19.52}, {'connected_gene': 'SMAD3', 'score': 19.0}, {'connected_gene': 'RPL35AP32', 'score': 13.66}, {'connected_gene': 'ZWILCH', 'score': 12.2}, {'connected_gene': 'SNAPC5', 'score': 11.95}, {'connected_gene': 'SNORD16', 'score': 11.74}, {'connected_gene': 'MAP2K5', 'score': 10.72}, {'connected_gene': 'IQCH', 'score': 5.25}, {'connected_gene': 'LOC102723493', 'score': 0.34}, {'connected_gene': 'HMGN2P47', 'score': 0.26}]

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