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
ENST00000282397 [[28874488, 28877505], [28880814, 28880909], [28882979, 28883064], [28885726, 28885869], [28886129, 28886235], [28891634, 28891734], [28893559, 28893671], [28895599, 28895722], [28896398, 28896496], [28896926, 28897083], [28901598, 28901687], [28903751, 28903865], [28908161, 28908266], [28913304, 28913437], [28919581, 28919688], [28931690, 28931822], [28959021, 28959168], [28963932, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29069232]] [[28877303, 28877505], [28880814, 28880909], [28882979, 28883064], [28885726, 28885869], [28886129, 28886235], [28891634, 28891734], [28893559, 28893671], [28895599, 28895722], [28896398, 28896496], [28896926, 28897083], [28901598, 28901687], [28903751, 28903865], [28908161, 28908266], [28913304, 28913437], [28919581, 28919688], [28931690, 28931822], [28959021, 28959168], [28963932, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29068980]]
ENST00000541932 [[28942233, 28942800], [28959021, 28959168], [28963932, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29069265]] [[28942714, 28942800], [28959021, 28959168], [28963932, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29068980]]
ENST00000543394 [[28877270, 28877505], [28880814, 28880909], [28882979, 28883064], [28885726, 28885869], [28886129, 28886235], [28891634, 28891734], [28893559, 28893671], [28895599, 28895722], [28896398, 28896496], [28896592, 28896770]] [[28877303, 28877505], [28880814, 28880909], [28882979, 28883064], [28885726, 28885869], [28886129, 28886235], [28891634, 28891734], [28893559, 28893671], [28895599, 28895722], [28896398, 28896496], [28896592, 28896614]]
ENST00000540678 [[28877280, 28877505], [28880814, 28880909], [28882979, 28883064], [28885726, 28885869], [28886129, 28886235], [28891634, 28891734], [28893559, 28893671], [28895599, 28895722], [28896398, 28896496], [28896926, 28897083], [28901598, 28901687], [28903751, 28903865], [28908161, 28908266], [28913304, 28913437], [28919581, 28919688], [28919916, 28919978], [28920353, 28920426]] [[28877303, 28877505], [28880814, 28880909], [28882979, 28883064], [28885726, 28885869], [28886129, 28886235], [28891634, 28891734], [28893559, 28893671], [28895599, 28895722], [28896398, 28896496], [28896926, 28897083], [28901598, 28901687], [28903751, 28903865], [28908161, 28908266], [28913304, 28913437], [28919581, 28919590]]
ENST00000539099 [[28973180, 28973255], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29069265]] [[28973180, 28973255], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29068980]]
NM_002019 [[28874482, 28877505], [28880814, 28880909], [28882979, 28883064], [28885726, 28885869], [28886129, 28886235], [28891634, 28891734], [28893559, 28893671], [28895599, 28895722], [28896398, 28896496], [28896926, 28897083], [28901598, 28901687], [28903751, 28903865], [28908161, 28908266], [28913304, 28913437], [28919581, 28919688], [28931690, 28931822], [28959021, 28959168], [28963932, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29069265]] [[28877303, 28877505], [28880814, 28880909], [28882979, 28883064], [28885726, 28885869], [28886129, 28886235], [28891634, 28891734], [28893559, 28893671], [28895599, 28895722], [28896398, 28896496], [28896926, 28897083], [28901598, 28901687], [28903751, 28903865], [28908161, 28908266], [28913304, 28913437], [28919581, 28919688], [28931690, 28931822], [28959021, 28959168], [28963932, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29068980]]
NM_001160030 [[28942233, 28942800], [28959021, 28959168], [28963932, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29069265]] [[28942714, 28942800], [28959021, 28959168], [28963932, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29068980]]
NM_001159920 [[28959687, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29069265]] [[28963837, 28964241], [28971096, 28971205], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29068980]]
NM_001160031 [[28973180, 28973255], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29069265]] [[28973180, 28973255], [28979916, 28980031], [29001295, 29001455], [29001888, 29002058], [29004186, 29004304], [29005272, 29005447], [29007955, 29008092], [29008194, 29008357], [29012357, 29012482], [29041039, 29041266], [29041657, 29041754], [29068916, 29068980]]
Promoter
Chrom Start End Description
chr13 28896641 28896653 CAGE_peak_5_at_FLT1_5end
chr13 28903811 28903815 CAGE_peak_3_at_FLT1_5end
chr13 28959108 28959115 CAGE_peak_25_at_FLT1_5end
chr13 28961100 28961122 CAGE_peak_14_at_FLT1_5end
chr13 28961156 28961185 CAGE_peak_8_at_FLT1_5end
chr13 28961248 28961262 CAGE_peak_23_at_FLT1_5end
chr13 28961291 28961301 CAGE_peak_29_at_FLT1_5end
chr13 28961673 28961683 CAGE_peak_16_at_FLT1_5end
chr13 28961709 28961713 CAGE_peak_7_at_FLT1_5end
chr13 28961906 28961916 CAGE_peak_9_at_FLT1_5end
chr13 28961938 28961946 CAGE_peak_4_at_FLT1_5end
chr13 28979951 28979962 CAGE_peak_13_at_FLT1_5end
chr13 28979992 28980007 CAGE_peak_10_at_FLT1_5end
chr13 29069256 29069272 CAGE_peak_1_at_FLT1_5end
chr13 29069408 29069425 CAGE_peak_2_at_FLT1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I028315 28315709 28317318 0.56 [{'connected_gene': 'POMP', 'score': 10.71}, {'connected_gene': 'SLC46A3', 'score': 10.61}, {'connected_gene': 'CYP51A1P2', 'score': 10.61}, {'connected_gene': 'GC13P028308', 'score': 0.44}, {'connected_gene': 'GC13M028385', 'score': 0.19}, {'connected_gene': 'FLT1', 'score': 0.1}]
chr13 GH13I028318 28318216 28319227 0.38 [{'connected_gene': 'POMP', 'score': 10.71}, {'connected_gene': 'SLC46A3', 'score': 10.61}, {'connected_gene': 'CYP51A1P2', 'score': 10.61}, {'connected_gene': 'GC13P028308', 'score': 0.39}, {'connected_gene': 'GC13M028385', 'score': 0.2}, {'connected_gene': 'FLT1', 'score': 0.1}]
chr13 GH13I028624 28623958 28624600 0.73 [{'connected_gene': 'POMP', 'score': 13.74}, {'connected_gene': 'FLT1', 'score': 9.0}, {'connected_gene': 'GC13P028630', 'score': 0.44}, {'connected_gene': 'EIF4A1P7', 'score': 0.31}]
chr13 GH13I028324 28324304 28324800 1.09 [{'connected_gene': 'POMP', 'score': 11.29}, {'connected_gene': 'FLT1', 'score': 10.84}, {'connected_gene': 'GC13P028308', 'score': 0.37}, {'connected_gene': 'GC13M028385', 'score': 0.21}]
chr13 GH13I028475 28475621 28478053 0.99 [{'connected_gene': 'POMP', 'score': 10.84}, {'connected_gene': 'FLT1', 'score': 0.37}, {'connected_gene': 'GC13M028385', 'score': 0.17}]
chr13 GH13I028636 28636512 28638230 1.04 [{'connected_gene': 'POMP', 'score': 12.23}, {'connected_gene': 'FLT1', 'score': 11.3}, {'connected_gene': 'ENSG00000273964', 'score': 0.44}]
chr13 GH13I028478 28478197 28478353 0.31 [{'connected_gene': 'POMP', 'score': 10.84}, {'connected_gene': 'FLT1', 'score': 0.37}, {'connected_gene': 'GC13M028385', 'score': 0.16}]
chr13 GH13I028355 28355509 28358842 1.34 [{'connected_gene': 'POMP', 'score': 3.55}, {'connected_gene': 'GC13M028385', 'score': 0.29}, {'connected_gene': 'GC13P028308', 'score': 0.25}, {'connected_gene': 'FLT1', 'score': 0.12}]
chr13 GH13I028378 28378505 28380696 0.46 [{'connected_gene': 'SLC46A3', 'score': 10.31}, {'connected_gene': 'CYP51A1P2', 'score': 10.31}, {'connected_gene': 'GC13M028385', 'score': 0.44}, {'connected_gene': 'GC13P028308', 'score': 0.19}, {'connected_gene': 'FLT1', 'score': 0.13}]
chr13 GH13I028423 28422401 28423865 1.16 [{'connected_gene': 'PAN3', 'score': 1.73}, {'connected_gene': 'POMP', 'score': 1.67}, {'connected_gene': 'GC13M028385', 'score': 0.28}, {'connected_gene': 'FLT1', 'score': 0.19}]
chr13 GH13I028301 28301317 28302553 0.31 [{'connected_gene': 'PAN3', 'score': 4.29}, {'connected_gene': 'GC13M028298', 'score': 0.77}, {'connected_gene': 'GC13P028308', 'score': 0.44}, {'connected_gene': 'FLT1', 'score': 0.08}]
chr13 GH13I028530 28530786 28533746 1.44 [{'connected_gene': 'PAN3', 'score': 36.64}, {'connected_gene': 'PAN3-AS1', 'score': 29.09}, {'connected_gene': 'FLT1', 'score': 12.65}, {'connected_gene': 'POMP', 'score': 10.44}, {'connected_gene': 'POLR1D', 'score': 10.26}, {'connected_gene': 'EEF1A1P3', 'score': 10.23}, {'connected_gene': 'ENSG00000279393', 'score': 0.28}, {'connected_gene': 'LOC105370135', 'score': 0.26}]
chr13 GH13I028584 28584734 28586015 0.92 [{'connected_gene': 'FLT1', 'score': 11.13}, {'connected_gene': 'POMP', 'score': 1.67}, {'connected_gene': 'EIF4A1P7', 'score': 0.39}, {'connected_gene': 'LOC105370135', 'score': 0.39}]
chr13 GH13I028586 28586764 28586913 0.46 [{'connected_gene': 'FLT1', 'score': 11.35}, {'connected_gene': 'POMP', 'score': 11.0}, {'connected_gene': 'EIF4A1P7', 'score': 0.39}, {'connected_gene': 'LOC105370135', 'score': 0.39}]
chr13 GH13I028523 28523891 28524285 0.98 [{'connected_gene': 'FLT1', 'score': 12.56}, {'connected_gene': 'POMP', 'score': 10.6}, {'connected_gene': 'PAN3', 'score': 1.17}, {'connected_gene': 'ENSG00000279393', 'score': 0.31}, {'connected_gene': 'LOC105370135', 'score': 0.23}]
chr13 GH13I028391 28391573 28395309 1.15 [{'connected_gene': 'FLT1', 'score': 11.45}, {'connected_gene': 'POMP', 'score': 10.93}, {'connected_gene': 'PAN3', 'score': 1.4}, {'connected_gene': 'GC13M028385', 'score': 0.44}]
chr13 GH13I028582 28582684 28582876 1 [{'connected_gene': 'FLT1', 'score': 11.14}, {'connected_gene': 'POMP', 'score': 1.32}, {'connected_gene': 'LOC105370135', 'score': 0.44}, {'connected_gene': 'EIF4A1P7', 'score': 0.37}]
chr13 GH13I028540 28540711 28540873 0.66 [{'connected_gene': 'FLT1', 'score': 11.68}, {'connected_gene': 'POMP', 'score': 11.06}, {'connected_gene': 'LOC105370135', 'score': 0.29}, {'connected_gene': 'ENSG00000279393', 'score': 0.25}]
chr13 GH13I028567 28567001 28570644 0.89 [{'connected_gene': 'FLT1', 'score': 11.85}, {'connected_gene': 'POMP', 'score': 10.49}, {'connected_gene': 'LOC105370135', 'score': 0.44}, {'connected_gene': 'ENSG00000279393', 'score': 0.19}]
chr13 GH13I028527 28527401 28528200 0.77 [{'connected_gene': 'FLT1', 'score': 12.42}, {'connected_gene': 'POMP', 'score': 10.2}, {'connected_gene': 'ENSG00000279393', 'score': 0.29}, {'connected_gene': 'LOC105370135', 'score': 0.25}]
chr13 GH13I028328 28328776 28330400 0.89 [{'connected_gene': 'FLT1', 'score': 11.32}, {'connected_gene': 'POMP', 'score': 10.79}, {'connected_gene': 'GC13P028308', 'score': 0.34}, {'connected_gene': 'GC13M028385', 'score': 0.22}]
chr13 GH13I028327 28327465 28328575 0.81 [{'connected_gene': 'FLT1', 'score': 11.32}, {'connected_gene': 'POMP', 'score': 10.8}, {'connected_gene': 'GC13P028308', 'score': 0.37}, {'connected_gene': 'GC13M028385', 'score': 0.22}]
chr13 GH13I028397 28397084 28397233 0.51 [{'connected_gene': 'FLT1', 'score': 10.93}, {'connected_gene': 'POMP', 'score': 10.2}, {'connected_gene': 'GC13M028385', 'score': 0.44}]
chr13 GH13I028396 28396924 28397073 0.4 [{'connected_gene': 'FLT1', 'score': 11.46}, {'connected_gene': 'POMP', 'score': 10.93}, {'connected_gene': 'GC13M028385', 'score': 0.44}]
chr13 GH13I028618 28618282 28618600 0.2 [{'connected_gene': 'FLT1', 'score': 11.12}, {'connected_gene': 'GC13P028630', 'score': 0.39}, {'connected_gene': 'EIF4A1P7', 'score': 0.37}]
chr13 GH13I028471 28471509 28471719 0.29 [{'connected_gene': 'FLT1', 'score': 11.83}, {'connected_gene': 'PAN3', 'score': 1.25}, {'connected_gene': 'GC13M028385', 'score': 0.18}]
chr13 GH13I028467 28467972 28469000 1.18 [{'connected_gene': 'FLT1', 'score': 12.01}, {'connected_gene': 'PAN3', 'score': 1.14}, {'connected_gene': 'GC13M028385', 'score': 0.18}]
chr13 GH13I028579 28579424 28579553 0.2 [{'connected_gene': 'FLT1', 'score': 11.15}, {'connected_gene': 'LOC105370135', 'score': 0.77}, {'connected_gene': 'EIF4A1P7', 'score': 0.37}]
chr13 GH13I028583 28583801 28584000 0.49 [{'connected_gene': 'FLT1', 'score': 11.14}, {'connected_gene': 'LOC105370135', 'score': 0.44}, {'connected_gene': 'EIF4A1P7', 'score': 0.39}]
chr13 GH13I028585 28583004 28583153 0.63 [{'connected_gene': 'FLT1', 'score': 11.14}, {'connected_gene': 'LOC105370135', 'score': 0.44}, {'connected_gene': 'EIF4A1P7', 'score': 0.37}]
chr13 GH13I028544 28544983 28546394 0.56 [{'connected_gene': 'FLT1', 'score': 12.01}, {'connected_gene': 'LOC105370135', 'score': 0.31}, {'connected_gene': 'ENSG00000279393', 'score': 0.23}]
chr13 GH13I028450 28450760 28452653 1.17 [{'connected_gene': 'FLT1', 'score': 10.96}, {'connected_gene': 'GC13M028385', 'score': 0.21}]
chr13 GH13I028407 28407497 28410282 1.59 [{'connected_gene': 'FLT1', 'score': 21.7}, {'connected_gene': 'GC13M028385', 'score': 0.34}]
chr13 GH13I028466 28466601 28467600 0.72 [{'connected_gene': 'FLT1', 'score': 12.01}, {'connected_gene': 'GC13M028385', 'score': 0.18}]
chr13 GH13I028489 28489474 28490706 0.66 [{'connected_gene': 'FLT1', 'score': 0.44}, {'connected_gene': 'GC13M028385', 'score': 0.15}]
chr13 GH13I028492 28492644 28492829 0.49 [{'connected_gene': 'FLT1', 'score': 0.77}, {'connected_gene': 'GC13M028385', 'score': 0.14}]
chr13 GH13I028470 28470346 28470590 0.39 [{'connected_gene': 'FLT1', 'score': 12.04}, {'connected_gene': 'GC13M028385', 'score': 0.18}]
chr13 GH13I028457 28457120 28457749 0.2 [{'connected_gene': 'FLT1', 'score': 0.28}, {'connected_gene': 'GC13M028385', 'score': 0.19}]
chr13 GH13I028437 28437694 28441548 0.79 [{'connected_gene': 'FLT1', 'score': 12.23}, {'connected_gene': 'GC13M028385', 'score': 0.23}]
chr13 GH13I028401 28401238 28402400 1.12 [{'connected_gene': 'FLT1', 'score': 10.87}, {'connected_gene': 'GC13M028385', 'score': 0.39}]
chr13 GH13I028412 28412688 28414434 0.76 [{'connected_gene': 'FLT1', 'score': 12.09}, {'connected_gene': 'GC13M028385', 'score': 0.31}]
chr13 GH13I028455 28455278 28456553 0.38 [{'connected_gene': 'FLT1', 'score': 0.28}, {'connected_gene': 'GC13M028385', 'score': 0.2}]
chr13 GH13I028573 28573676 28575873 1.48 [{'connected_gene': 'LOC105370135', 'score': 550.77}, {'connected_gene': 'POMP', 'score': 13.52}, {'connected_gene': 'FLT1', 'score': 11.84}, {'connected_gene': 'PAN3', 'score': 4.51}, {'connected_gene': 'ENSG00000279393', 'score': 0.18}]
chr13 GH13I028387 28387702 28388861 0.2 [{'connected_gene': 'GC13M028385', 'score': 550.77}, {'connected_gene': 'FLT1', 'score': 11.44}, {'connected_gene': 'POMP', 'score': 10.93}]
chr13 GH13I028496 28496264 28496413 0.43 [{'connected_gene': 'ENSG00000279393', 'score': 550.77}, {'connected_gene': 'FLT1', 'score': 550.77}, {'connected_gene': 'LOC105370135', 'score': 0.18}]
chr13 GH13I028308 28308484 28308593 0.31 [{'connected_gene': 'GC13P028308', 'score': 550.77}, {'connected_gene': 'GC13M028298', 'score': 0.44}, {'connected_gene': 'FLT1', 'score': 0.09}]
chr13 GH13I028340 28340484 28340753 0.74 [{'connected_gene': 'GC13P028308', 'score': 0.29}, {'connected_gene': 'GC13M028385', 'score': 0.25}, {'connected_gene': 'FLT1', 'score': 0.1}]
chr13 GH13I028339 28339484 28339693 0.51 [{'connected_gene': 'GC13P028308', 'score': 0.29}, {'connected_gene': 'GC13M028385', 'score': 0.25}, {'connected_gene': 'FLT1', 'score': 0.1}]
chr13 GH13I028337 28337247 28339345 1.1 [{'connected_gene': 'GC13P028308', 'score': 0.31}, {'connected_gene': 'GC13M028385', 'score': 0.25}, {'connected_gene': 'FLT1', 'score': 0.1}]
chr13 GH13I028341 28341897 28342528 0.2 [{'connected_gene': 'GC13P028308', 'score': 0.29}, {'connected_gene': 'GC13M028385', 'score': 0.25}, {'connected_gene': 'FLT1', 'score': 0.1}]
chr13 GH13I028413 28412084 28412233 0.93 [{'connected_gene': 'GC13M028385', 'score': 0.34}, {'connected_gene': 'FLT1', 'score': 0.18}]
chr13 GH13I028493 28493200 28496221 1.8 [{'connected_gene': 'ENSG00000279393', 'score': 550.77}, {'connected_gene': 'FLT1', 'score': 550.77}, {'connected_gene': 'GC13M028385', 'score': 0.14}]
chr13 GH13I028422 28422001 28422200 0.38 [{'connected_gene': 'GC13M028385', 'score': 0.29}, {'connected_gene': 'FLT1', 'score': 0.19}]
chr13 GH13I028428 28428118 28431374 1.16 [{'connected_gene': 'GC13M028385', 'score': 0.26}, {'connected_gene': 'FLT1', 'score': 0.2}]
chr13 GH13I028347 28347324 28349011 0.74 [{'connected_gene': 'GC13P028308', 'score': 0.28}, {'connected_gene': 'GC13M028385', 'score': 0.28}, {'connected_gene': 'FLT1', 'score': 0.11}]
chr13 GH13I028299 28299017 28299096 0.22 [{'connected_gene': 'GC13M028298', 'score': 550.77}, {'connected_gene': 'FLT1', 'score': 5.98}, {'connected_gene': 'GC13P028308', 'score': 0.44}]

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