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
ENST00000355349 [[23881946, 23882080], [23882967, 23883102], [23883215, 23883311], [23884203, 23884479], [23884589, 23884715], [23884837, 23885041], [23885212, 23885521], [23886076, 23886201], [23886361, 23886527], [23886711, 23886895], [23887418, 23887615], [23888385, 23888504], [23888691, 23888818], [23889053, 23889443], [23890166, 23890257], [23891388, 23891534], [23892755, 23892932], [23893115, 23893358], [23893977, 23894233], [23894490, 23894627], [23894903, 23895027], [23895172, 23895290], [23895985, 23896073], [23896448, 23896516], [23896793, 23897103], [23897708, 23897879], [23898163, 23898313], [23898437, 23898556], [23898983, 23899122], [23899768, 23899872], [23900109, 23900208], [23900626, 23900690], [23900793, 23900886], [23900969, 23901078], [23901687, 23901715], [23901847, 23902004], [23902292, 23902436], [23902740, 23902949], [23903402, 23903458], [23904828, 23904927]] [[23882062, 23882080], [23882967, 23883102], [23883215, 23883311], [23884203, 23884479], [23884589, 23884715], [23884837, 23885041], [23885212, 23885521], [23886076, 23886201], [23886361, 23886527], [23886711, 23886895], [23887418, 23887615], [23888385, 23888504], [23888691, 23888818], [23889053, 23889443], [23890166, 23890257], [23891388, 23891534], [23892755, 23892932], [23893115, 23893358], [23893977, 23894233], [23894490, 23894627], [23894903, 23895027], [23895172, 23895290], [23895985, 23896073], [23896448, 23896516], [23896793, 23897103], [23897708, 23897879], [23898163, 23898313], [23898437, 23898556], [23898983, 23899122], [23899768, 23899872], [23900109, 23900208], [23900626, 23900690], [23900793, 23900886], [23900969, 23901078], [23901687, 23901715], [23901847, 23902004], [23902292, 23902436], [23902740, 23902941]]
NM_000257 [[23881946, 23882080], [23882967, 23883102], [23883215, 23883311], [23884203, 23884479], [23884589, 23884715], [23884837, 23885041], [23885212, 23885521], [23886076, 23886201], [23886361, 23886527], [23886711, 23886895], [23887418, 23887615], [23888385, 23888504], [23888691, 23888818], [23889053, 23889443], [23890166, 23890257], [23891388, 23891534], [23892755, 23892932], [23893115, 23893358], [23893977, 23894233], [23894490, 23894627], [23894903, 23895027], [23895172, 23895290], [23895985, 23896073], [23896448, 23896516], [23896793, 23897103], [23897708, 23897879], [23898163, 23898313], [23898437, 23898556], [23898983, 23899122], [23899768, 23899872], [23900109, 23900208], [23900626, 23900690], [23900793, 23900886], [23900969, 23901078], [23901687, 23901715], [23901847, 23902004], [23902292, 23902436], [23902740, 23902949], [23903402, 23903458], [23904828, 23904895]] [[23882062, 23882080], [23882967, 23883102], [23883215, 23883311], [23884203, 23884479], [23884589, 23884715], [23884837, 23885041], [23885212, 23885521], [23886076, 23886201], [23886361, 23886527], [23886711, 23886895], [23887418, 23887615], [23888385, 23888504], [23888691, 23888818], [23889053, 23889443], [23890166, 23890257], [23891388, 23891534], [23892755, 23892932], [23893115, 23893358], [23893977, 23894233], [23894490, 23894627], [23894903, 23895027], [23895172, 23895290], [23895985, 23896073], [23896448, 23896516], [23896793, 23897103], [23897708, 23897879], [23898163, 23898313], [23898437, 23898556], [23898983, 23899122], [23899768, 23899872], [23900109, 23900208], [23900626, 23900690], [23900793, 23900886], [23900969, 23901078], [23901687, 23901715], [23901847, 23902004], [23902292, 23902436], [23902740, 23902941]]
Promoter
Chrom Start End Description
chr14 23885377 23885388 CAGE_peak_32_at_MYH7_5end
chr14 23885495 23885503 CAGE_peak_24_at_MYH7_5end
chr14 23888441 23888454 CAGE_peak_22_at_MYH7_5end
chr14 23888458 23888482 CAGE_peak_16_at_MYH7_5end
chr14 23888746 23888765 CAGE_peak_20_at_MYH7_5end
chr14 23888795 23888802 CAGE_peak_35_at_MYH7_5end
chr14 23888804 23888813 CAGE_peak_27_at_MYH7_5end
chr14 23893155 23893171 CAGE_peak_7_at_MYH7_5end
chr14 23893172 23893211 CAGE_peak_4_at_MYH7_5end
chr14 23893235 23893258 CAGE_peak_5_at_MYH7_5end
chr14 23893278 23893279 CAGE_peak_41_at_MYH7_5end
chr14 23893283 23893292 CAGE_peak_18_at_MYH7_5end
chr14 23893297 23893312 CAGE_peak_15_at_MYH7_5end
chr14 23893323 23893367 CAGE_peak_3_at_MYH7_5end
chr14 23894527 23894543 CAGE_peak_11_at_MYH7_5end
chr14 23894544 23894603 CAGE_peak_2_at_MYH7_5end
chr14 23894604 23894609 CAGE_peak_33_at_MYH7_5end
chr14 23894616 23894625 CAGE_peak_21_at_MYH7_5end
chr14 23894959 23894983 CAGE_peak_12_at_MYH7_5end
chr14 23899060 23899078 CAGE_peak_17_at_MYH7_5end
chr14 23902767 23902779 CAGE_peak_13_at_MYH7_5end
chr14 23902791 23902812 CAGE_peak_14_at_MYH7_5end
chr14 23902824 23902859 CAGE_peak_6_at_MYH7_5end
chr14 23902864 23902880 CAGE_peak_9_at_MYH7_5end
chr14 23902896 23902937 CAGE_peak_8_at_MYH7_5end
chr14 23903428 23903451 CAGE_peak_19_at_MYH7_5end
chr14 23903462 23903481 CAGE_peak_10_at_MYH7_5end
chr14 23904861 23904877 CAGE_peak_1_at_MYH7_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I023250 23250712 23253329 0.54 [{'connected_gene': 'BCL2L2', 'score': 11.28}, {'connected_gene': 'HOMEZ', 'score': 11.28}, {'connected_gene': 'PPP1R3E', 'score': 11.26}, {'connected_gene': 'CMTM5', 'score': 10.91}, {'connected_gene': 'CEBPE', 'score': 10.69}, {'connected_gene': 'IL25', 'score': 10.66}, {'connected_gene': 'RNF212B', 'score': 10.59}, {'connected_gene': 'SLC7A8', 'score': 10.59}, {'connected_gene': 'SLC22A17', 'score': 10.55}, {'connected_gene': 'MYH6', 'score': 10.45}, {'connected_gene': 'EFS', 'score': 10.39}, {'connected_gene': 'MIR208B', 'score': 10.2}, {'connected_gene': 'RNU6-1138P', 'score': 10.08}, {'connected_gene': 'MYH7', 'score': 9.63}, {'connected_gene': 'RNU6-1046P', 'score': 0.44}, {'connected_gene': 'RPL39P2', 'score': 0.34}]
chr14 GH14I023433 23433985 23439865 2.07 [{'connected_gene': 'MYH7', 'score': 550.77}, {'connected_gene': 'NGDN', 'score': 0.29}]
chr14 GH14I023441 23441067 23441427 0.84 [{'connected_gene': 'MYH7', 'score': 0.44}, {'connected_gene': 'NGDN', 'score': 0.31}]
chr14 GH14I023430 23430614 23431441 0.76 [{'connected_gene': 'MYH7', 'score': 0.77}, {'connected_gene': 'MIR208B', 'score': 0.39}]
chr14 GH14I023410 23410004 23410339 0.53 [{'connected_gene': 'MYH6', 'score': 573.49}, {'connected_gene': 'MYH7', 'score': 15.23}, {'connected_gene': 'MHRT', 'score': 0.44}]
chr14 GH14I023453 23453463 23455309 0.91 [{'connected_gene': 'MYH6', 'score': 11.14}, {'connected_gene': 'MIR208B', 'score': 10.81}, {'connected_gene': 'SLC22A17', 'score': 10.72}, {'connected_gene': 'MIR208A', 'score': 10.51}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.4}, {'connected_gene': 'ZFHX2', 'score': 10.33}, {'connected_gene': 'BCL2L2', 'score': 9.94}, {'connected_gene': 'CMTM5', 'score': 9.82}, {'connected_gene': 'IL25', 'score': 9.81}, {'connected_gene': 'PPP1R3E', 'score': 9.75}, {'connected_gene': 'HOMEZ', 'score': 9.75}, {'connected_gene': 'NGDN', 'score': 6.88}, {'connected_gene': 'PABPN1', 'score': 5.0}, {'connected_gene': 'MYH7', 'score': 0.37}]
chr14 GH14I023442 23442285 23444220 1.29 [{'connected_gene': 'MYH6', 'score': 27.81}, {'connected_gene': 'MIR208B', 'score': 11.35}, {'connected_gene': 'CMTM5', 'score': 10.77}, {'connected_gene': 'IL25', 'score': 10.75}, {'connected_gene': 'SLC22A17', 'score': 10.69}, {'connected_gene': 'MIR208A', 'score': 10.51}, {'connected_gene': 'MYH7', 'score': 6.53}, {'connected_gene': 'NGDN', 'score': 0.31}]
chr14 GH14I023457 23457461 23458650 0.81 [{'connected_gene': 'NGDN', 'score': 0.39}, {'connected_gene': 'MYH7', 'score': 0.34}]
chr14 GH14I023468 23468601 23470579 2.06 [{'connected_gene': 'NGDN', 'score': 570.68}, {'connected_gene': 'ACIN1', 'score': 31.15}, {'connected_gene': 'PRMT5', 'score': 22.2}, {'connected_gene': 'HOMEZ', 'score': 22.07}, {'connected_gene': 'IPO4', 'score': 21.48}, {'connected_gene': 'THTPA', 'score': 19.43}, {'connected_gene': 'TSSK4', 'score': 15.5}, {'connected_gene': 'NOP9', 'score': 12.03}, {'connected_gene': 'PRMT5-AS1', 'score': 11.45}, {'connected_gene': 'RBM23', 'score': 11.23}, {'connected_gene': 'RNF31', 'score': 11.02}, {'connected_gene': 'RNA5SP383', 'score': 10.98}, {'connected_gene': 'OXA1L', 'score': 10.45}, {'connected_gene': 'NFATC4', 'score': 10.17}, {'connected_gene': 'LRP10', 'score': 9.72}, {'connected_gene': 'PABPN1', 'score': 5.03}, {'connected_gene': 'MYH7', 'score': 0.29}]
chr14 GH14I023478 23478212 23479061 0.78 [{'connected_gene': 'ZFHX2-AS1', 'score': 12.18}, {'connected_gene': 'ZFHX2', 'score': 12.06}, {'connected_gene': 'THTPA', 'score': 11.16}, {'connected_gene': 'AP1G2', 'score': 11.07}, {'connected_gene': 'MYH7', 'score': 10.6}, {'connected_gene': 'MIR208B', 'score': 10.46}, {'connected_gene': 'NGDN', 'score': 7.61}]
chr14 GH14I023445 23445509 23448631 0.66 [{'connected_gene': 'MIR208B', 'score': 11.25}, {'connected_gene': 'MYH6', 'score': 11.03}, {'connected_gene': 'SLC22A17', 'score': 10.7}, {'connected_gene': 'MIR208A', 'score': 10.46}, {'connected_gene': 'ZFHX2-AS1', 'score': 10.45}, {'connected_gene': 'ZFHX2', 'score': 10.38}, {'connected_gene': 'CMTM5', 'score': 10.29}, {'connected_gene': 'NGDN', 'score': 6.66}, {'connected_gene': 'MYH7', 'score': 0.39}]