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
ENST00000554976 [[90421282, 90422021], [90422921, 90423144], [90429451, 90430017], [90431194, 90431282], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90447023], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509596]] [[90429458, 90430017], [90431194, 90431211]]
ENST00000393452 [[90422245, 90422314], [90422921, 90423144], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90489375, 90489421], [90499449, 90499558], [90509413, 90509685]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90489375, 90489421], [90499449, 90499529]]
ENST00000554180 [[90422250, 90422314], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446931]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446931]]
ENST00000393454 [[90422281, 90422314], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509688]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509487]]
ENST00000553617 [[90422284, 90422314], [90429568, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90450931]] [[90429755, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90450931]]
ENST00000335725 [[90422294, 90422314], [90422921, 90423144], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90511106]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509487]]
ENST00000555565 [[90422298, 90422314], [90422921, 90423144], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446936]] None
ENST00000357382 [[90422298, 90422314], [90422921, 90423144], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509659]] [[90437541, 90437615], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509487]]
ENST00000545686 [[90422908, 90423144], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90449457, 90449620], [90450859, 90451027], [90451475, 90451554], [90453329, 90453386], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509685]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90449457, 90449470]]
ENST00000555178 [[90422915, 90423144], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509659]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90446883, 90446907]]
ENST00000555880 [[90429448, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90509413, 90509653]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90509413, 90509506]]
ENST00000556867 [[90422336, 90422622], [90429451, 90429913]] [[90429458, 90429913]]
ENST00000553569 [[90422353, 90422622], [90422921, 90423531]] None
ENST00000553527 [[90422380, 90422622], [90422921, 90423144], [90429451, 90429896]] [[90429458, 90429896]]
ENST00000553989 [[90422866, 90423144], [90429451, 90429901]] [[90429458, 90429901]]
ENST00000556498 [[90424636, 90424741], [90429451, 90429943]] [[90429458, 90429943]]
ENST00000557782 [[90442124, 90442159], [90446883, 90446976], [90447806, 90447904], [90449457, 90449549]] [[90442124, 90442159], [90446883, 90446976], [90447806, 90447834]]
ENST00000556063 [[90451502, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499960]] [[90451502, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499728]]
NM_001008744 [[90422245, 90422314], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90511108]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509487]]
NM_018319 [[90422245, 90422314], [90422921, 90423144], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90511108]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90499449, 90499558], [90509413, 90509487]]
NM_001330205 [[90422312, 90422622], [90429451, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90509413, 90511108]] [[90429458, 90430017], [90432490, 90432534], [90433710, 90433766], [90437518, 90437615], [90442124, 90442159], [90446883, 90446976], [90450859, 90451027], [90451475, 90451554], [90455248, 90455434], [90456060, 90456109], [90458260, 90458327], [90459719, 90459827], [90485659, 90485762], [90509413, 90509506]]
Promoter
Chrom Start End Description
chr14 90421225 90421236 CAGE_peak_8_at_TDP1_5end
chr14 90421252 90421293 CAGE_peak_3_at_TDP1_5end
chr14 90421306 90421316 CAGE_peak_4_at_TDP1_5end
chr14 90422239 90422346 CAGE_peak_1_at_TDP1_5end
chr14 90422874 90422917 CAGE_peak_2_at_TDP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I089921 89921167 89923280 0.51 [{'connected_gene': 'KCNK13', 'score': 10.52}, {'connected_gene': 'TDP1', 'score': 6.37}, {'connected_gene': 'EFCAB11', 'score': 0.29}, {'connected_gene': 'ENSG00000259053', 'score': 0.29}, {'connected_gene': 'RAB42P1', 'score': 0.29}]
chr14 GH14I090062 90062617 90062766 0.56 [{'connected_gene': 'KCNK13', 'score': 550.77}, {'connected_gene': 'TDP1', 'score': 9.15}, {'connected_gene': 'GLRXP2', 'score': 0.26}]
chr14 GH14I089998 89998856 89999040 0.23 [{'connected_gene': 'KCNK13', 'score': 11.06}, {'connected_gene': 'GC14M092124', 'score': 0.37}, {'connected_gene': 'TDP1', 'score': 0.26}]
chr14 GH14I090060 90060400 90060686 1.39 [{'connected_gene': 'KCNK13', 'score': 550.77}, {'connected_gene': 'TDP1', 'score': 4.82}, {'connected_gene': 'PIR51411', 'score': 0.37}]
chr14 GH14I090022 90022236 90023523 0.2 [{'connected_gene': 'KCNK13', 'score': 11.5}, {'connected_gene': 'GC14M092124', 'score': 0.77}, {'connected_gene': 'PIR51411', 'score': 0.34}, {'connected_gene': 'TDP1', 'score': 0.2}]
chr14 GH14I089959 89959896 89960699 0.38 [{'connected_gene': 'KCNK13', 'score': 10.39}, {'connected_gene': 'TDP1', 'score': 0.44}, {'connected_gene': 'GC14M092124', 'score': 0.22}]
chr14 GH14I089939 89939557 89939686 0.65 [{'connected_gene': 'TDP1', 'score': 5.64}, {'connected_gene': 'EFCAB11', 'score': 0.37}, {'connected_gene': 'ENSG00000259053', 'score': 0.37}, {'connected_gene': 'RAB42P1', 'score': 0.25}]
chr14 GH14I089926 89926837 89926986 0.57 [{'connected_gene': 'TDP1', 'score': 6.38}, {'connected_gene': 'EFCAB11', 'score': 0.31}, {'connected_gene': 'ENSG00000259053', 'score': 0.31}, {'connected_gene': 'RAB42P1', 'score': 0.28}]
chr14 GH14I089953 89953579 89958301 2.08 [{'connected_gene': 'TDP1', 'score': 561.99}, {'connected_gene': 'EFCAB11', 'score': 550.77}, {'connected_gene': 'ENSG00000259053', 'score': 550.77}, {'connected_gene': 'NRDE2', 'score': 32.54}, {'connected_gene': 'KCNK13', 'score': 10.79}, {'connected_gene': 'GC14M092124', 'score': 0.21}]
chr14 GH14I089856 89856681 89858446 0.69 [{'connected_gene': 'TDP1', 'score': 6.15}, {'connected_gene': 'PIR58103', 'score': 0.37}, {'connected_gene': 'EFCAB11', 'score': 0.15}, {'connected_gene': 'ENSG00000259053', 'score': 0.15}, {'connected_gene': 'CHORDC2P', 'score': 0.13}]
chr14 GH14I089855 89855557 89856620 0.85 [{'connected_gene': 'TDP1', 'score': 6.1}, {'connected_gene': 'PIR58103', 'score': 0.37}, {'connected_gene': 'EFCAB11', 'score': 0.15}, {'connected_gene': 'ENSG00000259053', 'score': 0.15}, {'connected_gene': 'CHORDC2P', 'score': 0.13}]
chr14 GH14I089899 89899888 89901628 0.46 [{'connected_gene': 'TDP1', 'score': 5.82}, {'connected_gene': 'RAB42P1', 'score': 0.44}, {'connected_gene': 'EFCAB11', 'score': 0.23}, {'connected_gene': 'ENSG00000259053', 'score': 0.23}]
chr14 GH14I089842 89842087 89846453 0.63 [{'connected_gene': 'TDP1', 'score': 6.65}, {'connected_gene': 'PIR58103', 'score': 0.29}, {'connected_gene': 'CHORDC2P', 'score': 0.14}, {'connected_gene': 'EFCAB11', 'score': 0.14}, {'connected_gene': 'ENSG00000259053', 'score': 0.14}]
chr14 GH14I088995 88995155 88996646 0.46 [{'connected_gene': 'TDP1', 'score': 4.25}, {'connected_gene': 'GC14P088982', 'score': 0.37}, {'connected_gene': 'ENSG00000283627', 'score': 0.37}]
chr14 GH14I089909 89909629 89913706 1.41 [{'connected_gene': 'NRDE2', 'score': 10.68}, {'connected_gene': 'RPL21P11', 'score': 9.7}, {'connected_gene': 'TDP1', 'score': 7.59}, {'connected_gene': 'EFCAB11', 'score': 6.15}, {'connected_gene': 'FOXN3', 'score': 5.24}, {'connected_gene': 'KCNK13', 'score': 1.47}, {'connected_gene': 'RAB42P1', 'score': 0.37}, {'connected_gene': 'ENSG00000259053', 'score': 0.26}]
chr14 GH14I089916 89916541 89917351 0.49 [{'connected_gene': 'TTC7B', 'score': 10.43}, {'connected_gene': 'TDP1', 'score': 6.29}, {'connected_gene': 'RAB42P1', 'score': 0.31}, {'connected_gene': 'EFCAB11', 'score': 0.28}, {'connected_gene': 'ENSG00000259053', 'score': 0.28}]
chr14 GH14I089503 89503993 89505418 1.24 [{'connected_gene': 'FOXN3', 'score': 5.67}, {'connected_gene': 'TDP1', 'score': 1.58}, {'connected_gene': 'GC14P089486', 'score': 0.37}, {'connected_gene': 'FOXN3-AS2', 'score': 0.19}, {'connected_gene': 'ENSG00000259053', 'score': 0.05}]
chr14 GH14I089494 89493305 89493368 0.4 [{'connected_gene': 'FOXN3', 'score': 1.37}, {'connected_gene': 'TDP1', 'score': 1.2}, {'connected_gene': 'GC14P089486', 'score': 0.44}, {'connected_gene': 'FOXN3-AS2', 'score': 0.18}, {'connected_gene': 'ENSG00000259053', 'score': 0.04}]
chr14 GH14I089509 89509555 89511945 1.37 [{'connected_gene': 'FOXN3', 'score': 10.86}, {'connected_gene': 'TDP1', 'score': 3.75}, {'connected_gene': 'GC14P089486', 'score': 0.34}, {'connected_gene': 'FOXN3-AS2', 'score': 0.2}, {'connected_gene': 'ENSG00000259053', 'score': 0.04}]
chr14 GH14I089700 89700882 89703306 1.33 [{'connected_gene': 'FOXN3', 'score': 3.91}, {'connected_gene': 'TDP1', 'score': 1.45}, {'connected_gene': 'GC14P089715', 'score': 0.39}, {'connected_gene': 'GC14M091700', 'score': 0.23}, {'connected_gene': 'ENSG00000252655', 'score': 0.23}, {'connected_gene': 'ENSG00000259053', 'score': 0.07}]
chr14 GH14I089583 89583174 89583504 0.24 [{'connected_gene': 'FOXN3', 'score': 19.97}, {'connected_gene': 'RN7SKP107', 'score': 11.9}, {'connected_gene': 'ENSG00000252655', 'score': 11.2}, {'connected_gene': 'TDP1', 'score': 2.65}, {'connected_gene': 'GC14P089586', 'score': 0.77}, {'connected_gene': 'FOXN3-AS2', 'score': 0.44}, {'connected_gene': 'ENSG00000259053', 'score': 0.05}]
chr14 GH14I089718 89718828 89723197 1.13 [{'connected_gene': 'FOXN3', 'score': 20.73}, {'connected_gene': 'ENSG00000252655', 'score': 11.31}, {'connected_gene': 'RN7SKP107', 'score': 11.2}, {'connected_gene': 'TDP1', 'score': 4.13}, {'connected_gene': 'RN7SKP255', 'score': 0.44}, {'connected_gene': 'CHORDC2P', 'score': 0.37}, {'connected_gene': 'ENSG00000259053', 'score': 0.07}]
chr14 GH14I089613 89613193 89622000 2.64 [{'connected_gene': 'FOXN3', 'score': 567.33}, {'connected_gene': 'LOC105370617', 'score': 550.77}, {'connected_gene': 'ENSG00000252655', 'score': 11.9}, {'connected_gene': 'TDP1', 'score': 9.91}, {'connected_gene': 'GC14P089623', 'score': 0.77}, {'connected_gene': 'RN7SKP107', 'score': 0.77}, {'connected_gene': 'GC14P089586', 'score': 0.29}, {'connected_gene': 'ENSG00000259053', 'score': 0.05}]
chr14 GH14I089772 89772907 89774476 1.18 [{'connected_gene': 'ENSG00000252655', 'score': 10.61}, {'connected_gene': 'FOXN3', 'score': 7.24}, {'connected_gene': 'TDP1', 'score': 3.82}, {'connected_gene': 'CHORDC2P', 'score': 0.28}, {'connected_gene': 'PIR58103', 'score': 0.15}, {'connected_gene': 'ENSG00000259053', 'score': 0.09}]

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