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
ENST00000273857 [[47596014, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47682157, 47682268], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47839966]] [[47597737, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47682157, 47682268], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47839966]]
ENST00000508498 [[47597498, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47682157, 47682268], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47792237, 47792277]] [[47597737, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47682157, 47682268], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765595]]
ENST00000502252 [[47597676, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47682157, 47682268], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47808919, 47809064], [47839903, 47840089]] [[47597737, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47682157, 47682268], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47808919, 47809064], [47839903, 47839966]]
ENST00000505909 [[47597737, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47839966]] [[47597737, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47839966]]
ENST00000504584 [[47644859, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47840123]] [[47644914, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47839966]]
ENST00000503821 [[47663504, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47840084]] None
ENST00000502726 [[47681547, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47840123]] None
ENST00000515827 [[47625600, 47625762], [47625915, 47625965], [47628421, 47628510], [47634188, 47634469]] None
ENST00000505754 [[47644857, 47645273], [47647097, 47647211], [47663727, 47663877]] None
ENST00000510974 [[47788740, 47788942], [47808919, 47809064], [47839389, 47839524]] None
NM_006587 [[47596014, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47682157, 47682268], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47840123]] [[47597737, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47682157, 47682268], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47839966]]
NM_001278585 [[47596014, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47808919, 47809064], [47839903, 47840123]] [[47597737, 47597920], [47602230, 47602364], [47605413, 47605685], [47625587, 47625762], [47625915, 47625965], [47628421, 47628538], [47643936, 47644066], [47645162, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47808919, 47809064], [47839903, 47839966]]
NM_001278586 [[47644851, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47840123]] [[47644914, 47645273], [47647097, 47647211], [47655569, 47655677], [47663727, 47663873], [47667048, 47667280], [47676409, 47676517], [47679954, 47680071], [47685747, 47685855], [47694986, 47695100], [47746418, 47746600], [47765395, 47765603], [47788741, 47788942], [47808919, 47809064], [47839903, 47839966]]
Promoter
Chrom Start End Description
chr4 47839519 47839528 CAGE_peak_4_at_CORIN_5end
chr4 47840071 47840094 CAGE_peak_1_at_CORIN_5end
chr4 47840112 47840128 CAGE_peak_2_at_CORIN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I047623 47623470 47624628 0.31 [{'connected_gene': 'ATP10D', 'score': 5.94}, {'connected_gene': 'LOC105374444', 'score': 0.77}, {'connected_gene': 'ENSG00000248254', 'score': 0.21}, {'connected_gene': 'CORIN', 'score': 0.08}]
chr4 GH04I047641 47641352 47644141 0.73 [{'connected_gene': 'GABRA4', 'score': 7.38}, {'connected_gene': 'LOC105374443', 'score': 0.77}, {'connected_gene': 'MIR8053', 'score': 0.44}, {'connected_gene': 'CORIN', 'score': 0.08}]
chr4 GH04I047838 47838984 47839610 0.8 [{'connected_gene': 'CORIN', 'score': 550.77}, {'connected_gene': 'GC04P047839', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 54.42}, {'connected_gene': 'CNGA1', 'score': 23.95}, {'connected_gene': 'LOC101927179', 'score': 0.44}]
chr4 GH04I047836 47836400 47838001 1.33 [{'connected_gene': 'CORIN', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 55.06}, {'connected_gene': 'CNGA1', 'score': 24.6}, {'connected_gene': 'LOC101927179', 'score': 0.44}]
chr4 GH04I047839 47838056 47838115 0.79 [{'connected_gene': 'CORIN', 'score': 550.77}, {'connected_gene': 'GC04P047839', 'score': 550.77}, {'connected_gene': 'LOC101927179', 'score': 0.44}]
chr4 GH04I047824 47824449 47826035 0.78 [{'connected_gene': 'GC04P047826', 'score': 550.77}, {'connected_gene': 'NFXL1', 'score': 36.19}, {'connected_gene': 'NIPAL1', 'score': 10.86}, {'connected_gene': 'CNGA1', 'score': 5.82}, {'connected_gene': 'CORIN', 'score': 0.39}, {'connected_gene': 'GC04M047659', 'score': 0.16}]