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
ENST00000505154 [[156680143, 156680295], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727942]] [[156698701, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727561]]
ENST00000502959 [[156680172, 156680295], [156680938, 156681012], [156696119, 156696220], [156698675, 156698794], [156706415, 156706481], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727770]] [[156680292, 156680295], [156680938, 156681012], [156696119, 156696220], [156698675, 156698794], [156706415, 156706481], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727561]]
ENST00000505764 [[156680177, 156680295], [156680938, 156681012], [156693753, 156693905], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727890]] [[156693888, 156693905], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727561]]
ENST00000507146 [[156680182, 156680295], [156680507, 156680693], [156680938, 156681012], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723364, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727985]] [[156698701, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723364, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727561]]
ENST00000264424 [[156680210, 156680295], [156680938, 156681012], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156728743]] [[156680292, 156680295], [156680938, 156681012], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727561]]
ENST00000503520 [[156680241, 156680295], [156680938, 156681012], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723592, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727700]] [[156680292, 156680295], [156680938, 156681012], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723592, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727561]]
ENST00000513437 [[156680610, 156680693], [156680938, 156681012], [156696119, 156696220], [156698675, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727976]] [[156698701, 156698794], [156710865, 156711063], [156715007, 156715238], [156716492, 156716609], [156717528, 156717662], [156721028, 156721226], [156723493, 156723731], [156724775, 156724916], [156725744, 156725899], [156726254, 156726381], [156727537, 156727561]]
Promoter
Chrom Start End Description
chr4 156680143 156680152 CAGE_peak_2_at_GUCY1B3_5end
chr4 156680153 156680242 CAGE_peak_1_at_GUCY1B3_5end
chr4 156680518 156680529 CAGE_peak_3_at_GUCY1B3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I155806 155806649 155807748 0.31 [{'connected_gene': 'TDO2', 'score': 10.27}, {'connected_gene': 'GUCY1B1', 'score': 10.1}, {'connected_gene': 'GC04M155710', 'score': 0.77}]
chr4 GH04I155525 155525989 155527435 0.58 [{'connected_gene': 'GUCY1B1', 'score': 10.8}, {'connected_gene': 'GUCY1A1', 'score': 8.09}, {'connected_gene': 'LOC105377504', 'score': 0.77}]
chr4 GH04I155628 155628542 155630364 0.69 [{'connected_gene': 'GUCY1B1', 'score': 10.66}, {'connected_gene': 'GUCY1A1', 'score': 7.67}, {'connected_gene': 'LOC105377504', 'score': 0.14}]
chr4 GH04I155683 155683479 155685502 0.54 [{'connected_gene': 'GUCY1B1', 'score': 11.43}, {'connected_gene': 'GUCY1A1', 'score': 0.37}, {'connected_gene': 'ENSG00000260244', 'score': 0.25}]
chr4 GH04I155675 155675582 155677051 1.25 [{'connected_gene': 'GUCY1B1', 'score': 11.22}, {'connected_gene': 'GUCY1A1', 'score': 0.44}, {'connected_gene': 'ENSG00000260244', 'score': 0.22}]
chr4 GH04I155679 155679325 155682755 0.72 [{'connected_gene': 'GUCY1B1', 'score': 11.42}, {'connected_gene': 'GUCY1A1', 'score': 0.39}, {'connected_gene': 'ENSG00000260244', 'score': 0.23}]
chr4 GH04I155757 155757990 155760774 1.88 [{'connected_gene': 'GUCY1B1', 'score': 555.63}, {'connected_gene': 'LOC105377506', 'score': 550.77}, {'connected_gene': 'GC04M155710', 'score': 0.23}]
chr4 GH04I155543 155543198 155543670 0.31 [{'connected_gene': 'GUCY1B1', 'score': 10.87}, {'connected_gene': 'LOC105377504', 'score': 0.34}, {'connected_gene': 'GUCY1A1', 'score': 0.13}]
chr4 GH04I155777 155777784 155779310 0.57 [{'connected_gene': 'GUCY1B1', 'score': 0.37}, {'connected_gene': 'GC04M155710', 'score': 0.29}]
chr4 GH04I155591 155591855 155593418 0.38 [{'connected_gene': 'GUCY1A1', 'score': 11.32}, {'connected_gene': 'GUCY1B1', 'score': 10.21}, {'connected_gene': 'LOC105377504', 'score': 0.2}]
chr4 GH04I155693 155693210 155693899 0.2 [{'connected_gene': 'GUCY1A1', 'score': 13.02}, {'connected_gene': 'GUCY1B1', 'score': 10.42}, {'connected_gene': 'ENSG00000260244', 'score': 0.26}]