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
ENST00000258930 [[78396947, 78397674], [78398080, 78398276], [78401576, 78401724], [78403506, 78403618], [78416046, 78416081], [78423506, 78423886]] [[78397652, 78397674], [78398080, 78398276], [78401576, 78401724], [78403506, 78403618], [78416046, 78416081], [78423506, 78423557]]
ENST00000539011 [[78396990, 78397674], [78398080, 78398276], [78401576, 78401724], [78403506, 78403618], [78423506, 78423877]] [[78397652, 78397674], [78398080, 78398276], [78401576, 78401724], [78403506, 78403575]]
ENST00000557846 [[78397353, 78397674], [78398080, 78398276], [78401576, 78401724], [78423506, 78423775]] [[78397652, 78397674], [78398080, 78398276], [78401576, 78401724], [78423506, 78423557]]
ENST00000557818 [[78397529, 78397674], [78398080, 78398276], [78401576, 78401724], [78402997, 78403075], [78403506, 78403608]] [[78403030, 78403075], [78403506, 78403608]]
ENST00000557917 [[78397625, 78397674], [78398080, 78398276], [78401576, 78401724], [78416046, 78416081], [78423506, 78423613]] [[78398231, 78398276], [78401576, 78401724], [78416046, 78416081], [78423506, 78423557]]
ENST00000561190 [[78397640, 78397674], [78401576, 78401724], [78403506, 78403618], [78416046, 78416081], [78423506, 78423567]] [[78397640, 78397674], [78401576, 78401724], [78403506, 78403618], [78416046, 78416081], [78423506, 78423557]]
ENST00000560618 [[78397831, 78398276], [78401576, 78401724], [78403506, 78403618], [78423506, 78423605]] [[78397989, 78398276], [78401576, 78401724], [78403506, 78403575]]
ENST00000559645 [[78398195, 78398276], [78401576, 78401851], [78416046, 78416081], [78423506, 78423577]] [[78398195, 78398276], [78401576, 78401851], [78416046, 78416081], [78423506, 78423557]]
ENST00000559054 [[78401629, 78401724], [78403506, 78403618], [78412909, 78413003], [78416046, 78416081], [78423506, 78423613]] [[78401629, 78401724], [78403506, 78403575]]
NM_006383 [[78396947, 78397674], [78398080, 78398276], [78401576, 78401724], [78403506, 78403618], [78416046, 78416081], [78423506, 78423877]] [[78397652, 78397674], [78398080, 78398276], [78401576, 78401724], [78403506, 78403618], [78416046, 78416081], [78423506, 78423557]]
NM_001301224 [[78396947, 78397674], [78398080, 78398276], [78401576, 78401851], [78416046, 78416081], [78423506, 78423877]] [[78397652, 78397674], [78398080, 78398276], [78401576, 78401851], [78416046, 78416081], [78423506, 78423557]]
NR_125435 [[78396947, 78397674], [78398080, 78398276], [78401576, 78401724], [78416046, 78416081], [78423506, 78423877]] None
NM_001271888 [[78396947, 78397674], [78398080, 78398276], [78401576, 78401724], [78403506, 78403618], [78423506, 78423877]] [[78397652, 78397674], [78398080, 78398276], [78401576, 78401724], [78403506, 78403575]]
NM_001271889 [[78396947, 78397674], [78398080, 78398276], [78401576, 78401724], [78423506, 78423877]] [[78397652, 78397674], [78398080, 78398276], [78401576, 78401724], [78423506, 78423557]]
Promoter
Chrom Start End Description
chr15 78423705 78423738 CAGE_peak_2_at_CIB2_5end
chr15 78423763 78423774 CAGE_peak_3_at_CIB2_5end
chr15 78423776 78423794 CAGE_peak_1_at_CIB2_5end
chr15 78423863 78423880 CAGE_peak_5_at_CIB2_5end
chr15 78423890 78423907 CAGE_peak_4_at_CIB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I078042 78042067 78045948 1.2 [{'connected_gene': 'LOC645752', 'score': 19.82}, {'connected_gene': 'TBC1D2B', 'score': 12.98}, {'connected_gene': 'SH2D7', 'score': 12.98}, {'connected_gene': 'ENSG00000199633', 'score': 11.92}, {'connected_gene': 'ADAMTS7P3', 'score': 11.67}, {'connected_gene': 'CIB2', 'score': 10.74}, {'connected_gene': 'PIR50223', 'score': 0.37}, {'connected_gene': 'GC15M078026', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078388 78388846 78390283 0.43 [{'connected_gene': 'IREB2', 'score': 16.28}, {'connected_gene': 'CRABP1', 'score': 11.9}, {'connected_gene': 'CIB2', 'score': 5.38}, {'connected_gene': 'LOC645752', 'score': 4.46}, {'connected_gene': 'ENSG00000259413', 'score': 0.44}, {'connected_gene': 'RWDD1P1', 'score': 0.44}, {'connected_gene': 'LOC105370912', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078146 78146039 78151231 2.24 [{'connected_gene': 'IDH3A', 'score': 567.58}, {'connected_gene': 'SH2D7', 'score': 10.71}, {'connected_gene': 'TBC1D2B', 'score': 10.71}, {'connected_gene': 'ENSG00000199633', 'score': 10.49}, {'connected_gene': 'CIB2', 'score': 10.48}, {'connected_gene': 'ENSG00000260988', 'score': 0.44}, {'connected_gene': 'GC15P078155', 'score': 0.44}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078180 78180109 78181304 0.31 [{'connected_gene': 'IDH3A', 'score': 16.2}, {'connected_gene': 'CIB2', 'score': 10.9}, {'connected_gene': 'GC15P078155', 'score': 0.34}, {'connected_gene': 'PIR56006', 'score': 0.31}, {'connected_gene': 'ACSBG1', 'score': 0.21}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078195 78195759 78195928 0.71 [{'connected_gene': 'ACSBG1', 'score': 13.62}, {'connected_gene': 'CIB2', 'score': 11.91}, {'connected_gene': 'ENSG00000199633', 'score': 10.58}, {'connected_gene': 'SH2D7', 'score': 10.57}, {'connected_gene': 'TBC1D2B', 'score': 10.57}, {'connected_gene': 'PIR56006', 'score': 0.39}, {'connected_gene': 'GC15P078155', 'score': 0.26}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078211 78211785 78215390 1.15 [{'connected_gene': 'ACSBG1', 'score': 7.03}, {'connected_gene': 'CIB2', 'score': 5.45}, {'connected_gene': 'LOC645752', 'score': 4.31}, {'connected_gene': 'PIR56006', 'score': 0.77}, {'connected_gene': 'PIR40151', 'score': 0.29}, {'connected_gene': 'GC15M078021', 'score': 0.04}]
chr15 GH15I078203 78203069 78207887 0.85 [{'connected_gene': 'ACSBG1', 'score': 12.87}, {'connected_gene': 'CIB2', 'score': 5.39}, {'connected_gene': 'MORF4L1', 'score': 4.97}, {'connected_gene': 'LOC645752', 'score': 4.82}, {'connected_gene': 'PIR56006', 'score': 0.77}, {'connected_gene': 'GC15P078155', 'score': 0.25}, {'connected_gene': 'GC15M078021', 'score': 0.04}]
chr15 GH15I078046 78046202 78060480 1.6 [{'connected_gene': 'TBC1D2B', 'score': 23.91}, {'connected_gene': 'LOC645752', 'score': 15.69}, {'connected_gene': 'SH2D7', 'score': 13.09}, {'connected_gene': 'ADAMTS7P3', 'score': 12.35}, {'connected_gene': 'ENSG00000199633', 'score': 12.02}, {'connected_gene': 'CIB2', 'score': 10.75}, {'connected_gene': 'LOC440292', 'score': 4.48}, {'connected_gene': 'IREB2', 'score': 1.16}, {'connected_gene': 'PIR50223', 'score': 0.31}, {'connected_gene': 'GC15M078026', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078394 78394839 78395776 0.71 [{'connected_gene': 'CRABP1', 'score': 11.71}, {'connected_gene': 'IREB2', 'score': 11.1}, {'connected_gene': 'HYKK', 'score': 10.83}, {'connected_gene': 'CIB2', 'score': 4.5}, {'connected_gene': 'ENSG00000259413', 'score': 0.39}, {'connected_gene': 'RWDD1P1', 'score': 0.39}, {'connected_gene': 'LOC105370912', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.06}]
chr15 GH15I078161 78161460 78162622 0.2 [{'connected_gene': 'CIB2', 'score': 17.91}, {'connected_gene': 'ENSG00000199633', 'score': 10.59}, {'connected_gene': 'SH2D7', 'score': 10.57}, {'connected_gene': 'GC15P078155', 'score': 0.44}, {'connected_gene': 'IDH3A', 'score': 0.29}, {'connected_gene': 'PIR56006', 'score': 0.25}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078120 78120494 78121208 0.31 [{'connected_gene': 'CIB2', 'score': 25.93}, {'connected_gene': 'ENSG00000199633', 'score': 11.38}, {'connected_gene': 'SH2D7', 'score': 11.33}, {'connected_gene': 'TBC1D2B', 'score': 10.57}, {'connected_gene': 'IDH3A', 'score': 8.65}, {'connected_gene': 'LOC645752', 'score': 5.5}, {'connected_gene': 'PIR50456', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078124 78124540 78124599 0.5 [{'connected_gene': 'CIB2', 'score': 550.44}, {'connected_gene': 'ENSG00000199633', 'score': 11.36}, {'connected_gene': 'SH2D7', 'score': 11.31}, {'connected_gene': 'TBC1D2B', 'score': 10.55}, {'connected_gene': 'IDH3A', 'score': 0.44}, {'connected_gene': 'PIR50456', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078128 78128814 78132386 2.21 [{'connected_gene': 'CIB2', 'score': 596.45}, {'connected_gene': 'IDH3A', 'score': 550.77}, {'connected_gene': 'ENSG00000259562', 'score': 15.66}, {'connected_gene': 'IREB2', 'score': 13.75}, {'connected_gene': 'TBC1D2B', 'score': 12.09}, {'connected_gene': 'PSMA4', 'score': 9.77}, {'connected_gene': 'PIR50456', 'score': 0.31}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078166 78166431 78175000 1.17 [{'connected_gene': 'CIB2', 'score': 21.73}, {'connected_gene': 'ENSG00000259562', 'score': 18.68}, {'connected_gene': 'IDH3A', 'score': 17.49}, {'connected_gene': 'ENSG00000259322', 'score': 11.81}, {'connected_gene': 'TBC1D2B', 'score': 10.69}, {'connected_gene': 'SH2D7', 'score': 10.69}, {'connected_gene': 'ENSG00000199633', 'score': 10.49}, {'connected_gene': 'IREB2', 'score': 9.78}, {'connected_gene': 'GC15P078155', 'score': 0.39}, {'connected_gene': 'PIR56006', 'score': 0.28}, {'connected_gene': 'ACSBG1', 'score': 0.19}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078113 78113175 78113600 0.99 [{'connected_gene': 'CIB2', 'score': 9.28}, {'connected_gene': 'PIR50456', 'score': 0.44}, {'connected_gene': 'IDH3A', 'score': 0.37}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078132 78132660 78134776 0.46 [{'connected_gene': 'CIB2', 'score': 556.68}, {'connected_gene': 'TBC1D2B', 'score': 16.17}, {'connected_gene': 'SH2D7', 'score': 11.04}, {'connected_gene': 'IDH3A', 'score': 0.77}, {'connected_gene': 'ENSG00000260988', 'score': 0.44}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I077869 77869139 77869838 0.64 [{'connected_gene': 'CIB2', 'score': 5.47}, {'connected_gene': 'TSPAN3', 'score': 4.69}, {'connected_gene': 'CSPG4P13', 'score': 0.44}, {'connected_gene': 'GC15P077854', 'score': 0.37}]
chr15 GH15I077550 77550097 77559232 0.77 [{'connected_gene': 'LOC101929457', 'score': 19.18}, {'connected_gene': 'HMG20A', 'score': 12.77}, {'connected_gene': 'ACSBG1', 'score': 10.01}, {'connected_gene': 'PEAK1', 'score': 9.53}, {'connected_gene': 'CIB2', 'score': 5.34}, {'connected_gene': 'LOC105370906', 'score': 0.39}]
chr15 GH15I078139 78139311 78142618 0.67 [{'connected_gene': 'ENSG00000260988', 'score': 550.77}, {'connected_gene': 'CIB2', 'score': 24.87}, {'connected_gene': 'SH2D7', 'score': 10.88}, {'connected_gene': 'TBC1D2B', 'score': 10.88}, {'connected_gene': 'ENSG00000199633', 'score': 10.51}, {'connected_gene': 'LOC645752', 'score': 6.89}, {'connected_gene': 'IDH3A', 'score': 0.44}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078155 78155801 78156000 0.2 [{'connected_gene': 'GC15P078155', 'score': 550.77}, {'connected_gene': 'CIB2', 'score': 19.84}, {'connected_gene': 'ENSG00000199633', 'score': 10.47}, {'connected_gene': 'SH2D7', 'score': 10.44}, {'connected_gene': 'TBC1D2B', 'score': 10.16}, {'connected_gene': 'IDH3A', 'score': 0.34}, {'connected_gene': 'PIR56006', 'score': 0.23}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078156 78156419 78157901 0.52 [{'connected_gene': 'GC15P078155', 'score': 550.77}, {'connected_gene': 'CIB2', 'score': 23.09}, {'connected_gene': 'IDH3A', 'score': 15.4}, {'connected_gene': 'ENSG00000199633', 'score': 10.65}, {'connected_gene': 'SH2D7', 'score': 10.63}, {'connected_gene': 'TBC1D2B', 'score': 10.55}, {'connected_gene': 'PIR56006', 'score': 0.23}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078109 78108399 78108588 0.86 [{'connected_gene': 'PIR50456', 'score': 0.77}, {'connected_gene': 'CIB2', 'score': 0.34}, {'connected_gene': 'IDH3A', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078108 78108699 78108808 0.74 [{'connected_gene': 'PIR50456', 'score': 0.77}, {'connected_gene': 'CIB2', 'score': 0.34}, {'connected_gene': 'IDH3A', 'score': 0.34}, {'connected_gene': 'GC15M078021', 'score': 0.03}]
chr15 GH15I078100 78100705 78106744 1.02 [{'connected_gene': 'PIR50456', 'score': 550.77}, {'connected_gene': 'CIB2', 'score': 24.44}, {'connected_gene': 'TBC1D2B', 'score': 17.91}, {'connected_gene': 'SH2D7', 'score': 12.76}, {'connected_gene': 'GC15M078092', 'score': 0.39}, {'connected_gene': 'ENSG00000199633', 'score': 0.39}, {'connected_gene': 'GC15M078021', 'score': 0.03}]

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