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
ENST00000483873 [[135545421, 135546342], [135553363, 135553426], [135554264, 135554697]] [[135545985, 135546342], [135553363, 135553426], [135554264, 135554294]]
ENST00000372146 [[135545421, 135546342], [135553363, 135555190], [135558949, 135559080], [135562625, 135562714], [135564267, 135570342]] [[135545985, 135546342], [135553363, 135555190], [135558949, 135559080], [135562625, 135562714], [135564267, 135564332]]
NM_012204 [[135545421, 135546342], [135553363, 135555190], [135558949, 135559080], [135562625, 135562714], [135564267, 135570342]] [[135545985, 135546342], [135553363, 135555190], [135558949, 135559080], [135562625, 135562714], [135564267, 135564332]]
NR_133925 [[135545421, 135546342], [135553363, 135555190], [135558607, 135558645], [135558949, 135559080], [135562625, 135562714], [135564267, 135570342]] None
Promoter
Chrom Start End Description
chr9 135545409 135545455 CAGE_peak_2_at_GTF3C4_5end
chr9 135545845 135545916 CAGE_peak_1_at_GTF3C4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I133534 133533139 133533348 1.14 [{'connected_gene': 'ADAMTSL2', 'score': 550.77}, {'connected_gene': 'GTF3C5', 'score': 32.49}, {'connected_gene': 'GTF3C4', 'score': 24.21}, {'connected_gene': 'DDX31', 'score': 22.48}, {'connected_gene': 'WDR5', 'score': 18.45}, {'connected_gene': 'TSC1', 'score': 14.48}, {'connected_gene': 'BRD3OS', 'score': 13.58}, {'connected_gene': 'BRD3', 'score': 12.74}, {'connected_gene': 'RPL7A', 'score': 11.15}, {'connected_gene': 'MED22', 'score': 10.72}, {'connected_gene': 'EEF1A1P5', 'score': 10.33}, {'connected_gene': 'FAM163B', 'score': 0.18}]
chr9 GH09I132240 132240035 132242705 1.65 [{'connected_gene': 'GTF3C4', 'score': 35.7}, {'connected_gene': 'DDX31', 'score': 34.97}, {'connected_gene': 'GTF3C5', 'score': 32.4}, {'connected_gene': 'PRRC2B', 'score': 31.29}, {'connected_gene': 'TSC1', 'score': 27.86}, {'connected_gene': 'SETX', 'score': 12.46}, {'connected_gene': 'POMT1', 'score': 10.37}, {'connected_gene': 'TTF1', 'score': 9.86}, {'connected_gene': 'NTNG2', 'score': 5.7}, {'connected_gene': 'GC09M132284', 'score': 0.16}]
chr9 GH09I132794 132794374 132795560 0.75 [{'connected_gene': 'GTF3C4', 'score': 14.87}, {'connected_gene': 'AK8', 'score': 14.61}, {'connected_gene': 'DDX31', 'score': 11.48}, {'connected_gene': 'SURF6', 'score': 10.55}, {'connected_gene': 'TTF1', 'score': 9.9}, {'connected_gene': 'REXO4', 'score': 9.88}, {'connected_gene': 'PIR47443', 'score': 0.37}, {'connected_gene': 'SPACA9', 'score': 0.18}]
chr9 GH09I132798 132798694 132799514 1.02 [{'connected_gene': 'GTF3C5', 'score': 34.68}, {'connected_gene': 'TSC1', 'score': 29.22}, {'connected_gene': 'TTF1', 'score': 22.52}, {'connected_gene': 'GTF3C4', 'score': 19.92}, {'connected_gene': 'DDX31', 'score': 19.63}, {'connected_gene': 'SETX', 'score': 14.28}, {'connected_gene': 'EEF1A1P5', 'score': 11.77}, {'connected_gene': 'MED22', 'score': 11.51}, {'connected_gene': 'RPL7A', 'score': 11.05}, {'connected_gene': 'SURF6', 'score': 9.69}, {'connected_gene': 'AK8', 'score': 6.6}, {'connected_gene': 'PIR47443', 'score': 0.34}, {'connected_gene': 'SPACA9', 'score': 0.18}]
chr9 GH09I133029 133029451 133031962 2.13 [{'connected_gene': 'GTF3C5', 'score': 608.67}, {'connected_gene': 'LOC105376306', 'score': 550.77}, {'connected_gene': 'SETX', 'score': 81.52}, {'connected_gene': 'TTF1', 'score': 54.6}, {'connected_gene': 'MED22', 'score': 49.32}, {'connected_gene': 'DDX31', 'score': 49.04}, {'connected_gene': 'TSC1', 'score': 44.67}, {'connected_gene': 'GTF3C4', 'score': 37.11}, {'connected_gene': 'BRD3OS', 'score': 22.75}, {'connected_gene': 'SPACA9', 'score': 22.0}, {'connected_gene': 'MED27', 'score': 20.93}, {'connected_gene': 'AK8', 'score': 20.7}, {'connected_gene': 'EEF1A1P5', 'score': 19.69}, {'connected_gene': 'SURF6', 'score': 18.56}, {'connected_gene': 'REXO4', 'score': 17.99}, {'connected_gene': 'RPL7A', 'score': 11.8}, {'connected_gene': 'STKLD1', 'score': 10.38}, {'connected_gene': 'RALGDS', 'score': 8.1}, {'connected_gene': 'CEL', 'score': 7.29}, {'connected_gene': 'MIR6877', 'score': 0.34}]
chr9 GH09I132943 132943291 132945778 2.13 [{'connected_gene': 'TSC1', 'score': 560.66}, {'connected_gene': 'GFI1B', 'score': 550.77}, {'connected_gene': 'MIR548AW', 'score': 550.77}, {'connected_gene': 'SETX', 'score': 45.84}, {'connected_gene': 'MED22', 'score': 40.78}, {'connected_gene': 'GTF3C5', 'score': 34.13}, {'connected_gene': 'TTF1', 'score': 29.64}, {'connected_gene': 'DDX31', 'score': 20.02}, {'connected_gene': 'MED27', 'score': 12.36}, {'connected_gene': 'RPL7A', 'score': 11.79}, {'connected_gene': 'EEF1A1P5', 'score': 10.98}, {'connected_gene': 'GTF3C4', 'score': 9.77}, {'connected_gene': 'AK8', 'score': 5.66}]
chr9 GH09I133333 133333180 133337386 2.1 [{'connected_gene': 'SURF6', 'score': 590.12}, {'connected_gene': 'WDR5', 'score': 33.01}, {'connected_gene': 'LOC100130548', 'score': 26.53}, {'connected_gene': 'TSC1', 'score': 25.06}, {'connected_gene': 'SURF1', 'score': 23.65}, {'connected_gene': 'BRD3', 'score': 23.22}, {'connected_gene': 'GTF3C5', 'score': 23.09}, {'connected_gene': 'GTF3C4', 'score': 21.43}, {'connected_gene': 'DDX31', 'score': 20.36}, {'connected_gene': 'TTF1', 'score': 17.76}, {'connected_gene': 'SETX', 'score': 16.57}, {'connected_gene': 'ENSG00000273249', 'score': 11.41}, {'connected_gene': 'REXO4', 'score': 10.15}, {'connected_gene': 'RXRA', 'score': 9.78}, {'connected_gene': 'ADAMTS13', 'score': 7.17}, {'connected_gene': 'RPL7A', 'score': 4.84}, {'connected_gene': 'PIR61050', 'score': 0.44}]
chr9 GH09I133112 133112071 133145873 2.9 [{'connected_gene': 'RALGDS', 'score': 595.0}, {'connected_gene': 'GTF3C5', 'score': 23.05}, {'connected_gene': 'SETX', 'score': 17.71}, {'connected_gene': 'RPL7A', 'score': 15.02}, {'connected_gene': 'GBGT1', 'score': 13.87}, {'connected_gene': 'BRD3', 'score': 12.96}, {'connected_gene': 'EEF1A1P5', 'score': 11.97}, {'connected_gene': 'DDX31', 'score': 11.79}, {'connected_gene': 'SLC2A6', 'score': 11.42}, {'connected_gene': 'GTF3C4', 'score': 11.37}, {'connected_gene': 'MED22', 'score': 10.07}, {'connected_gene': 'TTF1', 'score': 10.05}, {'connected_gene': 'SURF4', 'score': 9.98}, {'connected_gene': 'CELP', 'score': 5.17}, {'connected_gene': 'TSC1', 'score': 4.99}, {'connected_gene': 'REXO4', 'score': 4.39}, {'connected_gene': 'ADAMTSL2', 'score': 2.29}, {'connected_gene': 'GC09M133093', 'score': 0.29}]
chr9 GH09I133146 133146876 133150086 2.54 [{'connected_gene': 'RALGDS', 'score': 560.97}, {'connected_gene': 'GTF3C5', 'score': 34.77}, {'connected_gene': 'DDX31', 'score': 20.33}, {'connected_gene': 'MED22', 'score': 12.71}, {'connected_gene': 'SETX', 'score': 12.46}, {'connected_gene': 'RPL7A', 'score': 11.83}, {'connected_gene': 'EEF1A1P5', 'score': 10.91}, {'connected_gene': 'TSC1', 'score': 9.95}, {'connected_gene': 'GTF3C4', 'score': 2.0}, {'connected_gene': 'GC09M133093', 'score': 0.23}]
chr9 GH09I132627 132627234 132627383 0.2 [{'connected_gene': 'BARHL1', 'score': 11.3}, {'connected_gene': 'RNU5D-2P', 'score': 10.33}, {'connected_gene': 'RPL39P24', 'score': 9.55}, {'connected_gene': 'RNU7-21P', 'score': 9.55}, {'connected_gene': 'GC09P132620', 'score': 0.44}, {'connected_gene': 'DDX31', 'score': 0.26}, {'connected_gene': 'GTF3C4', 'score': 0.26}]
chr9 GH09I132668 132668787 132671863 2.09 [{'connected_gene': 'DDX31', 'score': 583.7}, {'connected_gene': 'GTF3C4', 'score': 550.77}, {'connected_gene': 'PIR44565', 'score': 550.77}, {'connected_gene': 'TTF1', 'score': 13.23}, {'connected_gene': 'GTF3C5', 'score': 12.81}, {'connected_gene': 'MED27', 'score': 12.36}, {'connected_gene': 'MED22', 'score': 10.38}, {'connected_gene': 'TSC1', 'score': 10.34}]
chr9 GH09I132673 132673201 132673800 0.87 [{'connected_gene': 'DDX31', 'score': 14.29}, {'connected_gene': 'GTF3C4', 'score': 0.77}, {'connected_gene': 'PIR44565', 'score': 0.77}, {'connected_gene': 'PIR58790', 'score': 0.39}]
chr9 GH09I132646 132646497 132648630 0.63 [{'connected_gene': 'DDX31', 'score': 7.85}, {'connected_gene': 'GTF3C4', 'score': 0.34}, {'connected_gene': 'GC09P132620', 'score': 0.31}]
chr9 GH09I132671 132671914 132672163 0.75 [{'connected_gene': 'DDX31', 'score': 550.77}, {'connected_gene': 'PIR44565', 'score': 550.77}, {'connected_gene': 'TSC1', 'score': 13.83}, {'connected_gene': 'TTF1', 'score': 13.23}, {'connected_gene': 'MED27', 'score': 12.36}, {'connected_gene': 'GTF3C4', 'score': 10.91}, {'connected_gene': 'MED22', 'score': 10.38}, {'connected_gene': 'PIR58790', 'score': 0.39}]
chr9 GH09I132650 132650942 132652029 0.52 [{'connected_gene': 'DDX31', 'score': 11.35}, {'connected_gene': 'BARHL1', 'score': 10.77}, {'connected_gene': 'RNU5D-2P', 'score': 10.03}, {'connected_gene': 'RPL39P24', 'score': 9.54}, {'connected_gene': 'RNU7-21P', 'score': 9.54}, {'connected_gene': 'GTF3C4', 'score': 0.37}, {'connected_gene': 'GC09P132620', 'score': 0.29}]
chr9 GH09I132630 132630525 132632238 0.46 [{'connected_gene': 'DDX31', 'score': 39.55}, {'connected_gene': 'BARHL1', 'score': 11.3}, {'connected_gene': 'RNU5D-2P', 'score': 10.33}, {'connected_gene': 'RPL39P24', 'score': 9.55}, {'connected_gene': 'RNU7-21P', 'score': 9.55}, {'connected_gene': 'GC09P132620', 'score': 0.39}, {'connected_gene': 'GTF3C4', 'score': 0.28}]
chr9 GH09I132662 132662756 132663580 0.38 [{'connected_gene': 'RNU5D-2P', 'score': 9.89}, {'connected_gene': 'DDX31', 'score': 7.16}, {'connected_gene': 'GTF3C4', 'score': 0.44}, {'connected_gene': 'GC09P132620', 'score': 0.26}]
chr9 GH09I132622 132622314 132622463 0.43 [{'connected_gene': 'RNU5D-2P', 'score': 10.44}, {'connected_gene': 'RPL39P24', 'score': 10.06}, {'connected_gene': 'RNU7-21P', 'score': 10.06}, {'connected_gene': 'GC09P132620', 'score': 0.77}, {'connected_gene': 'DDX31', 'score': 0.25}, {'connected_gene': 'GTF3C4', 'score': 0.25}]
chr9 GH09I132690 132690814 132690963 0.2 [{'connected_gene': 'PIR43000', 'score': 550.77}, {'connected_gene': 'GC09P132696', 'score': 0.77}, {'connected_gene': 'GTF3C4', 'score': 0.34}]
chr9 GH09I132672 132672374 132672523 0.62 [{'connected_gene': 'PIR44565', 'score': 550.77}, {'connected_gene': 'DDX31', 'score': 13.52}, {'connected_gene': 'GTF3C4', 'score': 0.77}, {'connected_gene': 'PIR58790', 'score': 0.39}]
chr9 GH09I133022 133022188 133022779 1.23 [{'connected_gene': 'GC09P133111', 'score': 550.77}, {'connected_gene': 'GC09P133098', 'score': 550.77}, {'connected_gene': 'GC09P133089', 'score': 550.77}, {'connected_gene': 'GC09P133090', 'score': 550.77}, {'connected_gene': 'GC09P133092', 'score': 550.77}, {'connected_gene': 'GC09P133078', 'score': 550.77}, {'connected_gene': 'GC09P133100', 'score': 550.77}, {'connected_gene': 'GC09P133093', 'score': 550.77}, {'connected_gene': 'PIR47294', 'score': 550.77}, {'connected_gene': 'PIR35502', 'score': 550.77}, {'connected_gene': 'DDX31', 'score': 14.78}, {'connected_gene': 'GTF3C5', 'score': 14.46}, {'connected_gene': 'RNU7-21P', 'score': 11.77}, {'connected_gene': 'RPL39P24', 'score': 11.75}, {'connected_gene': 'GTF3C4', 'score': 11.31}, {'connected_gene': 'TSC1', 'score': 11.05}, {'connected_gene': 'SETX', 'score': 9.69}, {'connected_gene': 'LOC105376306', 'score': 0.44}]
chr9 GH09I132620 132620133 132620416 0.4 [{'connected_gene': 'GC09P132620', 'score': 550.77}, {'connected_gene': 'RNU5D-2P', 'score': 10.44}, {'connected_gene': 'RPL39P24', 'score': 10.06}, {'connected_gene': 'RNU7-21P', 'score': 10.06}, {'connected_gene': 'GTF3C4', 'score': 0.25}, {'connected_gene': 'DDX31', 'score': 0.23}]

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