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
ENST00000334270 [[135251007, 135251555], [135254445, 135254531], [135261942, 135262008], [135263525, 135263615], [135265983, 135266218], [135267462, 135267593], [135271819, 135271898], [135273527, 135273713], [135275421, 135275645], [135276841, 135278215], [135282176, 135282209]] [[135251301, 135251555], [135254445, 135254531], [135261942, 135262008], [135263525, 135263615], [135265983, 135266218], [135267462, 135267593], [135271819, 135271898], [135273527, 135273713], [135275421, 135275645], [135276841, 135278208]]
ENST00000461970 [[135251121, 135251555], [135254445, 135254592]] None
NM_007344 [[135250934, 135251555], [135254445, 135254531], [135261942, 135262008], [135263525, 135263615], [135265983, 135266218], [135267462, 135267593], [135271819, 135271898], [135273527, 135273713], [135275421, 135275645], [135276841, 135278215], [135282176, 135282238]] [[135251301, 135251555], [135254445, 135254531], [135261942, 135262008], [135263525, 135263615], [135265983, 135266218], [135267462, 135267593], [135271819, 135271898], [135273527, 135273713], [135275421, 135275645], [135276841, 135278208]]
NR_134525 [[135250934, 135251555], [135254445, 135254531], [135261942, 135262008], [135263525, 135263615], [135265990, 135266218], [135267462, 135267593], [135271819, 135271898], [135273527, 135273713], [135275421, 135275645], [135276841, 135278215], [135282176, 135282238]] None
NM_001205296 [[135250934, 135251555], [135254445, 135254531], [135261942, 135262008], [135263525, 135263615], [135265983, 135266218], [135267462, 135267593], [135271819, 135271898], [135273527, 135273713], [135275421, 135275645], [135282176, 135282238]] [[135251301, 135251555], [135254445, 135254531], [135261942, 135262008], [135263525, 135263615], [135265983, 135266218], [135267462, 135267593], [135271819, 135271898], [135273527, 135273713], [135275421, 135275467]]
Promoter
Chrom Start End Description
chr9 135282195 135282240 CAGE_peak_1_at_TTF1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
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 GH09I132259 132259117 132259633 1.04 [{'connected_gene': 'NTNG2', 'score': 10.67}, {'connected_gene': 'TTF1', 'score': 10.22}, {'connected_gene': 'RNU5D-2P', 'score': 10.0}, {'connected_gene': 'MED27', 'score': 9.51}, {'connected_gene': 'SETX', 'score': 5.25}, {'connected_gene': 'GC09M132284', 'score': 0.19}]
chr9 GH09I132252 132252337 132252940 0.8 [{'connected_gene': 'TTF1', 'score': 10.11}, {'connected_gene': 'GC09M132284', 'score': 0.18}, {'connected_gene': 'NTNG2', 'score': 0.16}]
chr9 GH09I132299 132299266 132300853 0.43 [{'connected_gene': 'TTF1', 'score': 10.64}, {'connected_gene': 'SETX', 'score': 8.5}, {'connected_gene': 'GC09M132284', 'score': 0.29}, {'connected_gene': 'NTNG2', 'score': 0.12}]
chr9 GH09I132404 132404068 132407570 2.42 [{'connected_gene': 'TTF1', 'score': 559.56}, {'connected_gene': 'GC09P132448', 'score': 550.77}, {'connected_gene': 'SETX', 'score': 16.19}, {'connected_gene': 'MED22', 'score': 10.34}, {'connected_gene': 'PIR62838', 'score': 0.37}]
chr9 GH09I132288 132288249 132289421 0.38 [{'connected_gene': 'TTF1', 'score': 10.46}, {'connected_gene': 'SETX', 'score': 9.35}, {'connected_gene': 'RNU5D-2P', 'score': 9.12}, {'connected_gene': 'NTNG2', 'score': 8.96}, {'connected_gene': 'GC09M132284', 'score': 0.26}]
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 GH09I132268 132268814 132271219 0.82 [{'connected_gene': 'TSC1', 'score': 12.35}, {'connected_gene': 'SETX', 'score': 12.06}, {'connected_gene': 'TTF1', 'score': 10.64}, {'connected_gene': 'NTNG2', 'score': 10.18}, {'connected_gene': 'PRRC2B', 'score': 10.08}, {'connected_gene': 'ENSG00000176868', 'score': 9.54}, {'connected_gene': 'POMT1', 'score': 9.54}, {'connected_gene': 'GC09M132284', 'score': 0.21}]
chr9 GH09I132946 132946038 132947125 0.94 [{'connected_gene': 'TSC1', 'score': 550.77}, {'connected_gene': 'MIR548AW', 'score': 550.77}, {'connected_gene': 'MED22', 'score': 10.63}, {'connected_gene': 'TTF1', 'score': 9.93}, {'connected_gene': 'GFI1B', 'score': 0.77}, {'connected_gene': 'GC09P132954', 'score': 0.44}]
chr9 GH09I132575 132575134 132575283 0.79 [{'connected_gene': 'SURF6', 'score': 11.3}, {'connected_gene': 'MED22', 'score': 10.73}, {'connected_gene': 'TTF1', 'score': 10.23}, {'connected_gene': 'GTF3C5', 'score': 10.16}, {'connected_gene': 'DDX31', 'score': 10.16}, {'connected_gene': 'BARHL1', 'score': 0.44}, {'connected_gene': 'RNU5D-2P', 'score': 0.1}]
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 GH09I132560 132560659 132560990 0.39 [{'connected_gene': 'BARHL1', 'score': 15.34}, {'connected_gene': 'RNU5D-2P', 'score': 10.99}, {'connected_gene': 'TTF1', 'score': 10.45}, {'connected_gene': 'CFAP77', 'score': 0.1}]
chr9 GH09I132283 132283875 132284254 0.2 [{'connected_gene': 'SETX', 'score': 11.27}, {'connected_gene': 'TTF1', 'score': 10.01}, {'connected_gene': 'RNU5D-2P', 'score': 9.89}, {'connected_gene': 'GC09M132284', 'score': 0.25}, {'connected_gene': 'NTNG2', 'score': 0.13}]
chr9 GH09I132381 132381345 132385237 1.35 [{'connected_gene': 'SETX', 'score': 18.0}, {'connected_gene': 'TTF1', 'score': 13.19}, {'connected_gene': 'RNU5D-2P', 'score': 10.64}, {'connected_gene': 'PIR62838', 'score': 0.77}, {'connected_gene': 'GC09P132358', 'score': 0.34}]
chr9 GH09I132349 132349184 132356248 2.46 [{'connected_gene': 'SETX', 'score': 567.43}, {'connected_gene': 'TTF1', 'score': 11.6}, {'connected_gene': 'GC09M132284', 'score': 0.34}]
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 GH09I132793 132793265 132794143 0.43 [{'connected_gene': 'AK8', 'score': 14.15}, {'connected_gene': 'TTF1', 'score': 5.24}, {'connected_gene': 'PIR47443', 'score': 0.37}, {'connected_gene': 'SPACA9', 'score': 0.18}]
chr9 GH09I132787 132787685 132788609 0.67 [{'connected_gene': 'AK8', 'score': 14.23}, {'connected_gene': 'TTF1', 'score': 5.23}, {'connected_gene': 'PIR47443', 'score': 0.39}, {'connected_gene': 'SPACA9', 'score': 0.17}]
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 GH09I132780 132780201 132781443 1.01 [{'connected_gene': 'AK8', 'score': 24.69}, {'connected_gene': 'SPACA9', 'score': 10.81}, {'connected_gene': 'RNU5D-2P', 'score': 10.34}, {'connected_gene': 'TTF1', 'score': 5.24}, {'connected_gene': 'PIR47443', 'score': 0.77}]
chr9 GH09I131499 131499623 131501863 1.02 [{'connected_gene': 'GC09M131499', 'score': 550.77}, {'connected_gene': 'ENSG00000176868', 'score': 550.77}, {'connected_gene': 'EXOSC2', 'score': 17.7}, {'connected_gene': 'FUBP3', 'score': 12.82}, {'connected_gene': 'LOC105376301', 'score': 11.86}, {'connected_gene': 'UCK1', 'score': 11.57}, {'connected_gene': 'TTF1', 'score': 9.96}, {'connected_gene': 'POMT1', 'score': 7.79}, {'connected_gene': 'GC09M131500', 'score': 0.77}, {'connected_gene': 'PRRC2B', 'score': 0.14}]

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