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
ENST00000418132 [[38296570, 38297032], [38297459, 38297487], [38297822, 38297860], [38318005, 38318164], [38318254, 38318406], [38318977, 38319154], [38319733, 38320419], [38323049, 38323333]] None
ENST00000264645 [[38296575, 38297032], [38297459, 38297487], [38297822, 38297860], [38318005, 38318164], [38318254, 38318406], [38318977, 38319154], [38319733, 38320419], [38323049, 38323114], [38323750, 38323865], [38324102, 38324201], [38324455, 38324670], [38325576, 38325699], [38325850, 38325915], [38326699, 38328436]] [[38296801, 38297032], [38297459, 38297487], [38297822, 38297860], [38318005, 38318164], [38318254, 38318406], [38318977, 38319154], [38319733, 38320419], [38323049, 38323114], [38323750, 38323865], [38324102, 38324201], [38324455, 38324670], [38325576, 38325699], [38325850, 38325874]]
ENST00000581849 [[38296789, 38297032], [38297459, 38297487], [38297822, 38297860], [38318005, 38318276]] None
ENST00000583649 [[38296796, 38297032], [38297459, 38297800]] None
ENST00000584997 [[38297094, 38297487], [38297822, 38297860], [38318005, 38318117]] [[38297438, 38297487], [38297822, 38297860], [38318005, 38318117]]
ENST00000474190 [[38318049, 38318164], [38318254, 38318406], [38318977, 38319154], [38319733, 38319855], [38320138, 38320419], [38323049, 38323110]] [[38318049, 38318164], [38318254, 38318406], [38318977, 38319154], [38319733, 38319855], [38320138, 38320242]]
ENST00000577605 [[38320164, 38320419], [38323049, 38323114], [38323623, 38323865], [38324102, 38324201], [38324455, 38324508]] [[38320164, 38320419], [38323049, 38323114], [38323623, 38323692]]
ENST00000579238 [[38323618, 38323865], [38324102, 38324372]] None
ENST00000583902 [[38324169, 38324670], [38325576, 38325632]] None
ENST00000394114 [[38324690, 38325699], [38325850, 38325915], [38326699, 38328417]] None
NM_007359 [[38296506, 38297032], [38297459, 38297487], [38297822, 38297860], [38318005, 38318164], [38318254, 38318406], [38318977, 38319154], [38319733, 38320419], [38323049, 38323114], [38323750, 38323865], [38324102, 38324201], [38324455, 38324670], [38325576, 38325699], [38325850, 38325915], [38326699, 38328431]] [[38296801, 38297032], [38297459, 38297487], [38297822, 38297860], [38318005, 38318164], [38318254, 38318406], [38318977, 38319154], [38319733, 38320419], [38323049, 38323114], [38323750, 38323865], [38324102, 38324201], [38324455, 38324670], [38325576, 38325699], [38325850, 38325874]]
Promoter
Chrom Start End Description
chr17 38174999 38175001 CAGE_peak_8_at_CASC3_5end
chr17 38296538 38296558 CAGE_peak_2_at_CASC3_5end
chr17 38296576 38296604 CAGE_peak_3_at_CASC3_5end
chr17 38296753 38296803 CAGE_peak_1_at_CASC3_5end
chr17 38324198 38324204 CAGE_peak_7_at_CASC3_5end
chr17 38324495 38324509 CAGE_peak_5_at_CASC3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I040201 40201800 40202201 1.03 [{'connected_gene': 'CDC6', 'score': 12.3}, {'connected_gene': 'RAPGEFL1', 'score': 11.86}, {'connected_gene': 'CASC3', 'score': 11.42}, {'connected_gene': 'MSL1', 'score': 11.03}, {'connected_gene': 'MED24', 'score': 10.27}, {'connected_gene': 'TOP2A', 'score': 9.72}, {'connected_gene': 'MIR6867', 'score': 0.44}, {'connected_gene': 'WIPF2', 'score': 0.37}, {'connected_gene': 'GC17P040124', 'score': 0.18}]
chr17 GH17I040102 40102797 40116135 1.83 [{'connected_gene': 'MED1', 'score': 66.07}, {'connected_gene': 'CDK12', 'score': 65.5}, {'connected_gene': 'SMARCE1', 'score': 54.2}, {'connected_gene': 'MSL1', 'score': 49.71}, {'connected_gene': 'MED24', 'score': 38.1}, {'connected_gene': 'RARA', 'score': 26.57}, {'connected_gene': 'RPL19', 'score': 20.09}, {'connected_gene': 'SNORD124', 'score': 16.41}, {'connected_gene': 'CASC3', 'score': 11.83}, {'connected_gene': 'THRA', 'score': 11.22}, {'connected_gene': 'IGFBP4', 'score': 10.8}, {'connected_gene': 'CDC6', 'score': 9.63}, {'connected_gene': 'ENSG00000266208', 'score': 9.3}, {'connected_gene': 'GSDMA', 'score': 5.27}, {'connected_gene': 'NR1D1', 'score': 2.07}, {'connected_gene': 'WIPF2', 'score': 1.65}, {'connected_gene': 'ENSG00000279199', 'score': 0.44}]
chr17 GH17I040528 40528730 40544482 1.82 [{'connected_gene': 'SMARCE1', 'score': 25.74}, {'connected_gene': 'IGFBP4', 'score': 22.37}, {'connected_gene': 'MED24', 'score': 19.56}, {'connected_gene': 'CCR7', 'score': 16.91}, {'connected_gene': 'SNORD124', 'score': 16.27}, {'connected_gene': 'RARA', 'score': 12.39}, {'connected_gene': 'TOP2A', 'score': 11.65}, {'connected_gene': 'RPL23AP75', 'score': 11.63}, {'connected_gene': 'CDC6', 'score': 10.25}, {'connected_gene': 'GRB7', 'score': 4.55}, {'connected_gene': 'CASC3', 'score': 1.45}, {'connected_gene': 'GC17P040542', 'score': 0.44}, {'connected_gene': 'LOC101059954', 'score': 0.39}, {'connected_gene': 'GC17M040528', 'score': 0.39}]
chr17 GH17I040601 40601570 40609705 1.55 [{'connected_gene': 'SMARCE1', 'score': 37.86}, {'connected_gene': 'CCR7', 'score': 19.79}, {'connected_gene': 'KRT222', 'score': 10.31}, {'connected_gene': 'RAPGEFL1', 'score': 6.02}, {'connected_gene': 'RARA', 'score': 1.93}, {'connected_gene': 'CASC3', 'score': 1.72}, {'connected_gene': 'KRTAP3-2', 'score': 1.16}, {'connected_gene': 'WIPF2', 'score': 1.14}, {'connected_gene': 'ENSG00000279775', 'score': 0.44}, {'connected_gene': 'GC17M040594', 'score': 0.39}]
chr17 GH17I040306 40306131 40328919 2.72 [{'connected_gene': 'RARA', 'score': 590.34}, {'connected_gene': 'MED1', 'score': 174.74}, {'connected_gene': 'SMARCE1', 'score': 131.66}, {'connected_gene': 'SNORD124', 'score': 126.51}, {'connected_gene': 'CDK12', 'score': 120.93}, {'connected_gene': 'MED24', 'score': 72.11}, {'connected_gene': 'MSL1', 'score': 52.0}, {'connected_gene': 'TMEM99', 'score': 23.68}, {'connected_gene': 'CDC6', 'score': 11.42}, {'connected_gene': 'WIPF2', 'score': 11.12}, {'connected_gene': 'PGAP3', 'score': 10.8}, {'connected_gene': 'TOP2A', 'score': 10.68}, {'connected_gene': 'ENSG00000264968', 'score': 10.29}, {'connected_gene': 'IGFBP4', 'score': 10.16}, {'connected_gene': 'STARD3', 'score': 9.9}, {'connected_gene': 'ENSG00000266208', 'score': 9.52}, {'connected_gene': 'IKZF3', 'score': 9.28}, {'connected_gene': 'KRTAP9-7', 'score': 5.67}, {'connected_gene': 'CCR7', 'score': 4.6}, {'connected_gene': 'RAPGEFL1', 'score': 4.15}, {'connected_gene': 'CASC3', 'score': 2.85}, {'connected_gene': 'ZPBP2', 'score': 1.4}, {'connected_gene': 'GC17P040322', 'score': 0.77}, {'connected_gene': 'GC17M040321', 'score': 0.77}, {'connected_gene': 'GC17M040319', 'score': 0.77}, {'connected_gene': 'GC17M040320', 'score': 0.77}, {'connected_gene': 'LOC105371934', 'score': 0.44}]
chr17 GH17I040337 40337601 40352700 2.71 [{'connected_gene': 'RARA', 'score': 577.48}, {'connected_gene': 'MSL1', 'score': 16.54}, {'connected_gene': 'RAPGEFL1', 'score': 11.9}, {'connected_gene': 'ENSG00000266208', 'score': 9.59}, {'connected_gene': 'RARA-AS1', 'score': 9.28}, {'connected_gene': 'WIPF2', 'score': 5.71}, {'connected_gene': 'CASC3', 'score': 1.98}, {'connected_gene': 'ENSG00000278918', 'score': 0.44}]
chr17 GH17I040329 40329649 40333579 1.33 [{'connected_gene': 'RARA', 'score': 30.74}, {'connected_gene': 'MSL1', 'score': 28.89}, {'connected_gene': 'ENSG00000266208', 'score': 9.53}, {'connected_gene': 'WIPF2', 'score': 8.47}, {'connected_gene': 'KRTAP4-6', 'score': 5.31}, {'connected_gene': 'CASC3', 'score': 2.55}, {'connected_gene': 'LOC105371934', 'score': 0.44}, {'connected_gene': 'RARA-AS1', 'score': 0.39}]
chr17 GH17I040333 40333601 40336000 1.53 [{'connected_gene': 'RARA', 'score': 26.15}, {'connected_gene': 'ENSG00000266208', 'score': 9.53}, {'connected_gene': 'MSL1', 'score': 5.98}, {'connected_gene': 'WIPF2', 'score': 5.46}, {'connected_gene': 'CASC3', 'score': 2.54}, {'connected_gene': 'RARA-AS1', 'score': 0.44}, {'connected_gene': 'LOC105371934', 'score': 0.39}]
chr17 GH17I039753 39753044 39760144 1.8 [{'connected_gene': 'GSDMB', 'score': 24.55}, {'connected_gene': 'ORMDL3', 'score': 20.45}, {'connected_gene': 'THRA', 'score': 15.86}, {'connected_gene': 'IKZF3', 'score': 14.78}, {'connected_gene': 'KRT222', 'score': 10.27}, {'connected_gene': 'SNORD124', 'score': 10.06}, {'connected_gene': 'MED24', 'score': 4.67}, {'connected_gene': 'STARD3', 'score': 3.92}, {'connected_gene': 'FBXL20', 'score': 3.46}, {'connected_gene': 'CDK12', 'score': 2.41}, {'connected_gene': 'WIPF2', 'score': 2.04}, {'connected_gene': 'CASC3', 'score': 1.46}, {'connected_gene': 'GC17M039760', 'score': 0.44}, {'connected_gene': 'GRB7', 'score': 0.37}]
chr17 GH17I039817 39817818 39822568 1.14 [{'connected_gene': 'GSDMB', 'score': 38.02}, {'connected_gene': 'IKZF3', 'score': 5.93}, {'connected_gene': 'GSDMA', 'score': 5.9}, {'connected_gene': 'PGAP3', 'score': 4.77}, {'connected_gene': 'FBXL20', 'score': 1.92}, {'connected_gene': 'WIPF2', 'score': 1.49}, {'connected_gene': 'ORMDL3', 'score': 1.38}, {'connected_gene': 'CASC3', 'score': 1.2}, {'connected_gene': 'GC17P039815', 'score': 0.77}, {'connected_gene': 'KRT8P34', 'score': 0.37}]
chr17 GH17I040175 40175682 40178201 2.02 [{'connected_gene': 'RAPGEFL1', 'score': 550.77}, {'connected_gene': 'CASC3', 'score': 12.05}, {'connected_gene': 'MSL1', 'score': 11.06}, {'connected_gene': 'CDC6', 'score': 10.47}, {'connected_gene': 'ENSG00000266208', 'score': 9.31}, {'connected_gene': 'KRTAP4-6', 'score': 4.67}, {'connected_gene': 'PIR47710', 'score': 0.44}, {'connected_gene': 'GC17P040124', 'score': 0.23}]
chr17 GH17I040203 40203229 40203550 0.81 [{'connected_gene': 'MSL1', 'score': 20.21}, {'connected_gene': 'CDC6', 'score': 12.3}, {'connected_gene': 'RAPGEFL1', 'score': 11.83}, {'connected_gene': 'CASC3', 'score': 11.42}, {'connected_gene': 'MED24', 'score': 10.27}, {'connected_gene': 'TOP2A', 'score': 9.72}, {'connected_gene': 'RARA', 'score': 2.52}, {'connected_gene': 'MIR6867', 'score': 0.44}, {'connected_gene': 'WIPF2', 'score': 0.37}, {'connected_gene': 'GC17P040124', 'score': 0.18}]
chr17 GH17I040190 40190509 40190738 0.68 [{'connected_gene': 'MSL1', 'score': 27.34}, {'connected_gene': 'CDC6', 'score': 11.62}, {'connected_gene': 'WIPF2', 'score': 11.53}, {'connected_gene': 'CASC3', 'score': 11.24}, {'connected_gene': 'THRA', 'score': 10.28}, {'connected_gene': 'RARA', 'score': 9.6}, {'connected_gene': 'MIR6867', 'score': 0.77}, {'connected_gene': 'RAPGEFL1', 'score': 0.39}, {'connected_gene': 'GC17P040124', 'score': 0.2}]
chr17 GH17I040158 40158401 40158600 0.43 [{'connected_gene': 'MSL1', 'score': 12.07}, {'connected_gene': 'MED24', 'score': 10.45}, {'connected_gene': 'TOP2A', 'score': 9.26}, {'connected_gene': 'MIR6866', 'score': 0.77}, {'connected_gene': 'CASC3', 'score': 0.37}, {'connected_gene': 'GC17P040124', 'score': 0.29}]
chr17 GH17I040153 40153000 40153951 0.8 [{'connected_gene': 'MSL1', 'score': 11.0}, {'connected_gene': 'MED24', 'score': 9.81}, {'connected_gene': 'ENSG00000266208', 'score': 5.71}, {'connected_gene': 'MIR6866', 'score': 0.44}, {'connected_gene': 'CASC3', 'score': 0.39}, {'connected_gene': 'GC17P040124', 'score': 0.31}]
chr17 GH17I039766 39766278 39783496 2.2 [{'connected_gene': 'IKZF3', 'score': 554.39}, {'connected_gene': 'GC17P039774', 'score': 550.77}, {'connected_gene': 'GSDMB', 'score': 35.97}, {'connected_gene': 'MED1', 'score': 33.8}, {'connected_gene': 'SNORD124', 'score': 33.62}, {'connected_gene': 'ORMDL3', 'score': 20.18}, {'connected_gene': 'GSDMA', 'score': 17.3}, {'connected_gene': 'MED24', 'score': 13.43}, {'connected_gene': 'CDK12', 'score': 12.55}, {'connected_gene': 'ERBB2', 'score': 11.51}, {'connected_gene': 'MIEN1', 'score': 11.12}, {'connected_gene': 'GRB7', 'score': 10.98}, {'connected_gene': 'SNORA21', 'score': 10.37}, {'connected_gene': 'PGAP3', 'score': 10.31}, {'connected_gene': 'NEUROD2', 'score': 9.8}, {'connected_gene': 'TCAP', 'score': 4.49}, {'connected_gene': 'FBXL20', 'score': 2.65}, {'connected_gene': 'CASC3', 'score': 1.72}, {'connected_gene': 'WIPF2', 'score': 1.19}, {'connected_gene': 'GC17P039806', 'score': 0.29}]
chr17 GH17I040138 40138723 40141954 2.13 [{'connected_gene': 'CASC3', 'score': 557.34}, {'connected_gene': 'GC17M040140', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 134.31}, {'connected_gene': 'SNORD124', 'score': 91.71}, {'connected_gene': 'SMARCE1', 'score': 89.67}, {'connected_gene': 'CDK12', 'score': 78.87}, {'connected_gene': 'MED24', 'score': 62.65}, {'connected_gene': 'MSL1', 'score': 23.36}, {'connected_gene': 'STARD3', 'score': 20.38}, {'connected_gene': 'IGFBP4', 'score': 19.14}, {'connected_gene': 'RPL19', 'score': 18.87}, {'connected_gene': 'THRA', 'score': 15.98}, {'connected_gene': 'ENSG00000264968', 'score': 10.31}, {'connected_gene': 'KRT222', 'score': 10.28}, {'connected_gene': 'RARA', 'score': 9.85}, {'connected_gene': 'FBXL20', 'score': 9.71}, {'connected_gene': 'ENSG00000266208', 'score': 7.04}, {'connected_gene': 'GC17P040124', 'score': 0.37}, {'connected_gene': 'MIR6866', 'score': 0.34}]
chr17 GH17I040167 40167861 40169037 1.02 [{'connected_gene': 'CASC3', 'score': 13.17}, {'connected_gene': 'MSL1', 'score': 12.46}, {'connected_gene': 'MED24', 'score': 10.74}, {'connected_gene': 'RARA', 'score': 9.99}, {'connected_gene': 'ENSG00000266208', 'score': 5.34}, {'connected_gene': 'TCAP', 'score': 4.97}, {'connected_gene': 'PIR47710', 'score': 0.77}, {'connected_gene': 'MIR6866', 'score': 0.44}, {'connected_gene': 'GC17P040124', 'score': 0.26}]
chr17 GH17I040612 40612609 40613815 0.99 [{'connected_gene': 'CCR7', 'score': 2.69}, {'connected_gene': 'CASC3', 'score': 1.61}, {'connected_gene': 'GC17M040594', 'score': 0.77}, {'connected_gene': 'ENSG00000279775', 'score': 0.39}]
chr17 GH17I040546 40546965 40567241 2.35 [{'connected_gene': 'CCR7', 'score': 568.72}, {'connected_gene': 'PIR43413', 'score': 550.77}, {'connected_gene': 'SNORD124', 'score': 23.37}, {'connected_gene': 'SMARCE1', 'score': 12.92}, {'connected_gene': 'TOP2A', 'score': 11.79}, {'connected_gene': 'IGFBP4', 'score': 5.8}, {'connected_gene': 'ENSG00000266088', 'score': 4.86}, {'connected_gene': 'KRTAP3-2', 'score': 4.83}, {'connected_gene': 'KRT34', 'score': 4.54}, {'connected_gene': 'GJD3', 'score': 2.94}, {'connected_gene': 'CASC3', 'score': 2.12}, {'connected_gene': 'KRTAP2-1', 'score': 1.35}, {'connected_gene': 'KRTAP1-5', 'score': 1.33}, {'connected_gene': 'WIPF2', 'score': 1.33}, {'connected_gene': 'MED24', 'score': 1.17}, {'connected_gene': 'GC17P040564', 'score': 0.44}, {'connected_gene': 'GC17M040528', 'score': 0.44}]
chr17 GH17I040191 40191200 40192378 1.66 [{'connected_gene': 'MIR6867', 'score': 550.77}, {'connected_gene': 'MSL1', 'score': 27.14}, {'connected_gene': 'WIPF2', 'score': 12.57}, {'connected_gene': 'CDC6', 'score': 11.62}, {'connected_gene': 'CASC3', 'score': 11.24}, {'connected_gene': 'THRA', 'score': 10.43}, {'connected_gene': 'RARA', 'score': 10.23}, {'connected_gene': 'RAPGEFL1', 'score': 0.39}, {'connected_gene': 'GC17P040124', 'score': 0.2}]
chr17 GH17I039812 39812390 39815058 1.35 [{'connected_gene': 'GC17P039815', 'score': 550.77}, {'connected_gene': 'ORMDL3', 'score': 21.07}, {'connected_gene': 'GSDMB', 'score': 16.2}, {'connected_gene': 'ERBB2', 'score': 10.8}, {'connected_gene': 'PGAP3', 'score': 10.8}, {'connected_gene': 'GSDMA', 'score': 5.4}, {'connected_gene': 'IKZF3', 'score': 4.99}, {'connected_gene': 'FBXL20', 'score': 2.79}, {'connected_gene': 'CASC3', 'score': 1.7}, {'connected_gene': 'WIPF2', 'score': 1.41}, {'connected_gene': 'CDK12', 'score': 1.36}, {'connected_gene': 'GC17P039806', 'score': 0.44}]
chr17 GH17I040595 40595775 40600078 1.62 [{'connected_gene': 'ENSG00000279775', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 42.57}, {'connected_gene': 'CCR7', 'score': 18.01}, {'connected_gene': 'SNORD124', 'score': 10.43}, {'connected_gene': 'KRT222', 'score': 9.86}, {'connected_gene': 'KRT28', 'score': 9.49}, {'connected_gene': 'RARA', 'score': 4.1}, {'connected_gene': 'WIPF2', 'score': 2.15}, {'connected_gene': 'KRTAP3-2', 'score': 1.55}, {'connected_gene': 'CASC3', 'score': 1.42}, {'connected_gene': 'KRTAP2-1', 'score': 1.25}, {'connected_gene': 'KRTAP2-2', 'score': 1.21}, {'connected_gene': 'GC17M040594', 'score': 0.37}]
chr17 GH17I040151 40151601 40152000 0.31 [{'connected_gene': 'ENSG00000266208', 'score': 5.14}, {'connected_gene': 'MIR6866', 'score': 0.39}, {'connected_gene': 'CASC3', 'score': 0.39}, {'connected_gene': 'GC17P040124', 'score': 0.31}]

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