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
ENST00000209728 [[38443884, 38444342], [38445659, 38445850], [38447309, 38447591], [38447720, 38447920], [38449707, 38449883], [38450201, 38450308], [38450615, 38450755], [38451607, 38451708], [38452954, 38453019], [38457079, 38457282], [38457719, 38457860], [38458163, 38459171]] [[38445672, 38445850], [38447309, 38447591], [38447720, 38447920], [38449707, 38449883], [38450201, 38450308], [38450615, 38450755], [38451607, 38451708], [38452954, 38453019], [38457079, 38457282], [38457719, 38457860], [38458163, 38458253]]
ENST00000580824 [[38444153, 38444289], [38445659, 38445850], [38447309, 38447591], [38447720, 38447807]] [[38445672, 38445850], [38447309, 38447591], [38447720, 38447807]]
ENST00000577249 [[38444158, 38444384], [38445659, 38445850], [38447309, 38447433]] [[38445672, 38445850], [38447309, 38447433]]
ENST00000473555 [[38445443, 38445850], [38447309, 38447486]] [[38445672, 38445850], [38447309, 38447486]]
ENST00000582402 [[38447718, 38447920], [38451607, 38451758]] None
NM_001254 [[38444145, 38444342], [38445659, 38445850], [38447309, 38447591], [38447720, 38447920], [38449707, 38449883], [38450201, 38450308], [38450615, 38450755], [38451607, 38451708], [38452954, 38453019], [38457079, 38457282], [38457719, 38457860], [38458163, 38459413]] [[38445672, 38445850], [38447309, 38447591], [38447720, 38447920], [38449707, 38449883], [38450201, 38450308], [38450615, 38450755], [38451607, 38451708], [38452954, 38453019], [38457079, 38457282], [38457719, 38457860], [38458163, 38458253]]
Promoter
Chrom Start End Description
chr17 38444115 38444194 CAGE_peak_1_at_CDC6_5end
chr17 38444205 38444214 CAGE_peak_3_at_CDC6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I040455 40455894 40465333 1.53 [{'connected_gene': 'CDC6', 'score': 14.76}, {'connected_gene': 'RPL23AP75', 'score': 11.96}, {'connected_gene': 'TNS4', 'score': 11.78}, {'connected_gene': 'GJD3', 'score': 11.46}, {'connected_gene': 'TOP2A', 'score': 11.26}, {'connected_gene': 'KRT23', 'score': 5.97}, {'connected_gene': 'ENSG00000266208', 'score': 5.15}, {'connected_gene': 'IGFBP4', 'score': 2.06}, {'connected_gene': 'TMEM99', 'score': 2.02}, {'connected_gene': 'GC17P040473', 'score': 0.39}]
chr17 GH17I040436 40436909 40438172 1.01 [{'connected_gene': 'CDC6', 'score': 10.19}, {'connected_gene': 'RARA', 'score': 9.56}, {'connected_gene': 'ENSG00000266208', 'score': 9.4}, {'connected_gene': 'RARA-AS1', 'score': 5.77}, {'connected_gene': 'GC17M040441', 'score': 0.77}, {'connected_gene': 'GC17M040417', 'score': 0.37}]
chr17 GH17I040285 40285940 40289308 2.27 [{'connected_gene': 'CDC6', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 33.13}, {'connected_gene': 'RARA', 'score': 24.27}, {'connected_gene': 'MSL1', 'score': 24.0}, {'connected_gene': 'MED1', 'score': 23.27}, {'connected_gene': 'SMARCE1', 'score': 21.86}, {'connected_gene': 'ENSG00000266208', 'score': 9.42}, {'connected_gene': 'WIPF2', 'score': 4.78}, {'connected_gene': 'PIR47746', 'score': 0.44}, {'connected_gene': 'GC17P040282', 'score': 0.44}, {'connected_gene': 'GC17P040270', 'score': 0.37}]
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 GH17I040266 40265429 40265578 0.56 [{'connected_gene': 'CDC6', 'score': 11.4}, {'connected_gene': 'WIPF2', 'score': 11.36}, {'connected_gene': 'GC17P040270', 'score': 0.77}, {'connected_gene': 'GC17M040243', 'score': 0.39}]
chr17 GH17I040083 40083488 40085014 0.2 [{'connected_gene': 'MED24', 'score': 16.81}, {'connected_gene': 'THRA', 'score': 11.63}, {'connected_gene': 'MSL1', 'score': 11.58}, {'connected_gene': 'ORMDL3', 'score': 10.08}, {'connected_gene': 'LRRC3C', 'score': 10.08}, {'connected_gene': 'PSMD3', 'score': 9.63}, {'connected_gene': 'CDC6', 'score': 9.5}, {'connected_gene': 'GC17P040082', 'score': 0.77}, {'connected_gene': 'NR1D1', 'score': 0.37}]
chr17 GH17I040086 40086528 40086697 0.94 [{'connected_gene': 'MED24', 'score': 12.19}, {'connected_gene': 'THRA', 'score': 11.63}, {'connected_gene': 'MSL1', 'score': 11.58}, {'connected_gene': 'PSMD3', 'score': 10.67}, {'connected_gene': 'GSDMA', 'score': 10.48}, {'connected_gene': 'ORMDL3', 'score': 10.08}, {'connected_gene': 'LRRC3C', 'score': 10.08}, {'connected_gene': 'CDC6', 'score': 9.52}, {'connected_gene': 'GC17P040082', 'score': 0.77}, {'connected_gene': 'NR1D1', 'score': 0.39}]
chr17 GH17I040031 40031267 40033629 0.77 [{'connected_gene': 'MED24', 'score': 58.87}, {'connected_gene': 'GSDMA', 'score': 26.77}, {'connected_gene': 'THRA', 'score': 11.74}, {'connected_gene': 'PSMD3', 'score': 11.45}, {'connected_gene': 'RAPGEFL1', 'score': 11.08}, {'connected_gene': 'ORMDL3', 'score': 10.03}, {'connected_gene': 'LRRC3C', 'score': 10.03}, {'connected_gene': 'CDC6', 'score': 9.5}, {'connected_gene': 'SNORD124', 'score': 0.77}, {'connected_gene': 'GC17P040059', 'score': 0.31}]
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 GH17I040478 40478436 40502480 2.24 [{'connected_gene': 'TNS4', 'score': 557.7}, {'connected_gene': 'SNORD124', 'score': 36.8}, {'connected_gene': 'SMARCE1', 'score': 21.15}, {'connected_gene': 'MED24', 'score': 20.14}, {'connected_gene': 'IGFBP4', 'score': 15.8}, {'connected_gene': 'KRT10', 'score': 12.49}, {'connected_gene': 'RPL23AP75', 'score': 11.48}, {'connected_gene': 'TOP2A', 'score': 10.93}, {'connected_gene': 'RAPGEFL1', 'score': 7.1}, {'connected_gene': 'CDC6', 'score': 4.77}, {'connected_gene': 'ORMDL3', 'score': 4.69}, {'connected_gene': 'WIPF2', 'score': 4.15}, {'connected_gene': 'THRA', 'score': 3.32}, {'connected_gene': 'KRT222', 'score': 2.7}, {'connected_gene': 'KRT24', 'score': 2.15}, {'connected_gene': 'MSL1', 'score': 1.92}, {'connected_gene': 'GJD3', 'score': 1.29}, {'connected_gene': 'GC17P040488', 'score': 0.77}]
chr17 GH17I040515 40515282 40524858 1.67 [{'connected_gene': 'TOP2A', 'score': 12.88}, {'connected_gene': 'CDC6', 'score': 11.96}, {'connected_gene': 'CCR7', 'score': 11.32}, {'connected_gene': 'IGFBP4', 'score': 11.27}, {'connected_gene': 'RPL23AP75', 'score': 11.26}, {'connected_gene': 'GJD3', 'score': 11.23}, {'connected_gene': 'RARA', 'score': 9.78}, {'connected_gene': 'SMARCE1', 'score': 5.95}, {'connected_gene': 'PPIAP54', 'score': 4.74}, {'connected_gene': 'TNS4', 'score': 4.38}, {'connected_gene': 'KRT24', 'score': 3.49}, {'connected_gene': 'TMEM99', 'score': 1.83}, {'connected_gene': 'LOC105371773', 'score': 0.77}, {'connected_gene': 'ENSG00000266088', 'score': 0.77}, {'connected_gene': 'LOC101059954', 'score': 0.77}]
chr17 GH17I040299 40298849 40298998 0.51 [{'connected_gene': 'TOP2A', 'score': 10.38}, {'connected_gene': 'RAPGEFL1', 'score': 9.87}, {'connected_gene': 'GC17P040303', 'score': 0.77}, {'connected_gene': 'CDC6', 'score': 0.39}]
chr17 GH17I040298 40298194 40298819 0.78 [{'connected_gene': 'TOP2A', 'score': 10.38}, {'connected_gene': 'RAPGEFL1', 'score': 9.87}, {'connected_gene': 'GC17P040303', 'score': 0.77}, {'connected_gene': 'CDC6', 'score': 0.39}]
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 GH17I040282 40282707 40285650 1.43 [{'connected_gene': 'RARA', 'score': 11.19}, {'connected_gene': 'GC17P040282', 'score': 0.77}, {'connected_gene': 'PIR47746', 'score': 0.77}, {'connected_gene': 'CDC6', 'score': 0.77}, {'connected_gene': 'GC17P040270', 'score': 0.39}, {'connected_gene': 'WIPF2', 'score': 0.21}]
chr17 GH17I040281 40281051 40282506 0.74 [{'connected_gene': 'RARA', 'score': 10.93}, {'connected_gene': 'ENSG00000266208', 'score': 9.41}, {'connected_gene': 'GC17P040282', 'score': 0.77}, {'connected_gene': 'PIR47746', 'score': 0.77}, {'connected_gene': 'CDC6', 'score': 0.44}, {'connected_gene': 'GC17P040270', 'score': 0.39}, {'connected_gene': 'WIPF2', 'score': 0.21}]
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 GH17I040432 40432787 40434302 1.1 [{'connected_gene': 'RAPGEFL1', 'score': 18.79}, {'connected_gene': 'CDC6', 'score': 10.19}, {'connected_gene': 'ENSG00000266208', 'score': 9.41}, {'connected_gene': 'RARA-AS1', 'score': 7.43}, {'connected_gene': 'GC17M040441', 'score': 0.44}, {'connected_gene': 'GC17M040417', '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 GH17I040471 40470269 40470338 0.58 [{'connected_gene': 'IGFBP4', 'score': 11.93}, {'connected_gene': 'RPL23AP75', 'score': 11.92}, {'connected_gene': 'TNS4', 'score': 11.81}, {'connected_gene': 'TOP2A', 'score': 10.87}, {'connected_gene': 'CDC6', 'score': 10.27}, {'connected_gene': 'GC17P040473', 'score': 0.77}]
chr17 GH17I040509 40509463 40513811 1.52 [{'connected_gene': 'IGFBP4', 'score': 11.29}, {'connected_gene': 'RPL23AP75', 'score': 11.28}, {'connected_gene': 'TOP2A', 'score': 10.53}, {'connected_gene': 'CDC6', 'score': 10.2}, {'connected_gene': 'RARA', 'score': 9.99}, {'connected_gene': 'TNS4', 'score': 6.44}, {'connected_gene': 'PNMT', 'score': 6.43}, {'connected_gene': 'LOC105371773', 'score': 0.44}]
chr17 GH17I040208 40208890 40210479 0.55 [{'connected_gene': 'MSL1', 'score': 18.59}, {'connected_gene': 'CDC6', 'score': 12.13}, {'connected_gene': 'RAPGEFL1', 'score': 11.62}, {'connected_gene': 'RARA', 'score': 10.57}, {'connected_gene': 'MED24', 'score': 10.24}, {'connected_gene': 'THRA', 'score': 10.17}, {'connected_gene': 'WIPF2', 'score': 0.44}, {'connected_gene': 'MIR6867', 'score': 0.37}, {'connected_gene': 'GC17P040124', 'score': 0.17}]
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 GH17I040295 40295287 40297851 0.8 [{'connected_gene': 'MSL1', 'score': 14.67}, {'connected_gene': 'TOP2A', 'score': 10.38}, {'connected_gene': 'RAPGEFL1', 'score': 9.92}, {'connected_gene': 'ENSG00000266208', 'score': 9.43}, {'connected_gene': 'GC17P040303', 'score': 0.44}, {'connected_gene': 'CDC6', 'score': 0.44}]
chr17 GH17I040290 40290093 40291652 1.2 [{'connected_gene': 'WIPF2', 'score': 4.79}, {'connected_gene': 'CDC6', 'score': 0.77}, {'connected_gene': 'GC17P040303', 'score': 0.39}, {'connected_gene': 'GC17P040270', 'score': 0.34}]
chr17 GH17I040300 40299047 40300001 0.31 [{'connected_gene': 'GJD3', 'score': 11.09}, {'connected_gene': 'TOP2A', 'score': 10.38}, {'connected_gene': 'RAPGEFL1', 'score': 10.0}, {'connected_gene': 'ENSG00000266208', 'score': 9.43}, {'connected_gene': 'GC17P040303', 'score': 0.77}, {'connected_gene': 'CDC6', 'score': 0.39}]
chr17 GH17I040193 40193300 40194314 0.82 [{'connected_gene': 'MIR6867', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 50.85}, {'connected_gene': 'MED1', 'score': 42.82}, {'connected_gene': 'SMARCE1', 'score': 37.12}, {'connected_gene': 'MSL1', 'score': 13.26}, {'connected_gene': 'WIPF2', 'score': 12.57}, {'connected_gene': 'CDC6', 'score': 11.36}, {'connected_gene': 'RPL19', 'score': 10.21}, {'connected_gene': 'STARD3', 'score': 9.9}, {'connected_gene': 'RARA', 'score': 9.87}, {'connected_gene': 'SNORD124', 'score': 9.77}, {'connected_gene': 'RAPGEFL1', 'score': 0.37}, {'connected_gene': 'GC17P040124', 'score': 0.2}]
chr17 GH17I040194 40194369 40194518 0.83 [{'connected_gene': 'MIR6867', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 50.85}, {'connected_gene': 'MED1', 'score': 42.82}, {'connected_gene': 'SMARCE1', 'score': 37.12}, {'connected_gene': 'MSL1', 'score': 27.09}, {'connected_gene': 'WIPF2', 'score': 12.59}, {'connected_gene': 'CDC6', 'score': 11.36}, {'connected_gene': 'RPL19', 'score': 10.21}, {'connected_gene': 'STARD3', 'score': 9.9}, {'connected_gene': 'RARA', 'score': 9.88}, {'connected_gene': 'SNORD124', 'score': 9.77}, {'connected_gene': 'ENSG00000266208', 'score': 9.32}, {'connected_gene': 'RAPGEFL1', 'score': 0.37}, {'connected_gene': 'GC17P040124', 'score': 0.2}]
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 GH17I040470 40470419 40477221 1.38 [{'connected_gene': 'GC17P040474', 'score': 550.77}, {'connected_gene': 'ENSG00000279806', 'score': 550.77}, {'connected_gene': 'GC17M040474', 'score': 550.77}, {'connected_gene': 'GC17P040473', 'score': 550.77}, {'connected_gene': 'SMARCE1', 'score': 32.78}, {'connected_gene': 'SNORD124', 'score': 23.32}, {'connected_gene': 'THRA', 'score': 15.85}, {'connected_gene': 'STARD3', 'score': 12.22}, {'connected_gene': 'IGFBP4', 'score': 11.04}, {'connected_gene': 'MED24', 'score': 10.42}, {'connected_gene': 'KRT222', 'score': 10.33}, {'connected_gene': 'CDC6', 'score': 5.2}, {'connected_gene': 'TNS4', 'score': 0.31}]
chr17 GH17I040250 40250741 40252523 0.87 [{'connected_gene': 'GC17M040243', 'score': 550.77}, {'connected_gene': 'RAPGEFL1', 'score': 15.51}, {'connected_gene': 'MSL1', 'score': 15.22}, {'connected_gene': 'WIPF2', 'score': 12.09}, {'connected_gene': 'CDC6', 'score': 11.47}, {'connected_gene': 'TOP2A', 'score': 9.71}, {'connected_gene': 'ENSG00000266208', 'score': 9.34}, {'connected_gene': 'RNY4P8', 'score': 0.44}]
chr17 GH17I040292 40292019 40295054 0.58 [{'connected_gene': 'ENSG00000266208', 'score': 9.43}, {'connected_gene': 'WIPF2', 'score': 4.96}, {'connected_gene': 'GC17P040303', 'score': 0.44}, {'connected_gene': 'CDC6', 'score': 0.44}, {'connected_gene': 'GC17P040270', 'score': 0.34}]
chr17 GH17I040302 40302609 40305314 1.17 [{'connected_gene': 'GC17P040303', 'score': 550.77}, {'connected_gene': 'GJD3', 'score': 11.57}, {'connected_gene': 'TOP2A', 'score': 10.51}, {'connected_gene': 'ENSG00000266208', 'score': 9.44}, {'connected_gene': 'WIPF2', 'score': 4.42}, {'connected_gene': 'RARA', 'score': 0.44}, {'connected_gene': 'CDC6', 'score': 0.37}]

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