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
ENST00000423485 [[38544767, 38545899], [38546216, 38546416], [38547757, 38547892], [38548319, 38548363], [38548469, 38548593], [38548836, 38548989], [38551700, 38551791], [38552534, 38552717], [38554809, 38554893], [38555024, 38555189], [38555291, 38555383], [38556123, 38556319], [38556460, 38556661], [38556780, 38556915], [38557101, 38557333], [38559157, 38559306], [38560403, 38560525], [38560628, 38560743], [38561042, 38561135], [38562635, 38562745], [38562835, 38562941], [38563083, 38563194], [38563800, 38563926], [38564218, 38564376], [38564743, 38564882], [38567360, 38567498], [38567605, 38567707], [38567896, 38568070], [38569010, 38569223], [38569446, 38569544], [38569731, 38569877], [38572256, 38572320], [38572673, 38572764], [38572991, 38573147], [38574022, 38574202]] [[38545770, 38545899], [38546216, 38546416], [38547757, 38547892], [38548319, 38548363], [38548469, 38548593], [38548836, 38548989], [38551700, 38551791], [38552534, 38552717], [38554809, 38554893], [38555024, 38555189], [38555291, 38555383], [38556123, 38556319], [38556460, 38556661], [38556780, 38556915], [38557101, 38557333], [38559157, 38559306], [38560403, 38560525], [38560628, 38560743], [38561042, 38561135], [38562635, 38562745], [38562835, 38562941], [38563083, 38563194], [38563800, 38563926], [38564218, 38564376], [38564743, 38564882], [38567360, 38567498], [38567605, 38567707], [38567896, 38568070], [38569010, 38569223], [38569446, 38569544], [38569731, 38569877], [38572256, 38572320], [38572673, 38572764], [38572991, 38573147], [38574022, 38574043]]
ENST00000577541 [[38544777, 38545110], [38545767, 38545854]] [[38545770, 38545854]]
ENST00000578412 [[38545813, 38545899], [38546216, 38546416], [38547757, 38548353]] None
ENST00000577706 [[38552634, 38552717], [38554809, 38554893], [38555024, 38555189], [38555291, 38555513]] None
ENST00000581055 [[38569731, 38569877], [38572256, 38572320], [38572673, 38572764], [38572991, 38573147], [38573835, 38573957]] [[38569731, 38569877], [38572256, 38572320], [38572673, 38572764], [38572991, 38573132]]
NM_001067 [[38544772, 38545899], [38546216, 38546416], [38547757, 38547892], [38548319, 38548363], [38548469, 38548593], [38548836, 38548989], [38551700, 38551791], [38552534, 38552717], [38554809, 38554893], [38555024, 38555189], [38555291, 38555383], [38556123, 38556319], [38556460, 38556661], [38556780, 38556915], [38557101, 38557333], [38559157, 38559306], [38560403, 38560525], [38560628, 38560743], [38561042, 38561135], [38562635, 38562745], [38562835, 38562941], [38563083, 38563194], [38563800, 38563926], [38564218, 38564376], [38564743, 38564882], [38567360, 38567498], [38567605, 38567707], [38567896, 38568070], [38569010, 38569223], [38569446, 38569544], [38569731, 38569877], [38572256, 38572320], [38572673, 38572764], [38572991, 38573147], [38574022, 38574202]] [[38545770, 38545899], [38546216, 38546416], [38547757, 38547892], [38548319, 38548363], [38548469, 38548593], [38548836, 38548989], [38551700, 38551791], [38552534, 38552717], [38554809, 38554893], [38555024, 38555189], [38555291, 38555383], [38556123, 38556319], [38556460, 38556661], [38556780, 38556915], [38557101, 38557333], [38559157, 38559306], [38560403, 38560525], [38560628, 38560743], [38561042, 38561135], [38562635, 38562745], [38562835, 38562941], [38563083, 38563194], [38563800, 38563926], [38564218, 38564376], [38564743, 38564882], [38567360, 38567498], [38567605, 38567707], [38567896, 38568070], [38569010, 38569223], [38569446, 38569544], [38569731, 38569877], [38572256, 38572320], [38572673, 38572764], [38572991, 38573147], [38574022, 38574043]]
Promoter
Chrom Start End Description
chr17 38545799 38545823 CAGE_peak_4_at_TOP2A_5end
chr17 38574125 38574168 CAGE_peak_1_at_TOP2A_5end
chr17 38574169 38574180 CAGE_peak_2_at_TOP2A_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 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 GH17I040088 40088142 40102552 2.8 [{'connected_gene': 'NR1D1', 'score': 552.12}, {'connected_gene': 'CDK12', 'score': 55.71}, {'connected_gene': 'MED1', 'score': 46.52}, {'connected_gene': 'SMARCE1', 'score': 43.23}, {'connected_gene': 'MSL1', 'score': 35.27}, {'connected_gene': 'MED24', 'score': 18.58}, {'connected_gene': 'GSDMA', 'score': 15.4}, {'connected_gene': 'CCR7', 'score': 11.95}, {'connected_gene': 'THRA', 'score': 11.48}, {'connected_gene': 'RPL19', 'score': 10.62}, {'connected_gene': 'SNORD124', 'score': 10.61}, {'connected_gene': 'STARD3', 'score': 10.52}, {'connected_gene': 'TOP2A', 'score': 9.99}, {'connected_gene': 'ENSG00000266208', 'score': 5.99}, {'connected_gene': 'RARA', 'score': 5.19}, {'connected_gene': 'PGAP3', 'score': 5.02}, {'connected_gene': 'KRT24', 'score': 4.11}, {'connected_gene': 'GRB7', 'score': 2.16}, {'connected_gene': 'WIPF2', 'score': 1.49}, {'connected_gene': 'GC17P040082', 'score': 0.39}]
chr17 GH17I041391 41391597 41392379 0.31 [{'connected_gene': 'KRT38', 'score': 9.26}, {'connected_gene': 'TOP2A', 'score': 4.12}, {'connected_gene': 'KRT34', 'score': 0.44}, {'connected_gene': 'KRT31', 'score': 0.44}]
chr17 GH17I040526 40526809 40526938 0.2 [{'connected_gene': 'TNS4', 'score': 12.26}, {'connected_gene': 'TOP2A', 'score': 11.13}, {'connected_gene': 'GJD3', 'score': 10.89}, {'connected_gene': 'RARA', 'score': 9.75}, {'connected_gene': 'LOC101059954', 'score': 0.77}, {'connected_gene': 'ENSG00000266088', 'score': 0.44}, {'connected_gene': 'GC17P040542', 'score': 0.37}]
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 GH17I040415 40415241 40419191 2.04 [{'connected_gene': 'TOP2A', 'score': 550.77}, {'connected_gene': 'GC17M040417', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 37.83}, {'connected_gene': 'CDK12', 'score': 36.49}, {'connected_gene': 'RARA', 'score': 23.23}, {'connected_gene': 'SMARCE1', 'score': 21.07}, {'connected_gene': 'SNORD124', 'score': 14.25}, {'connected_gene': 'MSL1', 'score': 13.91}, {'connected_gene': 'RPL23AP75', 'score': 11.63}, {'connected_gene': 'IGFBP4', 'score': 11.61}, {'connected_gene': 'ENSG00000266208', 'score': 8.11}, {'connected_gene': 'RARA-AS1', 'score': 4.87}, {'connected_gene': 'GC17P040406', 'score': 0.39}]
chr17 GH17I040419 40419203 40420358 1.11 [{'connected_gene': 'TOP2A', 'score': 550.77}, {'connected_gene': 'GC17M040417', 'score': 550.77}, {'connected_gene': 'RPL23AP75', 'score': 11.99}, {'connected_gene': 'IGFBP4', 'score': 11.99}, {'connected_gene': 'RARA', 'score': 9.81}, {'connected_gene': 'GC17M040441', 'score': 0.34}]
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 GH17I040449 40449771 40455044 1.22 [{'connected_gene': 'TOP2A', 'score': 11.29}, {'connected_gene': 'ENSG00000266208', 'score': 5.7}, {'connected_gene': 'IGFBP4', 'score': 0.44}, {'connected_gene': 'GC17P040473', 'score': 0.34}]
chr17 GH17I040576 40576229 40576378 0.83 [{'connected_gene': 'TOP2A', 'score': 9.81}, {'connected_gene': 'CCR7', 'score': 0.39}, {'connected_gene': 'ENSG00000279775', 'score': 0.34}]
chr17 GH17I040585 40585462 40586946 0.57 [{'connected_gene': 'SMARCE1', 'score': 13.14}, {'connected_gene': 'TOP2A', 'score': 9.73}, {'connected_gene': 'ENSG00000279775', 'score': 0.39}, {'connected_gene': 'CCR7', 'score': 0.34}]
chr17 GH17I040581 40581008 40583270 1.24 [{'connected_gene': 'SMARCE1', 'score': 13.39}, {'connected_gene': 'TOP2A', 'score': 10.04}, {'connected_gene': 'ENSG00000279775', 'score': 0.37}, {'connected_gene': 'CCR7', 'score': 0.37}]
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 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 GH17I040446 40446601 40449481 1.65 [{'connected_gene': 'CDK12', 'score': 17.64}, {'connected_gene': 'MED1', 'score': 14.99}, {'connected_gene': 'SMARCE1', 'score': 12.96}, {'connected_gene': 'TOP2A', 'score': 11.5}, {'connected_gene': 'CCR7', 'score': 10.59}, {'connected_gene': 'RARA', 'score': 10.27}, {'connected_gene': 'RARA-AS1', 'score': 5.56}, {'connected_gene': 'ENSG00000266208', 'score': 4.3}, {'connected_gene': 'IGFBP4', 'score': 3.27}, {'connected_gene': 'GJD3', 'score': 1.75}, {'connected_gene': 'GC17P040473', 'score': 0.34}]
chr17 GH17I040442 40442305 40446199 2.5 [{'connected_gene': 'IGFBP4', 'score': 554.16}, {'connected_gene': 'MED1', 'score': 45.1}, {'connected_gene': 'SMARCE1', 'score': 33.6}, {'connected_gene': 'CDK12', 'score': 28.29}, {'connected_gene': 'SNORD124', 'score': 21.21}, {'connected_gene': 'TOP2A', 'score': 11.52}, {'connected_gene': 'CCR7', 'score': 11.16}, {'connected_gene': 'ENSG00000264968', 'score': 10.27}, {'connected_gene': 'RARA', 'score': 10.27}, {'connected_gene': 'ENSG00000266208', 'score': 7.56}, {'connected_gene': 'RARA-AS1', 'score': 7.08}, {'connected_gene': 'GJD3', 'score': 1.94}, {'connected_gene': 'GC17P040473', 'score': 0.31}]
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 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 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 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 GH17I040275 40275122 40276028 0.72 [{'connected_gene': 'WIPF2', 'score': 11.65}, {'connected_gene': 'RARA', 'score': 10.57}, {'connected_gene': 'TOP2A', 'score': 10.04}, {'connected_gene': 'ENSG00000266208', 'score': 9.39}, {'connected_gene': 'THRA', 'score': 9.36}, {'connected_gene': 'GC17P040282', 'score': 0.77}, {'connected_gene': 'PIR47746', 'score': 0.77}, {'connected_gene': 'GC17P040270', 'score': 0.44}]
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 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 GH17I041307 41307526 41310034 1.24 [{'connected_gene': 'KRTAP16-1', 'score': 550.77}, {'connected_gene': 'KRT38', 'score': 9.76}, {'connected_gene': 'KRT31', 'score': 5.94}, {'connected_gene': 'KRT36', 'score': 5.77}, {'connected_gene': 'TOP2A', 'score': 5.24}, {'connected_gene': 'KRTAP29-1', 'score': 0.44}]
chr17 GH17I040399 40399229 40399398 0.49 [{'connected_gene': 'ENSG00000266208', 'score': 7.11}, {'connected_gene': 'GC17M040377', 'score': 0.44}, {'connected_gene': 'GC17P040406', 'score': 0.44}, {'connected_gene': 'TOP2A', 'score': 0.37}]
chr17 GH17I040410 40410209 40411496 0.31 [{'connected_gene': 'GC17P040406', 'score': 0.77}, {'connected_gene': 'TOP2A', 'score': 0.44}]
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 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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