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
ENST00000577695 [[37894179, 37894386], [37898504, 37898709], [37898818, 37898969], [37899126, 37899175]] [[37898554, 37898709], [37898818, 37898969], [37899126, 37899175]]
ENST00000309156 [[37894179, 37894386], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903537]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903150]]
ENST00000309185 [[37894186, 37894386], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902361, 37902455], [37903003, 37903535]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902361, 37902435]]
ENST00000485182 [[37894201, 37894386], [37898504, 37898709], [37898818, 37899307]] None
ENST00000583813 [[37894214, 37894386], [37898504, 37898668], [37899185, 37899307], [37899432, 37899534]] [[37898554, 37898668], [37899185, 37899230]]
ENST00000584853 [[37894226, 37894386], [37894825, 37895235]] None
ENST00000584819 [[37894558, 37894645], [37898504, 37898709], [37898818, 37899307], [37899432, 37899529], [37899645, 37899723], [37900322, 37900460], [37900805, 37900857]] None
ENST00000394211 [[37894589, 37894645], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903538]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903150]]
ENST00000578702 [[37894605, 37894645], [37898504, 37898709], [37898818, 37898969], [37899432, 37899554], [37899645, 37899723], [37900322, 37900356]] None
ENST00000445327 [[37895023, 37895177], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903544]] [[37895158, 37895177], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903150]]
ENST00000394209 [[37896219, 37896434], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903241]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903150]]
ENST00000584053 [[37896384, 37896434], [37898504, 37898709], [37898818, 37899147]] None
ENST00000394204 [[37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902361, 37902455], [37903003, 37903256]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902361, 37902435]]
ENST00000461756 [[37899186, 37899307], [37899432, 37899865]] None
ENST00000473071 [[37899524, 37899554], [37899645, 37899723], [37900322, 37900681]] None
NM_001330207 [[37894153, 37894386], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902361, 37902455], [37903003, 37903538]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902361, 37902435]]
NM_005310 [[37894161, 37894386], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903538]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903150]]
NM_001030002 [[37894575, 37894645], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903538]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903150]]
NM_001242442 [[37895023, 37895177], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903538]] [[37895158, 37895177], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903150]]
NM_001242443 [[37896219, 37896434], [37898504, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903538]] [[37898554, 37898709], [37898818, 37898969], [37899150, 37899307], [37899432, 37899554], [37899645, 37899723], [37900322, 37900460], [37900805, 37900916], [37901138, 37901237], [37901495, 37901576], [37901674, 37901791], [37901980, 37902041], [37902165, 37902253], [37902361, 37902455], [37903003, 37903150]]
Promoter
Chrom Start End Description
chr17 37894147 37894167 CAGE_peak_4_at_GRB7_5end
chr17 37894179 37894202 CAGE_peak_3_at_GRB7_5end
chr17 37894206 37894222 CAGE_peak_2_at_GRB7_5end
chr17 37894570 37894614 CAGE_peak_1_at_GRB7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I040545 40545162 40546617 0.46 [{'connected_gene': 'MED24', 'score': 4.32}, {'connected_gene': 'GRB7', 'score': 4.12}, {'connected_gene': 'GC17P040542', 'score': 0.77}, {'connected_gene': 'GC17M040528', 'score': 0.77}]
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 GH17I039752 39752500 39752673 0.89 [{'connected_gene': 'ORMDL3', 'score': 10.08}, {'connected_gene': 'GC17M039760', 'score': 0.39}, {'connected_gene': 'GRB7', 'score': 0.39}]
chr17 GH17I039694 39694339 39697219 1.32 [{'connected_gene': 'PGAP3', 'score': 568.28}, {'connected_gene': 'MIEN1', 'score': 12.38}, {'connected_gene': 'GRB7', 'score': 11.65}, {'connected_gene': 'NEUROD2', 'score': 10.52}, {'connected_gene': 'ORMDL3', 'score': 9.9}, {'connected_gene': 'LRRC3C', 'score': 9.9}, {'connected_gene': 'ERBB2', 'score': 0.44}]
chr17 GH17I039686 39686731 39689728 2.25 [{'connected_gene': 'PGAP3', 'score': 565.29}, {'connected_gene': 'ERBB2', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 18.85}, {'connected_gene': 'LOC105371762', 'score': 12.19}, {'connected_gene': 'MIEN1', 'score': 11.41}, {'connected_gene': 'GRB7', 'score': 11.4}, {'connected_gene': 'STARD3', 'score': 11.3}, {'connected_gene': 'SNORA21', 'score': 10.86}, {'connected_gene': 'MED24', 'score': 10.33}, {'connected_gene': 'GC17P039685', 'score': 0.77}]
chr17 GH17I039673 39673953 39681361 2.03 [{'connected_gene': 'PGAP3', 'score': 20.99}, {'connected_gene': 'STARD3', 'score': 12.63}, {'connected_gene': 'NEUROD2', 'score': 11.42}, {'connected_gene': 'RAPGEFL1', 'score': 6.68}, {'connected_gene': 'ORMDL3', 'score': 5.84}, {'connected_gene': 'ERBB2', 'score': 4.28}, {'connected_gene': 'GRB7', 'score': 1.93}, {'connected_gene': 'GSDMB', 'score': 1.41}, {'connected_gene': 'GC17P039685', 'score': 0.44}, {'connected_gene': 'PNMT', 'score': 0.44}]
chr17 GH17I039746 39746677 39747114 0.31 [{'connected_gene': 'PGAP3', 'score': 15.6}, {'connected_gene': 'RNU6-233P', 'score': 11.07}, {'connected_gene': 'ERBB2', 'score': 10.67}, {'connected_gene': 'GSDMB', 'score': 10.13}, {'connected_gene': 'STARD3', 'score': 6.93}, {'connected_gene': 'GRB7', 'score': 0.44}, {'connected_gene': 'GC17M039760', 'score': 0.37}]
chr17 GH17I039709 39709849 39710469 0.38 [{'connected_gene': 'MIEN1', 'score': 12.2}, {'connected_gene': 'GRB7', 'score': 12.17}, {'connected_gene': 'ERBB2', 'score': 11.77}, {'connected_gene': 'NEUROD2', 'score': 10.79}, {'connected_gene': 'PGAP3', 'score': 0.39}, {'connected_gene': 'MIR4728', 'score': 0.37}]
chr17 GH17I039708 39708088 39708742 0.31 [{'connected_gene': 'MIEN1', 'score': 12.2}, {'connected_gene': 'GRB7', 'score': 12.17}, {'connected_gene': 'ERBB2', 'score': 11.77}, {'connected_gene': 'NEUROD2', 'score': 10.79}, {'connected_gene': 'PGAP3', 'score': 0.39}, {'connected_gene': 'MIR4728', '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 GH17I039749 39749638 39751238 1.02 [{'connected_gene': 'GSDMB', 'score': 5.72}, {'connected_gene': 'MED24', 'score': 4.76}, {'connected_gene': 'GC17M039760', 'score': 0.39}, {'connected_gene': 'GRB7', '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 GH17I039760 39760444 39761700 0.2 [{'connected_gene': 'GSDMB', 'score': 6.57}, {'connected_gene': 'GC17M039760', 'score': 0.77}, {'connected_gene': 'GRB7', 'score': 0.34}, {'connected_gene': 'IKZF3', 'score': 0.15}]
chr17 GH17I040119 40119960 40125126 2.24 [{'connected_gene': 'MSL1', 'score': 568.18}, {'connected_gene': 'ENSG00000266208', 'score': 9.3}, {'connected_gene': 'GRB7', 'score': 4.93}, {'connected_gene': 'GC17P040124', 'score': 0.77}, {'connected_gene': 'PIR45757', 'score': 0.77}, {'connected_gene': 'GC17M040122', 'score': 0.77}]
chr17 GH17I039735 39735953 39742261 2.46 [{'connected_gene': 'GRB7', 'score': 556.28}, {'connected_gene': 'PGAP3', 'score': 11.46}, {'connected_gene': 'STARD3', 'score': 11.32}, {'connected_gene': 'GSDMA', 'score': 8.68}, {'connected_gene': 'GSDMB', 'score': 5.89}, {'connected_gene': 'GC17M039760', 'score': 0.34}]
chr17 GH17I039799 39798370 39798448 0.42 [{'connected_gene': 'GRB7', 'score': 10.96}, {'connected_gene': 'MIEN1', 'score': 10.95}, {'connected_gene': 'PGAP3', 'score': 10.11}, {'connected_gene': 'ERBB2', 'score': 10.09}, {'connected_gene': 'GSDMA', 'score': 9.75}, {'connected_gene': 'IKZF3', 'score': 2.88}, {'connected_gene': 'ZPBP2', 'score': 1.36}, {'connected_gene': 'GSDMB', 'score': 1.29}, {'connected_gene': 'GC17P039806', 'score': 0.44}, {'connected_gene': 'GC17P039774', 'score': 0.34}]
chr17 GH17I039715 39715044 39717690 0.49 [{'connected_gene': 'GRB7', 'score': 12.2}, {'connected_gene': 'ERBB2', 'score': 11.75}, {'connected_gene': 'NEUROD2', 'score': 10.78}, {'connected_gene': 'MIR4728', 'score': 0.39}, {'connected_gene': 'PGAP3', 'score': 0.37}]
chr17 GH17I039798 39798746 39801733 1.1 [{'connected_gene': 'GSDMA', 'score': 16.74}, {'connected_gene': 'GSDMB', 'score': 14.76}, {'connected_gene': 'RAPGEFL1', 'score': 11.57}, {'connected_gene': 'GRB7', 'score': 10.96}, {'connected_gene': 'MIEN1', 'score': 10.95}, {'connected_gene': 'PGAP3', 'score': 10.11}, {'connected_gene': 'ERBB2', 'score': 10.09}, {'connected_gene': 'GC17P039806', 'score': 0.44}, {'connected_gene': 'GC17P039774', 'score': 0.31}, {'connected_gene': 'IKZF3', 'score': 0.21}]
chr17 GH17I039790 39790476 39796594 1.21 [{'connected_gene': 'GSDMA', 'score': 16.96}, {'connected_gene': 'IKZF3', 'score': 16.38}, {'connected_gene': 'GSDMB', 'score': 14.75}, {'connected_gene': 'LRRC3C', 'score': 12.46}, {'connected_gene': 'ZPBP2', 'score': 11.76}, {'connected_gene': 'GRB7', 'score': 11.05}, {'connected_gene': 'MIEN1', 'score': 11.04}, {'connected_gene': 'ORMDL3', 'score': 10.7}, {'connected_gene': 'PGAP3', 'score': 10.11}, {'connected_gene': 'ERBB2', 'score': 10.1}, {'connected_gene': 'MED24', 'score': 4.27}, {'connected_gene': 'GC17P039806', 'score': 0.39}, {'connected_gene': 'GC17P039774', 'score': 0.37}]
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 GH17I039698 39698981 39707766 2.66 [{'connected_gene': 'ERBB2', 'score': 557.32}, {'connected_gene': 'GRB7', 'score': 18.55}, {'connected_gene': 'PGAP3', 'score': 17.48}, {'connected_gene': 'MIEN1', 'score': 12.24}, {'connected_gene': 'NEUROD2', 'score': 10.8}, {'connected_gene': 'THRA', 'score': 4.22}, {'connected_gene': 'ORMDL3', 'score': 4.03}, {'connected_gene': 'GSDMB', 'score': 1.57}, {'connected_gene': 'MIR4728', 'score': 0.34}]
chr17 GH17I039683 39683387 39683477 0.31 [{'connected_gene': 'STARD3', 'score': 11.31}, {'connected_gene': 'MIEN1', 'score': 11.23}, {'connected_gene': 'GRB7', 'score': 11.21}, {'connected_gene': 'GC17P039685', 'score': 0.77}, {'connected_gene': 'PGAP3', 'score': 0.39}, {'connected_gene': 'PNMT', 'score': 0.37}]
chr17 GH17I039761 39761836 39764114 0.38 [{'connected_gene': 'GC17M039760', 'score': 550.77}, {'connected_gene': 'ORMDL3', 'score': 6.68}, {'connected_gene': 'GRB7', 'score': 0.31}, {'connected_gene': 'IKZF3', 'score': 0.15}]
chr17 GH17I040117 40117712 40118704 0.86 [{'connected_gene': 'PIR45757', 'score': 550.77}, {'connected_gene': 'GC17M040117', 'score': 550.77}, {'connected_gene': 'GC17M040122', 'score': 550.77}, {'connected_gene': 'MSL1', 'score': 13.81}, {'connected_gene': 'GRB7', 'score': 4.76}]

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