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
ENST00000403729 [[80822302, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80994240]] [[80828582, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80993714]]
ENST00000449651 [[80826724, 80827326], [80828558, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80945790, 80945909], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992774]] [[80945806, 80945909], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990654]]
ENST00000482406 [[80827915, 80828621], [80885818, 80886044]] None
ENST00000491345 [[80828323, 80828621], [80885992, 80886251]] None
ENST00000404191 [[80828506, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80994548, 80994626]] [[80828582, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990654]]
ENST00000506286 [[80990589, 80990661], [80992736, 80992808], [81018653, 81018783], [81018890, 81019115], [81025616, 81025691], [81042301, 81042431], [81046539, 81046608]] None
ENST00000346652 [[80898690, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80993854]] [[80898732, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80993714]]
ENST00000307333 [[80898732, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80993717]] [[80898732, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80993714]]
ENST00000295465 [[80945806, 80945909], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80994477]] [[80945806, 80945909], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80993714]]
ENST00000514959 [[80975434, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [81000506, 81000754]] None
NM_058172 [[80822770, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80994477]] [[80828582, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80993714]]
NM_001286781 [[80822770, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993862, 80994477]] [[80828582, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990654]]
NM_001286780 [[80822770, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80994548, 80994626]] [[80828582, 80828621], [80898774, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990654]]
NM_001145794 [[80898660, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80994477]] [[80898732, 80898855], [80899160, 80899328], [80905031, 80905124], [80905972, 80906017], [80929674, 80929770], [80940051, 80940130], [80952776, 80952846], [80954625, 80954724], [80957125, 80957186], [80975425, 80975506], [80976303, 80976372], [80976513, 80976621], [80977085, 80977167], [80990589, 80990661], [80992736, 80992808], [80993562, 80993714]]
Promoter
Chrom Start End Description
chr4 80976472 80976514 CAGE_peak_33_at_ANTXR2_5end
chr4 80976547 80976566 CAGE_peak_30_at_ANTXR2_5end
chr4 80993800 80993850 CAGE_peak_5_at_ANTXR2_5end
chr4 80993855 80993906 CAGE_peak_3_at_ANTXR2_5end
chr4 80993907 80993923 CAGE_peak_13_at_ANTXR2_5end
chr4 80993925 80993962 CAGE_peak_4_at_ANTXR2_5end
chr4 80994001 80994019 CAGE_peak_14_at_ANTXR2_5end
chr4 80994187 80994198 CAGE_peak_15_at_ANTXR2_5end
chr4 80994210 80994284 CAGE_peak_2_at_ANTXR2_5end
chr4 80994298 80994313 CAGE_peak_8_at_ANTXR2_5end
chr4 80994327 80994339 CAGE_peak_9_at_ANTXR2_5end
chr4 80994351 80994402 CAGE_peak_1_at_ANTXR2_5end
chr4 80994404 80994413 CAGE_peak_16_at_ANTXR2_5end
chr4 80994415 80994426 CAGE_peak_11_at_ANTXR2_5end
chr4 80994471 80994485 CAGE_peak_7_at_ANTXR2_5end
chr4 80994619 80994633 CAGE_peak_6_at_ANTXR2_5end
chr4 81000791 81000826 CAGE_peak_10_at_ANTXR2_5end
chr4 81046621 81046641 CAGE_peak_32_at_ANTXR2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I080077 80077307 80080200 1.21 [{'connected_gene': 'KPNA2P1', 'score': 550.77}, {'connected_gene': 'ANTXR2', 'score': 24.35}, {'connected_gene': 'PRDM8', 'score': 15.38}, {'connected_gene': 'LOC105377303', 'score': 12.16}, {'connected_gene': 'GC04M079948', 'score': 0.15}]
chr4 GH04I080065 80065361 80066856 0.49 [{'connected_gene': 'KPNA2P1', 'score': 0.39}, {'connected_gene': 'ANTXR2', 'score': 0.22}, {'connected_gene': 'GC04M079948', 'score': 0.18}]
chr4 GH04I080196 80196001 80198343 2.46 [{'connected_gene': 'PRDM8', 'score': 558.37}, {'connected_gene': 'GC04M080195', 'score': 550.77}, {'connected_gene': 'ANTXR2', 'score': 17.4}, {'connected_gene': 'LOC105377303', 'score': 0.44}, {'connected_gene': 'GC04M080167', 'score': 0.22}]
chr4 GH04I080180 80180818 80181140 0.47 [{'connected_gene': 'PRDM8', 'score': 15.28}, {'connected_gene': 'ANTXR2', 'score': 4.47}, {'connected_gene': 'RPSAP39', 'score': 0.37}, {'connected_gene': 'GC04M080167', 'score': 0.19}]
chr4 GH04I080137 80137484 80140715 1.44 [{'connected_gene': 'PRDM8', 'score': 12.21}, {'connected_gene': 'ANTXR2', 'score': 11.99}, {'connected_gene': 'RPSAP39', 'score': 0.34}]
chr4 GH04I080005 80005570 80008702 1.17 [{'connected_gene': 'PRDM8', 'score': 11.53}, {'connected_gene': 'LOC105377303', 'score': 11.53}, {'connected_gene': 'ANTXR2', 'score': 5.55}, {'connected_gene': 'GC04M079948', 'score': 0.34}, {'connected_gene': 'KPNA2P1', 'score': 0.19}]
chr4 GH04I080114 80114617 80116470 0.57 [{'connected_gene': 'PRDM8', 'score': 11.0}, {'connected_gene': 'LOC105377303', 'score': 10.98}, {'connected_gene': 'ANTXR2', 'score': 0.44}, {'connected_gene': 'KPNA2P1', 'score': 0.28}]
chr4 GH04I080112 80112387 80112536 0.2 [{'connected_gene': 'PRDM8', 'score': 10.97}, {'connected_gene': 'LOC105377303', 'score': 10.96}, {'connected_gene': 'ANTXR2', 'score': 0.39}, {'connected_gene': 'KPNA2P1', 'score': 0.29}]
chr4 GH04I080016 80016320 80018518 0.69 [{'connected_gene': 'PRDM8', 'score': 11.16}, {'connected_gene': 'LOC105377303', 'score': 11.16}, {'connected_gene': 'ANTXR2', 'score': 5.74}, {'connected_gene': 'GC04M079948', 'score': 0.28}, {'connected_gene': 'KPNA2P1', 'score': 0.21}]
chr4 GH04I080043 80043707 80043856 0.63 [{'connected_gene': 'PRDM8', 'score': 11.24}, {'connected_gene': 'LOC105377303', 'score': 11.23}, {'connected_gene': 'ANTXR2', 'score': 10.85}, {'connected_gene': 'KPNA2P1', 'score': 0.28}, {'connected_gene': 'GC04M079948', 'score': 0.21}]
chr4 GH04I080128 80128926 80129822 0.66 [{'connected_gene': 'PRDM8', 'score': 12.09}, {'connected_gene': 'LOC105377303', 'score': 12.07}, {'connected_gene': 'ANTXR2', 'score': 0.77}, {'connected_gene': 'RPSAP39', 'score': 0.29}]
chr4 GH04I080134 80134740 80136876 1.3 [{'connected_gene': 'PRDM8', 'score': 11.49}, {'connected_gene': 'LOC105377303', 'score': 11.47}, {'connected_gene': 'ANTXR2', 'score': 1.77}, {'connected_gene': 'RPSAP39', 'score': 0.31}]
chr4 GH04I080154 80154010 80155421 0.57 [{'connected_gene': 'PRDM8', 'score': 12.5}, {'connected_gene': 'LOC105377303', 'score': 12.47}, {'connected_gene': 'ANTXR2', 'score': 11.32}, {'connected_gene': 'RPSAP39', 'score': 0.44}]
chr4 GH04I080054 80054913 80056236 0.38 [{'connected_gene': 'PRDM8', 'score': 10.94}, {'connected_gene': 'LOC105377303', 'score': 10.93}, {'connected_gene': 'LINC00989', 'score': 4.12}, {'connected_gene': 'KPNA2P1', 'score': 0.34}, {'connected_gene': 'ANTXR2', 'score': 0.2}, {'connected_gene': 'GC04M079948', 'score': 0.19}]
chr4 GH04I080049 80049202 80050904 0.38 [{'connected_gene': 'PRDM8', 'score': 10.67}, {'connected_gene': 'LOC105377303', 'score': 10.66}, {'connected_gene': 'LINC00989', 'score': 4.63}, {'connected_gene': 'KPNA2P1', 'score': 0.31}, {'connected_gene': 'GC04M079948', 'score': 0.2}, {'connected_gene': 'ANTXR2', 'score': 0.18}]
chr4 GH04I080144 80144414 80147141 0.38 [{'connected_gene': 'PRDM8', 'score': 6.99}, {'connected_gene': 'RPSAP39', 'score': 0.37}, {'connected_gene': 'ANTXR2', 'score': 0.34}]
chr4 GH04I080122 80122342 80123342 0.52 [{'connected_gene': 'ANTXR2', 'score': 0.77}, {'connected_gene': 'KPNA2P1', 'score': 0.26}]
chr4 GH04I080076 80076286 80076557 0.76 [{'connected_gene': 'ANTXR2', 'score': 9.41}, {'connected_gene': 'PRDM8', 'score': 5.11}, {'connected_gene': 'KPNA2P1', 'score': 0.77}, {'connected_gene': 'GC04M079948', 'score': 0.16}]
chr4 GH04I080069 80069104 80075835 2.52 [{'connected_gene': 'ANTXR2', 'score': 572.66}, {'connected_gene': 'PRDM8', 'score': 3.96}, {'connected_gene': 'KPNA2P1', 'score': 0.44}, {'connected_gene': 'GC04M079948', 'score': 0.16}]
chr4 GH04I080171 80171179 80174413 1.21 [{'connected_gene': 'ANTXR2', 'score': 19.33}, {'connected_gene': 'PRDM8', 'score': 11.97}, {'connected_gene': 'FGF5', 'score': 10.06}, {'connected_gene': 'RPSAP39', 'score': 0.39}, {'connected_gene': 'GC04M080167', 'score': 0.18}]
chr4 GH04I080100 80100821 80102350 1.07 [{'connected_gene': 'ANTXR2', 'score': 17.31}, {'connected_gene': 'PRDM8', 'score': 11.94}, {'connected_gene': 'LOC105377303', 'score': 11.93}, {'connected_gene': 'KPNA2P1', 'score': 0.34}]
chr4 GH04I080045 80045045 80047218 0.2 [{'connected_gene': 'ANTXR2', 'score': 15.49}, {'connected_gene': 'PRDM8', 'score': 11.24}, {'connected_gene': 'LOC105377303', 'score': 11.23}, {'connected_gene': 'KPNA2P1', 'score': 0.29}, {'connected_gene': 'GC04M079948', 'score': 0.21}]
chr4 GH04I080096 80096812 80098556 0.8 [{'connected_gene': 'ANTXR2', 'score': 12.07}, {'connected_gene': 'PRDM8', 'score': 11.93}, {'connected_gene': 'LOC105377303', 'score': 11.92}, {'connected_gene': 'KPNA2P1', 'score': 0.37}]
chr4 GH04I080053 80053052 80054868 0.31 [{'connected_gene': 'ANTXR2', 'score': 11.03}, {'connected_gene': 'PRDM8', 'score': 10.94}, {'connected_gene': 'LOC105377303', 'score': 10.93}, {'connected_gene': 'LINC00989', 'score': 4.1}, {'connected_gene': 'KPNA2P1', 'score': 0.31}, {'connected_gene': 'GC04M079948', 'score': 0.19}]
chr4 GH04I080057 80057612 80060593 1.53 [{'connected_gene': 'ANTXR2', 'score': 12.97}, {'connected_gene': 'PRDM8', 'score': 11.81}, {'connected_gene': 'LOC105377303', 'score': 11.8}, {'connected_gene': 'LINC00989', 'score': 4.64}, {'connected_gene': 'KPNA2P1', 'score': 0.34}, {'connected_gene': 'GC04M079948', 'score': 0.18}]
chr4 GH04I080123 80123877 80128516 1.67 [{'connected_gene': 'ANTXR2', 'score': 560.31}, {'connected_gene': 'PRDM8', 'score': 15.85}, {'connected_gene': 'LOC105377303', 'score': 12.06}, {'connected_gene': 'RPSAP39', 'score': 0.29}]
chr4 GH04I080141 80141202 80144280 1.63 [{'connected_gene': 'ANTXR2', 'score': 9.98}, {'connected_gene': 'PRDM8', 'score': 9.18}, {'connected_gene': 'RPSAP39', 'score': 0.37}]
chr4 GH04I080201 80201085 80203800 1.2 [{'connected_gene': 'ANTXR2', 'score': 17.92}, {'connected_gene': 'PRDM8', 'score': 5.61}, {'connected_gene': 'GC04M080195', 'score': 0.44}, {'connected_gene': 'GC04M080238', 'score': 0.28}, {'connected_gene': 'GC04M080167', 'score': 0.23}]
chr4 GH04I080061 80061752 80063484 0.46 [{'connected_gene': 'ANTXR2', 'score': 17.09}, {'connected_gene': 'LOC105377303', 'score': 11.69}, {'connected_gene': 'PRDM8', 'score': 11.69}, {'connected_gene': 'LINC00989', 'score': 5.05}, {'connected_gene': 'KPNA2P1', 'score': 0.37}, {'connected_gene': 'GC04M079948', 'score': 0.18}]
chr4 GH04I080034 80034950 80038267 1.13 [{'connected_gene': 'ANTXR2', 'score': 5.54}, {'connected_gene': 'LINC00989', 'score': 4.61}, {'connected_gene': 'KPNA2P1', 'score': 0.26}, {'connected_gene': 'GC04M079948', 'score': 0.23}]
chr4 GH04I079964 79964334 79965376 0.46 [{'connected_gene': 'ANTXR2', 'score': 4.38}, {'connected_gene': 'GC04M079948', 'score': 0.37}, {'connected_gene': 'GC04P079935', 'score': 0.31}]
chr4 GH04I079649 79649922 79653122 0.96 [{'connected_gene': 'PCAT4', 'score': 10.51}, {'connected_gene': 'LINC00989', 'score': 5.77}, {'connected_gene': 'ANTXR2', 'score': 5.06}, {'connected_gene': 'LINC02469', 'score': 0.39}, {'connected_gene': 'GC04P079613', 'score': 0.28}]
chr4 GH04I080011 80011370 80012806 0.43 [{'connected_gene': 'LOC105377303', 'score': 11.53}, {'connected_gene': 'PRDM8', 'score': 11.53}, {'connected_gene': 'ANTXR2', 'score': 5.54}, {'connected_gene': 'LINC00989', 'score': 5.02}, {'connected_gene': 'GC04M079948', 'score': 0.31}, {'connected_gene': 'KPNA2P1', 'score': 0.2}]
chr4 GH04I080192 80192394 80193804 0.77 [{'connected_gene': 'LOC105377303', 'score': 550.77}, {'connected_gene': 'ANTXR2', 'score': 16.72}, {'connected_gene': 'PRDM8', 'score': 5.36}, {'connected_gene': 'GC04M080195', 'score': 0.77}, {'connected_gene': 'GC04M080167', 'score': 0.21}]
chr4 GH04I080188 80188868 80190800 0.89 [{'connected_gene': 'LOC105377303', 'score': 550.77}, {'connected_gene': 'ANTXR2', 'score': 5.57}, {'connected_gene': 'PRDM8', 'score': 0.44}, {'connected_gene': 'GC04M080167', 'score': 0.2}]
chr4 GH04I080162 80162067 80162121 0.38 [{'connected_gene': 'RPSAP39', 'score': 550.77}, {'connected_gene': 'PRDM8', 'score': 12.14}, {'connected_gene': 'LOC105377303', 'score': 12.11}, {'connected_gene': 'ANTXR2', 'score': 10.62}]
chr4 GH04I079982 79982031 79983691 0.31 [{'connected_gene': 'GC04M079948', 'score': 550.77}, {'connected_gene': 'KPNA2P1', 'score': 0.15}, {'connected_gene': 'ANTXR2', 'score': 0.11}]
chr4 GH04I079979 79979395 79981162 0.5 [{'connected_gene': 'GC04M079948', 'score': 550.77}, {'connected_gene': 'ANTXR2', 'score': 4.21}, {'connected_gene': 'GC04P079935', 'score': 0.25}]
chr4 GH04I079905 79905934 79906161 0.4 [{'connected_gene': 'GC04P079904', 'score': 550.77}, {'connected_gene': 'PCAT4', 'score': 10.37}, {'connected_gene': 'GC04P079935', 'score': 0.31}, {'connected_gene': 'ANTXR2', 'score': 0.08}]

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