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
ENST00000366542 [[243287729, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305617, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349080, 243349374], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388623], [243418341, 243418352]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305617, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349080, 243349374], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388582]]
ENST00000366544 [[243287729, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305617, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388623], [243418341, 243418623]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305617, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388582]]
ENST00000366543 [[243287729, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305587, 243305765], [243319522, 243319649], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388623], [243418341, 243418623]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305587, 243305765], [243319522, 243319649], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388582]]
ENST00000522191 [[243363915, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388623], [243417652, 243417772]] [[243363915, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388582]]
ENST00000523424 [[243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388623], [243416403, 243416622]] [[243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388582]]
ENST00000522522 [[243374514, 243375266], [243385025, 243385115], [243388477, 243388623], [243418341, 243418533]] None
ENST00000522995 [[243375196, 243375266], [243385025, 243385115], [243388477, 243388623], [243418348, 243418650]] [[243375196, 243375266], [243385025, 243385115], [243388477, 243388582]]
ENST00000523581 [[243384856, 243385115], [243388477, 243388623], [243418341, 243418518]] None
ENST00000468254 [[243287730, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303665]] None
ENST00000481987 [[243288194, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305587, 243305765], [243319522, 243320123]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305587, 243305765], [243319522, 243319611]]
ENST00000336415 [[243288465, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305587, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349080, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364116]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305587, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349080, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364116]]
ENST00000466495 [[243289219, 243289436], [243289679, 243289796], [243289914, 243290000]] None
ENST00000476661 [[243289223, 243289436], [243289914, 243290040], [243291550, 243291602], [243292661, 243292741]] None
ENST00000490813 [[243289646, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305668, 243305765], [243319522, 243319649], [243326574, 243326620]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305668, 243305765], [243319522, 243319611]]
ENST00000439296 [[243289710, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299606]] None
ENST00000469646 [[243289985, 243290040], [243291550, 243292157]] None
ENST00000413359 [[243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305668, 243305765], [243319522, 243319649], [243327585, 243327796]] [[243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305668, 243305765], [243319522, 243319649], [243327585, 243327796]]
ENST00000464936 [[243292674, 243292755], [243299444, 243299533], [243303238, 243303409], [243305668, 243305765], [243319522, 243319757], [243326574, 243326642]] [[243292674, 243292755], [243299444, 243299533], [243303238, 243303409], [243305668, 243305765], [243319522, 243319611]]
ENST00000468697 [[243299053, 243299533], [243303238, 243303376]] None
ENST00000492145 [[243303285, 243303409], [243305668, 243305765], [243319522, 243319757], [243326459, 243326612]] [[243303285, 243303409], [243305668, 243305765], [243319522, 243319611]]
ENST00000451408 [[243328220, 243329418], [243329828, 243329874]] None
ENST00000518289 [[243329290, 243329418], [243332929, 243333056], [243335998, 243336148], [243338324, 243338490]] None
ENST00000522895 [[243332741, 243333056], [243335998, 243336148], [243349560, 243349711]] [[243332837, 243333056], [243335998, 243336148], [243349560, 243349711]]
ENST00000461671 [[243332995, 243333056], [243335998, 243336148], [243340003, 243340118], [243349080, 243349374], [243349560, 243349582]] [[243340076, 243340118], [243349080, 243349374], [243349560, 243349582]]
ENST00000521911 [[243336112, 243336148], [243349080, 243349374], [243349560, 243349801]] None
NM_014812 [[243287729, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305617, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349080, 243349374], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388623], [243418341, 243418708]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305617, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349080, 243349374], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388582]]
NM_001042404 [[243287729, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305617, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388623], [243418341, 243418708]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305617, 243305765], [243319522, 243319757], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388582]]
NM_001042405 [[243287729, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305587, 243305765], [243319522, 243319649], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388623], [243418341, 243418708]] [[243289750, 243290040], [243291550, 243291602], [243292661, 243292755], [243299444, 243299533], [243303238, 243303409], [243305587, 243305765], [243319522, 243319649], [243327585, 243329418], [243332929, 243333056], [243335998, 243336148], [243349560, 243349724], [243354319, 243354796], [243362361, 243362496], [243363819, 243363982], [243364078, 243364137], [243375187, 243375266], [243385025, 243385115], [243388477, 243388582]]
Promoter
Chrom Start End Description
chr1 243326619 243326642 CAGE_peak_15_at_CEP170_5end
chr1 243349656 243349665 CAGE_peak_21_at_CEP170_5end
chr1 243349684 243349695 CAGE_peak_14_at_CEP170_5end
chr1 243417685 243417700 CAGE_peak_16_at_CEP170_5end
chr1 243417762 243417788 CAGE_peak_13_at_CEP170_5end
chr1 243418344 243418356 CAGE_peak_9_at_CEP170_5end
chr1 243418359 243418382 CAGE_peak_2_at_CEP170_5end
chr1 243418447 243418457 CAGE_peak_10_at_CEP170_5end
chr1 243418472 243418591 CAGE_peak_1_at_CEP170_5end
chr1 243418621 243418648 CAGE_peak_4_at_CEP170_5end
chr1 243418650 243418664 CAGE_peak_6_at_CEP170_5end
chr1 243418740 243418751 CAGE_peak_11_at_CEP170_5end
chr1 243418777 243418796 CAGE_peak_7_at_CEP170_5end
chr1 243418998 243419012 CAGE_peak_8_at_CEP170_5end
chr1 243419021 243419028 CAGE_peak_20_at_CEP170_5end
chr1 243419039 243419063 CAGE_peak_5_at_CEP170_5end
chr1 243419073 243419095 CAGE_peak_3_at_CEP170_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I243323 243323699 243324050 0.38 [{'connected_gene': 'CEP170', 'score': 6.49}, {'connected_gene': 'SDCCAG8', 'score': 2.52}, {'connected_gene': 'PIR31594', 'score': 0.44}, {'connected_gene': 'MIR4677', 'score': 0.34}]
chr1 GH01I243260 243260601 243261400 0.51 [{'connected_gene': 'CEP170', 'score': 4.86}, {'connected_gene': 'SDCCAG8', 'score': 0.44}, {'connected_gene': 'FCF1P7', 'score': 0.44}]
chr1 GH01I243470 243470536 243474900 1.37 [{'connected_gene': 'CEP170', 'score': 3.17}, {'connected_gene': 'AKT3', 'score': 2.54}, {'connected_gene': 'GC01P243494', 'score': 0.34}, {'connected_gene': 'PIR38464', 'score': 0.26}, {'connected_gene': 'SDCCAG8', 'score': 0.08}]
chr1 GH01I243216 243215399 243215548 0.43 [{'connected_gene': 'CEP170', 'score': 0.28}, {'connected_gene': 'ENSG00000232085', 'score': 0.23}]
chr1 GH01I243234 243234039 243234188 0.31 [{'connected_gene': 'CEP170', 'score': 0.34}, {'connected_gene': 'ENSG00000232085', 'score': 0.2}]
chr1 GH01I243236 243236601 243236800 0.58 [{'connected_gene': 'CEP170', 'score': 0.37}, {'connected_gene': 'ENSG00000232085', 'score': 0.19}]
chr1 GH01I243101 243101000 243102248 1.44 [{'connected_gene': 'LINC01347', 'score': 550.77}, {'connected_gene': 'SDCCAG8', 'score': 19.96}, {'connected_gene': 'CEP170', 'score': 4.26}, {'connected_gene': 'RNU6-747P', 'score': 0.34}]
chr1 GH01I243916 243916004 243918776 1.35 [{'connected_gene': 'LOC339529', 'score': 550.77}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'DESI2', 'score': 14.31}, {'connected_gene': 'AKT3', 'score': 13.29}, {'connected_gene': 'HNRNPU', 'score': 11.14}, {'connected_gene': 'ENSG00000236031', 'score': 9.99}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'CEP170', 'score': 4.68}]
chr1 GH01I243113 243113905 243114975 0.96 [{'connected_gene': 'SDCCAG8', 'score': 18.56}, {'connected_gene': 'CEP170', 'score': 5.1}, {'connected_gene': 'LINC01347', 'score': 0.39}, {'connected_gene': 'ENSG00000227230', 'score': 0.34}]
chr1 GH01I243293 243293783 243295952 0.66 [{'connected_gene': 'SDCCAG8', 'score': 39.53}, {'connected_gene': 'CEP170', 'score': 13.06}, {'connected_gene': 'PIR31594', 'score': 0.34}, {'connected_gene': 'FCF1P7', 'score': 0.31}]
chr1 GH01I243283 243283802 243289392 1.44 [{'connected_gene': 'SDCCAG8', 'score': 27.15}, {'connected_gene': 'CEP170', 'score': 10.31}, {'connected_gene': 'FCF1P7', 'score': 0.37}, {'connected_gene': 'PIR31594', 'score': 0.29}]
chr1 GH01I243251 243251095 243257776 2.31 [{'connected_gene': 'SDCCAG8', 'score': 578.64}, {'connected_gene': 'CEP170', 'score': 556.12}, {'connected_gene': 'AKT3', 'score': 13.68}, {'connected_gene': 'ENSG00000236031', 'score': 13.32}, {'connected_gene': 'PLD5', 'score': 10.42}, {'connected_gene': 'ENSG00000232085', 'score': 0.17}]
chr1 GH01I243204 243204385 243206226 0.72 [{'connected_gene': 'SDCCAG8', 'score': 23.03}, {'connected_gene': 'ENSG00000232085', 'score': 0.26}, {'connected_gene': 'CEP170', 'score': 0.23}]
chr1 GH01I243249 243249801 243250000 0.31 [{'connected_gene': 'SDCCAG8', 'score': 13.7}, {'connected_gene': 'CEP170', 'score': 0.44}, {'connected_gene': 'ENSG00000232085', 'score': 0.17}]
chr1 GH01I243244 243244201 243245200 0.63 [{'connected_gene': 'SDCCAG8', 'score': 25.91}, {'connected_gene': 'CEP170', 'score': 0.39}, {'connected_gene': 'ENSG00000232085', 'score': 0.18}]
chr1 GH01I243235 243234862 243236183 0.76 [{'connected_gene': 'SDCCAG8', 'score': 7.13}, {'connected_gene': 'CEP170', 'score': 0.37}, {'connected_gene': 'ENSG00000232085', 'score': 0.19}]
chr1 GH01I243215 243215619 243215768 0.43 [{'connected_gene': 'SDCCAG8', 'score': 24.54}, {'connected_gene': 'CEP170', 'score': 0.28}, {'connected_gene': 'ENSG00000232085', 'score': 0.23}]
chr1 GH01I243246 243246801 243248400 0.78 [{'connected_gene': 'SDCCAG8', 'score': 25.94}, {'connected_gene': 'CEP170', 'score': 6.28}, {'connected_gene': 'ENSG00000232085', 'score': 0.18}]
chr1 GH01I243262 243262404 243271089 1.57 [{'connected_gene': 'FCF1P7', 'score': 550.77}, {'connected_gene': 'SDCCAG8', 'score': 27.26}, {'connected_gene': 'CEP170', 'score': 8.72}]
chr1 GH01I243420 243420601 243422606 1.77 [{'connected_gene': 'AKT3', 'score': 10.51}, {'connected_gene': 'CEP170', 'score': 4.88}, {'connected_gene': 'SDCCAG8', 'score': 1.76}, {'connected_gene': 'PIR38464', 'score': 0.44}, {'connected_gene': 'GC01P243396', 'score': 0.34}]
chr1 GH01I243477 243477801 243478141 0.47 [{'connected_gene': 'AKT3', 'score': 5.56}, {'connected_gene': 'CEP170', 'score': 3.5}, {'connected_gene': 'SDCCAG8', 'score': 1.45}, {'connected_gene': 'GC01P243494', 'score': 0.37}, {'connected_gene': 'PIR38464', 'score': 0.25}]

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