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
ENST00000273582 [[197398263, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197426057, 197426102], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197476139, 197476570]] [[197401888, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197426057, 197426102], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197444886]]
ENST00000413360 [[197400890, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197426057, 197426102], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001]] [[197401888, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197426057, 197426102], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001]]
ENST00000296343 [[197401888, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463590]] [[197401888, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463590]]
ENST00000415452 [[197403087, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197417944, 197418019], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197427483, 197428017], [197428578, 197428581]] [[197403710, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197417944, 197418019], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197427483, 197428017], [197428578, 197428581]]
ENST00000389665 [[197403710, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197417944, 197418019], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463773]] [[197403710, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197417944, 197418019], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463590]]
ENST00000471364 [[197410177, 197410310], [197411027, 197411088], [197420585, 197420825]] None
ENST00000447048 [[197421287, 197421456], [197422736, 197422852], [197427483, 197427640]] [[197421287, 197421456], [197422736, 197422852], [197427483, 197427640]]
ENST00000449205 [[197427330, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463779]] [[197427436, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463590]]
ENST00000467303 [[197428606, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197476139, 197476598]] None
ENST00000474214 [[197428730, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197463525, 197463784]] None
ENST00000472149 [[197474979, 197475316], [197476139, 197476218]] None
NM_001346873 [[197395737, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197417944, 197418019], [197420585, 197420687], [197421245, 197421456], [197422736, 197422849], [197423824, 197423920], [197426057, 197426102], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463797]] [[197401888, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197417944, 197418019], [197420585, 197420687], [197421245, 197421456], [197422736, 197422849], [197423824, 197423920], [197426057, 197426102], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463590]]
NM_014687 [[197395737, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463797]] [[197401888, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197463525, 197463590]]
NM_001145642 [[197395737, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197426057, 197426102], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197445001], [197476139, 197476570]] [[197401888, 197402067], [197402292, 197402386], [197403755, 197403909], [197404350, 197404412], [197407999, 197408238], [197408705, 197408770], [197409340, 197409486], [197410177, 197410310], [197411027, 197411088], [197420585, 197420687], [197421245, 197421456], [197422736, 197422852], [197423824, 197423920], [197426057, 197426102], [197427483, 197428017], [197428578, 197428735], [197430418, 197430525], [197431412, 197431572], [197431962, 197432046], [197444847, 197444886]]
Promoter
Chrom Start End Description
chr3 197463700 197463805 CAGE_peak_1_at_KIAA0226_5end
chr3 197476196 197476224 CAGE_peak_6_at_KIAA0226_5end
chr3 197476238 197476308 CAGE_peak_3_at_KIAA0226_5end
chr3 197476560 197476577 CAGE_peak_5_at_KIAA0226_5end
chr3 197476580 197476657 CAGE_peak_2_at_KIAA0226_5end
chr3 197476676 197476705 CAGE_peak_4_at_KIAA0226_5end
chr3 197476716 197476731 CAGE_peak_7_at_KIAA0226_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I197748 197748206 197752472 2.47 [{'connected_gene': 'RUBCN', 'score': 555.71}, {'connected_gene': 'FYTTD1', 'score': 552.12}, {'connected_gene': 'LRCH3', 'score': 13.82}, {'connected_gene': 'ENSG00000249626', 'score': 11.12}, {'connected_gene': 'IQCG', 'score': 6.56}, {'connected_gene': 'GC03P197788', 'score': 0.28}]
chr3 GH03I197879 197879990 197881222 0.8 [{'connected_gene': 'RUBCN', 'score': 10.49}, {'connected_gene': 'FYTTD1', 'score': 10.48}, {'connected_gene': 'IQCG', 'score': 8.59}, {'connected_gene': 'SEPT14P3', 'score': 6.08}, {'connected_gene': 'GC03P197886', 'score': 0.44}, {'connected_gene': 'LOC105374310', 'score': 0.31}, {'connected_gene': 'LRCH3', 'score': 0.17}]
chr3 GH03I197878 197878201 197879200 0.49 [{'connected_gene': 'RUBCN', 'score': 10.5}, {'connected_gene': 'FYTTD1', 'score': 10.48}, {'connected_gene': 'IQCG', 'score': 8.63}, {'connected_gene': 'GC03P197886', 'score': 0.44}, {'connected_gene': 'LOC105374310', 'score': 0.31}, {'connected_gene': 'LRCH3', 'score': 0.17}]
chr3 GH03I197733 197733292 197738282 2.55 [{'connected_gene': 'RUBCN', 'score': 552.33}, {'connected_gene': 'FYTTD1', 'score': 550.77}, {'connected_gene': 'LOC220729', 'score': 11.39}, {'connected_gene': 'IQCG', 'score': 5.66}, {'connected_gene': 'LRCH3', 'score': 1.96}, {'connected_gene': 'PIR54031', 'score': 0.29}]
chr3 GH03I197781 197781732 197782855 0.6 [{'connected_gene': 'RUBCN', 'score': 10.88}, {'connected_gene': 'FYTTD1', 'score': 10.83}, {'connected_gene': 'GC03P197788', 'score': 0.44}]
chr3 GH03I197888 197888491 197890812 0.65 [{'connected_gene': 'LRCH3', 'score': 11.76}, {'connected_gene': 'RUBCN', 'score': 9.95}, {'connected_gene': 'FYTTD1', 'score': 9.94}, {'connected_gene': 'IQCG', 'score': 7.04}, {'connected_gene': 'GC03P197896', 'score': 0.77}, {'connected_gene': 'GC03P197886', 'score': 0.77}]
chr3 GH03I197820 197820252 197821808 0.85 [{'connected_gene': 'LRCH3', 'score': 11.83}, {'connected_gene': 'RUBCN', 'score': 10.57}, {'connected_gene': 'FYTTD1', 'score': 10.56}, {'connected_gene': 'MIR922', 'score': 10.03}, {'connected_gene': 'LOC220729', 'score': 5.73}, {'connected_gene': 'ENSG00000234136', 'score': 0.39}]
chr3 GH03I197746 197746801 197747400 0.94 [{'connected_gene': 'LRCH3', 'score': 10.94}, {'connected_gene': 'RUBCN', 'score': 0.77}, {'connected_gene': 'FYTTD1', 'score': 0.44}]
chr3 GH03I197668 197668090 197668259 0.38 [{'connected_gene': 'LRCH3', 'score': 10.51}, {'connected_gene': 'FYTTD1', 'score': 9.52}, {'connected_gene': 'RUBCN', 'score': 9.49}, {'connected_gene': 'ENSG00000236833', 'score': 0.77}, {'connected_gene': 'GC03P197672', 'score': 0.77}]
chr3 GH03I197734 197733070 197733219 0.4 [{'connected_gene': 'FYTTD1', 'score': 0.77}, {'connected_gene': 'RUBCN', 'score': 0.37}, {'connected_gene': 'PIR54031', 'score': 0.29}]
chr3 GH03I197739 197739356 197740227 0.93 [{'connected_gene': 'FYTTD1', 'score': 0.77}, {'connected_gene': 'RUBCN', 'score': 0.44}]
chr3 GH03I197723 197723626 197724739 0.84 [{'connected_gene': 'LOC220729', 'score': 10.14}, {'connected_gene': 'FYTTD1', 'score': 0.39}, {'connected_gene': 'PIR54031', 'score': 0.34}, {'connected_gene': 'RUBCN', 'score': 0.31}]
chr3 GH03I197708 197708464 197709811 0.82 [{'connected_gene': 'LOC220729', 'score': 12.67}, {'connected_gene': 'PIR54031', 'score': 0.44}, {'connected_gene': 'FYTTD1', 'score': 0.31}, {'connected_gene': 'RUBCN', 'score': 0.26}]
chr3 GH03I197717 197717764 197720293 0.99 [{'connected_gene': 'LOC220729', 'score': 14.33}, {'connected_gene': 'PIR54031', 'score': 0.37}, {'connected_gene': 'FYTTD1', 'score': 0.37}, {'connected_gene': 'RUBCN', 'score': 0.29}]
chr3 GH03I197710 197710748 197715146 1.68 [{'connected_gene': 'LOC220729', 'score': 11.69}, {'connected_gene': 'ENSG00000249626', 'score': 11.18}, {'connected_gene': 'IQCG', 'score': 6.72}, {'connected_gene': 'RUBCN', 'score': 2.86}, {'connected_gene': 'LRCH3', 'score': 2.37}, {'connected_gene': 'PIR54031', 'score': 0.39}, {'connected_gene': 'FYTTD1', 'score': 0.34}]
chr3 GH03I197329 197329431 197329725 0.39 [{'connected_gene': 'DLG1', 'score': 1.47}, {'connected_gene': 'RUBCN', 'score': 1.42}, {'connected_gene': 'LOC101926923', 'score': 0.77}, {'connected_gene': 'GC03M197310', 'score': 0.37}]
chr3 GH03I197728 197728201 197728600 0.58 [{'connected_gene': 'MIR922', 'score': 10.68}, {'connected_gene': 'FYTTD1', 'score': 0.44}, {'connected_gene': 'RUBCN', 'score': 0.34}, {'connected_gene': 'PIR54031', 'score': 0.31}]
chr3 GH03I197674 197674387 197675870 0.46 [{'connected_gene': 'MIR922', 'score': 550.77}, {'connected_gene': 'FYTTD1', 'score': 15.94}, {'connected_gene': 'LOC220729', 'score': 12.74}, {'connected_gene': 'RUBCN', 'score': 11.06}, {'connected_gene': 'GC03P197672', 'score': 0.77}, {'connected_gene': 'GC03P197699', 'score': 0.34}]
chr3 GH03I197729 197729548 197731042 0.94 [{'connected_gene': 'MIR922', 'score': 10.21}, {'connected_gene': 'LOC220729', 'score': 9.92}, {'connected_gene': 'FYTTD1', 'score': 0.44}, {'connected_gene': 'RUBCN', 'score': 0.37}, {'connected_gene': 'PIR54031', 'score': 0.31}]
chr3 GH03I197664 197664268 197666776 0.56 [{'connected_gene': 'ENSG00000236833', 'score': 550.77}, {'connected_gene': 'LRCH3', 'score': 10.51}, {'connected_gene': 'FYTTD1', 'score': 9.51}, {'connected_gene': 'RUBCN', 'score': 9.49}, {'connected_gene': 'ENSG00000249626', 'score': 8.38}, {'connected_gene': 'LOC220729', 'score': 6.66}, {'connected_gene': 'ENSG00000273308', 'score': 0.37}]
chr3 GH03I197701 197701250 197702813 0.31 [{'connected_gene': 'PIR54031', 'score': 550.77}, {'connected_gene': 'LOC220729', 'score': 14.12}, {'connected_gene': 'MIR922', 'score': 11.74}, {'connected_gene': 'FYTTD1', 'score': 11.51}, {'connected_gene': 'RUBCN', 'score': 11.48}]
chr3 GH03I197807 197807515 197812459 0.83 [{'connected_gene': 'ENSG00000234136', 'score': 12.03}, {'connected_gene': 'SENP5', 'score': 11.62}, {'connected_gene': 'RUBCN', 'score': 10.75}, {'connected_gene': 'FYTTD1', 'score': 10.73}, {'connected_gene': 'LMLN', 'score': 10.24}, {'connected_gene': 'MELTF-AS1', 'score': 9.96}, {'connected_gene': 'LRCH3', 'score': 0.37}]

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