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
ENST00000340699 [[164528643, 164528766], [164528958, 164529250], [164532474, 164532548], [164761730, 164761975]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975]]
ENST00000420696 [[164528871, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164821068]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164815913]]
ENST00000498497 [[164529059, 164529250], [164532474, 164532548], [164651366, 164654202]] None
ENST00000401534 [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164790773, 164790820]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164790773, 164790820]]
ENST00000559240 [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164790773, 164790863], [164815820, 164815913]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164790773, 164790863], [164815820, 164815913]]
ENST00000367897 [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164790773, 164790863], [164815820, 164816192]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164790773, 164790820]]
ENST00000540236 [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164818576, 164818639]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164818576, 164818639]]
ENST00000559578 [[164532041, 164532167], [164532474, 164532548], [164761730, 164761975], [164768935, 164769120]] [[164532499, 164532548], [164761730, 164761975], [164768935, 164769120]]
ENST00000560469 [[164546020, 164546241], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164816338]] None
ENST00000496120 [[164559586, 164559671], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164816338]] None
ENST00000468104 [[164574429, 164574656], [164595165, 164595333], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164816308]] None
ENST00000560641 [[164595242, 164595333], [164626349, 164626609], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164816338]] [[164761780, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164815913]]
ENST00000474046 [[164595272, 164595333], [164610265, 164611430], [164611929, 164612066], [164643726, 164644053], [164651546, 164651720]] None
ENST00000482110 [[164600217, 164600353], [164761730, 164761975], [164768935, 164769126]] [[164761780, 164761975], [164768935, 164769126]]
ENST00000558796 [[164621132, 164621376], [164800707, 164800720], [164868424, 164868533]] None
ENST00000558837 [[164742148, 164742259], [164761730, 164761975], [164768935, 164769126], [164776778, 164776808]] [[164761780, 164761975], [164768935, 164769126], [164776778, 164776808]]
ENST00000559560 [[164756879, 164756990], [164761730, 164761975], [164768935, 164769033]] [[164761780, 164761975], [164768935, 164769033]]
ENST00000467023 [[164524820, 164524956], [164532474, 164532548], [164533164, 164533252]] None
ENST00000485769 [[164528436, 164528766], [164528958, 164529250], [164529382, 164529594]] [[164529059, 164529250], [164529382, 164529404]]
ENST00000605467 [[164529249, 164529687]] None
ENST00000540246 [[164761728, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164853778, 164854300]] [[164761780, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164853778, 164853799]]
ENST00000465089 [[164781964, 164789421], [164790773, 164790863], [164815820, 164819594]] None
NM_001204961 [[164528596, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164790773, 164790863], [164815820, 164821067]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164790773, 164790820]]
NM_001204963 [[164528596, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164818576, 164821067]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164818576, 164818639]]
NM_002585 [[164528596, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164821067]] [[164529059, 164529250], [164532474, 164532548], [164761730, 164761975], [164768935, 164769126], [164776778, 164776914], [164781226, 164781386], [164789308, 164789421], [164790773, 164790863], [164815820, 164815913]]
Promoter
Chrom Start End Description
chr1 164528276 164528286 CAGE_peak_14_at_PBX1_5end
chr1 164528297 164528309 CAGE_peak_9_at_PBX1_5end
chr1 164528340 164528379 CAGE_peak_4_at_PBX1_5end
chr1 164528384 164528409 CAGE_peak_3_at_PBX1_5end
chr1 164528410 164528428 CAGE_peak_1_at_PBX1_5end
chr1 164528445 164528459 CAGE_peak_2_at_PBX1_5end
chr1 164528588 164528610 CAGE_peak_8_at_PBX1_5end
chr1 164528616 164528660 CAGE_peak_5_at_PBX1_5end
chr1 164528667 164528674 CAGE_peak_18_at_PBX1_5end
chr1 164528687 164528711 CAGE_peak_6_at_PBX1_5end
chr1 164528866 164528877 CAGE_peak_12_at_PBX1_5end
chr1 164528911 164528940 CAGE_peak_7_at_PBX1_5end
chr1 164528942 164528964 CAGE_peak_11_at_PBX1_5end
chr1 164528975 164528998 CAGE_peak_13_at_PBX1_5end
chr1 164529004 164529015 CAGE_peak_15_at_PBX1_5end
chr1 164559541 164559546 CAGE_peak_52_at_PBX1_5end
chr1 164559556 164559568 CAGE_peak_21_at_PBX1_5end
chr1 164559583 164559590 CAGE_peak_50_at_PBX1_5end
chr1 164600166 164600175 CAGE_peak_47_at_PBX1_5end
chr1 164600184 164600191 CAGE_peak_38_at_PBX1_5end
chr1 164818496 164818503 CAGE_peak_26_at_PBX1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I164779 164779415 164785170 1.33 [{'connected_gene': 'PBX1', 'score': 1.87}, {'connected_gene': 'LOC100505795', 'score': 0.44}, {'connected_gene': 'ENSG00000271917', 'score': 0.25}]
chr1 GH01I164764 164764906 164777440 1.67 [{'connected_gene': 'PBX1', 'score': 1.3}, {'connected_gene': 'LOC100505795', 'score': 0.77}, {'connected_gene': 'ENSG00000276359', 'score': 0.2}]
chr1 GH01I164716 164716725 164717599 1.07 [{'connected_gene': 'PBX1', 'score': 10.15}, {'connected_gene': 'ENSG00000276359', 'score': 0.39}, {'connected_gene': 'LOC100505795', 'score': 0.22}]
chr1 GH01I164705 164705848 164709653 1.21 [{'connected_gene': 'PBX1', 'score': 10.43}, {'connected_gene': 'ENSG00000276359', 'score': 0.77}, {'connected_gene': 'LOC100505795', 'score': 0.2}]
chr1 GH01I164722 164722475 164724224 0.2 [{'connected_gene': 'PBX1', 'score': 5.62}, {'connected_gene': 'ENSG00000276359', 'score': 0.34}, {'connected_gene': 'LOC100505795', 'score': 0.23}]
chr1 GH01I164699 164699355 164702866 1.31 [{'connected_gene': 'PBX1', 'score': 9.7}, {'connected_gene': 'ENSG00000276359', 'score': 0.77}, {'connected_gene': 'ENSG00000269887', 'score': 0.34}]
chr1 GH01I164591 164591464 164592859 1.02 [{'connected_gene': 'PBX1', 'score': 0.28}, {'connected_gene': 'GC01P164639', 'score': 0.25}]
chr1 GH01I164575 164575000 164579589 0.89 [{'connected_gene': 'PBX1', 'score': 11.66}, {'connected_gene': 'GC01P164639', 'score': 0.21}]
chr1 GH01I164568 164568861 164570494 0.31 [{'connected_gene': 'PBX1', 'score': 0.39}, {'connected_gene': 'GC01P164639', 'score': 0.2}]
chr1 GH01I164621 164621211 164623988 1.63 [{'connected_gene': 'PBX1', 'score': 10.55}, {'connected_gene': 'GC01P164639', 'score': 0.37}]
chr1 GH01I164582 164582723 164584074 0.2 [{'connected_gene': 'PBX1', 'score': 11.41}, {'connected_gene': 'GC01P164639', 'score': 0.22}]
chr1 GH01I164586 164586468 164591000 1.54 [{'connected_gene': 'PBX1', 'score': 11.36}, {'connected_gene': 'GC01P164639', 'score': 0.23}]
chr1 GH01I164557 164557658 164564401 2.14 [{'connected_gene': 'PBX1', 'score': 564.09}, {'connected_gene': 'GC01P164639', 'score': 0.18}]
chr1 GH01I164608 164608600 164608801 0.4 [{'connected_gene': 'RNU6-171P', 'score': 11.7}, {'connected_gene': 'GC01P164639', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.23}]
chr1 GH01I164599 164599248 164603782 1.27 [{'connected_gene': 'RNU6-171P', 'score': 11.26}, {'connected_gene': 'GC01P164639', 'score': 0.28}, {'connected_gene': 'PBX1', 'score': 0.25}]
chr1 GH01I164663 164663225 164664403 0.56 [{'connected_gene': 'RNU6-171P', 'score': 12.34}, {'connected_gene': 'ENSG00000269887', 'score': 0.37}, {'connected_gene': 'PBX1', 'score': 0.14}]
chr1 GH01I164610 164610389 164614253 1.4 [{'connected_gene': 'RNU6-171P', 'score': 11.72}, {'connected_gene': 'GC01P164639', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.22}]
chr1 GH01I164564 164564800 164565001 0.81 [{'connected_gene': 'RNU6-171P', 'score': 11.0}, {'connected_gene': 'PBX1', 'score': 0.44}, {'connected_gene': 'GC01P164639', 'score': 0.19}]
chr1 GH01I164657 164657931 164662672 1.05 [{'connected_gene': 'RNU6-171P', 'score': 12.34}, {'connected_gene': 'ENSG00000269887', 'score': 5.71}, {'connected_gene': 'PBX1', 'score': 0.15}]
chr1 GH01I164753 164753493 164754842 0.85 [{'connected_gene': 'LOC100505795', 'score': 11.53}, {'connected_gene': 'PBX1', 'score': 2.14}, {'connected_gene': 'ENSG00000276359', 'score': 0.23}]
chr1 GH01I164801 164801097 164802500 0.51 [{'connected_gene': 'LOC100505795', 'score': 11.81}, {'connected_gene': 'ENSG00000271917', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.07}]
chr1 GH01I164793 164793984 164795057 0.92 [{'connected_gene': 'LOC100505795', 'score': 0.37}, {'connected_gene': 'ENSG00000271917', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.07}]
chr1 GH01I164731 164731022 164732285 0.31 [{'connected_gene': 'LOC100505795', 'score': 12.22}, {'connected_gene': 'ENSG00000276359', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.1}]
chr1 GH01I164733 164733184 164733333 0.52 [{'connected_gene': 'LOC100505795', 'score': 12.22}, {'connected_gene': 'ENSG00000276359', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.1}]
chr1 GH01I164788 164788909 164791460 0.2 [{'connected_gene': 'LOC100505795', 'score': 0.37}, {'connected_gene': 'ENSG00000271917', 'score': 0.28}, {'connected_gene': 'PBX1', 'score': 0.07}]
chr1 GH01I164735 164735519 164736498 0.89 [{'connected_gene': 'LOC100505795', 'score': 12.24}, {'connected_gene': 'ENSG00000276359', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.09}]
chr1 GH01I164746 164746127 164751049 1.53 [{'connected_gene': 'LOC100505795', 'score': 11.76}, {'connected_gene': 'PBX1', 'score': 4.36}, {'connected_gene': 'ENSG00000276359', 'score': 0.25}]
chr1 GH01I164796 164796325 164798055 0.2 [{'connected_gene': 'LOC100505795', 'score': 0.34}, {'connected_gene': 'ENSG00000271917', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.07}]
chr1 GH01I164751 164751333 164752532 0.51 [{'connected_gene': 'LOC100505795', 'score': 11.53}, {'connected_gene': 'ENSG00000276359', 'score': 0.25}, {'connected_gene': 'PBX1', 'score': 0.08}]
chr1 GH01I164758 164758460 164761361 0.56 [{'connected_gene': 'LOC100505795', 'score': 0.39}, {'connected_gene': 'ENSG00000276359', 'score': 0.22}, {'connected_gene': 'PBX1', 'score': 0.08}]
chr1 GH01I164711 164711536 164713260 1.77 [{'connected_gene': 'LOC100505795', 'score': 11.78}, {'connected_gene': 'PBX1', 'score': 10.16}, {'connected_gene': 'ENSG00000276359', 'score': 0.44}]
chr1 GH01I164754 164754995 164756228 0.97 [{'connected_gene': 'LOC100505795', 'score': 0.37}, {'connected_gene': 'ENSG00000276359', 'score': 0.23}, {'connected_gene': 'PBX1', 'score': 0.08}]
chr1 GH01I164785 164785392 164788587 1.27 [{'connected_gene': 'LOC100505795', 'score': 0.39}, {'connected_gene': 'ENSG00000271917', 'score': 0.26}, {'connected_gene': 'PBX1', 'score': 0.07}]
chr1 GH01I164644 164644050 164646023 1.22 [{'connected_gene': 'LOC100505795', 'score': 10.15}, {'connected_gene': 'RNU6-171P', 'score': 0.44}, {'connected_gene': 'ENSG00000269887', 'score': 0.28}, {'connected_gene': 'PBX1', 'score': 0.17}]
chr1 GH01I164646 164646127 164654230 1.68 [{'connected_gene': 'LOC100505795', 'score': 10.14}, {'connected_gene': 'RNU6-171P', 'score': 0.39}, {'connected_gene': 'ENSG00000269887', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.16}]
chr1 GH01I164703 164703125 164704969 1.43 [{'connected_gene': 'ENSG00000276359', 'score': 550.77}, {'connected_gene': 'PBX1', 'score': 9.73}, {'connected_gene': 'LOC100505795', 'score': 0.19}]
chr1 GH01I164604 164604978 164605574 0.51 [{'connected_gene': 'GC01P164639', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.25}]
chr1 GH01I164615 164615611 164616570 0.2 [{'connected_gene': 'GC01P164639', 'score': 0.34}, {'connected_gene': 'PBX1', 'score': 0.21}]
chr1 GH01I164617 164617944 164618113 0.79 [{'connected_gene': 'GC01P164639', 'score': 0.34}, {'connected_gene': 'PBX1', 'score': 0.21}]
chr1 GH01I164619 164619201 164619400 0.58 [{'connected_gene': 'GC01P164639', 'score': 0.34}, {'connected_gene': 'PBX1', 'score': 0.21}]
chr1 GH01I164420 164420014 164420151 0.37 [{'connected_gene': 'GC01P164405', 'score': 0.39}, {'connected_gene': 'PBX1', 'score': 0.12}]
chr1 GH01I164418 164418776 164419051 0.34 [{'connected_gene': 'GC01P164405', 'score': 0.39}, {'connected_gene': 'PBX1', 'score': 0.12}]
chr1 GH01I164687 164687512 164688746 0.2 [{'connected_gene': 'ENSG00000269887', 'score': 0.44}, {'connected_gene': 'ENSG00000276359', 'score': 0.37}, {'connected_gene': 'PBX1', 'score': 0.12}]
chr1 GH01I164618 164617156 164617839 0.89 [{'connected_gene': 'GC01P164639', 'score': 0.34}, {'connected_gene': 'PBX1', 'score': 0.21}]
chr1 GH01I164688 164688875 164690922 1.09 [{'connected_gene': 'ENSG00000269887', 'score': 0.44}, {'connected_gene': 'ENSG00000276359', 'score': 0.39}, {'connected_gene': 'PBX1', 'score': 0.12}]
chr1 GH01I164682 164682008 164684805 0.89 [{'connected_gene': 'ENSG00000269887', 'score': 0.77}, {'connected_gene': 'ENSG00000276359', 'score': 0.37}, {'connected_gene': 'PBX1', 'score': 0.13}]
chr1 GH01I164836 164836270 164837557 0.63 [{'connected_gene': 'ENSG00000271917', 'score': 0.44}, {'connected_gene': 'GC01P164854', 'score': 0.37}, {'connected_gene': 'PBX1', 'score': 0.06}]
chr1 GH01I164675 164675384 164676622 0.43 [{'connected_gene': 'ENSG00000269887', 'score': 0.77}, {'connected_gene': 'RNU6-171P', 'score': 0.28}, {'connected_gene': 'PBX1', 'score': 0.13}]
chr1 GH01I164673 164673804 164673893 0.59 [{'connected_gene': 'ENSG00000269887', 'score': 0.44}, {'connected_gene': 'RNU6-171P', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.13}]
chr1 GH01I164668 164668338 164669800 0.2 [{'connected_gene': 'ENSG00000269887', 'score': 0.39}, {'connected_gene': 'RNU6-171P', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.14}]
chr1 GH01I164630 164630341 164643064 2.06 [{'connected_gene': 'GC01P164639', 'score': 0.77}, {'connected_gene': 'RNU6-171P', 'score': 0.77}, {'connected_gene': 'PBX1', 'score': 0.18}]
chr1 GH01I164674 164672201 164672400 0.4 [{'connected_gene': 'ENSG00000269887', 'score': 0.44}, {'connected_gene': 'RNU6-171P', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.13}]
chr1 GH01I164672 164672950 164673711 0.56 [{'connected_gene': 'ENSG00000269887', 'score': 0.44}, {'connected_gene': 'RNU6-171P', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.13}]
chr1 GH01I164671 164671401 164671800 0.4 [{'connected_gene': 'ENSG00000269887', 'score': 0.44}, {'connected_gene': 'RNU6-171P', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.13}]
chr1 GH01I164676 164673949 164675012 0.57 [{'connected_gene': 'ENSG00000269887', 'score': 0.44}, {'connected_gene': 'RNU6-171P', 'score': 0.29}, {'connected_gene': 'PBX1', 'score': 0.13}]
chr1 GH01I164719 164719000 164719400 0.2 [{'connected_gene': 'ENSG00000276359', 'score': 0.37}, {'connected_gene': 'LOC100505795', 'score': 0.22}, {'connected_gene': 'PBX1', 'score': 0.1}]
chr1 GH01I164803 164803047 164803948 0.38 [{'connected_gene': 'ENSG00000271917', 'score': 0.34}, {'connected_gene': 'LOC100505795', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.07}]
chr1 GH01I164823 164823484 164824327 0.31 [{'connected_gene': 'ENSG00000271917', 'score': 0.77}, {'connected_gene': 'LOC100505795', 'score': 0.25}, {'connected_gene': 'PBX1', 'score': 0.06}]
chr1 GH01I164725 164725154 164727043 0.65 [{'connected_gene': 'ENSG00000276359', 'score': 0.34}, {'connected_gene': 'LOC100505795', 'score': 0.25}, {'connected_gene': 'PBX1', 'score': 0.09}]
chr1 GH01I164804 164804066 164804468 0.2 [{'connected_gene': 'ENSG00000271917', 'score': 0.34}, {'connected_gene': 'LOC100505795', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.07}]
chr1 GH01I164805 164804504 164804653 0.2 [{'connected_gene': 'ENSG00000271917', 'score': 0.34}, {'connected_gene': 'LOC100505795', 'score': 0.31}, {'connected_gene': 'PBX1', 'score': 0.07}]

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