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
ENST00000380563 [[57884230, 57884307], [57896466, 57896553], [57910230, 57910386], [57917976, 57918090], [57921899, 57922052], [57924631, 57924757], [57925810, 57925939], [57929892, 57929972], [57931637, 57931743], [57953647, 57953731], [57967165, 57967266], [57976599, 57976872], [57998131, 57999153], [58000911, 58001556], [58004181, 58004386], [58027664, 58027793]] [[57999040, 57999153], [58000911, 58001556], [58004181, 58004386], [58027664, 58027793]]
ENST00000482852 [[57998909, 57999153], [58000911, 58001556], [58004181, 58004386], [58027664, 58027852], [58043368, 58043644], [58069792, 58069943], [58073773, 58074960]] [[57999040, 57999153], [58000911, 58001556], [58004181, 58004386], [58027664, 58027793]]
ENST00000299638 [[57998826, 57999153], [58000911, 58001556], [58004181, 58004386], [58006733, 58009755]] [[57999040, 57999153], [58000911, 58001556], [58004181, 58004386], [58006733, 58006877]]
ENST00000494490 [[57998892, 57999343], [58000911, 58001556], [58004181, 58004386], [58006733, 58007080]] [[57999040, 57999157]]
ENST00000464277 [[57998900, 57999339], [58000911, 58001382]] [[57999040, 57999157]]
ENST00000567643 [[57998911, 57999153], [57999664, 57999764], [58000911, 58001160]] None
ENST00000380557 [[57998922, 57999153], [58001382, 58001556], [58004181, 58004386], [58006733, 58009752]] [[57999040, 57999153], [58001382, 58001556], [58004181, 58004386], [58006733, 58006877]]
ENST00000464308 [[57999285, 57999408], [58000911, 58001531]] None
ENST00000562260 [[58038304, 58038417], [58039097, 58039174], [58043368, 58043672]] None
NM_001018102 [[57998718, 57999153], [58001382, 58001556], [58004181, 58004386], [58006733, 58009755]] [[57999040, 57999153], [58001382, 58001556], [58004181, 58004386], [58006733, 58006877]]
NM_015532 [[57998718, 57999153], [58000911, 58001556], [58004181, 58004386], [58006733, 58009755]] [[57999040, 57999153], [58000911, 58001556], [58004181, 58004386], [58006733, 58006877]]
Promoter
Chrom Start End Description
chr15 57884199 57884213 CAGE_peak_2_at_POLR2M_5end,CAGE_peak_3_at_GCOM1_5end
chr15 57998821 57998833 CAGE_peak_4_at_POLR2M_5end
chr15 57998849 57998867 CAGE_peak_3_at_POLR2M_5end
chr15 57998870 57998917 CAGE_peak_1_at_POLR2M_5end
chr15 57998927 57998934 CAGE_peak_6_at_POLR2M_5end
chr15 57999263 57999269 CAGE_peak_7_at_POLR2M_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr15 GH15I057534 57534343 57534552 0.31 [{'connected_gene': 'CGNL1', 'score': 11.49}, {'connected_gene': 'RNU6-844P', 'score': 10.31}, {'connected_gene': 'GCOM1', 'score': 10.14}, {'connected_gene': 'POLR2M', 'score': 10.01}, {'connected_gene': 'GC15P057541', 'score': 0.44}, {'connected_gene': 'ENSG00000261265', 'score': 0.44}]
chr15 GH15I057536 57536662 57537827 0.79 [{'connected_gene': 'CGNL1', 'score': 18.75}, {'connected_gene': 'RNU6-844P', 'score': 10.3}, {'connected_gene': 'GCOM1', 'score': 10.15}, {'connected_gene': 'POLR2M', 'score': 10.01}, {'connected_gene': 'GC15P057541', 'score': 0.77}, {'connected_gene': 'ENSG00000261265', 'score': 0.44}]
chr15 GH15I057485 57485269 57486940 0.95 [{'connected_gene': 'CGNL1', 'score': 17.05}, {'connected_gene': 'RNU6-844P', 'score': 10.13}, {'connected_gene': 'GCOM1', 'score': 9.65}, {'connected_gene': 'POLR2M', 'score': 9.58}, {'connected_gene': 'ENSG00000261489', 'score': 0.44}, {'connected_gene': 'GC15P057502', 'score': 0.39}, {'connected_gene': 'GC15P057500', 'score': 0.39}, {'connected_gene': 'PIR54453', 'score': 0.39}, {'connected_gene': 'GC15P057501', 'score': 0.39}, {'connected_gene': 'GC15P057503', 'score': 0.39}]
chr15 GH15I057726 57726672 57727679 0.31 [{'connected_gene': 'POLR2M', 'score': 6.1}, {'connected_gene': 'LOC105370834', 'score': 0.44}, {'connected_gene': 'ENSG00000261219', 'score': 0.44}]
chr15 GH15I057640 57640654 57641300 0.43 [{'connected_gene': 'POLR2M', 'score': 15.66}, {'connected_gene': 'GCOM1', 'score': 10.87}, {'connected_gene': 'RNU6-844P', 'score': 9.61}, {'connected_gene': 'GC15M057616', 'score': 0.77}, {'connected_gene': 'MYZAP', 'score': 0.25}]
chr15 GH15I057684 57684833 57687037 0.96 [{'connected_gene': 'POLR2M', 'score': 10.43}, {'connected_gene': 'GCOM1', 'score': 10.25}, {'connected_gene': 'RNU6-844P', 'score': 9.82}, {'connected_gene': 'GC15P057690', 'score': 0.77}, {'connected_gene': 'GC15P057674', 'score': 0.39}, {'connected_gene': 'MYZAP', 'score': 0.16}]
chr15 GH15I057682 57682362 57683562 0.31 [{'connected_gene': 'POLR2M', 'score': 10.43}, {'connected_gene': 'GCOM1', 'score': 10.25}, {'connected_gene': 'GC15P057674', 'score': 0.44}, {'connected_gene': 'GC15P057690', 'score': 0.44}, {'connected_gene': 'MYZAP', 'score': 0.16}]
chr15 GH15I057652 57652454 57653447 0.2 [{'connected_gene': 'POLR2M', 'score': 10.9}, {'connected_gene': 'GCOM1', 'score': 10.87}, {'connected_gene': 'GC15M057616', 'score': 0.44}, {'connected_gene': 'GC15P057669', 'score': 0.37}, {'connected_gene': 'MYZAP', 'score': 0.21}]
chr15 GH15I057692 57692401 57692600 0.4 [{'connected_gene': 'POLR2M', 'score': 7.77}, {'connected_gene': 'GC15P057690', 'score': 0.77}, {'connected_gene': 'GC15P057674', 'score': 0.37}, {'connected_gene': 'GCOM1', 'score': 0.15}]
chr15 GH15I057705 57705779 57708684 2.26 [{'connected_gene': 'POLR2M', 'score': 559.03}, {'connected_gene': 'ENSG00000261219', 'score': 0.39}, {'connected_gene': 'GC15P057674', 'score': 0.29}, {'connected_gene': 'GCOM1', 'score': 0.13}]
chr15 GH15I057703 57703583 57703712 0.46 [{'connected_gene': 'POLR2M', 'score': 0.77}, {'connected_gene': 'GC15P057690', 'score': 0.39}, {'connected_gene': 'GC15P057674', 'score': 0.31}, {'connected_gene': 'GCOM1', 'score': 0.14}]
chr15 GH15I057732 57732601 57733000 1.06 [{'connected_gene': 'LOC105370834', 'score': 550.77}, {'connected_gene': 'POLR2M', 'score': 0.31}, {'connected_gene': 'GC15P057774', 'score': 0.26}]
chr15 GH15I057751 57751323 57751452 0.52 [{'connected_gene': 'LOC105370834', 'score': 0.37}, {'connected_gene': 'GC15P057774', 'score': 0.34}, {'connected_gene': 'POLR2M', 'score': 0.26}]
chr15 GH15I057752 57752603 57752812 0.49 [{'connected_gene': 'LOC105370834', 'score': 0.34}, {'connected_gene': 'GC15P057774', 'score': 0.34}, {'connected_gene': 'POLR2M', 'score': 0.25}]
chr15 GH15I057746 57746754 57747633 0.72 [{'connected_gene': 'LOC105370834', 'score': 0.39}, {'connected_gene': 'GC15P057774', 'score': 0.31}, {'connected_gene': 'POLR2M', 'score': 0.26}]
chr15 GH15I057561 57559723 57559872 0.63 [{'connected_gene': 'GCOM1', 'score': 11.72}, {'connected_gene': 'POLR2M', 'score': 11.53}, {'connected_gene': 'CGNL1', 'score': 10.48}, {'connected_gene': 'RNU6-844P', 'score': 10.18}, {'connected_gene': 'RPS13P7', 'score': 0.77}, {'connected_gene': 'GC15P057580', 'score': 0.34}]
chr15 GH15I057559 57559903 57560172 0.94 [{'connected_gene': 'GCOM1', 'score': 11.72}, {'connected_gene': 'POLR2M', 'score': 11.53}, {'connected_gene': 'CGNL1', 'score': 10.79}, {'connected_gene': 'RNU6-844P', 'score': 10.18}, {'connected_gene': 'MYZAP', 'score': 4.68}, {'connected_gene': 'RPS13P7', 'score': 0.77}, {'connected_gene': 'GC15P057580', 'score': 0.34}]
chr15 GH15I057560 57560209 57562669 1.43 [{'connected_gene': 'GCOM1', 'score': 11.41}, {'connected_gene': 'POLR2M', 'score': 11.23}, {'connected_gene': 'CGNL1', 'score': 10.79}, {'connected_gene': 'MYZAP', 'score': 6.95}, {'connected_gene': 'RPS13P7', 'score': 0.44}, {'connected_gene': 'GC15P057580', 'score': 0.37}]
chr15 GH15I057625 57625823 57625972 0.4 [{'connected_gene': 'GCOM1', 'score': 11.77}, {'connected_gene': 'POLR2M', 'score': 11.65}, {'connected_gene': 'CGNL1', 'score': 9.58}, {'connected_gene': 'GC15M057616', 'score': 0.37}, {'connected_gene': 'MYZAP', 'score': 0.29}]
chr15 GH15I057626 57626575 57628036 0.2 [{'connected_gene': 'GCOM1', 'score': 11.75}, {'connected_gene': 'POLR2M', 'score': 11.66}, {'connected_gene': 'CGNL1', 'score': 9.58}, {'connected_gene': 'GC15M057616', 'score': 0.37}, {'connected_gene': 'MYZAP', 'score': 0.28}]
chr15 GH15I057544 57544747 57545838 0.2 [{'connected_gene': 'GCOM1', 'score': 11.04}, {'connected_gene': 'POLR2M', 'score': 10.89}, {'connected_gene': 'GC15P057541', 'score': 0.77}, {'connected_gene': 'ENSG00000276772', 'score': 0.44}, {'connected_gene': 'CGNL1', 'score': 0.1}]
chr15 GH15I057545 57545948 57546926 0.38 [{'connected_gene': 'GCOM1', 'score': 11.04}, {'connected_gene': 'POLR2M', 'score': 10.89}, {'connected_gene': 'GC15P057541', 'score': 0.77}, {'connected_gene': 'ENSG00000276772', 'score': 0.44}, {'connected_gene': 'CGNL1', 'score': 0.09}]
chr15 GH15I057649 57649670 57652231 0.2 [{'connected_gene': 'GCOM1', 'score': 10.89}, {'connected_gene': 'POLR2M', 'score': 10.89}, {'connected_gene': 'RNU6-844P', 'score': 9.75}, {'connected_gene': 'MYZAP', 'score': 5.84}, {'connected_gene': 'GC15M057616', 'score': 0.44}, {'connected_gene': 'GC15P057669', 'score': 0.37}]
chr15 GH15I057642 57642956 57643705 0.2 [{'connected_gene': 'GCOM1', 'score': 32.68}, {'connected_gene': 'POLR2M', 'score': 11.16}, {'connected_gene': 'RNU6-844P', 'score': 9.43}, {'connected_gene': 'GC15M057616', 'score': 0.77}, {'connected_gene': 'MYZAP', 'score': 0.23}]
chr15 GH15I057633 57633714 57635990 0.51 [{'connected_gene': 'GCOM1', 'score': 46.53}, {'connected_gene': 'POLR2M', 'score': 15.2}, {'connected_gene': 'RNU6-844P', 'score': 10.03}, {'connected_gene': 'MYZAP', 'score': 5.55}, {'connected_gene': 'GC15M057616', 'score': 0.39}]
chr15 GH15I057636 57636612 57638690 0.31 [{'connected_gene': 'GCOM1', 'score': 30.35}, {'connected_gene': 'POLR2M', 'score': 15.91}, {'connected_gene': 'RNU6-844P', 'score': 9.62}, {'connected_gene': 'GC15M057616', 'score': 0.44}, {'connected_gene': 'MYZAP', 'score': 0.25}]
chr15 GH15I057639 57639104 57640191 0.2 [{'connected_gene': 'GCOM1', 'score': 16.38}, {'connected_gene': 'POLR2M', 'score': 10.83}, {'connected_gene': 'RNU6-844P', 'score': 9.62}, {'connected_gene': 'MYZAP', 'score': 5.91}, {'connected_gene': 'GC15M057616', 'score': 0.44}]
chr15 GH15I057630 57630091 57633265 0.2 [{'connected_gene': 'GCOM1', 'score': 20.82}, {'connected_gene': 'POLR2M', 'score': 11.24}, {'connected_gene': 'RNU6-844P', 'score': 10.03}, {'connected_gene': 'GC15M057616', 'score': 0.39}, {'connected_gene': 'MYZAP', 'score': 0.28}]
chr15 GH15I057653 57653721 57655719 0.84 [{'connected_gene': 'GCOM1', 'score': 22.93}, {'connected_gene': 'POLR2M', 'score': 10.9}, {'connected_gene': 'GC15M057616', 'score': 0.44}, {'connected_gene': 'GC15P057669', 'score': 0.39}, {'connected_gene': 'MYZAP', 'score': 0.21}]
chr15 GH15I057628 57628066 57628210 0.42 [{'connected_gene': 'GCOM1', 'score': 11.32}, {'connected_gene': 'POLR2M', 'score': 11.23}, {'connected_gene': 'GC15M057616', 'score': 0.37}, {'connected_gene': 'MYZAP', 'score': 0.28}]
chr15 GH15I057570 57570316 57571959 0.69 [{'connected_gene': 'GCOM1', 'score': 17.98}, {'connected_gene': 'ZNF280D', 'score': 14.75}, {'connected_gene': 'MYZAP', 'score': 12.38}, {'connected_gene': 'POLR2M', 'score': 11.68}, {'connected_gene': 'CGNL1', 'score': 10.51}, {'connected_gene': 'TCF12', 'score': 10.17}, {'connected_gene': 'RNU6-844P', 'score': 9.74}, {'connected_gene': 'GC15P057580', 'score': 0.44}, {'connected_gene': 'RPS13P7', 'score': 0.39}]
chr15 GH15I057565 57565201 57567523 0.97 [{'connected_gene': 'MYZAP', 'score': 14.12}, {'connected_gene': 'GCOM1', 'score': 11.87}, {'connected_gene': 'POLR2M', 'score': 11.67}, {'connected_gene': 'CGNL1', 'score': 10.79}, {'connected_gene': 'RNU6-844P', 'score': 9.7}, {'connected_gene': 'RPS13P7', 'score': 0.44}, {'connected_gene': 'GC15P057580', 'score': 0.39}]
chr15 GH15I057673 57673073 57673883 0.31 [{'connected_gene': 'GC15P057674', 'score': 550.77}, {'connected_gene': 'POLR2M', 'score': 10.52}, {'connected_gene': 'GCOM1', 'score': 10.41}, {'connected_gene': 'RNU6-844P', 'score': 9.74}, {'connected_gene': 'MYZAP', 'score': 5.54}, {'connected_gene': 'GC15P057669', 'score': 0.77}]
chr15 GH15I057675 57675160 57676249 0.51 [{'connected_gene': 'GC15P057674', 'score': 550.77}, {'connected_gene': 'POLR2M', 'score': 10.52}, {'connected_gene': 'GCOM1', 'score': 10.41}, {'connected_gene': 'RNU6-844P', 'score': 9.74}, {'connected_gene': 'GC15P057690', 'score': 0.39}, {'connected_gene': 'MYZAP', 'score': 0.18}]
chr15 GH15I057776 57776003 57776880 0.2 [{'connected_gene': 'GC15P057777', 'score': 550.77}, {'connected_gene': 'GC15P057774', 'score': 550.77}, {'connected_gene': 'POLR2M', 'score': 0.2}]
chr15 GH15I057690 57690079 57691885 0.31 [{'connected_gene': 'GC15P057690', 'score': 550.77}, {'connected_gene': 'RNU6-844P', 'score': 9.83}, {'connected_gene': 'POLR2M', 'score': 8.53}, {'connected_gene': 'GC15P057674', 'score': 0.37}, {'connected_gene': 'GCOM1', 'score': 0.15}]
chr15 GH15I057772 57772663 57772832 0.46 [{'connected_gene': 'GC15P057774', 'score': 550.77}, {'connected_gene': 'LOC105370834', 'score': 0.26}, {'connected_gene': 'POLR2M', 'score': 0.2}]
chr15 GH15I057768 57768716 57769957 0.51 [{'connected_gene': 'GC15P057774', 'score': 0.44}, {'connected_gene': 'LOC105370834', 'score': 0.28}, {'connected_gene': 'POLR2M', 'score': 0.21}]
chr15 GH15I057547 57547968 57556803 1.09 [{'connected_gene': 'ENSG00000276772', 'score': 550.77}, {'connected_gene': 'GCOM1', 'score': 11.7}, {'connected_gene': 'POLR2M', 'score': 11.53}, {'connected_gene': 'CGNL1', 'score': 10.84}, {'connected_gene': 'RNU6-844P', 'score': 10.78}, {'connected_gene': 'MYZAP', 'score': 7.03}, {'connected_gene': 'RPS13P7', 'score': 0.77}, {'connected_gene': 'GC15P057541', 'score': 0.39}]
chr15 GH15I057542 57542283 57542492 0.84 [{'connected_gene': 'GC15P057541', 'score': 550.77}, {'connected_gene': 'GCOM1', 'score': 10.82}, {'connected_gene': 'POLR2M', 'score': 10.67}, {'connected_gene': 'CGNL1', 'score': 10.3}, {'connected_gene': 'ENSG00000276772', 'score': 0.39}]
chr15 GH15I057541 57540852 57540992 0.76 [{'connected_gene': 'GC15P057541', 'score': 550.77}, {'connected_gene': 'GCOM1', 'score': 10.8}, {'connected_gene': 'POLR2M', 'score': 10.67}, {'connected_gene': 'CGNL1', 'score': 10.29}, {'connected_gene': 'ENSG00000261265', 'score': 0.39}]

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