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
ENST00000281453 [[185615771, 185616555], [185618800, 185618957], [185621973, 185622035], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655287]] [[185616441, 185616555], [185618800, 185618957], [185621973, 185622035], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655216]]
ENST00000510146 [[185616155, 185616555], [185618800, 185618957], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655284]] [[185618918, 185618957], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655216]]
ENST00000502461 [[185616282, 185616555], [185618800, 185619250]] None
ENST00000508095 [[185616502, 185616555], [185618800, 185618957], [185621973, 185622035], [185623242, 185623635]] None
ENST00000506535 [[185619347, 185619472], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185631479, 185631560], [185634097, 185634167], [185635022, 185635095]] None
ENST00000541971 [[185620728, 185620756], [185621973, 185622035], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655216]] [[185620728, 185620756], [185621973, 185622035], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655216]]
ENST00000514781 [[185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185654451, 185654568]] [[185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652082]]
NM_024629 [[185615218, 185616555], [185618800, 185618957], [185621973, 185622035], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655286]] [[185616441, 185616555], [185618800, 185618957], [185621973, 185622035], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655216]]
NR_104593 [[185615218, 185616555], [185618800, 185618957], [185623242, 185623290], [185623516, 185623595], [185631225, 185631334], [185634097, 185634167], [185637550, 185637787], [185638289, 185638350], [185646110, 185646216], [185650071, 185650189], [185652073, 185652122], [185655169, 185655286]] None
Promoter
Chrom Start End Description
chr4 185654511 185654524 CAGE_peak_3_at_MLF1IP_5end
chr4 185655212 185655260 CAGE_peak_1_at_MLF1IP_5end
chr4 185655278 185655291 CAGE_peak_2_at_MLF1IP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I184583 184583447 184584400 0.59 [{'connected_gene': 'CASP3', 'score': 5.5}, {'connected_gene': 'CENPU', 'score': 4.88}, {'connected_gene': 'LOC100129245', 'score': 0.34}, {'connected_gene': 'PIR42069', 'score': 0.29}, {'connected_gene': 'LINC02365', 'score': 0.26}]
chr4 GH04I184287 184287288 184289451 1.57 [{'connected_gene': 'CASP3', 'score': 14.51}, {'connected_gene': 'IRF2', 'score': 14.21}, {'connected_gene': 'ENSG00000251878', 'score': 11.16}, {'connected_gene': 'PRIMPOL', 'score': 10.29}, {'connected_gene': 'LINC02363', 'score': 9.68}, {'connected_gene': 'MYL12BP2', 'score': 6.1}, {'connected_gene': 'ENPP6', 'score': 5.62}, {'connected_gene': 'CENPU', 'score': 4.93}, {'connected_gene': 'LOC105377582', 'score': 0.44}, {'connected_gene': 'RN7SL28P', 'score': 0.44}]
chr4 GH04I184858 184858801 184859000 0.51 [{'connected_gene': 'CENPU', 'score': 5.43}, {'connected_gene': 'MIR3945HG', 'score': 0.77}, {'connected_gene': 'LINC01093', 'score': 0.26}]
chr4 GH04I184777 184777711 184781280 0.49 [{'connected_gene': 'CENPU', 'score': 11.07}, {'connected_gene': 'SLED1', 'score': 0.37}, {'connected_gene': 'PIR41861', 'score': 0.28}, {'connected_gene': 'ACSL1', 'score': 0.25}]
chr4 GH04I184782 184782416 184783451 0.83 [{'connected_gene': 'CENPU', 'score': 11.34}, {'connected_gene': 'SLED1', 'score': 0.37}, {'connected_gene': 'PIR41861', 'score': 0.26}, {'connected_gene': 'ACSL1', 'score': 0.26}]
chr4 GH04I184775 184775050 184777675 0.72 [{'connected_gene': 'CENPU', 'score': 11.1}, {'connected_gene': 'SLED1', 'score': 0.34}, {'connected_gene': 'PIR41861', 'score': 0.29}, {'connected_gene': 'ACSL1', 'score': 0.23}]
chr4 GH04I184771 184771708 184774690 0.31 [{'connected_gene': 'CENPU', 'score': 11.17}, {'connected_gene': 'SLED1', 'score': 0.31}, {'connected_gene': 'PIR41861', 'score': 0.29}, {'connected_gene': 'ACSL1', 'score': 0.23}]
chr4 GH04I185542 185542466 185543305 0.4 [{'connected_gene': 'CENPU', 'score': 4.4}, {'connected_gene': 'PDLIM3', 'score': 0.44}, {'connected_gene': 'ENSG00000233110', 'score': 0.25}]
chr4 GH04I184755 184755321 184756036 0.4 [{'connected_gene': 'CENPU', 'score': 11.84}, {'connected_gene': 'ACSL1', 'score': 11.66}, {'connected_gene': 'PIR41861', 'score': 0.39}, {'connected_gene': 'SLED1', 'score': 0.26}]
chr4 GH04I184745 184745591 184749735 1.29 [{'connected_gene': 'CENPU', 'score': 14.19}, {'connected_gene': 'ENSG00000251139', 'score': 12.65}, {'connected_gene': 'ACSL1', 'score': 12.63}, {'connected_gene': 'HELT', 'score': 11.11}, {'connected_gene': 'CASP3', 'score': 10.83}, {'connected_gene': 'PRIMPOL', 'score': 10.83}, {'connected_gene': 'PIR41861', 'score': 0.44}, {'connected_gene': 'SLED1', 'score': 0.23}]
chr4 GH04I184761 184761650 184763880 0.69 [{'connected_gene': 'CENPU', 'score': 11.75}, {'connected_gene': 'ACSL1', 'score': 11.6}, {'connected_gene': 'PRIMPOL', 'score': 11.34}, {'connected_gene': 'CASP3', 'score': 11.34}, {'connected_gene': 'PIR41861', 'score': 0.34}, {'connected_gene': 'SLED1', 'score': 0.28}]
chr4 GH04I184667 184667784 184670020 0.86 [{'connected_gene': 'CENPU', 'score': 15.02}, {'connected_gene': 'ACSL1', 'score': 10.4}, {'connected_gene': 'PRIMPOL', 'score': 8.95}, {'connected_gene': 'IRF2', 'score': 7.43}, {'connected_gene': 'GC04P184696', 'score': 0.31}]
chr4 GH04I184687 184687333 184689483 0.77 [{'connected_gene': 'CENPU', 'score': 55.55}, {'connected_gene': 'PRIMPOL', 'score': 12.17}, {'connected_gene': 'CASP3', 'score': 12.17}, {'connected_gene': 'GC04P184696', 'score': 0.44}]
chr4 GH04I184731 184731709 184735026 2.13 [{'connected_gene': 'CENPU', 'score': 602.56}, {'connected_gene': 'PRIMPOL', 'score': 34.81}, {'connected_gene': 'UFSP2', 'score': 12.21}, {'connected_gene': 'SNX25', 'score': 10.37}, {'connected_gene': 'CFAP97', 'score': 10.18}, {'connected_gene': 'GC04P184696', 'score': 0.28}]
chr4 GH04I184652 184652001 184652200 0.2 [{'connected_gene': 'CENPU', 'score': 14.07}, {'connected_gene': 'PRIMPOL', 'score': 0.77}, {'connected_gene': 'GC04P184696', 'score': 0.26}]
chr4 GH04I184680 184680374 184681457 0.2 [{'connected_gene': 'CENPU', 'score': 10.33}, {'connected_gene': 'GC04P184696', 'score': 0.37}, {'connected_gene': 'PRIMPOL', 'score': 0.29}]
chr4 GH04I184653 184653052 184654885 0.63 [{'connected_gene': 'CENPU', 'score': 31.13}, {'connected_gene': 'PRIMPOL', 'score': 9.46}, {'connected_gene': 'GC04P184696', 'score': 0.26}]
chr4 GH04I184666 184666302 184667545 0.66 [{'connected_gene': 'CENPU', 'score': 28.69}, {'connected_gene': 'PRIMPOL', 'score': 8.65}, {'connected_gene': 'GC04P184696', 'score': 0.31}]
chr4 GH04I184596 184596168 184597312 0.69 [{'connected_gene': 'CENPU', 'score': 6.0}, {'connected_gene': 'PIR42069', 'score': 0.37}, {'connected_gene': 'LINC02365', 'score': 0.31}, {'connected_gene': 'LOC100129245', 'score': 0.28}]
chr4 GH04I184727 184727818 184730363 0.56 [{'connected_gene': 'CENPU', 'score': 38.76}, {'connected_gene': 'GC04P184696', 'score': 0.29}]
chr4 GH04I184854 184854246 184856848 1.44 [{'connected_gene': 'MIR3945HG', 'score': 550.77}, {'connected_gene': 'ACSL1', 'score': 19.22}, {'connected_gene': 'CENPU', 'score': 5.66}, {'connected_gene': 'IRF2', 'score': 4.27}, {'connected_gene': 'MIR3945', 'score': 0.77}]
chr4 GH04I184799 184799420 184801692 0.31 [{'connected_gene': 'SLED1', 'score': 550.77}, {'connected_gene': 'ACSL1', 'score': 11.23}, {'connected_gene': 'PRIMPOL', 'score': 9.66}, {'connected_gene': 'CASP3', 'score': 9.66}, {'connected_gene': 'CENPU', 'score': 4.95}, {'connected_gene': 'ENSG00000251139', 'score': 0.39}]
chr4 GH04I184796 184796123 184798298 0.43 [{'connected_gene': 'SLED1', 'score': 550.77}, {'connected_gene': 'ACSL1', 'score': 11.73}, {'connected_gene': 'PRIMPOL', 'score': 9.9}, {'connected_gene': 'CASP3', 'score': 9.9}, {'connected_gene': 'MIR3945HG', 'score': 5.86}, {'connected_gene': 'CENPU', 'score': 5.02}, {'connected_gene': 'PIR41861', 'score': 0.23}]
chr4 GH04I184280 184280197 184284698 1.59 [{'connected_gene': 'MYL12BP2', 'score': 14.28}, {'connected_gene': 'ENSG00000251878', 'score': 11.38}, {'connected_gene': 'LINC02363', 'score': 10.01}, {'connected_gene': 'ENPP6', 'score': 4.87}, {'connected_gene': 'CENPU', 'score': 4.57}, {'connected_gene': 'CASP3', 'score': 1.61}, {'connected_gene': 'IRF2', 'score': 1.49}, {'connected_gene': 'RN7SL28P', 'score': 0.77}, {'connected_gene': 'LOC105377582', 'score': 0.39}]
chr4 GH04I184765 184765540 184769176 0.46 [{'connected_gene': 'ACSL1', 'score': 11.62}, {'connected_gene': 'CENPU', 'score': 11.5}, {'connected_gene': 'PRIMPOL', 'score': 10.65}, {'connected_gene': 'CASP3', 'score': 10.65}, {'connected_gene': 'PIR41861', 'score': 0.34}, {'connected_gene': 'SLED1', 'score': 0.29}]
chr4 GH04I184750 184750865 184752061 0.71 [{'connected_gene': 'ACSL1', 'score': 12.63}, {'connected_gene': 'CENPU', 'score': 11.98}, {'connected_gene': 'PRIMPOL', 'score': 10.43}, {'connected_gene': 'CASP3', 'score': 10.43}, {'connected_gene': 'PIR41861', 'score': 0.44}, {'connected_gene': 'SLED1', 'score': 0.25}]
chr4 GH04I184802 184802298 184802993 0.51 [{'connected_gene': 'ACSL1', 'score': 11.5}, {'connected_gene': 'MIR3945HG', 'score': 6.2}, {'connected_gene': 'CENPU', 'score': 4.97}, {'connected_gene': 'SLED1', 'score': 0.77}, {'connected_gene': 'ENSG00000251139', 'score': 0.39}]
chr4 GH04I184794 184794712 184795799 0.51 [{'connected_gene': 'ACSL1', 'score': 11.72}, {'connected_gene': 'PRIMPOL', 'score': 9.9}, {'connected_gene': 'CASP3', 'score': 9.9}, {'connected_gene': 'CENPU', 'score': 4.97}, {'connected_gene': 'SLED1', 'score': 0.77}, {'connected_gene': 'PIR41861', 'score': 0.23}]
chr4 GH04I184824 184824216 184827192 2.1 [{'connected_gene': 'ACSL1', 'score': 557.98}, {'connected_gene': 'LOC105377587', 'score': 550.77}, {'connected_gene': 'MIR3945HG', 'score': 6.5}, {'connected_gene': 'CENPU', 'score': 5.09}, {'connected_gene': 'ENSG00000251139', 'score': 0.39}]
chr4 GH04I184684 184684143 184685406 1.43 [{'connected_gene': 'PRIMPOL', 'score': 28.21}, {'connected_gene': 'CASP3', 'score': 14.76}, {'connected_gene': 'CENPU', 'score': 8.73}, {'connected_gene': 'IRF2', 'score': 4.21}, {'connected_gene': 'GC04P184696', 'score': 0.39}]
chr4 GH04I184644 184644792 184651047 2.22 [{'connected_gene': 'PRIMPOL', 'score': 558.42}, {'connected_gene': 'CASP3', 'score': 550.77}, {'connected_gene': 'CENPU', 'score': 25.16}, {'connected_gene': 'ACSL1', 'score': 10.63}, {'connected_gene': 'IRF2', 'score': 10.48}, {'connected_gene': 'LINC02365', 'score': 0.34}]
chr4 GH04I184692 184692469 184692746 0.22 [{'connected_gene': 'PRIMPOL', 'score': 20.38}, {'connected_gene': 'CENPU', 'score': 15.65}, {'connected_gene': 'CASP3', 'score': 12.11}, {'connected_gene': 'GC04P184696', 'score': 0.77}]
chr4 GH04I184598 184598906 184600476 0.67 [{'connected_gene': 'PRIMPOL', 'score': 21.92}, {'connected_gene': 'CFAP97', 'score': 14.19}, {'connected_gene': 'TRAPPC11', 'score': 13.47}, {'connected_gene': 'RNU6-1053P', 'score': 13.18}, {'connected_gene': 'CENPU', 'score': 5.12}, {'connected_gene': 'PIR42069', 'score': 0.39}, {'connected_gene': 'LINC02365', 'score': 0.31}, {'connected_gene': 'LOC100129245', 'score': 0.28}]
chr4 GH04I184624 184624550 184628297 0.89 [{'connected_gene': 'LINC02365', 'score': 550.77}, {'connected_gene': 'CASP3', 'score': 20.9}, {'connected_gene': 'PRIMPOL', 'score': 11.4}, {'connected_gene': 'CENPU', 'score': 9.09}]
chr4 GH04I184695 184695647 184695796 0.2 [{'connected_gene': 'GC04P184696', 'score': 550.77}, {'connected_gene': 'CENPU', 'score': 25.44}, {'connected_gene': 'PRIMPOL', 'score': 0.25}]
chr4 GH04I184791 184791652 184793944 1.02 [{'connected_gene': 'ENSG00000251139', 'score': 13.06}, {'connected_gene': 'ACSL1', 'score': 13.01}, {'connected_gene': 'CASP3', 'score': 9.9}, {'connected_gene': 'PRIMPOL', 'score': 9.9}, {'connected_gene': 'MIR3945HG', 'score': 6.21}, {'connected_gene': 'CENPU', 'score': 6.09}, {'connected_gene': 'SLED1', 'score': 0.44}, {'connected_gene': 'PIR41861', 'score': 0.23}]

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