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
ENST00000255194 [[77296348, 77298879], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77335098], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412058], [77423853, 77423984], [77424944, 77425131], [77436966, 77437143], [77452081, 77452191], [77458642, 77458775], [77461433, 77461496], [77471449, 77471521], [77471607, 77471662], [77473162, 77473260], [77477330, 77477486], [77511878, 77512061], [77521365, 77521432], [77523195, 77523356], [77523967, 77524063], [77536685, 77536760], [77563343, 77563419], [77590275, 77590579]] [[77298725, 77298879], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77335098], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412058], [77423853, 77423984], [77424944, 77425131], [77436966, 77437143], [77452081, 77452191], [77458642, 77458775], [77461433, 77461496], [77471449, 77471521], [77471607, 77471662], [77473162, 77473260], [77477330, 77477486], [77511878, 77512061], [77521365, 77521432], [77523195, 77523356], [77523967, 77524063], [77536685, 77536760], [77563343, 77563419], [77590275, 77590403]]
ENST00000519295 [[77298149, 77298879], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77335098], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412058], [77423853, 77423984], [77424944, 77425131], [77436966, 77437143], [77452081, 77452191], [77458642, 77458775], [77461433, 77461496], [77471449, 77471521], [77471607, 77471662], [77473162, 77473260], [77477330, 77477486], [77511878, 77512061], [77521365, 77521432], [77523195, 77523356], [77523967, 77524063], [77536685, 77536760], [77563343, 77563419], [77590263, 77590516]] [[77298725, 77298879], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77335098], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412058], [77423853, 77423984], [77424944, 77425131], [77436966, 77437143], [77452081, 77452191], [77458642, 77458775], [77461433, 77461496], [77471449, 77471521], [77471607, 77471662], [77473162, 77473260], [77477330, 77477486], [77511878, 77512061], [77521365, 77521432], [77523195, 77523356], [77523967, 77524063], [77536685, 77536760], [77563343, 77563400]]
ENST00000522901 [[77298161, 77298901], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77334974]] [[77298867, 77298901], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77334974]]
ENST00000523204 [[77316531, 77316613], [77330184, 77330269], [77334866, 77335098], [77338697, 77339074]] None
ENST00000520122 [[77298818, 77298879], [77311233, 77311697]] None
ENST00000519888 [[77383319, 77383491], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409594]] None
ENST00000517940 [[77384804, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412011]] None
ENST00000517561 [[77417545, 77417697], [77423853, 77423984], [77424944, 77425131], [77436966, 77436994]] None
NM_001271769 [[77298149, 77298879], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77335098], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412058], [77423853, 77423984], [77424944, 77425131], [77436966, 77437143], [77452081, 77452191], [77458642, 77458775], [77461433, 77461496], [77471449, 77471521], [77471607, 77471662], [77473162, 77473260], [77477330, 77477486], [77511878, 77512061], [77521365, 77521432], [77523195, 77523356], [77523967, 77524063], [77536685, 77536760], [77563343, 77563419], [77590263, 77590579]] [[77298725, 77298879], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77335098], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412058], [77423853, 77423984], [77424944, 77425131], [77436966, 77437143], [77452081, 77452191], [77458642, 77458775], [77461433, 77461496], [77471449, 77471521], [77471607, 77471662], [77473162, 77473260], [77477330, 77477486], [77511878, 77512061], [77521365, 77521432], [77523195, 77523356], [77523967, 77524063], [77536685, 77536760], [77563343, 77563400]]
NM_003664 [[77298149, 77298879], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77335098], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412058], [77423853, 77423984], [77424944, 77425131], [77436966, 77437143], [77452081, 77452191], [77458642, 77458775], [77461433, 77461496], [77471449, 77471521], [77471607, 77471662], [77473162, 77473260], [77477330, 77477486], [77511878, 77512061], [77521365, 77521432], [77523195, 77523356], [77523967, 77524063], [77536685, 77536760], [77563343, 77563419], [77590275, 77590579]] [[77298725, 77298879], [77311233, 77311372], [77316515, 77316613], [77330184, 77330269], [77334866, 77335098], [77385216, 77385323], [77396776, 77396849], [77406030, 77406178], [77409575, 77409747], [77411949, 77412058], [77423853, 77423984], [77424944, 77425131], [77436966, 77437143], [77452081, 77452191], [77458642, 77458775], [77461433, 77461496], [77471449, 77471521], [77471607, 77471662], [77473162, 77473260], [77477330, 77477486], [77511878, 77512061], [77521365, 77521432], [77523195, 77523356], [77523967, 77524063], [77536685, 77536760], [77563343, 77563419], [77590275, 77590403]]
Promoter
Chrom Start End Description
chr5 77409668 77409707 CAGE_peak_4_at_AP3B1_5end
chr5 77409743 77409752 CAGE_peak_6_at_AP3B1_5end
chr5 77590445 77590462 CAGE_peak_2_at_AP3B1_5end
chr5 77590466 77590475 CAGE_peak_3_at_AP3B1_5end
chr5 77590480 77590557 CAGE_peak_1_at_AP3B1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I078539 78539601 78542443 1.18 [{'connected_gene': 'SCAMP1', 'score': 5.26}, {'connected_gene': 'AP3B1', 'score': 2.65}, {'connected_gene': 'ARSB', 'score': 1.71}, {'connected_gene': 'PIR51536', 'score': 0.29}, {'connected_gene': 'GC05M078588', 'score': 0.25}, {'connected_gene': 'LHFPL2', 'score': 0.07}]
chr5 GH05I078016 78016869 78017539 1.02 [{'connected_gene': 'SCAMP1', 'score': 16.98}, {'connected_gene': 'TRQ-TTG7-1', 'score': 0.44}, {'connected_gene': 'ENSG00000253572', 'score': 0.19}, {'connected_gene': 'AP3B1', 'score': 0.06}]
chr5 GH05I078293 78293335 78296200 2.33 [{'connected_gene': 'AP3B1', 'score': 556.88}, {'connected_gene': 'JMY', 'score': 18.61}, {'connected_gene': 'RPS3AP20', 'score': 10.25}, {'connected_gene': 'RPL7P23', 'score': 9.68}, {'connected_gene': 'ENSG00000251605', 'score': 0.39}]
chr5 GH05I078537 78537801 78538242 1.29 [{'connected_gene': 'AP3B1', 'score': 1.47}, {'connected_gene': 'PIR51536', 'score': 0.31}, {'connected_gene': 'GC05M078588', 'score': 0.23}, {'connected_gene': 'LHFPL2', 'score': 0.07}]
chr5 GH05I078243 78243395 78244406 0.46 [{'connected_gene': 'AP3B1', 'score': 5.22}, {'connected_gene': 'GC05M078230', 'score': 0.39}, {'connected_gene': 'GC05P078271', 'score': 0.31}, {'connected_gene': 'GC05M078176', 'score': 0.26}]
chr5 GH05I078278 78278627 78278686 0.5 [{'connected_gene': 'AP3B1', 'score': 550.37}, {'connected_gene': 'GC05P078271', 'score': 0.44}, {'connected_gene': 'GC05M078176', 'score': 0.44}]
chr5 GH05I078268 78268001 78269000 0.52 [{'connected_gene': 'AP3B1', 'score': 6.03}, {'connected_gene': 'GC05P078271', 'score': 0.77}, {'connected_gene': 'GC05M078176', 'score': 0.37}, {'connected_gene': 'GC05M078230', 'score': 0.28}]
chr5 GH05I078482 78482991 78485814 1.62 [{'connected_gene': 'SCAMP1-AS1', 'score': 8.33}, {'connected_gene': 'SCAMP1', 'score': 8.03}, {'connected_gene': 'AP3B1', 'score': 2.94}, {'connected_gene': 'PIR51536', 'score': 0.31}, {'connected_gene': 'LHFPL2', 'score': 0.06}]
chr5 GH05I078517 78517801 78520523 1.61 [{'connected_gene': 'SCAMP1-AS1', 'score': 6.9}, {'connected_gene': 'LHFPL2', 'score': 6.34}, {'connected_gene': 'SCAMP1', 'score': 4.89}, {'connected_gene': 'AP3B1', 'score': 2.07}, {'connected_gene': 'ARSB', 'score': 1.62}, {'connected_gene': 'PIR51536', 'score': 0.44}, {'connected_gene': 'GC05M078588', 'score': 0.19}]
chr5 GH05I078513 78513483 78513884 0.37 [{'connected_gene': 'SCAMP1-AS1', 'score': 7.65}, {'connected_gene': 'LHFPL2', 'score': 6.64}, {'connected_gene': 'AP3B1', 'score': 2.41}, {'connected_gene': 'ARSB', 'score': 1.57}, {'connected_gene': 'PIR51536', 'score': 0.77}, {'connected_gene': 'GC05M078588', 'score': 0.18}]
chr5 GH05I078514 78514355 78516853 0.96 [{'connected_gene': 'SCAMP1-AS1', 'score': 7.39}, {'connected_gene': 'LHFPL2', 'score': 4.59}, {'connected_gene': 'AP3B1', 'score': 1.2}, {'connected_gene': 'PIR51536', 'score': 0.44}, {'connected_gene': 'GC05M078588', 'score': 0.19}]
chr5 GH05I077645 77645011 77645571 1.56 [{'connected_gene': 'RPL7P23', 'score': 27.18}, {'connected_gene': 'SCAMP1', 'score': 16.95}, {'connected_gene': 'WDR41', 'score': 11.88}, {'connected_gene': 'AP3B1', 'score': 11.69}, {'connected_gene': 'AGGF1', 'score': 10.02}, {'connected_gene': 'OTP', 'score': 0.44}, {'connected_gene': 'GC05M077675', 'score': 0.29}]
chr5 GH05I078050 78050930 78051430 1.08 [{'connected_gene': 'RPL7P23', 'score': 12.94}, {'connected_gene': 'LOC100422441', 'score': 0.44}, {'connected_gene': 'GC05P078068', 'score': 0.37}, {'connected_gene': 'AP3B1', 'score': 0.07}]
chr5 GH05I078533 78533402 78535680 1.43 [{'connected_gene': 'LHFPL2', 'score': 9.9}, {'connected_gene': 'SCAMP1', 'score': 5.62}, {'connected_gene': 'SCAMP1-AS1', 'score': 4.71}, {'connected_gene': 'AP3B1', 'score': 2.57}, {'connected_gene': 'ARSB', 'score': 1.27}, {'connected_gene': 'PIR51536', 'score': 0.34}, {'connected_gene': 'GC05M078588', 'score': 0.22}]
chr5 GH05I078531 78531711 78531781 0.67 [{'connected_gene': 'LHFPL2', 'score': 9.9}, {'connected_gene': 'AP3B1', 'score': 2.61}, {'connected_gene': 'ARSB', 'score': 1.64}, {'connected_gene': 'PIR51536', 'score': 0.34}, {'connected_gene': 'GC05M078588', 'score': 0.22}]
chr5 GH05I078522 78522419 78531399 1.72 [{'connected_gene': 'LHFPL2', 'score': 10.0}, {'connected_gene': 'SCAMP1-AS1', 'score': 5.74}, {'connected_gene': 'SCAMP1', 'score': 5.47}, {'connected_gene': 'AP3B1', 'score': 2.88}, {'connected_gene': 'ARSB', 'score': 1.68}, {'connected_gene': 'PIR51536', 'score': 0.37}, {'connected_gene': 'GC05M078588', 'score': 0.21}]
chr5 GH05I078222 78222137 78222406 0.78 [{'connected_gene': 'ATP6V1G1P6', 'score': 550.77}, {'connected_gene': 'AP3B1', 'score': 6.95}, {'connected_gene': 'GC05M078230', 'score': 0.44}, {'connected_gene': 'GC05M078176', 'score': 0.21}]
chr5 GH05I078211 78211084 78211458 0.63 [{'connected_gene': 'ATP6V1G1P6', 'score': 0.39}, {'connected_gene': 'GC05M078176', 'score': 0.19}, {'connected_gene': 'GC05M078125', 'score': 0.18}, {'connected_gene': 'AP3B1', 'score': 0.18}]
chr5 GH05I078218 78218460 78218792 0.4 [{'connected_gene': 'ATP6V1G1P6', 'score': 0.77}, {'connected_gene': 'GC05M078176', 'score': 0.2}, {'connected_gene': 'AP3B1', 'score': 0.18}, {'connected_gene': 'GC05M078125', 'score': 0.18}]
chr5 GH05I078002 78002077 78009570 0.81 [{'connected_gene': 'TRQ-TTG7-1', 'score': 0.37}, {'connected_gene': 'ENSG00000253572', 'score': 0.22}, {'connected_gene': 'AP3B1', 'score': 0.06}]
chr5 GH05I078009 78009898 78010800 0.79 [{'connected_gene': 'TRQ-TTG7-1', 'score': 0.39}, {'connected_gene': 'ENSG00000253572', 'score': 0.21}, {'connected_gene': 'AP3B1', 'score': 0.06}]
chr5 GH05I078019 78019014 78019237 0.4 [{'connected_gene': 'TRQ-TTG7-1', 'score': 0.77}, {'connected_gene': 'ENSG00000253572', 'score': 0.19}, {'connected_gene': 'AP3B1', 'score': 0.06}]
chr5 GH05I078032 78032472 78032689 0.4 [{'connected_gene': 'TRQ-TTG7-1', 'score': 0.44}, {'connected_gene': 'LOC100422441', 'score': 0.39}, {'connected_gene': 'AP3B1', 'score': 0.07}]
chr5 GH05I078286 78286207 78286432 0.28 [{'connected_gene': 'GC05M078176', 'score': 550.77}, {'connected_gene': 'AP3B1', 'score': 4.05}]
chr5 GH05I078076 78076497 78076606 0.56 [{'connected_gene': 'GC05P078068', 'score': 0.44}, {'connected_gene': 'GC05P078103', 'score': 0.31}, {'connected_gene': 'AP3B1', 'score': 0.08}]
chr5 GH05I078287 78287493 78288742 0.76 [{'connected_gene': 'GC05M078176', 'score': 550.77}, {'connected_gene': 'AP3B1', 'score': 6.57}]
chr5 GH05I078108 78108079 78110681 0.72 [{'connected_gene': 'GC05P078103', 'score': 0.44}, {'connected_gene': 'GC05M078125', 'score': 0.31}, {'connected_gene': 'AP3B1', 'score': 0.09}]
chr5 GH05I078117 78117133 78117194 0.22 [{'connected_gene': 'GC05P078103', 'score': 0.39}, {'connected_gene': 'GC05M078125', 'score': 0.37}, {'connected_gene': 'AP3B1', 'score': 0.1}]
chr5 GH05I078129 78129450 78129957 0.74 [{'connected_gene': 'GC05M078125', 'score': 0.44}, {'connected_gene': 'GC05P078103', 'score': 0.31}, {'connected_gene': 'AP3B1', 'score': 0.1}]
chr5 GH05I078103 78103228 78103497 0.66 [{'connected_gene': 'GC05P078103', 'score': 550.77}, {'connected_gene': 'GC05P078068', 'score': 0.29}, {'connected_gene': 'AP3B1', 'score': 0.08}]
chr5 GH05I078113 78113707 78114296 0.54 [{'connected_gene': 'GC05P078103', 'score': 0.39}, {'connected_gene': 'GC05M078125', 'score': 0.34}, {'connected_gene': 'AP3B1', 'score': 0.09}]
chr5 GH05I078245 78245237 78245366 0.63 [{'connected_gene': 'GC05M078230', 'score': 0.39}, {'connected_gene': 'GC05P078271', 'score': 0.31}, {'connected_gene': 'GC05M078176', 'score': 0.26}, {'connected_gene': 'AP3B1', 'score': 0.25}]
chr5 GH05I078285 78285317 78285624 0.38 [{'connected_gene': 'GC05M078176', 'score': 550.77}, {'connected_gene': 'AP3B1', 'score': 9.57}, {'connected_gene': 'GC05P078271', 'score': 0.39}]
chr5 GH05I078112 78112821 78113099 0.4 [{'connected_gene': 'GC05P078103', 'score': 0.44}, {'connected_gene': 'GC05M078125', 'score': 0.34}, {'connected_gene': 'AP3B1', 'score': 0.09}]
chr5 GH05I078503 78503802 78512253 1.7 [{'connected_gene': 'PIR51536', 'score': 550.77}, {'connected_gene': 'TBCA', 'score': 10.5}, {'connected_gene': 'LHFPL2', 'score': 9.34}, {'connected_gene': 'SCAMP1-AS1', 'score': 8.71}, {'connected_gene': 'SCAMP1', 'score': 7.18}, {'connected_gene': 'ARSB', 'score': 2.98}, {'connected_gene': 'AP3B1', 'score': 2.85}]
chr5 GH05I078064 78064317 78064609 0.4 [{'connected_gene': 'GC05P078068', 'score': 0.77}, {'connected_gene': 'LOC100422441', 'score': 0.34}, {'connected_gene': 'AP3B1', 'score': 0.07}]
chr5 GH05I078062 78062690 78063042 0.66 [{'connected_gene': 'GC05P078068', 'score': 0.44}, {'connected_gene': 'LOC100422441', 'score': 0.37}, {'connected_gene': 'AP3B1', 'score': 0.07}]

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