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
ENST00000434178 [[127407908, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127542028]] [[127411040, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540661]]
ENST00000265052 [[127407910, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127541701]] [[127411040, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127541161]]
ENST00000398104 [[127407910, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541926, 127542051]] [[127411040, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540661]]
ENST00000453507 [[127410959, 127411166], [127413817, 127414033], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127541194]] [[127411040, 127411166], [127413817, 127414033], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127541161]]
ENST00000479967 [[127434316, 127434773], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541926, 127542028]] None
ENST00000494830 [[127500631, 127500738], [127540536, 127540681], [127540828, 127540986]] [[127500631, 127500738], [127540536, 127540661]]
ENST00000496306 [[127410953, 127411166], [127413817, 127414033], [127429418, 127429508], [127434695, 127434773], [127439895, 127440014]] [[127411040, 127411166], [127413817, 127414033], [127429418, 127429508], [127434695, 127434773], [127439895, 127440014]]
ENST00000476682 [[127410954, 127411166], [127413817, 127414033], [127429418, 127432989]] None
ENST00000487473 [[127410959, 127411166], [127429418, 127429508], [127439895, 127440006], [127441272, 127441413]] [[127411040, 127411166], [127429418, 127429508], [127439895, 127440006], [127441272, 127441413]]
ENST00000398101 [[127410959, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127454547, 127455200]] [[127411040, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127454547, 127454701]]
ENST00000484451 [[127410981, 127411166], [127413817, 127414033], [127439895, 127440006], [127441272, 127441413]] [[127411040, 127411166], [127413817, 127414033], [127439895, 127440006], [127441272, 127441413]]
ENST00000465597 [[127429462, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127518262, 127518307]] None
ENST00000493611 [[127439918, 127440006], [127441272, 127441409], [127500631, 127500738], [127502627, 127502851]] [[127439918, 127440006], [127441272, 127441409], [127500631, 127500674]]
ENST00000476654 [[127441392, 127441409], [127500631, 127500738], [127510042, 127510104]] None
NM_007283 [[127407904, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127541725]] [[127411040, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127541161]]
NM_001256585 [[127407904, 127411166], [127413817, 127414033], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127541725]] [[127411040, 127411166], [127413817, 127414033], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541151, 127541161]]
NM_001003794 [[127407904, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540681], [127541926, 127542093]] [[127411040, 127411166], [127413817, 127414033], [127429418, 127429508], [127439895, 127440006], [127441272, 127441409], [127500631, 127500738], [127540536, 127540661]]
Promoter
Chrom Start End Description
chr3 127409193 127409206 CAGE_peak_11_at_MGLL_5end
chr3 127441406 127441423 CAGE_peak_26_at_MGLL_5end
chr3 127441426 127441438 CAGE_peak_37_at_MGLL_5end
chr3 127441452 127441489 CAGE_peak_20_at_MGLL_5end
chr3 127441501 127441504 CAGE_peak_59_at_MGLL_5end
chr3 127441545 127441550 CAGE_peak_58_at_MGLL_5end
chr3 127454684 127454702 CAGE_peak_21_at_MGLL_5end
chr3 127454947 127454961 CAGE_peak_16_at_MGLL_5end
chr3 127454965 127454984 CAGE_peak_27_at_MGLL_5end
chr3 127455203 127455223 CAGE_peak_14_at_MGLL_5end
chr3 127455228 127455256 CAGE_peak_15_at_MGLL_5end
chr3 127541202 127541212 CAGE_peak_13_at_MGLL_5end
chr3 127541298 127541378 CAGE_peak_2_at_MGLL_5end
chr3 127541401 127541426 CAGE_peak_5_at_MGLL_5end
chr3 127541427 127541454 CAGE_peak_7_at_MGLL_5end
chr3 127541515 127541547 CAGE_peak_4_at_MGLL_5end
chr3 127541679 127541702 CAGE_peak_8_at_MGLL_5end
chr3 127541705 127541730 CAGE_peak_10_at_MGLL_5end
chr3 127541732 127541764 CAGE_peak_9_at_MGLL_5end
chr3 127542007 127542012 CAGE_peak_12_at_MGLL_5end
chr3 127542021 127542050 CAGE_peak_1_at_MGLL_5end
chr3 127542051 127542098 CAGE_peak_3_at_MGLL_5end
chr3 127542266 127542272 CAGE_peak_6_at_MGLL_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I128242 128242816 128243599 0.57 [{'connected_gene': 'RUVBL1', 'score': 14.14}, {'connected_gene': 'RAB7A', 'score': 5.03}, {'connected_gene': 'MGLL', 'score': 2.23}, {'connected_gene': 'DNAJB8', 'score': 1.26}, {'connected_gene': 'GC03P128260', 'score': 0.37}, {'connected_gene': 'GC03P128188', 'score': 0.22}, {'connected_gene': 'EEFSEC', 'score': 0.17}]
chr3 GH03I127784 127784497 127789493 1.05 [{'connected_gene': 'ABTB1', 'score': 11.81}, {'connected_gene': 'MGLL', 'score': 0.28}, {'connected_gene': 'GC03M127760', 'score': 0.25}]
chr3 GH03I127702 127702849 127703786 0.2 [{'connected_gene': 'ABTB1', 'score': 0.29}, {'connected_gene': 'MGLL', 'score': 0.13}]
chr3 GH03I127676 127676138 127676319 0.99 [{'connected_gene': 'ABTB1', 'score': 550.77}, {'connected_gene': 'MGLL', 'score': 0.11}]
chr3 GH03I127789 127789988 127794036 1.23 [{'connected_gene': 'ABTB1', 'score': 11.8}, {'connected_gene': 'MGLL', 'score': 0.29}, {'connected_gene': 'GC03M127760', 'score': 0.26}]
chr3 GH03I127737 127737846 127739800 0.99 [{'connected_gene': 'PODXL2', 'score': 11.17}, {'connected_gene': 'ABTB1', 'score': 0.2}, {'connected_gene': 'MGLL', 'score': 0.18}]
chr3 GH03I127740 127740566 127741638 0.31 [{'connected_gene': 'PODXL2', 'score': 11.16}, {'connected_gene': 'ABTB1', 'score': 0.2}, {'connected_gene': 'MGLL', 'score': 0.18}]
chr3 GH03I127717 127717025 127717937 0.31 [{'connected_gene': 'PODXL2', 'score': 10.8}, {'connected_gene': 'ABTB1', 'score': 0.26}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3 GH03I127718 127718018 127718167 0.51 [{'connected_gene': 'PODXL2', 'score': 10.8}, {'connected_gene': 'ABTB1', 'score': 0.25}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3 GH03I127683 127683401 127684067 0.76 [{'connected_gene': 'PODXL2', 'score': 11.67}, {'connected_gene': 'MCM2', 'score': 10.58}, {'connected_gene': 'TPRA1', 'score': 10.58}, {'connected_gene': 'ABTB1', 'score': 4.72}, {'connected_gene': 'MGLL', 'score': 0.12}]
chr3 GH03I127764 127764972 127766475 0.63 [{'connected_gene': 'PODXL2', 'score': 10.4}, {'connected_gene': 'MCM2', 'score': 10.27}, {'connected_gene': 'TPRA1', 'score': 10.27}, {'connected_gene': 'MGLL', 'score': 8.65}, {'connected_gene': 'GC03M127760', 'score': 0.2}, {'connected_gene': 'ABTB1', 'score': 0.16}]
chr3 GH03I127688 127688107 127692079 1.06 [{'connected_gene': 'PODXL2', 'score': 20.97}, {'connected_gene': 'TPRA1', 'score': 9.31}, {'connected_gene': 'ABTB1', 'score': 4.84}, {'connected_gene': 'MGLL', 'score': 0.12}]
chr3 GH03I127686 127686150 127687040 0.52 [{'connected_gene': 'PODXL2', 'score': 18.93}, {'connected_gene': 'MGLL', 'score': 1.33}, {'connected_gene': 'ABTB1', 'score': 0.39}]
chr3 GH03I127753 127753433 127756579 1.51 [{'connected_gene': 'PODXL2', 'score': 5.05}, {'connected_gene': 'MGLL', 'score': 4.87}, {'connected_gene': 'TPRA1', 'score': 3.36}, {'connected_gene': 'ABTB1', 'score': 0.18}]
chr3 GH03I127766 127766999 127779089 1.57 [{'connected_gene': 'MCM2', 'score': 15.21}, {'connected_gene': 'TPRA1', 'score': 13.82}, {'connected_gene': 'MGLL', 'score': 11.36}, {'connected_gene': 'ABTB1', 'score': 11.2}, {'connected_gene': 'PODXL2', 'score': 10.84}, {'connected_gene': 'GC03M127760', 'score': 0.21}]
chr3 GH03I127757 127757654 127758721 0.31 [{'connected_gene': 'KBTBD12', 'score': 4.88}, {'connected_gene': 'MGLL', 'score': 0.2}, {'connected_gene': 'ABTB1', 'score': 0.17}]
chr3 GH03I127734 127733158 127733307 0.97 [{'connected_gene': 'TPRA1', 'score': 14.44}, {'connected_gene': 'ABTB1', 'score': 0.21}, {'connected_gene': 'MGLL', 'score': 0.16}]
chr3 GH03I127696 127696002 127702538 1.3 [{'connected_gene': 'TPRA1', 'score': 17.51}, {'connected_gene': 'ABTB1', 'score': 5.33}, {'connected_gene': 'MGLL', 'score': 0.13}]
chr3 GH03I127713 127713601 127714600 0.63 [{'connected_gene': 'TPRA1', 'score': 5.2}, {'connected_gene': 'ABTB1', 'score': 0.26}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3 GH03I127731 127731502 127733000 1.2 [{'connected_gene': 'TPRA1', 'score': 18.15}, {'connected_gene': 'ABTB1', 'score': 0.22}, {'connected_gene': 'MGLL', 'score': 0.16}]
chr3 GH03I127677 127677041 127679695 0.56 [{'connected_gene': 'TPRA1', 'score': 10.31}, {'connected_gene': 'PODXL2', 'score': 10.29}, {'connected_gene': 'ABTB1', 'score': 9.36}, {'connected_gene': 'MGLL', 'score': 0.11}]
chr3 GH03I127719 127719838 127726251 0.57 [{'connected_gene': 'TPRA1', 'score': 19.36}, {'connected_gene': 'PODXL2', 'score': 10.79}, {'connected_gene': 'EEFSEC', 'score': 10.32}, {'connected_gene': 'ABTB1', 'score': 0.23}, {'connected_gene': 'MGLL', 'score': 0.15}]
chr3 GH03I127779 127779459 127782825 1.14 [{'connected_gene': 'TPRA1', 'score': 20.68}, {'connected_gene': 'SEC61A1', 'score': 10.4}, {'connected_gene': 'MGLL', 'score': 0.26}, {'connected_gene': 'GC03M127760', 'score': 0.23}, {'connected_gene': 'ABTB1', 'score': 0.14}]
chr3 GH03I127743 127743601 127752600 1.63 [{'connected_gene': 'TPRA1', 'score': 11.58}, {'connected_gene': 'MGLL', 'score': 5.79}, {'connected_gene': 'ABTB1', 'score': 0.18}]
chr3 GH03I127733 127733657 127737799 1.43 [{'connected_gene': 'TPRA1', 'score': 10.22}, {'connected_gene': 'MGLL', 'score': 7.91}, {'connected_gene': 'ABTB1', 'score': 0.21}]
chr3 GH03I127729 127729109 127730999 1.34 [{'connected_gene': 'TPRA1', 'score': 9.53}, {'connected_gene': 'MGLL', 'score': 3.95}, {'connected_gene': 'ABTB1', 'score': 0.22}]
chr3 GH03I127813 127813876 127824143 2.66 [{'connected_gene': 'MGLL', 'score': 554.56}, {'connected_gene': 'RUVBL1', 'score': 10.78}, {'connected_gene': 'TPRA1', 'score': 1.46}, {'connected_gene': 'KBTBD12', 'score': 1.45}, {'connected_gene': 'GC03M127760', 'score': 0.37}, {'connected_gene': 'ABTB1', 'score': 0.11}]
chr3 GH03I127785 127784352 127784407 0.51 [{'connected_gene': 'MGLL', 'score': 0.28}, {'connected_gene': 'GC03M127760', 'score': 0.25}, {'connected_gene': 'ABTB1', 'score': 0.14}]
chr3 GH03I127808 127808052 127809118 0.56 [{'connected_gene': 'MGLL', 'score': 0.39}, {'connected_gene': 'GC03M127760', 'score': 0.31}, {'connected_gene': 'ABTB1', 'score': 0.12}]
chr3 GH03I127798 127798180 127801351 0.97 [{'connected_gene': 'MGLL', 'score': 0.34}, {'connected_gene': 'GC03M127760', 'score': 0.29}, {'connected_gene': 'ABTB1', 'score': 0.13}]
chr3 GH03I127796 127796020 127797644 0.52 [{'connected_gene': 'MGLL', 'score': 0.31}, {'connected_gene': 'GC03M127760', 'score': 0.28}, {'connected_gene': 'ABTB1', 'score': 0.13}]
chr3 GH03I127759 127759661 127760953 0.2 [{'connected_gene': 'MGLL', 'score': 0.21}, {'connected_gene': 'GC03M127760', 'score': 0.19}, {'connected_gene': 'ABTB1', 'score': 0.17}]
chr3 GH03I127806 127806703 127807673 0.56 [{'connected_gene': 'MGLL', 'score': 0.37}, {'connected_gene': 'GC03M127760', 'score': 0.31}, {'connected_gene': 'ABTB1', 'score': 0.12}]
chr3 GH03I127761 127761039 127764296 1.14 [{'connected_gene': 'MGLL', 'score': 8.66}, {'connected_gene': 'MCM2', 'score': 5.35}, {'connected_gene': 'GC03M127760', 'score': 0.19}, {'connected_gene': 'ABTB1', 'score': 0.17}]
chr3 GH03I127801 127801842 127805840 1.32 [{'connected_gene': 'MGLL', 'score': 2.79}, {'connected_gene': 'TPRA1', 'score': 1.94}, {'connected_gene': 'GC03M127760', 'score': 0.29}, {'connected_gene': 'ABTB1', 'score': 0.12}]
chr3 GH03I127422 127422986 127423366 0.41 [{'connected_gene': 'MGLL', 'score': 5.09}, {'connected_gene': 'LINC02016', 'score': 0.29}, {'connected_gene': 'ENSG00000240562', 'score': 0.2}]
chr3 GH03I127705 127705217 127711944 0.67 [{'connected_gene': 'LINC01471', 'score': 7.43}, {'connected_gene': 'ABTB1', 'score': 5.25}, {'connected_gene': 'TPRA1', 'score': 4.74}, {'connected_gene': 'MGLL', 'score': 0.14}]
chr3 GH03I127825 127825829 127826214 0.37 [{'connected_gene': 'GC03P127827', 'score': 550.77}, {'connected_gene': 'ABTB1', 'score': 11.45}, {'connected_gene': 'MCM2', 'score': 10.49}, {'connected_gene': 'TPRA1', 'score': 10.49}, {'connected_gene': 'MGLL', 'score': 0.77}, {'connected_gene': 'GC03M127760', 'score': 0.44}]

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