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
ENST00000274695 [[20534687, 20534805], [20535581, 20535625], [20546576, 20546754], [20548823, 20548936], [20649523, 20649608], [20739749, 20739846], [20758825, 20758874], [20781375, 20781496], [20846305, 20846409], [20955649, 20955816], [21000457, 21000603], [21065278, 21065459], [21108631, 21108694], [21198251, 21198335], [21201340, 21201505], [21231078, 21232635]] [[20546581, 20546754], [20548823, 20548936], [20649523, 20649608], [20739749, 20739846], [20758825, 20758874], [20781375, 20781496], [20846305, 20846409], [20955649, 20955816], [21000457, 21000603], [21065278, 21065459], [21108631, 21108694], [21198251, 21198335], [21201340, 21201505], [21231078, 21231270]]
ENST00000378624 [[20534687, 20534805], [20535581, 20535625], [20546576, 20546754], [20649523, 20649608], [20739749, 20739846], [20758825, 20758874], [20781375, 20781496], [20846305, 20846409], [20955649, 20955816], [21000457, 21000603], [21065278, 21065459], [21198251, 21198335], [21201340, 21201505], [21231078, 21232635]] [[20546678, 20546754], [20649523, 20649608], [20739749, 20739846], [20758825, 20758874], [20781375, 20781496], [20846305, 20846409], [20955649, 20955816], [21000457, 21000603], [21065278, 21065459], [21198251, 21198335], [21201340, 21201505], [21231078, 21231270]]
ENST00000378610 [[20546571, 20546754], [20548823, 20548936], [20649523, 20649608], [20739749, 20739846], [20758825, 20758874], [20781375, 20781496], [20846305, 20846409], [20955649, 20955816], [21000457, 21000603], [21065278, 21065459], [21108631, 21108694], [21198251, 21198335], [21201340, 21201505], [21231078, 21232635]] [[20546581, 20546754], [20548823, 20548936], [20649523, 20649608], [20739749, 20739846], [20758825, 20758874], [20781375, 20781496], [20846305, 20846409], [20955649, 20955816], [21000457, 21000603], [21065278, 21065459], [21108631, 21108694], [21198251, 21198335], [21201340, 21201505], [21231078, 21231270]]
ENST00000476517 [[21201042, 21201123], [21201340, 21201505], [21231078, 21231672]] None
NM_017774 [[20534687, 20534805], [20535581, 20535625], [20546576, 20546754], [20548823, 20548936], [20649523, 20649608], [20739749, 20739846], [20758825, 20758874], [20781375, 20781496], [20846305, 20846409], [20955649, 20955816], [21000457, 21000603], [21065278, 21065459], [21108631, 21108694], [21198251, 21198335], [21201340, 21201505], [21231078, 21232635]] [[20546581, 20546754], [20548823, 20548936], [20649523, 20649608], [20739749, 20739846], [20758825, 20758874], [20781375, 20781496], [20846305, 20846409], [20955649, 20955816], [21000457, 21000603], [21065278, 21065459], [21108631, 21108694], [21198251, 21198335], [21201340, 21201505], [21231078, 21231270]]
Promoter
Chrom Start End Description
chr6 20534672 20534745 CAGE_peak_1_at_CDKAL1_5end
chr6 20534750 20534765 CAGE_peak_2_at_CDKAL1_5end
chr6 21065386 21065400 CAGE_peak_5_at_CDKAL1_5end
chr6 21200990 21201016 CAGE_peak_3_at_CDKAL1_5end
chr6 21201020 21201041 CAGE_peak_4_at_CDKAL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I020810 20810137 20812243 1.47 [{'connected_gene': 'SOX4', 'score': 11.38}, {'connected_gene': 'CDKAL1', 'score': 10.62}, {'connected_gene': 'GC06P020818', 'score': 0.44}, {'connected_gene': 'GC06M020809', 'score': 0.39}, {'connected_gene': 'ENSG00000233848', 'score': 0.39}]
chr6 GH06I021263 21263530 21265836 1.27 [{'connected_gene': 'CDKAL1', 'score': 14.96}, {'connected_gene': 'SOX4', 'score': 11.18}, {'connected_gene': 'E2F3', 'score': 5.18}, {'connected_gene': 'ENSG00000227089', 'score': 0.16}, {'connected_gene': 'LOC105374966', 'score': 0.13}]
chr6 GH06I020407 20407548 20412279 1.32 [{'connected_gene': 'CDKAL1', 'score': 11.47}, {'connected_gene': 'E2F3', 'score': 0.44}, {'connected_gene': 'RN7SL128P', 'score': 0.39}]
chr6 GH06I020406 20406724 20407047 0.51 [{'connected_gene': 'CDKAL1', 'score': 11.47}, {'connected_gene': 'E2F3', 'score': 0.77}, {'connected_gene': 'RN7SL128P', 'score': 0.37}]
chr6 GH06I020272 20272590 20272739 0.77 [{'connected_gene': 'CDKAL1', 'score': 14.35}, {'connected_gene': 'MBOAT1', 'score': 0.21}, {'connected_gene': 'LOC101928573', 'score': 0.21}, {'connected_gene': 'E2F3', 'score': 0.13}]
chr6 GH06I020540 20540870 20540979 0.8 [{'connected_gene': 'CDKAL1', 'score': 0.44}, {'connected_gene': 'LOC105374968', 'score': 0.22}]
chr6 GH06I020588 20588926 20589665 0.46 [{'connected_gene': 'CDKAL1', 'score': 6.52}, {'connected_gene': 'LOC105374968', 'score': 0.44}]
chr6 GH06I020541 20541986 20544252 0.91 [{'connected_gene': 'CDKAL1', 'score': 6.53}, {'connected_gene': 'LOC105374968', 'score': 0.23}]
chr6 GH06I020533 20533693 20535815 2.04 [{'connected_gene': 'CDKAL1', 'score': 574.59}, {'connected_gene': 'LOC105374968', 'score': 0.21}]
chr6 GH06I020875 20875401 20880036 1.46 [{'connected_gene': 'CDKAL1', 'score': 18.37}, {'connected_gene': 'GC06P020868', 'score': 0.44}, {'connected_gene': 'GC06M020943', 'score': 0.19}]
chr6 GH06I020516 20516430 20516559 0.87 [{'connected_gene': 'CDKAL1', 'score': 0.37}, {'connected_gene': 'ENSG00000201683', 'score': 0.37}]
chr6 GH06I020519 20519387 20519470 0.22 [{'connected_gene': 'CDKAL1', 'score': 0.37}, {'connected_gene': 'ENSG00000201683', 'score': 0.37}]
chr6 GH06I020400 20400370 20406352 2.64 [{'connected_gene': 'E2F3', 'score': 550.77}, {'connected_gene': 'CDKAL1', 'score': 65.6}, {'connected_gene': 'MBOAT1', 'score': 1.97}, {'connected_gene': 'RN7SL128P', 'score': 0.37}]
chr6 GH06I020529 20529230 20529359 0.69 [{'connected_gene': 'E2F3', 'score': 12.48}, {'connected_gene': 'CDKAL1', 'score': 0.44}, {'connected_gene': 'ENSG00000201683', 'score': 0.31}]
chr6 GH06I020528 20528201 20529000 0.95 [{'connected_gene': 'E2F3', 'score': 12.48}, {'connected_gene': 'CDKAL1', 'score': 0.44}, {'connected_gene': 'ENSG00000201683', 'score': 0.31}]
chr6 GH06I020200 20200469 20213991 2.71 [{'connected_gene': 'MBOAT1', 'score': 561.72}, {'connected_gene': 'CDKAL1', 'score': 37.4}, {'connected_gene': 'LOC101928573', 'score': 0.77}, {'connected_gene': 'LOC105374965', 'score': 0.12}]
chr6 GH06I020994 20994564 20994856 0.22 [{'connected_gene': 'RNU6-150P', 'score': 550.77}, {'connected_gene': 'GC06P020984', 'score': 0.39}, {'connected_gene': 'GC06M021022', 'score': 0.29}, {'connected_gene': 'CDKAL1', 'score': 0.04}]
chr6 GH06I021003 21003382 21007183 1.15 [{'connected_gene': 'RNU6-150P', 'score': 0.39}, {'connected_gene': 'GC06P020984', 'score': 0.34}, {'connected_gene': 'GC06M021022', 'score': 0.34}, {'connected_gene': 'CDKAL1', 'score': 0.04}]
chr6 GH06I021002 21002789 21003225 0.2 [{'connected_gene': 'RNU6-150P', 'score': 0.44}, {'connected_gene': 'GC06P020984', 'score': 0.37}, {'connected_gene': 'GC06M021022', 'score': 0.34}, {'connected_gene': 'CDKAL1', 'score': 0.04}]
chr6 GH06I020564 20564715 20565140 0.46 [{'connected_gene': 'LOC105374968', 'score': 0.29}, {'connected_gene': 'CDKAL1', 'score': 0.29}]
chr6 GH06I020573 20573000 20573400 1.02 [{'connected_gene': 'LOC105374968', 'score': 0.34}, {'connected_gene': 'CDKAL1', 'score': 0.28}]
chr6 GH06I020575 20575310 20575460 1.09 [{'connected_gene': 'LOC105374968', 'score': 0.34}, {'connected_gene': 'CDKAL1', 'score': 0.26}]
chr6 GH06I020631 20631050 20631219 0.89 [{'connected_gene': 'LOC105374968', 'score': 0.29}, {'connected_gene': 'RPL36AP25', 'score': 0.16}, {'connected_gene': 'CDKAL1', 'score': 0.15}]
chr6 GH06I020652 20652168 20653616 0.68 [{'connected_gene': 'LOC105374968', 'score': 0.22}, {'connected_gene': 'RPL36AP25', 'score': 0.19}, {'connected_gene': 'CDKAL1', 'score': 0.13}]
chr6 GH06I020659 20659892 20662916 0.96 [{'connected_gene': 'LOC105374968', 'score': 0.21}, {'connected_gene': 'RPL36AP25', 'score': 0.21}, {'connected_gene': 'CDKAL1', 'score': 0.13}]
chr6 GH06I020629 20629578 20630931 0.72 [{'connected_gene': 'LOC105374968', 'score': 0.29}, {'connected_gene': 'RPL36AP25', 'score': 0.16}, {'connected_gene': 'CDKAL1', 'score': 0.15}]
chr6 GH06I020642 20642474 20642671 0.72 [{'connected_gene': 'LOC105374968', 'score': 0.26}, {'connected_gene': 'RPL36AP25', 'score': 0.18}, {'connected_gene': 'CDKAL1', 'score': 0.14}]
chr6 GH06I021201 21201924 21203046 0.79 [{'connected_gene': 'LOC105374966', 'score': 0.21}, {'connected_gene': 'ENSG00000227089', 'score': 0.1}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021227 21227786 21229304 0.31 [{'connected_gene': 'LOC105374966', 'score': 0.17}, {'connected_gene': 'ENSG00000227089', 'score': 0.13}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021185 21185518 21186739 0.72 [{'connected_gene': 'LOC105374966', 'score': 0.25}, {'connected_gene': 'ENSG00000227089', 'score': 0.1}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021164 21164943 21165200 0.88 [{'connected_gene': 'LOC105374966', 'score': 0.34}, {'connected_gene': 'ENSG00000227089', 'score': 0.08}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021158 21158270 21158419 0.73 [{'connected_gene': 'LOC105374966', 'score': 0.37}, {'connected_gene': 'ENSG00000227089', 'score': 0.08}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021188 21188306 21189560 1.06 [{'connected_gene': 'LOC105374966', 'score': 0.25}, {'connected_gene': 'ENSG00000227089', 'score': 0.1}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021207 21207946 21208650 0.72 [{'connected_gene': 'LOC105374966', 'score': 0.2}, {'connected_gene': 'ENSG00000227089', 'score': 0.11}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021200 21200601 21200800 0.51 [{'connected_gene': 'LOC105374966', 'score': 0.22}, {'connected_gene': 'ENSG00000227089', 'score': 0.1}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021191 21191201 21191599 0.69 [{'connected_gene': 'LOC105374966', 'score': 0.23}, {'connected_gene': 'ENSG00000227089', 'score': 0.1}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021163 21163135 21164179 0.84 [{'connected_gene': 'LOC105374966', 'score': 0.34}, {'connected_gene': 'ENSG00000227089', 'score': 0.08}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021192 21191800 21192000 0.51 [{'connected_gene': 'LOC105374966', 'score': 0.23}, {'connected_gene': 'ENSG00000227089', 'score': 0.1}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021220 21220390 21220539 0.31 [{'connected_gene': 'LOC105374966', 'score': 0.18}, {'connected_gene': 'ENSG00000227089', 'score': 0.12}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I019802 19802971 19806236 1.8 [{'connected_gene': 'LOC100506885', 'score': 35.39}, {'connected_gene': 'ID4', 'score': 17.95}, {'connected_gene': 'CDKAL1', 'score': 11.43}, {'connected_gene': 'PIR47063', 'score': 0.77}, {'connected_gene': 'GC06M019684', 'score': 0.15}, {'connected_gene': 'GC06M019417', 'score': 0.13}, {'connected_gene': 'GC06M019801', 'score': 0.1}]
chr6 GH06I020685 20685340 20692976 0.8 [{'connected_gene': 'RPL36AP25', 'score': 0.29}, {'connected_gene': 'LOC105374968', 'score': 0.16}, {'connected_gene': 'CDKAL1', 'score': 0.1}]
chr6 GH06I020680 20680626 20681200 0.2 [{'connected_gene': 'RPL36AP25', 'score': 0.26}, {'connected_gene': 'LOC105374968', 'score': 0.18}, {'connected_gene': 'CDKAL1', 'score': 0.11}]
chr6 GH06I020696 20696810 20696919 0.58 [{'connected_gene': 'RPL36AP25', 'score': 0.31}, {'connected_gene': 'LOC105374968', 'score': 0.15}, {'connected_gene': 'CDKAL1', 'score': 0.1}]
chr6 GH06I020770 20770870 20772380 0.38 [{'connected_gene': 'ENSG00000233848', 'score': 0.31}, {'connected_gene': 'GC06M020731', 'score': 0.28}, {'connected_gene': 'CDKAL1', 'score': 0.07}]
chr6 GH06I021025 21025454 21027838 0.65 [{'connected_gene': 'GC06M021022', 'score': 550.77}, {'connected_gene': 'GC06P021040', 'score': 0.39}, {'connected_gene': 'GC06P020984', 'score': 0.26}, {'connected_gene': 'CDKAL1', 'score': 0.04}]
chr6 GH06I020825 20825845 20827222 0.99 [{'connected_gene': 'GC06M020809', 'score': 0.77}, {'connected_gene': 'GC06P020818', 'score': 0.44}, {'connected_gene': 'GC06M020846', 'score': 0.34}, {'connected_gene': 'CDKAL1', 'score': 0.06}]
chr6 GH06I021123 21123386 21124135 0.57 [{'connected_gene': 'GC06P021133', 'score': 0.44}, {'connected_gene': 'GC06P021040', 'score': 0.18}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I020918 20918870 20919019 0.54 [{'connected_gene': 'GC06M020943', 'score': 0.29}, {'connected_gene': 'GC06P020868', 'score': 0.23}, {'connected_gene': 'CDKAL1', 'score': 0.05}]
chr6 GH06I020907 20907070 20907199 0.57 [{'connected_gene': 'GC06P020868', 'score': 0.28}, {'connected_gene': 'GC06M020943', 'score': 0.26}, {'connected_gene': 'CDKAL1', 'score': 0.05}]
chr6 GH06I020932 20932288 20933547 0.69 [{'connected_gene': 'GC06M020943', 'score': 0.37}, {'connected_gene': 'GC06P020868', 'score': 0.21}, {'connected_gene': 'CDKAL1', 'score': 0.05}]
chr6 GH06I020828 20827550 20827699 0.2 [{'connected_gene': 'GC06M020809', 'score': 0.77}, {'connected_gene': 'GC06M020846', 'score': 0.34}, {'connected_gene': 'CDKAL1', 'score': 0.06}]
chr6 GH06I020881 20881803 20882408 0.46 [{'connected_gene': 'GC06P020868', 'score': 0.39}, {'connected_gene': 'GC06M020943', 'score': 0.2}, {'connected_gene': 'CDKAL1', 'score': 0.05}]
chr6 GH06I020812 20812250 20812399 0.2 [{'connected_gene': 'GC06P020818', 'score': 0.44}, {'connected_gene': 'GC06M020809', 'score': 0.39}, {'connected_gene': 'ENSG00000233848', 'score': 0.39}, {'connected_gene': 'CDKAL1', 'score': 0.06}]
chr6 GH06I020834 20834270 20834419 0.2 [{'connected_gene': 'GC06M020809', 'score': 0.44}, {'connected_gene': 'GC06M020846', 'score': 0.37}, {'connected_gene': 'CDKAL1', 'score': 0.06}]
chr6 GH06I021098 21098014 21100583 0.67 [{'connected_gene': 'GC06P021133', 'score': 0.29}, {'connected_gene': 'GC06P021040', 'score': 0.22}, {'connected_gene': 'GC06P020984', 'score': 0.14}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I020846 20846690 20846859 0.94 [{'connected_gene': 'GC06M020846', 'score': 0.77}, {'connected_gene': 'GC06M020809', 'score': 0.34}, {'connected_gene': 'CDKAL1', 'score': 0.06}]
chr6 GH06I020837 20837330 20837399 0.69 [{'connected_gene': 'GC06M020846', 'score': 0.39}, {'connected_gene': 'GC06M020809', 'score': 0.39}, {'connected_gene': 'CDKAL1', 'score': 0.06}]
chr6 GH06I020952 20952256 20953769 0.66 [{'connected_gene': 'GC06M020943', 'score': 0.77}, {'connected_gene': 'GC06P020984', 'score': 0.29}, {'connected_gene': 'CDKAL1', 'score': 0.05}]
chr6 GH06I020873 20873563 20874429 0.49 [{'connected_gene': 'GC06P020868', 'score': 0.44}, {'connected_gene': 'GC06M020943', 'score': 0.18}, {'connected_gene': 'CDKAL1', 'score': 0.05}]
chr6 GH06I021101 21101810 21101959 0.77 [{'connected_gene': 'GC06P021133', 'score': 0.29}, {'connected_gene': 'GC06P021040', 'score': 0.21}, {'connected_gene': 'GC06P020984', 'score': 0.13}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021102 21102230 21104545 0.87 [{'connected_gene': 'GC06P021133', 'score': 0.31}, {'connected_gene': 'GC06P021040', 'score': 0.21}, {'connected_gene': 'GC06P020984', 'score': 0.13}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I021107 21107964 21112119 1.14 [{'connected_gene': 'GC06P021133', 'score': 0.34}, {'connected_gene': 'GC06P021040', 'score': 0.2}, {'connected_gene': 'GC06P020984', 'score': 0.13}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I020827 20827890 20828079 0.2 [{'connected_gene': 'GC06M020809', 'score': 0.77}, {'connected_gene': 'GC06M020846', 'score': 0.34}, {'connected_gene': 'CDKAL1', 'score': 0.06}]
chr6 GH06I021132 21132731 21133524 0.38 [{'connected_gene': 'GC06P021133', 'score': 550.77}, {'connected_gene': 'GC06P021040', 'score': 0.16}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I020866 20866874 20870298 1.14 [{'connected_gene': 'GC06P020868', 'score': 550.77}, {'connected_gene': 'GC06M020855', 'score': 0.44}, {'connected_gene': 'CDKAL1', 'score': 0.06}]
chr6 GH06I021032 21032974 21034762 0.63 [{'connected_gene': 'GC06P021040', 'score': 0.44}, {'connected_gene': 'GC06M021022', 'score': 0.44}, {'connected_gene': 'GC06P020984', 'score': 0.25}, {'connected_gene': 'CDKAL1', 'score': 0.04}]
chr6 GH06I021044 21044934 21045939 0.81 [{'connected_gene': 'GC06P021040', 'score': 0.44}, {'connected_gene': 'GC06P020984', 'score': 0.21}, {'connected_gene': 'GC06P021133', 'score': 0.17}, {'connected_gene': 'CDKAL1', 'score': 0.03}]
chr6 GH06I020978 20978210 20978519 0.59 [{'connected_gene': 'GC06P020984', 'score': 0.44}, {'connected_gene': 'GC06M020943', 'score': 0.31}, {'connected_gene': 'CDKAL1', 'score': 0.04}]
chr6 GH06I020497 20497104 20498336 0.94 [{'connected_gene': 'GC06M020495', 'score': 550.77}, {'connected_gene': 'MBOAT1', 'score': 11.56}, {'connected_gene': 'LOC101928573', 'score': 10.37}, {'connected_gene': 'CDKAL1', 'score': 4.62}, {'connected_gene': 'GC06P020501', 'score': 0.77}]
chr6 GH06I021021 21021458 21024538 1.13 [{'connected_gene': 'GC06M021022', 'score': 0.77}, {'connected_gene': 'RNU6-150P', 'score': 0.31}, {'connected_gene': 'GC06P020984', 'score': 0.28}, {'connected_gene': 'CDKAL1', 'score': 0.04}]

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