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
ENST00000299004 [[94439596, 94439763], [94462086, 94462221], [94474103, 94474154], [94528176, 94528326], [94532555, 94532705]] [[94462136, 94462221], [94474103, 94474154], [94528176, 94528326], [94532555, 94532705]]
ENST00000317829 [[94501507, 94501726], [94532555, 94533477], [94554695, 94554987], [94563215, 94563360], [94564617, 94564707], [94583278, 94583424], [94587097, 94587247], [94592689, 94592880], [94597899, 94598025], [94599106, 94599333], [94602362, 94602638], [94603853, 94609913]] [[94501677, 94501726], [94532555, 94533477], [94554695, 94554987], [94563215, 94563360], [94564617, 94564707], [94583278, 94583424], [94587097, 94587247], [94592689, 94592880], [94597899, 94598025], [94599106, 94599333], [94602362, 94602638], [94603853, 94603960]]
ENST00000317837 [[94501507, 94501726], [94528176, 94528326], [94532555, 94533477], [94554695, 94554746], [94554945, 94554955], [94599266, 94599333], [94602362, 94602638], [94603853, 94609918]] [[94501677, 94501726], [94528176, 94528326], [94532555, 94533477], [94554695, 94554746], [94554945, 94554955], [94599266, 94599333], [94602362, 94602638], [94603853, 94603960]]
ENST00000433060 [[94501536, 94501726], [94528176, 94528326], [94532555, 94533477], [94554695, 94554987], [94563215, 94563360], [94564617, 94564707], [94583278, 94583424], [94587097, 94587247], [94592689, 94592880], [94597899, 94598025], [94599106, 94599333], [94602362, 94602638], [94603853, 94609918]] [[94501677, 94501726], [94528176, 94528326], [94532555, 94533477], [94554695, 94554987], [94563215, 94563360], [94564617, 94564707], [94583278, 94583424], [94587097, 94587247], [94592689, 94592880], [94597899, 94598025], [94599106, 94599333], [94602362, 94602638], [94603853, 94603960]]
ENST00000539727 [[94553465, 94553551], [94554695, 94554987], [94563215, 94563315]] None
ENST00000537191 [[94597992, 94598025], [94599106, 94599930]] None
NM_001301007 [[94501507, 94501726], [94532555, 94533477], [94554695, 94554987], [94563215, 94563360], [94564617, 94564707], [94583278, 94583424], [94587097, 94587247], [94592689, 94592880], [94597899, 94598025], [94599106, 94599333], [94602362, 94602638], [94603853, 94609918]] [[94501677, 94501726], [94532555, 94533477], [94554695, 94554987], [94563215, 94563360], [94564617, 94564707], [94583278, 94583424], [94587097, 94587247], [94592689, 94592880], [94597899, 94598025], [94599106, 94599333], [94602362, 94602638], [94603853, 94603960]]
NM_130847 [[94501507, 94501726], [94528176, 94528326], [94532555, 94533477], [94554695, 94554987], [94563215, 94563360], [94564617, 94564707], [94583278, 94583424], [94587097, 94587247], [94592689, 94592880], [94597899, 94598025], [94599106, 94599333], [94602362, 94602638], [94603853, 94609918]] [[94501677, 94501726], [94528176, 94528326], [94532555, 94533477], [94554695, 94554987], [94563215, 94563360], [94564617, 94564707], [94583278, 94583424], [94587097, 94587247], [94592689, 94592880], [94597899, 94598025], [94599106, 94599333], [94602362, 94602638], [94603853, 94603960]]
Promoter
Chrom Start End Description
chr11 94439579 94439590 CAGE_peak_11_at_AMOTL1_5end
chr11 94439591 94439602 CAGE_peak_7_at_AMOTL1_5end
chr11 94439606 94439641 CAGE_peak_2_at_AMOTL1_5end
chr11 94439650 94439668 CAGE_peak_4_at_AMOTL1_5end
chr11 94439679 94439690 CAGE_peak_9_at_AMOTL1_5end
chr11 94439700 94439729 CAGE_peak_5_at_AMOTL1_5end
chr11 94501189 94501203 CAGE_peak_18_at_AMOTL1_5end
chr11 94501466 94501490 CAGE_peak_3_at_AMOTL1_5end
chr11 94501497 94501577 CAGE_peak_1_at_AMOTL1_5end
chr11 94587086 94587097 CAGE_peak_19_at_AMOTL1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I094841 94841561 94841693 0.24 [{'connected_gene': 'KDM4D', 'score': 9.66}, {'connected_gene': 'PIWIL4', 'score': 5.42}, {'connected_gene': 'GC11P094845', 'score': 0.77}, {'connected_gene': 'GC11P094827', 'score': 0.37}, {'connected_gene': 'AMOTL1', 'score': 0.12}]
chr11 GH11I094875 94875821 94878104 1.02 [{'connected_gene': 'CWC15', 'score': 10.84}, {'connected_gene': 'KDM4D', 'score': 10.84}, {'connected_gene': 'ENSG00000256469', 'score': 10.58}, {'connected_gene': 'AMOTL1', 'score': 4.66}, {'connected_gene': 'GC11M094851', 'score': 0.34}, {'connected_gene': 'ST13P11', 'score': 0.28}]
chr11 GH11I094705 94705247 94708039 1.26 [{'connected_gene': 'AMOTL1', 'score': 556.57}, {'connected_gene': 'MED17', 'score': 16.34}, {'connected_gene': 'SNORA1', 'score': 12.51}, {'connected_gene': 'MRE11', 'score': 11.48}, {'connected_gene': 'ANKRD49', 'score': 10.46}, {'connected_gene': 'KDM4E', 'score': 2.85}, {'connected_gene': 'LOC105369438', 'score': 0.29}]
chr11 GH11I094727 94727249 94729564 0.56 [{'connected_gene': 'AMOTL1', 'score': 18.07}, {'connected_gene': 'KDM4E', 'score': 8.95}, {'connected_gene': 'LOC105369438', 'score': 0.39}]
chr11 GH11I094729 94729602 94735705 1.31 [{'connected_gene': 'AMOTL1', 'score': 15.36}, {'connected_gene': 'KDM4E', 'score': 8.95}, {'connected_gene': 'LOC105369438', 'score': 0.44}]
chr11 GH11I094676 94676348 94679589 0.57 [{'connected_gene': 'AMOTL1', 'score': 11.67}, {'connected_gene': 'LOC105369438', 'score': 10.61}, {'connected_gene': 'ENSG00000256469', 'score': 10.44}, {'connected_gene': 'SCARNA9', 'score': 4.51}, {'connected_gene': 'ENSG00000255893', 'score': 4.4}, {'connected_gene': 'LOC105369435', 'score': 4.19}, {'connected_gene': 'PIR37342', 'score': 0.77}]
chr11 GH11I094654 94654595 94658203 0.49 [{'connected_gene': 'AMOTL1', 'score': 11.36}, {'connected_gene': 'LOC105369438', 'score': 11.06}, {'connected_gene': 'KDM4E', 'score': 9.97}, {'connected_gene': 'ENSG00000255666', 'score': 6.47}, {'connected_gene': 'GC11M094652', 'score': 0.77}, {'connected_gene': 'GC11M094662', 'score': 0.44}, {'connected_gene': 'LOC105369436', 'score': 0.34}]
chr11 GH11I094765 94765280 94771971 2.45 [{'connected_gene': 'AMOTL1', 'score': 550.21}, {'connected_gene': 'LOC105369438', 'score': 11.47}, {'connected_gene': 'ENSG00000270578', 'score': 11.39}, {'connected_gene': 'BUD13P1', 'score': 11.2}, {'connected_gene': 'ENSG00000256469', 'score': 9.84}, {'connected_gene': 'KDM4E', 'score': 9.48}, {'connected_gene': 'MRE11', 'score': 4.54}, {'connected_gene': 'GC11M094750', 'score': 0.37}, {'connected_gene': 'GC11M094788', 'score': 0.31}]
chr11 GH11I094658 94658475 94659705 0.31 [{'connected_gene': 'AMOTL1', 'score': 11.31}, {'connected_gene': 'LOC105369438', 'score': 11.06}, {'connected_gene': 'GC11M094662', 'score': 0.77}, {'connected_gene': 'GC11M094652', 'score': 0.44}]
chr11 GH11I094719 94719303 94721404 0.31 [{'connected_gene': 'AMOTL1', 'score': 7.17}, {'connected_gene': 'LOC105369438', 'score': 0.34}]
chr11 GH11I094710 94708074 94708542 0.2 [{'connected_gene': 'AMOTL1', 'score': 550.77}, {'connected_gene': 'LOC105369438', 'score': 11.84}]
chr11 GH11I094692 94692683 94696632 0.2 [{'connected_gene': 'AMOTL1', 'score': 5.12}, {'connected_gene': 'PIR37342', 'score': 0.34}, {'connected_gene': 'LOC105369438', 'score': 0.25}]
chr11 GH11I094780 94780201 94782756 0.89 [{'connected_gene': 'LOC105369438', 'score': 10.93}, {'connected_gene': 'ANKRD49', 'score': 4.83}, {'connected_gene': 'GC11M094788', 'score': 0.39}, {'connected_gene': 'GC11M094750', 'score': 0.31}, {'connected_gene': 'AMOTL1', 'score': 0.18}]
chr11 GH11I094763 94763682 94764444 0.31 [{'connected_gene': 'LOC105369438', 'score': 11.49}, {'connected_gene': 'ENSG00000256469', 'score': 9.83}, {'connected_gene': 'KDM4E', 'score': 9.48}, {'connected_gene': 'GC11M094750', 'score': 0.39}, {'connected_gene': 'GC11M094788', 'score': 0.29}, {'connected_gene': 'AMOTL1', 'score': 0.22}]
chr11 GH11I094762 94762188 94763626 0.6 [{'connected_gene': 'LOC105369438', 'score': 12.04}, {'connected_gene': 'AMOTL1', 'score': 10.53}, {'connected_gene': 'ENSG00000256469', 'score': 10.2}, {'connected_gene': 'KDM4E', 'score': 9.48}, {'connected_gene': 'GC11M094750', 'score': 0.39}, {'connected_gene': 'GC11M094788', 'score': 0.29}]
chr11 GH11I094623 94623215 94623424 0.69 [{'connected_gene': 'LOC105369438', 'score': 10.81}, {'connected_gene': 'AMOTL1', 'score': 10.16}, {'connected_gene': 'LOC101929295', 'score': 10.05}, {'connected_gene': 'LOC105369436', 'score': 0.39}, {'connected_gene': 'GC11M094556', 'score': 0.22}]
chr11 GH11I094804 94804597 94809071 0.38 [{'connected_gene': 'LOC105369438', 'score': 11.09}, {'connected_gene': 'AMOTL1', 'score': 10.19}, {'connected_gene': 'GC11M094788', 'score': 0.39}, {'connected_gene': 'GC11P094827', 'score': 0.37}]
chr11 GH11I094809 94809166 94810024 0.51 [{'connected_gene': 'LOC105369438', 'score': 11.09}, {'connected_gene': 'AMOTL1', 'score': 10.19}, {'connected_gene': 'GC11M094788', 'score': 0.39}, {'connected_gene': 'GC11P094827', 'score': 0.37}]
chr11 GH11I094801 94801851 94804224 0.51 [{'connected_gene': 'LOC105369438', 'score': 11.4}, {'connected_gene': 'GC11M094788', 'score': 0.44}, {'connected_gene': 'GC11P094827', 'score': 0.34}, {'connected_gene': 'AMOTL1', 'score': 0.15}]
chr11 GH11I094835 94835715 94835864 0.52 [{'connected_gene': 'LOC105369438', 'score': 10.54}, {'connected_gene': 'GC11P094845', 'score': 0.39}, {'connected_gene': 'GC11P094827', 'score': 0.39}, {'connected_gene': 'AMOTL1', 'score': 0.13}]
chr11 GH11I094773 94773506 94777524 1.3 [{'connected_gene': 'LOC105369438', 'score': 11.94}, {'connected_gene': 'GC11M094788', 'score': 0.37}, {'connected_gene': 'GC11M094750', 'score': 0.34}, {'connected_gene': 'AMOTL1', 'score': 0.2}]
chr11 GH11I094708 94708775 94708924 0.46 [{'connected_gene': 'LOC105369438', 'score': 11.84}, {'connected_gene': 'AMOTL1', 'score': 0.77}]
chr11 GH11I094834 94834995 94835144 0.38 [{'connected_gene': 'LOC105369438', 'score': 10.54}, {'connected_gene': 'GC11P094827', 'score': 0.44}, {'connected_gene': 'GC11P094845', 'score': 0.39}, {'connected_gene': 'AMOTL1', 'score': 0.13}]
chr11 GH11I094721 94721473 94722443 0.31 [{'connected_gene': 'LOC105369438', 'score': 0.37}, {'connected_gene': 'AMOTL1', 'score': 0.37}]
chr11 GH11I094813 94813488 94815295 0.66 [{'connected_gene': 'LOC105369438', 'score': 10.84}, {'connected_gene': 'GC11P094827', 'score': 0.39}, {'connected_gene': 'GC11M094788', 'score': 0.37}, {'connected_gene': 'AMOTL1', 'score': 0.14}]
chr11 GH11I094735 94735898 94743550 1.6 [{'connected_gene': 'LOC105369438', 'score': 550.77}, {'connected_gene': 'BUD13P1', 'score': 5.73}, {'connected_gene': 'TAF1D', 'score': 3.95}, {'connected_gene': 'AMOTL1', 'score': 0.29}]
chr11 GH11I094709 94709384 94709788 0.31 [{'connected_gene': 'BUD13P1', 'score': 15.21}, {'connected_gene': 'ENSG00000270578', 'score': 13.28}, {'connected_gene': 'LOC105369438', 'score': 11.84}, {'connected_gene': 'AMOTL1', 'score': 0.77}]
chr11 GH11I094866 94866585 94867959 0.49 [{'connected_gene': 'GC11M094851', 'score': 0.39}, {'connected_gene': 'ST13P11', 'score': 0.25}, {'connected_gene': 'AMOTL1', 'score': 0.1}]
chr11 GH11I094864 94864673 94864763 0.2 [{'connected_gene': 'GC11M094851', 'score': 0.39}, {'connected_gene': 'ST13P11', 'score': 0.25}, {'connected_gene': 'AMOTL1', 'score': 0.1}]
chr11 GH11I094862 94862844 94864163 0.2 [{'connected_gene': 'GC11M094851', 'score': 0.39}, {'connected_gene': 'ST13P11', 'score': 0.25}, {'connected_gene': 'AMOTL1', 'score': 0.1}]
chr11 GH11I094851 94851102 94852822 0.31 [{'connected_gene': 'GC11M094851', 'score': 550.77}, {'connected_gene': 'CWC15', 'score': 10.6}, {'connected_gene': 'KDM4D', 'score': 10.6}, {'connected_gene': 'GC11P094845', 'score': 0.44}, {'connected_gene': 'AMOTL1', 'score': 0.11}]
chr11 GH11I094673 94673299 94675761 0.2 [{'connected_gene': 'PIR37342', 'score': 550.77}, {'connected_gene': 'AMOTL1', 'score': 17.22}, {'connected_gene': 'LOC105369438', 'score': 10.61}, {'connected_gene': 'SCARNA9', 'score': 4.79}]
chr11 GH11I094647 94647328 94648383 0.43 [{'connected_gene': 'GC11M094645', 'score': 550.77}, {'connected_gene': 'AMOTL1', 'score': 11.35}, {'connected_gene': 'LOC105369438', 'score': 10.73}, {'connected_gene': 'KDM4E', 'score': 9.97}, {'connected_gene': 'ENSG00000255666', 'score': 6.24}, {'connected_gene': 'GC11M094652', 'score': 0.44}, {'connected_gene': 'LOC105369436', 'score': 0.39}]
chr11 GH11I094648 94648524 94654102 1.06 [{'connected_gene': 'ENSG00000255666', 'score': 14.64}, {'connected_gene': 'AMOTL1', 'score': 11.35}, {'connected_gene': 'LOC105369438', 'score': 10.74}, {'connected_gene': 'KDM4E', 'score': 9.97}, {'connected_gene': 'GC11M094645', 'score': 0.77}, {'connected_gene': 'GC11M094652', 'score': 0.77}, {'connected_gene': 'LOC105369436', 'score': 0.37}]
chr11 GH11I094745 94745799 94754422 1.45 [{'connected_gene': 'GC11M094750', 'score': 550.77}, {'connected_gene': 'AMOTL1', 'score': 12.76}, {'connected_gene': 'ENSG00000256469', 'score': 10.65}, {'connected_gene': 'LOC105369438', 'score': 0.44}]
chr11 GH11I094785 94785601 94792101 1.19 [{'connected_gene': 'ENSG00000256469', 'score': 10.77}, {'connected_gene': 'AMOTL1', 'score': 10.76}, {'connected_gene': 'GC11M094788', 'score': 0.44}, {'connected_gene': 'GC11M094750', 'score': 0.28}]
chr11 GH11I094797 94797125 94798093 0.43 [{'connected_gene': 'GC11M094788', 'score': 0.77}, {'connected_gene': 'GC11P094827', 'score': 0.31}, {'connected_gene': 'AMOTL1', 'score': 0.16}]
chr11 GH11I094792 94792463 94796800 1.24 [{'connected_gene': 'GC11M094788', 'score': 550.77}, {'connected_gene': 'GC11M094750', 'score': 0.26}, {'connected_gene': 'AMOTL1', 'score': 0.17}]
chr11 GH11I094802 94801172 94801382 0.4 [{'connected_gene': 'GC11M094788', 'score': 0.44}, {'connected_gene': 'GC11P094827', 'score': 0.34}, {'connected_gene': 'AMOTL1', 'score': 0.16}]
chr11 GH11I094798 94798367 94799126 0.2 [{'connected_gene': 'GC11M094788', 'score': 0.77}, {'connected_gene': 'GC11P094827', 'score': 0.31}, {'connected_gene': 'AMOTL1', 'score': 0.16}]
chr11 GH11I094783 94783542 94783904 0.31 [{'connected_gene': 'GC11M094788', 'score': 0.39}, {'connected_gene': 'GC11M094750', 'score': 0.29}, {'connected_gene': 'AMOTL1', 'score': 0.18}]
chr11 GH11I094800 94800495 94800684 0.66 [{'connected_gene': 'GC11M094788', 'score': 0.44}, {'connected_gene': 'GC11P094827', 'score': 0.34}, {'connected_gene': 'AMOTL1', 'score': 0.16}]
chr11 GH11I094832 94832172 94833936 0.62 [{'connected_gene': 'GC11P094827', 'score': 0.44}, {'connected_gene': 'GC11P094845', 'score': 0.39}, {'connected_gene': 'AMOTL1', 'score': 0.13}]
chr11 GH11I094844 94844842 94846376 0.66 [{'connected_gene': 'GC11P094845', 'score': 550.77}, {'connected_gene': 'GC11P094827', 'score': 0.34}, {'connected_gene': 'AMOTL1', 'score': 0.12}]
chr11 GH11I094799 94799450 94800348 0.31 [{'connected_gene': 'GC11M094788', 'score': 0.44}, {'connected_gene': 'GC11P094827', 'score': 0.31}, {'connected_gene': 'AMOTL1', 'score': 0.16}]

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