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
ENST00000420304 [[226124297, 226125504], [226127060, 226127300], [226127455, 226127571], [226127673, 226127702], [226128590, 226129083]] [[226125140, 226125504], [226127060, 226127300], [226127455, 226127571], [226127673, 226127702], [226128590, 226128840]]
ENST00000366820 [[226124303, 226125504], [226127060, 226127300], [226127455, 226127702], [226128590, 226129189]] [[226125140, 226125504], [226127060, 226127300], [226127455, 226127702], [226128590, 226128840]]
ENST00000474493 [[226127131, 226127300], [226127455, 226127801]] None
NM_003240 [[226124297, 226125504], [226127060, 226127300], [226127455, 226127702], [226128590, 226129192]] [[226125140, 226125504], [226127060, 226127300], [226127455, 226127702], [226128590, 226128840]]
NM_001172425 [[226124297, 226125504], [226127060, 226127300], [226127455, 226127571], [226127673, 226127702], [226128590, 226129192]] [[226125140, 226125504], [226127060, 226127300], [226127455, 226127571], [226127673, 226127702], [226128590, 226128840]]
Promoter
Chrom Start End Description
chr1 226128912 226128927 CAGE_peak_1_at_LEFTY2_5end
chr1 226129114 226129123 CAGE_peak_3_at_LEFTY2_5end
chr1 226129194 226129232 CAGE_peak_2_at_LEFTY2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I225874 225874118 225884202 2.72 [{'connected_gene': 'TMEM63A', 'score': 566.63}, {'connected_gene': 'LEFTY2', 'score': 23.37}, {'connected_gene': 'ACBD3', 'score': 19.16}, {'connected_gene': 'PYCR2', 'score': 16.94}, {'connected_gene': 'LEFTY1', 'score': 12.6}, {'connected_gene': 'ENSG00000255835', 'score': 11.62}, {'connected_gene': 'ENSG00000248322', 'score': 11.59}, {'connected_gene': 'SDE2', 'score': 10.44}, {'connected_gene': 'H3F3A', 'score': 4.61}, {'connected_gene': 'ENSG00000242861', 'score': 0.29}]
chr1 GH01I225851 225851320 225853062 0.93 [{'connected_gene': 'TMEM63A', 'score': 27.2}, {'connected_gene': 'LEFTY2', 'score': 19.77}, {'connected_gene': 'PYCR2', 'score': 16.47}, {'connected_gene': 'ENSG00000255835', 'score': 11.45}, {'connected_gene': 'ENSG00000248322', 'score': 11.43}, {'connected_gene': 'LEFTY1', 'score': 10.96}, {'connected_gene': 'ENSG00000242861', 'score': 0.44}]
chr1 GH01I225821 225820387 225821032 0.66 [{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'ITPKB', 'score': 4.23}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'EPHX1', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225815 225815801 225819000 1.33 [{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.68}, {'connected_gene': 'PYCR2', 'score': 11.68}, {'connected_gene': 'ENSG00000248322', 'score': 11.66}, {'connected_gene': 'LEFTY2', 'score': 11.66}, {'connected_gene': 'LEFTY1', 'score': 10.96}, {'connected_gene': 'EPHX1', 'score': 8.56}, {'connected_gene': 'ITPKB', 'score': 4.87}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225820 225819635 225819683 0.43 [{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'EPHX1', 'score': 0.44}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225819 225819801 225820000 0.51 [{'connected_gene': 'TMEM63A', 'score': 11.72}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.14}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY1', 'score': 10.78}, {'connected_gene': 'EPHX1', 'score': 0.44}, {'connected_gene': 'GC01P225813', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225854 225854813 225858554 0.43 [{'connected_gene': 'TMEM63A', 'score': 26.49}, {'connected_gene': 'PYCR2', 'score': 26.37}, {'connected_gene': 'LEFTY1', 'score': 22.04}, {'connected_gene': 'LEFTY2', 'score': 20.0}, {'connected_gene': 'ENSG00000255835', 'score': 11.46}, {'connected_gene': 'ENSG00000248322', 'score': 11.44}, {'connected_gene': 'LEFTY3', 'score': 4.68}, {'connected_gene': 'ENSG00000242861', 'score': 0.39}]
chr1 GH01I225895 225895885 225900310 1.6 [{'connected_gene': 'TMEM63A', 'score': 20.11}, {'connected_gene': 'LEFTY1', 'score': 14.81}, {'connected_gene': 'LEFTY2', 'score': 9.04}, {'connected_gene': 'LBR', 'score': 7.36}, {'connected_gene': 'SDE2', 'score': 6.38}, {'connected_gene': 'H3F3A', 'score': 1.91}, {'connected_gene': 'ENSG00000255835', 'score': 0.31}]
chr1 GH01I225865 225865215 225867346 0.69 [{'connected_gene': 'LEFTY2', 'score': 16.19}, {'connected_gene': 'PYCR2', 'score': 16.12}, {'connected_gene': 'TMEM63A', 'score': 12.89}, {'connected_gene': 'LEFTY1', 'score': 11.94}, {'connected_gene': 'ENSG00000255835', 'score': 11.1}, {'connected_gene': 'ENSG00000248322', 'score': 11.07}, {'connected_gene': 'ENSG00000242861', 'score': 0.37}]
chr1 GH01I225868 225868487 225869815 0.38 [{'connected_gene': 'LEFTY2', 'score': 20.18}, {'connected_gene': 'PYCR2', 'score': 16.52}, {'connected_gene': 'TMEM63A', 'score': 12.13}, {'connected_gene': 'LEFTY1', 'score': 11.95}, {'connected_gene': 'ENSG00000255835', 'score': 11.52}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'ENSG00000242861', 'score': 0.34}]
chr1 GH01I225976 225976000 225976401 1.14 [{'connected_gene': 'LEFTY2', 'score': 12.38}, {'connected_gene': 'ENSG00000248322', 'score': 12.36}, {'connected_gene': 'ENSG00000255835', 'score': 12.32}, {'connected_gene': 'PYCR2', 'score': 12.32}, {'connected_gene': 'NDUFA3P3', 'score': 0.39}, {'connected_gene': 'SDE2', 'score': 0.34}, {'connected_gene': 'GC01M225948', 'score': 0.2}]
chr1 GH01I225978 225978020 225978924 0.79 [{'connected_gene': 'LEFTY2', 'score': 12.36}, {'connected_gene': 'ENSG00000248322', 'score': 12.35}, {'connected_gene': 'ENSG00000255835', 'score': 12.32}, {'connected_gene': 'PYCR2', 'score': 12.32}, {'connected_gene': 'H3F3A', 'score': 8.34}, {'connected_gene': 'NDUFA3P3', 'score': 0.39}, {'connected_gene': 'SDE2', 'score': 0.34}, {'connected_gene': 'GC01M225948', 'score': 0.2}]
chr1 GH01I225837 225837864 225845225 0.64 [{'connected_gene': 'LEFTY2', 'score': 19.37}, {'connected_gene': 'PYCR2', 'score': 16.25}, {'connected_gene': 'ENSG00000255835', 'score': 10.83}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'LEFTY1', 'score': 9.31}, {'connected_gene': 'TMEM63A', 'score': 6.03}, {'connected_gene': 'ENAH', 'score': 4.55}, {'connected_gene': 'ENSG00000242861', 'score': 0.77}, {'connected_gene': 'EPHX1', 'score': 0.29}, {'connected_gene': 'GC01P225813', 'score': 0.29}]
chr1 GH01I225861 225861289 225863857 0.62 [{'connected_gene': 'LEFTY2', 'score': 19.54}, {'connected_gene': 'LEFTY1', 'score': 16.6}, {'connected_gene': 'PYCR2', 'score': 16.44}, {'connected_gene': 'TMEM63A', 'score': 12.21}, {'connected_gene': 'ENSG00000255835', 'score': 11.09}, {'connected_gene': 'ENSG00000248322', 'score': 11.07}, {'connected_gene': 'ENSG00000242861', 'score': 0.37}]
chr1 GH01I225939 225939153 225942201 1.56 [{'connected_gene': 'LEFTY2', 'score': 572.24}, {'connected_gene': 'LEFTY1', 'score': 6.72}, {'connected_gene': 'PYCR2', 'score': 5.56}, {'connected_gene': 'TMEM63A', 'score': 4.28}, {'connected_gene': 'ENSG00000248322', 'score': 0.77}]
chr1 GH01I225962 225962301 225962823 1.09 [{'connected_gene': 'NDUFA3P3', 'score': 550.77}, {'connected_gene': 'LEFTY2', 'score': 12.44}, {'connected_gene': 'ENSG00000248322', 'score': 12.41}, {'connected_gene': 'ENSG00000255835', 'score': 12.38}, {'connected_gene': 'PYCR2', 'score': 12.38}, {'connected_gene': 'ACBD3-AS1', 'score': 11.84}, {'connected_gene': 'LEFTY1', 'score': 11.47}, {'connected_gene': 'ACBD3', 'score': 9.73}, {'connected_gene': 'GC01M225948', 'score': 0.18}]
chr1 GH01I225944 225944850 225946512 0.97 [{'connected_gene': 'H3F3A', 'score': 4.39}, {'connected_gene': 'LEFTY2', 'score': 0.77}, {'connected_gene': 'NDUFA3P3', 'score': 0.37}]
chr1 GH01I225822 225822719 225828026 2.11 [{'connected_gene': 'EPHX1', 'score': 590.62}, {'connected_gene': 'TMEM63A', 'score': 11.74}, {'connected_gene': 'LEFTY1', 'score': 11.43}, {'connected_gene': 'ENSG00000255835', 'score': 11.17}, {'connected_gene': 'PYCR2', 'score': 11.17}, {'connected_gene': 'ENSG00000248322', 'score': 11.15}, {'connected_gene': 'LEFTY2', 'score': 11.14}, {'connected_gene': 'LEFTY3', 'score': 6.53}, {'connected_gene': 'SRP9', 'score': 5.67}, {'connected_gene': 'GC01P225813', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.34}]
chr1 GH01I225809 225809499 225815179 2.46 [{'connected_gene': 'EPHX1', 'score': 555.68}, {'connected_gene': 'GC01P225813', 'score': 550.77}, {'connected_gene': 'ENSG00000255835', 'score': 11.67}, {'connected_gene': 'PYCR2', 'score': 11.67}, {'connected_gene': 'ENSG00000248322', 'score': 11.66}, {'connected_gene': 'LEFTY2', 'score': 11.66}, {'connected_gene': 'LEFTY3', 'score': 7.27}, {'connected_gene': 'SRP9', 'score': 5.45}, {'connected_gene': 'ITPKB', 'score': 4.1}, {'connected_gene': 'GC01P225812', 'score': 0.77}, {'connected_gene': 'GC01P225811', 'score': 0.77}, {'connected_gene': 'ENSG00000242861', 'score': 0.29}]
chr1 GH01I225677 225677244 225678224 0.63 [{'connected_gene': 'ACBD3-AS1', 'score': 12.04}, {'connected_gene': 'ACBD3', 'score': 11.13}, {'connected_gene': 'ENSG00000248322', 'score': 10.14}, {'connected_gene': 'ENSG00000255835', 'score': 10.14}, {'connected_gene': 'PYCR2', 'score': 10.14}, {'connected_gene': 'LEFTY2', 'score': 10.14}, {'connected_gene': 'ENAH', 'score': 7.54}, {'connected_gene': 'LOC102723834', 'score': 0.34}]
chr1 GH01I225761 225761737 225764748 1.21 [{'connected_gene': 'RNU6-1304P', 'score': 13.79}, {'connected_gene': 'ENSG00000255835', 'score': 10.53}, {'connected_gene': 'PYCR2', 'score': 10.53}, {'connected_gene': 'LEFTY2', 'score': 10.53}, {'connected_gene': 'ENSG00000248322', 'score': 10.53}, {'connected_gene': 'ENAH', 'score': 5.68}, {'connected_gene': 'SRP9', 'score': 0.39}]
chr1 GH01I225950 225950794 225951800 0.77 [{'connected_gene': 'LEFTY1', 'score': 11.88}, {'connected_gene': 'LEFTY2', 'score': 0.44}, {'connected_gene': 'NDUFA3P3', 'score': 0.39}, {'connected_gene': 'GC01M225948', 'score': 0.16}]
chr1 GH01I225887 225887290 225892040 1.75 [{'connected_gene': 'LEFTY1', 'score': 578.17}, {'connected_gene': 'PYCR2', 'score': 30.11}, {'connected_gene': 'LEFTY2', 'score': 23.5}, {'connected_gene': 'TMEM63A', 'score': 13.46}, {'connected_gene': 'ENSG00000255835', 'score': 12.02}, {'connected_gene': 'ENSG00000248322', 'score': 11.97}, {'connected_gene': 'DNAH14', 'score': 5.98}]
chr1 GH01I225886 225886829 225887174 0.54 [{'connected_gene': 'LEFTY1', 'score': 28.35}, {'connected_gene': 'ENSG00000255835', 'score': 12.0}, {'connected_gene': 'PYCR2', 'score': 12.0}, {'connected_gene': 'LEFTY2', 'score': 11.96}, {'connected_gene': 'ENSG00000248322', 'score': 11.96}, {'connected_gene': 'TMEM63A', 'score': 0.77}]
chr1 GH01I225870 225870938 225871463 0.68 [{'connected_gene': 'LINC01703', 'score': 15.89}, {'connected_gene': 'ENSG00000255835', 'score': 11.53}, {'connected_gene': 'PYCR2', 'score': 11.53}, {'connected_gene': 'LEFTY1', 'score': 11.5}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'LEFTY2', 'score': 11.49}, {'connected_gene': 'ENAH', 'score': 10.97}, {'connected_gene': 'TMEM63A', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.34}]
chr1 GH01I225871 225871561 225871710 0.87 [{'connected_gene': 'LINC01703', 'score': 15.89}, {'connected_gene': 'ENSG00000255835', 'score': 11.53}, {'connected_gene': 'PYCR2', 'score': 11.53}, {'connected_gene': 'LEFTY1', 'score': 11.52}, {'connected_gene': 'LEFTY2', 'score': 11.5}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'ENAH', 'score': 10.97}, {'connected_gene': 'TMEM63A', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225459 225459755 225469289 1.75 [{'connected_gene': 'LOC105373110', 'score': 562.61}, {'connected_gene': 'ENSG00000282418', 'score': 550.77}, {'connected_gene': 'LBR', 'score': 56.31}, {'connected_gene': 'ACBD3', 'score': 13.87}, {'connected_gene': 'ACBD3-AS1', 'score': 10.86}, {'connected_gene': 'ENSG00000255835', 'score': 10.81}, {'connected_gene': 'PYCR2', 'score': 10.81}, {'connected_gene': 'LEFTY2', 'score': 10.81}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'ENAH', 'score': 6.89}, {'connected_gene': 'TMEM63A', 'score': 3.18}, {'connected_gene': 'GC01M225252', 'score': 0.31}]
chr1 GH01I225670 225670692 225672138 0.86 [{'connected_gene': 'LOC102723834', 'score': 12.5}, {'connected_gene': 'ENSG00000255835', 'score': 10.46}, {'connected_gene': 'PYCR2', 'score': 10.46}, {'connected_gene': 'ENSG00000248322', 'score': 10.45}, {'connected_gene': 'LEFTY2', 'score': 10.45}, {'connected_gene': 'LBR', 'score': 4.56}, {'connected_gene': 'ENAH', 'score': 0.44}]
chr1 GH01I225905 225905712 225906210 0.2 [{'connected_gene': 'ENSG00000248322', 'score': 11.89}, {'connected_gene': 'LEFTY2', 'score': 11.87}, {'connected_gene': 'LEFTY1', 'score': 0.44}, {'connected_gene': 'ENSG00000255835', 'score': 0.37}, {'connected_gene': 'TMEM63A', 'score': 0.34}]
chr1 GH01I225845 225845420 225845569 0.63 [{'connected_gene': 'ENSG00000242861', 'score': 550.77}, {'connected_gene': 'ENSG00000255835', 'score': 10.84}, {'connected_gene': 'PYCR2', 'score': 10.84}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'LEFTY2', 'score': 10.81}, {'connected_gene': 'GC01P225813', 'score': 0.29}, {'connected_gene': 'TMEM63A', 'score': 0.28}, {'connected_gene': 'EPHX1', 'score': 0.28}]
chr1 GH01I225469 225469795 225471605 0.46 [{'connected_gene': 'ENSG00000255835', 'score': 10.81}, {'connected_gene': 'PYCR2', 'score': 10.81}, {'connected_gene': 'LEFTY2', 'score': 10.81}, {'connected_gene': 'ENSG00000248322', 'score': 10.81}, {'connected_gene': 'ENAH', 'score': 6.58}, {'connected_gene': 'LBR', 'score': 5.56}, {'connected_gene': 'ENSG00000282418', 'score': 0.44}, {'connected_gene': 'LOC105373110', 'score': 0.44}]
chr1 GH01I225626 225626401 225626600 0.2 [{'connected_gene': 'ENSG00000255835', 'score': 10.12}, {'connected_gene': 'PYCR2', 'score': 10.12}, {'connected_gene': 'LEFTY2', 'score': 10.12}, {'connected_gene': 'ENSG00000248322', 'score': 10.12}, {'connected_gene': 'ENAH', 'score': 0.28}, {'connected_gene': 'LOC105373110', 'score': 0.1}]
chr1 GH01I225627 225627399 225627600 0.83 [{'connected_gene': 'ENSG00000255835', 'score': 10.12}, {'connected_gene': 'PYCR2', 'score': 10.12}, {'connected_gene': 'LEFTY2', 'score': 10.12}, {'connected_gene': 'ENSG00000248322', 'score': 10.12}, {'connected_gene': 'ENAH', 'score': 0.29}, {'connected_gene': 'LOC105373110', 'score': 0.1}]
chr1 GH01I225766 225766369 225770027 1.78 [{'connected_gene': 'ENSG00000255835', 'score': 10.54}, {'connected_gene': 'PYCR2', 'score': 10.54}, {'connected_gene': 'ENSG00000248322', 'score': 10.54}, {'connected_gene': 'LEFTY2', 'score': 10.53}, {'connected_gene': 'LEFTY1', 'score': 10.45}, {'connected_gene': 'LBR', 'score': 10.19}, {'connected_gene': 'ENAH', 'score': 7.85}, {'connected_gene': 'SRP9', 'score': 0.44}, {'connected_gene': 'RNU6-1304P', 'score': 0.31}]
chr1 GH01I225712 225712201 225712855 0.2 [{'connected_gene': 'ENSG00000255835', 'score': 10.86}, {'connected_gene': 'PYCR2', 'score': 10.86}, {'connected_gene': 'LEFTY2', 'score': 10.86}, {'connected_gene': 'ENSG00000248322', 'score': 10.86}, {'connected_gene': 'LOC102723834', 'score': 0.39}, {'connected_gene': 'GC01M225726', 'score': 0.37}, {'connected_gene': 'ENSG00000226349', 'score': 0.34}]
chr1 GH01I225846 225845726 225850709 1.33 [{'connected_gene': 'ENSG00000242861', 'score': 550.77}, {'connected_gene': 'PYCR2', 'score': 27.06}, {'connected_gene': 'LEFTY1', 'score': 22.7}, {'connected_gene': 'LEFTY2', 'score': 20.45}, {'connected_gene': 'TMEM63A', 'score': 19.48}, {'connected_gene': 'ACBD3', 'score': 12.87}, {'connected_gene': 'ENSG00000255835', 'score': 11.44}, {'connected_gene': 'ENSG00000248322', 'score': 11.43}, {'connected_gene': 'ACBD3-AS1', 'score': 10.38}]
chr1 GH01I225873 225873031 225873920 0.38 [{'connected_gene': 'ENSG00000255835', 'score': 11.53}, {'connected_gene': 'PYCR2', 'score': 11.53}, {'connected_gene': 'LEFTY1', 'score': 11.52}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'LEFTY2', 'score': 11.5}, {'connected_gene': 'TMEM63A', 'score': 0.44}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]
chr1 GH01I225872 225871881 225872030 0.51 [{'connected_gene': 'ENSG00000255835', 'score': 11.53}, {'connected_gene': 'PYCR2', 'score': 11.53}, {'connected_gene': 'LEFTY1', 'score': 11.52}, {'connected_gene': 'LEFTY2', 'score': 11.5}, {'connected_gene': 'ENSG00000248322', 'score': 11.5}, {'connected_gene': 'TMEM63A', 'score': 0.39}, {'connected_gene': 'ENSG00000242861', 'score': 0.31}]