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
ENST00000272134 [[226073981, 226074790], [226075098, 226075338], [226075485, 226075732], [226076516, 226076846]] [[226074426, 226074790], [226075098, 226075338], [226075485, 226075732], [226076516, 226076766]]
ENST00000492457 [[226075484, 226075732], [226098818, 226099082]] None
NM_020997 [[226073981, 226074790], [226075098, 226075338], [226075485, 226075732], [226076516, 226076846]] [[226074426, 226074790], [226075098, 226075338], [226075485, 226075732], [226076516, 226076766]]
Promoter
Chrom Start End Description
chr1 226076843 226076847 CAGE_peak_2_at_LEFTY1_5end
chr1 226111929 226112026 CAGE_peak_1_at_LEFTY1_5end,CAGE_peak_1_at_PYCR2_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 GH01I226201 226201090 226201204 0.53 [{'connected_gene': 'MIXL1', 'score': 12.74}, {'connected_gene': 'ACBD3-AS1', 'score': 11.45}, {'connected_gene': 'LIN9', 'score': 10.59}, {'connected_gene': 'PARP1', 'score': 10.03}, {'connected_gene': 'LEFTY1', 'score': 1.69}, {'connected_gene': 'GC01M226196', 'score': 0.77}, {'connected_gene': 'LOC101927247', 'score': 0.39}]
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 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 GH01I225776 225776129 225780367 2.12 [{'connected_gene': 'SRP9', 'score': 550.77}, {'connected_gene': 'ACBD3', 'score': 51.82}, {'connected_gene': 'ACBD3-AS1', 'score': 48.48}, {'connected_gene': 'LINC01703', 'score': 11.56}, {'connected_gene': 'LOC105373110', 'score': 10.74}, {'connected_gene': 'H3F3A', 'score': 10.69}, {'connected_gene': 'LEFTY1', 'score': 10.62}, {'connected_gene': 'LEFTY3', 'score': 7.44}, {'connected_gene': 'EPHX1', 'score': 5.68}]
chr1 GH01I225927 225927554 225929666 1.42 [{'connected_gene': 'ACBD3', 'score': 22.55}, {'connected_gene': 'ACBD3-AS1', 'score': 21.1}, {'connected_gene': 'LOC105373110', 'score': 10.88}, {'connected_gene': 'LEFTY1', 'score': 6.78}, {'connected_gene': 'PYCR2', 'score': 6.13}, {'connected_gene': 'ENSG00000248322', 'score': 0.44}]
chr1 GH01I225770 225770519 225775191 1.41 [{'connected_gene': 'ACBD3', 'score': 20.77}, {'connected_gene': 'LEFTY1', 'score': 10.94}, {'connected_gene': 'ACBD3-AS1', 'score': 10.37}, {'connected_gene': 'ENAH', 'score': 6.7}, {'connected_gene': 'SRP9', 'score': 0.77}, {'connected_gene': 'RNU6-1304P', 'score': 0.29}]
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 GH01I225908 225908283 225908975 0.46 [{'connected_gene': 'PYCR2', 'score': 21.26}, {'connected_gene': 'LEFTY1', 'score': 0.77}, {'connected_gene': 'ENSG00000255835', 'score': 0.37}, {'connected_gene': 'TMEM63A', 'score': 0.31}]
chr1 GH01I225921 225921796 225925481 2.3 [{'connected_gene': 'PYCR2', 'score': 576.74}, {'connected_gene': 'ENSG00000255835', 'score': 550.77}, {'connected_gene': 'MIR6741', 'score': 550.77}, {'connected_gene': 'ACBD3', 'score': 33.9}, {'connected_gene': 'ENAH', 'score': 12.24}, {'connected_gene': 'SDE2', 'score': 11.86}, {'connected_gene': 'LINC01703', 'score': 11.2}, {'connected_gene': 'ACBD3-AS1', 'score': 10.38}, {'connected_gene': 'LEFTY1', 'score': 6.81}]
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 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 GH01I225930 225930815 225932211 0.86 [{'connected_gene': 'LEFTY1', 'score': 6.75}, {'connected_gene': 'PYCR2', 'score': 5.22}, {'connected_gene': 'ENSG00000248322', 'score': 0.44}]
chr1 GH01I225835 225835860 225836386 0.63 [{'connected_gene': 'LEFTY1', 'score': 5.22}, {'connected_gene': 'ENSG00000242861', 'score': 0.39}, {'connected_gene': 'GC01P225813', 'score': 0.34}, {'connected_gene': 'EPHX1', 'score': 0.31}]
chr1 GH01I225910 225910868 225912071 1.11 [{'connected_gene': 'LEFTY1', 'score': 550.77}, {'connected_gene': 'ACBD3-AS1', 'score': 12.06}, {'connected_gene': 'ACBD3', 'score': 11.16}, {'connected_gene': 'PIR53448', 'score': 0.44}, {'connected_gene': 'ENSG00000255835', 'score': 0.39}]
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 GH01I225919 225919549 225920761 0.82 [{'connected_gene': 'MIR6741', 'score': 550.77}, {'connected_gene': 'LEFTY1', 'score': 9.88}, {'connected_gene': 'PYCR2', 'score': 8.95}, {'connected_gene': 'ENSG00000255835', 'score': 0.77}, {'connected_gene': 'PIR53448', 'score': 0.77}]
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 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 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}]
chr1 GH01I225916 225916634 225918198 0.89 [{'connected_gene': 'PIR53448', 'score': 550.77}, {'connected_gene': 'ENSG00000255835', 'score': 0.44}, {'connected_gene': 'LEFTY1', 'score': 0.44}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.