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
ENST00000564457 [[20911189, 20911326], [20911450, 20911813]] None
ENST00000568663 [[20911223, 20911326], [20911619, 20911857], [20926877, 20927036], [20931443, 20931536], [20935321, 20935585]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
ENST00000439021 [[20911556, 20911857], [20926877, 20927036], [20931443, 20931536], [20935321, 20936326]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
ENST00000412082 [[20911556, 20911857], [20931443, 20931536], [20935321, 20936326]] [[20935336, 20935438]]
ENST00000567165 [[20911732, 20911857], [20926877, 20927036], [20931443, 20931928], [20932623, 20932785]] [[20926877, 20927036], [20931443, 20931608]]
ENST00000569023 [[20911771, 20911857], [20913807, 20914039], [20922504, 20922586], [20926877, 20927036], [20931443, 20931536], [20935321, 20935438]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
ENST00000568820 [[20911812, 20911857], [20913807, 20914039], [20926877, 20927036], [20931443, 20931996], [20932623, 20933329]] [[20926877, 20927036], [20931443, 20931608]]
ENST00000562740 [[20911987, 20912211], [20913807, 20914039], [20931443, 20931536], [20935321, 20935703]] [[20935336, 20935438]]
ENST00000219168 [[20912074, 20912211], [20913807, 20914039], [20926877, 20927036], [20931443, 20931536], [20935321, 20936326]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
ENST00000567954 [[20912120, 20912211], [20926877, 20927036], [20931443, 20931536], [20935321, 20935438]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
ENST00000396052 [[20912425, 20912511], [20913807, 20914039], [20922504, 20922586], [20926877, 20927036], [20931443, 20931536], [20935321, 20936328]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
NM_020424 [[20911189, 20911326], [20911619, 20911857], [20926877, 20927036], [20931443, 20931536], [20935321, 20936328]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
NR_126520 [[20911619, 20911857], [20931443, 20931536], [20935321, 20936328]] None
NR_126528 [[20911619, 20911857], [20913807, 20914039], [20931443, 20931536], [20935321, 20936328]] None
NM_001302836 [[20911619, 20911857], [20913807, 20914039], [20922504, 20922586], [20926877, 20927036], [20931443, 20931536], [20935321, 20936328]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
NR_126521 [[20911987, 20912211], [20931443, 20931536], [20935321, 20936328]] None
NM_001128302 [[20911987, 20912211], [20926877, 20927036], [20931443, 20931536], [20935321, 20936328]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
NR_126516 [[20911987, 20912211], [20913807, 20914039], [20931443, 20931536], [20935321, 20936328]] None
NM_001128301 [[20911987, 20912211], [20913807, 20914039], [20926877, 20927036], [20931443, 20931536], [20935321, 20936328]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
NR_126527 [[20912394, 20912446], [20931443, 20931536], [20935321, 20936328]] None
NM_001302835 [[20912425, 20912511], [20913807, 20914039], [20922504, 20922586], [20926877, 20927036], [20931443, 20931536], [20935321, 20936328]] [[20926877, 20927036], [20931443, 20931536], [20935321, 20935438]]
Promoter
Chrom Start End Description
chr16 20911174 20911242 CAGE_peak_4_at_LYRM1_5end
chr16 20911722 20911768 CAGE_peak_3_at_LYRM1_5end
chr16 20911854 20911871 CAGE_peak_7_at_LYRM1_5end
chr16 20911978 20911991 CAGE_peak_10_at_LYRM1_5end
chr16 20912007 20912027 CAGE_peak_6_at_LYRM1_5end
chr16 20912031 20912042 CAGE_peak_14_at_LYRM1_5end
chr16 20912079 20912113 CAGE_peak_1_at_LYRM1_5end
chr16 20912114 20912160 CAGE_peak_2_at_LYRM1_5end
chr16 20912356 20912377 CAGE_peak_9_at_LYRM1_5end
chr16 20912382 20912415 CAGE_peak_8_at_LYRM1_5end
chr16 20935518 20935529 CAGE_peak_17_at_LYRM1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr16 GH16I020858 20858921 20863598 0.52 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'LYRM1', 'score': 12.1}, {'connected_gene': 'DCUN1D3', 'score': 12.1}, {'connected_gene': 'THUMPD1', 'score': 11.94}, {'connected_gene': 'TMEM159', 'score': 10.31}, {'connected_gene': 'DNAH3', 'score': 10.31}, {'connected_gene': 'PIR58963', 'score': 0.39}, {'connected_gene': 'GC16P020829', 'score': 0.29}, {'connected_gene': 'ERI2', 'score': 0.28}]
chr16 GH16I020871 20871773 20875655 1.31 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'LYRM1', 'score': 12.68}, {'connected_gene': 'DCUN1D3', 'score': 12.68}, {'connected_gene': 'THUMPD1', 'score': 11.53}, {'connected_gene': 'PIR58963', 'score': 0.34}, {'connected_gene': 'ERI2', 'score': 0.31}, {'connected_gene': 'GC16P020829', 'score': 0.26}]
chr16 GH16I020868 20868647 20871000 1.17 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'LYRM1', 'score': 12.04}, {'connected_gene': 'DCUN1D3', 'score': 12.02}, {'connected_gene': 'PIR58963', 'score': 0.34}, {'connected_gene': 'ERI2', 'score': 0.29}, {'connected_gene': 'GC16P020829', 'score': 0.26}]
chr16 GH16I020883 20883356 20886042 1.11 [{'connected_gene': 'ACSM3', 'score': 14.19}, {'connected_gene': 'TMEM159', 'score': 10.38}, {'connected_gene': 'DNAH3', 'score': 10.38}, {'connected_gene': 'THUMPD1', 'score': 5.67}, {'connected_gene': 'LYRM1', 'score': 0.39}, {'connected_gene': 'ERI2', 'score': 0.37}, {'connected_gene': 'DCUN1D3', 'score': 0.37}, {'connected_gene': 'PIR58963', 'score': 0.28}, {'connected_gene': 'GC16P020829', 'score': 0.22}]
chr16 GH16I020886 20886638 20888857 0.69 [{'connected_gene': 'ACSM3', 'score': 14.99}, {'connected_gene': 'TMEM159', 'score': 9.55}, {'connected_gene': 'DNAH3', 'score': 9.55}, {'connected_gene': 'ERI2', 'score': 0.39}, {'connected_gene': 'LYRM1', 'score': 0.39}, {'connected_gene': 'DCUN1D3', 'score': 0.39}, {'connected_gene': 'PIR58963', 'score': 0.28}, {'connected_gene': 'GC16P020829', 'score': 0.22}]
chr16 GH16I020891 20891085 20892816 0.2 [{'connected_gene': 'ACSM3', 'score': 20.44}, {'connected_gene': 'TMEM159', 'score': 9.55}, {'connected_gene': 'DNAH3', 'score': 9.55}, {'connected_gene': 'ERI2', 'score': 0.44}, {'connected_gene': 'LYRM1', 'score': 0.44}, {'connected_gene': 'DCUN1D3', 'score': 0.44}, {'connected_gene': 'PIR58963', 'score': 0.26}, {'connected_gene': 'GC16P020829', 'score': 0.21}]
chr16 GH16I020864 20864723 20868277 1.52 [{'connected_gene': 'ACSM3', 'score': 15.22}, {'connected_gene': 'THUMPD1', 'score': 12.45}, {'connected_gene': 'LYRM1', 'score': 12.12}, {'connected_gene': 'DCUN1D3', 'score': 12.12}, {'connected_gene': 'TMEM159', 'score': 10.31}, {'connected_gene': 'DNAH3', 'score': 10.31}, {'connected_gene': 'PIR58963', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.29}, {'connected_gene': 'GC16P020829', 'score': 0.28}]
chr16 GH16I020876 20876784 20883078 1.29 [{'connected_gene': 'ACSM3', 'score': 21.31}, {'connected_gene': 'THUMPD1', 'score': 12.95}, {'connected_gene': 'DCUN1D3', 'score': 12.64}, {'connected_gene': 'ACSM1', 'score': 12.52}, {'connected_gene': 'NPIPB3', 'score': 11.42}, {'connected_gene': 'TMEM159', 'score': 10.38}, {'connected_gene': 'DNAH3', 'score': 10.38}, {'connected_gene': 'LYRM1', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.34}, {'connected_gene': 'PIR58963', 'score': 0.29}, {'connected_gene': 'GC16P020829', 'score': 0.23}]
chr16 GH16I020923 20923059 20925101 0.31 [{'connected_gene': 'ACSM3', 'score': 12.13}, {'connected_gene': 'DCUN1D3', 'score': 0.34}, {'connected_gene': 'LYRM1', 'score': 0.31}, {'connected_gene': 'PIR35456', 'score': 0.26}, {'connected_gene': 'GC16P020829', 'score': 0.16}]
chr16 GH16I020843 20843932 20845456 0.43 [{'connected_gene': 'LYRM1', 'score': 11.52}, {'connected_gene': 'DCUN1D3', 'score': 11.51}, {'connected_gene': 'ACSM3', 'score': 8.25}, {'connected_gene': 'PIR58963', 'score': 0.77}, {'connected_gene': 'LOC105371121', 'score': 0.77}, {'connected_gene': 'GC16P020829', 'score': 0.37}, {'connected_gene': 'REXO5', 'score': 0.28}, {'connected_gene': 'ERI2', 'score': 0.22}]
chr16 GH16I020941 20941201 20941400 0.43 [{'connected_gene': 'LYRM1', 'score': 11.86}, {'connected_gene': 'DCUN1D3', 'score': 11.86}, {'connected_gene': 'TMEM159', 'score': 10.35}, {'connected_gene': 'DNAH3', 'score': 10.35}, {'connected_gene': 'PIR35456', 'score': 0.34}]
chr16 GH16I020853 20853057 20853855 0.51 [{'connected_gene': 'LYRM1', 'score': 11.6}, {'connected_gene': 'DCUN1D3', 'score': 11.6}, {'connected_gene': 'DNAH3', 'score': 9.89}, {'connected_gene': 'TMEM159', 'score': 9.89}, {'connected_gene': 'PIR58963', 'score': 0.77}, {'connected_gene': 'GC16P020829', 'score': 0.34}, {'connected_gene': 'ERI2', 'score': 0.25}]
chr16 GH16I020889 20889699 20890512 0.66 [{'connected_gene': 'TMEM159', 'score': 9.55}, {'connected_gene': 'DNAH3', 'score': 9.55}, {'connected_gene': 'ACSM3', 'score': 8.22}, {'connected_gene': 'LYRM1', 'score': 0.44}, {'connected_gene': 'ERI2', 'score': 0.39}, {'connected_gene': 'DCUN1D3', 'score': 0.39}, {'connected_gene': 'PIR58963', 'score': 0.26}, {'connected_gene': 'GC16P020829', 'score': 0.21}]
chr16 GH16I020825 20825079 20826801 0.91 [{'connected_gene': 'THUMPD1', 'score': 11.95}, {'connected_gene': 'ACSM3', 'score': 10.63}, {'connected_gene': 'LYRM1', 'score': 10.57}, {'connected_gene': 'DCUN1D3', 'score': 10.57}, {'connected_gene': 'TMEM159', 'score': 9.93}, {'connected_gene': 'DNAH3', 'score': 9.93}, {'connected_gene': 'GC16P020829', 'score': 0.77}, {'connected_gene': 'ENSG00000275908', 'score': 0.77}, {'connected_gene': 'REXO5', 'score': 0.37}, {'connected_gene': 'ERI2', 'score': 0.19}]
chr16 GH16I020718 20718059 20718449 0.6 [{'connected_gene': 'THUMPD1', 'score': 26.71}, {'connected_gene': 'LYRM1', 'score': 4.48}, {'connected_gene': 'DCUN1D3', 'score': 3.72}, {'connected_gene': 'ENSG00000283399', 'score': 0.44}, {'connected_gene': 'PIR32517', 'score': 0.44}, {'connected_gene': 'LOC100887080', 'score': 0.44}, {'connected_gene': 'LOC105379461', 'score': 0.26}, {'connected_gene': 'ACSM3', 'score': 0.14}]
chr16 GH16I020918 20918408 20919500 1.32 [{'connected_gene': 'THUMPD1', 'score': 19.01}, {'connected_gene': 'NPIPB4', 'score': 15.43}, {'connected_gene': 'NPIPB3', 'score': 14.12}, {'connected_gene': 'SMG1P3', 'score': 12.05}, {'connected_gene': 'RRN3P1', 'score': 11.55}, {'connected_gene': 'ACSM3', 'score': 11.18}, {'connected_gene': 'DNAH3', 'score': 9.5}, {'connected_gene': 'TMEM159', 'score': 9.5}, {'connected_gene': 'DCUN1D3', 'score': 0.37}, {'connected_gene': 'LYRM1', 'score': 0.34}, {'connected_gene': 'PIR35456', 'score': 0.25}, {'connected_gene': 'GC16P020829', 'score': 0.17}]
chr16 GH16I021075 21075800 21077116 0.54 [{'connected_gene': 'DNAH3', 'score': 17.29}, {'connected_gene': 'DCUN1D3', 'score': 17.29}, {'connected_gene': 'LYRM1', 'score': 10.91}, {'connected_gene': 'TMEM159', 'score': 10.84}, {'connected_gene': 'ACSM3', 'score': 7.18}, {'connected_gene': 'ACSM1', 'score': 5.51}, {'connected_gene': 'GC16P021084', 'score': 0.44}, {'connected_gene': 'GC16M021061', 'score': 0.39}]
chr16 GH16I020909 20909738 20915105 1.48 [{'connected_gene': 'DCUN1D3', 'score': 22.84}, {'connected_gene': 'ACSM3', 'score': 13.64}, {'connected_gene': 'TMEM159', 'score': 9.67}, {'connected_gene': 'DNAH3', 'score': 9.67}, {'connected_gene': 'CRYM', 'score': 9.29}, {'connected_gene': 'ACSM1', 'score': 9.13}, {'connected_gene': 'THUMPD1', 'score': 7.74}, {'connected_gene': 'LYRM1', 'score': 6.73}, {'connected_gene': 'PIR35456', 'score': 0.23}, {'connected_gene': 'GC16P020829', 'score': 0.18}]
chr16 GH16I020896 20896928 20908383 2.59 [{'connected_gene': 'DCUN1D3', 'score': 573.77}, {'connected_gene': 'LYRM1', 'score': 557.6}, {'connected_gene': 'THUMPD1', 'score': 24.89}, {'connected_gene': 'ACSM3', 'score': 19.31}, {'connected_gene': 'SMG1P3', 'score': 12.97}, {'connected_gene': 'ACSM1', 'score': 11.83}, {'connected_gene': 'CRYM', 'score': 7.49}, {'connected_gene': 'ERI2', 'score': 0.77}, {'connected_gene': 'PIR35456', 'score': 0.21}, {'connected_gene': 'GC16P020829', 'score': 0.19}]
chr16 GH16I020849 20849601 20852672 1.57 [{'connected_gene': 'PIR58963', 'score': 550.77}, {'connected_gene': 'THUMPD1', 'score': 15.37}, {'connected_gene': 'LYRM1', 'score': 11.77}, {'connected_gene': 'DCUN1D3', 'score': 11.77}, {'connected_gene': 'TMEM159', 'score': 10.4}, {'connected_gene': 'DNAH3', 'score': 10.4}, {'connected_gene': 'GC16P020829', 'score': 0.34}, {'connected_gene': 'REXO5', 'score': 0.26}, {'connected_gene': 'ERI2', 'score': 0.25}]
chr16 GH16I021083 21083900 21084069 0.76 [{'connected_gene': 'GC16P021084', 'score': 550.77}, {'connected_gene': 'ERI2', 'score': 11.76}, {'connected_gene': 'REXO5', 'score': 11.74}, {'connected_gene': 'DCUN1D3', 'score': 11.11}, {'connected_gene': 'LYRM1', 'score': 11.11}, {'connected_gene': 'TMEM159', 'score': 10.9}, {'connected_gene': 'DNAH3', 'score': 10.89}, {'connected_gene': 'GC16M021061', 'score': 0.34}]

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