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
ENST00000269349 [[78109012, 78109305], [78109802, 78109930], [78110026, 78110134], [78111184, 78111300], [78111940, 78112079], [78112819, 78112961], [78113468, 78113549], [78113806, 78113939], [78115117, 78115180], [78115580, 78115647], [78117970, 78118043], [78120591, 78120982]] [[78109288, 78109305], [78109802, 78109930], [78110026, 78110134], [78111184, 78111300], [78111940, 78112079], [78112819, 78112961], [78113468, 78113549], [78113806, 78113939], [78115117, 78115180], [78115580, 78115647], [78117970, 78118043], [78120591, 78120760]]
ENST00000576547 [[78113873, 78113939], [78115580, 78115647], [78117970, 78118043], [78120591, 78120938]] [[78113873, 78113939], [78115580, 78115647], [78117970, 78118043], [78120591, 78120760]]
ENST00000575957 [[78115493, 78115647], [78117970, 78118043], [78120591, 78120938]] None
ENST00000575978 [[78109053, 78111300], [78111940, 78113286]] None
ENST00000570625 [[78109062, 78109305], [78109802, 78110121]] None
ENST00000576573 [[78109062, 78109305], [78109802, 78109930], [78110026, 78110134], [78111184, 78111402]] None
ENST00000575668 [[78110601, 78111300], [78111940, 78112072]] None
ENST00000570837 [[78113484, 78113549], [78113806, 78114275]] None
NM_014740 [[78109012, 78109305], [78109802, 78109930], [78110026, 78110134], [78111184, 78111300], [78111940, 78112079], [78112819, 78112961], [78113468, 78113549], [78113806, 78113939], [78115117, 78115180], [78115580, 78115647], [78117970, 78118043], [78120591, 78120982]] [[78109288, 78109305], [78109802, 78109930], [78110026, 78110134], [78111184, 78111300], [78111940, 78112079], [78112819, 78112961], [78113468, 78113549], [78113806, 78113939], [78115117, 78115180], [78115580, 78115647], [78117970, 78118043], [78120591, 78120760]]
Promoter
Chrom Start End Description
chr17 78120861 78120872 CAGE_peak_5_at_EIF4A3_5end
chr17 78120881 78120892 CAGE_peak_4_at_EIF4A3_5end
chr17 78120897 78120913 CAGE_peak_2_at_EIF4A3_5end
chr17 78120917 78120934 CAGE_peak_3_at_EIF4A3_5end
chr17 78120936 78120992 CAGE_peak_1_at_EIF4A3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I080224 80224282 80224635 0.76 [{'connected_gene': 'EIF4A3', 'score': 13.75}, {'connected_gene': 'ENSG00000262580', 'score': 7.26}, {'connected_gene': 'SGSH', 'score': 0.77}, {'connected_gene': 'SLC26A11', 'score': 0.77}, {'connected_gene': 'GC17M080259', 'score': 0.28}, {'connected_gene': 'GC17P080181', 'score': 0.26}]
chr17 GH17I080287 80287923 80290164 0.76 [{'connected_gene': 'EIF4A3', 'score': 11.15}, {'connected_gene': 'RNF213', 'score': 6.64}, {'connected_gene': 'LOC100294362', 'score': 4.77}, {'connected_gene': 'ENSG00000262979', 'score': 0.31}]
chr17 GH17I080294 80294013 80295003 0.31 [{'connected_gene': 'EIF4A3', 'score': 11.33}, {'connected_gene': 'RNF213', 'score': 6.53}, {'connected_gene': 'ENSG00000262979', 'score': 0.34}]
chr17 GH17I079227 79227544 79229231 0.38 [{'connected_gene': 'EIF4A3', 'score': 15.66}, {'connected_gene': 'USP36', 'score': 11.71}, {'connected_gene': 'ENGASE', 'score': 10.79}, {'connected_gene': 'SGSH', 'score': 9.88}, {'connected_gene': 'CANT1', 'score': 9.74}, {'connected_gene': 'PIR62880', 'score': 0.34}, {'connected_gene': 'GC17M079268', 'score': 0.26}, {'connected_gene': 'RBFOX3', 'score': 0.05}]
chr17 GH17I079826 79826188 79826800 1.3 [{'connected_gene': 'EIF4A3', 'score': 17.31}, {'connected_gene': 'CBX8', 'score': 13.32}, {'connected_gene': 'SGSH', 'score': 10.01}, {'connected_gene': 'LINC01977', 'score': 0.77}, {'connected_gene': 'CBX4', 'score': 0.39}]
chr17 GH17I079984 79984528 79995585 2.3 [{'connected_gene': 'EIF4A3', 'score': 25.29}, {'connected_gene': 'CCDC40', 'score': 23.25}, {'connected_gene': 'ENGASE', 'score': 14.06}, {'connected_gene': 'CBX2', 'score': 13.73}, {'connected_gene': 'TBC1D16', 'score': 11.96}, {'connected_gene': 'LOC100294362', 'score': 11.2}, {'connected_gene': 'ENDOV', 'score': 10.82}, {'connected_gene': 'SGSH', 'score': 9.93}, {'connected_gene': 'CANT1', 'score': 9.69}, {'connected_gene': 'ENSG00000262580', 'score': 5.5}, {'connected_gene': 'CBX4', 'score': 3.89}, {'connected_gene': 'CBX8', 'score': 2.16}, {'connected_gene': 'GAA', 'score': 1.26}, {'connected_gene': 'RNF213', 'score': 1.14}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.39}]
chr17 GH17I080018 80018700 80020871 1.04 [{'connected_gene': 'EIF4A3', 'score': 11.14}, {'connected_gene': 'CCDC40', 'score': 8.2}, {'connected_gene': 'GAA', 'score': 4.95}, {'connected_gene': 'ENSG00000261978', 'score': 0.77}, {'connected_gene': 'PIR44772', 'score': 0.39}, {'connected_gene': 'GC17P080013', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.37}]
chr17 GH17I080082 80082354 80083408 0.92 [{'connected_gene': 'EIF4A3', 'score': 11.86}, {'connected_gene': 'GAA', 'score': 11.84}, {'connected_gene': 'CARD14', 'score': 5.19}, {'connected_gene': 'MIR1268B', 'score': 0.37}, {'connected_gene': 'GC17P080040', 'score': 0.26}, {'connected_gene': 'CCDC40', 'score': 0.25}]
chr17 GH17I080068 80068338 80072096 1.13 [{'connected_gene': 'EIF4A3', 'score': 26.37}, {'connected_gene': 'GAA', 'score': 25.87}, {'connected_gene': 'CCDC40', 'score': 20.41}, {'connected_gene': 'TBC1D16', 'score': 12.58}, {'connected_gene': 'CBX2', 'score': 9.87}, {'connected_gene': 'MIR1268B', 'score': 0.31}, {'connected_gene': 'GC17P080040', 'score': 0.31}]
chr17 GH17I080862 80862975 80865826 0.38 [{'connected_gene': 'EIF4A3', 'score': 15.66}, {'connected_gene': 'TEPSIN', 'score': 14.94}, {'connected_gene': 'HGS', 'score': 11.91}, {'connected_gene': 'SLC38A10', 'score': 10.67}, {'connected_gene': 'SGSH', 'score': 9.89}, {'connected_gene': 'FAAP100', 'score': 9.76}, {'connected_gene': 'LOC105371921', 'score': 0.31}, {'connected_gene': 'LOC101928855', 'score': 0.22}, {'connected_gene': 'RPTOR', 'score': 0.06}]
chr17 GH17I080021 80021416 80022210 0.62 [{'connected_gene': 'EIF4A3', 'score': 24.71}, {'connected_gene': 'ENSG00000261978', 'score': 0.77}, {'connected_gene': 'PIR44772', 'score': 0.39}, {'connected_gene': 'GC17P080013', 'score': 0.39}, {'connected_gene': 'TBC1D16', 'score': 0.39}]
chr17 GH17I079905 79905902 79906071 0.94 [{'connected_gene': 'EIF4A3', 'score': 9.83}, {'connected_gene': 'LINC01978', 'score': 0.39}, {'connected_gene': 'GC17M079892', 'score': 0.39}]
chr17 GH17I080207 80207801 80208200 0.31 [{'connected_gene': 'SGSH', 'score': 24.02}, {'connected_gene': 'EIF4A3', 'score': 11.53}, {'connected_gene': 'GAA', 'score': 5.49}, {'connected_gene': 'ENSG00000262580', 'score': 0.77}, {'connected_gene': 'GC17M080212', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.31}, {'connected_gene': 'CARD14', 'score': 0.28}]
chr17 GH17I080252 80252622 80266776 2.87 [{'connected_gene': 'RNF213', 'score': 558.49}, {'connected_gene': 'GC17M080259', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 17.75}, {'connected_gene': 'CHMP6', 'score': 13.86}, {'connected_gene': 'ENSG00000262580', 'score': 11.85}, {'connected_gene': 'CARD14', 'score': 11.72}, {'connected_gene': 'CEP131', 'score': 9.67}, {'connected_gene': 'RPL12P37', 'score': 5.75}, {'connected_gene': 'SLC26A11', 'score': 5.49}, {'connected_gene': 'RBFOX3', 'score': 5.18}, {'connected_gene': 'SGSH', 'score': 3.72}, {'connected_gene': 'GAA', 'score': 2.76}]
chr17 GH17I079391 79391899 79392048 0.72 [{'connected_gene': 'USP36', 'score': 17.5}, {'connected_gene': 'EIF4A3', 'score': 14.78}, {'connected_gene': 'GC17M079381', 'score': 0.77}, {'connected_gene': 'PIR34960', 'score': 0.18}, {'connected_gene': 'RBFOX3', 'score': 0.08}]
chr17 GH17I080544 80544221 80546504 2.1 [{'connected_gene': 'RPTOR', 'score': 558.15}, {'connected_gene': 'ENSG00000262877', 'score': 21.13}, {'connected_gene': 'EIF4A3', 'score': 17.3}, {'connected_gene': 'ACTG1', 'score': 12.87}, {'connected_gene': 'TEPSIN', 'score': 11.88}, {'connected_gene': 'LOC100130370', 'score': 10.41}, {'connected_gene': 'SGSH', 'score': 10.01}, {'connected_gene': 'NPTX1', 'score': 8.54}, {'connected_gene': 'RPL32P31', 'score': 0.77}, {'connected_gene': 'LOC105371922', 'score': 0.26}]
chr17 GH17I079808 79808561 79816578 1.82 [{'connected_gene': 'CBX8', 'score': 15.99}, {'connected_gene': 'EIF4A3', 'score': 15.49}, {'connected_gene': 'CBX2', 'score': 13.41}, {'connected_gene': 'CBX4', 'score': 12.04}, {'connected_gene': 'USP36', 'score': 10.16}, {'connected_gene': 'ENGASE', 'score': 9.73}, {'connected_gene': 'CCDC40', 'score': 4.97}, {'connected_gene': 'PIR54271', 'score': 0.77}, {'connected_gene': 'LOC102723961', 'score': 0.77}]
chr17 GH17I079800 79800292 79802101 1.18 [{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 15.69}, {'connected_gene': 'USP36', 'score': 11.69}, {'connected_gene': 'ENGASE', 'score': 10.72}, {'connected_gene': 'SGSH', 'score': 9.9}, {'connected_gene': 'CANT1', 'score': 9.69}]
chr17 GH17I079996 79996188 79998467 1.11 [{'connected_gene': 'CCDC40', 'score': 6.69}, {'connected_gene': 'EIF4A3', 'score': 5.17}, {'connected_gene': 'ENGASE', 'score': 4.77}, {'connected_gene': 'RNF213', 'score': 4.57}, {'connected_gene': 'GAA', 'score': 3.46}, {'connected_gene': 'CBX4', 'score': 2.59}, {'connected_gene': 'SGSH', 'score': 2.54}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'PIR41919', 'score': 0.44}, {'connected_gene': 'TBC1D16', 'score': 0.28}]
chr17 GH17I080028 80028168 80031655 1.2 [{'connected_gene': 'CCDC40', 'score': 37.58}, {'connected_gene': 'EIF4A3', 'score': 10.64}, {'connected_gene': 'TBC1D16', 'score': 5.89}, {'connected_gene': 'GAA', 'score': 5.73}, {'connected_gene': 'ENSG00000262580', 'score': 5.1}, {'connected_gene': 'ENSG00000261978', 'score': 0.44}]
chr17 GH17I080064 80064091 80064860 1.03 [{'connected_gene': 'CCDC40', 'score': 13.6}, {'connected_gene': 'CARD14', 'score': 11.46}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 5.12}, {'connected_gene': 'GC17P080040', 'score': 0.34}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17 GH17I080378 80378428 80378699 0.23 [{'connected_gene': 'ENDOV', 'score': 11.79}, {'connected_gene': 'CARD14', 'score': 11.12}, {'connected_gene': 'EIF4A3', 'score': 10.86}, {'connected_gene': 'RNF213', 'score': 2.61}, {'connected_gene': 'GAA', 'score': 1.5}, {'connected_gene': 'PIR58967', 'score': 0.77}, {'connected_gene': 'PIR46423', 'score': 0.77}, {'connected_gene': 'LOC100294362', 'score': 0.28}]
chr17 GH17I080109 80109722 80109891 0.46 [{'connected_gene': 'GAA', 'score': 39.52}, {'connected_gene': 'EIF4A3', 'score': 11.91}, {'connected_gene': 'CARD14', 'score': 11.68}, {'connected_gene': 'TBC1D16', 'score': 11.15}, {'connected_gene': 'CCDC40', 'score': 11.15}, {'connected_gene': 'GC17M080103', 'score': 0.77}, {'connected_gene': 'GC17P080128', 'score': 0.37}]
chr17 GH17I080092 80092001 80093407 0.31 [{'connected_gene': 'GAA', 'score': 17.71}, {'connected_gene': 'EIF4A3', 'score': 11.89}, {'connected_gene': 'CARD14', 'score': 11.77}, {'connected_gene': 'ENSG00000262580', 'score': 5.45}, {'connected_gene': 'MIR1268B', 'score': 0.44}, {'connected_gene': 'GC17P080040', 'score': 0.23}, {'connected_gene': 'CCDC40', 'score': 0.22}]
chr17 GH17I080065 80065271 80066380 0.31 [{'connected_gene': 'GAA', 'score': 19.86}, {'connected_gene': 'CARD14', 'score': 11.47}, {'connected_gene': 'EIF4A3', 'score': 11.23}, {'connected_gene': 'TBC1D16', 'score': 6.63}, {'connected_gene': 'GC17P080040', 'score': 0.31}, {'connected_gene': 'CCDC40', 'score': 0.31}, {'connected_gene': 'MIR1268B', 'score': 0.29}]
chr17 GH17I080980 80980378 80982573 1.15 [{'connected_gene': 'TEPSIN', 'score': 32.34}, {'connected_gene': 'EIF4A3', 'score': 28.39}, {'connected_gene': 'CHMP6', 'score': 22.05}, {'connected_gene': 'ALYREF', 'score': 21.73}, {'connected_gene': 'FAAP100', 'score': 16.85}, {'connected_gene': 'HGS', 'score': 13.55}, {'connected_gene': 'ARL16', 'score': 12.92}, {'connected_gene': 'ENSG00000262877', 'score': 11.36}, {'connected_gene': 'LOC100130370', 'score': 10.43}, {'connected_gene': 'AATK', 'score': 10.39}, {'connected_gene': 'SLC38A10', 'score': 10.01}, {'connected_gene': 'LOC400627', 'score': 6.1}, {'connected_gene': 'GC17P080985', 'score': 0.77}, {'connected_gene': 'RPL12P37', 'score': 0.44}]
chr17 GH17I080889 80889117 80893862 1.37 [{'connected_gene': 'LOC105371921', 'score': 550.77}, {'connected_gene': 'TEPSIN', 'score': 26.6}, {'connected_gene': 'EIF4A3', 'score': 25.65}, {'connected_gene': 'FAAP100', 'score': 24.95}, {'connected_gene': 'HGS', 'score': 24.14}, {'connected_gene': 'CHMP6', 'score': 13.93}, {'connected_gene': 'CEP131', 'score': 11.01}, {'connected_gene': 'RPTOR', 'score': 10.48}, {'connected_gene': 'SLC38A10', 'score': 10.43}, {'connected_gene': 'CCDC137', 'score': 9.8}, {'connected_gene': 'NPTX1', 'score': 7.74}, {'connected_gene': 'ACTG1', 'score': 5.95}, {'connected_gene': 'LOC101928855', 'score': 0.17}]
chr17 GH17I081033 81033013 81046524 2.73 [{'connected_gene': 'BAIAP2', 'score': 560.27}, {'connected_gene': 'EIF4A3', 'score': 17.28}, {'connected_gene': 'HGS', 'score': 13.73}, {'connected_gene': 'ACTG1', 'score': 12.89}, {'connected_gene': 'TEPSIN', 'score': 11.94}, {'connected_gene': 'ARHGDIA', 'score': 11.04}, {'connected_gene': 'ALYREF', 'score': 10.57}, {'connected_gene': 'SGSH', 'score': 9.98}, {'connected_gene': 'AATK', 'score': 4.96}, {'connected_gene': 'CHMP6', 'score': 4.84}, {'connected_gene': 'ENSG00000263167', 'score': 4.72}, {'connected_gene': 'LOC400627', 'score': 4.69}, {'connected_gene': 'BAIAP2-AS1', 'score': 0.77}, {'connected_gene': 'PIR38376', 'score': 0.44}, {'connected_gene': 'GC17M081121', 'score': 0.18}]
chr17 GH17I080414 80414105 80416201 2.07 [{'connected_gene': 'LOC100294362', 'score': 556.44}, {'connected_gene': 'ENDOV', 'score': 550.77}, {'connected_gene': 'PIR40280', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 14.77}, {'connected_gene': 'TEPSIN', 'score': 13.45}, {'connected_gene': 'CEP131', 'score': 10.98}]
chr17 GH17I080206 80206714 80207262 0.2 [{'connected_gene': 'ENSG00000262580', 'score': 574.25}, {'connected_gene': 'EIF4A3', 'score': 11.55}, {'connected_gene': 'GC17M080212', 'score': 0.44}, {'connected_gene': 'SGSH', 'score': 0.39}, {'connected_gene': 'GC17P080181', 'score': 0.31}, {'connected_gene': 'CARD14', 'score': 0.28}]
chr17 GH17I080339 80339030 80339909 0.43 [{'connected_gene': 'ENSG00000280248', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 10.84}, {'connected_gene': 'ENSG00000276863', 'score': 0.44}, {'connected_gene': 'RNF213', 'score': 0.18}]
chr17 GH17I080144 80144663 80148488 2.31 [{'connected_gene': 'GC17P080148', 'score': 550.77}, {'connected_gene': 'ENSG00000279259', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 550.77}, {'connected_gene': 'GAA', 'score': 22.31}, {'connected_gene': 'ENSG00000262580', 'score': 4.77}, {'connected_gene': 'GC17P080130', 'score': 0.37}]
chr17 GH17I081017 81017212 81020114 1.96 [{'connected_gene': 'ENSG00000262873', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 28.16}, {'connected_gene': 'TEPSIN', 'score': 25.24}, {'connected_gene': 'FAAP100', 'score': 24.4}, {'connected_gene': 'HGS', 'score': 21.96}, {'connected_gene': 'CHMP6', 'score': 14.68}, {'connected_gene': 'ACTG1', 'score': 12.88}, {'connected_gene': 'CEP131', 'score': 12.55}, {'connected_gene': 'ARL16', 'score': 12.35}, {'connected_gene': 'TSPAN10', 'score': 11.53}, {'connected_gene': 'ARHGDIA', 'score': 11.04}, {'connected_gene': 'LOC100294362', 'score': 10.78}, {'connected_gene': 'ALYREF', 'score': 10.57}, {'connected_gene': 'SLC38A10', 'score': 10.44}, {'connected_gene': 'ENSG00000229848', 'score': 10.33}, {'connected_gene': 'SGSH', 'score': 9.99}, {'connected_gene': 'GC17P081008', 'score': 0.39}]
chr17 GH17I079937 79937001 79938191 1.08 [{'connected_gene': 'GC17M079934', 'score': 550.77}, {'connected_gene': 'PIR34246', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 9.84}, {'connected_gene': 'TBC1D16', 'score': 8.72}]
chr17 GH17I079936 79936642 79936791 0.63 [{'connected_gene': 'GC17M079934', 'score': 550.77}, {'connected_gene': 'PIR34246', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 9.84}, {'connected_gene': 'TBC1D16', 'score': 0.15}]
chr17 GH17I080212 80212544 80213800 0.31 [{'connected_gene': 'GC17M080212', 'score': 550.77}, {'connected_gene': 'SGSH', 'score': 26.72}, {'connected_gene': 'CARD14', 'score': 12.15}, {'connected_gene': 'EIF4A3', 'score': 11.27}, {'connected_gene': 'SLC26A11', 'score': 0.44}, {'connected_gene': 'GC17P080181', 'score': 0.29}]
chr17 GH17I080022 80022855 80027076 1.33 [{'connected_gene': 'ENSG00000261978', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 33.77}, {'connected_gene': 'EIF4A3', 'score': 25.89}, {'connected_gene': 'GAA', 'score': 11.13}, {'connected_gene': 'CHMP6', 'score': 10.27}, {'connected_gene': 'TBC1D16', 'score': 5.49}]
chr17 GH17I080389 80389085 80390328 0.43 [{'connected_gene': 'PIR58548', 'score': 550.77}, {'connected_gene': 'ENDOV', 'score': 11.93}, {'connected_gene': 'EIF4A3', 'score': 10.61}, {'connected_gene': 'LOC100294362', 'score': 5.49}, {'connected_gene': 'PIR54733', 'score': 0.44}, {'connected_gene': 'RNF213', 'score': 0.13}]
chr17 GH17I080453 80453301 80458286 2.05 [{'connected_gene': 'ENSG00000260369', 'score': 550.77}, {'connected_gene': 'CEP131', 'score': 22.43}, {'connected_gene': 'TEPSIN', 'score': 13.64}, {'connected_gene': 'TBC1D16', 'score': 11.47}, {'connected_gene': 'LOC105371925', 'score': 10.61}, {'connected_gene': 'CBX8', 'score': 10.07}, {'connected_gene': 'NPTX1', 'score': 6.54}, {'connected_gene': 'EIF4A3', 'score': 6.4}, {'connected_gene': 'SGSH', 'score': 4.38}, {'connected_gene': 'GAA', 'score': 2.02}, {'connected_gene': 'SLC26A11', 'score': 1.18}, {'connected_gene': 'ENSG00000279273', 'score': 0.44}]

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