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
ENST00000459703 [[36708551, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36724021, 36724075], [36725061, 36725158]] None
ENST00000393189 [[36708554, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720810, 36720872], [36724021, 36724075], [36725061, 36725186]] [[36710044, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720810, 36720872], [36724021, 36724054]]
ENST00000244751 [[36708554, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720810, 36720872], [36724021, 36724075], [36730693, 36730769], [36733111, 36733153], [36742737, 36742842], [36746630, 36746734], [36759809, 36759873], [36762366, 36762426], [36765941, 36766018], [36766231, 36766271], [36767743, 36767847], [36789889, 36789936], [36790833, 36790874], [36807058, 36807778]] [[36710044, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720810, 36720872], [36724021, 36724075], [36730693, 36730769], [36733111, 36733153], [36742737, 36742842], [36746630, 36746734], [36759809, 36759873], [36762366, 36762426], [36765941, 36766018], [36766231, 36766271], [36767743, 36767847], [36789889, 36789936], [36790833, 36790874], [36807058, 36807153]]
ENST00000493411 [[36713163, 36713292], [36714172, 36714354], [36715997, 36716044], [36720356, 36720397], [36720810, 36720872], [36724021, 36724075], [36725061, 36725158]] None
NM_001314019 [[36708554, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720356, 36720397], [36720810, 36720872], [36724021, 36724075], [36725061, 36725186]] [[36710044, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714322]]
NM_001314018 [[36708554, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720810, 36720872], [36724021, 36724075], [36725061, 36725186]] [[36710044, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720810, 36720872], [36724021, 36724054]]
NM_001314020 [[36708554, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36724021, 36724075], [36725061, 36725186]] [[36710044, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714322]]
NM_020939 [[36708554, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720810, 36720872], [36724021, 36724075], [36730693, 36730769], [36733111, 36733153], [36742737, 36742842], [36746630, 36746734], [36759809, 36759873], [36762366, 36762426], [36765941, 36766018], [36766231, 36766271], [36767743, 36767847], [36789889, 36789936], [36790833, 36790874], [36807058, 36807220]] [[36710044, 36710263], [36711465, 36711539], [36712044, 36712102], [36712824, 36712927], [36713164, 36713292], [36714172, 36714354], [36715997, 36716044], [36720810, 36720872], [36724021, 36724075], [36730693, 36730769], [36733111, 36733153], [36742737, 36742842], [36746630, 36746734], [36759809, 36759873], [36762366, 36762426], [36765941, 36766018], [36766231, 36766271], [36767743, 36767847], [36789889, 36789936], [36790833, 36790874], [36807058, 36807153]]
NM_001314017 [[36765161, 36765443], [36765941, 36766018], [36766231, 36766271], [36767743, 36767847], [36789889, 36789936], [36790833, 36790874], [36807058, 36807220]] [[36765424, 36765443], [36765941, 36766018], [36766231, 36766271], [36767743, 36767847], [36789889, 36789936], [36790833, 36790874], [36807058, 36807153]]
Promoter
Chrom Start End Description
chr6 36725084 36725094 CAGE_peak_10_at_CPNE5_5end
chr6 36725157 36725188 CAGE_peak_2_at_CPNE5_5end
chr6 36807138 36807165 CAGE_peak_8_at_CPNE5_5end
chr6 36807213 36807231 CAGE_peak_3_at_CPNE5_5end
chr6 36807240 36807269 CAGE_peak_4_at_CPNE5_5end
chr6 36807270 36807282 CAGE_peak_7_at_CPNE5_5end
chr6 36807557 36807562 CAGE_peak_9_at_CPNE5_5end
chr6 36807731 36807742 CAGE_peak_6_at_CPNE5_5end
chr6 36807762 36807812 CAGE_peak_1_at_CPNE5_5end
chr6 36807817 36807828 CAGE_peak_5_at_CPNE5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I036759 36759224 36759413 0.96 [{'connected_gene': 'SRSF3', 'score': 17.98}, {'connected_gene': 'RAB44', 'score': 16.79}, {'connected_gene': 'PPIL1', 'score': 11.25}, {'connected_gene': 'RNU1-88P', 'score': 11.01}, {'connected_gene': 'C6orf89', 'score': 10.7}, {'connected_gene': 'MTCH1', 'score': 10.15}, {'connected_gene': 'PI16', 'score': 9.96}, {'connected_gene': 'MAPK14', 'score': 9.75}, {'connected_gene': 'PIR61108', 'score': 0.44}, {'connected_gene': 'GC06P042406', 'score': 0.44}, {'connected_gene': 'GC06P042405', 'score': 0.44}, {'connected_gene': 'GPR166P', 'score': 0.34}, {'connected_gene': 'CPNE5', 'score': 0.18}]
chr6 GH06I036760 36759001 36759201 0.93 [{'connected_gene': 'SRSF3', 'score': 17.98}, {'connected_gene': 'RNU1-88P', 'score': 11.99}, {'connected_gene': 'RAB44', 'score': 11.8}, {'connected_gene': 'CDKN1A', 'score': 11.48}, {'connected_gene': 'LAP3P2', 'score': 11.48}, {'connected_gene': 'ENSG00000251864', 'score': 11.48}, {'connected_gene': 'PPIL1', 'score': 11.25}, {'connected_gene': 'C6orf89', 'score': 10.7}, {'connected_gene': 'MTCH1', 'score': 10.63}, {'connected_gene': 'FGD2', 'score': 10.37}, {'connected_gene': 'PI16', 'score': 10.15}, {'connected_gene': 'MAPK14', 'score': 9.75}, {'connected_gene': 'GC06P042405', 'score': 0.44}, {'connected_gene': 'PIR61108', 'score': 0.44}, {'connected_gene': 'GC06P042406', 'score': 0.44}, {'connected_gene': 'GPR166P', 'score': 0.34}, {'connected_gene': 'CPNE5', 'score': 0.18}]
chr6 GH06I036776 36776080 36777054 0.38 [{'connected_gene': 'FGD2', 'score': 11.22}, {'connected_gene': 'PPIL1', 'score': 11.14}, {'connected_gene': 'CDKN1A', 'score': 10.99}, {'connected_gene': 'LAP3P2', 'score': 10.99}, {'connected_gene': 'ENSG00000251864', 'score': 10.99}, {'connected_gene': 'RNU1-88P', 'score': 10.93}, {'connected_gene': 'PI16', 'score': 9.53}, {'connected_gene': 'PIR61108', 'score': 0.39}, {'connected_gene': 'GC06P042406', 'score': 0.39}, {'connected_gene': 'GC06P042405', 'score': 0.39}, {'connected_gene': 'GC06P042410', 'score': 0.29}, {'connected_gene': 'CPNE5', 'score': 0.21}]
chr6 GH06I036768 36768507 36770886 1.32 [{'connected_gene': 'FGD2', 'score': 11.21}, {'connected_gene': 'PPIL1', 'score': 11.13}, {'connected_gene': 'CDKN1A', 'score': 11.01}, {'connected_gene': 'LAP3P2', 'score': 11.0}, {'connected_gene': 'ENSG00000251864', 'score': 11.0}, {'connected_gene': 'RNU1-88P', 'score': 10.93}, {'connected_gene': 'PI16', 'score': 9.53}, {'connected_gene': 'RAB44', 'score': 7.73}, {'connected_gene': 'CPNE5', 'score': 4.75}, {'connected_gene': 'MAPK14', 'score': 4.46}, {'connected_gene': 'ETV7', 'score': 1.26}, {'connected_gene': 'PIM1', 'score': 1.26}, {'connected_gene': 'PXT1', 'score': 1.21}, {'connected_gene': 'GC06P042405', 'score': 0.77}, {'connected_gene': 'PIR61108', 'score': 0.77}, {'connected_gene': 'GC06P042406', 'score': 0.77}, {'connected_gene': 'GC06P042410', 'score': 0.28}]
chr6 GH06I036862 36862312 36863344 1.15 [{'connected_gene': 'FGD2', 'score': 10.32}, {'connected_gene': 'MTCH1', 'score': 10.29}, {'connected_gene': 'PPIL1', 'score': 7.36}, {'connected_gene': 'CPNE5', 'score': 6.2}, {'connected_gene': 'C6orf89', 'score': 0.44}, {'connected_gene': 'GC06M038600', 'score': 0.44}]
chr6 GH06I036775 36775614 36775681 0.22 [{'connected_gene': 'CPNE5', 'score': 13.24}, {'connected_gene': 'FGD2', 'score': 11.22}, {'connected_gene': 'PPIL1', 'score': 11.14}, {'connected_gene': 'CDKN1A', 'score': 11.0}, {'connected_gene': 'LAP3P2', 'score': 10.99}, {'connected_gene': 'ENSG00000251864', 'score': 10.99}, {'connected_gene': 'RNU1-88P', 'score': 10.93}, {'connected_gene': 'PI16', 'score': 9.53}, {'connected_gene': 'PIR61108', 'score': 0.44}, {'connected_gene': 'GC06P042406', 'score': 0.44}, {'connected_gene': 'GC06P042405', 'score': 0.44}, {'connected_gene': 'GC06P042410', 'score': 0.29}]
chr6 GH06I036835 36835773 36836904 0.56 [{'connected_gene': 'CPNE5', 'score': 9.89}, {'connected_gene': 'PPIL1', 'score': 9.39}, {'connected_gene': 'C6orf89', 'score': 7.37}, {'connected_gene': 'GC06P042410', 'score': 0.31}]
chr6 GH06I036743 36743339 36744531 0.77 [{'connected_gene': 'CPNE5', 'score': 4.72}, {'connected_gene': 'GPR166P', 'score': 0.44}, {'connected_gene': 'GC06P042406', 'score': 0.34}, {'connected_gene': 'GC06P042405', 'score': 0.34}, {'connected_gene': 'PIR61108', 'score': 0.34}]
chr6 GH06I036346 36346978 36352674 1.65 [{'connected_gene': 'CPNE5', 'score': 1.27}, {'connected_gene': 'PIR35042', 'score': 0.44}, {'connected_gene': 'C6orf222', 'score': 0.39}]
chr6 GH06I036843 36840208 36841498 1.01 [{'connected_gene': 'CPNE5', 'score': 550.77}, {'connected_gene': 'C6orf89', 'score': 16.29}, {'connected_gene': 'PPIL1', 'score': 10.7}, {'connected_gene': 'FGD2', 'score': 10.14}, {'connected_gene': 'GC06M038600', 'score': 0.39}]
chr6 GH06I036839 36839600 36840201 1.81 [{'connected_gene': 'CPNE5', 'score': 550.77}, {'connected_gene': 'C6orf89', 'score': 4.98}, {'connected_gene': 'GC06P042410', 'score': 0.29}]
chr6 GH06I036834 36834653 36835244 0.84 [{'connected_gene': 'CPNE5', 'score': 12.26}, {'connected_gene': 'PI16', 'score': 2.13}, {'connected_gene': 'GC06P042410', 'score': 0.31}]
chr6 GH06I036840 36839434 36839493 1.13 [{'connected_gene': 'CPNE5', 'score': 550.77}, {'connected_gene': 'GC06P042410', 'score': 0.29}]
chr6 GH06I036850 36850001 36850200 0.4 [{'connected_gene': 'PPIL1', 'score': 11.22}, {'connected_gene': 'RAB44', 'score': 11.08}, {'connected_gene': 'MTCH1', 'score': 10.72}, {'connected_gene': 'GC06M038600', 'score': 0.77}, {'connected_gene': 'CPNE5', 'score': 0.39}]
chr6 GH06I036841 36841696 36842399 0.54 [{'connected_gene': 'PPIL1', 'score': 20.31}, {'connected_gene': 'CMTR1', 'score': 11.57}, {'connected_gene': 'C6orf89', 'score': 11.39}, {'connected_gene': 'SRSF3', 'score': 10.46}, {'connected_gene': 'TBC1D22B', 'score': 10.45}, {'connected_gene': 'FGD2', 'score': 10.14}, {'connected_gene': 'CPNE5', 'score': 0.77}, {'connected_gene': 'GC06M038600', 'score': 0.39}]
chr6 GH06I036842 36842573 36843978 0.38 [{'connected_gene': 'PPIL1', 'score': 32.15}, {'connected_gene': 'C6orf89', 'score': 18.13}, {'connected_gene': 'FGD2', 'score': 10.14}, {'connected_gene': 'CPNE5', 'score': 0.77}, {'connected_gene': 'GC06M038600', 'score': 0.39}]
chr6 GH06I036829 36829738 36830871 1.29 [{'connected_gene': 'PPIL1', 'score': 9.17}, {'connected_gene': 'C6orf89', 'score': 7.28}, {'connected_gene': 'CPNE5', 'score': 0.44}, {'connected_gene': 'GC06P042410', 'score': 0.34}]
chr6 GH06I036844 36844062 36846426 0.65 [{'connected_gene': 'PPIL1', 'score': 36.99}, {'connected_gene': 'C6orf89', 'score': 21.04}, {'connected_gene': 'RAB44', 'score': 17.69}, {'connected_gene': 'SRSF3', 'score': 12.47}, {'connected_gene': 'CMTR1', 'score': 11.48}, {'connected_gene': 'BRPF3', 'score': 10.26}, {'connected_gene': 'FGD2', 'score': 10.17}, {'connected_gene': 'RNU1-88P', 'score': 10.11}, {'connected_gene': 'GC06M038600', 'score': 0.44}, {'connected_gene': 'CPNE5', 'score': 0.44}]
chr6 GH06I036848 36848265 36849600 1.33 [{'connected_gene': 'PPIL1', 'score': 27.25}, {'connected_gene': 'C6orf89', 'score': 18.84}, {'connected_gene': 'RAB44', 'score': 11.08}, {'connected_gene': 'MTCH1', 'score': 10.72}, {'connected_gene': 'GC06M038600', 'score': 0.44}, {'connected_gene': 'CPNE5', 'score': 0.44}]
chr6 GH06I036818 36818268 36818615 0.43 [{'connected_gene': 'PPIL1', 'score': 27.69}, {'connected_gene': 'C6orf89', 'score': 11.2}, {'connected_gene': 'MTCH1', 'score': 10.91}, {'connected_gene': 'FGD2', 'score': 10.34}, {'connected_gene': 'CPNE5', 'score': 4.93}, {'connected_gene': 'GC06P042410', 'score': 0.39}]
chr6 GH06I036820 36820272 36829092 1.63 [{'connected_gene': 'PPIL1', 'score': 20.17}, {'connected_gene': 'C6orf89', 'score': 18.66}, {'connected_gene': 'MTCH1', 'score': 11.13}, {'connected_gene': 'COX6A1P2', 'score': 10.82}, {'connected_gene': 'FGD2', 'score': 10.8}, {'connected_gene': 'CPNE5', 'score': 9.69}, {'connected_gene': 'MAPK14', 'score': 5.93}, {'connected_gene': 'GC06P042410', 'score': 0.37}]
chr6 GH06I036739 36739981 36741119 0.74 [{'connected_gene': 'GPR166P', 'score': 0.77}, {'connected_gene': 'GC06P042406', 'score': 0.31}, {'connected_gene': 'GC06P042405', 'score': 0.31}, {'connected_gene': 'PIR61108', 'score': 0.31}, {'connected_gene': 'CPNE5', 'score': 0.15}]
chr6 GH06I036734 36734397 36736745 1.32 [{'connected_gene': 'GPR166P', 'score': 550.77}, {'connected_gene': 'CDKN1A', 'score': 23.7}, {'connected_gene': 'ETV7', 'score': 21.43}, {'connected_gene': 'LAP3P2', 'score': 11.77}, {'connected_gene': 'ENSG00000251864', 'score': 11.77}, {'connected_gene': 'RNU1-88P', 'score': 11.53}, {'connected_gene': 'C6orf89', 'score': 10.81}, {'connected_gene': 'FGD2', 'score': 10.72}, {'connected_gene': 'PPIL1', 'score': 9.95}, {'connected_gene': 'MTCH1', 'score': 9.54}, {'connected_gene': 'CPNE5', 'score': 4.91}, {'connected_gene': 'PIM1', 'score': 1.71}, {'connected_gene': 'KCTD20', 'score': 1.62}, {'connected_gene': 'SRSF3', 'score': 1.56}, {'connected_gene': 'PXT1', 'score': 1.51}, {'connected_gene': 'RAB44', 'score': 0.28}]
chr6 GH06I036745 36745652 36749434 0.59 [{'connected_gene': 'RAB44', 'score': 6.51}, {'connected_gene': 'C6orf89', 'score': 6.47}, {'connected_gene': 'TBC1D22B', 'score': 5.22}, {'connected_gene': 'GPR166P', 'score': 0.39}, {'connected_gene': 'PIR61108', 'score': 0.37}, {'connected_gene': 'GC06P042406', 'score': 0.37}, {'connected_gene': 'GC06P042405', 'score': 0.37}, {'connected_gene': 'CPNE5', 'score': 0.16}]
chr6 GH06I036751 36751852 36758163 1.27 [{'connected_gene': 'RAB44', 'score': 17.94}, {'connected_gene': 'RNU1-88P', 'score': 11.99}, {'connected_gene': 'CDKN1A', 'score': 11.49}, {'connected_gene': 'LAP3P2', 'score': 11.48}, {'connected_gene': 'ENSG00000251864', 'score': 11.48}, {'connected_gene': 'MTCH1', 'score': 10.63}, {'connected_gene': 'FGD2', 'score': 10.37}, {'connected_gene': 'C6orf89', 'score': 10.36}, {'connected_gene': 'TBC1D22B', 'score': 5.19}, {'connected_gene': 'PIR61108', 'score': 0.39}, {'connected_gene': 'GC06P042406', 'score': 0.39}, {'connected_gene': 'GC06P042405', 'score': 0.39}, {'connected_gene': 'GPR166P', 'score': 0.37}, {'connected_gene': 'CPNE5', 'score': 0.18}]
chr6 GH06I036357 36357805 36359250 1.51 [{'connected_gene': 'C6orf222', 'score': 13.3}, {'connected_gene': 'ETV7', 'score': 11.35}, {'connected_gene': 'LOC105375037', 'score': 11.35}, {'connected_gene': 'FGD2', 'score': 10.9}, {'connected_gene': 'MAPK13', 'score': 10.7}, {'connected_gene': 'PXT1', 'score': 10.3}, {'connected_gene': 'KCTD20', 'score': 10.3}, {'connected_gene': 'PNPLA1', 'score': 10.21}, {'connected_gene': 'CPNE5', 'score': 1.35}, {'connected_gene': 'PIR35042', 'score': 0.77}]
chr6 GH06I036906 36906648 36908348 0.8 [{'connected_gene': 'C6orf89', 'score': 22.58}, {'connected_gene': 'PPIL1', 'score': 11.33}, {'connected_gene': 'FGD2', 'score': 10.74}, {'connected_gene': 'RAB44', 'score': 9.93}, {'connected_gene': 'CPNE5', 'score': 8.3}, {'connected_gene': 'PIR40408', 'score': 0.44}, {'connected_gene': 'GC06P041905', 'score': 0.44}, {'connected_gene': 'PIR55478', 'score': 0.39}, {'connected_gene': 'GC06P042128', 'score': 0.39}]
chr6 GH06I036793 36793584 36793733 0.2 [{'connected_gene': 'GC06P042410', 'score': 0.39}, {'connected_gene': 'GC06P042406', 'score': 0.31}, {'connected_gene': 'GC06P042405', 'score': 0.31}, {'connected_gene': 'PIR61108', 'score': 0.31}, {'connected_gene': 'CPNE5', 'score': 0.25}]
chr6 GH06I036780 36780584 36780733 0.72 [{'connected_gene': 'GC06P042406', 'score': 0.39}, {'connected_gene': 'GC06P042405', 'score': 0.39}, {'connected_gene': 'PIR61108', 'score': 0.39}, {'connected_gene': 'GC06P042410', 'score': 0.31}, {'connected_gene': 'CPNE5', 'score': 0.22}]
chr6 GH06I036782 36782904 36783053 0.96 [{'connected_gene': 'GC06P042406', 'score': 0.37}, {'connected_gene': 'GC06P042405', 'score': 0.37}, {'connected_gene': 'PIR61108', 'score': 0.37}, {'connected_gene': 'GC06P042410', 'score': 0.34}, {'connected_gene': 'CPNE5', 'score': 0.22}]
chr6 GH06I036781 36780801 36781400 0.97 [{'connected_gene': 'GC06P042406', 'score': 0.39}, {'connected_gene': 'GC06P042405', 'score': 0.39}, {'connected_gene': 'PIR61108', 'score': 0.39}, {'connected_gene': 'GC06P042410', 'score': 0.31}, {'connected_gene': 'CPNE5', 'score': 0.22}]
chr6 GH06I036778 36778263 36780113 0.31 [{'connected_gene': 'GC06P042406', 'score': 0.39}, {'connected_gene': 'GC06P042405', 'score': 0.39}, {'connected_gene': 'PIR61108', 'score': 0.39}, {'connected_gene': 'GC06P042410', 'score': 0.31}, {'connected_gene': 'CPNE5', 'score': 0.21}]
chr6 GH06I036851 36851001 36854347 1.2 [{'connected_gene': 'GC06M038600', 'score': 550.77}, {'connected_gene': 'PPIL1', 'score': 27.31}, {'connected_gene': 'RAB44', 'score': 11.08}, {'connected_gene': 'MTCH1', 'score': 10.71}, {'connected_gene': 'FGD2', 'score': 10.51}, {'connected_gene': 'CPNE5', 'score': 0.39}]
chr6 GH06I036765 36765800 36766599 1.27 [{'connected_gene': 'PIR61108', 'score': 550.77}, {'connected_gene': 'GC06P042406', 'score': 550.77}, {'connected_gene': 'GC06P042405', 'score': 550.77}, {'connected_gene': 'PPIL1', 'score': 11.23}, {'connected_gene': 'RNU1-88P', 'score': 11.22}, {'connected_gene': 'RAB44', 'score': 11.18}, {'connected_gene': 'C6orf89', 'score': 11.13}, {'connected_gene': 'FGD2', 'score': 11.1}, {'connected_gene': 'MTCH1', 'score': 10.88}, {'connected_gene': 'GPR166P', 'score': 0.31}, {'connected_gene': 'CPNE5', 'score': 0.19}]

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