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
ENST00000252818 [[18390562, 18392432]] [[18391250, 18392294]]
ENST00000600972 [[18390828, 18390854], [18391265, 18391739]] [[18390828, 18390854], [18391265, 18391739]]
NM_001286968 [[18390503, 18392466]] [[18391250, 18392165]]
NM_005354 [[18390503, 18392466]] [[18391250, 18392294]]
Promoter
Chrom Start End Description
chr19 18391593 18391611 CAGE_peak_6_at_JUND_5end
chr19 18391615 18391637 CAGE_peak_5_at_JUND_5end
chr19 18391642 18391645 CAGE_peak_10_at_JUND_5end
chr19 18391652 18391669 CAGE_peak_8_at_JUND_5end
chr19 18391708 18391737 CAGE_peak_7_at_JUND_5end
chr19 18391785 18391792 CAGE_peak_9_at_JUND_5end
chr19 18392236 18392248 CAGE_peak_2_at_JUND_5end
chr19 18392250 18392260 CAGE_peak_4_at_JUND_5end
chr19 18392274 18392286 CAGE_peak_3_at_JUND_5end
chr19 18392422 18392440 CAGE_peak_1_at_JUND_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I018372 18372122 18390078 2.91 [{'connected_gene': 'GDF15', 'score': 562.27}, {'connected_gene': 'NR2C2AP', 'score': 82.56}, {'connected_gene': 'ENSG00000268030', 'score': 76.81}, {'connected_gene': 'UPF1', 'score': 39.45}, {'connected_gene': 'ENSG00000268938', 'score': 34.8}, {'connected_gene': 'MEF2B', 'score': 33.09}, {'connected_gene': 'COLGALT1', 'score': 30.71}, {'connected_gene': 'SUGP2', 'score': 28.19}, {'connected_gene': 'MVB12A', 'score': 24.22}, {'connected_gene': 'IQCN', 'score': 23.33}, {'connected_gene': 'ENSG00000269191', 'score': 20.26}, {'connected_gene': 'TMEM161A', 'score': 18.98}, {'connected_gene': 'KXD1', 'score': 18.9}, {'connected_gene': 'IFI30', 'score': 17.63}, {'connected_gene': 'PGLS', 'score': 11.89}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'MAU2', 'score': 10.26}, {'connected_gene': 'RFXANK', 'score': 9.99}, {'connected_gene': 'ENSG00000269481', 'score': 9.96}, {'connected_gene': 'PGPEP1', 'score': 6.93}, {'connected_gene': 'SSBP4', 'score': 5.2}, {'connected_gene': 'KCNN1', 'score': 5.05}, {'connected_gene': 'LRRC25', 'score': 3.32}, {'connected_gene': 'ARRDC2', 'score': 2.44}, {'connected_gene': 'ELL', 'score': 1.93}, {'connected_gene': 'JUND', 'score': 1.44}, {'connected_gene': 'PDE4C', 'score': 1.39}, {'connected_gene': 'MIR3189', 'score': 0.44}]
chr19 GH19I017336 17336092 17338619 2.35 [{'connected_gene': 'GTPBP3', 'score': 561.72}, {'connected_gene': 'CHERP', 'score': 155.59}, {'connected_gene': 'ENSG00000269578', 'score': 134.62}, {'connected_gene': 'ENSG00000268743', 'score': 85.51}, {'connected_gene': 'IQCN', 'score': 83.91}, {'connected_gene': 'COLGALT1', 'score': 66.83}, {'connected_gene': 'C19orf44', 'score': 66.54}, {'connected_gene': 'SIN3B', 'score': 58.74}, {'connected_gene': 'HAUS8', 'score': 56.73}, {'connected_gene': 'MVB12A', 'score': 46.08}, {'connected_gene': 'ENSG00000268087', 'score': 40.49}, {'connected_gene': 'ENSG00000267904', 'score': 37.5}, {'connected_gene': 'MED26', 'score': 35.43}, {'connected_gene': 'MRPL34', 'score': 23.74}, {'connected_gene': 'PLVAP', 'score': 22.62}, {'connected_gene': 'ENSG00000269044', 'score': 21.23}, {'connected_gene': 'ABHD8', 'score': 20.88}, {'connected_gene': 'SMIM7', 'score': 20.23}, {'connected_gene': 'BST2', 'score': 11.56}, {'connected_gene': 'NR2F6', 'score': 11.24}, {'connected_gene': 'ENSG00000269815', 'score': 11.15}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'JUND', 'score': 10.39}, {'connected_gene': 'ANKLE1', 'score': 6.64}, {'connected_gene': 'ENSG00000269350', 'score': 0.34}]
chr19 GH19I018498 18498424 18510199 1.63 [{'connected_gene': 'ELL', 'score': 21.01}, {'connected_gene': 'SSBP4', 'score': 18.85}, {'connected_gene': 'FKBP8', 'score': 12.6}, {'connected_gene': 'KXD1', 'score': 12.05}, {'connected_gene': 'UBA52', 'score': 11.9}, {'connected_gene': 'REX1BD', 'score': 11.88}, {'connected_gene': 'LRRC25', 'score': 3.53}, {'connected_gene': 'JUND', 'score': 2.65}, {'connected_gene': 'IL12RB1', 'score': 1.55}, {'connected_gene': 'GC19M018475', 'score': 0.31}]
chr19 GH19I018512 18512572 18523049 2.83 [{'connected_gene': 'ELL', 'score': 569.68}, {'connected_gene': 'SSBP4', 'score': 18.89}, {'connected_gene': 'FKBP8', 'score': 14.22}, {'connected_gene': 'LRRC25', 'score': 6.64}, {'connected_gene': 'PGPEP1', 'score': 5.96}, {'connected_gene': 'IL12RB1', 'score': 5.73}, {'connected_gene': 'JUND', 'score': 5.68}, {'connected_gene': 'KXD1', 'score': 4.75}, {'connected_gene': 'UPF1', 'score': 2.54}, {'connected_gene': 'IFI30', 'score': 1.78}, {'connected_gene': 'UBA52', 'score': 1.3}, {'connected_gene': 'KLHL26', 'score': 1.28}, {'connected_gene': 'GC19M018475', 'score': 0.26}]
chr19 GH19I018231 18231713 18233926 1.19 [{'connected_gene': 'IQCN', 'score': 8.69}, {'connected_gene': 'JUND', 'score': 5.2}, {'connected_gene': 'PDE4C', 'score': 0.34}, {'connected_gene': 'LOC729966', 'score': 0.34}, {'connected_gene': 'LOC102725254', 'score': 0.31}]
chr19 GH19I018490 18490815 18491076 0.65 [{'connected_gene': 'UBA52', 'score': 12.38}, {'connected_gene': 'REX1BD', 'score': 11.55}, {'connected_gene': 'IL12RB1', 'score': 6.19}, {'connected_gene': 'JUND', 'score': 5.17}, {'connected_gene': 'ARRDC2', 'score': 3.37}, {'connected_gene': 'KLHL26', 'score': 2.72}, {'connected_gene': 'SSBP4', 'score': 1.69}, {'connected_gene': 'GC19M018475', 'score': 0.39}, {'connected_gene': 'ELL', 'score': 0.29}]
chr19 GH19I018019 18019775 18025420 1.79 [{'connected_gene': 'LOC440514', 'score': 550.77}, {'connected_gene': 'ARRDC2', 'score': 19.41}, {'connected_gene': 'IFI30', 'score': 19.24}, {'connected_gene': 'ENSG00000268030', 'score': 12.34}, {'connected_gene': 'GTPBP3', 'score': 11.35}, {'connected_gene': 'COMP', 'score': 6.12}, {'connected_gene': 'UBA52', 'score': 4.76}, {'connected_gene': 'LRRC25', 'score': 4.62}, {'connected_gene': 'JUND', 'score': 2.54}, {'connected_gene': 'FCHO1', 'score': 2.28}, {'connected_gene': 'MAP1S', 'score': 2.22}, {'connected_gene': 'ELL', 'score': 1.64}, {'connected_gene': 'PDE4C', 'score': 1.46}, {'connected_gene': 'IL12RB1', 'score': 1.45}, {'connected_gene': 'MAST3', 'score': 1.38}, {'connected_gene': 'KCNN1', 'score': 1.26}, {'connected_gene': 'FAM129C', 'score': 1.21}, {'connected_gene': 'PGPEP1', 'score': 1.2}, {'connected_gene': 'LOC646666', 'score': 0.37}]
chr19 GH19I018277 18277429 18283826 2.52 [{'connected_gene': 'JUND', 'score': 555.06}, {'connected_gene': 'MIR3188', 'score': 550.77}, {'connected_gene': 'PIR55689', 'score': 550.77}, {'connected_gene': 'GC19P020223', 'score': 550.77}, {'connected_gene': 'IQCN', 'score': 54.6}, {'connected_gene': 'UPF1', 'score': 48.68}, {'connected_gene': 'ENSG00000268030', 'score': 42.43}, {'connected_gene': 'ENSG00000268938', 'score': 39.18}, {'connected_gene': 'NR2C2AP', 'score': 37.02}, {'connected_gene': 'ENSG00000269191', 'score': 31.06}, {'connected_gene': 'COLGALT1', 'score': 29.43}, {'connected_gene': 'MVB12A', 'score': 23.33}, {'connected_gene': 'MEF2B', 'score': 21.91}, {'connected_gene': 'ELL', 'score': 19.49}, {'connected_gene': 'PDE4C', 'score': 17.21}, {'connected_gene': 'LSM4', 'score': 12.91}, {'connected_gene': 'TMEM161A', 'score': 11.93}, {'connected_gene': 'PGLS', 'score': 11.88}, {'connected_gene': 'MPV17L2', 'score': 11.53}, {'connected_gene': 'GTPBP3', 'score': 10.98}, {'connected_gene': 'RPL18A', 'score': 10.63}, {'connected_gene': 'KXD1', 'score': 10.6}, {'connected_gene': 'SLC27A1', 'score': 4.54}]
chr19 GH19I018315 18315296 18324706 2.57 [{'connected_gene': 'LSM4', 'score': 566.92}, {'connected_gene': 'UPF1', 'score': 27.0}, {'connected_gene': 'ELL', 'score': 22.2}, {'connected_gene': 'IQCN', 'score': 21.62}, {'connected_gene': 'ENSG00000268030', 'score': 18.27}, {'connected_gene': 'ENSG00000268938', 'score': 14.74}, {'connected_gene': 'COLGALT1', 'score': 14.6}, {'connected_gene': 'ENSG00000269191', 'score': 12.22}, {'connected_gene': 'PGPEP1', 'score': 10.28}, {'connected_gene': 'NR2C2AP', 'score': 10.08}, {'connected_gene': 'SUGP2', 'score': 9.94}, {'connected_gene': 'SSBP4', 'score': 7.55}, {'connected_gene': 'LRRC25', 'score': 6.96}, {'connected_gene': 'IFI30', 'score': 5.08}, {'connected_gene': 'JUND', 'score': 4.65}, {'connected_gene': 'ARRDC2', 'score': 2.3}, {'connected_gene': 'JAK3', 'score': 1.74}, {'connected_gene': 'IL12RB1', 'score': 1.67}, {'connected_gene': 'CCDC124', 'score': 1.55}, {'connected_gene': 'LOC105372300', 'score': 0.77}]
chr19 GH19I018698 18698902 18701683 1.66 [{'connected_gene': 'CRTC1', 'score': 6.36}, {'connected_gene': 'CRLF1', 'score': 6.21}, {'connected_gene': 'UBA52', 'score': 4.05}, {'connected_gene': 'FKBP8', 'score': 3.6}, {'connected_gene': 'SLC25A42', 'score': 3.33}, {'connected_gene': 'UPF1', 'score': 1.27}, {'connected_gene': 'JUND', 'score': 1.19}, {'connected_gene': 'GC19P020283', 'score': 0.44}, {'connected_gene': 'GC19M018715', 'score': 0.34}]
chr19 GH19I018492 18492002 18497730 1.51 [{'connected_gene': 'SSBP4', 'score': 18.77}, {'connected_gene': 'ELL', 'score': 12.7}, {'connected_gene': 'FKBP8', 'score': 12.57}, {'connected_gene': 'UBA52', 'score': 12.39}, {'connected_gene': 'CRTC1', 'score': 12.16}, {'connected_gene': 'REX1BD', 'score': 11.62}, {'connected_gene': 'ARRDC2', 'score': 7.61}, {'connected_gene': 'JUND', 'score': 7.52}, {'connected_gene': 'IL12RB1', 'score': 6.56}, {'connected_gene': 'KLHL26', 'score': 2.59}, {'connected_gene': 'IFI30', 'score': 1.76}, {'connected_gene': 'LRRC25', 'score': 1.28}, {'connected_gene': 'UPF1', 'score': 1.28}, {'connected_gene': 'GC19M018475', 'score': 0.37}]
chr19 GH19I018414 18414110 18423279 2.85 [{'connected_gene': 'SSBP4', 'score': 571.64}, {'connected_gene': 'NR2C2AP', 'score': 49.04}, {'connected_gene': 'ENSG00000268030', 'score': 42.71}, {'connected_gene': 'UPF1', 'score': 38.14}, {'connected_gene': 'COLGALT1', 'score': 31.13}, {'connected_gene': 'MAU2', 'score': 30.39}, {'connected_gene': 'ENSG00000268938', 'score': 26.71}, {'connected_gene': 'IQCN', 'score': 23.81}, {'connected_gene': 'ENSG00000269191', 'score': 22.31}, {'connected_gene': 'TMEM161A', 'score': 11.93}, {'connected_gene': 'LRRC25', 'score': 10.72}, {'connected_gene': 'ELL', 'score': 10.71}, {'connected_gene': 'RPL18A', 'score': 10.61}, {'connected_gene': 'MEF2B', 'score': 10.28}, {'connected_gene': 'GATAD2A', 'score': 9.86}, {'connected_gene': 'IFI30', 'score': 8.54}, {'connected_gene': 'IL12RB1', 'score': 6.17}, {'connected_gene': 'PGPEP1', 'score': 4.69}, {'connected_gene': 'JUND', 'score': 3.58}, {'connected_gene': 'ARRDC2', 'score': 2.77}, {'connected_gene': 'ISYNA1', 'score': 2.33}, {'connected_gene': 'KLHL26', 'score': 2.26}, {'connected_gene': 'REX1BD', 'score': 2.08}, {'connected_gene': 'CRLF1', 'score': 1.82}, {'connected_gene': 'KXD1', 'score': 1.79}, {'connected_gene': 'KCNN1', 'score': 1.78}, {'connected_gene': 'LSM4', 'score': 1.58}, {'connected_gene': 'UBA52', 'score': 1.37}, {'connected_gene': 'CCDC124', 'score': 1.21}, {'connected_gene': 'PIR41821', 'score': 0.77}, {'connected_gene': 'PIR44614', 'score': 0.37}, {'connected_gene': 'GC19M018436', 'score': 0.37}]
chr19 GH19I018289 18289167 18295305 1.86 [{'connected_gene': 'NR2C2AP', 'score': 74.06}, {'connected_gene': 'ENSG00000268030', 'score': 70.16}, {'connected_gene': 'IQCN', 'score': 52.86}, {'connected_gene': 'SUGP2', 'score': 50.82}, {'connected_gene': 'UPF1', 'score': 46.14}, {'connected_gene': 'COLGALT1', 'score': 38.67}, {'connected_gene': 'ENSG00000268938', 'score': 36.46}, {'connected_gene': 'MVB12A', 'score': 29.85}, {'connected_gene': 'MEF2B', 'score': 28.66}, {'connected_gene': 'ENSG00000269191', 'score': 24.27}, {'connected_gene': 'GTPBP3', 'score': 22.9}, {'connected_gene': 'ELL', 'score': 21.85}, {'connected_gene': 'LOC100507551', 'score': 19.66}, {'connected_gene': 'RPL18A', 'score': 19.4}, {'connected_gene': 'JUND', 'score': 12.78}, {'connected_gene': 'IFI30', 'score': 12.73}, {'connected_gene': 'UBA52', 'score': 11.73}, {'connected_gene': 'TMEM161A', 'score': 11.06}, {'connected_gene': 'ENSG00000269815', 'score': 10.91}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'ENSG00000269481', 'score': 9.97}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'IL12RB1', 'score': 7.16}, {'connected_gene': 'ARRDC2', 'score': 5.99}, {'connected_gene': 'JAK3', 'score': 4.94}, {'connected_gene': 'RAB3A', 'score': 4.8}, {'connected_gene': 'LRRC25', 'score': 4.05}, {'connected_gene': 'KCNN1', 'score': 2.58}, {'connected_gene': 'KLHL26', 'score': 2.35}, {'connected_gene': 'PGPEP1', 'score': 2.12}, {'connected_gene': 'REX1BD', 'score': 1.39}, {'connected_gene': 'SSBP4', 'score': 1.31}, {'connected_gene': 'CRTC1', 'score': 1.28}, {'connected_gene': 'MAST3', 'score': 1.21}, {'connected_gene': 'GC19P020225', 'score': 0.77}, {'connected_gene': 'RPL39P38', 'score': 0.44}]
chr19 GH19I018012 18012894 18019599 1.61 [{'connected_gene': 'IFI30', 'score': 13.75}, {'connected_gene': 'ARRDC2', 'score': 9.91}, {'connected_gene': 'JAK3', 'score': 5.84}, {'connected_gene': 'COMP', 'score': 5.22}, {'connected_gene': 'JUND', 'score': 4.61}, {'connected_gene': 'FCHO1', 'score': 4.24}, {'connected_gene': 'IL12RB1', 'score': 3.99}, {'connected_gene': 'LRRC25', 'score': 2.29}, {'connected_gene': 'MAP1S', 'score': 1.51}, {'connected_gene': 'ENSG00000279172', 'score': 0.44}, {'connected_gene': 'LOC440514', 'score': 0.44}]
chr19 GH19I017909 17909020 17909961 0.31 [{'connected_gene': 'B3GNT3', 'score': 10.58}, {'connected_gene': 'JUND', 'score': 5.09}, {'connected_gene': 'CCDC124', 'score': 0.34}, {'connected_gene': 'ENSG00000279617', 'score': 0.28}]
chr19 GH19I018043 18043716 18046867 1.65 [{'connected_gene': 'SUGP2', 'score': 11.49}, {'connected_gene': 'ARRDC2', 'score': 8.41}, {'connected_gene': 'IFI30', 'score': 5.0}, {'connected_gene': 'JUND', 'score': 4.74}, {'connected_gene': 'RPS18P13', 'score': 0.77}, {'connected_gene': 'GC19P020227', 'score': 0.77}]
chr19 GH19I018300 18300390 18308620 1.84 [{'connected_gene': 'ENSG00000268030', 'score': 38.41}, {'connected_gene': 'UPF1', 'score': 37.84}, {'connected_gene': 'IQCN', 'score': 35.08}, {'connected_gene': 'ENSG00000268938', 'score': 26.94}, {'connected_gene': 'NR2C2AP', 'score': 23.89}, {'connected_gene': 'MEF2B', 'score': 18.54}, {'connected_gene': 'JUND', 'score': 18.24}, {'connected_gene': 'LSM4', 'score': 17.0}, {'connected_gene': 'COLGALT1', 'score': 15.47}, {'connected_gene': 'ENSG00000269191', 'score': 15.12}, {'connected_gene': 'MVB12A', 'score': 11.09}, {'connected_gene': 'IFI30', 'score': 10.88}, {'connected_gene': 'DDX49', 'score': 10.69}, {'connected_gene': 'ELL', 'score': 10.59}, {'connected_gene': 'PGPEP1', 'score': 10.33}, {'connected_gene': 'IL12RB1', 'score': 10.25}, {'connected_gene': 'GTPBP3', 'score': 10.01}, {'connected_gene': 'ENSG00000269481', 'score': 9.96}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'ARRDC2', 'score': 9.26}, {'connected_gene': 'SSBP4', 'score': 8.01}, {'connected_gene': 'JAK3', 'score': 4.27}, {'connected_gene': 'KLHL26', 'score': 3.4}, {'connected_gene': 'KCNN1', 'score': 1.58}, {'connected_gene': 'REX1BD', 'score': 1.12}, {'connected_gene': 'PIR51292', 'score': 0.44}, {'connected_gene': 'GC19P020234', 'score': 0.44}]
chr19 GH19I018472 18472977 18481632 1.73 [{'connected_gene': 'GC19M018475', 'score': 550.77}, {'connected_gene': 'SSBP4', 'score': 18.85}, {'connected_gene': 'IFI30', 'score': 17.61}, {'connected_gene': 'NR2C2AP', 'score': 15.0}, {'connected_gene': 'ELL', 'score': 14.44}, {'connected_gene': 'ENSG00000268030', 'score': 12.49}, {'connected_gene': 'TMEM161A', 'score': 10.71}, {'connected_gene': 'IL12RB1', 'score': 7.5}, {'connected_gene': 'JUND', 'score': 6.88}, {'connected_gene': 'LRRC25', 'score': 5.64}, {'connected_gene': 'ARRDC2', 'score': 4.82}, {'connected_gene': 'KLHL26', 'score': 3.06}, {'connected_gene': 'UPF1', 'score': 1.39}]
chr19 GH19I018468 18468334 18470907 1.32 [{'connected_gene': 'ENSG00000268030', 'score': 16.25}, {'connected_gene': 'NR2C2AP', 'score': 16.01}, {'connected_gene': 'UPF1', 'score': 14.24}, {'connected_gene': 'RPL18A', 'score': 12.17}, {'connected_gene': 'SSBP4', 'score': 11.92}, {'connected_gene': 'COLGALT1', 'score': 11.9}, {'connected_gene': 'ENSG00000268938', 'score': 11.3}, {'connected_gene': 'TMEM161A', 'score': 11.15}, {'connected_gene': 'MAU2', 'score': 10.34}, {'connected_gene': 'ENSG00000269191', 'score': 10.17}, {'connected_gene': 'ELL', 'score': 3.12}, {'connected_gene': 'JUND', 'score': 2.51}, {'connected_gene': 'ARRDC2', 'score': 2.2}, {'connected_gene': 'IL12RB1', 'score': 1.41}, {'connected_gene': 'GC19M018475', 'score': 0.44}, {'connected_gene': 'ENSG00000280121', 'score': 0.34}]

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