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
ENST00000252603 [[17622437, 17622769], [17626981, 17627089], [17628096, 17628198], [17628518, 17628659], [17631752, 17632097]] [[17622481, 17622769], [17626981, 17627089], [17628096, 17628198], [17628518, 17628659], [17631752, 17631890]]
ENST00000594761 [[17622444, 17622769], [17626981, 17627089], [17627179, 17627283], [17628096, 17628198], [17628518, 17628659], [17631752, 17631852]] [[17622481, 17622769], [17626981, 17627089], [17627179, 17627283], [17628096, 17628136]]
ENST00000596799 [[17622452, 17624053]] None
ENST00000600923 [[17622478, 17622769], [17623753, 17623777], [17626981, 17627089], [17628096, 17628198], [17628518, 17628644]] [[17622481, 17622769], [17623753, 17623777], [17626981, 17627089], [17628096, 17628198], [17628518, 17628644]]
ENST00000595782 [[17622673, 17622769], [17626981, 17627089], [17628096, 17628198], [17631752, 17632097]] [[17622673, 17622769], [17626981, 17627089], [17628096, 17628198], [17631752, 17631890]]
ENST00000598811 [[17626550, 17627089], [17628096, 17628198], [17628518, 17628659], [17631752, 17631839]] None
NM_012088 [[17622431, 17622769], [17626981, 17627089], [17628096, 17628198], [17628518, 17628659], [17631752, 17632097]] [[17622481, 17622769], [17626981, 17627089], [17628096, 17628198], [17628518, 17628659], [17631752, 17631890]]
Promoter
Chrom Start End Description
chr19 17622415 17622481 CAGE_peak_1_at_PGLS_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 GH19I017403 17403058 17408075 2.22 [{'connected_gene': 'MVB12A', 'score': 590.85}, {'connected_gene': 'BISPR', 'score': 566.6}, {'connected_gene': 'BST2', 'score': 559.95}, {'connected_gene': 'ENSG00000267904', 'score': 29.5}, {'connected_gene': 'ENSG00000268087', 'score': 28.53}, {'connected_gene': 'CHERP', 'score': 26.81}, {'connected_gene': 'C19orf44', 'score': 24.38}, {'connected_gene': 'ENSG00000269578', 'score': 22.8}, {'connected_gene': 'ENSG00000268743', 'score': 12.96}, {'connected_gene': 'SMIM7', 'score': 12.86}, {'connected_gene': 'ENSG00000269427', 'score': 12.38}, {'connected_gene': 'PGLS', 'score': 12.0}, {'connected_gene': 'GTPBP3', 'score': 11.81}, {'connected_gene': 'COLGALT1', 'score': 10.69}, {'connected_gene': 'SIN3B', 'score': 4.97}, {'connected_gene': 'CCDC194', 'score': 0.39}, {'connected_gene': 'LOC105372343', 'score': 0.39}, {'connected_gene': 'GC19P020268', 'score': 0.28}]
chr19 GH19I017133 17133402 17137689 1.64 [{'connected_gene': 'C19orf44', 'score': 4.64}, {'connected_gene': 'MYO9B', 'score': 3.87}, {'connected_gene': 'SLC27A1', 'score': 1.86}, {'connected_gene': 'OCEL1', 'score': 1.64}, {'connected_gene': 'PGLS', 'score': 1.52}, {'connected_gene': 'GC19M017123', 'score': 0.44}, {'connected_gene': 'ENSG00000268056', 'score': 0.29}]
chr19 GH19I017552 17552634 17557081 2.36 [{'connected_gene': 'COLGALT1', 'score': 575.84}, {'connected_gene': 'ENSG00000269578', 'score': 42.85}, {'connected_gene': 'ENSG00000267904', 'score': 33.48}, {'connected_gene': 'ENSG00000268087', 'score': 33.44}, {'connected_gene': 'MVB12A', 'score': 31.4}, {'connected_gene': 'ENSG00000268938', 'score': 26.89}, {'connected_gene': 'ENSG00000268743', 'score': 26.8}, {'connected_gene': 'GTPBP3', 'score': 22.56}, {'connected_gene': 'IQCN', 'score': 20.92}, {'connected_gene': 'ENSG00000269191', 'score': 15.07}, {'connected_gene': 'PGLS', 'score': 14.12}, {'connected_gene': 'FAM129C', 'score': 12.68}, {'connected_gene': 'HAUS8', 'score': 12.46}, {'connected_gene': 'BST2', 'score': 11.19}, {'connected_gene': 'PLVAP', 'score': 11.1}, {'connected_gene': 'RPL18A', 'score': 10.53}, {'connected_gene': 'ELL', 'score': 10.26}, {'connected_gene': 'PGPEP1', 'score': 5.55}, {'connected_gene': 'SLC27A1', 'score': 4.5}, {'connected_gene': 'MAP1S', 'score': 1.97}, {'connected_gene': 'ARRDC2', 'score': 1.59}, {'connected_gene': 'MYO9B', 'score': 1.45}, {'connected_gene': 'GC19M017549', 'score': 0.44}]
chr19 GH19I017225 17225432 17228194 2.27 [{'connected_gene': 'OCEL1', 'score': 597.41}, {'connected_gene': 'MVB12A', 'score': 12.6}, {'connected_gene': 'PGLS', 'score': 11.92}, {'connected_gene': 'ENSG00000269578', 'score': 11.2}, {'connected_gene': 'ENSG00000268087', 'score': 10.82}, {'connected_gene': 'COLGALT1', 'score': 10.64}, {'connected_gene': 'USE1', 'score': 5.37}, {'connected_gene': 'ANKLE1', 'score': 4.52}, {'connected_gene': 'GC19M017243', 'score': 0.37}]
chr19 GH19I017214 17214422 17216612 2.08 [{'connected_gene': 'USE1', 'score': 557.47}, {'connected_gene': 'OCEL1', 'score': 15.26}, {'connected_gene': 'MVB12A', 'score': 12.59}, {'connected_gene': 'PGLS', 'score': 11.92}, {'connected_gene': 'ENSG00000269578', 'score': 11.2}, {'connected_gene': 'ENSG00000268087', 'score': 10.82}, {'connected_gene': 'COLGALT1', 'score': 10.64}, {'connected_gene': 'IL12RB1', 'score': 4.95}, {'connected_gene': 'MYO9B', 'score': 0.12}]
chr19 GH19I017859 17859152 17866492 2.09 [{'connected_gene': 'RPL18A', 'score': 588.86}, {'connected_gene': 'GC19P020083', 'score': 550.77}, {'connected_gene': 'GC19P020207', 'score': 550.77}, {'connected_gene': 'GC19P019761', 'score': 550.77}, {'connected_gene': 'GC19P020222', 'score': 550.77}, {'connected_gene': 'SNORA68', 'score': 550.77}, {'connected_gene': 'PIR61491', 'score': 550.77}, {'connected_gene': 'GC19P019917', 'score': 550.77}, {'connected_gene': 'PIR54406', 'score': 550.77}, {'connected_gene': 'ENSG00000268030', 'score': 75.67}, {'connected_gene': 'UPF1', 'score': 64.64}, {'connected_gene': 'ENSG00000268938', 'score': 56.19}, {'connected_gene': 'IQCN', 'score': 42.92}, {'connected_gene': 'MVB12A', 'score': 41.75}, {'connected_gene': 'HAUS8', 'score': 41.11}, {'connected_gene': 'ENSG00000269191', 'score': 40.88}, {'connected_gene': 'COLGALT1', 'score': 35.0}, {'connected_gene': 'GTPBP3', 'score': 21.95}, {'connected_gene': 'ELL', 'score': 20.21}, {'connected_gene': 'KXD1', 'score': 19.38}, {'connected_gene': 'PGLS', 'score': 11.91}, {'connected_gene': 'LOC100507551', 'score': 11.09}, {'connected_gene': 'ENSG00000269815', 'score': 10.92}, {'connected_gene': 'UBA52', 'score': 10.6}, {'connected_gene': 'ENSG00000269481', 'score': 9.98}, {'connected_gene': 'GC19P019981', 'score': 0.77}, {'connected_gene': 'GC19P019896', 'score': 0.77}, {'connected_gene': 'GC19P020093', 'score': 0.77}, {'connected_gene': 'GC19P019840', 'score': 0.77}]
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 GH19I017507 17507202 17513085 2.52 [{'connected_gene': 'PGLS', 'score': 559.72}, {'connected_gene': 'PIR43275', 'score': 550.77}, {'connected_gene': 'LOC100507551', 'score': 550.77}, {'connected_gene': 'IQCN', 'score': 33.71}, {'connected_gene': 'MED26', 'score': 26.42}, {'connected_gene': 'ENSG00000269578', 'score': 21.66}, {'connected_gene': 'CHERP', 'score': 20.78}, {'connected_gene': 'HAUS8', 'score': 20.6}, {'connected_gene': 'ENSG00000269427', 'score': 13.64}, {'connected_gene': 'SIN3B', 'score': 13.34}, {'connected_gene': 'ENSG00000269044', 'score': 12.58}, {'connected_gene': 'SMIM7', 'score': 12.02}, {'connected_gene': 'ENSG00000268743', 'score': 10.21}, {'connected_gene': 'ENSG00000269481', 'score': 10.11}]
chr19 GH19I017504 17504134 17506358 0.54 [{'connected_gene': 'PGLS', 'score': 9.08}, {'connected_gene': 'PIR43275', 'score': 0.77}, {'connected_gene': 'LOC100507551', 'score': 0.44}, {'connected_gene': 'SLC27A1', 'score': 0.28}]
chr19 GH19I017513 17513801 17514001 0.63 [{'connected_gene': 'PGLS', 'score': 7.59}, {'connected_gene': 'LOC100507551', 'score': 0.77}, {'connected_gene': 'ENSG00000269161', 'score': 0.44}]
chr19 GH19I017561 17561201 17561722 0.51 [{'connected_gene': 'FAM129C', 'score': 12.67}, {'connected_gene': 'PGLS', 'score': 12.64}, {'connected_gene': 'MVB12A', 'score': 11.18}, {'connected_gene': 'BST2', 'score': 11.18}, {'connected_gene': 'PLVAP', 'score': 11.09}, {'connected_gene': 'COLGALT1', 'score': 0.44}, {'connected_gene': 'GC19M017590', 'score': 0.31}]
chr19 GH19I017522 17522332 17524370 1.55 [{'connected_gene': 'FAM129C', 'score': 550.77}, {'connected_gene': 'CHERP', 'score': 12.71}, {'connected_gene': 'COLGALT1', 'score': 12.62}, {'connected_gene': 'ENSG00000269578', 'score': 11.79}, {'connected_gene': 'PGLS', 'score': 10.72}, {'connected_gene': 'ENSG00000268743', 'score': 10.39}, {'connected_gene': 'GC19M017549', 'score': 0.34}]
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 GH19I018168 18168220 18175625 2.06 [{'connected_gene': 'IFI30', 'score': 565.41}, {'connected_gene': 'MPV17L2', 'score': 19.61}, {'connected_gene': 'LRRC25', 'score': 15.64}, {'connected_gene': 'ENSG00000268938', 'score': 14.47}, {'connected_gene': 'MEF2B', 'score': 13.41}, {'connected_gene': 'MVB12A', 'score': 12.53}, {'connected_gene': 'ENSG00000268030', 'score': 12.38}, {'connected_gene': 'PGLS', 'score': 11.89}, {'connected_gene': 'UPF1', 'score': 10.74}, {'connected_gene': 'ENSG00000269191', 'score': 10.63}, {'connected_gene': 'COLGALT1', 'score': 10.62}, {'connected_gene': 'KXD1', 'score': 10.59}, {'connected_gene': 'SUGP2', 'score': 9.94}, {'connected_gene': 'PDE4C', 'score': 8.69}, {'connected_gene': 'KLHL26', 'score': 5.03}, {'connected_gene': 'ARRDC2', 'score': 4.02}, {'connected_gene': 'IL12RB1', 'score': 2.3}, {'connected_gene': 'PIK3R2', 'score': 0.37}, {'connected_gene': 'PIR53058', 'score': 0.37}, {'connected_gene': 'ENSG00000268173', 'score': 0.37}]
chr19 GH19I016896 16896000 16898201 1.67 [{'connected_gene': 'ENSG00000269578', 'score': 20.73}, {'connected_gene': 'MED26', 'score': 14.26}, {'connected_gene': 'CHERP', 'score': 12.74}, {'connected_gene': 'COLGALT1', 'score': 12.36}, {'connected_gene': 'SMIM7', 'score': 12.06}, {'connected_gene': 'HAUS8', 'score': 11.83}, {'connected_gene': 'TPM4', 'score': 10.74}, {'connected_gene': 'ENSG00000268743', 'score': 10.59}, {'connected_gene': 'ENSG00000269481', 'score': 9.97}, {'connected_gene': 'PGLS', 'score': 9.76}, {'connected_gene': 'CPAMD8', 'score': 5.96}, {'connected_gene': 'SIN3B', 'score': 5.83}, {'connected_gene': 'UNC13A', 'score': 5.18}, {'connected_gene': 'F2RL3', 'score': 0.44}, {'connected_gene': 'RN7SL835P', 'score': 0.39}]
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 GH19I017559 17559116 17561138 0.52 [{'connected_gene': 'ENSG00000268743', 'score': 12.95}, {'connected_gene': 'FAM129C', 'score': 12.67}, {'connected_gene': 'PGLS', 'score': 12.64}, {'connected_gene': 'MVB12A', 'score': 11.18}, {'connected_gene': 'BST2', 'score': 11.18}, {'connected_gene': 'PLVAP', 'score': 11.09}, {'connected_gene': 'ENSG00000267904', 'score': 10.6}, {'connected_gene': 'COLGALT1', 'score': 7.46}, {'connected_gene': 'GC19M017590', 'score': 0.31}]

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