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
ENST00000300976 [[18747774, 18747947], [18775070, 18775253], [18778473, 18781309]] [[18747864, 18747947], [18775070, 18775253], [18778473, 18780055]]
ENST00000595182 [[18747834, 18747947], [18775070, 18775253], [18778210, 18778436]] [[18747864, 18747947], [18775070, 18775253], [18778210, 18778253]]
ENST00000600657 [[18747837, 18747947], [18770496, 18770594], [18775070, 18775253], [18778473, 18778659]] [[18747864, 18747947], [18770496, 18770554]]
ENST00000599006 [[18747837, 18747947], [18775070, 18775253], [18778473, 18778612], [18780051, 18780608]] [[18747864, 18747947], [18775070, 18775253], [18778473, 18778612], [18780051, 18780084]]
ENST00000595423 [[18747866, 18747947], [18775070, 18775253], [18778386, 18778676]] [[18747866, 18747947], [18775070, 18775253], [18778386, 18778676]]
ENST00000596843 [[18755447, 18755476], [18775070, 18775253], [18778473, 18778802]] None
NM_001345985 [[18747774, 18747947], [18775070, 18775253], [18778210, 18778434]] [[18747864, 18747947], [18775070, 18775253], [18778210, 18778253]]
NM_001345984 [[18747774, 18747947], [18775070, 18775253], [18778473, 18778612], [18780051, 18781309]] [[18747864, 18747947], [18775070, 18775253], [18778473, 18778612], [18780051, 18780084]]
NM_018316 [[18747774, 18747947], [18775070, 18775253], [18778473, 18781309]] [[18747864, 18747947], [18775070, 18775253], [18778473, 18780055]]
NM_001345981 [[18747774, 18747947], [18775070, 18775253], [18778386, 18781309]] [[18747864, 18747947], [18775070, 18775253], [18778386, 18780055]]
NM_001345982 [[18747774, 18747947], [18770496, 18770594], [18775070, 18775253], [18778473, 18781309]] [[18770544, 18770594], [18775070, 18775253], [18778473, 18780055]]
NM_001345983 [[18755447, 18755476], [18775070, 18775253], [18778473, 18781309]] [[18778477, 18780055]]
Promoter
Chrom Start End Description
chr19 18747828 18747844 CAGE_peak_1_at_KLHL26_5end
chr19 18747855 18747866 CAGE_peak_2_at_KLHL26_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I018603 18603169 18614259 1.92 [{'connected_gene': 'CRLF1', 'score': 560.17}, {'connected_gene': 'TMEM59L', 'score': 556.88}, {'connected_gene': 'GC19P020238', 'score': 550.77}, {'connected_gene': 'UBA52', 'score': 18.66}, {'connected_gene': 'REX1BD', 'score': 8.59}, {'connected_gene': 'KLHL26', 'score': 5.39}, {'connected_gene': 'SSBP4', 'score': 4.67}, {'connected_gene': 'KXD1', 'score': 4.49}, {'connected_gene': 'CRTC1', 'score': 1.92}, {'connected_gene': 'GDF1', 'score': 1.92}, {'connected_gene': 'RAB3A', 'score': 1.68}, {'connected_gene': 'PDE4C', 'score': 1.18}, {'connected_gene': 'RN7SL155P', 'score': 0.34}]
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 GH19I018644 18644144 18645200 0.87 [{'connected_gene': 'IQCN', 'score': 12.6}, {'connected_gene': 'CRTC1', 'score': 12.41}, {'connected_gene': 'ENSG00000268030', 'score': 10.91}, {'connected_gene': 'UPF1', 'score': 10.36}, {'connected_gene': 'NR2C2AP', 'score': 9.74}, {'connected_gene': 'KLHL26', 'score': 0.44}]
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 GH19I018669 18669200 18670772 0.38 [{'connected_gene': 'KLHL26', 'score': 5.78}, {'connected_gene': 'TMEM59L', 'score': 5.75}, {'connected_gene': 'SNORA68', 'score': 5.46}, {'connected_gene': 'CRTC1', 'score': 0.39}]
chr19 GH19I018663 18663174 18664536 0.6 [{'connected_gene': 'KLHL26', 'score': 6.33}, {'connected_gene': 'CRTC1', 'score': 5.2}, {'connected_gene': 'SNORA68', 'score': 4.63}]
chr19 GH19I018636 18636000 18638701 2.18 [{'connected_gene': 'KLHL26', 'score': 555.58}, {'connected_gene': 'NR2C2AP', 'score': 41.03}, {'connected_gene': 'ENSG00000268030', 'score': 21.07}, {'connected_gene': 'TMEM161A', 'score': 19.33}, {'connected_gene': 'MAU2', 'score': 11.73}, {'connected_gene': 'RPL18A', 'score': 10.5}, {'connected_gene': 'CRTC1', 'score': 4.91}, {'connected_gene': 'SNORA68', 'score': 4.54}]
chr19 GH19I018635 18635071 18635220 0.79 [{'connected_gene': 'KLHL26', 'score': 550.77}, {'connected_gene': 'RN7SL155P', 'score': 0.77}]
chr19 GH19I018671 18671855 18673320 0.86 [{'connected_gene': 'REX1BD', 'score': 11.62}, {'connected_gene': 'CRTC1', 'score': 6.16}, {'connected_gene': 'SNORA68', 'score': 5.27}, {'connected_gene': 'TMEM59L', 'score': 4.42}, {'connected_gene': 'KLHL26', 'score': 0.28}]
chr19 GH19I018893 18893193 18896401 2.16 [{'connected_gene': 'GDF1', 'score': 590.1}, {'connected_gene': 'CERS1', 'score': 550.77}, {'connected_gene': 'TMEM59L', 'score': 8.37}, {'connected_gene': 'CRTC1', 'score': 7.81}, {'connected_gene': 'HAPLN4', 'score': 5.64}, {'connected_gene': 'HOMER3', 'score': 5.27}, {'connected_gene': 'NCAN', 'score': 4.07}, {'connected_gene': 'SUGP2', 'score': 2.99}, {'connected_gene': 'KLHL26', 'score': 2.23}, {'connected_gene': 'SLC25A42', 'score': 1.39}, {'connected_gene': 'ENSG00000269694', 'score': 0.39}, {'connected_gene': 'GC19M018886', 'score': 0.39}]
chr19 GH19I018657 18657160 18661749 1.54 [{'connected_gene': 'MAU2', 'score': 22.63}, {'connected_gene': 'IQCN', 'score': 22.61}, {'connected_gene': 'ENSG00000268030', 'score': 22.19}, {'connected_gene': 'UPF1', 'score': 21.58}, {'connected_gene': 'SUGP2', 'score': 18.88}, {'connected_gene': 'CRTC1', 'score': 15.71}, {'connected_gene': 'TSSK6', 'score': 11.43}, {'connected_gene': 'ENSG00000268938', 'score': 10.63}, {'connected_gene': 'UNC13A', 'score': 10.54}, {'connected_gene': 'TMEM59L', 'score': 10.46}, {'connected_gene': 'NR2C2AP', 'score': 10.46}, {'connected_gene': 'ENSG00000269191', 'score': 10.03}, {'connected_gene': 'SUGP1', 'score': 9.9}, {'connected_gene': 'IFI30', 'score': 5.55}, {'connected_gene': 'CRLF1', 'score': 4.81}, {'connected_gene': 'KLHL26', 'score': 0.34}]
chr19 GH19I018665 18665280 18666931 0.2 [{'connected_gene': 'CRTC1', 'score': 5.29}, {'connected_gene': 'KLHL26', 'score': 0.31}]
chr19 GH19I018677 18677209 18678980 1.4 [{'connected_gene': 'CRTC1', 'score': 5.87}, {'connected_gene': 'KLHL26', 'score': 0.26}]
chr19 GH19I018675 18675891 18676040 0.62 [{'connected_gene': 'CRTC1', 'score': 5.89}, {'connected_gene': 'KLHL26', 'score': 0.28}]
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 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 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 GH19I018648 18648375 18651941 1.29 [{'connected_gene': 'ENSG00000268030', 'score': 21.31}, {'connected_gene': 'UPF1', 'score': 20.05}, {'connected_gene': 'ENSG00000268938', 'score': 17.76}, {'connected_gene': 'NR2C2AP', 'score': 15.96}, {'connected_gene': 'ENSG00000269191', 'score': 15.18}, {'connected_gene': 'MAU2', 'score': 13.83}, {'connected_gene': 'IQCN', 'score': 11.3}, {'connected_gene': 'MEF2B', 'score': 10.51}, {'connected_gene': 'ELL', 'score': 10.36}, {'connected_gene': 'CRTC1', 'score': 5.47}, {'connected_gene': 'KLHL26', 'score': 5.24}, {'connected_gene': 'SNORA68', 'score': 5.06}, {'connected_gene': 'KXD1', 'score': 4.93}, {'connected_gene': 'CRLF1', 'score': 4.21}, {'connected_gene': 'COMP', 'score': 2.44}, {'connected_gene': 'COPE', 'score': 2.22}, {'connected_gene': 'TMEM161A', 'score': 1.43}]
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}]

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