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
ENST00000321949 [[18794486, 18794638], [18853719, 18853836], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18888762]] [[18794512, 18794638], [18853719, 18853836], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18888192]]
ENST00000338797 [[18794487, 18794638], [18853719, 18853836], [18854917, 18854965], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18893004]] [[18794512, 18794638], [18853719, 18853836], [18854917, 18854965], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18888192]]
ENST00000594658 [[18846418, 18846453], [18853719, 18853836], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18888762]] [[18846450, 18846453], [18853719, 18853836], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18888192]]
ENST00000601916 [[18853719, 18853836], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18886450, 18886631], [18887980, 18888748]] [[18853818, 18853836], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18886450, 18886631], [18887980, 18888192]]
NM_015321 [[18794424, 18794638], [18853719, 18853836], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18893143]] [[18794512, 18794638], [18853719, 18853836], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18888192]]
NM_001098482 [[18794424, 18794638], [18853719, 18853836], [18854917, 18854965], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18893143]] [[18794512, 18794638], [18853719, 18853836], [18854917, 18854965], [18856632, 18856770], [18857862, 18857924], [18860590, 18860685], [18864309, 18864395], [18870360, 18870401], [18870817, 18871038], [18876213, 18876338], [18879294, 18879603], [18882251, 18882356], [18885709, 18885796], [18886450, 18886631], [18887980, 18888192]]
Promoter
Chrom Start End Description
chr19 18794397 18794420 CAGE_peak_2_at_CRTC1_5end
chr19 18794421 18794435 CAGE_peak_3_at_CRTC1_5end
chr19 18794437 18794445 CAGE_peak_5_at_CRTC1_5end
chr19 18794451 18794456 CAGE_peak_6_at_CRTC1_5end
chr19 18794470 18794512 CAGE_peak_1_at_CRTC1_5end
chr19 18846389 18846407 CAGE_peak_8_at_CRTC1_5end
chr19 18857858 18857889 CAGE_peak_4_at_CRTC1_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 GH19I018725 18725671 18726443 0.51 [{'connected_gene': 'CRLF1', 'score': 5.85}, {'connected_gene': 'TMEM59L', 'score': 4.58}, {'connected_gene': 'PIR61287', 'score': 0.77}, {'connected_gene': 'GC19M018715', 'score': 0.77}, {'connected_gene': 'CRTC1', '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 GH19I018484 18484402 18489540 1.26 [{'connected_gene': 'KXD1', 'score': 12.44}, {'connected_gene': 'UBA52', 'score': 12.37}, {'connected_gene': 'SSBP4', 'score': 12.29}, {'connected_gene': 'CRTC1', 'score': 12.15}, {'connected_gene': 'REX1BD', 'score': 11.84}, {'connected_gene': 'GC19M018475', 'score': 0.39}, {'connected_gene': 'ELL', 'score': 0.28}]
chr19 GH19I018775 18775602 18777113 0.6 [{'connected_gene': 'UPF1', 'score': 12.3}, {'connected_gene': 'COMP', 'score': 9.57}, {'connected_gene': 'GC19M018784', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.37}, {'connected_gene': 'CRTC1', 'score': 0.16}]
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 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 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 GH19I018707 18707859 18710367 0.46 [{'connected_gene': 'CRTC1', 'score': 19.67}, {'connected_gene': 'CRLF1', 'score': 6.03}, {'connected_gene': 'GC19M018715', 'score': 0.39}, {'connected_gene': 'GC19P020283', 'score': 0.37}]
chr19 GH19I018710 18710785 18713793 0.83 [{'connected_gene': 'CRTC1', 'score': 19.43}, {'connected_gene': 'CRLF1', 'score': 6.03}, {'connected_gene': 'GC19M018715', 'score': 0.39}, {'connected_gene': 'GC19P020283', 'score': 0.37}]
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 GH19I018586 18586400 18586601 0.38 [{'connected_gene': 'CRTC1', 'score': 11.84}, {'connected_gene': 'REX1BD', 'score': 0.77}, {'connected_gene': 'ENSG00000268983', 'score': 0.37}, {'connected_gene': 'CRLF1', 'score': 0.34}]
chr19 GH19I018682 18682821 18684905 2.2 [{'connected_gene': 'CRTC1', 'score': 555.67}, {'connected_gene': 'PDE4C', 'score': 1.97}, {'connected_gene': 'GC19P020283', 'score': 0.44}]
chr19 GH19I018718 18718877 18719539 0.2 [{'connected_gene': 'CRTC1', 'score': 10.82}, {'connected_gene': 'GC19M018715', 'score': 0.77}, {'connected_gene': 'GC19P020283', 'score': 0.31}]
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 GH19I018736 18736529 18744213 1.41 [{'connected_gene': 'COMP', 'score': 7.07}, {'connected_gene': 'CRLF1', 'score': 5.91}, {'connected_gene': 'KXD1', 'score': 4.27}, {'connected_gene': 'GDF1', 'score': 1.56}, {'connected_gene': 'GDF15', 'score': 1.23}, {'connected_gene': 'PIR61287', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.37}, {'connected_gene': 'CRTC1', 'score': 0.22}]
chr19 GH19I018761 18761509 18765591 1.5 [{'connected_gene': 'COMP', 'score': 9.93}, {'connected_gene': 'CRLF1', 'score': 7.56}, {'connected_gene': 'TMEM59L', 'score': 6.06}, {'connected_gene': 'HAPLN4', 'score': 4.95}, {'connected_gene': 'KXD1', 'score': 4.33}, {'connected_gene': 'GC19P020256', 'score': 0.77}, {'connected_gene': 'GC19M018784', 'score': 0.34}, {'connected_gene': 'CRTC1', 'score': 0.18}]
chr19 GH19I018734 18734947 18736250 0.51 [{'connected_gene': 'COMP', 'score': 6.51}, {'connected_gene': 'KXD1', 'score': 4.26}, {'connected_gene': 'PIR61287', 'score': 0.44}, {'connected_gene': 'GC19P020256', 'score': 0.34}, {'connected_gene': 'CRTC1', 'score': 0.23}]
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 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 GH19I018744 18744793 18745689 0.58 [{'connected_gene': 'GC19P020256', 'score': 0.39}, {'connected_gene': 'PIR61287', 'score': 0.39}, {'connected_gene': 'CRTC1', 'score': 0.21}]
chr19 GH19I018696 18696918 18697690 0.52 [{'connected_gene': 'GC19P020283', 'score': 0.77}, {'connected_gene': 'CRTC1', 'score': 0.39}, {'connected_gene': 'GC19M018715', 'score': 0.31}]
chr19 GH19I018746 18746111 18747560 0.51 [{'connected_gene': 'GC19P020256', 'score': 0.39}, {'connected_gene': 'PIR61287', 'score': 0.37}, {'connected_gene': 'CRTC1', 'score': 0.21}]
chr19 GH19I018767 18767983 18769862 0.83 [{'connected_gene': 'GC19P020256', 'score': 0.44}, {'connected_gene': 'GC19M018784', 'score': 0.37}, {'connected_gene': 'CRTC1', 'score': 0.17}]
chr19 GH19I018689 18689985 18690669 0.2 [{'connected_gene': 'GC19P020283', 'score': 0.77}, {'connected_gene': 'CRTC1', 'score': 0.44}]
chr19 GH19I018730 18730983 18734124 1.05 [{'connected_gene': 'PIR61287', 'score': 550.77}, {'connected_gene': 'COMP', 'score': 6.35}, {'connected_gene': 'KXD1', 'score': 4.71}, {'connected_gene': 'GC19P020256', 'score': 0.31}, {'connected_gene': 'CRTC1', 'score': 0.25}]
chr19 GH19I018756 18756551 18757739 0.66 [{'connected_gene': 'GC19P020256', 'score': 550.77}, {'connected_gene': 'CERS1', 'score': 12.03}, {'connected_gene': 'GDF1', 'score': 12.03}, {'connected_gene': 'COMP', 'score': 5.29}, {'connected_gene': 'PIR61287', 'score': 0.31}, {'connected_gene': 'CRTC1', 'score': 0.19}]

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