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
ENST00000444376 [[245014467, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026975, 245027844]] [[245017751, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026975, 245027609]]
ENST00000283179 [[245016689, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026918, 245027773]] [[245017751, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026918, 245027609]]
ENST00000366525 [[245017434, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245024393]] None
ENST00000483966 [[245019584, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026914, 245026957]] None
ENST00000468690 [[245019715, 245019927], [245020029, 245020378]] None
ENST00000440865 [[245021412, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026396]] [[245021412, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026054]]
ENST00000465881 [[245021454, 245021576], [245022030, 245022649]] None
ENST00000476241 [[245025079, 245025836], [245025920, 245026032], [245026975, 245027793]] None
NM_031844 [[245013601, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026918, 245027827]] [[245017751, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026918, 245027609]]
NM_004501 [[245013601, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026975, 245027827]] [[245017751, 245017805], [245018274, 245018346], [245018725, 245018910], [245019205, 245019460], [245019758, 245019927], [245020029, 245020158], [245020899, 245021019], [245021312, 245021576], [245022030, 245022143], [245022576, 245022676], [245023636, 245023776], [245025762, 245025836], [245025920, 245026032], [245026975, 245027609]]
Promoter
Chrom Start End Description
chr1 245017461 245017466 CAGE_peak_5_at_HNRNPU_5end
chr1 245020116 245020160 CAGE_peak_10_at_HNRNPU_5end
chr1 245022599 245022657 CAGE_peak_7_at_HNRNPU_5end
chr1 245025974 245025996 CAGE_peak_11_at_HNRNPU_5end
chr1 245026018 245026040 CAGE_peak_13_at_HNRNPU_5end
chr1 245026181 245026208 CAGE_peak_19_at_HNRNPU_5end
chr1 245026254 245026279 CAGE_peak_15_at_HNRNPU_5end
chr1 245026294 245026336 CAGE_peak_6_at_HNRNPU_5end
chr1 245026388 245026408 CAGE_peak_16_at_HNRNPU_5end
chr1 245027766 245027800 CAGE_peak_1_at_HNRNPU_5end
chr1 245027801 245027824 CAGE_peak_3_at_HNRNPU_5end
chr1 245027833 245027855 CAGE_peak_2_at_HNRNPU_5end
chr1 245027866 245027876 CAGE_peak_4_at_HNRNPU_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I244381 244381800 244382601 0.76 [{'connected_gene': 'DESI2', 'score': 11.48}, {'connected_gene': 'HNRNPU', 'score': 11.46}, {'connected_gene': 'CATSPERE', 'score': 7.24}, {'connected_gene': 'GC01M244395', 'score': 0.39}, {'connected_gene': 'ENSG00000240963', 'score': 0.31}, {'connected_gene': 'C1orf100', 'score': 0.29}]
chr1 GH01I244651 244651303 244655158 2.09 [{'connected_gene': 'DESI2', 'score': 550.77}, {'connected_gene': 'HNRNPU', 'score': 22.04}, {'connected_gene': 'LOC101928068', 'score': 17.8}, {'connected_gene': 'COX20', 'score': 11.89}, {'connected_gene': 'RPL37P8', 'score': 0.26}]
chr1 GH01I244599 244599103 244600819 1.4 [{'connected_gene': 'CYCSP5', 'score': 550.77}, {'connected_gene': 'HNRNPU', 'score': 11.91}, {'connected_gene': 'DESI2', 'score': 11.03}, {'connected_gene': 'ADSS', 'score': 2.83}, {'connected_gene': 'EFCAB2', 'score': 1.13}, {'connected_gene': 'CATSPERE', 'score': 0.11}]
chr1 GH01I243916 243916004 243918776 1.35 [{'connected_gene': 'LOC339529', 'score': 550.77}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'DESI2', 'score': 14.31}, {'connected_gene': 'AKT3', 'score': 13.29}, {'connected_gene': 'HNRNPU', 'score': 11.14}, {'connected_gene': 'ENSG00000236031', 'score': 9.99}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'CEP170', 'score': 4.68}]
chr1 GH01I245106 245106554 245108207 0.91 [{'connected_gene': 'HNRNPU', 'score': 29.58}, {'connected_gene': 'EFCAB2', 'score': 18.09}, {'connected_gene': 'RNU1-132P', 'score': 12.02}, {'connected_gene': 'DESI2', 'score': 11.46}, {'connected_gene': 'PIR32194', 'score': 0.44}, {'connected_gene': 'ENSG00000223353', 'score': 0.37}]
chr1 GH01I244860 244860199 244866940 2.54 [{'connected_gene': 'HNRNPU', 'score': 653.01}, {'connected_gene': 'ENSG00000273175', 'score': 561.52}, {'connected_gene': 'DESI2', 'score': 80.89}, {'connected_gene': 'COX20', 'score': 34.8}, {'connected_gene': 'LOC101928068', 'score': 29.42}, {'connected_gene': 'ADSS', 'score': 21.4}, {'connected_gene': 'CATSPERE', 'score': 19.79}]
chr1 GH01I245337 245337316 245338803 0.92 [{'connected_gene': 'HNRNPU', 'score': 36.44}, {'connected_gene': 'DESI2', 'score': 18.83}, {'connected_gene': 'LOC101928068', 'score': 13.67}, {'connected_gene': 'KIF26B', 'score': 10.86}, {'connected_gene': 'KIF26B-AS1', 'score': 10.63}, {'connected_gene': 'ADSS', 'score': 9.8}, {'connected_gene': 'PIR44116', 'score': 0.34}, {'connected_gene': 'LOC105373266', 'score': 0.14}]
chr1 GH01I244665 244665188 244666491 1.1 [{'connected_gene': 'HNRNPU', 'score': 11.92}, {'connected_gene': 'DESI2', 'score': 0.39}, {'connected_gene': 'RPL37P8', 'score': 0.31}]
chr1 GH01I243923 243923482 243928236 1.04 [{'connected_gene': 'HNRNPU', 'score': 11.82}, {'connected_gene': 'LOC339529', 'score': 0.44}, {'connected_gene': 'LOC105373258', 'score': 0.23}]
chr1 GH01I244318 244318188 244327227 1.71 [{'connected_gene': 'HNRNPU', 'score': 30.54}, {'connected_gene': 'ADSS', 'score': 17.74}, {'connected_gene': 'C1orf100', 'score': 11.98}, {'connected_gene': 'AKT3', 'score': 4.99}, {'connected_gene': 'LOC105373262', 'score': 0.77}, {'connected_gene': 'GC01M244263', 'score': 0.22}]
chr1 GH01I244940 244940269 244941677 1.06 [{'connected_gene': 'HNRNPU', 'score': 47.27}, {'connected_gene': 'LOC101928068', 'score': 39.34}, {'connected_gene': 'CATSPERE', 'score': 32.35}, {'connected_gene': 'COX20', 'score': 21.88}, {'connected_gene': 'DESI2', 'score': 10.48}, {'connected_gene': 'GC01P244944', 'score': 0.77}, {'connected_gene': 'ENSG00000273175', 'score': 0.18}]
chr1 GH01I245336 245336144 245337228 0.66 [{'connected_gene': 'HNRNPU', 'score': 27.63}, {'connected_gene': 'LOC101928068', 'score': 13.67}, {'connected_gene': 'COX20', 'score': 11.71}, {'connected_gene': 'KIF26B-AS1', 'score': 10.45}, {'connected_gene': 'DESI2', 'score': 10.15}, {'connected_gene': 'PIR44116', 'score': 0.34}, {'connected_gene': 'LOC105373266', 'score': 0.14}, {'connected_gene': 'KIF26B', 'score': 0.09}]
chr1 GH01I244272 244272245 244274801 1.17 [{'connected_gene': 'HNRNPU', 'score': 21.99}, {'connected_gene': 'LOC101928068', 'score': 9.66}, {'connected_gene': 'GC01M244263', 'score': 0.44}, {'connected_gene': 'LOC105373262', 'score': 0.23}]
chr1 GH01I244213 244213545 244215707 1.04 [{'connected_gene': 'CATSPERE', 'score': 16.37}, {'connected_gene': 'C1orf100', 'score': 15.08}, {'connected_gene': 'DESI2', 'score': 11.46}, {'connected_gene': 'HNRNPU', 'score': 11.45}, {'connected_gene': 'GC01M244263', 'score': 0.25}, {'connected_gene': 'LOC105373261', 'score': 0.15}]
chr1 GH01I244449 244449526 244453146 2.29 [{'connected_gene': 'CATSPERE', 'score': 560.99}, {'connected_gene': 'ADSS', 'score': 550.77}, {'connected_gene': 'ENSG00000236031', 'score': 27.46}, {'connected_gene': 'HNRNPU', 'score': 21.64}, {'connected_gene': 'DESI2', 'score': 19.66}, {'connected_gene': 'LOC101928068', 'score': 17.78}, {'connected_gene': 'COX20', 'score': 11.85}, {'connected_gene': 'LOC105373264', 'score': 0.37}]
chr1 GH01I244352 244352092 244355357 2.19 [{'connected_gene': 'C1orf100', 'score': 555.59}, {'connected_gene': 'ENSG00000236031', 'score': 11.61}, {'connected_gene': 'HNRNPU', 'score': 10.61}, {'connected_gene': 'DESI2', 'score': 10.42}, {'connected_gene': 'ADSS', 'score': 9.19}, {'connected_gene': 'GC01M244395', 'score': 0.26}]
chr1 GH01I244346 244346564 244351556 1.73 [{'connected_gene': 'ADSS', 'score': 29.85}, {'connected_gene': 'ENSG00000236031', 'score': 24.16}, {'connected_gene': 'DESI2', 'score': 14.34}, {'connected_gene': 'HNRNPU', 'score': 11.15}, {'connected_gene': 'LOC101928068', 'score': 10.9}, {'connected_gene': 'AKT3', 'score': 9.98}, {'connected_gene': 'C1orf100', 'score': 0.77}, {'connected_gene': 'LOC105373262', 'score': 0.34}]
chr1 GH01I245345 245345318 245346188 0.84 [{'connected_gene': 'ADSS', 'score': 20.41}, {'connected_gene': 'HNRNPU', 'score': 9.89}, {'connected_gene': 'PIR44116', 'score': 0.29}, {'connected_gene': 'LOC105373266', 'score': 0.15}, {'connected_gene': 'KIF26B', 'score': 0.08}]
chr1 GH01I244832 244832420 244838776 2.34 [{'connected_gene': 'COX20', 'score': 584.0}, {'connected_gene': 'DESI2', 'score': 38.57}, {'connected_gene': 'HNRNPU', 'score': 37.45}, {'connected_gene': 'ADSS', 'score': 29.37}, {'connected_gene': 'LOC101928068', 'score': 22.86}, {'connected_gene': 'AKT3', 'score': 21.88}]
chr1 GH01I244839 244839910 244842534 0.97 [{'connected_gene': 'COX20', 'score': 15.85}, {'connected_gene': 'RNU6-947P', 'score': 10.73}, {'connected_gene': 'HNRNPU', 'score': 0.34}]
chr1 GH01I244857 244857059 244858826 0.54 [{'connected_gene': 'COX20', 'score': 28.91}, {'connected_gene': 'RNU6-947P', 'score': 11.09}, {'connected_gene': 'HNRNPU', 'score': 0.44}]
chr1 GH01I244855 244854746 244855822 0.43 [{'connected_gene': 'COX20', 'score': 15.36}, {'connected_gene': 'RNU6-947P', 'score': 10.6}, {'connected_gene': 'HNRNPU', 'score': 0.44}]
chr1 GH01I244224 244224201 244226000 0.8 [{'connected_gene': 'COX20', 'score': 14.24}, {'connected_gene': 'ENSG00000236031', 'score': 11.34}, {'connected_gene': 'LOC101928068', 'score': 10.79}, {'connected_gene': 'DESI2', 'score': 10.46}, {'connected_gene': 'HNRNPU', 'score': 10.22}, {'connected_gene': 'GC01M244263', 'score': 0.28}, {'connected_gene': 'LOC105373261', 'score': 0.14}]
chr1 GH01I244854 244854176 244854600 1.03 [{'connected_gene': 'RNU6-947P', 'score': 10.59}, {'connected_gene': 'HNRNPU', 'score': 0.39}, {'connected_gene': 'COX20', 'score': 0.37}]
chr1 GH01I244046 244046005 244053384 3.01 [{'connected_gene': 'ZBTB18', 'score': 573.21}, {'connected_gene': 'DESI2', 'score': 24.02}, {'connected_gene': 'ENSG00000253326', 'score': 15.36}, {'connected_gene': 'COX20', 'score': 15.18}, {'connected_gene': 'AKT3', 'score': 12.95}, {'connected_gene': 'HNRNPU', 'score': 12.83}, {'connected_gene': 'LINC01347', 'score': 11.61}, {'connected_gene': 'LOC101928068', 'score': 10.02}, {'connected_gene': 'ENSG00000236031', 'score': 9.97}, {'connected_gene': 'ADSS', 'score': 9.75}, {'connected_gene': 'SDCCAG8', 'score': 9.68}, {'connected_gene': 'LOC440742', 'score': 0.39}, {'connected_gene': 'LOC339529', 'score': 0.12}]
chr1 GH01I244967 244967941 244972590 2.34 [{'connected_gene': 'LOC101928068', 'score': 656.12}, {'connected_gene': 'EFCAB2', 'score': 617.26}, {'connected_gene': 'HNRNPU', 'score': 65.18}, {'connected_gene': 'COX20', 'score': 33.49}, {'connected_gene': 'ADSS', 'score': 20.34}, {'connected_gene': 'DESI2', 'score': 11.47}]
chr1 GH01I245051 245051114 245055400 1.44 [{'connected_gene': 'LOC101928068', 'score': 40.97}, {'connected_gene': 'EFCAB2', 'score': 26.68}, {'connected_gene': 'RNU6-1089P', 'score': 11.39}, {'connected_gene': 'HNRNPU', 'score': 10.71}, {'connected_gene': 'RNU6-947P', 'score': 10.37}, {'connected_gene': 'RNU6-999P', 'score': 0.44}, {'connected_gene': 'PIR32194', 'score': 0.25}]
chr1 GH01I244962 244962484 244966094 1.27 [{'connected_gene': 'GC01P244964', 'score': 550.77}, {'connected_gene': 'EFCAB2', 'score': 69.4}, {'connected_gene': 'LOC101928068', 'score': 52.0}, {'connected_gene': 'HNRNPU', 'score': 20.92}, {'connected_gene': 'DESI2', 'score': 10.42}]
chr1 GH01I244298 244298493 244304668 1.74 [{'connected_gene': 'ENSG00000236031', 'score': 11.61}, {'connected_gene': 'HNRNPU', 'score': 10.61}, {'connected_gene': 'DESI2', 'score': 10.41}, {'connected_gene': 'ADSS', 'score': 9.01}, {'connected_gene': 'AKT3', 'score': 4.57}, {'connected_gene': 'LOC105373262', 'score': 0.34}, {'connected_gene': 'GC01M244263', 'score': 0.28}]
chr1 GH01I244239 244239401 244239800 0.84 [{'connected_gene': 'ENSG00000236031', 'score': 29.8}, {'connected_gene': 'LOC101928068', 'score': 26.94}, {'connected_gene': 'HNRNPU', 'score': 26.76}, {'connected_gene': 'CATSPERE', 'score': 23.63}, {'connected_gene': 'COX20', 'score': 22.37}, {'connected_gene': 'DESI2', 'score': 19.23}, {'connected_gene': 'SDCCAG8', 'score': 18.57}, {'connected_gene': 'AKT3', 'score': 10.42}, {'connected_gene': 'GC01M244263', 'score': 0.34}, {'connected_gene': 'LOC105373262', 'score': 0.17}, {'connected_gene': 'LOC105373261', 'score': 0.13}]

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