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
ENST00000460265 [[126112314, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126150861, 126150939], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126172706]] None
ENST00000261366 [[126112839, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126172712]] [[126113200, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126171956]]
ENST00000504788 [[126112844, 126112936], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126172263]] None
ENST00000492190 [[126112852, 126112944], [126113052, 126113559], [126140467, 126140606]] None
ENST00000472034 [[126112852, 126112944], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154671]] None
ENST00000395354 [[126112880, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154926]] [[126113200, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154838]]
ENST00000463908 [[126113070, 126113098], [126113389, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126145947]] None
ENST00000494185 [[126147404, 126147590], [126154613, 126154834], [126156601, 126156773]] None
ENST00000512460 [[126154619, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161801]] None
NM_005573 [[126112314, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126172712]] [[126113200, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126171956]]
NR_134488 [[126112314, 126113559], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126150861, 126150939], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126172712]] None
NM_001198557 [[126112844, 126112936], [126140467, 126140624], [126141262, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126172712]] [[126141376, 126141388], [126145871, 126146042], [126147464, 126147590], [126154613, 126154834], [126156601, 126156827], [126158472, 126158577], [126161679, 126161799], [126168385, 126168493], [126171914, 126171956]]
Promoter
Chrom Start End Description
chr5 126112794 126112928 CAGE_peak_1_at_LMNB1_5end
chr5 126112960 126112968 CAGE_peak_15_at_LMNB1_5end
chr5 126112987 126113012 CAGE_peak_4_at_LMNB1_5end
chr5 126113018 126113036 CAGE_peak_5_at_LMNB1_5end
chr5 126113041 126113051 CAGE_peak_13_at_LMNB1_5end
chr5 126113053 126113064 CAGE_peak_7_at_LMNB1_5end
chr5 126113110 126113127 CAGE_peak_9_at_LMNB1_5end
chr5 126147409 126147430 CAGE_peak_3_at_LMNB1_5end
chr5 126147449 126147493 CAGE_peak_2_at_LMNB1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I126747 126747389 126749281 1.4 [{'connected_gene': 'PHAX', 'score': 21.48}, {'connected_gene': 'LMNB1-DT', 'score': 12.47}, {'connected_gene': 'LMNB1', 'score': 12.47}, {'connected_gene': 'ALDH7A1', 'score': 4.98}, {'connected_gene': 'GC05P126739', 'score': 0.44}, {'connected_gene': 'RNU6-752P', 'score': 0.44}]
chr5 GH05I126757 126757999 126759545 1.47 [{'connected_gene': 'LMNB1', 'score': 2.64}, {'connected_gene': 'RNU6-752P', 'score': 0.77}, {'connected_gene': 'LMNB1-DT', 'score': 0.37}]
chr5 GH05I126699 126699601 126700200 0.49 [{'connected_gene': 'LMNB1', 'score': 11.77}, {'connected_gene': 'LMNB1-DT', 'score': 11.77}, {'connected_gene': 'RNU6-752P', 'score': 11.59}, {'connected_gene': 'ALDH7A1', 'score': 10.69}, {'connected_gene': 'ENSG00000250602', 'score': 9.39}, {'connected_gene': 'GRAMD2B', 'score': 9.36}, {'connected_gene': 'MARCH3', 'score': 9.08}, {'connected_gene': 'LOC105379162', 'score': 0.34}, {'connected_gene': 'HSPE1P10', 'score': 0.28}]
chr5 GH05I126679 126679543 126681483 1.32 [{'connected_gene': 'LMNB1', 'score': 16.27}, {'connected_gene': 'LMNB1-DT', 'score': 12.52}, {'connected_gene': 'RNU6-752P', 'score': 11.22}, {'connected_gene': 'ALDH7A1', 'score': 4.97}, {'connected_gene': 'LOC105379162', 'score': 0.44}, {'connected_gene': 'HSPE1P10', 'score': 0.22}]
chr5 GH05I126759 126759808 126763556 1.51 [{'connected_gene': 'PRRC1', 'score': 21.04}, {'connected_gene': 'CCDC192', 'score': 12.1}, {'connected_gene': 'PHAX', 'score': 10.57}, {'connected_gene': 'ALDH7A1', 'score': 6.34}, {'connected_gene': 'RNU6-752P', 'score': 0.44}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'LMNB1-DT', 'score': 0.37}]
chr5 GH05I126821 126821272 126828653 0.31 [{'connected_gene': 'MARCH3', 'score': 15.32}, {'connected_gene': 'LMNB1-DT', 'score': 11.34}, {'connected_gene': 'LMNB1', 'score': 11.34}, {'connected_gene': 'RNU6-752P', 'score': 10.55}, {'connected_gene': 'ALDH7A1', 'score': 5.07}, {'connected_gene': 'GC05M126868', 'score': 0.26}]
chr5 GH05I126828 126828953 126832198 0.49 [{'connected_gene': 'MARCH3', 'score': 10.71}, {'connected_gene': 'GC05M126868', 'score': 0.28}, {'connected_gene': 'LMNB1-DT', 'score': 0.23}, {'connected_gene': 'LMNB1', 'score': 0.23}]
chr5 GH05I126832 126832913 126834463 0.2 [{'connected_gene': 'MARCH3', 'score': 11.91}, {'connected_gene': 'GC05M126868', 'score': 0.28}, {'connected_gene': 'LMNB1-DT', 'score': 0.22}, {'connected_gene': 'LMNB1', 'score': 0.22}]
chr5 GH05I126787 126787646 126792088 0.68 [{'connected_gene': 'RNU6-752P', 'score': 11.62}, {'connected_gene': 'PHAX', 'score': 10.56}, {'connected_gene': 'MARCH3', 'score': 10.19}, {'connected_gene': 'CCDC192', 'score': 10.09}, {'connected_gene': 'ALDH7A1', 'score': 5.16}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'LMNB1-DT', 'score': 0.39}, {'connected_gene': 'GC05M126868', 'score': 0.18}]
chr5 GH05I126786 126786033 126787497 0.43 [{'connected_gene': 'RNU6-752P', 'score': 11.62}, {'connected_gene': 'ALDH7A1', 'score': 5.17}, {'connected_gene': 'LMNB1-DT', 'score': 0.44}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'GC05M126868', 'score': 0.18}]
chr5 GH05I126794 126794201 126794800 0.4 [{'connected_gene': 'RNU6-752P', 'score': 11.26}, {'connected_gene': 'MARCH3', 'score': 10.19}, {'connected_gene': 'LMNB1-DT', 'score': 0.37}, {'connected_gene': 'LMNB1', 'score': 0.37}, {'connected_gene': 'GC05M126868', 'score': 0.19}]
chr5 GH05I126793 126793601 126793800 0.4 [{'connected_gene': 'RNU6-752P', 'score': 11.26}, {'connected_gene': 'MARCH3', 'score': 10.19}, {'connected_gene': 'LMNB1-DT', 'score': 0.37}, {'connected_gene': 'LMNB1', 'score': 0.37}, {'connected_gene': 'GC05M126868', 'score': 0.18}]
chr5 GH05I126717 126717588 126720278 0.2 [{'connected_gene': 'RNU6-752P', 'score': 11.92}, {'connected_gene': 'LMNB1-DT', 'score': 11.66}, {'connected_gene': 'LMNB1', 'score': 11.66}, {'connected_gene': 'ALDH7A1', 'score': 6.93}, {'connected_gene': 'HSPE1P10', 'score': 0.37}, {'connected_gene': 'LOC105379162', 'score': 0.26}]
chr5 GH05I126713 126713000 126713201 0.74 [{'connected_gene': 'RNU6-752P', 'score': 11.91}, {'connected_gene': 'LMNB1-DT', 'score': 11.54}, {'connected_gene': 'LMNB1', 'score': 11.54}, {'connected_gene': 'ALDH7A1', 'score': 6.98}, {'connected_gene': 'HSPE1P10', 'score': 0.34}, {'connected_gene': 'LOC105379162', 'score': 0.28}]
chr5 GH05I126753 126753180 126753691 0.76 [{'connected_gene': 'RNU6-752P', 'score': 550.77}, {'connected_gene': 'LMNB1-DT', 'score': 12.5}, {'connected_gene': 'LMNB1', 'score': 12.5}, {'connected_gene': 'GC05P126739', 'score': 0.39}]
chr5 GH05I126674 126674048 126674481 0.38 [{'connected_gene': 'LOC105379162', 'score': 550.77}, {'connected_gene': 'LMNB1-DT', 'score': 12.41}, {'connected_gene': 'LMNB1', 'score': 12.41}, {'connected_gene': 'RNU6-752P', 'score': 11.28}, {'connected_gene': 'BOLA3P3', 'score': 0.39}]
chr5 GH05I126675 126675709 126676870 1.12 [{'connected_gene': 'LOC105379162', 'score': 550.77}, {'connected_gene': 'LMNB1-DT', 'score': 12.51}, {'connected_gene': 'LMNB1', 'score': 12.51}, {'connected_gene': 'RNU6-752P', 'score': 11.21}, {'connected_gene': 'ALDH7A1', 'score': 5.48}, {'connected_gene': 'HSPE1P10', 'score': 0.21}]
chr5 GH05I126648 126648387 126649805 0.89 [{'connected_gene': 'LMNB1-DT', 'score': 10.59}, {'connected_gene': 'LMNB1', 'score': 10.59}, {'connected_gene': 'ALDH7A1', 'score': 8.09}, {'connected_gene': 'GC05M126665', 'score': 0.39}, {'connected_gene': 'TEX43', 'score': 0.37}]
chr5 GH05I126808 126808002 126812731 1.05 [{'connected_gene': 'LMNB1-DT', 'score': 11.77}, {'connected_gene': 'LMNB1', 'score': 11.77}, {'connected_gene': 'MARCH3', 'score': 10.59}, {'connected_gene': 'RNU6-752P', 'score': 10.57}, {'connected_gene': 'ALDH7A1', 'score': 5.06}, {'connected_gene': 'GC05M126868', 'score': 0.22}]
chr5 GH05I126814 126814402 126815399 0.72 [{'connected_gene': 'LMNB1-DT', 'score': 11.37}, {'connected_gene': 'LMNB1', 'score': 11.37}, {'connected_gene': 'MARCH3', 'score': 10.6}, {'connected_gene': 'RNU6-752P', 'score': 10.56}, {'connected_gene': 'GC05M126868', 'score': 0.23}]
chr5 GH05I126813 126813401 126814253 0.66 [{'connected_gene': 'LMNB1-DT', 'score': 11.37}, {'connected_gene': 'LMNB1', 'score': 11.37}, {'connected_gene': 'MARCH3', 'score': 10.6}, {'connected_gene': 'RNU6-752P', 'score': 10.56}, {'connected_gene': 'GC05M126868', 'score': 0.22}]
chr5 GH05I126801 126801801 126802218 0.92 [{'connected_gene': 'LMNB1-DT', 'score': 12.63}, {'connected_gene': 'LMNB1', 'score': 12.6}, {'connected_gene': 'MARCH3', 'score': 10.12}, {'connected_gene': 'GC05M126868', 'score': 0.2}]
chr5 GH05I126775 126775413 126780571 2.32 [{'connected_gene': 'LMNB1-DT', 'score': 550.77}, {'connected_gene': 'LMNB1', 'score': 550.77}, {'connected_gene': 'RNU6-752P', 'score': 11.6}, {'connected_gene': 'ALDH7A1', 'score': 5.69}, {'connected_gene': 'GC05M126868', 'score': 0.16}]
chr5 GH05I126684 126684454 126685510 0.52 [{'connected_gene': 'LMNB1-DT', 'score': 12.32}, {'connected_gene': 'LMNB1', 'score': 12.32}, {'connected_gene': 'RNU6-752P', 'score': 11.39}, {'connected_gene': 'LOC105379162', 'score': 0.39}, {'connected_gene': 'HSPE1P10', 'score': 0.23}]
chr5 GH05I126746 126746429 126746578 0.71 [{'connected_gene': 'LMNB1-DT', 'score': 12.45}, {'connected_gene': 'LMNB1', 'score': 12.45}, {'connected_gene': 'GC05P126739', 'score': 0.44}, {'connected_gene': 'RNU6-752P', 'score': 0.44}]
chr5 GH05I126752 126752154 126752323 0.6 [{'connected_gene': 'LMNB1-DT', 'score': 12.5}, {'connected_gene': 'LMNB1', 'score': 12.5}, {'connected_gene': 'RNU6-752P', 'score': 0.77}, {'connected_gene': 'GC05P126739', 'score': 0.39}]