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
ENST00000600076 [[14627896, 14628196], [14673336, 14673387], [14674017, 14674069], [14674469, 14674550]] None
ENST00000215567 [[14640371, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676790]] [[14640508, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000598298 [[14640390, 14640523], [14644744, 14644858], [14647476, 14647506], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804]] [[14675075, 14675099], [14675597, 14675670], [14675760, 14675804]]
ENST00000596073 [[14640403, 14640523], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676789]] [[14675075, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000600083 [[14640405, 14640523], [14673336, 14673387], [14673952, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]] [[14675075, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000436007 [[14640406, 14640523], [14655925, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676789]] [[14655932, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000598987 [[14640406, 14640523], [14655925, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676789]] [[14640508, 14640523], [14655925, 14655992], [14673336, 14673387], [14674017, 14674064]]
ENST00000601652 [[14640409, 14640523], [14673336, 14673387], [14673952, 14674338]] None
ENST00000593637 [[14640421, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14675099], [14675597, 14675670], [14675760, 14676070]] None
ENST00000599646 [[14640441, 14643340]] None
ENST00000594807 [[14640441, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674715], [14674793, 14674931]] None
ENST00000598333 [[14640447, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674646, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676472]] [[14640508, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674646, 14674715], [14674793, 14674879]]
ENST00000596953 [[14640452, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14676095]] None
ENST00000597607 [[14640468, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676790]] None
ENST00000596164 [[14640508, 14640523], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674646, 14674696]] None
ENST00000598715 [[14656535, 14656700], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674885]] [[14656681, 14656700], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674885]]
ENST00000598918 [[14656570, 14656700], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674590, 14674626]] [[14656681, 14656700], [14673336, 14673387], [14674017, 14674064]]
ENST00000594545 [[14672778, 14672933], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675793]] [[14675075, 14675099], [14675597, 14675670], [14675760, 14675793]]
ENST00000601461 [[14672863, 14672933], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674582, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675852]] None
ENST00000600395 [[14674869, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14676102], [14676429, 14676475], [14676555, 14676783]] None
ENST00000601187 [[14675040, 14675099], [14675597, 14675670], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676789]] [[14675040, 14675099], [14675597, 14675670], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
ENST00000601350 [[14675063, 14675099], [14675597, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676733]] None
ENST00000599101 [[14675505, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676737]] None
ENST00000593775 [[14675509, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676787]] None
ENST00000598408 [[14675753, 14675935], [14676013, 14676102], [14676555, 14676792]] None
ENST00000594958 [[14675772, 14675804], [14675877, 14676102], [14676429, 14676773]] None
NM_001321170 [[14640371, 14640523], [14655925, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]] [[14655932, 14655992], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
NM_138501 [[14640378, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]] [[14640508, 14640523], [14673336, 14673387], [14674017, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676683]]
NR_038103 [[14640378, 14640523], [14673336, 14673387], [14673985, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]] None
NR_038104 [[14640378, 14640523], [14673336, 14673387], [14673952, 14674069], [14674469, 14674514], [14674611, 14674715], [14674793, 14674909], [14674993, 14675099], [14675597, 14675670], [14675760, 14675804], [14675877, 14675935], [14676013, 14676102], [14676429, 14676475], [14676555, 14676792]] None
Promoter
Chrom Start End Description
chr19 14640392 14640420 CAGE_peak_1_at_TECR_5end
chr19 14640427 14640448 CAGE_peak_2_at_TECR_5end
chr19 14672802 14672884 CAGE_peak_3_at_TECR_5end
chr19 14672996 14673012 CAGE_peak_5_at_TECR_5end
chr19 14673021 14673028 CAGE_peak_10_at_TECR_5end
chr19 14673071 14673095 CAGE_peak_6_at_TECR_5end
chr19 14673103 14673114 CAGE_peak_8_at_TECR_5end
chr19 14673170 14673182 CAGE_peak_4_at_TECR_5end
chr19 14673282 14673294 CAGE_peak_14_at_TECR_5end
chr19 14673321 14673353 CAGE_peak_9_at_TECR_5end
chr19 14675483 14675510 CAGE_peak_7_at_TECR_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I014512 14512509 14524550 2.6 [{'connected_gene': 'TECR', 'score': 566.76}, {'connected_gene': 'DNAJB1', 'score': 562.9}, {'connected_gene': 'NOTCH3', 'score': 13.11}, {'connected_gene': 'SYDE1', 'score': 12.3}, {'connected_gene': 'AKAP8', 'score': 11.92}, {'connected_gene': 'SNRPGP15', 'score': 11.87}, {'connected_gene': 'BRD4', 'score': 11.33}, {'connected_gene': 'ENSG00000273218', 'score': 9.72}, {'connected_gene': 'GIPC1', 'score': 6.04}, {'connected_gene': 'IL27RA', 'score': 5.35}, {'connected_gene': 'ADGRE5', 'score': 4.79}, {'connected_gene': 'PKN1', 'score': 3.86}, {'connected_gene': 'DDX39A', 'score': 1.58}, {'connected_gene': 'GC19P014515', 'score': 0.77}, {'connected_gene': 'PIR54842', 'score': 0.44}]
chr19 GH19I014362 14362609 14364498 1.91 [{'connected_gene': 'DCAF15', 'score': 16.87}, {'connected_gene': 'DDX39A', 'score': 11.65}, {'connected_gene': 'ADGRE5', 'score': 10.91}, {'connected_gene': 'RFX1', 'score': 10.51}, {'connected_gene': 'TECR', 'score': 6.25}, {'connected_gene': 'ZNF333', 'score': 3.96}, {'connected_gene': 'PKN1', 'score': 2.57}, {'connected_gene': 'ADGRE2', 'score': 1.25}, {'connected_gene': 'LINC01841', 'score': 0.44}, {'connected_gene': 'LINC01842', 'score': 0.31}]
chr19 GH19I014227 14227880 14228618 1.02 [{'connected_gene': 'CCDC130', 'score': 93.71}, {'connected_gene': 'MRI1', 'score': 82.58}, {'connected_gene': 'ZNF333', 'score': 68.37}, {'connected_gene': 'RFX1', 'score': 39.18}, {'connected_gene': 'DCAF15', 'score': 32.11}, {'connected_gene': 'DDX39A', 'score': 20.97}, {'connected_gene': 'NOTCH3', 'score': 13.11}, {'connected_gene': 'SYDE1', 'score': 12.29}, {'connected_gene': 'SNRPGP15', 'score': 11.62}, {'connected_gene': 'C19orf67', 'score': 11.53}, {'connected_gene': 'TECR', 'score': 10.7}, {'connected_gene': 'RN7SL231P', 'score': 0.37}, {'connected_gene': 'ENSG00000267406', 'score': 0.26}]
chr19 GH19I014000 14000593 14007606 2.63 [{'connected_gene': 'RFX1', 'score': 593.27}, {'connected_gene': 'CCDC130', 'score': 72.03}, {'connected_gene': 'TRMT1', 'score': 41.86}, {'connected_gene': 'DDX39A', 'score': 38.27}, {'connected_gene': 'DCAF15', 'score': 35.74}, {'connected_gene': 'ZNF333', 'score': 30.73}, {'connected_gene': 'MRI1', 'score': 18.13}, {'connected_gene': 'LOC284454', 'score': 14.27}, {'connected_gene': 'TECR', 'score': 10.68}, {'connected_gene': 'PKN1', 'score': 4.85}, {'connected_gene': 'ADGRE5', 'score': 3.11}, {'connected_gene': 'ZSWIM4', 'score': 2.38}, {'connected_gene': 'IL27RA', 'score': 1.66}, {'connected_gene': 'ENSG00000275091', 'score': 0.77}, {'connected_gene': 'PODNL1', 'score': 0.23}]
chr19 GH19I014558 14558042 14565160 1.2 [{'connected_gene': 'NDUFB7', 'score': 6.05}, {'connected_gene': 'DNAJB1', 'score': 0.29}, {'connected_gene': 'TECR', 'score': 0.26}]
chr19 GH19I014546 14544627 14546955 0.83 [{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 5.73}, {'connected_gene': 'SLC1A6', 'score': 5.12}, {'connected_gene': 'DNAJB1', 'score': 0.37}]
chr19 GH19I014544 14544013 14544176 0.52 [{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 5.79}, {'connected_gene': 'DNAJB1', 'score': 0.39}]
chr19 GH19I014542 14542334 14543401 0.92 [{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'TECR', 'score': 6.09}, {'connected_gene': 'LOC100507373', 'score': 5.1}, {'connected_gene': 'DNAJB1', 'score': 0.39}]
chr19 GH19I014545 14544318 14544418 0.72 [{'connected_gene': 'NDUFB7', 'score': 12.91}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'DNAJB1', 'score': 0.39}, {'connected_gene': 'TECR', 'score': 0.31}]
chr19 GH19I014541 14541419 14541791 0.31 [{'connected_gene': 'NDUFB7', 'score': 12.89}, {'connected_gene': 'GIPC1', 'score': 11.75}, {'connected_gene': 'LOC100507373', 'score': 5.62}, {'connected_gene': 'DNAJB1', 'score': 0.39}, {'connected_gene': 'TECR', 'score': 0.34}]
chr19 GH19I014525 14525248 14531134 2.72 [{'connected_gene': 'DNAJB1', 'score': 561.5}, {'connected_gene': 'TECR', 'score': 556.69}, {'connected_gene': 'GC19P014531', 'score': 550.77}, {'connected_gene': 'PIR54842', 'score': 550.77}, {'connected_gene': 'MIR639', 'score': 550.77}, {'connected_gene': 'GC19P014530', 'score': 550.77}, {'connected_gene': 'CCDC130', 'score': 26.34}, {'connected_gene': 'AKAP8', 'score': 19.93}, {'connected_gene': 'MRI1', 'score': 18.09}, {'connected_gene': 'BRD4', 'score': 12.46}, {'connected_gene': 'ZNF333', 'score': 12.34}, {'connected_gene': 'RFX1', 'score': 9.74}, {'connected_gene': 'GIPC1', 'score': 5.98}, {'connected_gene': 'OR7C2', 'score': 4.92}]
chr19 GH19I014509 14509002 14511799 1.24 [{'connected_gene': 'DNAJB1', 'score': 10.19}, {'connected_gene': 'TECR', 'score': 4.82}, {'connected_gene': 'GC19P014515', 'score': 0.77}, {'connected_gene': 'GIPC1', 'score': 0.39}]
chr19 GH19I014502 14502150 14508912 1.69 [{'connected_gene': 'DNAJB1', 'score': 11.84}, {'connected_gene': 'ENSG00000268189', 'score': 9.66}, {'connected_gene': 'GIPC1', 'score': 8.78}, {'connected_gene': 'PKN1', 'score': 5.91}, {'connected_gene': 'ADGRE5', 'score': 4.84}, {'connected_gene': 'TECR', 'score': 4.83}, {'connected_gene': 'SNRPGP15', 'score': 4.79}, {'connected_gene': 'IL27RA', 'score': 3.83}, {'connected_gene': 'DDX39A', 'score': 1.4}, {'connected_gene': 'GC19P014515', 'score': 0.44}]
chr19 GH19I014787 14787132 14787747 0.69 [{'connected_gene': 'ADGRE2', 'score': 19.57}, {'connected_gene': 'TECR', 'score': 5.01}, {'connected_gene': 'LOC100129118', 'score': 0.77}]
chr19 GH19I014550 14550001 14555198 1.64 [{'connected_gene': 'LOC284454', 'score': 14.19}, {'connected_gene': 'CCDC130', 'score': 13.68}, {'connected_gene': 'RFX1', 'score': 10.28}, {'connected_gene': 'AKAP8L', 'score': 10.23}, {'connected_gene': 'MRI1', 'score': 10.18}, {'connected_gene': 'AKAP8', 'score': 10.07}, {'connected_gene': 'SLC1A6', 'score': 7.52}, {'connected_gene': 'OR7C2', 'score': 3.49}, {'connected_gene': 'NDUFB7', 'score': 0.37}, {'connected_gene': 'DNAJB1', 'score': 0.34}, {'connected_gene': 'TECR', 'score': 0.28}]
chr19 GH19I014536 14536521 14538519 1.05 [{'connected_gene': 'GIPC1', 'score': 12.15}, {'connected_gene': 'TECR', 'score': 5.71}, {'connected_gene': 'DNAJB1', 'score': 0.44}, {'connected_gene': 'NDUFB7', 'score': 0.29}]
chr19 GH19I014535 14535688 14536309 0.31 [{'connected_gene': 'GIPC1', 'score': 12.16}, {'connected_gene': 'TECR', 'score': 5.55}, {'connected_gene': 'DNAJB1', 'score': 0.44}, {'connected_gene': 'NDUFB7', 'score': 0.28}]
chr19 GH19I014531 14531732 14534134 0.72 [{'connected_gene': 'GIPC1', 'score': 12.16}, {'connected_gene': 'TECR', 'score': 5.77}, {'connected_gene': 'DNAJB1', 'score': 0.77}, {'connected_gene': 'NDUFB7', 'score': 0.28}]
chr19 GH19I014365 14365418 14376806 1.68 [{'connected_gene': 'LINC01841', 'score': 550.77}, {'connected_gene': 'ADGRE5', 'score': 13.88}, {'connected_gene': 'PKN1', 'score': 7.22}, {'connected_gene': 'TECR', 'score': 5.79}, {'connected_gene': 'DDX39A', 'score': 5.55}, {'connected_gene': 'ZNF333', 'score': 3.81}, {'connected_gene': 'DCAF15', 'score': 3.52}, {'connected_gene': 'IL27RA', 'score': 3.4}, {'connected_gene': 'DNAJB1', 'score': 3.03}, {'connected_gene': 'RFX1', 'score': 2.58}]
chr19 GH19I014555 14555535 14557398 1.36 [{'connected_gene': 'AKAP8', 'score': 75.37}, {'connected_gene': 'CCDC130', 'score': 69.43}, {'connected_gene': 'MRI1', 'score': 44.94}, {'connected_gene': 'RFX1', 'score': 37.78}, {'connected_gene': 'BRD4', 'score': 36.33}, {'connected_gene': 'ZNF333', 'score': 31.8}, {'connected_gene': 'DCAF15', 'score': 23.92}, {'connected_gene': 'DDX39A', 'score': 21.0}, {'connected_gene': 'AKAP8L', 'score': 18.27}, {'connected_gene': 'SNRPGP15', 'score': 10.0}, {'connected_gene': 'NDUFB7', 'score': 5.45}, {'connected_gene': 'DNAJB1', 'score': 0.31}, {'connected_gene': 'TECR', 'score': 0.28}]