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
ENST00000419616 [[110045417, 110045590], [110045807, 110045976], [110062421, 110062503], [110064315, 110064395], [110068659, 110068871]] [[110045910, 110045976], [110062421, 110062503], [110064315, 110064395], [110068659, 110068871]]
ENST00000358015 [[110045559, 110045976], [110062421, 110062503], [110064315, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110094475]] [[110045910, 110045976], [110062421, 110062503], [110064315, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110091937]]
ENST00000416373 [[110046333, 110046468], [110062421, 110062503], [110064315, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110092165]] [[110064383, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110091937]]
ENST00000442587 [[110046975, 110047194], [110062421, 110062503], [110064315, 110064395], [110068659, 110068734]] [[110047191, 110047194], [110062421, 110062503], [110064315, 110064395], [110068659, 110068734]]
ENST00000457811 [[110068822, 110068928], [110073962, 110074018], [110081032, 110081160], [110093949, 110094470]] [[110068822, 110068928], [110073962, 110074018], [110081032, 110081160], [110093949, 110094003]]
NM_002874 [[110045516, 110045976], [110062421, 110062503], [110064315, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110094475]] [[110045910, 110045976], [110062421, 110062503], [110064315, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110091937]]
NM_001244724 [[110046333, 110046468], [110062421, 110062503], [110064315, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110094475]] [[110064383, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110091937]]
NM_001244713 [[110047049, 110047194], [110062421, 110062503], [110064315, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110094475]] [[110047191, 110047194], [110062421, 110062503], [110064315, 110064395], [110068659, 110068928], [110073962, 110074018], [110081032, 110081160], [110084263, 110084399], [110086170, 110086298], [110087114, 110087285], [110091823, 110091937]]
Promoter
Chrom Start End Description
chr9 110045511 110045522 CAGE_peak_3_at_RAD23B_5end
chr9 110045537 110045572 CAGE_peak_1_at_RAD23B_5end
chr9 110045636 110045647 CAGE_peak_4_at_RAD23B_5end
chr9 110045834 110045905 CAGE_peak_2_at_RAD23B_5end
chr9 110046340 110046368 CAGE_peak_7_at_RAD23B_5end
chr9 110046373 110046405 CAGE_peak_6_at_RAD23B_5end
chr9 110047130 110047161 CAGE_peak_9_at_RAD23B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I107210 107210379 107215193 1.33 [{'connected_gene': 'KLF4', 'score': 6.43}, {'connected_gene': 'LOC644661', 'score': 0.26}, {'connected_gene': 'RAD23B', 'score': 0.19}]
chr9 GH09I107440 107440260 107440409 0.56 [{'connected_gene': 'KLF4', 'score': 11.29}, {'connected_gene': 'HMGN2P32', 'score': 0.37}, {'connected_gene': 'LINC01509', 'score': 0.31}, {'connected_gene': 'RAD23B', 'score': 0.1}]
chr9 GH09I107437 107437680 107439687 0.66 [{'connected_gene': 'KLF4', 'score': 11.29}, {'connected_gene': 'HMGN2P32', 'score': 0.37}, {'connected_gene': 'LINC01509', 'score': 0.31}, {'connected_gene': 'RAD23B', 'score': 0.1}]
chr9 GH09I107221 107221326 107223194 0.82 [{'connected_gene': 'LOC644661', 'score': 0.23}, {'connected_gene': 'RAD23B', 'score': 0.21}]
chr9 GH09I107177 107177942 107178870 0.38 [{'connected_gene': 'LOC644661', 'score': 7.3}, {'connected_gene': 'RAD23B', 'score': 0.15}]
chr9 GH09I107215 107215600 107215800 0.56 [{'connected_gene': 'LOC644661', 'score': 0.26}, {'connected_gene': 'RAD23B', 'score': 0.2}]
chr9 GH09I107174 107174101 107177772 0.83 [{'connected_gene': 'LOC644661', 'score': 8.07}, {'connected_gene': 'RAD23B', 'score': 5.8}]
chr9 GH09I107172 107172280 107172429 0.64 [{'connected_gene': 'LOC644661', 'score': 550.77}, {'connected_gene': 'RAD23B', 'score': 0.14}]
chr9 GH09I107190 107190660 107190809 0.31 [{'connected_gene': 'LOC644661', 'score': 0.37}, {'connected_gene': 'RAD23B', 'score': 0.16}]
chr9 GH09I107246 107246401 107246800 0.38 [{'connected_gene': 'RAD23B', 'score': 6.68}, {'connected_gene': 'LOC644661', 'score': 0.18}]
chr9 GH09I107248 107247907 107250525 1.13 [{'connected_gene': 'RAD23B', 'score': 0.29}, {'connected_gene': 'LOC644661', 'score': 0.18}]
chr9 GH09I107273 107273783 107278763 1.3 [{'connected_gene': 'RAD23B', 'score': 0.44}, {'connected_gene': 'LOC644661', 'score': 0.14}]
chr9 GH09I107242 107242615 107245789 1.15 [{'connected_gene': 'RAD23B', 'score': 4.71}, {'connected_gene': 'LOC644661', 'score': 0.19}]
chr9 GH09I107269 107269255 107270668 1.24 [{'connected_gene': 'RAD23B', 'score': 0.39}, {'connected_gene': 'LOC644661', 'score': 0.15}]
chr9 GH09I107250 107250785 107253010 1.11 [{'connected_gene': 'RAD23B', 'score': 5.67}, {'connected_gene': 'LOC644661', 'score': 0.18}]
chr9 GH09I107227 107227476 107228614 0.43 [{'connected_gene': 'RAD23B', 'score': 0.22}, {'connected_gene': 'LOC644661', 'score': 0.22}]
chr9 GH09I107239 107239620 107239769 0.52 [{'connected_gene': 'RAD23B', 'score': 0.26}, {'connected_gene': 'LOC644661', 'score': 0.2}]
chr9 GH09I107259 107259966 107261451 1.19 [{'connected_gene': 'RAD23B', 'score': 0.34}, {'connected_gene': 'LOC644661', 'score': 0.17}]
chr9 GH09I107247 107246980 107247129 0.38 [{'connected_gene': 'RAD23B', 'score': 0.28}, {'connected_gene': 'LOC644661', 'score': 0.18}]
chr9 GH09I107293 107293001 107295000 0.89 [{'connected_gene': 'RAD23B', 'score': 0.39}, {'connected_gene': 'HMGN2P32', 'score': 0.1}]
chr9 GH09I107298 107298623 107301901 0.46 [{'connected_gene': 'RAD23B', 'score': 5.84}, {'connected_gene': 'HMGN2P32', 'score': 0.1}]
chr9 GH09I107351 107351740 107351889 0.54 [{'connected_gene': 'RAD23B', 'score': 0.2}, {'connected_gene': 'HMGN2P32', 'score': 0.14}]
chr9 GH09I107288 107288089 107289373 0.62 [{'connected_gene': 'RAD23B', 'score': 0.44}, {'connected_gene': 'HMGN2P32', 'score': 0.1}]
chr9 GH09I107289 107289801 107290000 0.51 [{'connected_gene': 'RAD23B', 'score': 0.44}, {'connected_gene': 'HMGN2P32', 'score': 0.1}]
chr9 GH09I107368 107368120 107369609 0.96 [{'connected_gene': 'RAD23B', 'score': 0.17}, {'connected_gene': 'HMGN2P32', 'score': 0.17}]
chr9 GH09I107303 107303400 107305413 0.2 [{'connected_gene': 'RAD23B', 'score': 6.53}, {'connected_gene': 'HMGN2P32', 'score': 0.1}]
chr9 GH09I107336 107336673 107338884 0.59 [{'connected_gene': 'RAD23B', 'score': 8.0}, {'connected_gene': 'HMGN2P32', 'score': 0.13}]
chr9 GH09I107309 107309420 107309569 0.67 [{'connected_gene': 'RAD23B', 'score': 0.31}, {'connected_gene': 'HMGN2P32', 'score': 0.11}]
chr9 GH09I107280 107280029 107286644 2.49 [{'connected_gene': 'RAD23B', 'score': 559.25}, {'connected_gene': 'HMGN2P32', 'score': 0.09}]
chr9 GH09I107363 107363579 107363952 0.38 [{'connected_gene': 'RAD23B', 'score': 0.18}, {'connected_gene': 'HMGN2P32', 'score': 0.16}]
chr9 GH09I107295 107295062 107296815 0.6 [{'connected_gene': 'RAD23B', 'score': 0.39}, {'connected_gene': 'HMGN2P32', 'score': 0.1}]
chr9 GH09I107340 107340481 107341889 1.06 [{'connected_gene': 'RAD23B', 'score': 0.22}, {'connected_gene': 'HMGN2P32', 'score': 0.13}]
chr9 GH09I107317 107317220 107317369 0.49 [{'connected_gene': 'RAD23B', 'score': 0.29}, {'connected_gene': 'HMGN2P32', 'score': 0.11}]
chr9 GH09I107386 107386223 107387189 0.31 [{'connected_gene': 'HMGN2P32', 'score': 0.19}, {'connected_gene': 'RAD23B', 'score': 0.15}]
chr9 GH09I107411 107411320 107411370 0.2 [{'connected_gene': 'HMGN2P32', 'score': 0.25}, {'connected_gene': 'RAD23B', 'score': 0.13}]
chr9 GH09I107412 107412680 107412829 0.57 [{'connected_gene': 'HMGN2P32', 'score': 0.25}, {'connected_gene': 'RAD23B', 'score': 0.13}]
chr9 GH09I107387 107387363 107387959 0.2 [{'connected_gene': 'HMGN2P32', 'score': 0.19}, {'connected_gene': 'RAD23B', 'score': 0.15}]
chr9 GH09I107403 107403485 107404869 0.49 [{'connected_gene': 'HMGN2P32', 'score': 0.23}, {'connected_gene': 'RAD23B', 'score': 0.13}]
chr9 GH09I107388 107388901 107391209 0.8 [{'connected_gene': 'HMGN2P32', 'score': 0.2}, {'connected_gene': 'RAD23B', 'score': 0.14}]
chr9 GH09I107409 107409168 107410828 0.2 [{'connected_gene': 'HMGN2P32', 'score': 0.25}, {'connected_gene': 'RAD23B', 'score': 0.13}]
chr9 GH09I107424 107424771 107425992 1.06 [{'connected_gene': 'HMGN2P32', 'score': 0.29}, {'connected_gene': 'LINC01509', 'score': 0.26}, {'connected_gene': 'RAD23B', 'score': 0.11}]
chr9 GH09I107432 107432840 107432989 0.46 [{'connected_gene': 'HMGN2P32', 'score': 0.31}, {'connected_gene': 'LINC01509', 'score': 0.29}, {'connected_gene': 'RAD23B', 'score': 0.11}]
chr9 GH09I107447 107447980 107448129 0.46 [{'connected_gene': 'HMGN2P32', 'score': 0.39}, {'connected_gene': 'LINC01509', 'score': 0.37}, {'connected_gene': 'RAD23B', 'score': 0.1}]
chr9 GH09I107422 107422200 107422601 0.97 [{'connected_gene': 'HMGN2P32', 'score': 0.28}, {'connected_gene': 'LINC01509', 'score': 0.26}, {'connected_gene': 'RAD23B', 'score': 0.12}]