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
ENST00000330194 [[63422718, 63422923], [63440900, 63441070], [63445798, 63445943], [63450306, 63450379], [63519816, 63519939], [63520620, 63520761], [63525696, 63526524]] [[63441000, 63441070], [63445798, 63445943], [63450306, 63450379], [63519816, 63519939], [63520620, 63520761], [63525696, 63525771]]
ENST00000389639 [[63422754, 63422790], [63445798, 63445943], [63450306, 63450378]] [[63445806, 63445943], [63450306, 63450378]]
Promoter
Chrom Start End Description
chr10 63422678 63422694 CAGE_peak_2_at_C10orf107_5end
chr10 63422695 63422725 CAGE_peak_1_at_C10orf107_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I061588 61588843 61589032 0.93 [{'connected_gene': 'RHOBTB1', 'score': 5.2}, {'connected_gene': 'CABCOCO1', 'score': 0.19}, {'connected_gene': 'GC10M061462', 'score': 0.16}, {'connected_gene': 'GC10P061456', 'score': 0.12}]
chr10 GH10I061803 61803636 61805364 0.77 [{'connected_gene': 'RHOBTB1', 'score': 5.28}, {'connected_gene': 'CABCOCO1', 'score': 4.86}, {'connected_gene': 'ENSG00000233643', 'score': 0.37}, {'connected_gene': 'GC10P061754', 'score': 0.25}]
chr10 GH10I061759 61759084 61766541 1.45 [{'connected_gene': 'ARID5B', 'score': 21.72}, {'connected_gene': 'CABCOCO1', 'score': 6.26}, {'connected_gene': 'GC10P061754', 'score': 0.44}, {'connected_gene': 'ENSG00000233643', 'score': 0.22}]
chr10 GH10I061829 61829844 61831574 1.58 [{'connected_gene': 'TMEM26', 'score': 13.6}, {'connected_gene': 'CABCOCO1', 'score': 8.07}, {'connected_gene': 'ARID5B', 'score': 1.94}, {'connected_gene': 'ENSG00000233643', 'score': 0.44}]
chr10 GH10I061390 61390700 61391517 0.81 [{'connected_gene': 'TMEM26', 'score': 9.65}, {'connected_gene': 'CABCOCO1', 'score': 8.0}, {'connected_gene': 'GC10M061433', 'score': 0.23}, {'connected_gene': 'GC10P061339', 'score': 0.23}]
chr10 GH10I061175 61175423 61175572 0.2 [{'connected_gene': 'CABCOCO1', 'score': 10.33}, {'connected_gene': 'RHOBTB1', 'score': 9.94}, {'connected_gene': 'GC10P061226', 'score': 0.23}, {'connected_gene': 'LOC105378323', 'score': 0.18}]
chr10 GH10I061783 61783749 61785196 0.7 [{'connected_gene': 'CABCOCO1', 'score': 21.95}, {'connected_gene': 'ARID5B', 'score': 10.53}, {'connected_gene': 'GC10P061754', 'score': 0.31}, {'connected_gene': 'ENSG00000233643', 'score': 0.28}]
chr10 GH10I061832 61832245 61840695 1.77 [{'connected_gene': 'CABCOCO1', 'score': 8.73}, {'connected_gene': 'ENSG00000233643', 'score': 0.37}, {'connected_gene': 'ARID5B', 'score': 0.21}]
chr10 GH10I061845 61845222 61846549 0.63 [{'connected_gene': 'CABCOCO1', 'score': 4.75}, {'connected_gene': 'ENSG00000233643', 'score': 0.34}, {'connected_gene': 'ARID5B', 'score': 0.22}]
chr10 GH10I061448 61448255 61448634 0.34 [{'connected_gene': 'CABCOCO1', 'score': 7.19}, {'connected_gene': 'TMEM26', 'score': 6.07}, {'connected_gene': 'ARID5B', 'score': 2.42}, {'connected_gene': 'GC10M061433', 'score': 0.77}, {'connected_gene': 'TMEM26-AS1', 'score': 0.77}]
chr10 GH10I061487 61487189 61488076 0.57 [{'connected_gene': 'CABCOCO1', 'score': 6.93}, {'connected_gene': 'TMEM26', 'score': 5.12}, {'connected_gene': 'GC10M061462', 'score': 0.39}, {'connected_gene': 'TMEM26-AS1', 'score': 0.29}, {'connected_gene': 'GC10P061456', 'score': 0.29}]
chr10 GH10I061746 61746425 61750407 0.74 [{'connected_gene': 'CABCOCO1', 'score': 14.08}, {'connected_gene': 'TMEM26', 'score': 4.74}, {'connected_gene': 'GC10P061754', 'score': 0.44}, {'connected_gene': 'ENSG00000272592', 'score': 0.21}]
chr10 GH10I061622 61622829 61624639 0.82 [{'connected_gene': 'CABCOCO1', 'score': 24.53}, {'connected_gene': 'TMEM26-AS1', 'score': 10.54}, {'connected_gene': 'TMEM26', 'score': 10.54}, {'connected_gene': 'GC10M061462', 'score': 0.13}]
chr10 GH10I061479 61479939 61480067 0.22 [{'connected_gene': 'CABCOCO1', 'score': 2.47}, {'connected_gene': 'GC10M061462', 'score': 0.37}, {'connected_gene': 'GC10P061456', 'score': 0.34}, {'connected_gene': 'TMEM26-AS1', 'score': 0.31}]
chr10 GH10I061486 61486863 61487012 0.64 [{'connected_gene': 'CABCOCO1', 'score': 6.93}, {'connected_gene': 'GC10M061462', 'score': 0.39}, {'connected_gene': 'TMEM26-AS1', 'score': 0.29}, {'connected_gene': 'GC10P061456', 'score': 0.29}]
chr10 GH10I061791 61791000 61791972 0.46 [{'connected_gene': 'CABCOCO1', 'score': 10.03}, {'connected_gene': 'ENSG00000233643', 'score': 0.31}, {'connected_gene': 'GC10P061754', 'score': 0.28}]
chr10 GH10I061793 61793063 61793212 0.58 [{'connected_gene': 'CABCOCO1', 'score': 10.02}, {'connected_gene': 'ENSG00000233643', 'score': 0.31}, {'connected_gene': 'GC10P061754', 'score': 0.28}]
chr10 GH10I061757 61757113 61758800 1.28 [{'connected_gene': 'CABCOCO1', 'score': 35.71}, {'connected_gene': 'GC10P061754', 'score': 0.77}, {'connected_gene': 'ENSG00000233643', 'score': 0.21}]
chr10 GH10I061705 61705256 61705867 0.46 [{'connected_gene': 'CABCOCO1', 'score': 11.5}, {'connected_gene': 'ENSG00000272592', 'score': 0.34}, {'connected_gene': 'GC10P061754', 'score': 0.25}]
chr10 GH10I061808 61808517 61809421 0.2 [{'connected_gene': 'CABCOCO1', 'score': 4.67}, {'connected_gene': 'ENSG00000233643', 'score': 0.39}, {'connected_gene': 'GC10P061754', 'score': 0.23}]
chr10 GH10I061750 61750548 61754089 1.34 [{'connected_gene': 'CABCOCO1', 'score': 24.8}, {'connected_gene': 'GC10P061754', 'score': 0.77}, {'connected_gene': 'ENSG00000272592', 'score': 0.2}]
chr10 GH10I061786 61785323 61785472 0.66 [{'connected_gene': 'CABCOCO1', 'score': 10.03}, {'connected_gene': 'GC10P061754', 'score': 0.29}, {'connected_gene': 'ENSG00000233643', 'score': 0.28}]
chr10 GH10I061589 61589983 61590132 0.2 [{'connected_gene': 'CABCOCO1', 'score': 17.04}, {'connected_gene': 'GC10M061462', 'score': 0.16}, {'connected_gene': 'GC10P061456', 'score': 0.12}]
chr10 GH10I061590 61589723 61589872 0.38 [{'connected_gene': 'CABCOCO1', 'score': 0.19}, {'connected_gene': 'GC10M061462', 'score': 0.16}, {'connected_gene': 'GC10P061456', 'score': 0.12}]
chr10 GH10I061794 61793472 61795526 1.12 [{'connected_gene': 'CABCOCO1', 'score': 8.08}, {'connected_gene': 'ENSG00000233643', 'score': 0.31}, {'connected_gene': 'GC10P061754', 'score': 0.28}]
chr10 GH10I061785 61785603 61787858 1.21 [{'connected_gene': 'CABCOCO1', 'score': 10.03}, {'connected_gene': 'ENSG00000233643', 'score': 0.29}, {'connected_gene': 'GC10P061754', 'score': 0.29}]
chr10 GH10I061627 61627496 61630121 1.06 [{'connected_gene': 'CABCOCO1', 'score': 20.26}, {'connected_gene': 'GC10M061462', 'score': 0.12}]
chr10 GH10I061634 61633251 61633515 0.2 [{'connected_gene': 'CABCOCO1', 'score': 0.31}, {'connected_gene': 'GC10M061462', 'score': 0.12}]
chr10 GH10I061612 61612483 61612632 0.74 [{'connected_gene': 'CABCOCO1', 'score': 0.23}, {'connected_gene': 'GC10M061462', 'score': 0.14}]
chr10 GH10I061642 61642196 61644609 0.93 [{'connected_gene': 'CABCOCO1', 'score': 0.37}, {'connected_gene': 'GC10M061462', 'score': 0.11}]
chr10 GH10I061633 61633783 61634012 0.67 [{'connected_gene': 'CABCOCO1', 'score': 0.31}, {'connected_gene': 'GC10M061462', 'score': 0.12}]
chr10 GH10I061662 61662601 61663429 1.6 [{'connected_gene': 'CABCOCO1', 'score': 591.98}, {'connected_gene': 'ENSG00000272592', 'score': 0.34}]
chr10 GH10I061621 61621043 61621192 0.2 [{'connected_gene': 'CABCOCO1', 'score': 10.81}, {'connected_gene': 'GC10M061462', 'score': 0.13}]
chr10 GH10I061635 61634603 61636752 0.85 [{'connected_gene': 'CABCOCO1', 'score': 33.66}, {'connected_gene': 'GC10M061462', 'score': 0.12}]
chr10 GH10I061671 61671373 61671510 0.35 [{'connected_gene': 'CABCOCO1', 'score': 32.85}, {'connected_gene': 'ENSG00000272592', 'score': 0.39}]
chr10 GH10I061632 61632403 61632552 0.78 [{'connected_gene': 'CABCOCO1', 'score': 0.29}, {'connected_gene': 'GC10M061462', 'score': 0.12}]
chr10 GH10I061397 61397068 61398599 0.83 [{'connected_gene': 'TMEM26-AS1', 'score': 11.61}, {'connected_gene': 'TMEM26', 'score': 11.6}, {'connected_gene': 'CABCOCO1', 'score': 8.0}, {'connected_gene': 'GC10M061433', 'score': 0.25}, {'connected_gene': 'GC10P061339', 'score': 0.22}]
chr10 GH10I061755 61755183 61755332 0.51 [{'connected_gene': 'GC10P061754', 'score': 550.77}, {'connected_gene': 'ENSG00000233643', 'score': 0.2}, {'connected_gene': 'CABCOCO1', 'score': 0.16}]