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
ENST00000426838 [[42260137, 42260360], [42281139, 42281797], [42449194, 42449248], [42456529, 42457379]] [[42281311, 42281797], [42449194, 42449248], [42456529, 42456718]]
ENST00000282030 [[42260862, 42260986], [42281139, 42281797], [42449194, 42449248], [42529845, 42533305], [42618449, 42618620], [42643043, 42648475]] [[42281311, 42281797], [42449194, 42449248], [42529845, 42533305], [42618449, 42618620], [42643043, 42643663]]
ENST00000591940 [[42277128, 42277307], [42281139, 42281722]] [[42281311, 42281722]]
NM_001130110 [[42260137, 42260360], [42281139, 42281797], [42449194, 42449248], [42456529, 42457379]] [[42281311, 42281797], [42449194, 42449248], [42456529, 42456718]]
NM_015559 [[42260862, 42260986], [42281139, 42281797], [42449194, 42449248], [42529845, 42533305], [42618449, 42618620], [42643043, 42648475]] [[42281311, 42281797], [42449194, 42449248], [42529845, 42533305], [42618449, 42618620], [42643043, 42643663]]
Promoter
Chrom Start End Description
chr18 42260030 42260055 CAGE_peak_3_at_SETBP1_5end
chr18 42260059 42260132 CAGE_peak_1_at_SETBP1_5end
chr18 42260236 42260250 CAGE_peak_7_at_SETBP1_5end
chr18 42260840 42260860 CAGE_peak_2_at_SETBP1_5end
chr18 42260861 42260882 CAGE_peak_5_at_SETBP1_5end
chr18 42260920 42260951 CAGE_peak_4_at_SETBP1_5end
chr18 42277095 42277130 CAGE_peak_8_at_SETBP1_5end
chr18 42646649 42646652 CAGE_peak_9_at_SETBP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr18 GH18I045212 45212856 45213005 1.28 [{'connected_gene': 'SLC14A2', 'score': 550.77}, {'connected_gene': 'SETBP1', 'score': 10.82}, {'connected_gene': 'LOC101927961', 'score': 0.29}]
chr18 GH18I044423 44423920 44425031 0.2 [{'connected_gene': 'SETBP1', 'score': 11.09}, {'connected_gene': 'GC18P044486', 'score': 0.21}, {'connected_gene': 'KRT8P5', 'score': 0.15}, {'connected_gene': 'LINC01478', 'score': 0.14}]
chr18 GH18I044568 44568456 44568922 0.43 [{'connected_gene': 'SETBP1', 'score': 10.93}, {'connected_gene': 'LOC105376868', 'score': 0.39}, {'connected_gene': 'LINC01478', 'score': 0.28}]
chr18 GH18I044569 44569136 44569285 0.2 [{'connected_gene': 'SETBP1', 'score': 10.93}, {'connected_gene': 'LOC105376868', 'score': 0.39}, {'connected_gene': 'LINC01478', 'score': 0.28}]
chr18 GH18I044589 44589299 44590402 0.86 [{'connected_gene': 'SETBP1', 'score': 4.3}, {'connected_gene': 'LOC105376868', 'score': 0.44}, {'connected_gene': 'GC18P044635', 'score': 0.25}]
chr18 GH18I044651 44651241 44652448 0.81 [{'connected_gene': 'SETBP1', 'score': 10.67}, {'connected_gene': 'GC18M044646', 'score': 0.77}, {'connected_gene': 'LOC105372089', 'score': 0.39}]
chr18 GH18I044741 44741071 44746036 1.78 [{'connected_gene': 'SETBP1', 'score': 14.01}, {'connected_gene': 'LOC101927943', 'score': 10.21}, {'connected_gene': 'ENSG00000280365', 'score': 0.39}, {'connected_gene': 'GC18M044779', 'score': 0.18}]
chr18 GH18I044699 44699561 44701866 1.11 [{'connected_gene': 'SETBP1', 'score': 21.61}, {'connected_gene': 'LOC101927943', 'score': 6.67}, {'connected_gene': 'GC18P044681', 'score': 0.37}, {'connected_gene': 'GC18M044726', 'score': 0.31}]
chr18 GH18I044678 44678516 44684247 2.45 [{'connected_gene': 'SETBP1', 'score': 569.77}, {'connected_gene': 'GC18P044681', 'score': 550.77}, {'connected_gene': 'GC18M044677', 'score': 550.77}, {'connected_gene': 'LOC101927943', 'score': 550.77}, {'connected_gene': 'GC18M044726', 'score': 0.25}]
chr18 GH18I044535 44535773 44536971 0.31 [{'connected_gene': 'SETBP1', 'score': 11.75}, {'connected_gene': 'LINC01478', 'score': 0.77}, {'connected_gene': 'LOC105376868', 'score': 0.26}]
chr18 GH18I044552 44552856 44553005 0.43 [{'connected_gene': 'SETBP1', 'score': 10.43}, {'connected_gene': 'LINC01478', 'score': 0.34}, {'connected_gene': 'LOC105376868', 'score': 0.31}]
chr18 GH18I044506 44506269 44509316 0.74 [{'connected_gene': 'SETBP1', 'score': 10.83}, {'connected_gene': 'GC18P044512', 'score': 0.77}, {'connected_gene': 'LINC01478', 'score': 0.34}, {'connected_gene': 'GC18P044486', 'score': 0.34}]
chr18 GH18I044856 44856200 44856400 0.38 [{'connected_gene': 'SETBP1', 'score': 10.14}, {'connected_gene': 'GC18M044779', 'score': 0.31}, {'connected_gene': 'MIR4319', 'score': 0.14}]
chr18 GH18I044860 44860176 44860325 0.31 [{'connected_gene': 'SETBP1', 'score': 10.47}, {'connected_gene': 'GC18M044779', 'score': 0.29}, {'connected_gene': 'MIR4319', 'score': 0.14}]
chr18 GH18I044942 44942797 44944632 0.74 [{'connected_gene': 'SETBP1', 'score': 4.87}, {'connected_gene': 'MIR4319', 'score': 0.31}, {'connected_gene': 'GC18M044779', 'score': 0.13}]
chr18 GH18I044851 44851427 44853459 0.59 [{'connected_gene': 'SETBP1', 'score': 10.13}, {'connected_gene': 'GC18M044779', 'score': 0.34}, {'connected_gene': 'MIR4319', 'score': 0.13}]
chr18 GH18I044855 44855385 44855826 0.31 [{'connected_gene': 'SETBP1', 'score': 10.14}, {'connected_gene': 'GC18M044779', 'score': 0.31}, {'connected_gene': 'MIR4319', 'score': 0.14}]
chr18 GH18I044723 44723198 44727288 1.58 [{'connected_gene': 'SETBP1', 'score': 12.88}, {'connected_gene': 'GC18M044726', 'score': 0.44}, {'connected_gene': 'GC18P044681', 'score': 0.26}]
chr18 GH18I044778 44778633 44780096 0.63 [{'connected_gene': 'SETBP1', 'score': 11.13}, {'connected_gene': 'GC18M044779', 'score': 0.25}, {'connected_gene': 'ENSG00000280365', 'score': 0.25}]
chr18 GH18I044692 44692518 44694235 0.38 [{'connected_gene': 'SETBP1', 'score': 15.95}, {'connected_gene': 'GC18P044681', 'score': 0.39}, {'connected_gene': 'GC18M044726', 'score': 0.28}]
chr18 GH18I044686 44686148 44686207 0.7 [{'connected_gene': 'SETBP1', 'score': 550.44}, {'connected_gene': 'GC18P044681', 'score': 0.44}, {'connected_gene': 'GC18M044726', 'score': 0.26}]
chr18 GH18I044714 44714816 44716508 1.04 [{'connected_gene': 'SETBP1', 'score': 2.13}, {'connected_gene': 'GC18M044726', 'score': 0.39}, {'connected_gene': 'GC18P044681', 'score': 0.29}]
chr18 GH18I044696 44696516 44697555 1.02 [{'connected_gene': 'SETBP1', 'score': 11.11}, {'connected_gene': 'GC18P044681', 'score': 0.37}, {'connected_gene': 'GC18M044726', 'score': 0.29}]
chr18 GH18I044691 44691136 44691265 0.54 [{'connected_gene': 'SETBP1', 'score': 0.39}, {'connected_gene': 'GC18P044681', 'score': 0.39}, {'connected_gene': 'GC18M044726', 'score': 0.28}]
chr18 GH18I044637 44637009 44638598 0.46 [{'connected_gene': 'SETBP1', 'score': 8.51}, {'connected_gene': 'GC18P044639', 'score': 0.77}, {'connected_gene': 'GC18P044635', 'score': 0.77}]
chr18 GH18I044789 44789286 44794638 1.25 [{'connected_gene': 'SETBP1', 'score': 10.7}, {'connected_gene': 'GC18M044779', 'score': 0.28}, {'connected_gene': 'ENSG00000280365', 'score': 0.22}]
chr18 GH18I044782 44782016 44782165 0.58 [{'connected_gene': 'SETBP1', 'score': 11.12}, {'connected_gene': 'GC18M044779', 'score': 0.25}, {'connected_gene': 'ENSG00000280365', 'score': 0.25}]
chr18 GH18I044917 44916840 44918642 0.64 [{'connected_gene': 'MIR4319', 'score': 0.23}, {'connected_gene': 'GC18M044779', 'score': 0.17}, {'connected_gene': 'SETBP1', 'score': 0.07}]
chr18 GH18I044909 44909115 44909628 0.65 [{'connected_gene': 'MIR4319', 'score': 0.21}, {'connected_gene': 'GC18M044779', 'score': 0.18}, {'connected_gene': 'SETBP1', 'score': 0.07}]
chr18 GH18I044927 44927616 44927765 0.2 [{'connected_gene': 'MIR4319', 'score': 0.26}, {'connected_gene': 'GC18M044779', 'score': 0.15}, {'connected_gene': 'SETBP1', 'score': 0.07}]
chr18 GH18I044915 44915635 44916182 0.2 [{'connected_gene': 'MIR4319', 'score': 0.23}, {'connected_gene': 'GC18M044779', 'score': 0.17}, {'connected_gene': 'SETBP1', 'score': 0.07}]
chr18 GH18I044912 44912712 44914665 0.43 [{'connected_gene': 'MIR4319', 'score': 0.22}, {'connected_gene': 'GC18M044779', 'score': 0.17}, {'connected_gene': 'SETBP1', 'score': 0.07}]
chr18 GH18I044970 44969556 44969705 0.38 [{'connected_gene': 'MIR4319', 'score': 550.77}, {'connected_gene': 'GC18M044779', 'score': 0.11}, {'connected_gene': 'SETBP1', 'score': 0.06}]
chr18 GH18I044916 44916516 44916665 0.46 [{'connected_gene': 'MIR4319', 'score': 0.23}, {'connected_gene': 'GC18M044779', 'score': 0.17}, {'connected_gene': 'SETBP1', 'score': 0.07}]
chr18 GH18I044969 44969752 44969913 0.31 [{'connected_gene': 'MIR4319', 'score': 550.77}, {'connected_gene': 'GC18M044779', 'score': 0.11}, {'connected_gene': 'SETBP1', 'score': 0.06}]
chr18 GH18I044937 44937943 44939552 1.06 [{'connected_gene': 'MIR4319', 'score': 0.29}, {'connected_gene': 'GC18M044779', 'score': 0.14}, {'connected_gene': 'SETBP1', 'score': 0.07}]
chr18 GH18I045059 45059856 45060005 0.8 [{'connected_gene': 'GC18P045064', 'score': 0.77}, {'connected_gene': 'ENSG00000279319', 'score': 0.19}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I044826 44826162 44827856 1.09 [{'connected_gene': 'GC18M044779', 'score': 550.77}, {'connected_gene': 'ENSG00000280365', 'score': 0.16}, {'connected_gene': 'SETBP1', 'score': 0.11}]
chr18 GH18I044822 44822036 44822185 0.8 [{'connected_gene': 'GC18M044779', 'score': 0.44}, {'connected_gene': 'ENSG00000280365', 'score': 0.17}, {'connected_gene': 'SETBP1', 'score': 0.11}]
chr18 GH18I044777 44777985 44778277 0.51 [{'connected_gene': 'GC18M044779', 'score': 0.25}, {'connected_gene': 'ENSG00000280365', 'score': 0.25}, {'connected_gene': 'SETBP1', 'score': 0.15}]
chr18 GH18I044709 44709528 44710519 0.95 [{'connected_gene': 'GC18M044726', 'score': 0.34}, {'connected_gene': 'SETBP1', 'score': 0.31}, {'connected_gene': 'GC18P044681', 'score': 0.31}]
chr18 GH18I044807 44807444 44808166 0.83 [{'connected_gene': 'GC18M044779', 'score': 0.34}, {'connected_gene': 'ENSG00000280365', 'score': 0.18}, {'connected_gene': 'SETBP1', 'score': 0.13}]
chr18 GH18I044757 44757923 44761844 1.22 [{'connected_gene': 'ENSG00000280365', 'score': 0.31}, {'connected_gene': 'GC18M044779', 'score': 0.2}, {'connected_gene': 'SETBP1', 'score': 0.18}]
chr18 GH18I044824 44824000 44824201 0.46 [{'connected_gene': 'GC18M044779', 'score': 0.77}, {'connected_gene': 'ENSG00000280365', 'score': 0.16}, {'connected_gene': 'SETBP1', 'score': 0.11}]
chr18 GH18I044806 44806113 44806838 0.51 [{'connected_gene': 'GC18M044779', 'score': 0.34}, {'connected_gene': 'ENSG00000280365', 'score': 0.19}, {'connected_gene': 'SETBP1', 'score': 0.13}]
chr18 GH18I044825 44824801 44825000 0.43 [{'connected_gene': 'GC18M044779', 'score': 0.77}, {'connected_gene': 'ENSG00000280365', 'score': 0.16}, {'connected_gene': 'SETBP1', 'score': 0.11}]
chr18 GH18I045019 45019427 45020679 0.2 [{'connected_gene': 'ENSG00000279319', 'score': 0.29}, {'connected_gene': 'GC18P045064', 'score': 0.26}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I044801 44801793 44805945 1.2 [{'connected_gene': 'GC18M044779', 'score': 0.34}, {'connected_gene': 'ENSG00000280365', 'score': 0.19}, {'connected_gene': 'SETBP1', 'score': 0.13}]
chr18 GH18I044796 44796118 44800746 1 [{'connected_gene': 'GC18M044779', 'score': 0.31}, {'connected_gene': 'ENSG00000280365', 'score': 0.2}, {'connected_gene': 'SETBP1', 'score': 0.13}]
chr18 GH18I044712 44712156 44712305 0.66 [{'connected_gene': 'GC18M044726', 'score': 0.37}, {'connected_gene': 'SETBP1', 'score': 0.29}, {'connected_gene': 'GC18P044681', 'score': 0.29}]
chr18 GH18I044771 44771237 44772599 1.25 [{'connected_gene': 'ENSG00000280365', 'score': 0.28}, {'connected_gene': 'GC18M044779', 'score': 0.22}, {'connected_gene': 'SETBP1', 'score': 0.16}]
chr18 GH18I044816 44816136 44816285 0.51 [{'connected_gene': 'GC18M044779', 'score': 0.39}, {'connected_gene': 'ENSG00000280365', 'score': 0.18}, {'connected_gene': 'SETBP1', 'score': 0.12}]
chr18 GH18I045044 45044515 45045366 0.31 [{'connected_gene': 'GC18P045064', 'score': 0.37}, {'connected_gene': 'ENSG00000279319', 'score': 0.22}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I044765 44765552 44766308 0.4 [{'connected_gene': 'ENSG00000280365', 'score': 0.29}, {'connected_gene': 'GC18M044779', 'score': 0.21}, {'connected_gene': 'SETBP1', 'score': 0.17}]
chr18 GH18I044746 44746601 44754040 0.46 [{'connected_gene': 'ENSG00000280365', 'score': 0.37}, {'connected_gene': 'SETBP1', 'score': 0.19}, {'connected_gene': 'GC18M044779', 'score': 0.18}]
chr18 GH18I044708 44708600 44709400 0.79 [{'connected_gene': 'GC18M044726', 'score': 0.34}, {'connected_gene': 'SETBP1', 'score': 0.31}, {'connected_gene': 'GC18P044681', 'score': 0.31}]
chr18 GH18I045013 45013724 45014710 0.66 [{'connected_gene': 'ENSG00000279319', 'score': 0.31}, {'connected_gene': 'GC18P045064', 'score': 0.23}, {'connected_gene': 'SETBP1', 'score': 0.06}]
chr18 GH18I044761 44761916 44762145 0.69 [{'connected_gene': 'ENSG00000280365', 'score': 0.31}, {'connected_gene': 'GC18M044779', 'score': 0.2}, {'connected_gene': 'SETBP1', 'score': 0.18}]
chr18 GH18I044763 44763531 44764728 0.2 [{'connected_gene': 'ENSG00000280365', 'score': 0.29}, {'connected_gene': 'GC18M044779', 'score': 0.21}, {'connected_gene': 'SETBP1', 'score': 0.18}]
chr18 GH18I045057 45057326 45058664 0.2 [{'connected_gene': 'GC18P045064', 'score': 0.44}, {'connected_gene': 'ENSG00000279319', 'score': 0.19}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I045068 45068036 45068289 0.4 [{'connected_gene': 'GC18P045064', 'score': 0.77}, {'connected_gene': 'GC18P045092', 'score': 0.34}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I045050 45050023 45051913 1.06 [{'connected_gene': 'GC18P045064', 'score': 0.39}, {'connected_gene': 'ENSG00000279319', 'score': 0.21}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I044729 44729119 44734399 1.19 [{'connected_gene': 'GC18M044726', 'score': 550.77}, {'connected_gene': 'ENSG00000280365', 'score': 550.77}, {'connected_gene': 'SETBP1', 'score': 10.07}]
chr18 GH18I044823 44822896 44823677 0.31 [{'connected_gene': 'GC18M044779', 'score': 0.77}, {'connected_gene': 'ENSG00000280365', 'score': 0.16}, {'connected_gene': 'SETBP1', 'score': 0.11}]
chr18 GH18I045008 45008699 45009525 0.31 [{'connected_gene': 'ENSG00000279319', 'score': 0.34}, {'connected_gene': 'GC18P045064', 'score': 0.22}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I044786 44786191 44787736 0.46 [{'connected_gene': 'GC18M044779', 'score': 0.26}, {'connected_gene': 'ENSG00000280365', 'score': 0.23}, {'connected_gene': 'SETBP1', 'score': 0.14}]
chr18 GH18I044788 44788952 44789227 0.4 [{'connected_gene': 'GC18M044779', 'score': 0.28}, {'connected_gene': 'ENSG00000280365', 'score': 0.22}, {'connected_gene': 'SETBP1', 'score': 0.14}]
chr18 GH18I045066 45066456 45067582 0.4 [{'connected_gene': 'GC18P045064', 'score': 0.77}, {'connected_gene': 'GC18P045092', 'score': 0.31}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I044740 44740176 44740245 0.43 [{'connected_gene': 'ENSG00000280365', 'score': 0.44}, {'connected_gene': 'SETBP1', 'score': 0.21}, {'connected_gene': 'GC18M044779', 'score': 0.17}]
chr18 GH18I044820 44820016 44820245 0.74 [{'connected_gene': 'GC18M044779', 'score': 0.44}, {'connected_gene': 'ENSG00000280365', 'score': 0.17}, {'connected_gene': 'SETBP1', 'score': 0.12}]
chr18 GH18I045015 45015833 45017716 1.01 [{'connected_gene': 'ENSG00000279319', 'score': 0.29}, {'connected_gene': 'GC18P045064', 'score': 0.25}, {'connected_gene': 'SETBP1', 'score': 0.05}]
chr18 GH18I044736 44736816 44736965 0.89 [{'connected_gene': 'ENSG00000280365', 'score': 0.77}, {'connected_gene': 'SETBP1', 'score': 0.22}, {'connected_gene': 'GC18M044779', 'score': 0.16}]
chr18 GH18I044830 44830596 44830745 0.2 [{'connected_gene': 'GC18M044779', 'score': 0.77}, {'connected_gene': 'MIR4319', 'score': 0.12}, {'connected_gene': 'SETBP1', 'score': 0.1}]
chr18 GH18I044895 44895556 44895685 0.65 [{'connected_gene': 'GC18M044779', 'score': 0.2}, {'connected_gene': 'MIR4319', 'score': 0.19}, {'connected_gene': 'SETBP1', 'score': 0.08}]
chr18 GH18I044879 44879976 44880125 0.2 [{'connected_gene': 'GC18M044779', 'score': 0.23}, {'connected_gene': 'MIR4319', 'score': 0.16}, {'connected_gene': 'SETBP1', 'score': 0.08}]
chr18 GH18I044869 44869656 44869805 0.65 [{'connected_gene': 'GC18M044779', 'score': 0.26}, {'connected_gene': 'MIR4319', 'score': 0.15}, {'connected_gene': 'SETBP1', 'score': 0.09}]
chr18 GH18I044840 44840200 44840401 0.31 [{'connected_gene': 'GC18M044779', 'score': 0.39}, {'connected_gene': 'MIR4319', 'score': 0.13}, {'connected_gene': 'SETBP1', 'score': 0.1}]
chr18 GH18I044835 44835070 44836489 0.77 [{'connected_gene': 'GC18M044779', 'score': 0.44}, {'connected_gene': 'MIR4319', 'score': 0.12}, {'connected_gene': 'SETBP1', 'score': 0.1}]
chr18 GH18I044880 44880246 44880801 0.2 [{'connected_gene': 'GC18M044779', 'score': 0.23}, {'connected_gene': 'MIR4319', 'score': 0.17}, {'connected_gene': 'SETBP1', 'score': 0.08}]
chr18 GH18I044838 44838895 44839800 1.27 [{'connected_gene': 'GC18M044779', 'score': 0.39}, {'connected_gene': 'MIR4319', 'score': 0.12}, {'connected_gene': 'SETBP1', 'score': 0.1}]
chr18 GH18I044886 44886817 44888462 0.88 [{'connected_gene': 'GC18M044779', 'score': 0.22}, {'connected_gene': 'MIR4319', 'score': 0.18}, {'connected_gene': 'SETBP1', 'score': 0.08}]

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