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
ENST00000263360 [[85955585, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85988021, 85988180], [85988959, 85989033], [85989440, 85989778]] [[85956271, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85988021, 85988180], [85988959, 85989033], [85989440, 85989567]]
ENST00000528180 [[85955794, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85988021, 85988180], [85988959, 85989033], [85989440, 85989749]] [[85956271, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85988021, 85988180], [85988959, 85989033], [85989440, 85989567]]
ENST00000327320 [[85956181, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85988021, 85988180], [85988959, 85989777]] [[85956271, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85988021, 85988180], [85988959, 85989037]]
ENST00000351625 [[85956264, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85981124, 85981199], [85988021, 85988180], [85988959, 85989033], [85989440, 85989855]] [[85956271, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85981124, 85981199], [85988021, 85988180], [85988959, 85989033], [85989440, 85989567]]
ENST00000534595 [[85956275, 85956385], [85988021, 85988180], [85988959, 85989403]] [[85956275, 85956385], [85988021, 85988180], [85988959, 85989037]]
ENST00000525244 [[85956309, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85988021, 85988577]] None
ENST00000534564 [[85974986, 85977258], [85979497, 85979603], [85988021, 85988180], [85988959, 85989033], [85989440, 85989596]] None
ENST00000524673 [[85978936, 85979603], [85981124, 85981199], [85988021, 85988180], [85988959, 85989033], [85989440, 85989620]] None
ENST00000533228 [[85974986, 85975305], [85977124, 85977258], [85979497, 85979572]] None
ENST00000527888 [[85987173, 85988180], [85988959, 85989033], [85989440, 85989781]] [[85988060, 85988180], [85988959, 85989033], [85989440, 85989567]]
ENST00000528250 [[85988139, 85989033], [85989440, 85989781]] None
NM_001330334 [[85955425, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85988021, 85988180], [85988959, 85989033], [85989440, 85989852]] [[85956271, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85988021, 85988180], [85988959, 85989033], [85989440, 85989567]]
NM_003797 [[85955425, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85988021, 85988180], [85988959, 85989033], [85989440, 85989852]] [[85956271, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85988021, 85988180], [85988959, 85989033], [85989440, 85989567]]
NM_001308007 [[85955425, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85981124, 85981199], [85988021, 85988180], [85988959, 85989033], [85989440, 85989852]] [[85956271, 85956385], [85961337, 85961490], [85963189, 85963282], [85966263, 85966329], [85967428, 85967554], [85968556, 85968638], [85975213, 85975305], [85977124, 85977258], [85979497, 85979603], [85981124, 85981199], [85988021, 85988180], [85988959, 85989033], [85989440, 85989567]]
Promoter
Chrom Start End Description
chr11 85955787 85955854 CAGE_peak_1_at_EED_5end
chr11 85955906 85955915 CAGE_peak_6_at_EED_5end
chr11 85956225 85956289 CAGE_peak_2_at_EED_5end
chr11 85956293 85956318 CAGE_peak_3_at_EED_5end
chr11 85956323 85956338 CAGE_peak_7_at_EED_5end
chr11 85956340 85956357 CAGE_peak_9_at_EED_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I086930 86930274 86935351 1.58 [{'connected_gene': 'EED', 'score': 15.0}, {'connected_gene': 'ENSG00000255471', 'score': 6.67}, {'connected_gene': 'FZD4', 'score': 0.34}, {'connected_gene': 'PRSS23', 'score': 0.11}]
chr11 GH11I085999 85999117 86000542 0.2 [{'connected_gene': 'EED', 'score': 11.0}, {'connected_gene': 'PICALM', 'score': 10.84}, {'connected_gene': 'HIKESHI', 'score': 10.59}, {'connected_gene': 'CCDC83', 'score': 10.33}, {'connected_gene': 'SLC25A1P1', 'score': 0.2}]
chr11 GH11I086036 86035201 86035400 0.58 [{'connected_gene': 'EED', 'score': 11.59}, {'connected_gene': 'PICALM', 'score': 11.47}, {'connected_gene': 'RNU6-560P', 'score': 11.28}, {'connected_gene': 'SLC25A1P1', 'score': 0.15}]
chr11 GH11I085947 85947202 85948799 0.96 [{'connected_gene': 'EED', 'score': 10.71}, {'connected_gene': 'PICALM', 'score': 5.57}, {'connected_gene': 'SLC25A1P1', 'score': 0.39}]
chr11 GH11I086152 86148387 86148636 1.13 [{'connected_gene': 'EED', 'score': 2.49}, {'connected_gene': 'GC11P086154', 'score': 0.77}, {'connected_gene': 'PICALM', 'score': 0.18}]
chr11 GH11I087081 87081226 87082053 0.54 [{'connected_gene': 'EED', 'score': 9.81}, {'connected_gene': 'TMEM135', 'score': 5.17}, {'connected_gene': 'XIAPP2', 'score': 0.39}]
chr11 GH11I086171 86171401 86180801 1.72 [{'connected_gene': 'EED', 'score': 50.5}, {'connected_gene': 'CREBZF', 'score': 49.62}, {'connected_gene': 'PICALM', 'score': 19.71}, {'connected_gene': 'RNU6-560P', 'score': 13.52}, {'connected_gene': 'LOC100289518', 'score': 10.38}, {'connected_gene': 'ENSG00000254699', 'score': 0.37}]
chr11 GH11I086243 86243226 86246894 2.3 [{'connected_gene': 'EED', 'score': 573.48}, {'connected_gene': 'CREBZF', 'score': 25.66}, {'connected_gene': 'HIKESHI', 'score': 23.26}, {'connected_gene': 'MIR6755', 'score': 0.29}]
chr11 GH11I086206 86205378 86206399 1.41 [{'connected_gene': 'EED', 'score': 11.53}, {'connected_gene': 'RNU6-560P', 'score': 11.47}, {'connected_gene': 'HIKESHI', 'score': 4.96}, {'connected_gene': 'PICALM', 'score': 4.51}, {'connected_gene': 'FNTAP1', 'score': 0.39}, {'connected_gene': 'ENSG00000276669', 'score': 0.39}]
chr11 GH11I086247 86247719 86247908 0.8 [{'connected_gene': 'EED', 'score': 0.77}, {'connected_gene': 'MIR6755', 'score': 0.29}]
chr11 GH11I086998 86998656 87001559 1.25 [{'connected_gene': 'EED', 'score': 15.5}, {'connected_gene': 'LOC100420680', 'score': 12.89}, {'connected_gene': 'LOC100506368', 'score': 9.56}, {'connected_gene': 'CCDC81', 'score': 6.85}, {'connected_gene': 'GC11P086992', 'score': 0.44}, {'connected_gene': 'GC11M086989', 'score': 0.34}]
chr11 GH11I086182 86182002 86185754 1.63 [{'connected_gene': 'EED', 'score': 23.27}, {'connected_gene': 'LOC100289518', 'score': 19.6}, {'connected_gene': 'CREBZF', 'score': 18.2}, {'connected_gene': 'PICALM', 'score': 14.94}, {'connected_gene': 'RNU6-560P', 'score': 12.66}, {'connected_gene': 'HIKESHI', 'score': 9.97}, {'connected_gene': 'ENSG00000254699', 'score': 0.44}]
chr11 GH11I086287 86287966 86288489 0.2 [{'connected_gene': 'EED', 'score': 11.39}, {'connected_gene': 'ENSG00000255005', 'score': 10.42}, {'connected_gene': 'LOC100289518', 'score': 0.77}, {'connected_gene': 'SETP17', 'score': 0.44}]
chr11 GH11I086288 86287199 86287388 0.75 [{'connected_gene': 'EED', 'score': 11.39}, {'connected_gene': 'ENSG00000255005', 'score': 10.42}, {'connected_gene': 'LOC100289518', 'score': 0.77}, {'connected_gene': 'SETP17', 'score': 0.44}]
chr11 GH11I085946 85946001 85946601 0.99 [{'connected_gene': 'EED', 'score': 10.71}, {'connected_gene': 'SLC25A1P1', 'score': 0.39}, {'connected_gene': 'PICALM', 'score': 0.13}]
chr11 GH11I086291 86291801 86292201 1.02 [{'connected_gene': 'EED', 'score': 5.15}, {'connected_gene': 'SETP17', 'score': 0.77}, {'connected_gene': 'LOC100289518', 'score': 0.44}]
chr11 GH11I086041 86041203 86042899 1.07 [{'connected_gene': 'PICALM', 'score': 17.85}, {'connected_gene': 'EED', 'score': 11.59}, {'connected_gene': 'CCDC83', 'score': 11.41}, {'connected_gene': 'RNU6-560P', 'score': 11.38}, {'connected_gene': 'SLC25A1P1', 'score': 0.14}]
chr11 GH11I086060 86060988 86071370 2.32 [{'connected_gene': 'PICALM', 'score': 558.28}, {'connected_gene': 'CREBZF', 'score': 27.35}, {'connected_gene': 'EED', 'score': 26.48}, {'connected_gene': 'CCDC83', 'score': 10.99}, {'connected_gene': 'SLC25A1P1', 'score': 0.12}]
chr11 GH11I086035 86035959 86037049 0.49 [{'connected_gene': 'PICALM', 'score': 19.08}, {'connected_gene': 'CCDC83', 'score': 11.65}, {'connected_gene': 'EED', 'score': 11.59}, {'connected_gene': 'RNU6-560P', 'score': 11.28}, {'connected_gene': 'SLC25A1P1', 'score': 0.15}]
chr11 GH11I086134 86134339 86135700 1.56 [{'connected_gene': 'PICALM', 'score': 15.38}, {'connected_gene': 'CCDC83', 'score': 6.25}, {'connected_gene': 'EED', 'score': 1.81}, {'connected_gene': 'GC11P086154', 'score': 0.37}]
chr11 GH11I086201 86201201 86203999 1.68 [{'connected_gene': 'PICALM', 'score': 27.44}, {'connected_gene': 'RNU6-560P', 'score': 12.33}, {'connected_gene': 'EED', 'score': 11.13}, {'connected_gene': 'HIKESHI', 'score': 5.2}, {'connected_gene': 'CCDC81', 'score': 4.92}, {'connected_gene': 'FNTAP1', 'score': 0.44}, {'connected_gene': 'ENSG00000276669', 'score': 0.39}]
chr11 GH11I086046 86046259 86046408 0.51 [{'connected_gene': 'PICALM', 'score': 13.29}, {'connected_gene': 'RNU6-560P', 'score': 12.13}, {'connected_gene': 'EED', 'score': 11.37}, {'connected_gene': 'HIKESHI', 'score': 10.6}, {'connected_gene': 'SLC25A1P1', 'score': 0.14}]
chr11 GH11I086115 86115485 86118063 0.98 [{'connected_gene': 'PICALM', 'score': 18.51}, {'connected_gene': 'RNU6-560P', 'score': 12.16}, {'connected_gene': 'EED', 'score': 9.91}, {'connected_gene': 'GC11P086154', 'score': 0.28}]
chr11 GH11I086043 86043231 86043764 0.63 [{'connected_gene': 'PICALM', 'score': 12.06}, {'connected_gene': 'RNU6-560P', 'score': 11.39}, {'connected_gene': 'CCDC83', 'score': 11.13}, {'connected_gene': 'EED', 'score': 11.04}, {'connected_gene': 'SLC25A1P1', 'score': 0.14}]
chr11 GH11I085961 85961182 85963060 0.84 [{'connected_gene': 'CREBZF', 'score': 25.35}, {'connected_gene': 'EED', 'score': 24.55}, {'connected_gene': 'CCDC83', 'score': 11.48}, {'connected_gene': 'LOC100289518', 'score': 10.68}, {'connected_gene': 'HIKESHI', 'score': 10.13}, {'connected_gene': 'CCDC89', 'score': 9.01}, {'connected_gene': 'PICALM', 'score': 7.38}, {'connected_gene': 'SLC25A1P1', 'score': 0.31}]
chr11 GH11I086475 86475897 86478555 1.14 [{'connected_gene': 'CREBZF', 'score': 11.92}, {'connected_gene': 'EED', 'score': 11.26}, {'connected_gene': 'LOC100420680', 'score': 9.98}, {'connected_gene': 'ME3', 'score': 9.51}, {'connected_gene': 'PRSS23', 'score': 8.07}, {'connected_gene': 'PIR54337', 'score': 0.37}, {'connected_gene': 'GC11M086459', 'score': 0.37}, {'connected_gene': 'ENSG00000254733', 'score': 0.25}]
chr11 GH11I086370 86370804 86371838 0.93 [{'connected_gene': 'CREBZF', 'score': 27.33}, {'connected_gene': 'EED', 'score': 15.6}, {'connected_gene': 'LOC100420680', 'score': 12.86}, {'connected_gene': 'HIKESHI', 'score': 9.71}, {'connected_gene': 'CCDC81', 'score': 0.77}, {'connected_gene': 'LOC105369421', 'score': 0.37}]
chr11 GH11I085661 85661800 85667255 2.26 [{'connected_gene': 'CREBZF', 'score': 550.37}, {'connected_gene': 'TMEM126A', 'score': 12.61}, {'connected_gene': 'EED', 'score': 9.82}, {'connected_gene': 'CCDC89', 'score': 9.0}, {'connected_gene': 'SYTL2', 'score': 6.68}, {'connected_gene': 'GC11M085678', 'score': 0.37}]
chr11 GH11I085821 85821218 85825024 0.88 [{'connected_gene': 'CREBZF', 'score': 11.25}, {'connected_gene': 'CCDC83', 'score': 10.78}, {'connected_gene': 'CCDC89', 'score': 9.97}, {'connected_gene': 'TMEM126A', 'score': 4.11}, {'connected_gene': 'SYTL2', 'score': 1.79}, {'connected_gene': 'EED', 'score': 1.73}, {'connected_gene': 'ENSG00000279742', 'score': 0.29}]
chr11 GH11I086589 86589776 86597975 1.41 [{'connected_gene': 'ME3', 'score': 37.81}, {'connected_gene': 'EED', 'score': 35.12}, {'connected_gene': 'CREBZF', 'score': 27.28}, {'connected_gene': 'ENSG00000279742', 'score': 22.79}, {'connected_gene': 'LOC100420680', 'score': 11.51}, {'connected_gene': 'TMEM126B', 'score': 10.12}, {'connected_gene': 'CCDC89', 'score': 10.06}, {'connected_gene': 'PRSS23', 'score': 5.76}, {'connected_gene': 'GC11P086590', 'score': 0.77}, {'connected_gene': 'PIR37636', 'score': 0.77}, {'connected_gene': 'PIR51163', 'score': 0.34}, {'connected_gene': 'GC11M086573', 'score': 0.13}, {'connected_gene': 'ENSG00000254733', 'score': 0.1}]
chr11 GH11I085751 85751343 85754235 1.02 [{'connected_gene': 'SYTL2', 'score': 24.13}, {'connected_gene': 'CREBZF', 'score': 11.92}, {'connected_gene': 'CCDC89', 'score': 10.38}, {'connected_gene': 'ENSG00000279742', 'score': 4.66}, {'connected_gene': 'EED', 'score': 1.4}]
chr11 GH11I086218 86218134 86220433 1.29 [{'connected_gene': 'HIKESHI', 'score': 18.81}, {'connected_gene': 'EED', 'score': 12.12}, {'connected_gene': 'PICALM', 'score': 11.84}, {'connected_gene': 'RNU6-560P', 'score': 11.75}, {'connected_gene': 'CCDC81', 'score': 5.24}, {'connected_gene': 'ENSG00000276669', 'score': 0.77}]
chr11 GH11I086301 86301579 86303510 2.09 [{'connected_gene': 'HIKESHI', 'score': 556.54}, {'connected_gene': 'EED', 'score': 28.23}, {'connected_gene': 'CREBZF', 'score': 16.36}, {'connected_gene': 'RN7SL225P', 'score': 0.34}]
chr11 GH11I086274 86274619 86274768 0.43 [{'connected_gene': 'HIKESHI', 'score': 11.89}, {'connected_gene': 'EED', 'score': 11.46}, {'connected_gene': 'PRSS23', 'score': 4.87}, {'connected_gene': 'MIR6755', 'score': 0.77}]
chr11 GH11I086230 86230319 86230473 0.49 [{'connected_gene': 'HIKESHI', 'score': 15.09}, {'connected_gene': 'RNU6-560P', 'score': 10.56}, {'connected_gene': 'PICALM', 'score': 10.38}, {'connected_gene': 'EED', 'score': 0.39}, {'connected_gene': 'ENSG00000276669', 'score': 0.39}]
chr11 GH11I085626 85626757 85629794 2.04 [{'connected_gene': 'DLG2', 'score': 559.88}, {'connected_gene': 'TMEM126B', 'score': 550.77}, {'connected_gene': 'CREBZF', 'score': 27.53}, {'connected_gene': 'EED', 'score': 15.5}, {'connected_gene': 'TMEM126A', 'score': 10.88}, {'connected_gene': 'SYTL2', 'score': 10.49}, {'connected_gene': 'RNU6-1292P', 'score': 0.13}]
chr11 GH11I086192 86192372 86194268 1.74 [{'connected_gene': 'FNTAP1', 'score': 550.77}, {'connected_gene': 'ENSG00000254699', 'score': 550.77}, {'connected_gene': 'CREBZF', 'score': 30.07}, {'connected_gene': 'EED', 'score': 15.71}, {'connected_gene': 'RNU6-560P', 'score': 12.34}, {'connected_gene': 'PICALM', 'score': 11.4}, {'connected_gene': 'CCDC81', 'score': 4.36}]
chr11 GH11I086030 86030185 86031964 0.38 [{'connected_gene': 'CCDC83', 'score': 11.15}, {'connected_gene': 'EED', 'score': 10.85}, {'connected_gene': 'RNU6-560P', 'score': 10.46}, {'connected_gene': 'HIKESHI', 'score': 9.94}, {'connected_gene': 'PICALM', 'score': 0.28}, {'connected_gene': 'SLC25A1P1', 'score': 0.15}]
chr11 GH11I086734 86734911 86749108 1.74 [{'connected_gene': 'PRSS23', 'score': 19.05}, {'connected_gene': 'EED', 'score': 15.52}, {'connected_gene': 'LOC100420680', 'score': 12.86}, {'connected_gene': 'ME3', 'score': 11.14}, {'connected_gene': 'LOC102724775', 'score': 6.32}]
chr11 GH11I086186 86186281 86186700 0.63 [{'connected_gene': 'RNU6-560P', 'score': 12.55}, {'connected_gene': 'EED', 'score': 10.55}, {'connected_gene': 'HIKESHI', 'score': 9.97}, {'connected_gene': 'ENSG00000254699', 'score': 0.44}]
chr11 GH11I086205 86205001 86205200 0.4 [{'connected_gene': 'RNU6-560P', 'score': 11.47}, {'connected_gene': 'EED', 'score': 11.14}, {'connected_gene': 'FNTAP1', 'score': 0.44}, {'connected_gene': 'ENSG00000276669', 'score': 0.39}]
chr11 GH11I086204 86204601 86204800 0.4 [{'connected_gene': 'RNU6-560P', 'score': 11.47}, {'connected_gene': 'EED', 'score': 11.14}, {'connected_gene': 'FNTAP1', 'score': 0.44}, {'connected_gene': 'ENSG00000276669', 'score': 0.39}]
chr11 GH11I086951 86951401 86957321 2.43 [{'connected_gene': 'LOC100506368', 'score': 550.77}, {'connected_gene': 'FZD4', 'score': 550.77}, {'connected_gene': 'EED', 'score': 15.64}, {'connected_gene': 'CCDC81', 'score': 6.63}, {'connected_gene': 'ENSG00000255471', 'score': 4.53}, {'connected_gene': 'ME3', 'score': 4.29}, {'connected_gene': 'PRSS23', 'score': 0.1}]
chr11 GH11I086293 86293379 86293528 0.49 [{'connected_gene': 'SETP17', 'score': 550.77}, {'connected_gene': 'EED', 'score': 5.03}, {'connected_gene': 'LOC100289518', 'score': 0.44}]
chr11 GH11I086214 86214859 86215008 0.78 [{'connected_gene': 'ENSG00000276669', 'score': 550.77}, {'connected_gene': 'PICALM', 'score': 11.84}, {'connected_gene': 'RNU6-560P', 'score': 11.75}, {'connected_gene': 'EED', 'score': 11.73}, {'connected_gene': 'FNTAP1', 'score': 0.37}]
chr11 GH11I086923 86923699 86925916 1.33 [{'connected_gene': 'ENSG00000255471', 'score': 550.77}, {'connected_gene': 'LOC100420680', 'score': 14.62}, {'connected_gene': 'EED', 'score': 14.2}, {'connected_gene': 'ENSG00000280339', 'score': 0.39}, {'connected_gene': 'PRSS23', 'score': 0.12}]

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