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
ENST00000588170 [[42422613, 42422702], [42426525, 42426670], [42426793, 42426919], [42427034, 42427262]] None
ENST00000589536 [[42422629, 42422702], [42422977, 42423109], [42426525, 42426670], [42426793, 42426919], [42427034, 42427104]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427104]]
ENST00000587109 [[42422632, 42422973], [42426525, 42426670], [42426793, 42426842]] [[42426532, 42426670], [42426793, 42426842]]
ENST00000587518 [[42422632, 42422702], [42422933, 42422973], [42426525, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427655]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427655]]
ENST00000053867 [[42422647, 42422702], [42426525, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42427809, 42427945], [42428058, 42428168], [42428404, 42428531], [42428730, 42428828], [42428917, 42429163], [42429382, 42429616], [42429708, 42429939], [42430028, 42430470]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42427809, 42427945], [42428058, 42428168], [42428404, 42428531], [42428730, 42428828], [42428917, 42429163], [42429382, 42429616], [42429708, 42429939], [42430028, 42430166]]
ENST00000588143 [[42422649, 42422702], [42426529, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42427809, 42427837]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42427809, 42427837]]
ENST00000593167 [[42422665, 42422702], [42422977, 42423109], [42423456, 42423596], [42426525, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427693]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427693]]
ENST00000585512 [[42422669, 42422973], [42423456, 42423596], [42426525, 42426643]] [[42426532, 42426643]]
ENST00000592323 [[42422669, 42422702], [42426525, 42426919], [42427034, 42427157]] None
ENST00000591740 [[42422669, 42422702], [42423456, 42423596], [42426525, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427651]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427651]]
ENST00000592783 [[42422669, 42422702], [42422898, 42422973], [42426525, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427672]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427672]]
ENST00000587387 [[42422669, 42422702], [42426525, 42426670], [42426793, 42426919], [42426992, 42427119], [42427595, 42427708], [42427809, 42427879]] [[42426532, 42426670], [42426793, 42426919], [42426992, 42427119], [42427595, 42427708], [42427809, 42427879]]
ENST00000588237 [[42422669, 42422702], [42426525, 42426670], [42426793, 42426919], [42427809, 42427945], [42428058, 42428168], [42428404, 42428412]] [[42426532, 42426670], [42426793, 42426919], [42427809, 42427945], [42428058, 42428168], [42428404, 42428412]]
ENST00000589265 [[42422672, 42422702], [42426525, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42428917, 42429163], [42429382, 42429616], [42429708, 42429939], [42430028, 42430450]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42428917, 42429163], [42429382, 42429616], [42429708, 42429939], [42430028, 42430166]]
ENST00000587958 [[42422673, 42422702], [42426525, 42426670], [42426793, 42427179]] None
ENST00000586782 [[42422681, 42422702], [42426525, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42427829, 42427945], [42428058, 42428168], [42428404, 42428531]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42427829, 42427937]]
ENST00000590984 [[42427656, 42427708], [42427809, 42427945], [42428058, 42428168], [42428404, 42428668]] None
ENST00000586443 [[42427906, 42427945], [42428058, 42428168], [42428404, 42428531], [42428730, 42428828], [42428917, 42429163], [42429382, 42429616], [42429708, 42430411]] [[42427906, 42427945], [42428058, 42428168], [42428404, 42428531], [42428730, 42428828], [42428917, 42429163], [42429382, 42429616], [42429708, 42430020]]
ENST00000589923 [[42428139, 42428168], [42428404, 42428468], [42428730, 42428828], [42428917, 42429163]] None
ENST00000585348 [[42428278, 42428828], [42428917, 42428967]] None
ENST00000586242 [[42429569, 42429616], [42429708, 42429939], [42430083, 42430470]] [[42429569, 42429616], [42429708, 42429939], [42430083, 42430137]]
NM_002087 [[42422453, 42422702], [42426525, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42427809, 42427945], [42428058, 42428168], [42428404, 42428531], [42428730, 42428828], [42428917, 42429163], [42429382, 42429616], [42429708, 42429939], [42430028, 42430474]] [[42426532, 42426670], [42426793, 42426919], [42427034, 42427119], [42427595, 42427708], [42427809, 42427945], [42428058, 42428168], [42428404, 42428531], [42428730, 42428828], [42428917, 42429163], [42429382, 42429616], [42429708, 42429939], [42430028, 42430166]]
Promoter
Chrom Start End Description
chr17 42422629 42422636 CAGE_peak_3_at_GRN_5end
chr17 42422637 42422655 CAGE_peak_2_at_GRN_5end
chr17 42422662 42422678 CAGE_peak_1_at_GRN_5end
chr17 42426327 42426341 CAGE_peak_20_at_GRN_5end
chr17 42426344 42426350 CAGE_peak_29_at_GRN_5end
chr17 42426361 42426388 CAGE_peak_10_at_GRN_5end
chr17 42426403 42426410 CAGE_peak_28_at_GRN_5end
chr17 42426418 42426423 CAGE_peak_30_at_GRN_5end
chr17 42426888 42426897 CAGE_peak_13_at_GRN_5end
chr17 42427826 42427839 CAGE_peak_5_at_GRN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I044212 44212347 44213626 0.52 [{'connected_gene': 'ASB16', 'score': 12.61}, {'connected_gene': 'GRN', 'score': 4.17}, {'connected_gene': 'ENSG00000260793', 'score': 0.44}, {'connected_gene': 'UBTF', 'score': 0.44}, {'connected_gene': 'MIR6782', 'score': 0.44}, {'connected_gene': 'ENSG00000267394', 'score': 0.39}, {'connected_gene': 'LOC101926967', 'score': 0.39}]
chr17 GH17I044374 44374173 44376500 1.02 [{'connected_gene': 'ASB16', 'score': 11.17}, {'connected_gene': 'GRN', 'score': 9.58}, {'connected_gene': 'GC17M044369', 'score': 0.44}, {'connected_gene': 'ITGA2B', 'score': 0.39}]
chr17 GH17I044268 44268490 44271317 0.81 [{'connected_gene': 'SLC4A1', 'score': 590.13}, {'connected_gene': 'GRN', 'score': 5.75}, {'connected_gene': 'SLC25A39', 'score': 3.92}, {'connected_gene': 'UBTF', 'score': 2.39}, {'connected_gene': 'RUNDC3A', 'score': 1.68}, {'connected_gene': 'LOC105371790', 'score': 0.44}]
chr17 GH17I044197 44197228 44201521 2.58 [{'connected_gene': 'ATXN7L3', 'score': 552.22}, {'connected_gene': 'GC17M044204', 'score': 550.77}, {'connected_gene': 'LOC101926967', 'score': 550.77}, {'connected_gene': 'PIR47424', 'score': 550.77}, {'connected_gene': 'ENSG00000267394', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 13.38}, {'connected_gene': 'ASB16-AS1', 'score': 12.21}, {'connected_gene': 'DCAKD', 'score': 12.02}, {'connected_gene': 'UBTF', 'score': 11.91}, {'connected_gene': 'DHX8', 'score': 11.15}, {'connected_gene': 'TMUB2', 'score': 9.82}, {'connected_gene': 'GRN', 'score': 8.11}, {'connected_gene': 'LINC00854', 'score': 5.06}, {'connected_gene': 'NAGS', 'score': 4.1}, {'connected_gene': 'TMEM101', 'score': 2.13}, {'connected_gene': 'HDAC5', 'score': 2.11}, {'connected_gene': 'G6PC3', 'score': 1.44}]
chr17 GH17I044332 44332601 44335199 1.15 [{'connected_gene': 'SLC25A39', 'score': 15.32}, {'connected_gene': 'GRN', 'score': 7.56}, {'connected_gene': 'TMUB2', 'score': 3.02}, {'connected_gene': 'ENSG00000267211', 'score': 0.44}]
chr17 GH17I044337 44337769 44341656 1.34 [{'connected_gene': 'SLC25A39', 'score': 18.6}, {'connected_gene': 'RUNDC3A-AS1', 'score': 17.39}, {'connected_gene': 'GRN', 'score': 15.9}, {'connected_gene': 'TMUB2', 'score': 2.48}, {'connected_gene': 'ENSG00000267211', 'score': 0.39}]
chr17 GH17I044279 44279225 44281002 1.44 [{'connected_gene': 'ASB16-AS1', 'score': 16.21}, {'connected_gene': 'UBTF', 'score': 15.36}, {'connected_gene': 'DHX8', 'score': 12.9}, {'connected_gene': 'TMUB2', 'score': 11.84}, {'connected_gene': 'SLC25A39', 'score': 7.25}, {'connected_gene': 'GRN', 'score': 3.71}, {'connected_gene': 'GPATCH8', 'score': 1.33}, {'connected_gene': 'LOC105371790', 'score': 0.77}, {'connected_gene': 'RN7SL507P', 'score': 0.39}, {'connected_gene': 'GC17M044291', 'score': 0.39}]
chr17 GH17I044344 44344432 44349883 2.56 [{'connected_gene': 'GRN', 'score': 559.57}, {'connected_gene': 'UBTF', 'score': 25.03}, {'connected_gene': 'SLC25A39', 'score': 15.37}, {'connected_gene': 'MEOX1', 'score': 14.91}, {'connected_gene': 'C17orf53', 'score': 12.91}, {'connected_gene': 'RUNDC3A-AS1', 'score': 12.72}, {'connected_gene': 'TMUB2', 'score': 12.6}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.02}, {'connected_gene': 'LSM12', 'score': 11.82}, {'connected_gene': 'RUNDC3A', 'score': 11.39}, {'connected_gene': 'ENSG00000221496', 'score': 11.38}, {'connected_gene': 'RNU6-453P', 'score': 11.38}, {'connected_gene': 'ASB16-AS1', 'score': 11.37}, {'connected_gene': 'ITGA2B', 'score': 11.3}, {'connected_gene': 'ENSG00000224505', 'score': 11.27}, {'connected_gene': 'SLC4A1', 'score': 11.03}, {'connected_gene': 'CD300LG', 'score': 10.56}, {'connected_gene': 'EFTUD2', 'score': 10.44}, {'connected_gene': 'DHX8', 'score': 10.15}, {'connected_gene': 'HEXIM2', 'score': 9.68}, {'connected_gene': 'GC17P044353', 'score': 0.44}, {'connected_gene': 'GC17P044352', 'score': 0.44}]
chr17 GH17I044359 44359909 44364382 1.91 [{'connected_gene': 'FAM171A2', 'score': 555.03}, {'connected_gene': 'GRN', 'score': 9.78}, {'connected_gene': 'KIF18B', 'score': 5.75}, {'connected_gene': 'FAM187A', 'score': 4.17}, {'connected_gene': 'GC17P044353', 'score': 0.44}, {'connected_gene': 'GC17P044352', 'score': 0.44}]
chr17 GH17I044554 44554993 44561476 2.53 [{'connected_gene': 'FZD2', 'score': 553.05}, {'connected_gene': 'GC17M044558', 'score': 550.77}, {'connected_gene': 'DBF4B', 'score': 12.41}, {'connected_gene': 'C17orf53', 'score': 11.94}, {'connected_gene': 'MPP2', 'score': 11.76}, {'connected_gene': 'EFTUD2', 'score': 10.94}, {'connected_gene': 'UBTF', 'score': 10.05}, {'connected_gene': 'MAP3K14-AS1', 'score': 10.04}, {'connected_gene': 'LRRC37A4P', 'score': 9.73}, {'connected_gene': 'GRN', 'score': 8.73}, {'connected_gene': 'GJC1', 'score': 4.64}, {'connected_gene': 'TMUB2', 'score': 2.34}]
chr17 GH17I044443 44443811 44445759 0.65 [{'connected_gene': 'GPATCH8', 'score': 11.48}, {'connected_gene': 'ITGA2B', 'score': 10.9}, {'connected_gene': 'GRN', 'score': 5.72}, {'connected_gene': 'SLC25A39', 'score': 5.51}, {'connected_gene': 'HEXIM2', 'score': 4.8}, {'connected_gene': 'GC17P044475', 'score': 0.29}, {'connected_gene': 'RN7SL258P', 'score': 0.28}]
chr17 GH17I044501 44501519 44504606 2.08 [{'connected_gene': 'GPATCH8', 'score': 550.77}, {'connected_gene': 'ASB16-AS1', 'score': 32.49}, {'connected_gene': 'TMUB2', 'score': 28.45}, {'connected_gene': 'UBTF', 'score': 23.45}, {'connected_gene': 'MAP3K14', 'score': 11.41}, {'connected_gene': 'EFTUD2', 'score': 11.21}, {'connected_gene': 'ENSG00000224505', 'score': 10.73}, {'connected_gene': 'PLEKHM1', 'score': 9.86}, {'connected_gene': 'GRN', 'score': 7.99}, {'connected_gene': 'SLC25A39', 'score': 5.65}, {'connected_gene': 'ENSG00000283045', 'score': 0.37}]
chr17 GH17I044541 44541176 44549252 1.83 [{'connected_gene': 'GPATCH8', 'score': 11.41}, {'connected_gene': 'MEIOC', 'score': 11.33}, {'connected_gene': 'FAM171A2', 'score': 10.4}, {'connected_gene': 'SLC25A39', 'score': 10.39}, {'connected_gene': 'TMUB2', 'score': 7.34}, {'connected_gene': 'FZD2', 'score': 5.43}, {'connected_gene': 'GRN', 'score': 5.1}, {'connected_gene': 'ADAM11', 'score': 4.31}, {'connected_gene': 'TMEM101', 'score': 4.27}, {'connected_gene': 'GJC1', 'score': 1.82}, {'connected_gene': 'LOC105371791', 'score': 0.44}]
chr17 GH17I044307 44307404 44309450 1.95 [{'connected_gene': 'RUNDC3A', 'score': 550.77}, {'connected_gene': 'RNU6-453P', 'score': 550.77}, {'connected_gene': 'TMUB2', 'score': 13.96}, {'connected_gene': 'MAP3K14-AS1', 'score': 12.03}, {'connected_gene': 'LINC00910', 'score': 11.79}, {'connected_gene': 'ENSG00000224505', 'score': 10.65}, {'connected_gene': 'HEXIM1', 'score': 10.04}, {'connected_gene': 'DHX8', 'score': 10.03}, {'connected_gene': 'C17orf53', 'score': 9.88}, {'connected_gene': 'GRN', 'score': 7.97}, {'connected_gene': 'SLC25A39', 'score': 4.46}, {'connected_gene': 'GC17P044298', 'score': 0.44}, {'connected_gene': 'RUNDC3A-AS1', 'score': 0.44}, {'connected_gene': 'GC17P044299', 'score': 0.44}]
chr17 GH17I044793 44793800 44796691 1.5 [{'connected_gene': 'GC17P044797', 'score': 550.77}, {'connected_gene': 'UBTF', 'score': 12.79}, {'connected_gene': 'FAM187A', 'score': 12.61}, {'connected_gene': 'ASB16-AS1', 'score': 11.31}, {'connected_gene': 'EFTUD2', 'score': 8.56}, {'connected_gene': 'GRN', 'score': 2.88}, {'connected_gene': 'FMNL1', 'score': 2.25}, {'connected_gene': 'ENSG00000267505', 'score': 0.77}, {'connected_gene': 'ENSG00000267405', 'score': 0.77}, {'connected_gene': 'GC17M044778', 'score': 0.29}, {'connected_gene': 'GJC1', 'score': 0.28}]
chr17 GH17I044352 44352986 44355781 1.16 [{'connected_gene': 'GC17P044353', 'score': 550.77}, {'connected_gene': 'GC17P044352', 'score': 550.77}, {'connected_gene': 'GRN', 'score': 5.01}, {'connected_gene': 'FAM171A2', 'score': 0.44}]
chr17 GH17I044328 44328600 44328801 0.49 [{'connected_gene': 'ENSG00000267211', 'score': 550.77}, {'connected_gene': 'GRN', 'score': 0.37}]
chr17 GH17I044350 44350853 44351022 0.77 [{'connected_gene': 'GC17P044353', 'score': 550.77}, {'connected_gene': 'GC17P044352', 'score': 550.77}, {'connected_gene': 'GRN', 'score': 0.44}]
chr17 GH17I044331 44331001 44331999 1.01 [{'connected_gene': 'ENSG00000267211', 'score': 0.77}, {'connected_gene': 'GRN', 'score': 0.39}]

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