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
ENST00000345985 [[10710891, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10824692, 10824738], [10829921, 10830098]] [[10712196, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10824692, 10824738], [10829921, 10829987]]
ENST00000381685 [[10711780, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10824692, 10824738], [10829921, 10830093]] [[10712196, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10824692, 10824738], [10829921, 10829987]]
ENST00000542668 [[10711927, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10829921, 10830101]] [[10712196, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822157]]
ENST00000538384 [[10711998, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10822096, 10822195], [10824692, 10824738], [10829921, 10830101]] [[10712196, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10822096, 10822195], [10824692, 10824738], [10829921, 10829987]]
ENST00000431319 [[10762148, 10762276], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816]] [[10762216, 10762276], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816]]
ENST00000473087 [[10813447, 10813683], [10815919, 10815997], [10822096, 10822195], [10829921, 10830101]] None
NM_024894 [[10710891, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10824692, 10824738], [10829921, 10830113]] [[10712196, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10824692, 10824738], [10829921, 10829987]]
NM_001261394 [[10710891, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10824692, 10824738], [10829921, 10830113]] [[10712196, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10824692, 10824738], [10829921, 10829987]]
NM_001261392 [[10710891, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10822096, 10822195], [10824692, 10824738], [10829921, 10830113]] [[10712196, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10822096, 10822195], [10824692, 10824738], [10829921, 10829987]]
NR_048552 [[10710891, 10712316], [10717761, 10717864], [10729168, 10729416], [10729703, 10729877], [10740978, 10741068], [10742901, 10743000], [10743203, 10743283], [10747310, 10747437], [10784445, 10784498], [10794606, 10794673], [10797867, 10798017], [10799297, 10799376], [10803084, 10803170], [10807343, 10807404], [10808783, 10808849], [10811679, 10811816], [10813645, 10813683], [10815919, 10815997], [10822096, 10822195], [10829921, 10830113]] None
Promoter
Chrom Start End Description
chr2 10830094 10830109 CAGE_peak_1_at_NOL10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I011512 11512432 11516423 1 [{'connected_gene': 'GREB1', 'score': 12.47}, {'connected_gene': 'NOL10', 'score': 10.52}, {'connected_gene': 'LOC100506405', 'score': 10.09}, {'connected_gene': 'LPIN1', 'score': 10.09}, {'connected_gene': 'GC02P011518', 'score': 0.77}]
chr2 GH02I010429 10429965 10435755 1.67 [{'connected_gene': 'TAF1B', 'score': 31.73}, {'connected_gene': 'LOC101929882', 'score': 28.23}, {'connected_gene': 'KLF11', 'score': 19.21}, {'connected_gene': 'NOL10', 'score': 18.64}, {'connected_gene': 'C2orf48', 'score': 11.35}, {'connected_gene': 'ENSG00000217258', 'score': 11.32}, {'connected_gene': 'YWHAQ', 'score': 11.31}, {'connected_gene': 'ENSG00000239300', 'score': 10.71}, {'connected_gene': 'CYS1', 'score': 10.4}, {'connected_gene': 'ENSG00000233502', 'score': 10.4}, {'connected_gene': 'ENSG00000257135', 'score': 10.39}, {'connected_gene': 'IAH1', 'score': 6.04}, {'connected_gene': 'GC02M010446', 'score': 0.39}, {'connected_gene': 'SNORA80B', 'score': 0.39}, {'connected_gene': 'PIR41580', 'score': 0.34}]
chr2 GH02I009842 9842538 9845442 2.27 [{'connected_gene': 'TAF1B', 'score': 613.93}, {'connected_gene': 'LOC101929882', 'score': 32.35}, {'connected_gene': 'CPSF3', 'score': 14.76}, {'connected_gene': 'ENSG00000269973', 'score': 11.71}, {'connected_gene': 'NOL10', 'score': 11.48}, {'connected_gene': 'ENSG00000239300', 'score': 10.01}]
chr2 GH02I011494 11494371 11499991 1.43 [{'connected_gene': 'NOL10', 'score': 10.52}, {'connected_gene': 'GREB1', 'score': 0.39}, {'connected_gene': 'GC02P011518', 'score': 0.34}]
chr2 GH02I011122 11122435 11122584 0.81 [{'connected_gene': 'NOL10', 'score': 11.63}, {'connected_gene': 'FLJ33534', 'score': 0.39}, {'connected_gene': 'GC02P011102', 'score': 0.34}]
chr2 GH02I010574 10574725 10577575 0.83 [{'connected_gene': 'NOL10', 'score': 51.62}, {'connected_gene': 'RN7SL832P', 'score': 21.24}, {'connected_gene': 'TAF1B', 'score': 13.32}, {'connected_gene': 'LOC101929882', 'score': 9.78}, {'connected_gene': 'ENSG00000234818', 'score': 0.39}, {'connected_gene': 'LOC105373426', 'score': 0.31}]
chr2 GH02I010571 10571751 10572496 0.2 [{'connected_gene': 'NOL10', 'score': 22.31}, {'connected_gene': 'RN7SL832P', 'score': 10.61}, {'connected_gene': 'ENSG00000234818', 'score': 0.37}, {'connected_gene': 'LOC105373426', 'score': 0.34}]
chr2 GH02I010544 10544110 10544808 0.52 [{'connected_gene': 'NOL10', 'score': 7.41}, {'connected_gene': 'LOC105373426', 'score': 0.77}, {'connected_gene': 'PIR33833', 'score': 0.17}]
chr2 GH02I010579 10579612 10580824 0.58 [{'connected_gene': 'NOL10', 'score': 41.42}, {'connected_gene': 'ENSG00000234818', 'score': 0.44}, {'connected_gene': 'LOC105373426', 'score': 0.29}]
chr2 GH02I010583 10583906 10586280 1.15 [{'connected_gene': 'NOL10', 'score': 41.43}, {'connected_gene': 'ENSG00000234818', 'score': 0.77}, {'connected_gene': 'LOC105373426', 'score': 0.28}]
chr2 GH02I010565 10565114 10566403 0.2 [{'connected_gene': 'NOL10', 'score': 12.07}, {'connected_gene': 'ENSG00000234818', 'score': 11.65}, {'connected_gene': 'LOC105373426', 'score': 0.37}]
chr2 GH02I010513 10513945 10516004 0.8 [{'connected_gene': 'NOL10', 'score': 11.34}, {'connected_gene': 'LOC101929882', 'score': 11.15}, {'connected_gene': 'TAF1B', 'score': 9.88}, {'connected_gene': 'ODC1', 'score': 5.51}, {'connected_gene': 'LOC105373426', 'score': 0.29}, {'connected_gene': 'PIR33833', 'score': 0.22}]
chr2 GH02I011611 11611730 11612639 0.8 [{'connected_gene': 'NOL10', 'score': 11.61}, {'connected_gene': 'GC02P011593', 'score': 0.37}, {'connected_gene': 'CDK8P1', 'score': 0.23}, {'connected_gene': 'GREB1', 'score': 0.13}]
chr2 GH02I010619 10619885 10621170 0.46 [{'connected_gene': 'NOL10', 'score': 40.95}, {'connected_gene': 'ENSG00000234818', 'score': 0.29}, {'connected_gene': 'GC02P010687', 'score': 0.2}]
chr2 GH02I010597 10597644 10598823 0.66 [{'connected_gene': 'NOL10', 'score': 12.48}, {'connected_gene': 'ENSG00000234818', 'score': 0.44}, {'connected_gene': 'GC02P010687', 'score': 0.17}]
chr2 GH02I010379 10379802 10391280 1.46 [{'connected_gene': 'HPCAL1', 'score': 21.57}, {'connected_gene': 'NOL10', 'score': 15.36}, {'connected_gene': 'LOC101929691', 'score': 12.03}, {'connected_gene': 'LOC101929882', 'score': 11.27}, {'connected_gene': 'TAF1B', 'score': 10.52}, {'connected_gene': 'ENSG00000269973', 'score': 5.15}, {'connected_gene': 'PIR41580', 'score': 0.34}]
chr2 GH02I010344 10344801 10345000 0.97 [{'connected_gene': 'HPCAL1', 'score': 15.87}, {'connected_gene': 'LOC101929882', 'score': 13.06}, {'connected_gene': 'KLF11', 'score': 11.04}, {'connected_gene': 'NOL10', 'score': 10.54}, {'connected_gene': 'SNORA80B', 'score': 10.26}, {'connected_gene': 'PIR41580', 'score': 0.2}]
chr2 GH02I010368 10368228 10372255 1.73 [{'connected_gene': 'HPCAL1', 'score': 566.09}, {'connected_gene': 'LOC101929882', 'score': 13.05}, {'connected_gene': 'KLF11', 'score': 11.03}, {'connected_gene': 'NOL10', 'score': 10.55}, {'connected_gene': 'PIR41580', 'score': 0.28}]
chr2 GH02I011132 11132215 11133952 2.02 [{'connected_gene': 'FLJ33534', 'score': 550.77}, {'connected_gene': 'C2orf50', 'score': 550.77}, {'connected_gene': 'PQLC3', 'score': 34.22}, {'connected_gene': 'NOL10', 'score': 10.55}]
chr2 GH02I011465 11464965 11467075 2.11 [{'connected_gene': 'E2F6', 'score': 556.53}, {'connected_gene': 'NOL10', 'score': 11.48}, {'connected_gene': 'PIR33920', 'score': 0.34}, {'connected_gene': 'GC02M011446', 'score': 0.34}]
chr2 GH02I011175 11175201 11176199 0.72 [{'connected_gene': 'RNU6-1081P', 'score': 11.12}, {'connected_gene': 'ROCK2', 'score': 10.99}, {'connected_gene': 'NOL10', 'score': 10.53}, {'connected_gene': 'PQLC3', 'score': 0.34}, {'connected_gene': 'GC02P011234', 'score': 0.22}]
chr2 GH02I010688 10688833 10691000 2.05 [{'connected_gene': 'RN7SL832P', 'score': 556.61}, {'connected_gene': 'NOL10', 'score': 550.77}, {'connected_gene': 'ENSG00000277446', 'score': 550.77}, {'connected_gene': 'TAF1B', 'score': 9.93}, {'connected_gene': 'GC02P010687', 'score': 0.77}]
chr2 GH02I010658 10658291 10659394 0.46 [{'connected_gene': 'RN7SL832P', 'score': 12.32}, {'connected_gene': 'NOL10', 'score': 8.26}, {'connected_gene': 'GC02P010687', 'score': 0.31}, {'connected_gene': 'ENSG00000234818', 'score': 0.2}]
chr2 GH02I010653 10653502 10654837 0.56 [{'connected_gene': 'RN7SL832P', 'score': 12.31}, {'connected_gene': 'GC02P010687', 'score': 0.29}, {'connected_gene': 'NOL10', 'score': 0.28}, {'connected_gene': 'ENSG00000234818', 'score': 0.2}]
chr2 GH02I010634 10634044 10636283 0.69 [{'connected_gene': 'RN7SL832P', 'score': 12.16}, {'connected_gene': 'ENSG00000234818', 'score': 11.18}, {'connected_gene': 'GC02P010687', 'score': 0.23}, {'connected_gene': 'NOL10', 'score': 0.23}]
chr2 GH02I010041 10041592 10045951 2.23 [{'connected_gene': 'LOC101929882', 'score': 586.28}, {'connected_gene': 'KLF11', 'score': 555.72}, {'connected_gene': 'ENSG00000233502', 'score': 12.7}, {'connected_gene': 'NOL10', 'score': 12.42}, {'connected_gene': 'TAF1B', 'score': 12.03}, {'connected_gene': 'ENSG00000239300', 'score': 9.98}, {'connected_gene': 'GRHL1', 'score': 4.94}, {'connected_gene': 'ENSG00000271787', 'score': 0.39}]
chr2 GH02I010809 10809813 10813600 2.01 [{'connected_gene': 'PDIA6', 'score': 556.64}, {'connected_gene': 'NOL10', 'score': 11.46}, {'connected_gene': 'ATP6V1C2', 'score': 11.4}, {'connected_gene': 'LOC101929882', 'score': 10.61}, {'connected_gene': 'LOC105373428', 'score': 6.08}, {'connected_gene': 'RNU7-176P', 'score': 0.77}]
chr2 GH02I011539 11539002 11545945 1.7 [{'connected_gene': 'MIR4429', 'score': 550.77}, {'connected_gene': 'GREB1', 'score': 550.21}, {'connected_gene': 'NOL10', 'score': 10.52}, {'connected_gene': 'LPIN1', 'score': 9.85}, {'connected_gene': 'LOC100506405', 'score': 9.82}, {'connected_gene': 'TRG-CCC7-1', 'score': 0.44}, {'connected_gene': 'GC02P011532', 'score': 0.44}]
chr2 GH02I010493 10493044 10494707 1.34 [{'connected_gene': 'SNORA80B', 'score': 10.84}, {'connected_gene': 'ODC1', 'score': 10.73}, {'connected_gene': 'NOL10', 'score': 1.3}, {'connected_gene': 'PIR33833', 'score': 0.28}, {'connected_gene': 'LOC105373426', 'score': 0.23}]
chr2 GH02I010614 10614995 10615184 0.46 [{'connected_gene': 'ENSG00000234818', 'score': 11.81}, {'connected_gene': 'GC02P010687', 'score': 0.19}, {'connected_gene': 'NOL10', 'score': 0.19}]
chr2 GH02I010668 10668555 10668704 0.59 [{'connected_gene': 'GC02P010687', 'score': 0.37}, {'connected_gene': 'NOL10', 'score': 0.34}, {'connected_gene': 'ENSG00000234818', 'score': 0.18}]
chr2 GH02I010659 10659723 10660644 0.77 [{'connected_gene': 'GC02P010687', 'score': 0.31}, {'connected_gene': 'NOL10', 'score': 0.31}, {'connected_gene': 'ENSG00000234818', 'score': 0.19}]
chr2 GH02I009829 9829912 9832841 1.26 [{'connected_gene': 'ENSG00000269973', 'score': 20.71}, {'connected_gene': 'ENSG00000239300', 'score': 16.52}, {'connected_gene': 'CPSF3', 'score': 16.14}, {'connected_gene': 'NOL10', 'score': 11.36}, {'connected_gene': 'LOC101929882', 'score': 10.66}, {'connected_gene': 'TAF1B', 'score': 0.39}, {'connected_gene': 'LOC105373421', 'score': 0.34}]
chr2 GH02I010296 10296477 10298824 1.3 [{'connected_gene': 'GC02M010296', 'score': 550.77}, {'connected_gene': 'LOC101929882', 'score': 13.46}, {'connected_gene': 'TAF1B', 'score': 12.1}, {'connected_gene': 'NOL10', 'score': 11.64}, {'connected_gene': 'LOC101929691', 'score': 0.77}]

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