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
ENST00000269385 [[77765930, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77770728, 77770915]] [[77768433, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77770728, 77770797]]
ENST00000413392 [[77768847, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77772040, 77772130]] [[77768847, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77772040, 77772079]]
ENST00000427800 [[77769002, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77775199, 77775332]] [[77769002, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770333]]
ENST00000485449 [[77769192, 77769357], [77769855, 77769922], [77770048, 77770114], [77775199, 77775482]] None
NM_020649 [[77768175, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77770728, 77770915]] [[77768433, 77769357], [77769855, 77769922], [77770048, 77770114], [77770295, 77770339], [77770728, 77770797]]
Promoter
Chrom Start End Description
chr17 77770830 77770884 CAGE_peak_1_at_CBX8_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I079826 79826188 79826800 1.3 [{'connected_gene': 'EIF4A3', 'score': 17.31}, {'connected_gene': 'CBX8', 'score': 13.32}, {'connected_gene': 'SGSH', 'score': 10.01}, {'connected_gene': 'LINC01977', 'score': 0.77}, {'connected_gene': 'CBX4', 'score': 0.39}]
chr17 GH17I079984 79984528 79995585 2.3 [{'connected_gene': 'EIF4A3', 'score': 25.29}, {'connected_gene': 'CCDC40', 'score': 23.25}, {'connected_gene': 'ENGASE', 'score': 14.06}, {'connected_gene': 'CBX2', 'score': 13.73}, {'connected_gene': 'TBC1D16', 'score': 11.96}, {'connected_gene': 'LOC100294362', 'score': 11.2}, {'connected_gene': 'ENDOV', 'score': 10.82}, {'connected_gene': 'SGSH', 'score': 9.93}, {'connected_gene': 'CANT1', 'score': 9.69}, {'connected_gene': 'ENSG00000262580', 'score': 5.5}, {'connected_gene': 'CBX4', 'score': 3.89}, {'connected_gene': 'CBX8', 'score': 2.16}, {'connected_gene': 'GAA', 'score': 1.26}, {'connected_gene': 'RNF213', 'score': 1.14}, {'connected_gene': 'ENSG00000262172', 'score': 0.77}, {'connected_gene': 'GC17P079977', 'score': 0.39}]
chr17 GH17I079835 79835510 79847030 2.59 [{'connected_gene': 'CBX4', 'score': 550.77}, {'connected_gene': 'USP36', 'score': 19.6}, {'connected_gene': 'CCDC40', 'score': 11.62}, {'connected_gene': 'LOC100294362', 'score': 11.19}, {'connected_gene': 'ENDOV', 'score': 10.8}, {'connected_gene': 'CBX8', 'score': 5.01}, {'connected_gene': 'ENSG00000262343', 'score': 0.44}]
chr17 GH17I079830 79830457 79833869 1.4 [{'connected_gene': 'USP36', 'score': 20.3}, {'connected_gene': 'CCDC40', 'score': 11.62}, {'connected_gene': 'LOC100294362', 'score': 11.19}, {'connected_gene': 'ENDOV', 'score': 10.8}, {'connected_gene': 'CBX8', 'score': 5.38}, {'connected_gene': 'LINC01977', 'score': 0.44}, {'connected_gene': 'CBX4', 'score': 0.44}]
chr17 GH17I079808 79808561 79816578 1.82 [{'connected_gene': 'CBX8', 'score': 15.99}, {'connected_gene': 'EIF4A3', 'score': 15.49}, {'connected_gene': 'CBX2', 'score': 13.41}, {'connected_gene': 'CBX4', 'score': 12.04}, {'connected_gene': 'USP36', 'score': 10.16}, {'connected_gene': 'ENGASE', 'score': 9.73}, {'connected_gene': 'CCDC40', 'score': 4.97}, {'connected_gene': 'PIR54271', 'score': 0.77}, {'connected_gene': 'LOC102723961', 'score': 0.77}]
chr17 GH17I079800 79800292 79802101 1.18 [{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'EIF4A3', 'score': 15.69}, {'connected_gene': 'USP36', 'score': 11.69}, {'connected_gene': 'ENGASE', 'score': 10.72}, {'connected_gene': 'SGSH', 'score': 9.9}, {'connected_gene': 'CANT1', 'score': 9.69}]
chr17 GH17I079792 79792131 79795372 1.2 [{'connected_gene': 'CBX8', 'score': 21.27}, {'connected_gene': 'CBX4', 'score': 11.77}, {'connected_gene': 'ENSG00000262768', 'score': 0.44}, {'connected_gene': 'GC17P079785', 'score': 0.44}]
chr17 GH17I079804 79804095 79804902 1.43 [{'connected_gene': 'CBX8', 'score': 27.29}, {'connected_gene': 'CBX2', 'score': 4.91}, {'connected_gene': 'CBX4', 'score': 1.38}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17 GH17I079757 79757042 79757408 0.39 [{'connected_gene': 'CBX8', 'score': 13.4}, {'connected_gene': 'CBX2', 'score': 2.06}, {'connected_gene': 'ENPP7', 'score': 0.31}]
chr17 GH17I079796 79796011 79798111 2.24 [{'connected_gene': 'CBX8', 'score': 557.22}, {'connected_gene': 'USP36', 'score': 17.41}, {'connected_gene': 'CBX4', 'score': 11.23}, {'connected_gene': 'ENSG00000262768', 'score': 0.77}, {'connected_gene': 'GC17P079785', 'score': 0.39}]
chr17 GH17I079802 79802711 79803099 1.3 [{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'CCDC40', 'score': 1.18}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17 GH17I079219 79219328 79221529 1.13 [{'connected_gene': 'CBX8', 'score': 4.92}, {'connected_gene': 'RBFOX3', 'score': 2.03}, {'connected_gene': 'PIR62880', 'score': 0.39}, {'connected_gene': 'GC17M079268', 'score': 0.23}]
chr17 GH17I079801 79799942 79800011 0.76 [{'connected_gene': 'CBX8', 'score': 550.77}, {'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'GC17P079785', 'score': 0.39}]
chr17 GH17I079803 79803961 79803993 0.66 [{'connected_gene': 'CBX8', 'score': 0.77}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17 GH17I079805 79803668 79803909 0.72 [{'connected_gene': 'CBX8', 'score': 0.77}, {'connected_gene': 'PIR54271', 'score': 0.39}]
chr17 GH17I080218 80218289 80222793 2.01 [{'connected_gene': 'SLC26A11', 'score': 571.22}, {'connected_gene': 'SGSH', 'score': 550.77}, {'connected_gene': 'ENSG00000262580', 'score': 24.5}, {'connected_gene': 'CARD14', 'score': 12.33}, {'connected_gene': 'CBX8', 'score': 10.08}, {'connected_gene': 'GC17P080181', 'score': 0.28}]
chr17 GH17I079798 79798922 79799071 0.59 [{'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.23}, {'connected_gene': 'CBX8', 'score': 0.77}, {'connected_gene': 'GC17P079785', 'score': 0.39}]
chr17 GH17I079799 79798402 79798911 0.9 [{'connected_gene': 'ENSG00000262768', 'score': 550.77}, {'connected_gene': 'CBX4', 'score': 11.23}, {'connected_gene': 'CBX8', 'score': 0.77}, {'connected_gene': 'GC17P079785', 'score': 0.39}]
chr17 GH17I079849 79849492 79852110 1.1 [{'connected_gene': 'ENSG00000262343', 'score': 550.77}, {'connected_gene': 'CBX8', 'score': 5.63}, {'connected_gene': 'GC17M079892', 'score': 0.26}]
chr17 GH17I080453 80453301 80458286 2.05 [{'connected_gene': 'ENSG00000260369', 'score': 550.77}, {'connected_gene': 'CEP131', 'score': 22.43}, {'connected_gene': 'TEPSIN', 'score': 13.64}, {'connected_gene': 'TBC1D16', 'score': 11.47}, {'connected_gene': 'LOC105371925', 'score': 10.61}, {'connected_gene': 'CBX8', 'score': 10.07}, {'connected_gene': 'NPTX1', 'score': 6.54}, {'connected_gene': 'EIF4A3', 'score': 6.4}, {'connected_gene': 'SGSH', 'score': 4.38}, {'connected_gene': 'GAA', 'score': 2.02}, {'connected_gene': 'SLC26A11', 'score': 1.18}, {'connected_gene': 'ENSG00000279273', 'score': 0.44}]