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
ENST00000381527 [[26828275, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26956950, 26957008], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975761], [26978092, 26979375]] [[26828778, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26956950, 26957008], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975761], [26978092, 26978218]]
ENST00000536792 [[26828778, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975761], [26978092, 26978218]] [[26828778, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26959347, 26959386]]
ENST00000477290 [[26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974652]] None
ENST00000465820 [[26959347, 26959479], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975736]] None
ENST00000477277 [[26970353, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975761], [26978092, 26979315]] None
ENST00000480323 [[26974209, 26974687], [26975405, 26975484], [26975605, 26975761], [26978092, 26979375]] None
NM_001346501 [[26828240, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975761], [26978092, 26979375]] [[26959352, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975761], [26978092, 26978218]]
NM_001318368 [[26828240, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26956950, 26957008], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975605, 26975761], [26978092, 26979375]] [[26828778, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26956950, 26957008], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975605, 26975761], [26978092, 26978218]]
NM_001260 [[26828240, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26956950, 26957008], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975761], [26978092, 26979375]] [[26828778, 26828906], [26911703, 26911779], [26923208, 26923319], [26927876, 26928017], [26956950, 26957008], [26959347, 26959479], [26967503, 26967647], [26970421, 26970491], [26971289, 26971362], [26974589, 26974687], [26975405, 26975484], [26975602, 26975761], [26978092, 26978218]]
Promoter
Chrom Start End Description
chr13 26828235 26828274 CAGE_peak_1_at_CDK8_5end
chr13 26828275 26828312 CAGE_peak_2_at_CDK8_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I025300 25300593 25303152 2.22 [{'connected_gene': 'NUP58', 'score': 559.21}, {'connected_gene': 'GC13P025300', 'score': 550.77}, {'connected_gene': 'ENSG00000260509', 'score': 550.77}, {'connected_gene': 'CDK8', 'score': 10.38}, {'connected_gene': 'MTMR6', 'score': 6.21}, {'connected_gene': 'GC13P025348', 'score': 0.25}]
chr13 GH13I026441 26441961 26443707 0.58 [{'connected_gene': 'RNF6', 'score': 10.05}, {'connected_gene': 'CDK8', 'score': 8.05}, {'connected_gene': 'GC13P026404', 'score': 0.28}, {'connected_gene': 'WASF3', 'score': 0.14}]
chr13 GH13I025881 25881100 25882894 1.08 [{'connected_gene': 'SHISA2', 'score': 10.54}, {'connected_gene': 'LINC00415', 'score': 10.54}, {'connected_gene': 'CDK8', 'score': 4.43}, {'connected_gene': 'PIR50437', 'score': 0.37}, {'connected_gene': 'GC13P025866', 'score': 0.37}, {'connected_gene': 'RN7SL741P', 'score': 0.21}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I026961 26961004 26972831 1.41 [{'connected_gene': 'RNU6-70P', 'score': 11.76}, {'connected_gene': 'CDK8', 'score': 10.38}, {'connected_gene': 'MTIF3', 'score': 5.37}, {'connected_gene': 'POLR1D', 'score': 4.58}, {'connected_gene': 'RPS21P8', 'score': 0.39}, {'connected_gene': 'ENSG00000283579', 'score': 0.31}, {'connected_gene': 'FGFR1OP2P1', 'score': 0.21}]
chr13 GH13I026253 26253401 26256547 2.02 [{'connected_gene': 'CDK8', 'score': 550.77}, {'connected_gene': 'RNF6', 'score': 11.67}, {'connected_gene': 'ENSG00000278413', 'score': 0.15}]
chr13 GH13I026468 26468430 26469333 0.4 [{'connected_gene': 'CDK8', 'score': 5.12}, {'connected_gene': 'GC13P026404', 'score': 0.21}, {'connected_gene': 'WASF3', 'score': 0.17}]
chr13 GH13I026469 26469638 26470376 0.31 [{'connected_gene': 'CDK8', 'score': 5.12}, {'connected_gene': 'GC13P026404', 'score': 0.2}, {'connected_gene': 'WASF3', 'score': 0.17}]
chr13 GH13I026473 26473620 26474568 0.2 [{'connected_gene': 'CDK8', 'score': 4.86}, {'connected_gene': 'GC13P026404', 'score': 0.2}, {'connected_gene': 'WASF3', 'score': 0.18}]
chr13 GH13I026430 26430545 26432516 0.31 [{'connected_gene': 'CDK8', 'score': 8.2}, {'connected_gene': 'GC13P026404', 'score': 0.31}, {'connected_gene': 'WASF3', 'score': 0.13}]
chr13 GH13I026422 26422801 26426914 0.86 [{'connected_gene': 'CDK8', 'score': 8.16}, {'connected_gene': 'GC13P026404', 'score': 0.37}, {'connected_gene': 'WASF3', 'score': 0.12}]
chr13 GH13I026432 26432811 26434764 0.31 [{'connected_gene': 'CDK8', 'score': 8.36}, {'connected_gene': 'GC13P026404', 'score': 0.31}, {'connected_gene': 'WASF3', 'score': 0.13}]
chr13 GH13I025888 25888313 25888563 0.59 [{'connected_gene': 'CDK8', 'score': 4.0}, {'connected_gene': 'PIR50437', 'score': 0.34}, {'connected_gene': 'GC13P025866', 'score': 0.34}, {'connected_gene': 'RN7SL741P', 'score': 0.22}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I025900 25900810 25904072 1.35 [{'connected_gene': 'CDK8', 'score': 5.34}, {'connected_gene': 'PIR50437', 'score': 0.28}, {'connected_gene': 'GC13P025866', 'score': 0.28}, {'connected_gene': 'RN7SL741P', 'score': 0.26}, {'connected_gene': 'ATP8A2', 'score': 0.03}]
chr13 GH13I026247 26247301 26248626 0.89 [{'connected_gene': 'CDK8', 'score': 0.44}, {'connected_gene': 'PIR37941', 'score': 0.39}, {'connected_gene': 'GC13M026237', 'score': 0.39}]
chr13 GH13I026280 26280364 26280513 0.43 [{'connected_gene': 'CDK8', 'score': 0.31}, {'connected_gene': 'ENSG00000278413', 'score': 0.18}]
chr13 GH13I026401 26401724 26401873 0.43 [{'connected_gene': 'GC13P026404', 'score': 0.77}, {'connected_gene': 'GC13P026389', 'score': 0.39}, {'connected_gene': 'CDK8', 'score': 0.11}]
chr13 GH13I026327 26327680 26328733 0.31 [{'connected_gene': 'ENSG00000278413', 'score': 0.29}, {'connected_gene': 'CDK8', 'score': 0.19}]

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