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
ENST00000394332 [[37004117, 37004292], [37006369, 37006467], [37006614, 37006728], [37008856, 37008985], [37009274, 37009358], [37009950, 37009975]] [[37006384, 37006467], [37006614, 37006728], [37008856, 37008985], [37009274, 37009358], [37009950, 37009963]]
ENST00000394333 [[37004117, 37004310], [37008856, 37008985], [37009274, 37009358], [37009950, 37009988]] [[37004191, 37004310], [37008856, 37008985], [37009274, 37009358], [37009950, 37009963]]
ENST00000479035 [[37004119, 37006467], [37006614, 37006728], [37008856, 37008985], [37009274, 37009358], [37009950, 37010096]] [[37006384, 37006467], [37006614, 37006728], [37008856, 37008985], [37009274, 37009358], [37009950, 37009963]]
ENST00000245857 [[37006333, 37006467], [37006614, 37006728], [37008856, 37008985], [37009274, 37009358], [37009554, 37009681]] [[37006384, 37006467], [37006614, 37006728], [37008856, 37008905]]
ENST00000584912 [[37006333, 37008985], [37009274, 37009358], [37009950, 37009993]] None
ENST00000584583 [[37006338, 37006467], [37006614, 37006914]] None
ENST00000577407 [[37006366, 37006728], [37008856, 37008985], [37009274, 37009358], [37009950, 37009990]] [[37006585, 37006728], [37008856, 37008985], [37009274, 37009358], [37009950, 37009963]]
ENST00000470646 [[37006674, 37006728], [37008856, 37008985], [37009274, 37009358], [37009611, 37009677]] [[37006674, 37006728], [37008856, 37008905]]
ENST00000378096 [[37006691, 37006728], [37008856, 37008985], [37009274, 37009358], [37009740, 37009882]] [[37006691, 37006728], [37008856, 37008985], [37009274, 37009358], [37009740, 37009765]]
ENST00000577760 [[37006936, 37010017]] None
ENST00000584056 [[37008850, 37009358], [37009950, 37009991]] None
NM_000978 [[37006320, 37006467], [37006614, 37006728], [37008856, 37008985], [37009274, 37009358], [37009950, 37010053]] [[37006384, 37006467], [37006614, 37006728], [37008856, 37008985], [37009274, 37009358], [37009950, 37009963]]
Promoter
Chrom Start End Description
chr17 37009968 37009998 CAGE_peak_1_at_RPL23_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr17 GH17I038483 38483943 38486003 1.05 [{'connected_gene': 'MED1', 'score': 15.44}, {'connected_gene': 'ARHGAP23', 'score': 12.33}, {'connected_gene': 'SOCS7', 'score': 11.39}, {'connected_gene': 'SNORA21', 'score': 10.35}, {'connected_gene': 'CDK12', 'score': 10.2}, {'connected_gene': 'RPL23', 'score': 10.17}, {'connected_gene': 'GC17P038487', 'score': 0.77}, {'connected_gene': 'PIR32449', 'score': 0.39}]
chr17 GH17I039449 39449938 39452469 2.05 [{'connected_gene': 'MED1', 'score': 563.88}, {'connected_gene': 'CDK12', 'score': 29.9}, {'connected_gene': 'SNORA21', 'score': 25.5}, {'connected_gene': 'MSL1', 'score': 21.22}, {'connected_gene': 'RPL19', 'score': 18.67}, {'connected_gene': 'STARD3', 'score': 15.39}, {'connected_gene': 'LOC105371762', 'score': 14.47}, {'connected_gene': 'SNORD124', 'score': 14.23}, {'connected_gene': 'RPL23', 'score': 10.95}, {'connected_gene': 'ENSG00000214546', 'score': 8.12}, {'connected_gene': 'MED24', 'score': 4.76}, {'connected_gene': 'PIR42633', 'score': 0.29}]
chr17 GH17I038745 38745454 38754092 2.36 [{'connected_gene': 'PCGF2', 'score': 588.17}, {'connected_gene': 'PSMB3', 'score': 558.06}, {'connected_gene': 'LOC100287808', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 125.47}, {'connected_gene': 'CDK12', 'score': 112.07}, {'connected_gene': 'LOC105371762', 'score': 72.03}, {'connected_gene': 'SNORA21', 'score': 65.09}, {'connected_gene': 'RPL23', 'score': 19.41}, {'connected_gene': 'RPL19', 'score': 19.0}, {'connected_gene': 'CISD3', 'score': 10.83}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'FBXL20', 'score': 9.96}, {'connected_gene': 'PIR53258', 'score': 0.77}, {'connected_gene': 'PIR53172', 'score': 0.77}, {'connected_gene': 'TRN-GTT2-5', 'score': 0.77}]
chr17 GH17I038850 38850879 38856117 2.36 [{'connected_gene': 'SNORA21', 'score': 590.58}, {'connected_gene': 'RPL23', 'score': 561.69}, {'connected_gene': 'RPS20P35', 'score': 556.59}, {'connected_gene': 'PIR54049', 'score': 550.77}, {'connected_gene': 'GC17M038862', 'score': 550.77}, {'connected_gene': 'GC17M038850', 'score': 550.77}, {'connected_gene': 'GC17M038858', 'score': 550.77}, {'connected_gene': 'GC17M038875', 'score': 550.77}, {'connected_gene': 'PIR38457', 'score': 550.77}, {'connected_gene': 'GC17M038872', 'score': 550.77}, {'connected_gene': 'SNORA21B', 'score': 550.77}, {'connected_gene': 'GC17P038858', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 44.29}, {'connected_gene': 'MED1', 'score': 26.17}, {'connected_gene': 'LOC105371762', 'score': 24.52}, {'connected_gene': 'RPL19', 'score': 18.65}, {'connected_gene': 'STARD3', 'score': 12.57}, {'connected_gene': 'PCGF2', 'score': 11.6}, {'connected_gene': 'LASP1', 'score': 5.58}, {'connected_gene': 'PSMB3', 'score': 5.06}, {'connected_gene': 'C17orf98', 'score': 5.01}, {'connected_gene': 'PIP4K2B', 'score': 4.92}, {'connected_gene': 'CWC25', 'score': 4.74}, {'connected_gene': 'FBXO47', 'score': 2.78}]
chr17 GH17I038895 38895590 38903243 1.39 [{'connected_gene': 'SNORA21', 'score': 23.33}, {'connected_gene': 'MED1', 'score': 20.72}, {'connected_gene': 'LASP1', 'score': 17.08}, {'connected_gene': 'RPS20P35', 'score': 12.51}, {'connected_gene': 'RPL23', 'score': 12.49}, {'connected_gene': 'SNORA21B', 'score': 12.49}, {'connected_gene': 'LOC105371762', 'score': 12.26}, {'connected_gene': 'CWC25', 'score': 11.26}, {'connected_gene': 'LINC00672', 'score': 6.28}, {'connected_gene': 'ENSG00000266588', 'score': 5.8}, {'connected_gene': 'GC17M038893', 'score': 0.77}, {'connected_gene': 'ENSG00000263466', 'score': 0.44}]
chr17 GH17I038876 38876583 38887714 1.38 [{'connected_gene': 'SNORA21', 'score': 22.77}, {'connected_gene': 'MED1', 'score': 20.39}, {'connected_gene': 'RPS20P35', 'score': 13.04}, {'connected_gene': 'RPL23', 'score': 13.04}, {'connected_gene': 'SNORA21B', 'score': 13.03}, {'connected_gene': 'C17orf98', 'score': 11.85}, {'connected_gene': 'CWC25', 'score': 11.29}, {'connected_gene': 'PSMB3', 'score': 10.93}, {'connected_gene': 'LASP1', 'score': 9.99}, {'connected_gene': 'PCGF2', 'score': 7.25}, {'connected_gene': 'PPP1R1B', 'score': 5.75}, {'connected_gene': 'PIP4K2B', 'score': 5.44}, {'connected_gene': 'TBC1D3', 'score': 4.78}, {'connected_gene': 'TCAP', 'score': 4.11}, {'connected_gene': 'GC17M038893', 'score': 0.39}]
chr17 GH17I039191 39191168 39202827 2.29 [{'connected_gene': 'RPL19', 'score': 569.8}, {'connected_gene': 'CACNB1', 'score': 558.39}, {'connected_gene': 'CDK12', 'score': 30.44}, {'connected_gene': 'SNORA21', 'score': 23.48}, {'connected_gene': 'SNORD124', 'score': 19.25}, {'connected_gene': 'MED1', 'score': 15.04}, {'connected_gene': 'STARD3', 'score': 12.59}, {'connected_gene': 'RPL23', 'score': 12.13}, {'connected_gene': 'LOC105371762', 'score': 11.75}, {'connected_gene': 'MSL1', 'score': 11.11}, {'connected_gene': 'ENSG00000263466', 'score': 10.07}, {'connected_gene': 'STAC2', 'score': 9.73}, {'connected_gene': 'LOC105371768', 'score': 0.34}]
chr17 GH17I039151 39151400 39155272 2.33 [{'connected_gene': 'PLXDC1', 'score': 550.77}, {'connected_gene': 'TRC-GCA2-3', 'score': 550.77}, {'connected_gene': 'TRC-GCA2-4', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 41.21}, {'connected_gene': 'CDK12', 'score': 32.29}, {'connected_gene': 'MED24', 'score': 26.82}, {'connected_gene': 'LOC105371762', 'score': 23.99}, {'connected_gene': 'SNORD124', 'score': 21.57}, {'connected_gene': 'RPL23', 'score': 20.93}, {'connected_gene': 'RPL19', 'score': 19.1}, {'connected_gene': 'THRA', 'score': 15.83}, {'connected_gene': 'SNORA21', 'score': 14.18}, {'connected_gene': 'MSL1', 'score': 11.86}, {'connected_gene': 'PIR45010', 'score': 0.21}]
chr17 GH17I038823 38823443 38826432 2.13 [{'connected_gene': 'CWC25', 'score': 561.52}, {'connected_gene': 'MIR4727', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 107.87}, {'connected_gene': 'CDK12', 'score': 78.98}, {'connected_gene': 'SNORA21', 'score': 69.71}, {'connected_gene': 'LOC105371762', 'score': 46.97}, {'connected_gene': 'RPL23', 'score': 25.78}, {'connected_gene': 'STARD3', 'score': 20.72}, {'connected_gene': 'RPL19', 'score': 18.64}, {'connected_gene': 'PIP4K2B', 'score': 14.26}, {'connected_gene': 'PSMB3', 'score': 8.22}, {'connected_gene': 'LASP1', 'score': 5.0}, {'connected_gene': 'C17orf98', 'score': 0.37}, {'connected_gene': 'PIR39214', 'score': 0.34}]
chr17 GH17I038614 38614068 38614217 0.97 [{'connected_gene': 'CDK12', 'score': 17.65}, {'connected_gene': 'MED1', 'score': 14.99}, {'connected_gene': 'RPL23', 'score': 12.14}, {'connected_gene': 'SNORA21', 'score': 12.12}, {'connected_gene': 'LOC105371762', 'score': 11.85}, {'connected_gene': 'RPL19', 'score': 10.92}, {'connected_gene': 'ENSG00000263466', 'score': 10.07}, {'connected_gene': 'SRCIN1', 'score': 0.44}, {'connected_gene': 'GC17M038621', 'score': 0.44}]
chr17 GH17I039460 39460565 39464622 2.13 [{'connected_gene': 'CDK12', 'score': 567.51}, {'connected_gene': 'MED1', 'score': 31.59}, {'connected_gene': 'RPL23', 'score': 21.1}, {'connected_gene': 'LOC105371762', 'score': 14.47}, {'connected_gene': 'SNORA21', 'score': 14.15}, {'connected_gene': 'MED24', 'score': 12.75}, {'connected_gene': 'MSL1', 'score': 11.86}, {'connected_gene': 'SNORD124', 'score': 11.18}, {'connected_gene': 'RPL19', 'score': 10.52}, {'connected_gene': 'PGAP3', 'score': 8.36}, {'connected_gene': 'ENSG00000214546', 'score': 7.86}, {'connected_gene': 'STARD3', 'score': 4.45}, {'connected_gene': 'RNU6-233P', 'score': 0.18}]
chr17 GH17I039621 39621548 39622617 1.38 [{'connected_gene': 'CDK12', 'score': 16.83}, {'connected_gene': 'STARD3', 'score': 15.54}, {'connected_gene': 'LOC105371762', 'score': 14.47}, {'connected_gene': 'SNORA21', 'score': 14.15}, {'connected_gene': 'MED1', 'score': 13.2}, {'connected_gene': 'MSL1', 'score': 11.88}, {'connected_gene': 'RPL23', 'score': 10.95}, {'connected_gene': 'RPL19', 'score': 10.5}, {'connected_gene': 'PPP1R1B', 'score': 0.77}, {'connected_gene': 'ENSG00000214546', 'score': 0.77}]
chr17 GH17I038699 38699752 38707563 2.34 [{'connected_gene': 'MLLT6', 'score': 556.63}, {'connected_gene': 'ENSG00000277969', 'score': 550.77}, {'connected_gene': 'MIR4734', 'score': 550.77}, {'connected_gene': 'GC17P038706', 'score': 550.77}, {'connected_gene': 'LOC105371764', 'score': 550.77}, {'connected_gene': 'CDK12', 'score': 33.13}, {'connected_gene': 'LOC105371762', 'score': 26.68}, {'connected_gene': 'PCGF2', 'score': 24.87}, {'connected_gene': 'MED1', 'score': 23.27}, {'connected_gene': 'SNORA21', 'score': 22.22}, {'connected_gene': 'PGAP3', 'score': 13.7}, {'connected_gene': 'CISD3', 'score': 12.47}, {'connected_gene': 'RPL23', 'score': 11.03}, {'connected_gene': 'RPL19', 'score': 10.49}, {'connected_gene': 'ENSG00000275532', 'score': 0.77}, {'connected_gene': 'LOC105371763', 'score': 0.77}]
chr17 GH17I038867 38867108 38876298 2.63 [{'connected_gene': 'LASP1', 'score': 560.32}, {'connected_gene': 'MED1', 'score': 84.45}, {'connected_gene': 'CDK12', 'score': 65.03}, {'connected_gene': 'SNORA21', 'score': 31.37}, {'connected_gene': 'LOC105371762', 'score': 29.1}, {'connected_gene': 'RPL23', 'score': 18.84}, {'connected_gene': 'CWC25', 'score': 16.56}, {'connected_gene': 'PSMB3', 'score': 15.96}, {'connected_gene': 'SNORA21B', 'score': 12.81}, {'connected_gene': 'C17orf98', 'score': 12.62}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'RPL19', 'score': 10.24}, {'connected_gene': 'RPS20P35', 'score': 4.97}, {'connected_gene': 'TCAP', 'score': 4.14}, {'connected_gene': 'FBXO47', 'score': 1.65}, {'connected_gene': 'TRC-GCA2-2', 'score': 0.77}, {'connected_gene': 'PIR59292', 'score': 0.77}, {'connected_gene': 'TRC-GCA4-1', 'score': 0.77}, {'connected_gene': 'GC17M038893', 'score': 0.34}]
chr17 GH17I038889 38889809 38894785 1.22 [{'connected_gene': 'LASP1', 'score': 12.32}, {'connected_gene': 'RPS20P35', 'score': 12.26}, {'connected_gene': 'RPL23', 'score': 12.26}, {'connected_gene': 'SNORA21', 'score': 12.26}, {'connected_gene': 'SNORA21B', 'score': 12.24}, {'connected_gene': 'CWC25', 'score': 11.27}, {'connected_gene': 'PIP4K2B', 'score': 5.31}, {'connected_gene': 'PSMB3', 'score': 4.85}, {'connected_gene': 'GC17M038893', 'score': 0.77}]
chr17 GH17I039165 39165950 39168235 1.02 [{'connected_gene': 'ARL5C', 'score': 560.11}, {'connected_gene': 'MED1', 'score': 15.47}, {'connected_gene': 'MED24', 'score': 10.57}, {'connected_gene': 'SNORA21', 'score': 10.36}, {'connected_gene': 'CDK12', 'score': 10.23}, {'connected_gene': 'RPL23', 'score': 10.18}, {'connected_gene': 'MRPL45', 'score': 5.8}, {'connected_gene': 'LOC105371763', 'score': 4.52}, {'connected_gene': 'ENSG00000280177', 'score': 0.77}]
chr17 GH17I038724 38724044 38734880 2.28 [{'connected_gene': 'CISD3', 'score': 558.88}, {'connected_gene': 'ENSG00000279119', 'score': 550.77}, {'connected_gene': 'PCGF2', 'score': 34.52}, {'connected_gene': 'MED1', 'score': 27.58}, {'connected_gene': 'CDK12', 'score': 26.35}, {'connected_gene': 'RPL23', 'score': 21.93}, {'connected_gene': 'LOC105371762', 'score': 20.64}, {'connected_gene': 'MLLT6', 'score': 16.67}, {'connected_gene': 'PGAP3', 'score': 13.7}, {'connected_gene': 'STARD3', 'score': 12.22}, {'connected_gene': 'PSMB3', 'score': 12.03}, {'connected_gene': 'CWC25', 'score': 10.33}, {'connected_gene': 'RPL19', 'score': 10.13}, {'connected_gene': 'FBXL20', 'score': 9.71}, {'connected_gene': 'STAC2', 'score': 5.38}, {'connected_gene': 'RNA5SP440', 'score': 0.77}, {'connected_gene': 'GC17M038732', 'score': 0.77}, {'connected_gene': 'GC17P038724', 'score': 0.44}, {'connected_gene': 'GC17M038716', 'score': 0.44}]
chr17 GH17I038923 38923801 38924400 1.04 [{'connected_gene': 'LINC00672', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 86.82}, {'connected_gene': 'CDK12', 'score': 70.91}, {'connected_gene': 'SNORA21', 'score': 69.67}, {'connected_gene': 'LOC105371762', 'score': 55.88}, {'connected_gene': 'RPL23', 'score': 25.66}, {'connected_gene': 'FBXO47', 'score': 11.76}, {'connected_gene': 'C17orf98', 'score': 11.45}, {'connected_gene': 'PIP4K2B', 'score': 10.69}, {'connected_gene': 'CWC25', 'score': 10.6}, {'connected_gene': 'RPL19', 'score': 10.5}, {'connected_gene': 'STARD3', 'score': 9.89}, {'connected_gene': 'ENSG00000265784', 'score': 0.77}]
chr17 GH17I038920 38920653 38923797 1.23 [{'connected_gene': 'ENSG00000265784', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 86.82}, {'connected_gene': 'CDK12', 'score': 70.91}, {'connected_gene': 'SNORA21', 'score': 69.68}, {'connected_gene': 'LOC105371762', 'score': 55.88}, {'connected_gene': 'RPL23', 'score': 25.67}, {'connected_gene': 'FBXO47', 'score': 11.75}, {'connected_gene': 'C17orf98', 'score': 11.45}, {'connected_gene': 'CWC25', 'score': 10.86}, {'connected_gene': 'PIP4K2B', 'score': 10.69}, {'connected_gene': 'RPL19', 'score': 10.5}, {'connected_gene': 'STARD3', 'score': 9.89}, {'connected_gene': 'LINC00672', 'score': 5.06}, {'connected_gene': 'LASP1', 'score': 0.23}]
chr17 GH17I039013 39013954 39017599 1.17 [{'connected_gene': 'GC17M039013', 'score': 550.77}, {'connected_gene': 'MED1', 'score': 29.54}, {'connected_gene': 'CDK12', 'score': 28.94}, {'connected_gene': 'SNORA21', 'score': 22.7}, {'connected_gene': 'LOC105371762', 'score': 21.02}, {'connected_gene': 'FBXO47', 'score': 11.37}, {'connected_gene': 'RPL23', 'score': 11.2}, {'connected_gene': 'ARL5C', 'score': 10.51}, {'connected_gene': 'STARD3', 'score': 10.5}, {'connected_gene': 'RPL19', 'score': 10.25}, {'connected_gene': 'CACNB1', 'score': 10.25}, {'connected_gene': 'CWC25', 'score': 9.86}, {'connected_gene': 'ENSG00000266588', 'score': 5.4}, {'connected_gene': 'ENSG00000277426', 'score': 0.44}, {'connected_gene': 'LOC105371767', 'score': 0.39}]

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