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
ENST00000367846 [[167885966, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905278]] [[167887560, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905079]]
ENST00000271373 [[167887305, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905136], [167906176, 167906278]] [[167887560, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905079]]
ENST00000458574 [[167889248, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905136], [167905770, 167906043]] [[167889248, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905079]]
NR_026550 [[167885912, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905439]] None
NM_001143674 [[167885912, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905136], [167906176, 167906307]] [[167887560, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905079]]
NM_015415 [[167885912, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905136], [167906242, 167906307]] [[167887560, 167887597], [167889216, 167889328], [167889784, 167889869], [167893734, 167893775], [167904970, 167905079]]
Promoter
Chrom Start End Description
chr1 167905225 167905296 CAGE_peak_1_at_BRP44_5end
chr1 167905325 167905336 CAGE_peak_2_at_BRP44_5end
chr1 167905338 167905343 CAGE_peak_6_at_BRP44_5end
chr1 167905363 167905364 CAGE_peak_12_at_BRP44_5end
chr1 167905372 167905384 CAGE_peak_5_at_BRP44_5end
chr1 167905389 167905396 CAGE_peak_10_at_BRP44_5end
chr1 167905427 167905436 CAGE_peak_11_at_BRP44_5end
chr1 167906020 167906058 CAGE_peak_7_at_BRP44_5end
chr1 167906241 167906264 CAGE_peak_9_at_BRP44_5end
chr1 167906270 167906273 CAGE_peak_17_at_BRP44_5end
chr1 167906277 167906324 CAGE_peak_4_at_BRP44_5end
chr1 167906329 167906345 CAGE_peak_13_at_BRP44_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I167924 167924236 167925229 0.72 [{'connected_gene': 'DCAF6', 'score': 8.03}, {'connected_gene': 'ADCY10', 'score': 0.44}, {'connected_gene': 'MPC2', 'score': 0.39}]
chr1 GH01I167904 167904223 167905665 1.46 [{'connected_gene': 'ADCY10', 'score': 550.39}, {'connected_gene': 'MPC2', 'score': 20.23}, {'connected_gene': 'DCAF6', 'score': 11.25}, {'connected_gene': 'ENSG00000232194', 'score': 11.04}, {'connected_gene': 'ENSG00000250762', 'score': 11.04}, {'connected_gene': 'GC01P167854', 'score': 0.23}]
chr1 GH01I167923 167922183 167922332 0.69 [{'connected_gene': 'ADCY10', 'score': 0.44}, {'connected_gene': 'MPC2', 'score': 0.39}, {'connected_gene': 'DCAF6', 'score': 0.39}]
chr1 GH01I167915 167915530 167918258 1.05 [{'connected_gene': 'ADCY10', 'score': 550.77}, {'connected_gene': 'MPC2', 'score': 9.93}, {'connected_gene': 'DCAF6', 'score': 0.37}]
chr1 GH01I167922 167922565 167923684 1.02 [{'connected_gene': 'ADCY10', 'score': 0.44}, {'connected_gene': 'MPC2', 'score': 0.39}, {'connected_gene': 'DCAF6', 'score': 0.39}]
chr1 GH01I167946 167946828 167947844 0.49 [{'connected_gene': 'ADCY10', 'score': 11.5}, {'connected_gene': 'MPC2', 'score': 8.47}, {'connected_gene': 'DCAF6', 'score': 0.39}, {'connected_gene': 'GC01P167995', 'score': 0.25}]
chr1 GH01I167875 167875160 167875832 0.46 [{'connected_gene': 'ADCY10', 'score': 11.29}, {'connected_gene': 'MPC2', 'score': 7.26}, {'connected_gene': 'TIPRL', 'score': 4.72}, {'connected_gene': 'GC01P167854', 'score': 0.34}]
chr1 GH01I167985 167985002 167985169 1.09 [{'connected_gene': 'POU2F1', 'score': 81.09}, {'connected_gene': 'MPZL1', 'score': 24.71}, {'connected_gene': 'ENSG00000272205', 'score': 10.9}, {'connected_gene': 'ADCY10', 'score': 10.47}, {'connected_gene': 'MPC2', 'score': 8.06}, {'connected_gene': 'RCSD1', 'score': 1.28}, {'connected_gene': 'GC01P167995', 'score': 0.39}, {'connected_gene': 'DCAF6', 'score': 0.25}]
chr1 GH01I168177 168177846 168180792 2.37 [{'connected_gene': 'TIPRL', 'score': 561.68}, {'connected_gene': 'MPZL1', 'score': 31.53}, {'connected_gene': 'POU2F1', 'score': 10.39}, {'connected_gene': 'GPR161', 'score': 7.47}, {'connected_gene': 'MPC2', 'score': 5.24}, {'connected_gene': 'RPL34P1', 'score': 0.29}, {'connected_gene': 'GC01M168113', 'score': 0.08}]
chr1 GH01I168202 168202530 168204098 0.94 [{'connected_gene': 'TIPRL', 'score': 23.65}, {'connected_gene': 'SFT2D2', 'score': 12.49}, {'connected_gene': 'MPC2', 'score': 5.35}, {'connected_gene': 'RPL34P1', 'score': 0.44}, {'connected_gene': 'GC01M168113', 'score': 0.08}]
chr1 GH01I167933 167933667 167939419 2.34 [{'connected_gene': 'MPC2', 'score': 559.97}, {'connected_gene': 'DCAF6', 'score': 550.77}, {'connected_gene': 'MPZL1', 'score': 41.99}, {'connected_gene': 'POU2F1', 'score': 10.98}, {'connected_gene': 'DPT', 'score': 10.11}]
chr1 GH01I167911 167911401 167911600 0.2 [{'connected_gene': 'MPC2', 'score': 19.18}, {'connected_gene': 'DCAF6', 'score': 11.26}, {'connected_gene': 'ADCY10', 'score': 0.77}, {'connected_gene': 'GC01P167854', 'score': 0.22}]
chr1 GH01I167925 167925746 167930934 1.42 [{'connected_gene': 'MPC2', 'score': 9.68}, {'connected_gene': 'DCAF6', 'score': 0.44}, {'connected_gene': 'ADCY10', 'score': 0.39}]
chr1 GH01I167912 167912323 167912472 0.46 [{'connected_gene': 'MPC2', 'score': 11.26}, {'connected_gene': 'DCAF6', 'score': 11.26}, {'connected_gene': 'ADCY10', 'score': 0.77}, {'connected_gene': 'GC01P167854', 'score': 0.22}]
chr1 GH01I167829 167829738 167831161 0.8 [{'connected_gene': 'MPC2', 'score': 5.9}, {'connected_gene': 'ENSG00000232194', 'score': 0.39}, {'connected_gene': 'GC01P167854', 'score': 0.34}, {'connected_gene': 'ADCY10', 'score': 0.17}]
chr1 GH01I168121 168121072 168122352 1.01 [{'connected_gene': 'GPR161', 'score': 550.37}, {'connected_gene': 'TBX19', 'score': 9.3}, {'connected_gene': 'MPC2', 'score': 7.87}, {'connected_gene': 'TIPRL', 'score': 4.93}, {'connected_gene': 'GC01M168079', 'score': 0.26}, {'connected_gene': 'GC01M168113', 'score': 0.06}]
chr1 GH01I168135 168135589 168137870 1.87 [{'connected_gene': 'GPR161', 'score': 550.77}, {'connected_gene': 'TIPRL', 'score': 19.96}, {'connected_gene': 'SFT2D2', 'score': 10.47}, {'connected_gene': 'MPC2', 'score': 6.69}, {'connected_gene': 'GC01M168079', 'score': 0.22}, {'connected_gene': 'GC01M168113', 'score': 0.07}]
chr1 GH01I167865 167865729 167867361 0.92 [{'connected_gene': 'DUTP6', 'score': 11.95}, {'connected_gene': 'ENSG00000232194', 'score': 11.2}, {'connected_gene': 'ENSG00000250762', 'score': 11.2}, {'connected_gene': 'ADCY10', 'score': 10.88}, {'connected_gene': 'MPZL1', 'score': 10.78}, {'connected_gene': 'MPC2', 'score': 4.74}, {'connected_gene': 'CREG1', 'score': 4.69}, {'connected_gene': 'GC01P167854', 'score': 0.39}]
chr1 GH01I168056 168056201 168056601 0.5 [{'connected_gene': 'GCSHP5', 'score': 550.77}, {'connected_gene': 'MPC2', 'score': 5.55}, {'connected_gene': 'MIR1255B2', 'score': 0.22}, {'connected_gene': 'DCAF6', 'score': 0.13}]
chr1 GH01I168079 168079329 168082917 1.27 [{'connected_gene': 'GC01M168079', 'score': 550.77}, {'connected_gene': 'MPC2', 'score': 7.25}, {'connected_gene': 'SFT2D2', 'score': 1.52}, {'connected_gene': 'GPR161', 'score': 0.22}]