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
ENST00000543115 [[7055630, 7055902], [7060626, 7060683], [7060771, 7060894], [7061145, 7061343]] [[7055888, 7055902], [7060626, 7060683], [7060771, 7060894], [7061145, 7061343]]
ENST00000542848 [[7055736, 7055902], [7060771, 7060894], [7061275, 7061340], [7063967, 7064157], [7064313, 7064425]] [[7055888, 7055902], [7060771, 7060894], [7061275, 7061315]]
ENST00000543120 [[7055739, 7055902], [7061074, 7061340], [7063967, 7064102]] None
ENST00000399448 [[7055739, 7055902], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070108], [7070288, 7070479]] [[7055888, 7055902], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070083]]
ENST00000534900 [[7055772, 7055902], [7061145, 7061340], [7063967, 7064157], [7064313, 7064336]] None
ENST00000447931 [[7055772, 7055902], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070108], [7070288, 7070447]] [[7055888, 7055902], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070083]]
ENST00000538318 [[7055872, 7055902], [7060667, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430]] None
ENST00000538715 [[7060424, 7060454], [7060621, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064136]] [[7060675, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064136]]
ENST00000318974 [[7060431, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070108], [7070288, 7070476]] [[7060675, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070083]]
ENST00000456013 [[7060433, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069825, 7070108], [7070288, 7070479]] [[7060675, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069825, 7070027]]
ENST00000543744 [[7060447, 7060683], [7060771, 7062578]] None
ENST00000540740 [[7060518, 7060678], [7060771, 7060894], [7061074, 7061340], [7063967, 7064010]] None
ENST00000416215 [[7060518, 7060683], [7060771, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070108], [7070288, 7070479]] None
ENST00000545153 [[7060534, 7060683], [7060771, 7060894], [7061074, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648]] [[7060675, 7060683], [7060771, 7060894], [7061074, 7061162]]
ENST00000536521 [[7060535, 7060683], [7060771, 7060894], [7061145, 7061387]] None
ENST00000535462 [[7060535, 7060683], [7060771, 7060894], [7061179, 7061340], [7063967, 7064078]] [[7060675, 7060683], [7060771, 7060894], [7061179, 7061231]]
ENST00000541698 [[7060535, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064016], [7064116, 7064157], [7064313, 7064349]] [[7060675, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064016], [7064116, 7064157], [7064313, 7064349]]
ENST00000542462 [[7060537, 7060683], [7061145, 7061340], [7063967, 7064157], [7064313, 7064352]] [[7060675, 7060683], [7061145, 7061340], [7063967, 7064157], [7064313, 7064352]]
ENST00000542277 [[7060597, 7060683], [7060771, 7060894], [7061145, 7061340], [7062504, 7062764]] None
ENST00000536013 [[7060599, 7060683], [7060771, 7060894], [7061275, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064557]] [[7060675, 7060683], [7060771, 7060894], [7061275, 7061315]]
ENST00000539365 [[7060603, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648]] None
ENST00000539029 [[7068484, 7068546], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070108], [7070288, 7070479]] None
ENST00000542761 [[7068575, 7069157], [7069250, 7069402], [7069506, 7069567]] None
ENST00000537533 [[7068738, 7068768], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070108], [7070288, 7070479]] None
NM_080548 [[7055739, 7055902], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070108], [7070288, 7070479]] [[7055888, 7055902], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070083]]
NM_002831 [[7060433, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070108], [7070288, 7070479]] [[7060675, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069968, 7070083]]
NM_080549 [[7060433, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069825, 7070108], [7070288, 7070479]] [[7060675, 7060683], [7060771, 7060894], [7061145, 7061340], [7063967, 7064157], [7064313, 7064430], [7064534, 7064648], [7064822, 7064919], [7065304, 7065384], [7065581, 7065731], [7066816, 7066948], [7067081, 7067236], [7069089, 7069157], [7069250, 7069402], [7069506, 7069598], [7069825, 7070027]]
Promoter
Chrom Start End Description
chr12 7055720 7055748 CAGE_peak_4_at_PTPN6_5end
chr12 7055767 7055804 CAGE_peak_3_at_PTPN6_5end
chr12 7060414 7060423 CAGE_peak_9_at_PTPN6_5end
chr12 7060440 7060453 CAGE_peak_5_at_PTPN6_5end
chr12 7060473 7060507 CAGE_peak_2_at_PTPN6_5end
chr12 7060508 7060609 CAGE_peak_1_at_PTPN6_5end
chr12 7060615 7060624 CAGE_peak_8_at_PTPN6_5end
chr12 7068461 7068466 CAGE_peak_19_at_PTPN6_5end
chr12 7068475 7068509 CAGE_peak_6_at_PTPN6_5end
chr12 7068692 7068716 CAGE_peak_7_at_PTPN6_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I006788 6788596 6793556 2.34 [{'connected_gene': 'CD4', 'score': 571.4}, {'connected_gene': 'LPAR5', 'score': 12.8}, {'connected_gene': 'GPR162', 'score': 12.29}, {'connected_gene': 'P3H3', 'score': 12.27}, {'connected_gene': 'PTPN6', 'score': 11.88}, {'connected_gene': 'ING4', 'score': 11.75}, {'connected_gene': 'PTMS', 'score': 11.52}, {'connected_gene': 'MLF2', 'score': 11.29}, {'connected_gene': 'GNB3', 'score': 11.18}, {'connected_gene': 'PIANP', 'score': 11.11}, {'connected_gene': 'USP5', 'score': 10.97}, {'connected_gene': 'CDCA3', 'score': 10.97}, {'connected_gene': 'ATN1', 'score': 10.68}, {'connected_gene': 'ENSG00000219410', 'score': 10.68}, {'connected_gene': 'ACRBP', 'score': 10.66}, {'connected_gene': 'TPI1', 'score': 10.32}, {'connected_gene': 'LRRC23', 'score': 10.31}, {'connected_gene': 'RPL13P5', 'score': 10.31}, {'connected_gene': 'SPSB2', 'score': 10.29}, {'connected_gene': 'GAPDH', 'score': 5.06}, {'connected_gene': 'CD27', 'score': 3.94}, {'connected_gene': 'TAPBPL', 'score': 3.76}, {'connected_gene': 'IFFO1', 'score': 2.62}, {'connected_gene': 'ZNF384', 'score': 2.38}, {'connected_gene': 'CHD4', 'score': 1.34}]
chr12 GH12I006890 6890202 6892075 1.62 [{'connected_gene': 'SPSB2', 'score': 594.73}, {'connected_gene': 'LOC105369632', 'score': 550.77}, {'connected_gene': 'ZNF384', 'score': 40.14}, {'connected_gene': 'ENSG00000219410', 'score': 29.02}, {'connected_gene': 'ENSG00000247853', 'score': 27.3}, {'connected_gene': 'NOP2', 'score': 27.01}, {'connected_gene': 'CHD4', 'score': 22.84}, {'connected_gene': 'SCARNA12', 'score': 22.45}, {'connected_gene': 'ENSG00000256967', 'score': 13.21}, {'connected_gene': 'LAG3', 'score': 12.2}, {'connected_gene': 'C1RL-AS1', 'score': 12.09}, {'connected_gene': 'NCAPD2', 'score': 11.99}, {'connected_gene': 'ACRBP', 'score': 2.48}, {'connected_gene': 'CD4', 'score': 2.45}, {'connected_gene': 'PEX5', 'score': 2.42}, {'connected_gene': 'VAMP1', 'score': 2.03}, {'connected_gene': 'PTPN6', 'score': 1.4}, {'connected_gene': 'ENSG00000275703', 'score': 0.44}, {'connected_gene': 'LRRC23', 'score': 0.37}]
chr12 GH12I006762 6762790 6770018 2.61 [{'connected_gene': 'MLF2', 'score': 557.43}, {'connected_gene': 'PTMS', 'score': 552.92}, {'connected_gene': 'ENSG00000219410', 'score': 31.26}, {'connected_gene': 'ZNF384', 'score': 30.44}, {'connected_gene': 'CHD4', 'score': 28.54}, {'connected_gene': 'NCAPD2', 'score': 25.5}, {'connected_gene': 'EMG1', 'score': 21.1}, {'connected_gene': 'ENSG00000247853', 'score': 16.43}, {'connected_gene': 'PTPN6', 'score': 15.97}, {'connected_gene': 'SPSB2', 'score': 14.0}, {'connected_gene': 'GDF3', 'score': 11.46}, {'connected_gene': 'TNFRSF1A', 'score': 11.03}, {'connected_gene': 'C12orf57', 'score': 10.83}, {'connected_gene': 'C1RL-AS1', 'score': 10.71}, {'connected_gene': 'ENSG00000256967', 'score': 10.49}, {'connected_gene': 'PHB2', 'score': 10.44}, {'connected_gene': 'SCARNA12', 'score': 10.2}, {'connected_gene': 'P3H3', 'score': 10.16}, {'connected_gene': 'NOP2', 'score': 10.13}, {'connected_gene': 'LTBR', 'score': 10.02}, {'connected_gene': 'C1S', 'score': 9.84}, {'connected_gene': 'ENSG00000269892', 'score': 6.4}, {'connected_gene': 'COPS7A', 'score': 5.73}, {'connected_gene': 'ATN1', 'score': 2.51}, {'connected_gene': 'ENO2', 'score': 2.4}, {'connected_gene': 'PIANP', 'score': 2.05}, {'connected_gene': 'GPR162', 'score': 1.91}, {'connected_gene': 'CLSTN3', 'score': 1.27}]
chr12 GH12I006940 6940697 6966619 2.68 [{'connected_gene': 'PTPN6', 'score': 557.98}, {'connected_gene': 'C12orf57', 'score': 550.39}, {'connected_gene': 'ZNF384', 'score': 124.61}, {'connected_gene': 'ENSG00000219410', 'score': 92.91}, {'connected_gene': 'CHD4', 'score': 77.35}, {'connected_gene': 'ENSG00000247853', 'score': 70.62}, {'connected_gene': 'SPSB2', 'score': 60.08}, {'connected_gene': 'SCARNA12', 'score': 44.83}, {'connected_gene': 'ENSG00000256967', 'score': 42.67}, {'connected_gene': 'NCAPD2', 'score': 35.97}, {'connected_gene': 'C1RL-AS1', 'score': 34.23}, {'connected_gene': 'NOP2', 'score': 34.1}, {'connected_gene': 'EMG1', 'score': 25.74}, {'connected_gene': 'ATN1', 'score': 23.48}, {'connected_gene': 'PHB2', 'score': 23.08}, {'connected_gene': 'LAG3', 'score': 22.48}, {'connected_gene': 'ING4', 'score': 20.97}, {'connected_gene': 'LRRC23', 'score': 18.43}, {'connected_gene': 'LPCAT3', 'score': 15.14}, {'connected_gene': 'P3H3', 'score': 11.05}, {'connected_gene': 'TNFRSF1A', 'score': 11.01}, {'connected_gene': 'GNB3', 'score': 10.5}, {'connected_gene': 'LTBR', 'score': 10.0}, {'connected_gene': 'GDF3', 'score': 10.0}, {'connected_gene': 'RPL13P5', 'score': 9.83}, {'connected_gene': 'PEX5', 'score': 4.46}, {'connected_gene': 'MLF2', 'score': 4.44}, {'connected_gene': 'CD4', 'score': 3.77}, {'connected_gene': 'VAMP1', 'score': 1.82}, {'connected_gene': 'ACSM4', 'score': 1.39}, {'connected_gene': 'PIR39346', 'score': 0.44}, {'connected_gene': 'LOC105369634', 'score': 0.44}, {'connected_gene': 'RNU7-1', 'score': 0.44}, {'connected_gene': 'ENSG00000272173', 'score': 0.44}, {'connected_gene': 'MIR200CHG', 'score': 0.44}, {'connected_gene': 'GC12P007499', 'score': 0.44}, {'connected_gene': 'ENSG00000271969', 'score': 0.39}, {'connected_gene': 'MIR200C', 'score': 0.39}, {'connected_gene': 'MIR141', 'score': 0.39}, {'connected_gene': 'GC12P007501', 'score': 0.39}, {'connected_gene': 'GC12P007500', 'score': 0.39}, {'connected_gene': 'GC12P007498', 'score': 0.39}]
chr12 GH12I006449 6449872 6454242 2.12 [{'connected_gene': 'TAPBPL', 'score': 595.38}, {'connected_gene': 'CD27-AS1', 'score': 567.74}, {'connected_gene': 'MRPL51', 'score': 41.33}, {'connected_gene': 'PTPN6', 'score': 15.92}, {'connected_gene': 'VAMP1', 'score': 9.48}, {'connected_gene': 'CD27', 'score': 0.44}, {'connected_gene': 'ENSG00000276718', 'score': 0.39}]
chr12 GH12I006602 6602024 6609431 2.56 [{'connected_gene': 'CHD4', 'score': 588.83}, {'connected_gene': 'ZNF384', 'score': 65.49}, {'connected_gene': 'ENSG00000219410', 'score': 56.76}, {'connected_gene': 'ENSG00000247853', 'score': 53.11}, {'connected_gene': 'NOP2', 'score': 44.82}, {'connected_gene': 'NCAPD2', 'score': 33.14}, {'connected_gene': 'ING4', 'score': 26.37}, {'connected_gene': 'SPSB2', 'score': 22.88}, {'connected_gene': 'EMG1', 'score': 20.63}, {'connected_gene': 'SCARNA12', 'score': 19.69}, {'connected_gene': 'P3H3', 'score': 18.46}, {'connected_gene': 'ACRBP', 'score': 16.75}, {'connected_gene': 'LPAR5', 'score': 12.85}, {'connected_gene': 'SCARNA11', 'score': 12.24}, {'connected_gene': 'IFFO1', 'score': 12.17}, {'connected_gene': 'ATN1', 'score': 11.68}, {'connected_gene': 'C12orf57', 'score': 10.79}, {'connected_gene': 'LAG3', 'score': 10.77}, {'connected_gene': 'ENSG00000256967', 'score': 10.55}, {'connected_gene': 'PHB2', 'score': 10.41}, {'connected_gene': 'C1S', 'score': 9.81}, {'connected_gene': 'CD27-AS1', 'score': 4.6}, {'connected_gene': 'LRRC23', 'score': 2.58}, {'connected_gene': 'PTPN6', 'score': 2.0}, {'connected_gene': 'SCNN1A', 'score': 1.62}, {'connected_gene': 'PIR45256', 'score': 0.77}, {'connected_gene': 'GC12M006602', 'score': 0.77}]
chr12 GH12I006745 6745071 6746763 1.12 [{'connected_gene': 'GC12P006747', 'score': 550.77}, {'connected_gene': 'MLF2', 'score': 10.29}, {'connected_gene': 'ENSG00000269892', 'score': 8.08}, {'connected_gene': 'PTPN6', 'score': 6.34}, {'connected_gene': 'CD4', 'score': 3.99}, {'connected_gene': 'CHD4', 'score': 2.45}, {'connected_gene': 'TAPBPL', 'score': 1.93}, {'connected_gene': 'VAMP1', 'score': 1.77}, {'connected_gene': 'ZNF384', 'score': 1.57}]

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