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
ENST00000538392 [[7052140, 7052407], [7052704, 7052825], [7053638, 7054229]] None
ENST00000542222 [[7052595, 7052825], [7053638, 7053815], [7054933, 7055166]] None
ENST00000545581 [[7052664, 7052825], [7053269, 7053336], [7053638, 7053815], [7054933, 7055084]] [[7053284, 7053336], [7053638, 7053815], [7054933, 7055084]]
ENST00000544681 [[7052979, 7053336], [7053638, 7054261]] [[7053284, 7053336], [7053638, 7053898]]
ENST00000537087 [[7052996, 7053336], [7053638, 7053728], [7054933, 7055165]] [[7053284, 7053336], [7053638, 7053728], [7054933, 7055085]]
ENST00000229281 [[7053185, 7053336], [7053638, 7053815], [7054933, 7055165]] [[7053284, 7053336], [7053638, 7053815], [7054933, 7055085]]
ENST00000540506 [[7053284, 7053336], [7053542, 7053815], [7054933, 7055159]] [[7053691, 7053815], [7054933, 7055085]]
NM_001301836 [[7052600, 7052825], [7053638, 7053815], [7054933, 7055166]] [[7052812, 7052825], [7053638, 7053815], [7054933, 7055085]]
NM_001301834 [[7052664, 7052825], [7053269, 7053336], [7053638, 7053815], [7054933, 7055166]] [[7053284, 7053336], [7053638, 7053815], [7054933, 7055085]]
NM_001301837 [[7052979, 7053336], [7053638, 7053728], [7054933, 7055166]] [[7053284, 7053336], [7053638, 7053728], [7054933, 7055085]]
NM_138425 [[7052979, 7053336], [7053638, 7053815], [7054933, 7055166]] [[7053284, 7053336], [7053638, 7053815], [7054933, 7055085]]
NR_126035 [[7052979, 7053336], [7053542, 7053728], [7054933, 7055166]] None
NM_001301838 [[7052979, 7053336], [7053542, 7053815], [7054933, 7055166]] [[7053691, 7053815], [7054933, 7055085]]
Promoter
Chrom Start End Description
chr12 7052081 7052105 CAGE_peak_5_at_C12orf57_5end
chr12 7052974 7052985 CAGE_peak_1_at_RNU7-1_5end,CAGE_peak_4_at_C12orf57_5end
chr12 7053172 7053197 CAGE_peak_1_at_C12orf57_5end
chr12 7053201 7053222 CAGE_peak_3_at_C12orf57_5end
chr12 7053228 7053260 CAGE_peak_2_at_C12orf57_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I006880 6880069 6881674 0.73 [{'connected_gene': 'SPSB2', 'score': 42.66}, {'connected_gene': 'USP5', 'score': 11.73}, {'connected_gene': 'CDCA3', 'score': 11.73}, {'connected_gene': 'GNB3', 'score': 11.55}, {'connected_gene': 'ATN1', 'score': 11.52}, {'connected_gene': 'RNU7-1', 'score': 11.1}, {'connected_gene': 'C12orf57', 'score': 11.1}, {'connected_gene': 'P3H3', 'score': 10.89}, {'connected_gene': 'GPR162', 'score': 10.88}, {'connected_gene': 'CD4', 'score': 10.82}, {'connected_gene': 'EMG1', 'score': 10.25}, {'connected_gene': 'SCARNA12', 'score': 10.25}, {'connected_gene': 'PHB2', 'score': 10.25}, {'connected_gene': 'ACRBP', 'score': 9.96}, {'connected_gene': 'C1RL', 'score': 9.96}, {'connected_gene': 'C1RL-AS1', 'score': 9.96}, {'connected_gene': 'LPAR5', 'score': 9.48}, {'connected_gene': 'DSTNP2', 'score': 0.77}, {'connected_gene': 'LRRC23', 'score': 0.44}, {'connected_gene': 'RPL13P5', 'score': 0.44}, {'connected_gene': 'LOC105369632', 'score': 0.44}]
chr12 GH12I006885 6885570 6888131 0.43 [{'connected_gene': 'SPSB2', 'score': 17.5}, {'connected_gene': 'ENO2', 'score': 12.85}, {'connected_gene': 'ATN1', 'score': 12.81}, {'connected_gene': 'USP5', 'score': 12.1}, {'connected_gene': 'CDCA3', 'score': 12.1}, {'connected_gene': 'C12orf57', 'score': 11.37}, {'connected_gene': 'RNU7-1', 'score': 11.37}, {'connected_gene': 'EMG1', 'score': 10.66}, {'connected_gene': 'SCARNA12', 'score': 10.66}, {'connected_gene': 'PHB2', 'score': 10.66}, {'connected_gene': 'DSTNP2', 'score': 0.77}, {'connected_gene': 'LOC105369632', 'score': 0.77}, {'connected_gene': 'LRRC23', 'score': 0.39}]
chr12 GH12I006933 6933441 6934688 0.69 [{'connected_gene': 'SPSB2', 'score': 22.75}, {'connected_gene': 'ATN1', 'score': 5.95}, {'connected_gene': 'C12orf57', 'score': 0.44}]
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 GH12I006923 6923732 6930569 2.54 [{'connected_gene': 'ATN1', 'score': 557.39}, {'connected_gene': 'ZNF384', 'score': 48.77}, {'connected_gene': 'LRRC23', 'score': 40.16}, {'connected_gene': 'CHD4', 'score': 38.87}, {'connected_gene': 'ENSG00000219410', 'score': 37.11}, {'connected_gene': 'ENSG00000247853', 'score': 34.12}, {'connected_gene': 'SCARNA12', 'score': 30.39}, {'connected_gene': 'EMG1', 'score': 25.25}, {'connected_gene': 'PHB2', 'score': 21.46}, {'connected_gene': 'RPL13P5', 'score': 20.8}, {'connected_gene': 'NCAPD2', 'score': 14.09}, {'connected_gene': 'USP5', 'score': 13.17}, {'connected_gene': 'SPSB2', 'score': 13.09}, {'connected_gene': 'NOP2', 'score': 12.74}, {'connected_gene': 'MIR200CHG', 'score': 11.79}, {'connected_gene': 'MIR200C', 'score': 11.79}, {'connected_gene': 'MIR141', 'score': 11.79}, {'connected_gene': 'TPI1', 'score': 11.13}, {'connected_gene': 'C1S', 'score': 10.95}, {'connected_gene': 'GDF3', 'score': 10.89}, {'connected_gene': 'C1R', 'score': 10.32}, {'connected_gene': 'LAG3', 'score': 10.12}, {'connected_gene': 'C1RL-AS1', 'score': 10.08}, {'connected_gene': 'RBP5', 'score': 5.41}, {'connected_gene': 'PTMS', 'score': 2.23}, {'connected_gene': 'ACSM4', 'score': 1.37}, {'connected_gene': 'C12orf57', 'score': 0.37}]
chr12 GH12I006931 6931406 6931669 0.36 [{'connected_gene': 'ATN1', 'score': 0.44}, {'connected_gene': 'C12orf57', 'score': 0.39}]
chr12 GH12I006934 6934982 6939891 1.99 [{'connected_gene': 'ZNF384', 'score': 24.18}, {'connected_gene': 'SPSB2', 'score': 17.22}, {'connected_gene': 'NOP2', 'score': 16.15}, {'connected_gene': 'ENSG00000219410', 'score': 16.15}, {'connected_gene': 'ING4', 'score': 15.17}, {'connected_gene': 'ENSG00000247853', 'score': 15.11}, {'connected_gene': 'SCARNA12', 'score': 14.13}, {'connected_gene': 'ENSG00000256967', 'score': 13.23}, {'connected_gene': 'LAG3', 'score': 12.17}, {'connected_gene': 'C1RL-AS1', 'score': 12.1}, {'connected_gene': 'CHD4', 'score': 12.01}, {'connected_gene': 'NCAPD2', 'score': 11.98}, {'connected_gene': 'LRRC23', 'score': 7.61}, {'connected_gene': 'EMG1', 'score': 4.49}, {'connected_gene': 'C12orf57', 'score': 0.44}, {'connected_gene': 'ATN1', 'score': 0.39}]
chr12 GH12I006459 6459004 6465283 1.28 [{'connected_gene': 'ZNF384', 'score': 101.83}, {'connected_gene': 'ENSG00000219410', 'score': 89.06}, {'connected_gene': 'CHD4', 'score': 81.9}, {'connected_gene': 'ENSG00000247853', 'score': 68.25}, {'connected_gene': 'TAPBPL', 'score': 49.98}, {'connected_gene': 'MRPL51', 'score': 41.68}, {'connected_gene': 'NOP2', 'score': 38.06}, {'connected_gene': 'SCARNA12', 'score': 37.23}, {'connected_gene': 'VAMP1', 'score': 32.25}, {'connected_gene': 'P3H3', 'score': 26.86}, {'connected_gene': 'EMG1', 'score': 22.14}, {'connected_gene': 'ENSG00000256967', 'score': 21.53}, {'connected_gene': 'SPSB2', 'score': 20.15}, {'connected_gene': 'C12orf57', 'score': 19.14}, {'connected_gene': 'LRRC23', 'score': 19.05}, {'connected_gene': 'GNB3', 'score': 14.55}, {'connected_gene': 'NCAPD2', 'score': 13.23}, {'connected_gene': 'LAG3', 'score': 12.3}, {'connected_gene': 'C1RL-AS1', 'score': 11.91}, {'connected_gene': 'ENO2', 'score': 11.76}, {'connected_gene': 'RPL13P5', 'score': 10.71}, {'connected_gene': 'ENSG00000255966', 'score': 10.7}, {'connected_gene': 'GAPDH', 'score': 10.7}, {'connected_gene': 'ING4', 'score': 10.52}, {'connected_gene': 'DSTNP2', 'score': 10.5}, {'connected_gene': 'PHB2', 'score': 10.39}, {'connected_gene': 'PLEKHG6', 'score': 10.06}, {'connected_gene': 'C1S', 'score': 9.79}, {'connected_gene': 'ATN1', 'score': 9.74}, {'connected_gene': 'ENSG00000276718', 'score': 0.77}]
chr12 GH12I006686 6686974 6690652 2.07 [{'connected_gene': 'ZNF384', 'score': 589.01}, {'connected_gene': 'ENSG00000219410', 'score': 41.24}, {'connected_gene': 'CHD4', 'score': 35.76}, {'connected_gene': 'ENSG00000247853', 'score': 25.06}, {'connected_gene': 'EMG1', 'score': 20.64}, {'connected_gene': 'SPSB2', 'score': 13.02}, {'connected_gene': 'NCAPD2', 'score': 12.71}, {'connected_gene': 'C12orf57', 'score': 10.8}, {'connected_gene': 'PHB2', 'score': 10.42}, {'connected_gene': 'NOP2', 'score': 10.24}, {'connected_gene': 'P3H3', 'score': 10.07}, {'connected_gene': 'SCARNA12', 'score': 9.93}, {'connected_gene': 'C1S', 'score': 9.82}, {'connected_gene': 'GC12P006672', 'score': 0.37}]
chr12 GH12I006932 6932918 6933067 0.51 [{'connected_gene': 'C12orf57', 'score': 0.44}, {'connected_gene': 'ATN1', 'score': 0.44}]
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 GH12I006930 6930837 6931278 0.2 [{'connected_gene': 'MIR200CHG', 'score': 11.81}, {'connected_gene': 'MIR200C', 'score': 11.81}, {'connected_gene': 'MIR141', 'score': 11.81}, {'connected_gene': 'EMG1', 'score': 11.79}, {'connected_gene': 'SCARNA12', 'score': 11.79}, {'connected_gene': 'PHB2', 'score': 11.79}, {'connected_gene': 'SPSB2', 'score': 10.61}, {'connected_gene': 'RPL13P5', 'score': 10.57}, {'connected_gene': 'LRRC23', 'score': 10.57}, {'connected_gene': 'TPI1', 'score': 10.55}, {'connected_gene': 'USP5', 'score': 10.53}, {'connected_gene': 'ATN1', 'score': 0.44}, {'connected_gene': 'C12orf57', 'score': 0.39}]
chr12 GH12I006826 6826830 6830565 2.24 [{'connected_gene': 'P3H3', 'score': 577.34}, {'connected_gene': 'ZNF384', 'score': 44.78}, {'connected_gene': 'ENSG00000219410', 'score': 40.9}, {'connected_gene': 'CHD4', 'score': 39.74}, {'connected_gene': 'ENSG00000247853', 'score': 35.22}, {'connected_gene': 'NCAPD2', 'score': 35.18}, {'connected_gene': 'NOP2', 'score': 31.09}, {'connected_gene': 'ATN1', 'score': 25.38}, {'connected_gene': 'SPSB2', 'score': 24.05}, {'connected_gene': 'EMG1', 'score': 23.74}, {'connected_gene': 'SCARNA12', 'score': 23.19}, {'connected_gene': 'ENSG00000256967', 'score': 21.8}, {'connected_gene': 'C1RL-AS1', 'score': 20.87}, {'connected_gene': 'ING4', 'score': 12.94}, {'connected_gene': 'LAG3', 'score': 12.47}, {'connected_gene': 'GNB3', 'score': 12.19}, {'connected_gene': 'GDF3', 'score': 11.46}, {'connected_gene': 'LRRC23', 'score': 10.2}, {'connected_gene': 'C12orf57', 'score': 10.19}, {'connected_gene': 'RPL13P5', 'score': 9.91}, {'connected_gene': 'ENSG00000272173', 'score': 5.01}, {'connected_gene': 'GPR162', 'score': 0.44}, {'connected_gene': 'GC12M006839', 'score': 0.39}]
chr12 GH12I006662 6662114 6664339 2.1 [{'connected_gene': 'ENSG00000219410', 'score': 602.28}, {'connected_gene': 'ING4', 'score': 565.88}, {'connected_gene': 'ZNF384', 'score': 56.45}, {'connected_gene': 'CHD4', 'score': 52.72}, {'connected_gene': 'ENSG00000247853', 'score': 35.33}, {'connected_gene': 'EMG1', 'score': 31.26}, {'connected_gene': 'NCAPD2', 'score': 26.91}, {'connected_gene': 'SPSB2', 'score': 23.91}, {'connected_gene': 'SCARNA12', 'score': 23.13}, {'connected_gene': 'NOP2', 'score': 22.27}, {'connected_gene': 'ENSG00000256967', 'score': 21.78}, {'connected_gene': 'C1RL-AS1', 'score': 20.85}, {'connected_gene': 'C12orf57', 'score': 19.16}, {'connected_gene': 'LAG3', 'score': 12.39}, {'connected_gene': 'ATN1', 'score': 11.12}, {'connected_gene': 'PHB2', 'score': 10.42}, {'connected_gene': 'ENSG00000272173', 'score': 10.41}, {'connected_gene': 'PEX5', 'score': 10.28}, {'connected_gene': 'P3H3', 'score': 10.05}, {'connected_gene': 'LRRC23', 'score': 10.01}, {'connected_gene': 'C1S', 'score': 9.82}, {'connected_gene': 'RPL13P5', 'score': 9.73}, {'connected_gene': 'ENSG00000202318', 'score': 4.6}]

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