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
ENST00000535707 [[6896023, 6896171], [6898654, 6898828], [6909237, 6909353], [6909472, 6909611]] None
ENST00000011653 [[6898637, 6898828], [6909237, 6909353], [6909472, 6909637], [6923307, 6923466], [6923924, 6924158], [6925221, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6929974]] [[6909304, 6909353], [6909472, 6909637], [6923307, 6923466], [6923924, 6924158], [6925221, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6928495]]
ENST00000536610 [[6898679, 6898828], [6908703, 6908789], [6909237, 6909353], [6909472, 6909637], [6923307, 6923399]] None
ENST00000544344 [[6898701, 6898828], [6923307, 6924236]] None
ENST00000541982 [[6898701, 6898828], [6909237, 6909353], [6923307, 6923466], [6923924, 6924158], [6924896, 6925447]] [[6909304, 6909353], [6923307, 6923466], [6923924, 6924158], [6924896, 6924901]]
ENST00000538827 [[6898701, 6898828], [6923307, 6923629], [6923924, 6924158], [6925221, 6925523]] None
ENST00000437800 [[6898701, 6898828], [6923307, 6923466], [6923924, 6924158], [6924896, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6928997]] None
ENST00000535466 [[6898702, 6898828], [6908045, 6908240], [6909237, 6909353], [6909472, 6909623]] None
ENST00000536590 [[6898705, 6898828], [6908490, 6908530], [6909237, 6909353], [6909472, 6909637], [6923307, 6923424]] None
ENST00000539492 [[6898733, 6898828], [6908045, 6908240], [6908703, 6908789], [6909237, 6909353], [6909472, 6909559]] [[6909304, 6909353], [6909472, 6909559]]
ENST00000536563 [[6922717, 6922768], [6923307, 6923466], [6923924, 6924158], [6925221, 6925370]] None
ENST00000543755 [[6923219, 6923629], [6923924, 6924008]] None
NM_001195017 [[6898637, 6898828], [6923307, 6923444], [6923924, 6924158], [6925221, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6929976]] [[6925433, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6928495]]
NM_001195016 [[6898637, 6898828], [6923307, 6923466], [6923924, 6924158], [6925221, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6929976]] [[6925433, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6928495]]
NM_001195014 [[6898637, 6898828], [6923307, 6923466], [6923924, 6924158], [6924896, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6929976]] [[6925151, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6928495]]
NM_001195015 [[6898637, 6898828], [6923307, 6923479], [6923924, 6924158], [6925221, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6929976]] [[6925433, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6928495]]
NM_000616 [[6898637, 6898828], [6909237, 6909353], [6909472, 6909637], [6923307, 6923466], [6923924, 6924158], [6925221, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6929976]] [[6909304, 6909353], [6909472, 6909637], [6923307, 6923466], [6923924, 6924158], [6925221, 6925569], [6926295, 6926496], [6927586, 6927708], [6928012, 6928080], [6928464, 6928495]]
Promoter
Chrom Start End Description
chr12 6898648 6898669 CAGE_peak_3_at_CD4_5end
chr12 6898674 6898739 CAGE_peak_1_at_CD4_5end
chr12 6898749 6898763 CAGE_peak_2_at_CD4_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I006425 6425423 6428970 1.35 [{'connected_gene': 'CD27', 'score': 7.11}, {'connected_gene': 'CD27-AS1', 'score': 5.27}, {'connected_gene': 'LRRC23', 'score': 3.96}, {'connected_gene': 'VAMP1', 'score': 2.92}, {'connected_gene': 'LPAR5', 'score': 2.87}, {'connected_gene': 'CD4', 'score': 2.37}, {'connected_gene': 'IFFO1', 'score': 1.99}, {'connected_gene': 'TAPBPL', 'score': 1.92}, {'connected_gene': 'ZNF384', 'score': 1.85}, {'connected_gene': 'SRP14P1', 'score': 0.39}, {'connected_gene': 'RPL31P10', 'score': 0.37}]
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 GH12I006784 6784248 6787581 0.97 [{'connected_gene': 'CD4', 'score': 566.93}, {'connected_gene': 'RN7SL380P', 'score': 550.77}, {'connected_gene': 'GPR162', 'score': 12.42}, {'connected_gene': 'P3H3', 'score': 12.41}, {'connected_gene': 'ZNF384', 'score': 10.95}, {'connected_gene': 'ENSG00000219410', 'score': 10.6}, {'connected_gene': 'ING4', 'score': 10.6}, {'connected_gene': 'ACRBP', 'score': 10.6}, {'connected_gene': 'PIANP', 'score': 10.54}, {'connected_gene': 'LPAR5', 'score': 10.4}, {'connected_gene': 'ENSG00000255966', 'score': 9.76}, {'connected_gene': 'GAPDH', 'score': 9.76}]
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 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 GH12I006331 6331769 6344507 2.62 [{'connected_gene': 'TNFRSF1A', 'score': 560.56}, {'connected_gene': 'ZNF384', 'score': 37.51}, {'connected_gene': 'ENSG00000219410', 'score': 36.87}, {'connected_gene': 'NOP2', 'score': 32.35}, {'connected_gene': 'ENSG00000247853', 'score': 29.96}, {'connected_gene': 'CHD4', 'score': 26.5}, {'connected_gene': 'SCARNA12', 'score': 24.3}, {'connected_gene': 'NCAPD2', 'score': 24.12}, {'connected_gene': 'SPSB2', 'score': 22.23}, {'connected_gene': 'ENSG00000256967', 'score': 18.97}, {'connected_gene': 'ING4', 'score': 15.16}, {'connected_gene': 'VAMP1', 'score': 13.14}, {'connected_gene': 'TAPBPL', 'score': 12.62}, {'connected_gene': 'SCNN1A', 'score': 12.61}, {'connected_gene': 'LTBR', 'score': 12.61}, {'connected_gene': 'CD27-AS1', 'score': 11.36}, {'connected_gene': 'PLEKHG6', 'score': 11.31}, {'connected_gene': 'EMG1', 'score': 10.89}, {'connected_gene': 'C1RL-AS1', 'score': 10.68}, {'connected_gene': 'ENSG00000255966', 'score': 10.66}, {'connected_gene': 'GAPDH', 'score': 10.66}, {'connected_gene': 'LPAR5', 'score': 9.49}, {'connected_gene': 'ACRBP', 'score': 9.49}, {'connected_gene': 'IFFO1', 'score': 5.36}, {'connected_gene': 'CD4', 'score': 3.9}]
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 GH12I006734 6734815 6734964 0.31 [{'connected_gene': 'PTMS', 'score': 12.61}, {'connected_gene': 'MLF2', 'score': 12.61}, {'connected_gene': 'LAG3', 'score': 12.6}, {'connected_gene': 'CD4', 'score': 11.58}, {'connected_gene': 'GPR162', 'score': 11.52}, {'connected_gene': 'P3H3', 'score': 11.51}, {'connected_gene': 'ENSG00000219410', 'score': 11.08}, {'connected_gene': 'ING4', 'score': 11.08}, {'connected_gene': 'ACRBP', 'score': 11.05}, {'connected_gene': 'CHD4', 'score': 10.96}, {'connected_gene': 'LPAR5', 'score': 10.72}, {'connected_gene': 'USP5', 'score': 10.64}, {'connected_gene': 'LRRC23', 'score': 10.63}, {'connected_gene': 'RPL13P5', 'score': 10.63}, {'connected_gene': 'TPI1', 'score': 10.63}, {'connected_gene': 'SPSB2', 'score': 10.61}, {'connected_gene': 'NOP2', 'score': 10.32}, {'connected_gene': 'IFFO1', 'score': 10.32}, {'connected_gene': 'ENSG00000269892', 'score': 0.44}, {'connected_gene': 'COPS7A', 'score': 0.39}]
chr12 GH12I006735 6735275 6736420 0.97 [{'connected_gene': 'PTMS', 'score': 12.63}, {'connected_gene': 'MLF2', 'score': 12.61}, {'connected_gene': 'LAG3', 'score': 12.6}, {'connected_gene': 'CD4', 'score': 11.58}, {'connected_gene': 'GPR162', 'score': 11.52}, {'connected_gene': 'P3H3', 'score': 11.51}, {'connected_gene': 'ENSG00000219410', 'score': 11.08}, {'connected_gene': 'ING4', 'score': 11.08}, {'connected_gene': 'ACRBP', 'score': 11.05}, {'connected_gene': 'CHD4', 'score': 10.96}, {'connected_gene': 'LPAR5', 'score': 10.72}, {'connected_gene': 'USP5', 'score': 10.64}, {'connected_gene': 'LRRC23', 'score': 10.63}, {'connected_gene': 'RPL13P5', 'score': 10.63}, {'connected_gene': 'TPI1', 'score': 10.63}, {'connected_gene': 'SPSB2', 'score': 10.61}, {'connected_gene': 'NOP2', 'score': 10.32}, {'connected_gene': 'IFFO1', 'score': 10.32}, {'connected_gene': 'COPS7A', 'score': 6.27}, {'connected_gene': 'ENSG00000269892', 'score': 0.44}]
chr12 GH12I006722 6722881 6725224 2.12 [{'connected_gene': 'COPS7A', 'score': 558.02}, {'connected_gene': 'ENSG00000270068', 'score': 550.77}, {'connected_gene': 'ENSG00000219410', 'score': 35.01}, {'connected_gene': 'CHD4', 'score': 31.73}, {'connected_gene': 'ZNF384', 'score': 31.66}, {'connected_gene': 'NOP2', 'score': 25.83}, {'connected_gene': 'ATN1', 'score': 20.21}, {'connected_gene': 'ENSG00000247853', 'score': 18.02}, {'connected_gene': 'NCAPD2', 'score': 13.91}, {'connected_gene': 'GNB3', 'score': 12.82}, {'connected_gene': 'SPSB2', 'score': 11.74}, {'connected_gene': 'CD4', 'score': 11.69}, {'connected_gene': 'GPR162', 'score': 11.63}, {'connected_gene': 'P3H3', 'score': 11.63}, {'connected_gene': 'SCARNA12', 'score': 11.54}, {'connected_gene': 'ING4', 'score': 11.43}, {'connected_gene': 'ACRBP', 'score': 11.22}, {'connected_gene': 'LPAR5', 'score': 11.1}, {'connected_gene': 'LAG3', 'score': 10.92}, {'connected_gene': 'ENSG00000256967', 'score': 10.57}, {'connected_gene': 'IFFO1', 'score': 10.46}, {'connected_gene': 'MRPL51', 'score': 5.23}, {'connected_gene': 'ENSG00000269892', 'score': 0.37}]
chr12 GH12I006821 6818895 6819024 0.58 [{'connected_gene': 'GPR162', 'score': 0.77}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12 GH12I006819 6819155 6819244 0.51 [{'connected_gene': 'GPR162', 'score': 0.77}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12 GH12I006822 6818635 6818804 0.63 [{'connected_gene': 'GPR162', 'score': 0.77}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12 GH12I006818 6818375 6818604 0.72 [{'connected_gene': 'GPR162', 'score': 0.77}, {'connected_gene': 'CD4', 'score': 0.29}]
chr12 GH12I006820 6820295 6822969 1.99 [{'connected_gene': 'GPR162', 'score': 550.77}, {'connected_gene': 'CHD4', 'score': 13.53}, {'connected_gene': 'ZNF384', 'score': 11.65}, {'connected_gene': 'EMG1', 'score': 5.34}, {'connected_gene': 'C1RL', 'score': 4.57}, {'connected_gene': 'P3H3', 'score': 0.44}, {'connected_gene': 'CD4', 'score': 0.29}]
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}]
chr12 GH12I006344 6344802 6348416 1.68 [{'connected_gene': 'GC12P006346', 'score': 550.77}, {'connected_gene': 'CHD4', 'score': 28.14}, {'connected_gene': 'ENSG00000219410', 'score': 24.65}, {'connected_gene': 'ZNF384', 'score': 24.17}, {'connected_gene': 'ENSG00000247853', 'score': 23.59}, {'connected_gene': 'PHB2', 'score': 13.33}, {'connected_gene': 'LTBR', 'score': 12.44}, {'connected_gene': 'SCNN1A', 'score': 12.42}, {'connected_gene': 'VAMP1', 'score': 12.36}, {'connected_gene': 'C1RL-AS1', 'score': 12.16}, {'connected_gene': 'ENSG00000256967', 'score': 11.92}, {'connected_gene': 'SCARNA12', 'score': 11.39}, {'connected_gene': 'SCARNA11', 'score': 10.62}, {'connected_gene': 'SPSB2', 'score': 10.03}, {'connected_gene': 'LPCAT3', 'score': 9.82}, {'connected_gene': 'ACRBP', 'score': 9.6}, {'connected_gene': 'IFFO1', 'score': 9.22}, {'connected_gene': 'NOP2', 'score': 9.22}, {'connected_gene': 'ING4', 'score': 8.92}, {'connected_gene': 'TNFRSF1A', 'score': 5.98}, {'connected_gene': 'TAPBPL', 'score': 5.69}, {'connected_gene': 'CD4', 'score': 2.85}, {'connected_gene': 'RN7SL391P', 'score': 0.77}, {'connected_gene': 'LOC105369626', 'score': 0.37}]

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