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
ENST00000266557 [[6554032, 6554397], [6554589, 6554721], [6559338, 6559518], [6559706, 6559796], [6560060, 6560180], [6560433, 6560884]] [[6554261, 6554397], [6554589, 6554721], [6559338, 6559518], [6559706, 6559796], [6560060, 6560180], [6560433, 6560558]]
ENST00000541233 [[6554517, 6554721], [6559338, 6559518], [6559706, 6559796], [6560060, 6560180], [6560433, 6560884]] None
NM_001242 [[6554050, 6554397], [6554589, 6554721], [6559338, 6559518], [6559706, 6559796], [6560060, 6560180], [6560433, 6560884]] [[6554261, 6554397], [6554589, 6554721], [6559338, 6559518], [6559706, 6559796], [6560060, 6560180], [6560433, 6560558]]
Promoter
Chrom Start End Description
chr12 6554021 6554040 CAGE_peak_4_at_CD27_5end
chr12 6554098 6554131 CAGE_peak_1_at_CD27_5end
chr12 6554134 6554145 CAGE_peak_3_at_CD27_5end
chr12 6554146 6554159 CAGE_peak_2_at_CD27_5end
chr12 6554307 6554320 CAGE_peak_5_at_CD27_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I007111 7111813 7113967 0.59 [{'connected_gene': 'CLSTN3', 'score': 21.6}, {'connected_gene': 'C1RL-AS1', 'score': 5.67}, {'connected_gene': 'CD27', 'score': 4.79}, {'connected_gene': 'ENSG00000256967', 'score': 4.68}, {'connected_gene': 'ENSG00000276144', 'score': 0.77}, {'connected_gene': 'C1RL', 'score': 0.77}]
chr12 GH12I006442 6442487 6448504 1.72 [{'connected_gene': 'CD27', 'score': 550.77}, {'connected_gene': 'CD27-AS1', 'score': 23.46}, {'connected_gene': 'TAPBPL', 'score': 16.49}, {'connected_gene': 'ENSG00000255966', 'score': 11.55}, {'connected_gene': 'GAPDH', 'score': 11.55}, {'connected_gene': 'VAMP1', 'score': 11.46}, {'connected_gene': 'TNFRSF1A', 'score': 11.18}, {'connected_gene': 'NCAPD2', 'score': 11.1}, {'connected_gene': 'SCARNA10', 'score': 11.06}, {'connected_gene': 'IFFO1', 'score': 10.59}, {'connected_gene': 'NOP2', 'score': 10.4}, {'connected_gene': 'CHD4', 'score': 10.37}, {'connected_gene': 'LTBR', 'score': 5.3}, {'connected_gene': 'CDCA3', 'score': 4.41}]
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 GH12I006476 6476015 6477324 0.2 [{'connected_gene': 'PKP2P1', 'score': 550.77}, {'connected_gene': 'TAPBPL', 'score': 55.46}, {'connected_gene': 'VAMP1', 'score': 33.13}, {'connected_gene': 'CD27-AS1', 'score': 11.78}, {'connected_gene': 'CD27', 'score': 11.16}, {'connected_gene': 'IFFO1', 'score': 11.0}, {'connected_gene': 'NOP2', 'score': 10.93}, {'connected_gene': 'CHD4', 'score': 10.89}, {'connected_gene': 'MRPL51', 'score': 7.44}, {'connected_gene': 'GC12P006475', 'score': 0.77}]
chr12 GH12I006477 6477670 6477929 0.25 [{'connected_gene': 'PKP2P1', 'score': 550.77}, {'connected_gene': 'TAPBPL', 'score': 11.78}, {'connected_gene': 'CD27-AS1', 'score': 11.78}, {'connected_gene': 'CD27', 'score': 11.16}, {'connected_gene': 'IFFO1', 'score': 11.0}, {'connected_gene': 'NOP2', 'score': 10.93}, {'connected_gene': 'CHD4', 'score': 10.9}, {'connected_gene': 'PLEKHG6', 'score': 2.39}, {'connected_gene': 'TPI1', 'score': 1.71}, {'connected_gene': 'NCAPD2', 'score': 0.37}]
chr12 GH12I006478 6478451 6479284 0.2 [{'connected_gene': 'PKP2P1', 'score': 550.77}, {'connected_gene': 'TAPBPL', 'score': 37.99}, {'connected_gene': 'CD27-AS1', 'score': 11.78}, {'connected_gene': 'SCARNA10', 'score': 11.53}, {'connected_gene': 'CD27', 'score': 11.16}, {'connected_gene': 'IFFO1', 'score': 11.0}, {'connected_gene': 'NOP2', 'score': 10.94}, {'connected_gene': 'CHD4', 'score': 10.9}, {'connected_gene': 'VAMP1', 'score': 7.62}, {'connected_gene': 'NCAPD2', 'score': 0.39}]
chr12 GH12I006472 6472015 6472224 0.46 [{'connected_gene': 'VAMP1', 'score': 550.77}, {'connected_gene': 'GC12P006475', 'score': 550.77}, {'connected_gene': 'MRPL51', 'score': 44.58}, {'connected_gene': 'TAPBPL', 'score': 11.81}, {'connected_gene': 'CD27-AS1', 'score': 11.81}, {'connected_gene': 'NCAPD2', 'score': 11.58}, {'connected_gene': 'SCARNA10', 'score': 11.52}, {'connected_gene': 'ENSG00000255966', 'score': 11.49}, {'connected_gene': 'GAPDH', 'score': 11.49}, {'connected_gene': 'CD27', 'score': 11.17}, {'connected_gene': 'IFFO1', 'score': 10.99}, {'connected_gene': 'NOP2', 'score': 10.92}, {'connected_gene': 'CHD4', 'score': 10.89}, {'connected_gene': 'ENSG00000219410', 'score': 10.07}, {'connected_gene': 'ING4', 'score': 10.07}, {'connected_gene': 'LPAR5', 'score': 9.88}, {'connected_gene': 'ACRBP', 'score': 9.63}]
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 GH12I006492 6492367 6495907 2.08 [{'connected_gene': 'MRPL51', 'score': 598.25}, {'connected_gene': 'NCAPD2', 'score': 562.71}, {'connected_gene': 'TAPBPL', 'score': 39.78}, {'connected_gene': 'ZNF384', 'score': 37.77}, {'connected_gene': 'NOP2', 'score': 36.0}, {'connected_gene': 'CHD4', 'score': 32.22}, {'connected_gene': 'ENSG00000247853', 'score': 29.0}, {'connected_gene': 'ENSG00000219410', 'score': 28.24}, {'connected_gene': 'SCARNA12', 'score': 13.88}, {'connected_gene': 'ENSG00000256967', 'score': 13.17}, {'connected_gene': 'LAG3', 'score': 12.13}, {'connected_gene': 'C1RL-AS1', 'score': 12.04}, {'connected_gene': 'VAMP1', 'score': 12.01}, {'connected_gene': 'ENSG00000255966', 'score': 11.98}, {'connected_gene': 'GAPDH', 'score': 11.98}, {'connected_gene': 'SPSB2', 'score': 11.81}, {'connected_gene': 'CD27-AS1', 'score': 11.56}, {'connected_gene': 'CD27', 'score': 11.3}, {'connected_gene': 'IFFO1', 'score': 11.14}, {'connected_gene': 'GC12P006521', 'score': 0.37}]
chr12 GH12I006321 6321840 6328346 1.38 [{'connected_gene': 'ING4', 'score': 21.96}, {'connected_gene': 'ATN1', 'score': 15.91}, {'connected_gene': 'VAMP1', 'score': 15.13}, {'connected_gene': 'LTBR', 'score': 11.99}, {'connected_gene': 'SCNN1A', 'score': 11.98}, {'connected_gene': 'GNB3', 'score': 11.83}, {'connected_gene': 'TAPBPL', 'score': 11.58}, {'connected_gene': 'CD27-AS1', 'score': 11.58}, {'connected_gene': 'P3H3', 'score': 11.51}, {'connected_gene': 'CD27', 'score': 11.5}, {'connected_gene': 'ENSG00000255966', 'score': 10.64}, {'connected_gene': 'GAPDH', 'score': 10.64}, {'connected_gene': 'IFFO1', 'score': 10.27}, {'connected_gene': 'CD9', 'score': 10.14}, {'connected_gene': 'NOP2', 'score': 9.74}, {'connected_gene': 'CHD4', 'score': 9.73}, {'connected_gene': 'ACRBP', 'score': 9.52}, {'connected_gene': 'ENSG00000219410', 'score': 9.13}, {'connected_gene': 'VWF', 'score': 8.83}, {'connected_gene': 'ANO2', 'score': 5.36}, {'connected_gene': 'PLEKHG6', 'score': 0.39}, {'connected_gene': 'TNFRSF1A', 'score': 0.37}]
chr12 GH12I007107 7107102 7110032 2.05 [{'connected_gene': 'C1RL-AS1', 'score': 555.97}, {'connected_gene': 'C1RL', 'score': 550.77}, {'connected_gene': 'ENSG00000256967', 'score': 40.73}, {'connected_gene': 'ZNF384', 'score': 13.3}, {'connected_gene': 'NCAPD2', 'score': 12.35}, {'connected_gene': 'SPSB2', 'score': 12.11}, {'connected_gene': 'ENSG00000219410', 'score': 11.3}, {'connected_gene': 'ENSG00000247853', 'score': 11.27}, {'connected_gene': 'PEX5', 'score': 7.29}, {'connected_gene': 'CLSTN3', 'score': 6.56}, {'connected_gene': 'CD27', 'score': 4.85}]
chr12 GH12I006416 6416401 6417488 0.76 [{'connected_gene': 'CHD4', 'score': 15.94}, {'connected_gene': 'VAMP1', 'score': 12.37}, {'connected_gene': 'SCNN1A', 'score': 12.3}, {'connected_gene': 'LTBR', 'score': 12.29}, {'connected_gene': 'CD27', 'score': 12.15}, {'connected_gene': 'TAPBPL', 'score': 12.01}, {'connected_gene': 'CD27-AS1', 'score': 12.01}, {'connected_gene': 'ENSG00000255966', 'score': 11.25}, {'connected_gene': 'GAPDH', 'score': 11.25}, {'connected_gene': 'NCAPD2', 'score': 11.15}, {'connected_gene': 'TNFRSF1A', 'score': 11.14}, {'connected_gene': 'SCARNA10', 'score': 11.13}, {'connected_gene': 'PLEKHG6', 'score': 10.92}, {'connected_gene': 'IFFO1', 'score': 10.5}, {'connected_gene': 'SCARNA11', 'score': 10.26}, {'connected_gene': 'ENSG00000247853', 'score': 10.26}, {'connected_gene': 'NOP2', 'score': 10.11}, {'connected_gene': 'CD9', 'score': 9.35}, {'connected_gene': 'ZNF384', 'score': 2.42}, {'connected_gene': 'RPL31P10', 'score': 0.44}, {'connected_gene': 'SRP14P1', 'score': 0.34}]
chr12 GH12I006391 6391364 6393505 0.96 [{'connected_gene': 'LOC105369628', 'score': 567.09}, {'connected_gene': 'GC12P006396', 'score': 550.77}, {'connected_gene': 'LTBR', 'score': 30.83}, {'connected_gene': 'TNFRSF1A', 'score': 11.95}, {'connected_gene': 'CD27', 'score': 11.59}, {'connected_gene': 'NCAPD2', 'score': 11.03}, {'connected_gene': 'SCARNA10', 'score': 11.01}, {'connected_gene': 'VAMP1', 'score': 10.7}, {'connected_gene': 'ENSG00000255966', 'score': 10.38}, {'connected_gene': 'GAPDH', 'score': 10.38}, {'connected_gene': 'IFFO1', 'score': 10.29}, {'connected_gene': 'NOP2', 'score': 10.29}, {'connected_gene': 'CHD4', 'score': 10.27}, {'connected_gene': 'ACRBP', 'score': 9.06}, {'connected_gene': 'ENSG00000219410', 'score': 9.05}, {'connected_gene': 'ING4', 'score': 9.05}, {'connected_gene': 'SCNN1A', 'score': 0.39}]
chr12 GH12I006525 6525412 6527669 0.31 [{'connected_gene': 'PIR34682', 'score': 550.77}, {'connected_gene': 'TAPBPL', 'score': 25.43}, {'connected_gene': 'IFFO1', 'score': 11.47}, {'connected_gene': 'ENSG00000247853', 'score': 11.33}, {'connected_gene': 'SCARNA11', 'score': 11.32}, {'connected_gene': 'CHD4', 'score': 11.28}, {'connected_gene': 'NOP2', 'score': 11.06}, {'connected_gene': 'CD27', 'score': 10.63}, {'connected_gene': 'PLEKHG6', 'score': 9.52}, {'connected_gene': 'MRPL51', 'score': 7.55}, {'connected_gene': 'ENSG00000255966', 'score': 0.44}, {'connected_gene': 'NCAPD2', 'score': 0.29}]

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