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
ENST00000376694 [[30130992, 30131842], [30134952, 30135048], [30136076, 30136307], [30137017, 30137040], [30138277, 30138393], [30138752, 30138785], [30139608, 30140473]] [[30131461, 30131842], [30134952, 30135048], [30136076, 30136307], [30137017, 30137040], [30138277, 30138393], [30138752, 30138785], [30139608, 30140126]]
ENST00000376688 [[30131461, 30131769], [30137268, 30137275], [30140351, 30140384]] [[30131461, 30131769], [30137268, 30137275], [30140351, 30140384]]
ENST00000433744 [[30136089, 30136307], [30137017, 30137040], [30138277, 30138393], [30138752, 30138785], [30139631, 30139732]] [[30136089, 30136307], [30137017, 30137040], [30138277, 30138393], [30138752, 30138785], [30139631, 30139732]]
ENST00000477944 [[30138089, 30138393], [30138752, 30138874]] None
NM_033229 [[30130982, 30131842], [30134952, 30135048], [30136076, 30136307], [30137017, 30137040], [30138277, 30138393], [30138752, 30138785], [30139608, 30140473]] [[30131461, 30131842], [30134952, 30135048], [30136076, 30136307], [30137017, 30137040], [30138277, 30138393], [30138752, 30138785], [30139608, 30140126]]
NM_033229 [[1371201, 1372061], [1375171, 1375267], [1376295, 1376526], [1377236, 1377259], [1378496, 1378612], [1378971, 1379004], [1379827, 1380692]] [[1371680, 1372061], [1375171, 1375267], [1376295, 1376526], [1377236, 1377259], [1378496, 1378612], [1378971, 1379004], [1379827, 1380345]]
NM_033229 [[1643109, 1643969], [1647079, 1647175], [1648203, 1648434], [1649144, 1649167], [1650404, 1650520], [1650879, 1650912], [1651735, 1652600]] [[1643588, 1643969], [1647079, 1647175], [1648203, 1648434], [1649144, 1649167], [1650404, 1650520], [1650879, 1650912], [1651735, 1652253]]
NM_033229 [[1424691, 1425551], [1428661, 1428757], [1429785, 1430016], [1430726, 1430749], [1431986, 1432102], [1432461, 1432494], [1433317, 1434182]] [[1425170, 1425551], [1428661, 1428757], [1429785, 1430016], [1430726, 1430749], [1431986, 1432102], [1432461, 1432494], [1433317, 1433835]]
NM_033229 [[1512863, 1513723], [1516833, 1516929], [1517957, 1518188], [1518898, 1518921], [1520158, 1520274], [1520633, 1520666], [1521489, 1522354]] [[1513342, 1513723], [1516833, 1516929], [1517957, 1518188], [1518898, 1518921], [1520158, 1520274], [1520633, 1520666], [1521489, 1522007]]
NM_033229 [[1423929, 1424789], [1427899, 1427995], [1429023, 1429254], [1429964, 1429987], [1431224, 1431340], [1431699, 1431732], [1432555, 1433420]] [[1424408, 1424789], [1427899, 1427995], [1429023, 1429254], [1429964, 1429987], [1431224, 1431340], [1431699, 1431732], [1432555, 1433073]]
NM_033229 [[1479527, 1480387], [1483497, 1483593], [1484621, 1484852], [1485562, 1485585], [1486822, 1486938], [1487297, 1487330], [1488153, 1489018]] [[1480006, 1480387], [1483497, 1483593], [1484621, 1484852], [1485562, 1485585], [1486822, 1486938], [1487297, 1487330], [1488153, 1488671]]
NM_033229 [[1461434, 1462294], [1465404, 1465500], [1466528, 1466759], [1467469, 1467492], [1468729, 1468845], [1469204, 1469237], [1470060, 1470925]] [[1461913, 1462294], [1465404, 1465500], [1466528, 1466759], [1467469, 1467492], [1468729, 1468845], [1469204, 1469237], [1470060, 1470578]]
Promoter
Chrom Start End Description
chr6 30130969 30131007 CAGE_peak_3_at_TRIM15_5end
chr6 30131287 30131298 CAGE_peak_2_at_TRIM15_5end
chr6 30131318 30131342 CAGE_peak_1_at_TRIM15_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I030143 30143656 30145409 0.64 [{'connected_gene': 'HLA-U', 'score': 34.62}, {'connected_gene': 'TRIM40', 'score': 32.86}, {'connected_gene': 'TRIM31', 'score': 31.09}, {'connected_gene': 'ZFP57', 'score': 12.25}, {'connected_gene': 'DHX16', 'score': 9.97}, {'connected_gene': 'HCG4P3', 'score': 6.75}, {'connected_gene': 'IFITM4P', 'score': 4.32}, {'connected_gene': 'TRIM15', 'score': 0.37}]
chr6 GH06I030153 30153516 30157325 1.19 [{'connected_gene': 'HLA-U', 'score': 38.22}, {'connected_gene': 'TRIM31', 'score': 31.34}, {'connected_gene': 'HCG18', 'score': 24.75}, {'connected_gene': 'MDC1', 'score': 15.16}, {'connected_gene': 'HCG4P7', 'score': 14.27}, {'connected_gene': 'ETF1P1', 'score': 13.77}, {'connected_gene': 'PPP1R10', 'score': 13.73}, {'connected_gene': 'HLA-A', 'score': 13.33}, {'connected_gene': 'PAIP1P1', 'score': 12.48}, {'connected_gene': 'TRIM39', 'score': 12.14}, {'connected_gene': 'TRIM31-AS1', 'score': 11.89}, {'connected_gene': 'GTF2H4', 'score': 11.74}, {'connected_gene': 'TRIM26', 'score': 11.41}, {'connected_gene': 'DHX16', 'score': 10.62}, {'connected_gene': 'HLA-H', 'score': 8.68}, {'connected_gene': 'HLA-K', 'score': 7.55}, {'connected_gene': 'TRIM40', 'score': 5.54}, {'connected_gene': 'IFITM4P', 'score': 3.66}, {'connected_gene': 'TRIM10', 'score': 0.44}, {'connected_gene': 'TRIM15', 'score': 0.44}]
chr6 GH06I030133 30133515 30137708 1.39 [{'connected_gene': 'TRIM40', 'score': 558.24}, {'connected_gene': 'TRIM31', 'score': 47.03}, {'connected_gene': 'HLA-K', 'score': 14.53}, {'connected_gene': 'HLA-A', 'score': 14.26}, {'connected_gene': 'HCG4P3', 'score': 13.63}, {'connected_gene': 'TRIM31-AS1', 'score': 12.5}, {'connected_gene': 'TRIM10', 'score': 12.03}, {'connected_gene': 'TRIM15', 'score': 12.03}, {'connected_gene': 'PPP1R10', 'score': 11.38}, {'connected_gene': 'TRIM39', 'score': 11.23}, {'connected_gene': 'TRIM26', 'score': 10.12}, {'connected_gene': 'PAIP1P1', 'score': 10.03}, {'connected_gene': 'ZNRD1', 'score': 9.94}, {'connected_gene': 'MDC1', 'score': 9.88}, {'connected_gene': 'LINC00243', 'score': 8.4}, {'connected_gene': 'RPL23AP1', 'score': 7.49}, {'connected_gene': 'HLA-G', 'score': 7.07}, {'connected_gene': 'HLA-F', 'score': 6.59}, {'connected_gene': 'HCG18', 'score': 5.21}, {'connected_gene': 'HLA-W', 'score': 3.77}]
chr6 GH06I030129 30129382 30132433 1.19 [{'connected_gene': 'TRIM40', 'score': 38.46}, {'connected_gene': 'TRIM31', 'score': 30.54}, {'connected_gene': 'TRIM31-AS1', 'score': 13.15}, {'connected_gene': 'TRIM10', 'score': 12.09}, {'connected_gene': 'TRIM15', 'score': 12.09}, {'connected_gene': 'HLA-A', 'score': 4.52}, {'connected_gene': 'HCG18', 'score': 3.94}, {'connected_gene': 'GC06M030355', 'score': 0.77}, {'connected_gene': 'ENSG00000252228', 'score': 0.77}]
chr6 GH06I030171 30171847 30173572 0.52 [{'connected_gene': 'TRIM31', 'score': 37.91}, {'connected_gene': 'HLA-U', 'score': 32.75}, {'connected_gene': 'HLA-K', 'score': 15.38}, {'connected_gene': 'TRIM31-AS1', 'score': 12.35}, {'connected_gene': 'HCG4', 'score': 9.52}, {'connected_gene': 'HCG18', 'score': 5.49}, {'connected_gene': 'TRIM40', 'score': 4.9}, {'connected_gene': 'HCG4B', 'score': 4.17}, {'connected_gene': 'TRIM10', 'score': 0.44}, {'connected_gene': 'TRIM15', 'score': 0.44}, {'connected_gene': 'PAIP1P1', 'score': 0.37}]
chr6 GH06I030170 30170144 30170233 0.81 [{'connected_gene': 'TRIM31', 'score': 12.37}, {'connected_gene': 'TRIM31-AS1', 'score': 12.36}, {'connected_gene': 'TRIM10', 'score': 0.44}, {'connected_gene': 'TRIM15', 'score': 0.44}, {'connected_gene': 'PAIP1P1', 'score': 0.37}]
chr6 GH06I030162 30162370 30165161 1.51 [{'connected_gene': 'TRIM10', 'score': 550.77}, {'connected_gene': 'TRIM15', 'score': 550.77}, {'connected_gene': 'MDC1', 'score': 161.69}, {'connected_gene': 'GTF2H4', 'score': 119.37}, {'connected_gene': 'HCG18', 'score': 107.07}, {'connected_gene': 'ZNRD1ASP', 'score': 96.85}, {'connected_gene': 'PPP1R10', 'score': 73.27}, {'connected_gene': 'TRIM39', 'score': 72.64}, {'connected_gene': 'ETF1P1', 'score': 63.36}, {'connected_gene': 'PAIP1P1', 'score': 60.79}, {'connected_gene': 'DHX16', 'score': 58.05}, {'connected_gene': 'HLA-U', 'score': 53.35}, {'connected_gene': 'HCG4P7', 'score': 48.03}, {'connected_gene': 'TRIM26', 'score': 43.7}, {'connected_gene': 'TCF19', 'score': 42.07}, {'connected_gene': 'CCHCR1', 'score': 41.89}, {'connected_gene': 'ATAT1', 'score': 37.59}, {'connected_gene': 'HLA-H', 'score': 31.17}, {'connected_gene': 'GNL1', 'score': 31.11}, {'connected_gene': 'ABCF1', 'score': 30.18}, {'connected_gene': 'ZNRD1', 'score': 29.88}, {'connected_gene': 'HLA-F-AS1', 'score': 24.83}, {'connected_gene': 'HLA-K', 'score': 24.72}, {'connected_gene': 'HCG17', 'score': 23.42}, {'connected_gene': 'MICD', 'score': 23.0}, {'connected_gene': 'MICE', 'score': 21.61}, {'connected_gene': 'PRR3', 'score': 20.88}, {'connected_gene': 'ENSG00000272540', 'score': 20.38}, {'connected_gene': 'HLA-W', 'score': 13.4}, {'connected_gene': 'NRM', 'score': 12.52}, {'connected_gene': 'TRIM31', 'score': 11.96}, {'connected_gene': 'TRIM31-AS1', 'score': 11.95}, {'connected_gene': 'HCG9P5', 'score': 11.55}, {'connected_gene': 'GABBR1', 'score': 11.09}, {'connected_gene': 'RPP21', 'score': 10.99}, {'connected_gene': 'HCG4P3', 'score': 10.61}, {'connected_gene': 'HLA-J', 'score': 10.42}, {'connected_gene': 'SUMO2P1', 'score': 9.66}, {'connected_gene': 'RPL23AP1', 'score': 6.08}, {'connected_gene': 'TRIM40', 'score': 4.51}]
chr6 GH06I030160 30160889 30160948 0.5 [{'connected_gene': 'TRIM10', 'score': 550.77}, {'connected_gene': 'TRIM15', 'score': 0.77}, {'connected_gene': 'TRIM40', 'score': 0.31}]