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
ENST00000376704 [[30119721, 30121548], [30122087, 30122263], [30123503, 30123536], [30124715, 30124831], [30125145, 30125168], [30126175, 30126406], [30126926, 30127022], [30128206, 30128711]] [[30121464, 30121548], [30122087, 30122263], [30123503, 30123536], [30124715, 30124831], [30125145, 30125168], [30126175, 30126406], [30126926, 30127022], [30128206, 30128635]]
ENST00000449742 [[30119721, 30122263], [30123503, 30123536], [30124715, 30124831], [30125145, 30125168], [30126175, 30126406], [30126926, 30127022], [30128206, 30128711]] [[30121745, 30122263], [30123503, 30123536], [30124715, 30124831], [30125145, 30125168], [30126175, 30126406], [30126926, 30127022], [30128206, 30128635]]
NM_006778 [[30119721, 30122263], [30123503, 30123536], [30124715, 30124831], [30125145, 30125168], [30126175, 30126406], [30126926, 30127022], [30128206, 30128711]] [[30121745, 30122263], [30123503, 30123536], [30124715, 30124831], [30125145, 30125168], [30126175, 30126406], [30126926, 30127022], [30128206, 30128635]]
NM_052828 [[30119721, 30121548], [30122087, 30122263], [30123503, 30123536], [30124715, 30124831], [30125145, 30125168], [30126175, 30126406], [30126926, 30127022], [30128206, 30128711]] [[30121464, 30121548], [30122087, 30122263], [30123503, 30123536], [30124715, 30124831], [30125145, 30125168], [30126175, 30126406], [30126926, 30127022], [30128206, 30128635]]
NM_006778 [[1359956, 1362498], [1363738, 1363771], [1364950, 1365066], [1365380, 1365403], [1366409, 1366640], [1367160, 1367256], [1368440, 1368945]] [[1361980, 1362498], [1363738, 1363771], [1364950, 1365066], [1365380, 1365403], [1366409, 1366640], [1367160, 1367256], [1368440, 1368869]]
NM_052828 [[1359956, 1361783], [1362322, 1362498], [1363738, 1363771], [1364950, 1365066], [1365380, 1365403], [1366409, 1366640], [1367160, 1367256], [1368440, 1368945]] [[1361699, 1361783], [1362322, 1362498], [1363738, 1363771], [1364950, 1365066], [1365380, 1365403], [1366409, 1366640], [1367160, 1367256], [1368440, 1368869]]
NM_006778 [[1631858, 1634400], [1635640, 1635673], [1636852, 1636968], [1637282, 1637305], [1638310, 1638541], [1639061, 1639157], [1640341, 1640846]] [[1633882, 1634400], [1635640, 1635673], [1636852, 1636968], [1637282, 1637305], [1638310, 1638541], [1639061, 1639157], [1640341, 1640770]]
NM_052828 [[1631858, 1633685], [1634224, 1634400], [1635640, 1635673], [1636852, 1636968], [1637282, 1637305], [1638310, 1638541], [1639061, 1639157], [1640341, 1640846]] [[1633601, 1633685], [1634224, 1634400], [1635640, 1635673], [1636852, 1636968], [1637282, 1637305], [1638310, 1638541], [1639061, 1639157], [1640341, 1640770]]
NM_006778 [[1413446, 1415988], [1417228, 1417261], [1418440, 1418556], [1418870, 1418893], [1419899, 1420130], [1420650, 1420746], [1421930, 1422435]] [[1415470, 1415988], [1417228, 1417261], [1418440, 1418556], [1418870, 1418893], [1419899, 1420130], [1420650, 1420746], [1421930, 1422359]]
NM_052828 [[1413446, 1415273], [1415812, 1415988], [1417228, 1417261], [1418440, 1418556], [1418870, 1418893], [1419899, 1420130], [1420650, 1420746], [1421930, 1422435]] [[1415189, 1415273], [1415812, 1415988], [1417228, 1417261], [1418440, 1418556], [1418870, 1418893], [1419899, 1420130], [1420650, 1420746], [1421930, 1422359]]
NM_006778 [[1501604, 1504149], [1505389, 1505422], [1506601, 1506717], [1507031, 1507054], [1508060, 1508291], [1508811, 1508907], [1510091, 1510596]] [[1503631, 1504149], [1505389, 1505422], [1506601, 1506717], [1507031, 1507054], [1508060, 1508291], [1508811, 1508907], [1510091, 1510520]]
NM_052828 [[1501604, 1503434], [1503973, 1504149], [1505389, 1505422], [1506601, 1506717], [1507031, 1507054], [1508060, 1508291], [1508811, 1508907], [1510091, 1510596]] [[1503350, 1503434], [1503973, 1504149], [1505389, 1505422], [1506601, 1506717], [1507031, 1507054], [1508060, 1508291], [1508811, 1508907], [1510091, 1510520]]
NM_006778 [[1412669, 1415211], [1416451, 1416484], [1417663, 1417779], [1418093, 1418116], [1419122, 1419353], [1419873, 1419969], [1421153, 1421658]] [[1414693, 1415211], [1416451, 1416484], [1417663, 1417779], [1418093, 1418116], [1419122, 1419353], [1419873, 1419969], [1421153, 1421582]]
NM_052828 [[1412669, 1414496], [1415035, 1415211], [1416451, 1416484], [1417663, 1417779], [1418093, 1418116], [1419122, 1419353], [1419873, 1419969], [1421153, 1421658]] [[1414412, 1414496], [1415035, 1415211], [1416451, 1416484], [1417663, 1417779], [1418093, 1418116], [1419122, 1419353], [1419873, 1419969], [1421153, 1421582]]
NM_006778 [[1468286, 1470828], [1472068, 1472101], [1473280, 1473396], [1473710, 1473733], [1474739, 1474970], [1475490, 1475586], [1476770, 1477275]] [[1470310, 1470828], [1472068, 1472101], [1473280, 1473396], [1473710, 1473733], [1474739, 1474970], [1475490, 1475586], [1476770, 1477199]]
NM_052828 [[1468286, 1470113], [1470652, 1470828], [1472068, 1472101], [1473280, 1473396], [1473710, 1473733], [1474739, 1474970], [1475490, 1475586], [1476770, 1477275]] [[1470029, 1470113], [1470652, 1470828], [1472068, 1472101], [1473280, 1473396], [1473710, 1473733], [1474739, 1474970], [1475490, 1475586], [1476770, 1477199]]
NM_006778 [[1450167, 1452712], [1453952, 1453985], [1455164, 1455280], [1455594, 1455617], [1456623, 1456854], [1457374, 1457470], [1458654, 1459159]] [[1452194, 1452712], [1453952, 1453985], [1455164, 1455280], [1455594, 1455617], [1456623, 1456854], [1457374, 1457470], [1458654, 1459083]]
NM_052828 [[1450167, 1451997], [1452536, 1452712], [1453952, 1453985], [1455164, 1455280], [1455594, 1455617], [1456623, 1456854], [1457374, 1457470], [1458654, 1459159]] [[1451913, 1451997], [1452536, 1452712], [1453952, 1453985], [1455164, 1455280], [1455594, 1455617], [1456623, 1456854], [1457374, 1457470], [1458654, 1459083]]
Promoter
Chrom Start End Description
chr6 30128290 30128318 CAGE_peak_6_at_TRIM10_5end
chr6 30128647 30128656 CAGE_peak_9_at_TRIM10_5end
chr6 30128657 30128681 CAGE_peak_2_at_TRIM10_5end
chr6 30128747 30128756 CAGE_peak_8_at_TRIM10_5end
chr6 30128954 30128971 CAGE_peak_3_at_TRIM10_5end
chr6 30128977 30129005 CAGE_peak_1_at_TRIM10_5end
chr6 30129008 30129011 CAGE_peak_10_at_TRIM10_5end
chr6 30129012 30129022 CAGE_peak_5_at_TRIM10_5end
chr6 30129028 30129031 CAGE_peak_13_at_TRIM10_5end
chr6 30129053 30129065 CAGE_peak_4_at_TRIM10_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I030879 30879777 30888989 2.26 [{'connected_gene': 'DDR1', 'score': 559.63}, {'connected_gene': 'VARS2', 'score': 41.56}, {'connected_gene': 'HLA-C', 'score': 13.09}, {'connected_gene': 'PSORS1C1', 'score': 13.09}, {'connected_gene': 'GNL1', 'score': 12.35}, {'connected_gene': 'PSORS1C3', 'score': 11.61}, {'connected_gene': 'SFTA2', 'score': 11.55}, {'connected_gene': 'HCG18', 'score': 11.25}, {'connected_gene': 'IER3', 'score': 11.16}, {'connected_gene': 'FLOT1', 'score': 11.15}, {'connected_gene': 'BAG6', 'score': 11.14}, {'connected_gene': 'DPCR1', 'score': 11.06}, {'connected_gene': 'CCHCR1', 'score': 10.86}, {'connected_gene': 'CSNK2B', 'score': 10.54}, {'connected_gene': 'PRR3', 'score': 10.4}, {'connected_gene': 'DHX16', 'score': 10.01}, {'connected_gene': 'LSM2', 'score': 9.81}, {'connected_gene': 'MICD', 'score': 5.3}, {'connected_gene': 'ENSG00000272501', 'score': 5.13}, {'connected_gene': 'POU5F1', 'score': 3.95}, {'connected_gene': 'TRIM10', 'score': 3.92}, {'connected_gene': 'MIR4640', 'score': 0.44}]
chr6 GH06I030842 30842244 30842433 1.03 [{'connected_gene': 'VARS2', 'score': 47.85}, {'connected_gene': 'TRIM10', 'score': 3.92}, {'connected_gene': 'LINC02570', 'score': 0.44}, {'connected_gene': 'LINC00243', 'score': 0.39}]
chr6 GH06I030839 30839521 30840901 1.09 [{'connected_gene': 'VARS2', 'score': 19.46}, {'connected_gene': 'TRIM10', 'score': 3.92}, {'connected_gene': 'LINC02570', 'score': 0.44}, {'connected_gene': 'LINC00243', 'score': 0.44}]
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 GH06I029963 29963870 29968628 1.82 [{'connected_gene': 'HLA-A', 'score': 40.59}, {'connected_gene': 'HLA-K', 'score': 37.47}, {'connected_gene': 'HCG4P3', 'score': 35.57}, {'connected_gene': 'ZNRD1', 'score': 33.01}, {'connected_gene': 'HLA-W', 'score': 31.1}, {'connected_gene': 'TRIM39', 'score': 27.67}, {'connected_gene': 'HLA-H', 'score': 26.72}, {'connected_gene': 'PPP1R10', 'score': 25.83}, {'connected_gene': 'MDC1', 'score': 23.56}, {'connected_gene': 'DHX16', 'score': 23.05}, {'connected_gene': 'HLA-J', 'score': 22.44}, {'connected_gene': 'PAIP1P1', 'score': 21.39}, {'connected_gene': 'TRIM26', 'score': 21.37}, {'connected_gene': 'HCG4P5', 'score': 20.72}, {'connected_gene': 'MICD', 'score': 20.06}, {'connected_gene': 'GTF2H4', 'score': 18.66}, {'connected_gene': 'HCG4', 'score': 18.57}, {'connected_gene': 'IFITM4P', 'score': 16.93}, {'connected_gene': 'HLA-F', 'score': 16.35}, {'connected_gene': 'TRIM10', 'score': 13.89}, {'connected_gene': 'ZNRD1ASP', 'score': 12.73}, {'connected_gene': 'GNL1', 'score': 12.33}, {'connected_gene': 'ETF1P1', 'score': 11.74}, {'connected_gene': 'ABCF1', 'score': 10.93}, {'connected_gene': 'NRM', 'score': 10.71}, {'connected_gene': 'OR2H2', 'score': 9.68}, {'connected_gene': 'ZFP57', 'score': 9.51}, {'connected_gene': 'TRIM39-RPP21', 'score': 2.87}, {'connected_gene': 'PPP1R11', 'score': 2.71}, {'connected_gene': 'HCG9', 'score': 0.44}]
chr6 GH06I031040 31040964 31041701 0.38 [{'connected_gene': 'HCG22', 'score': 29.09}, {'connected_gene': 'HLA-C', 'score': 17.64}, {'connected_gene': 'DPCR1', 'score': 11.58}, {'connected_gene': 'HCG21', 'score': 11.52}, {'connected_gene': 'TRIM10', 'score': 5.82}, {'connected_gene': 'ENSG00000199332', 'score': 5.74}, {'connected_gene': 'GC06P031986', 'score': 0.44}]
chr6 GH06I031093 31093994 31095361 0.69 [{'connected_gene': 'HCG22', 'score': 31.92}, {'connected_gene': 'PSORS1C1', 'score': 13.36}, {'connected_gene': 'POU5F1', 'score': 6.09}, {'connected_gene': 'TRIM10', 'score': 5.26}, {'connected_gene': 'GC06P031966', 'score': 0.44}, {'connected_gene': 'C6orf15', 'score': 0.37}]
chr6 GH06I031113 31113678 31116136 1.49 [{'connected_gene': 'PSORS1C1', 'score': 604.32}, {'connected_gene': 'HCG22', 'score': 25.69}, {'connected_gene': 'MICB', 'score': 10.95}, {'connected_gene': 'ENSG00000272501', 'score': 10.28}, {'connected_gene': 'POU5F1', 'score': 10.08}, {'connected_gene': 'HLA-C', 'score': 8.58}, {'connected_gene': 'TRIM10', 'score': 5.27}, {'connected_gene': 'TCF19', 'score': 4.68}, {'connected_gene': 'CDSN', 'score': 0.44}]
chr6 GH06I030939 30939855 30941401 1.02 [{'connected_gene': 'DPCR1', 'score': 550.44}, {'connected_gene': 'VARS2', 'score': 9.94}, {'connected_gene': 'MICA-AS1', 'score': 5.48}, {'connected_gene': 'ATP6V1G2', 'score': 5.06}, {'connected_gene': 'TRIM10', 'score': 3.92}, {'connected_gene': 'SFTA2', 'score': 0.37}]
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}]

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