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
ENST00000404767 [[1509912, 1510328], [1510481, 1510591], [1510768, 1510860], [1511206, 1511277], [1511908, 1512022], [1512707, 1512820], [1513201, 1513329], [1513803, 1513996], [1514340, 1514474], [1515583, 1515707], [1515864, 1516091], [1516205, 1516293], [1516429, 1516554], [1517185, 1517309], [1517388, 1517572], [1518001, 1518142], [1518361, 1518521], [1519065, 1519320], [1519952, 1520077], [1520470, 1520569], [1520977, 1521124], [1522181, 1522343], [1523377, 1523489], [1523638, 1523806], [1524733, 1524838], [1524925, 1525105], [1526260, 1526410], [1526557, 1526737], [1526955, 1527085], [1527395, 1527593], [1528979, 1529040], [1529226, 1529318], [1532645, 1532742], [1533389, 1533547], [1534451, 1534529], [1535068, 1535189], [1535791, 1535900], [1536773, 1536950], [1538047, 1538189], [1538342, 1538488], [1538610, 1538797], [1538890, 1538996], [1539108, 1539268], [1539519, 1539657], [1539805, 1540002], [1542536, 1542827], [1543538, 1543637], [1543958, 1544003]] [[1510212, 1510328], [1510481, 1510591], [1510768, 1510860], [1511206, 1511277], [1511908, 1512022], [1512707, 1512820], [1513201, 1513329], [1513803, 1513996], [1514340, 1514474], [1515583, 1515707], [1515864, 1516091], [1516205, 1516293], [1516429, 1516554], [1517185, 1517309], [1517388, 1517572], [1518001, 1518142], [1518361, 1518521], [1519065, 1519320], [1519952, 1520077], [1520470, 1520569], [1520977, 1521124], [1522181, 1522343], [1523377, 1523489], [1523638, 1523806], [1524733, 1524838], [1524925, 1525105], [1526260, 1526410], [1526557, 1526737], [1526955, 1527085], [1527395, 1527593], [1528979, 1529040], [1529226, 1529318], [1532645, 1532742], [1533389, 1533547], [1534451, 1534529], [1535068, 1535189], [1535791, 1535900], [1536773, 1536950], [1538047, 1538189], [1538342, 1538488], [1538610, 1538797], [1538890, 1538996], [1539108, 1539268], [1539519, 1539657], [1539805, 1540002], [1542536, 1542827], [1543538, 1543596]]
ENST00000389470 [[1509912, 1510328], [1510481, 1510591], [1510768, 1510860], [1511206, 1511277], [1511908, 1512022], [1512707, 1512820], [1513201, 1513329], [1513803, 1513996], [1514340, 1514474], [1515583, 1515707], [1515864, 1516091], [1516190, 1516293], [1516429, 1516554], [1517185, 1517309], [1517388, 1517572], [1518001, 1518142], [1518361, 1518521], [1519065, 1519320], [1519952, 1520077], [1520470, 1520593], [1520890, 1521124], [1522181, 1522343], [1523377, 1523489], [1523638, 1523806], [1524733, 1524838], [1524925, 1525162], [1526260, 1526410], [1526557, 1526737], [1526955, 1527085], [1527350, 1527593], [1528979, 1529040], [1529226, 1529318], [1532645, 1532742], [1533389, 1533547], [1534451, 1534529], [1535068, 1535189], [1535791, 1535900], [1536773, 1536950], [1538047, 1538189], [1538342, 1538488], [1538610, 1538797], [1538890, 1538996], [1539108, 1539268], [1539519, 1539657], [1539805, 1540002], [1542536, 1542827], [1543538, 1543637], [1543958, 1544243], [1545431, 1545489]] [[1510212, 1510328], [1510481, 1510591], [1510768, 1510860], [1511206, 1511277], [1511908, 1512022], [1512707, 1512820], [1513201, 1513329], [1513803, 1513996], [1514340, 1514474], [1515583, 1515707], [1515864, 1516091], [1516190, 1516293], [1516429, 1516554], [1517185, 1517309], [1517388, 1517572], [1518001, 1518142], [1518361, 1518521], [1519065, 1519320], [1519952, 1520077], [1520470, 1520593], [1520890, 1521124], [1522181, 1522343], [1523377, 1523489], [1523638, 1523806], [1524733, 1524838], [1524925, 1525162], [1526260, 1526410], [1526557, 1526737], [1526955, 1527085], [1527350, 1527593], [1528979, 1529040], [1529226, 1529318], [1532645, 1532742], [1533389, 1533547], [1534451, 1534529], [1535068, 1535189], [1535791, 1535900], [1536773, 1536950], [1538047, 1538189], [1538342, 1538488], [1538610, 1538797], [1538890, 1538996], [1539108, 1539268], [1539519, 1539657], [1539805, 1540002], [1542536, 1542827], [1543538, 1543637], [1543958, 1544243], [1545431, 1545489]]
ENST00000493446 [[1510113, 1510347], [1510481, 1510591], [1510768, 1510860], [1511206, 1511277], [1511908, 1512022], [1512707, 1512761]] None
ENST00000483196 [[1510768, 1510860], [1511206, 1511277], [1511878, 1512022], [1512707, 1512786]] [[1510768, 1510860], [1511206, 1511277], [1511878, 1512022], [1512707, 1512786]]
ENST00000479671 [[1510806, 1510860], [1511206, 1511397]] None
ENST00000482994 [[1513835, 1513996], [1514340, 1514474], [1515583, 1515786]] None
ENST00000468115 [[1521913, 1523489], [1523638, 1523806], [1524733, 1524838], [1524925, 1525105], [1526260, 1526410], [1526557, 1526737], [1526955, 1527085], [1527395, 1527593], [1528979, 1529040], [1529226, 1529318], [1532645, 1532742], [1533389, 1533503]] None
ENST00000496988 [[1534091, 1534256], [1534451, 1534529], [1535068, 1535189], [1535791, 1535848]] None
ENST00000493531 [[1539163, 1539268], [1539519, 1539657], [1539805, 1540002], [1540527, 1540915]] None
NM_001080453 [[1509912, 1510328], [1510481, 1510591], [1510768, 1510860], [1511206, 1511277], [1511908, 1512022], [1512707, 1512820], [1513201, 1513329], [1513803, 1513996], [1514340, 1514474], [1515583, 1515707], [1515864, 1516091], [1516205, 1516293], [1516429, 1516554], [1517185, 1517309], [1517388, 1517572], [1518001, 1518142], [1518361, 1518521], [1519065, 1519320], [1519952, 1520077], [1520470, 1520569], [1520977, 1521124], [1522181, 1522343], [1523377, 1523489], [1523638, 1523806], [1524733, 1524838], [1524925, 1525105], [1526260, 1526410], [1526557, 1526737], [1526955, 1527085], [1527395, 1527593], [1528979, 1529040], [1529226, 1529318], [1532645, 1532742], [1533389, 1533547], [1534451, 1534529], [1535068, 1535189], [1535791, 1535900], [1536773, 1536950], [1538047, 1538189], [1538342, 1538488], [1538610, 1538797], [1538890, 1538996], [1539108, 1539268], [1539519, 1539657], [1539805, 1540002], [1542536, 1542827], [1543538, 1543637], [1543958, 1544018]] [[1510212, 1510328], [1510481, 1510591], [1510768, 1510860], [1511206, 1511277], [1511908, 1512022], [1512707, 1512820], [1513201, 1513329], [1513803, 1513996], [1514340, 1514474], [1515583, 1515707], [1515864, 1516091], [1516205, 1516293], [1516429, 1516554], [1517185, 1517309], [1517388, 1517572], [1518001, 1518142], [1518361, 1518521], [1519065, 1519320], [1519952, 1520077], [1520470, 1520569], [1520977, 1521124], [1522181, 1522343], [1523377, 1523489], [1523638, 1523806], [1524733, 1524838], [1524925, 1525105], [1526260, 1526410], [1526557, 1526737], [1526955, 1527085], [1527395, 1527593], [1528979, 1529040], [1529226, 1529318], [1532645, 1532742], [1533389, 1533547], [1534451, 1534529], [1535068, 1535189], [1535791, 1535900], [1536773, 1536950], [1538047, 1538189], [1538342, 1538488], [1538610, 1538797], [1538890, 1538996], [1539108, 1539268], [1539519, 1539657], [1539805, 1540002], [1542536, 1542827], [1543538, 1543596]]
Promoter
Chrom Start End Description
chr7 1543950 1543968 CAGE_peak_2_at_INTS1_5end
chr7 1543981 1544033 CAGE_peak_1_at_INTS1_5end
chr7 1544040 1544051 CAGE_peak_3_at_INTS1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I001136 1136805 1139292 2.01 [{'connected_gene': 'C7orf50', 'score': 550.77}, {'connected_gene': 'LOC101927021', 'score': 70.61}, {'connected_gene': 'ZFAND2A', 'score': 28.94}, {'connected_gene': 'DNAAF5', 'score': 24.89}, {'connected_gene': 'SUN1', 'score': 19.25}, {'connected_gene': 'ENSG00000225981', 'score': 14.98}, {'connected_gene': 'INTS1', 'score': 13.85}, {'connected_gene': 'ENSG00000242474', 'score': 10.09}, {'connected_gene': 'PIR54083', 'score': 0.44}]
chr7 GH07I001456 1456872 1464041 2.57 [{'connected_gene': 'MICALL2', 'score': 550.77}, {'connected_gene': 'ENSG00000225981', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 44.63}, {'connected_gene': 'DNAAF5', 'score': 30.01}, {'connected_gene': 'SUN1', 'score': 21.68}, {'connected_gene': 'CHST12', 'score': 19.59}, {'connected_gene': 'EIF3B', 'score': 12.07}, {'connected_gene': 'MRM2', 'score': 10.68}, {'connected_gene': 'MAFK', 'score': 5.19}, {'connected_gene': 'ENSG00000273230', 'score': 0.44}]
chr7 GH07I001473 1473705 1475054 1.15 [{'connected_gene': 'MICALL2', 'score': 5.29}, {'connected_gene': 'ENSG00000273230', 'score': 0.44}, {'connected_gene': 'GC07M001472', 'score': 0.44}, {'connected_gene': 'INTS1', 'score': 0.29}]
chr7 GH07I001475 1475449 1476127 0.31 [{'connected_gene': 'MICALL2', 'score': 6.72}, {'connected_gene': 'ENSG00000273230', 'score': 0.44}, {'connected_gene': 'GC07M001472', 'score': 0.44}, {'connected_gene': 'INTS1', 'score': 0.31}]
chr7 GH07I001575 1575717 1577709 0.92 [{'connected_gene': 'MAFK', 'score': 13.19}, {'connected_gene': 'BRAT1', 'score': 12.53}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'ENSG00000231927', 'score': 11.0}, {'connected_gene': 'INTS1', 'score': 10.98}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'PSMG3-AS1', 'score': 8.97}, {'connected_gene': 'ELFN1', 'score': 4.35}, {'connected_gene': 'PSMG3', 'score': 0.44}, {'connected_gene': 'GC07P001567', 'score': 0.44}, {'connected_gene': 'LOC105375122', 'score': 0.37}]
chr7 GH07I001529 1529572 1540052 2.61 [{'connected_gene': 'MAFK', 'score': 563.5}, {'connected_gene': 'LOC100128653', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 18.63}, {'connected_gene': 'TMEM184A', 'score': 16.66}, {'connected_gene': 'DNAAF5', 'score': 12.18}, {'connected_gene': 'SUN1', 'score': 11.92}, {'connected_gene': 'EIF3B', 'score': 10.45}, {'connected_gene': 'ZFAND2A', 'score': 7.06}, {'connected_gene': 'PSMG3-AS1', 'score': 6.2}]
chr7 GH07I000871 871995 879685 2.54 [{'connected_gene': 'GET4', 'score': 550.77}, {'connected_gene': 'DNAAF5', 'score': 96.81}, {'connected_gene': 'SUN1', 'score': 86.41}, {'connected_gene': 'ENSG00000273230', 'score': 29.66}, {'connected_gene': 'INTS1', 'score': 25.05}, {'connected_gene': 'PSMG3-AS1', 'score': 22.7}, {'connected_gene': 'ENSG00000242474', 'score': 19.0}, {'connected_gene': 'ENSG00000225981', 'score': 14.96}, {'connected_gene': 'PRKAR1B', 'score': 14.53}, {'connected_gene': 'LOC101927021', 'score': 11.31}, {'connected_gene': 'CYP2W1', 'score': 10.84}, {'connected_gene': 'ENSG00000273151', 'score': 10.2}, {'connected_gene': 'PDGFA', 'score': 10.01}, {'connected_gene': 'PIR61037', 'score': 0.39}]
chr7 GH07I001453 1453934 1456433 1.2 [{'connected_gene': 'INTS1', 'score': 31.88}, {'connected_gene': 'ENSG00000225981', 'score': 15.7}, {'connected_gene': 'EIF3B', 'score': 10.44}, {'connected_gene': 'MICALL2', 'score': 0.77}, {'connected_gene': 'ENSG00000233082', 'score': 0.09}]
chr7 GH07I001377 1377178 1377521 0.53 [{'connected_gene': 'INTS1', 'score': 5.35}, {'connected_gene': 'MICALL2', 'score': 0.18}, {'connected_gene': 'ENSG00000233082', 'score': 0.14}]
chr7 GH07I001522 1522892 1525109 0.63 [{'connected_gene': 'INTS1', 'score': 18.5}, {'connected_gene': 'MAFK', 'score': 0.44}, {'connected_gene': 'ENSG00000231927', 'score': 0.39}]
chr7 GH07I001525 1525877 1527000 0.98 [{'connected_gene': 'INTS1', 'score': 16.47}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'MAFK', 'score': 0.77}, {'connected_gene': 'ENSG00000231927', 'score': 0.37}]
chr7 GH07I001502 1502505 1508977 2.58 [{'connected_gene': 'INTS1', 'score': 588.59}, {'connected_gene': 'DNAAF5', 'score': 11.6}, {'connected_gene': 'EIF3B', 'score': 10.93}, {'connected_gene': 'SUN1', 'score': 9.93}, {'connected_gene': 'ENSG00000231927', 'score': 0.77}]
chr7 GH07I001519 1519719 1522164 1.68 [{'connected_gene': 'INTS1', 'score': 19.16}, {'connected_gene': 'TMEM184A', 'score': 3.1}, {'connected_gene': 'MAFK', 'score': 2.31}, {'connected_gene': 'PSMG3', 'score': 2.25}, {'connected_gene': 'C7orf50', 'score': 1.38}, {'connected_gene': 'ENSG00000231927', 'score': 0.39}]
chr7 GH07I001512 1512202 1518419 1.65 [{'connected_gene': 'INTS1', 'score': 23.41}, {'connected_gene': 'TMEM184A', 'score': 16.8}, {'connected_gene': 'MAFK', 'score': 6.9}, {'connected_gene': 'MICALL2', 'score': 5.2}, {'connected_gene': 'ZFAND2A', 'score': 2.92}, {'connected_gene': 'ENSG00000231927', 'score': 0.44}]
chr7 GH07I001543 1543805 1547821 0.59 [{'connected_gene': 'INTS1', 'score': 17.61}, {'connected_gene': 'TMEM184A', 'score': 16.42}, {'connected_gene': 'PIR48186', 'score': 0.77}]
chr7 GH07I001289 1289271 1291691 1.04 [{'connected_gene': 'INTS1', 'score': 4.75}, {'connected_gene': 'PSMG3-AS1', 'score': 4.47}, {'connected_gene': 'ENSG00000233082', 'score': 0.34}, {'connected_gene': 'MICALL2', 'score': 0.1}]
chr7 GH07I000812 811681 818613 2.23 [{'connected_gene': 'SUN1', 'score': 558.29}, {'connected_gene': 'PRKAR1B', 'score': 17.28}, {'connected_gene': 'ENSG00000225981', 'score': 14.96}, {'connected_gene': 'INTS1', 'score': 13.82}, {'connected_gene': 'ENSG00000242474', 'score': 10.09}, {'connected_gene': 'DNAAF5', 'score': 8.88}, {'connected_gene': 'ENSG00000273151', 'score': 6.91}, {'connected_gene': 'ZFAND2A', 'score': 4.41}, {'connected_gene': 'GC07P000799', 'score': 0.37}]
chr7 GH07I001553 1553774 1561271 1.92 [{'connected_gene': 'TMEM184A', 'score': 564.19}, {'connected_gene': 'INTS1', 'score': 11.78}, {'connected_gene': 'PSMG3-AS1', 'score': 7.7}, {'connected_gene': 'MICALL2', 'score': 4.51}, {'connected_gene': 'PIR48186', 'score': 0.37}]
chr7 GH07I001157 1157944 1161597 2.23 [{'connected_gene': 'LOC101927021', 'score': 657.71}, {'connected_gene': 'ZFAND2A', 'score': 555.68}, {'connected_gene': 'GC07P001161', 'score': 550.77}, {'connected_gene': 'LOC105375120', 'score': 30.17}, {'connected_gene': 'ENSG00000225981', 'score': 14.99}, {'connected_gene': 'INTS1', 'score': 13.84}, {'connected_gene': 'TFAMP1', 'score': 4.84}, {'connected_gene': 'C7orf50', 'score': 0.34}]
chr7 GH07I001540 1540666 1542184 0.38 [{'connected_gene': 'PIR48186', 'score': 550.77}, {'connected_gene': 'PIR32494', 'score': 550.77}, {'connected_gene': 'GC07P001540', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 17.86}, {'connected_gene': 'MICALL2', 'score': 7.13}, {'connected_gene': 'MAFK', 'score': 0.39}, {'connected_gene': 'TMEM184A', 'score': 0.37}]
chr7 GH07I001510 1510241 1511994 1.14 [{'connected_gene': 'ENSG00000231927', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 22.19}, {'connected_gene': 'TMEM184A', 'score': 12.17}, {'connected_gene': 'MRM2', 'score': 4.87}, {'connected_gene': 'MAFK', 'score': 0.37}]
chr7 GH07I001542 1542290 1543708 0.52 [{'connected_gene': 'PIR48186', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 16.6}, {'connected_gene': 'PSMG3-AS1', 'score': 6.29}, {'connected_gene': 'MAFK', 'score': 0.39}, {'connected_gene': 'TMEM184A', 'score': 0.37}]
chr7 GH07I001465 1465895 1467692 1.23 [{'connected_gene': 'ENSG00000273230', 'score': 550.77}, {'connected_gene': 'INTS1', 'score': 36.31}, {'connected_gene': 'ENSG00000225981', 'score': 0.44}]

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