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
ENST00000378609 [[1716728, 1718492], [1718760, 1718876], [1720491, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756938], [1770628, 1770677], [1822258, 1822495]] [[1718769, 1718876], [1720491, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756892]]
ENST00000461893 [[1719425, 1720708], [1721833, 1722035], [1724683, 1725636]] None
ENST00000471354 [[1720499, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749125, 1749825]] None
ENST00000439272 [[1722003, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1756835, 1756938], [1770628, 1770677], [1822258, 1822275]] [[1722003, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1756835, 1756892]]
ENST00000434686 [[1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756938], [1770628, 1770677], [1771067, 1771121], [1821802, 1821840]] [[1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756892]]
ENST00000437146 [[1735964, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756938], [1763670, 1763724]] [[1735964, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756892]]
ENST00000607589 [[1756426, 1756993]] None
ENST00000472614 [[1756426, 1756938], [1770628, 1770677], [1822258, 1822405]] None
NM_002074 [[1716723, 1718492], [1718760, 1718876], [1720491, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756938], [1770628, 1770677], [1822258, 1822556]] [[1718769, 1718876], [1720491, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756892]]
NM_001282538 [[1716723, 1718492], [1718760, 1718876], [1720491, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1756835, 1756938], [1770628, 1770677], [1822258, 1822556]] [[1718769, 1718876], [1720491, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1735987]]
NM_001282539 [[1716723, 1718492], [1718760, 1718876], [1720491, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756938], [1822258, 1822556]] [[1718769, 1718876], [1720491, 1720708], [1721833, 1722035], [1724683, 1724750], [1735857, 1736020], [1737913, 1737977], [1747194, 1747301], [1749275, 1749314], [1756835, 1756892]]
Promoter
Chrom Start End Description
chr1 1721919 1721940 CAGE_peak_14_at_GNB1_5end
chr1 1722017 1722030 CAGE_peak_19_at_GNB1_5end
chr1 1735882 1735902 CAGE_peak_3_at_GNB1_5end
chr1 1749740 1749745 CAGE_peak_10_at_GNB1_5end
chr1 1763721 1763741 CAGE_peak_4_at_GNB1_5end
chr1 1763752 1763766 CAGE_peak_11_at_GNB1_5end
chr1 1822495 1822571 CAGE_peak_1_at_GNB1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I001883 1883012 1883829 1.46 [{'connected_gene': 'CDK11B', 'score': 9.77}, {'connected_gene': 'SKI', 'score': 2.11}, {'connected_gene': 'FAAP20', 'score': 1.42}, {'connected_gene': 'MIB2', 'score': 1.37}, {'connected_gene': 'GC01P001881', 'score': 0.77}, {'connected_gene': 'LOC105378949', 'score': 0.77}, {'connected_gene': 'GNB1', 'score': 0.44}]
chr1 GH01I001862 1862390 1862423 0.53 [{'connected_gene': 'CDK11A', 'score': 1.51}, {'connected_gene': 'CDK11B', 'score': 1.48}, {'connected_gene': 'GC01P001866', 'score': 0.77}, {'connected_gene': 'GC01M001827', 'score': 0.37}, {'connected_gene': 'GNB1', 'score': 0.31}]
chr1 GH01I002239 2239686 2241010 1.38 [{'connected_gene': 'NADK', 'score': 17.2}, {'connected_gene': 'SKI', 'score': 4.07}, {'connected_gene': 'TNFRSF14', 'score': 3.91}, {'connected_gene': 'GNB1', 'score': 2.2}, {'connected_gene': 'PANK4', 'score': 2.0}, {'connected_gene': 'PIR45792', 'score': 0.28}]
chr1 GH01I001775 1775225 1783826 2.53 [{'connected_gene': 'NADK', 'score': 589.25}, {'connected_gene': 'INTS11', 'score': 35.2}, {'connected_gene': 'ENSG00000240731', 'score': 30.62}, {'connected_gene': 'CCNL2', 'score': 30.43}, {'connected_gene': 'CDK11A', 'score': 28.52}, {'connected_gene': 'LOC100288379', 'score': 26.41}, {'connected_gene': 'LOC105378949', 'score': 24.29}, {'connected_gene': 'SDF4', 'score': 24.0}, {'connected_gene': 'ENSG00000230092', 'score': 22.21}, {'connected_gene': 'ATAD3B', 'score': 21.12}, {'connected_gene': 'FAM87B', 'score': 20.99}, {'connected_gene': 'LINC00115', 'score': 18.72}, {'connected_gene': 'TMEM52', 'score': 18.05}, {'connected_gene': 'LOC100129381', 'score': 12.74}, {'connected_gene': 'SLC35E2', 'score': 12.61}, {'connected_gene': 'CALML6', 'score': 11.74}, {'connected_gene': 'FAAP20', 'score': 11.19}, {'connected_gene': 'MXRA8', 'score': 10.71}, {'connected_gene': 'SLC35E2B', 'score': 10.4}, {'connected_gene': 'RER1', 'score': 10.01}, {'connected_gene': 'CDK11B', 'score': 6.36}, {'connected_gene': 'GNB1', 'score': 2.86}, {'connected_gene': 'SKI', 'score': 2.83}, {'connected_gene': 'GC01M001783', 'score': 0.44}, {'connected_gene': 'GC01P001764', 'score': 0.39}, {'connected_gene': 'PIR60981', 'score': 0.39}]
chr1 GH01I001816 1816707 1818280 0.56 [{'connected_gene': 'TMEM52', 'score': 29.31}, {'connected_gene': 'CALML6', 'score': 11.29}, {'connected_gene': 'LOC105378949', 'score': 6.21}, {'connected_gene': 'GC01P001820', 'score': 0.77}, {'connected_gene': 'GC01M001783', 'score': 0.29}, {'connected_gene': 'GNB1', 'score': 0.19}]
chr1 GH01I001825 1825872 1830227 0.72 [{'connected_gene': 'TMEM52', 'score': 18.19}, {'connected_gene': 'CALML6', 'score': 11.95}, {'connected_gene': 'LOC105378949', 'score': 6.89}, {'connected_gene': 'GC01P001820', 'score': 0.44}, {'connected_gene': 'GC01M001827', 'score': 0.39}, {'connected_gene': 'GNB1', 'score': 0.21}]
chr1 GH01I001795 1795437 1798942 0.54 [{'connected_gene': 'TMEM52', 'score': 27.6}, {'connected_gene': 'LOC105378949', 'score': 12.33}, {'connected_gene': 'GNB1', 'score': 12.32}, {'connected_gene': 'CALML6', 'score': 10.92}, {'connected_gene': 'SLC35E2B', 'score': 4.51}, {'connected_gene': 'GC01M001783', 'score': 0.39}, {'connected_gene': 'GC01P001820', 'score': 0.34}]
chr1 GH01I001877 1877419 1879682 0.43 [{'connected_gene': 'TMEM52', 'score': 16.56}, {'connected_gene': 'LOC105378949', 'score': 12.39}, {'connected_gene': 'GC01P001881', 'score': 0.77}, {'connected_gene': 'GNB1', 'score': 0.39}, {'connected_gene': 'GC01P001866', 'score': 0.39}]
chr1 GH01I001888 1888049 1897969 2.45 [{'connected_gene': 'GNB1', 'score': 550.77}, {'connected_gene': 'GC01M001889', 'score': 550.77}, {'connected_gene': 'LOC105378949', 'score': 28.74}, {'connected_gene': 'ATAD3B', 'score': 19.58}, {'connected_gene': 'CCNL2', 'score': 16.43}, {'connected_gene': 'CALML6', 'score': 15.63}, {'connected_gene': 'FAAP20', 'score': 14.33}, {'connected_gene': 'INTS11', 'score': 14.02}, {'connected_gene': 'ENSG00000234396', 'score': 13.97}, {'connected_gene': 'ENSG00000240731', 'score': 13.7}, {'connected_gene': 'TMEM52', 'score': 12.02}, {'connected_gene': 'SLC35E2', 'score': 11.72}, {'connected_gene': 'LOC100129381', 'score': 11.54}, {'connected_gene': 'LOC100288379', 'score': 10.95}, {'connected_gene': 'PUSL1', 'score': 10.06}, {'connected_gene': 'SLC35E2B', 'score': 9.92}, {'connected_gene': 'ENSG00000272455', 'score': 9.69}]
chr1 GH01I001815 1815407 1816557 0.38 [{'connected_gene': 'CALML6', 'score': 11.29}, {'connected_gene': 'TMEM52', 'score': 11.28}, {'connected_gene': 'GC01P001820', 'score': 0.77}, {'connected_gene': 'GC01M001783', 'score': 0.29}, {'connected_gene': 'GNB1', 'score': 0.18}]
chr1 GH01I001813 1813830 1814675 0.2 [{'connected_gene': 'CALML6', 'score': 11.29}, {'connected_gene': 'TMEM52', 'score': 11.28}, {'connected_gene': 'GC01P001820', 'score': 0.44}, {'connected_gene': 'GC01M001783', 'score': 0.31}, {'connected_gene': 'GNB1', 'score': 0.18}]
chr1 GH01I001805 1805687 1807774 0.38 [{'connected_gene': 'CALML6', 'score': 11.62}, {'connected_gene': 'TMEM52', 'score': 11.61}, {'connected_gene': 'LOC105378949', 'score': 9.25}, {'connected_gene': 'GC01P001820', 'score': 0.39}, {'connected_gene': 'GC01M001783', 'score': 0.34}, {'connected_gene': 'GNB1', 'score': 0.18}]
chr1 GH01I001838 1838511 1839676 0.31 [{'connected_gene': 'LOC105378949', 'score': 11.46}, {'connected_gene': 'NADK', 'score': 8.27}, {'connected_gene': 'GC01M001827', 'score': 0.77}, {'connected_gene': 'GC01P001820', 'score': 0.37}, {'connected_gene': 'GNB1', 'score': 0.23}]
chr1 GH01I001845 1845739 1848533 1.19 [{'connected_gene': 'LOC105378949', 'score': 22.04}, {'connected_gene': 'TMEM52', 'score': 15.97}, {'connected_gene': 'GC01M001827', 'score': 0.77}, {'connected_gene': 'GC01P001866', 'score': 0.37}, {'connected_gene': 'GNB1', 'score': 0.26}]
chr1 GH01I001885 1885910 1887600 0.38 [{'connected_gene': 'LOC105378949', 'score': 577.94}, {'connected_gene': 'TMEM52', 'score': 16.04}, {'connected_gene': 'GNB1', 'score': 0.77}]
chr1 GH01I001801 1801244 1802461 0.2 [{'connected_gene': 'LOC105378949', 'score': 25.95}, {'connected_gene': 'GNB1', 'score': 12.33}, {'connected_gene': 'CALML6', 'score': 10.93}, {'connected_gene': 'TMEM52', 'score': 10.92}, {'connected_gene': 'GC01M001783', 'score': 0.37}, {'connected_gene': 'GC01P001820', 'score': 0.37}]
chr1 GH01I001799 1799147 1800878 0.63 [{'connected_gene': 'LOC105378949', 'score': 12.33}, {'connected_gene': 'GNB1', 'score': 12.32}, {'connected_gene': 'CALML6', 'score': 10.93}, {'connected_gene': 'TMEM52', 'score': 10.92}, {'connected_gene': 'GC01M001783', 'score': 0.39}, {'connected_gene': 'GC01P001820', 'score': 0.34}]
chr1 GH01I001802 1802777 1803868 0.2 [{'connected_gene': 'LOC105378949', 'score': 24.13}, {'connected_gene': 'GNB1', 'score': 12.33}, {'connected_gene': 'CALML6', 'score': 10.93}, {'connected_gene': 'TMEM52', 'score': 10.92}, {'connected_gene': 'GC01M001783', 'score': 0.37}, {'connected_gene': 'GC01P001820', 'score': 0.37}]
chr1 GH01I001823 1823154 1825690 0.2 [{'connected_gene': 'LOC105378949', 'score': 11.94}, {'connected_gene': 'GNB1', 'score': 11.93}, {'connected_gene': 'GC01P001820', 'score': 0.77}, {'connected_gene': 'GC01M001827', 'score': 0.37}]
chr1 GH01I001873 1873001 1874286 0.52 [{'connected_gene': 'LOC105378949', 'score': 12.22}, {'connected_gene': 'GC01P001881', 'score': 0.44}, {'connected_gene': 'GC01P001866', 'score': 0.44}, {'connected_gene': 'GNB1', 'score': 0.37}]
chr1 GH01I001832 1832451 1834758 0.95 [{'connected_gene': 'LOC105378949', 'score': 11.49}, {'connected_gene': 'GC01M001827', 'score': 0.44}, {'connected_gene': 'GC01P001820', 'score': 0.39}, {'connected_gene': 'GNB1', 'score': 0.22}]
chr1 GH01I001887 1887601 1887800 0.31 [{'connected_gene': 'LOC105378949', 'score': 550.77}, {'connected_gene': 'GNB1', 'score': 0.77}]
chr1 GH01I001869 1869149 1870690 0.92 [{'connected_gene': 'LOC105378949', 'score': 11.72}, {'connected_gene': 'GC01P001866', 'score': 0.77}, {'connected_gene': 'GC01P001881', 'score': 0.39}, {'connected_gene': 'GNB1', 'score': 0.34}]
chr1 GH01I001793 1793030 1794467 0.46 [{'connected_gene': 'LOC105378949', 'score': 22.15}, {'connected_gene': 'CALML6', 'score': 11.75}, {'connected_gene': 'GC01M001783', 'score': 0.44}, {'connected_gene': 'GC01P001820', 'score': 0.31}, {'connected_gene': 'GNB1', 'score': 0.15}]
chr1 GH01I001857 1857174 1860406 1.41 [{'connected_gene': 'LOC105378949', 'score': 24.29}, {'connected_gene': 'LINC01786', 'score': 11.25}, {'connected_gene': 'ENSG00000272455', 'score': 10.7}, {'connected_gene': 'MORN1', 'score': 10.01}, {'connected_gene': 'ENSG00000240731', 'score': 9.68}, {'connected_gene': 'GC01P001866', 'score': 0.44}, {'connected_gene': 'GC01M001827', 'score': 0.37}, {'connected_gene': 'GNB1', 'score': 0.29}]
chr1 GH01I001842 1842384 1843473 0.8 [{'connected_gene': 'GC01M001827', 'score': 550.77}, {'connected_gene': 'ENSG00000240731', 'score': 23.48}, {'connected_gene': 'CCNL2', 'score': 20.09}, {'connected_gene': 'TMEM52', 'score': 16.49}, {'connected_gene': 'INTS11', 'score': 11.18}, {'connected_gene': 'LOC100129534', 'score': 10.77}, {'connected_gene': 'C1orf159', 'score': 10.49}, {'connected_gene': 'ATAD3B', 'score': 9.93}, {'connected_gene': 'CALML6', 'score': 4.62}, {'connected_gene': 'GC01P001866', 'score': 0.34}, {'connected_gene': 'GNB1', 'score': 0.25}]
chr1 GH01I002245 2245801 2252422 1.54 [{'connected_gene': 'ENSG00000234396', 'score': 16.37}, {'connected_gene': 'MORN1', 'score': 15.01}, {'connected_gene': 'FAAP20', 'score': 14.14}, {'connected_gene': 'ATAD3B', 'score': 12.84}, {'connected_gene': 'LOC100129534', 'score': 11.92}, {'connected_gene': 'INTS11', 'score': 11.91}, {'connected_gene': 'LINC01786', 'score': 11.8}, {'connected_gene': 'ENSG00000240731', 'score': 11.11}, {'connected_gene': 'ENSG00000272455', 'score': 10.92}, {'connected_gene': 'SLC35E2', 'score': 10.84}, {'connected_gene': 'MIB2', 'score': 10.3}, {'connected_gene': 'CCNL2', 'score': 10.03}, {'connected_gene': 'SLC35E2B', 'score': 9.91}, {'connected_gene': 'LOC100129381', 'score': 9.85}, {'connected_gene': 'NADK', 'score': 8.04}, {'connected_gene': 'TNFRSF14', 'score': 7.04}, {'connected_gene': 'PRKCZ-AS1', 'score': 6.46}, {'connected_gene': 'SKI', 'score': 5.52}, {'connected_gene': 'GNB1', 'score': 1.54}, {'connected_gene': 'PIR45792', 'score': 0.31}]
chr1 GH01I001784 1784767 1785401 0.31 [{'connected_gene': 'GC01M001783', 'score': 550.77}, {'connected_gene': 'NADK', 'score': 0.77}, {'connected_gene': 'GNB1', 'score': 0.14}]
chr1 GH01I002150 2150201 2153326 1.23 [{'connected_gene': 'PIR38701', 'score': 550.77}, {'connected_gene': 'NADK', 'score': 30.32}, {'connected_gene': 'FAAP20', 'score': 11.25}, {'connected_gene': 'PRKCZ-AS1', 'score': 8.87}, {'connected_gene': 'ENSG00000271806', 'score': 7.72}, {'connected_gene': 'ENSG00000234396', 'score': 5.88}, {'connected_gene': 'LOC105378589', 'score': 4.56}, {'connected_gene': 'CDK11A', 'score': 4.42}, {'connected_gene': 'CDK11B', 'score': 4.41}, {'connected_gene': 'TNFRSF14', 'score': 3.11}, {'connected_gene': 'GNB1', 'score': 2.27}, {'connected_gene': 'SKI', 'score': 2.17}, {'connected_gene': 'PANK4', 'score': 1.84}, {'connected_gene': 'GC01M002157', 'score': 0.77}, {'connected_gene': 'PRKCZ', 'score': 0.15}]
chr1 GH01I001840 1840050 1842165 1.09 [{'connected_gene': 'GC01M001827', 'score': 550.77}, {'connected_gene': 'TMEM88B', 'score': 9.25}, {'connected_gene': 'LOC105378949', 'score': 5.81}, {'connected_gene': 'ATAD3C', 'score': 4.29}, {'connected_gene': 'PRKCZ', 'score': 1.82}, {'connected_gene': 'CALML6', 'score': 1.51}, {'connected_gene': 'GC01P001820', 'score': 0.34}, {'connected_gene': 'GNB1', 'score': 0.23}]
chr1 GH01I001860 1860801 1861000 0.66 [{'connected_gene': 'GC01P001866', 'score': 0.44}, {'connected_gene': 'GC01M001827', 'score': 0.37}, {'connected_gene': 'GNB1', 'score': 0.29}]
chr1 GH01I001861 1861071 1861462 0.38 [{'connected_gene': 'GC01P001866', 'score': 0.44}, {'connected_gene': 'GC01M001827', 'score': 0.37}, {'connected_gene': 'GNB1', 'score': 0.31}]
chr1 GH01I001852 1852385 1854981 0.46 [{'connected_gene': 'GC01P001866', 'score': 0.39}, {'connected_gene': 'GC01M001827', 'score': 0.39}, {'connected_gene': 'GNB1', 'score': 0.28}]
chr1 GH01I001863 1863001 1863600 0.66 [{'connected_gene': 'GC01P001866', 'score': 0.77}, {'connected_gene': 'GC01M001827', 'score': 0.34}, {'connected_gene': 'GNB1', 'score': 0.31}]
chr1 GH01I001789 1789142 1789291 0.66 [{'connected_gene': 'GC01M001783', 'score': 0.77}, {'connected_gene': 'GC01P001820', 'score': 0.29}, {'connected_gene': 'GNB1', 'score': 0.15}]
chr1 GH01I001872 1872203 1872882 0.31 [{'connected_gene': 'GC01P001881', 'score': 0.44}, {'connected_gene': 'GC01P001866', 'score': 0.44}, {'connected_gene': 'GNB1', 'score': 0.37}]
chr1 GH01I001835 1835622 1835771 0.58 [{'connected_gene': 'GC01M001827', 'score': 0.44}, {'connected_gene': 'GC01P001820', 'score': 0.37}, {'connected_gene': 'GNB1', 'score': 0.22}]
chr1 GH01I001865 1865283 1866265 0.43 [{'connected_gene': 'GC01P001866', 'score': 550.77}, {'connected_gene': 'CALML6', 'score': 12.71}, {'connected_gene': 'GC01M001827', 'score': 0.34}, {'connected_gene': 'GNB1', 'score': 0.31}]
chr1 GH01I001820 1820053 1821897 0.2 [{'connected_gene': 'GC01P001820', 'score': 550.77}, {'connected_gene': 'CALML6', 'score': 14.85}, {'connected_gene': 'LOC105378949', 'score': 4.87}, {'connected_gene': 'GC01M001827', 'score': 0.34}, {'connected_gene': 'GNB1', 'score': 0.19}]
chr1 GH01I001880 1880698 1882667 0.72 [{'connected_gene': 'GC01P001881', 'score': 550.77}, {'connected_gene': 'LOC105378949', 'score': 27.61}, {'connected_gene': 'TMEM52', 'score': 16.78}, {'connected_gene': 'NADK', 'score': 6.76}, {'connected_gene': 'GNB1', 'score': 0.44}]

© 2018 bmi.sjtu.edu.cn. All rights reserved.
浙ICP备18030141号.