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
ENST00000311604 [[1874199, 1874427], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1874374, 1874427], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
ENST00000421485 [[1884475, 1884844], [1901316, 1901454], [1902661, 1902826], [1904648, 1904658]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904658]]
ENST00000446808 [[1885401, 1885464], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905227]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905227]]
ENST00000381775 [[1886394, 1886492], [1887694, 1888141], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1887704, 1888141], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
ENST00000405957 [[1889902, 1890216], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
ENST00000451814 [[1890373, 1890463], [1901316, 1901454], [1902661, 1902826], [1904648, 1904672]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904672]]
ENST00000457279 [[1890871, 1890959], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096]] [[1890933, 1890959], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096]]
ENST00000429923 [[1891379, 1891438], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905239]] [[1891436, 1891438], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905239]]
ENST00000418975 [[1891473, 1891795], [1901316, 1901454], [1902661, 1902782]] [[1891688, 1891795], [1901316, 1901454], [1902661, 1902782]]
ENST00000406638 [[1891473, 1892642], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
ENST00000417766 [[1892115, 1892203], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096]]
ENST00000472974 [[1892581, 1892642], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806]] None
ENST00000432093 [[1897706, 1897875], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096]]
ENST00000485341 [[1901906, 1902593], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913497]] None
ENST00000484895 [[1905617, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908732]] None
ENST00000464670 [[1907961, 1908096], [1908466, 1908575]] None
NM_002339 [[1874199, 1874427], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1874374, 1874427], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
NM_001242932 [[1886394, 1886492], [1887694, 1888141], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1887704, 1888141], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
NM_001013253 [[1889902, 1890216], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
NM_001289005 [[1891481, 1891891], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
NM_001013254 [[1892098, 1892642], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
NM_001013255 [[1892153, 1892203], [1901316, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908806], [1913002, 1913493]] [[1901449, 1901454], [1902661, 1902826], [1904648, 1904790], [1905161, 1905254], [1905509, 1905553], [1905729, 1905811], [1907961, 1908096], [1908466, 1908544], [1908703, 1908793]]
Promoter
Chrom Start End Description
chr11 1874279 1874340 CAGE_peak_1_at_LSP1_5end
chr11 1874342 1874372 CAGE_peak_2_at_LSP1_5end
chr11 1889880 1889892 CAGE_peak_14_at_LSP1_5end
chr11 1889921 1889954 CAGE_peak_4_at_LSP1_5end
chr11 1890037 1890053 CAGE_peak_6_at_LSP1_5end
chr11 1890056 1890067 CAGE_peak_12_at_LSP1_5end
chr11 1891472 1891476 CAGE_peak_48_at_LSP1_5end
chr11 1891482 1891489 CAGE_peak_42_at_LSP1_5end
chr11 1892063 1892081 CAGE_peak_11_at_LSP1_5end
chr11 1892102 1892126 CAGE_peak_10_at_LSP1_5end
chr11 1892132 1892145 CAGE_peak_22_at_LSP1_5end
chr11 1892551 1892608 CAGE_peak_3_at_LSP1_5end
chr11 1897697 1897721 CAGE_peak_7_at_LSP1_5end
chr11 1897722 1897737 CAGE_peak_18_at_LSP1_5end
chr11 1905203 1905219 CAGE_peak_5_at_LSP1_5end
chr11 1905512 1905526 CAGE_peak_8_at_LSP1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I001915 1915425 1915812 0.47 [{'connected_gene': 'TNNI2', 'score': 6.61}, {'connected_gene': 'LSP1', 'score': 6.61}, {'connected_gene': 'C11orf21', 'score': 3.38}, {'connected_gene': 'TSPAN32', 'score': 2.0}, {'connected_gene': 'TSSC4', 'score': 1.38}, {'connected_gene': 'TNNT3', 'score': 0.77}, {'connected_gene': 'LINC01150', 'score': 0.37}]
chr11 GH11I001837 1837097 1846599 2.24 [{'connected_gene': 'TNNI2', 'score': 567.4}, {'connected_gene': 'IFITM10', 'score': 10.37}, {'connected_gene': 'LSP1', 'score': 10.25}, {'connected_gene': 'LINC01219', 'score': 4.47}, {'connected_gene': 'C11orf21', 'score': 1.79}, {'connected_gene': 'SYT8', 'score': 0.39}, {'connected_gene': 'GC11P001831', 'score': 0.39}]
chr11 GH11I001770 1770041 1773855 1.65 [{'connected_gene': 'SNORA52', 'score': 26.44}, {'connected_gene': 'TSPAN4', 'score': 25.02}, {'connected_gene': 'PIDD1', 'score': 22.73}, {'connected_gene': 'IFITM10', 'score': 17.91}, {'connected_gene': 'TNNI2', 'score': 17.45}, {'connected_gene': 'ENSG00000255142', 'score': 12.46}, {'connected_gene': 'SYT8', 'score': 11.4}, {'connected_gene': 'KRTAP5-6', 'score': 11.06}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'FAM99B', 'score': 11.03}, {'connected_gene': 'RPLP2', 'score': 10.43}, {'connected_gene': 'TSSC4', 'score': 10.31}, {'connected_gene': 'RPL26P30', 'score': 10.1}, {'connected_gene': 'LSP1', 'score': 9.87}, {'connected_gene': 'ENSG00000235027', 'score': 7.01}, {'connected_gene': 'TOLLIP', 'score': 2.08}, {'connected_gene': 'CTSD', 'score': 1.83}, {'connected_gene': 'MOB2', 'score': 1.45}, {'connected_gene': 'LOC105376517', 'score': 0.44}]
chr11 GH11I001669 1669581 1671105 0.56 [{'connected_gene': 'KRTAP5-5', 'score': 11.64}, {'connected_gene': 'LSP1', 'score': 11.03}, {'connected_gene': 'IFITM10', 'score': 10.63}, {'connected_gene': 'FAM99A', 'score': 7.12}, {'connected_gene': 'GC11M001664', 'score': 0.77}, {'connected_gene': 'GC11P001673', 'score': 0.77}]
chr11 GH11I001871 1870401 1872681 1.36 [{'connected_gene': 'LSP1', 'score': 556.04}, {'connected_gene': 'TNNT3', 'score': 12.54}, {'connected_gene': 'TNNI2', 'score': 11.72}, {'connected_gene': 'SYT8', 'score': 11.69}, {'connected_gene': 'GC11P001865', 'score': 0.44}, {'connected_gene': 'MIR7847', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.26}]
chr11 GH11I001937 1937681 1940276 0.96 [{'connected_gene': 'LSP1', 'score': 12.66}, {'connected_gene': 'TNNT3', 'score': 6.57}, {'connected_gene': 'MRPL23', 'score': 0.44}]
chr11 GH11I001872 1872811 1873948 0.74 [{'connected_gene': 'LSP1', 'score': 6.07}, {'connected_gene': 'TNNT3', 'score': 4.98}, {'connected_gene': 'GC11P001865', 'score': 0.44}, {'connected_gene': 'MIR7847', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.26}]
chr11 GH11I001780 1780590 1783999 1.55 [{'connected_gene': 'LSP1', 'score': 13.79}, {'connected_gene': 'TNNI2', 'score': 10.2}, {'connected_gene': 'ENSG00000250397', 'score': 5.31}, {'connected_gene': 'SYT8', 'score': 5.12}, {'connected_gene': 'TOLLIP', 'score': 1.84}, {'connected_gene': 'LOC105376517', 'score': 0.77}, {'connected_gene': 'RPL36AP39', 'score': 0.39}]
chr11 GH11I001848 1848202 1849030 0.94 [{'connected_gene': 'LSP1', 'score': 0.77}, {'connected_gene': 'TNNI2', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.37}]
chr11 GH11I001849 1849656 1855952 2.35 [{'connected_gene': 'LSP1', 'score': 566.13}, {'connected_gene': 'KCNQ1OT1', 'score': 9.68}, {'connected_gene': 'TNNI2', 'score': 8.56}, {'connected_gene': 'TNNT3', 'score': 5.32}, {'connected_gene': 'H19', 'score': 5.27}, {'connected_gene': 'C11orf21', 'score': 2.92}, {'connected_gene': 'TSPAN32', 'score': 1.84}, {'connected_gene': 'IGF2', 'score': 1.36}, {'connected_gene': 'GC11P001831', 'score': 0.34}]
chr11 GH11I001873 1870207 1870266 0.81 [{'connected_gene': 'LSP1', 'score': 550.37}, {'connected_gene': 'GC11P001865', 'score': 0.77}, {'connected_gene': 'MIR7847', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.28}]
chr11 GH11I001868 1868201 1869400 1.08 [{'connected_gene': 'LSP1', 'score': 550.37}, {'connected_gene': 'GC11P001865', 'score': 0.77}, {'connected_gene': 'MIR7847', 'score': 0.39}, {'connected_gene': 'GC11P001831', 'score': 0.28}]
chr11 GH11I001870 1870104 1870163 0.88 [{'connected_gene': 'LSP1', 'score': 550.37}, {'connected_gene': 'GC11P001865', 'score': 0.77}, {'connected_gene': 'MIR7847', 'score': 0.44}, {'connected_gene': 'GC11P001831', 'score': 0.28}]
chr11 GH11I001856 1856801 1857000 0.2 [{'connected_gene': 'LSP1', 'score': 0.77}, {'connected_gene': 'MIR4298', 'score': 0.77}, {'connected_gene': 'GC11P001831', 'score': 0.31}]
chr11 GH11I002139 2139618 2152660 2.02 [{'connected_gene': 'IGF2', 'score': 556.82}, {'connected_gene': 'TSSC4', 'score': 13.29}, {'connected_gene': 'ENSG00000199550', 'score': 10.95}, {'connected_gene': 'CD81', 'score': 10.95}, {'connected_gene': 'LSP1', 'score': 10.84}, {'connected_gene': 'LOC100505570', 'score': 10.59}, {'connected_gene': 'KRTAP5-6', 'score': 10.59}, {'connected_gene': 'FAM99B', 'score': 10.59}, {'connected_gene': 'KRTAP5-5', 'score': 9.81}, {'connected_gene': 'TH', 'score': 6.71}, {'connected_gene': 'TNNT3', 'score': 6.48}, {'connected_gene': 'DUSP8', 'score': 5.39}, {'connected_gene': 'ENSG00000236710', 'score': 4.74}, {'connected_gene': 'IGF2-AS', 'score': 0.44}, {'connected_gene': 'GC11M002158', 'score': 0.44}, {'connected_gene': 'GC11M002156', 'score': 0.44}, {'connected_gene': 'INS-IGF2', 'score': 0.37}]
chr11 GH11I002265 2265137 2266656 1.05 [{'connected_gene': 'C11orf21', 'score': 6.46}, {'connected_gene': 'LSP1', 'score': 3.78}, {'connected_gene': 'ASCL2', 'score': 0.44}, {'connected_gene': 'GC11M002224', 'score': 0.26}]
chr11 GH11I001850 1849053 1849283 0.5 [{'connected_gene': 'CTSD', 'score': 2.02}, {'connected_gene': 'MOB2', 'score': 1.9}, {'connected_gene': 'LSP1', 'score': 0.77}, {'connected_gene': 'TNNI2', 'score': 0.39}, {'connected_gene': 'GC11P001831', 'score': 0.37}]
chr11 GH11I001874 1874367 1883425 1.7 [{'connected_gene': 'MIR7847', 'score': 550.77}, {'connected_gene': 'TNNT3', 'score': 9.97}, {'connected_gene': 'CTSD', 'score': 5.58}, {'connected_gene': 'GC11P001865', 'score': 0.39}, {'connected_gene': 'LSP1', 'score': 0.31}, {'connected_gene': 'GC11P001831', 'score': 0.25}]
chr11 GH11I001977 1977304 1984759 1.22 [{'connected_gene': 'MRPL23-AS1', 'score': 16.55}, {'connected_gene': 'LSP1', 'score': 12.11}, {'connected_gene': 'KRTAP5-6', 'score': 11.05}, {'connected_gene': 'FAM99B', 'score': 11.04}, {'connected_gene': 'LOC100505570', 'score': 11.04}, {'connected_gene': 'GC11P001973', 'score': 0.44}, {'connected_gene': 'GC11P001986', 'score': 0.44}, {'connected_gene': 'MRPL23', 'score': 0.29}]
chr11 GH11I001887 1887750 1892365 0.89 [{'connected_gene': 'ENSG00000283787', 'score': 550.77}, {'connected_gene': 'TNNT3', 'score': 12.07}, {'connected_gene': 'TOLLIP-AS1', 'score': 4.59}, {'connected_gene': 'MIR7847', 'score': 0.39}, {'connected_gene': 'LSP1', 'score': 0.28}, {'connected_gene': 'GC11P001831', 'score': 0.22}]
chr11 GH11I001671 1671884 1677852 1.36 [{'connected_gene': 'GC11M001664', 'score': 550.77}, {'connected_gene': 'GC11P001673', 'score': 550.77}, {'connected_gene': 'KRTAP5-5', 'score': 11.63}, {'connected_gene': 'LSP1', 'score': 11.04}, {'connected_gene': 'IFITM10', 'score': 10.64}, {'connected_gene': 'FAM99B', 'score': 6.02}, {'connected_gene': 'LOC100505570', 'score': 5.91}, {'connected_gene': 'ASCL2', 'score': 4.51}, {'connected_gene': 'KRTAP5-6', 'score': 2.98}]
chr11 GH11I001862 1862670 1865225 1.67 [{'connected_gene': 'GC11P001865', 'score': 550.77}, {'connected_gene': 'ENSG00000249086', 'score': 550.77}, {'connected_gene': 'LSP1', 'score': 550.39}, {'connected_gene': 'TNNT3', 'score': 10.02}, {'connected_gene': 'MIR4298', 'score': 0.77}, {'connected_gene': 'GC11P001831', 'score': 0.29}]
chr11 GH11I001869 1869571 1869660 0.51 [{'connected_gene': 'GC11P001865', 'score': 0.77}, {'connected_gene': 'MIR7847', 'score': 0.39}, {'connected_gene': 'LSP1', 'score': 0.37}, {'connected_gene': 'GC11P001831', 'score': 0.28}]
chr11 GH11I001866 1866777 1867273 0.31 [{'connected_gene': 'GC11P001865', 'score': 550.77}, {'connected_gene': 'MIR7847', 'score': 0.39}, {'connected_gene': 'LSP1', 'score': 0.39}, {'connected_gene': 'GC11P001831', 'score': 0.28}]

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