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
ENST00000376637 [[11796140, 11796292], [11807496, 11807602], [11808471, 11808646], [11810133, 11810767]] [[11796265, 11796292], [11807496, 11807602], [11808471, 11808646], [11810133, 11810161]]
ENST00000476512 [[11796173, 11796292], [11805859, 11805894], [11806044, 11806280], [11807496, 11807602], [11808471, 11808667], [11810133, 11810383]] [[11796265, 11796292], [11805859, 11805894], [11806044, 11806174]]
ENST00000400895 [[11796180, 11796292], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808667], [11810133, 11810373]] [[11796265, 11796292], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808650]]
ENST00000494437 [[11796186, 11796292], [11805859, 11806729]] None
ENST00000491346 [[11796198, 11796292], [11805859, 11805894], [11805986, 11806280], [11807496, 11807602], [11808471, 11808646], [11810133, 11810545]] None
ENST00000376629 [[11796203, 11796292], [11805859, 11805894], [11807496, 11807602], [11808471, 11808646], [11810133, 11810826]] [[11796265, 11796292], [11805859, 11805894], [11807496, 11807602], [11808471, 11808646], [11810133, 11810249]]
ENST00000376627 [[11796209, 11796292], [11804589, 11804625], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808667], [11810133, 11810635]] [[11796265, 11796292], [11804589, 11804625], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808650]]
ENST00000314340 [[11796211, 11796292], [11805859, 11805894], [11807496, 11807602], [11808471, 11808667], [11810133, 11810822]] [[11796265, 11796292], [11805859, 11805894], [11807496, 11807602], [11808471, 11808667], [11810133, 11810249]]
ENST00000452018 [[11796229, 11796292], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808646], [11810133, 11810466]] [[11796265, 11796292], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808646], [11810133, 11810161]]
ENST00000510878 [[11796231, 11796292], [11805859, 11805894], [11808471, 11808667], [11810133, 11810690]] [[11796265, 11796292], [11805859, 11805894], [11808471, 11808667], [11810133, 11810343]]
ENST00000476309 [[11805857, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808646], [11810133, 11810466]] None
ENST00000514733 [[11806054, 11806280], [11807496, 11807602], [11808471, 11808646], [11810133, 11810545]] None
ENST00000513739 [[11806065, 11806280], [11807496, 11807602], [11808471, 11808667], [11810133, 11810182]] None
ENST00000471765 [[11807568, 11807602], [11808471, 11808667], [11810133, 11810242], [11814481, 11814859]] None
NM_001040195 [[11796141, 11796292], [11807496, 11807602], [11808471, 11808646], [11810133, 11810828]] [[11796265, 11796292], [11807496, 11807602], [11808471, 11808646], [11810133, 11810161]]
NM_001040194 [[11796141, 11796292], [11805859, 11805894], [11807496, 11807602], [11808471, 11808646], [11810133, 11810828]] [[11796265, 11796292], [11805859, 11805894], [11807496, 11807602], [11808471, 11808646], [11810133, 11810249]]
NM_020350 [[11796141, 11796292], [11805859, 11805894], [11807496, 11807602], [11808471, 11808667], [11810133, 11810828]] [[11796265, 11796292], [11805859, 11805894], [11807496, 11807602], [11808471, 11808667], [11810133, 11810249]]
NM_001040196 [[11796141, 11796292], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808646], [11810133, 11810828]] [[11796265, 11796292], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808646], [11810133, 11810161]]
NM_001040197 [[11796141, 11796292], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808667], [11810133, 11810828]] [[11796265, 11796292], [11805859, 11805894], [11806183, 11806280], [11807496, 11807602], [11808471, 11808650]]
Promoter
Chrom Start End Description
chr1 11796126 11796137 CAGE_peak_3_at_AGTRAP_5end
chr1 11796146 11796160 CAGE_peak_2_at_AGTRAP_5end
chr1 11796177 11796241 CAGE_peak_1_at_AGTRAP_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I011978 11978437 11987026 2.78 [{'connected_gene': 'MFN2', 'score': 620.69}, {'connected_gene': 'ENSG00000226849', 'score': 21.95}, {'connected_gene': 'EXOSC10', 'score': 18.43}, {'connected_gene': 'MIIP', 'score': 18.04}, {'connected_gene': 'TNFRSF1B', 'score': 16.91}, {'connected_gene': 'PLOD1', 'score': 16.62}, {'connected_gene': 'CLCN6', 'score': 15.24}, {'connected_gene': 'TARDBP', 'score': 13.01}, {'connected_gene': 'KIAA2013', 'score': 11.56}, {'connected_gene': 'RNU5E-4P', 'score': 11.25}, {'connected_gene': 'RNU5E-1', 'score': 11.25}, {'connected_gene': 'NPPB', 'score': 10.29}, {'connected_gene': 'MTHFR', 'score': 7.41}, {'connected_gene': 'TNFRSF8', 'score': 6.4}, {'connected_gene': 'AGTRAP', 'score': 5.2}, {'connected_gene': 'FBXO6', 'score': 3.22}, {'connected_gene': 'ENSG00000270914', 'score': 0.29}]
chr1 GH01I012131 12131152 12134162 1.57 [{'connected_gene': 'TNFRSF1B', 'score': 11.05}, {'connected_gene': 'TNFRSF8', 'score': 6.69}, {'connected_gene': 'AGTRAP', 'score': 3.74}, {'connected_gene': 'MTHFR', 'score': 3.24}, {'connected_gene': 'CLCN6', 'score': 2.09}, {'connected_gene': 'MIR7846', 'score': 0.29}, {'connected_gene': 'RPL23AP89', 'score': 0.23}]
chr1 GH01I012182 12182402 12187822 1.51 [{'connected_gene': 'TNFRSF1B', 'score': 14.39}, {'connected_gene': 'VPS13D', 'score': 12.68}, {'connected_gene': 'TNFRSF8', 'score': 8.6}, {'connected_gene': 'AGTRAP', 'score': 6.41}, {'connected_gene': 'MTHFR', 'score': 5.95}, {'connected_gene': 'CLCN6', 'score': 3.18}, {'connected_gene': 'MIR4632', 'score': 0.44}]
chr1 GH01I012156 12156985 12164264 1.79 [{'connected_gene': 'TNFRSF1B', 'score': 35.67}, {'connected_gene': 'MTHFR', 'score': 10.03}, {'connected_gene': 'TNFRSF8', 'score': 8.29}, {'connected_gene': 'CLCN6', 'score': 7.03}, {'connected_gene': 'AGTRAP', 'score': 5.6}, {'connected_gene': 'FBXO6', 'score': 2.41}, {'connected_gene': 'MFN2', 'score': 1.87}, {'connected_gene': 'MIR7846', 'score': 0.44}, {'connected_gene': 'RPL23AP89', 'score': 0.18}]
chr1 GH01I012140 12140104 12154599 1.73 [{'connected_gene': 'TNFRSF1B', 'score': 24.03}, {'connected_gene': 'MTHFR', 'score': 9.71}, {'connected_gene': 'TNFRSF8', 'score': 7.53}, {'connected_gene': 'CLCN6', 'score': 7.18}, {'connected_gene': 'AGTRAP', 'score': 4.94}, {'connected_gene': 'NPPA-AS1', 'score': 4.65}, {'connected_gene': 'FBXO6', 'score': 2.13}, {'connected_gene': 'MFN2', 'score': 1.71}, {'connected_gene': 'MIR7846', 'score': 0.37}, {'connected_gene': 'RPL23AP89', 'score': 0.2}]
chr1 GH01I012166 12166617 12182213 2.58 [{'connected_gene': 'TNFRSF1B', 'score': 571.23}, {'connected_gene': 'MTHFR', 'score': 22.31}, {'connected_gene': 'TNFRSF8', 'score': 16.19}, {'connected_gene': 'CLCN6', 'score': 14.8}, {'connected_gene': 'VPS13D', 'score': 14.44}, {'connected_gene': 'AGTRAP', 'score': 6.79}, {'connected_gene': 'MIIP', 'score': 1.65}, {'connected_gene': 'MFN2', 'score': 1.31}, {'connected_gene': 'MIR7846', 'score': 0.44}, {'connected_gene': 'MIR4632', 'score': 0.37}]
chr1 GH01I011738 11738861 11739064 0.83 [{'connected_gene': 'TNFRSF1B', 'score': 14.74}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 5.44}, {'connected_gene': 'CLCN6', 'score': 5.44}, {'connected_gene': 'FBXO6', 'score': 4.42}, {'connected_gene': 'AGTRAP', 'score': 3.18}, {'connected_gene': 'TNFRSF8', 'score': 2.54}, {'connected_gene': 'MFN2', 'score': 1.81}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1 GH01I012165 12165339 12165661 0.94 [{'connected_gene': 'TNFRSF1B', 'score': 568.88}, {'connected_gene': 'MIR7846', 'score': 550.77}, {'connected_gene': 'MTHFR', 'score': 10.19}, {'connected_gene': 'CLCN6', 'score': 8.46}, {'connected_gene': 'TNFRSF8', 'score': 3.98}, {'connected_gene': 'AGTRAP', 'score': 3.56}, {'connected_gene': 'MFN2', 'score': 1.42}, {'connected_gene': 'RPL23AP89', 'score': 0.18}]
chr1 GH01I011704 11704364 11704493 0.66 [{'connected_gene': 'AGTRAP', 'score': 12.19}, {'connected_gene': 'FBXO2', 'score': 11.42}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.25}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1 GH01I011705 11705966 11707082 0.74 [{'connected_gene': 'AGTRAP', 'score': 16.82}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'EXOSC10', 'score': 9.67}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1 GH01I011735 11735202 11738570 2.53 [{'connected_gene': 'AGTRAP', 'score': 570.93}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'TNFRSF1B', 'score': 14.62}, {'connected_gene': 'ENSG00000226849', 'score': 12.73}, {'connected_gene': 'MAD2L2', 'score': 12.04}, {'connected_gene': 'DRAXIN', 'score': 12.02}, {'connected_gene': 'EXOSC10', 'score': 11.55}, {'connected_gene': 'C1orf127', 'score': 9.14}, {'connected_gene': 'MTHFR', 'score': 4.68}, {'connected_gene': 'CLCN6', 'score': 4.13}, {'connected_gene': 'TNFRSF8', 'score': 2.69}, {'connected_gene': 'FBXO6', 'score': 2.63}, {'connected_gene': 'MFN2', 'score': 1.62}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1 GH01I011711 11711164 11711313 0.64 [{'connected_gene': 'AGTRAP', 'score': 12.15}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.34}]
chr1 GH01I011747 11746784 11746933 0.4 [{'connected_gene': 'AGTRAP', 'score': 14.59}, {'connected_gene': 'GC01P011758', 'score': 0.44}]
chr1 GH01I011739 11739946 11741623 1.08 [{'connected_gene': 'AGTRAP', 'score': 15.92}, {'connected_gene': 'GC01P011758', 'score': 0.37}]
chr1 GH01I011707 11707311 11707962 1.06 [{'connected_gene': 'EXOSC10', 'score': 18.13}, {'connected_gene': 'TARDBP', 'score': 15.01}, {'connected_gene': 'AGTRAP', 'score': 12.21}, {'connected_gene': 'ENSG00000226849', 'score': 11.96}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.29}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'MTHFR', 'score': 11.11}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'DRAXIN', 'score': 5.08}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}]
chr1 GH01I011793 11793518 11794866 0.38 [{'connected_gene': 'MTHFR', 'score': 18.35}, {'connected_gene': 'NPPA-AS1', 'score': 16.02}, {'connected_gene': 'AGTRAP', 'score': 11.01}, {'connected_gene': 'NPPB', 'score': 10.81}, {'connected_gene': 'GC01M011790', 'score': 0.77}, {'connected_gene': 'GC01M011785', 'score': 0.77}, {'connected_gene': 'PIR55960', 'score': 0.77}]
chr1 GH01I011749 11749050 11749458 1.06 [{'connected_gene': 'TARDBP', 'score': 15.21}, {'connected_gene': 'AGTRAP', 'score': 14.42}, {'connected_gene': 'GC01P011758', 'score': 0.44}]
chr1 GH01I011725 11725401 11725993 1.03 [{'connected_gene': 'GC01P011722', 'score': 0.77}, {'connected_gene': 'AGTRAP', 'score': 0.44}, {'connected_gene': 'DRAXIN', 'score': 0.28}]
chr1 GH01I011746 11746224 11746373 0.4 [{'connected_gene': 'GC01P011758', 'score': 0.44}, {'connected_gene': 'AGTRAP', 'score': 0.39}]
chr1 GH01I011784 11784056 11793248 1.63 [{'connected_gene': 'GC01M011790', 'score': 550.77}, {'connected_gene': 'PIR55960', 'score': 550.77}, {'connected_gene': 'MTHFR', 'score': 19.6}, {'connected_gene': 'NPPA-AS1', 'score': 17.4}, {'connected_gene': 'CLCN6', 'score': 15.14}, {'connected_gene': 'AGTRAP', 'score': 11.02}, {'connected_gene': 'NPPB', 'score': 10.79}, {'connected_gene': 'GC01M011785', 'score': 0.44}, {'connected_gene': 'LOC102724659', 'score': 0.44}, {'connected_gene': 'C1orf167', 'score': 0.31}]
chr1 GH01I011729 11729000 11732999 1.31 [{'connected_gene': 'ENSG00000226849', 'score': 13.84}, {'connected_gene': 'TARDBP', 'score': 13.02}, {'connected_gene': 'AGTRAP', 'score': 6.61}, {'connected_gene': 'UBE2V2P3', 'score': 4.71}, {'connected_gene': 'GC01P011722', 'score': 0.44}]
chr1 GH01I011795 11795116 11799676 1.41 [{'connected_gene': 'GC01M011785', 'score': 550.77}, {'connected_gene': 'TARDBP', 'score': 19.36}, {'connected_gene': 'CLCN6', 'score': 18.24}, {'connected_gene': 'NPPA-AS1', 'score': 18.23}, {'connected_gene': 'ENSG00000226849', 'score': 12.73}, {'connected_gene': 'MTHFR', 'score': 12.32}, {'connected_gene': 'EXOSC10', 'score': 11.55}, {'connected_gene': 'AGTRAP', 'score': 11.45}, {'connected_gene': 'NPPB', 'score': 10.81}]

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