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
ENST00000542308 [[95517565, 95518116], [95518516, 95518588], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95556724, 95557916]] [[95517901, 95518116], [95518516, 95518588], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95556724, 95557560]]
ENST00000371418 [[95517641, 95518116], [95518516, 95518588], [95537135, 95537207], [95537302, 95537374], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95556724, 95557916]] [[95517901, 95518116], [95518516, 95518588], [95537135, 95537207], [95537302, 95537374], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95556724, 95557560]]
ENST00000371413 [[95517677, 95518116], [95518516, 95518588], [95537135, 95537207], [95537302, 95537374], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95557505, 95557914]] [[95517901, 95518116], [95518516, 95518588], [95537135, 95537207], [95537302, 95537374], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95557505, 95557543]]
ENST00000478763 [[95517677, 95518116], [95518516, 95518669]] None
ENST00000485458 [[95536933, 95537207], [95537302, 95537375]] None
ENST00000464250 [[95537313, 95537374], [95538540, 95538744]] None
NM_001308276 [[95517565, 95518116], [95518516, 95518588], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95556724, 95557931]] [[95517901, 95518116], [95518516, 95518588], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95556724, 95557560]]
NM_001308275 [[95517565, 95518116], [95518516, 95518588], [95537135, 95537207], [95537302, 95537374], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95557505, 95557931]] [[95517901, 95518116], [95518516, 95518588], [95537135, 95537207], [95537302, 95537374], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95557505, 95557543]]
NM_005097 [[95517565, 95518116], [95518516, 95518588], [95537135, 95537207], [95537302, 95537374], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95556724, 95557931]] [[95517901, 95518116], [95518516, 95518588], [95537135, 95537207], [95537302, 95537374], [95549855, 95549927], [95552499, 95552669], [95552942, 95553107], [95556724, 95557560]]
NR_131777 [[95517565, 95518125], [95518516, 95518588], [95549855, 95549990], [95552499, 95552669], [95552942, 95553107], [95556724, 95557931]] None
Promoter
Chrom Start End Description
chr10 95517593 95517610 CAGE_peak_5_at_LGI1_5end
chr10 95517616 95517650 CAGE_peak_2_at_LGI1_5end
chr10 95517660 95517678 CAGE_peak_4_at_LGI1_5end
chr10 95517685 95517743 CAGE_peak_1_at_LGI1_5end
chr10 95517748 95517790 CAGE_peak_3_at_LGI1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I093812 93812661 93814591 0.67 [{'connected_gene': 'LGI1', 'score': 11.76}, {'connected_gene': 'SLC35G1', 'score': 10.17}, {'connected_gene': 'LOC105378437', 'score': 0.34}, {'connected_gene': 'RAB11AP1', 'score': 0.2}]
chr10 GH10I093815 93815404 93815553 0.56 [{'connected_gene': 'LGI1', 'score': 11.32}, {'connected_gene': 'SLC35G1', 'score': 10.52}, {'connected_gene': 'LOC105378437', 'score': 0.31}, {'connected_gene': 'RAB11AP1', 'score': 0.2}]
chr10 GH10I093816 93816244 93816433 0.69 [{'connected_gene': 'LGI1', 'score': 11.32}, {'connected_gene': 'SLC35G1', 'score': 10.52}, {'connected_gene': 'LOC105378437', 'score': 0.31}, {'connected_gene': 'RAB11AP1', 'score': 0.2}]
chr10 GH10I093753 93753695 93754101 0.66 [{'connected_gene': 'LGI1', 'score': 4.05}, {'connected_gene': 'FRA10AC1', 'score': 1.36}, {'connected_gene': 'LOC101927013', 'score': 0.77}, {'connected_gene': 'GC10P093720', 'score': 0.29}]
chr10 GH10I093806 93806574 93808415 0.46 [{'connected_gene': 'LGI1', 'score': 11.79}, {'connected_gene': 'LOC105378437', 'score': 0.37}, {'connected_gene': 'RAB11AP1', 'score': 0.19}]
chr10 GH10I093756 93756867 93758448 1.3 [{'connected_gene': 'LGI1', 'score': 550.77}, {'connected_gene': 'LOC101927013', 'score': 550.77}, {'connected_gene': 'GC10P093720', 'score': 0.28}]
chr10 GH10I093893 93893364 93899835 1.95 [{'connected_gene': 'SLC35G1', 'score': 566.85}, {'connected_gene': 'LGI1', 'score': 9.33}, {'connected_gene': 'PIPSL', 'score': 0.2}]
chr10 GH10I093821 93821184 93821333 0.31 [{'connected_gene': 'SLC35G1', 'score': 10.75}, {'connected_gene': 'LGI1', 'score': 10.59}, {'connected_gene': 'LOC105378437', 'score': 0.29}, {'connected_gene': 'RAB11AP1', 'score': 0.21}]
chr10 GH10I093820 93820564 93820773 0.57 [{'connected_gene': 'SLC35G1', 'score': 10.75}, {'connected_gene': 'LGI1', 'score': 10.59}, {'connected_gene': 'LOC105378437', 'score': 0.29}, {'connected_gene': 'RAB11AP1', 'score': 0.21}]
chr10 GH10I093791 93790564 93790573 0.46 [{'connected_gene': 'LOC105378437', 'score': 550.77}, {'connected_gene': 'LGI1', 'score': 0.29}, {'connected_gene': 'RAB11AP1', 'score': 0.16}]
chr10 GH10I093790 93790424 93790512 0.46 [{'connected_gene': 'LOC105378437', 'score': 550.77}, {'connected_gene': 'LGI1', 'score': 0.29}, {'connected_gene': 'RAB11AP1', 'score': 0.16}]
chr10 GH10I093763 93763224 93763373 0.76 [{'connected_gene': 'ENSG00000280660', 'score': 550.77}, {'connected_gene': 'RPL17P34', 'score': 15.32}, {'connected_gene': 'ENSG00000273450', 'score': 10.65}, {'connected_gene': 'MYOF', 'score': 10.11}, {'connected_gene': 'LGI1', 'score': 0.44}, {'connected_gene': 'LOC105378437', 'score': 0.31}]

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