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
ENST00000366730 [[228327662, 228327860], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336541]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
ENST00000462807 [[228327928, 228328064], [228333171, 228333325], [228333726, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335394]] None
ENST00000391865 [[228327928, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336656]] [[228328003, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
ENST00000493209 [[228327965, 228328064], [228328824, 228328989], [228329326, 228329530], [228333211, 228333325], [228333726, 228333768], [228334542, 228334653]] None
ENST00000485838 [[228327966, 228328064], [228333211, 228333325], [228333726, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335400], [228336365, 228336583]] None
ENST00000469973 [[228327979, 228328064], [228328824, 228329534]] None
ENST00000485083 [[228327982, 228328064], [228328824, 228328989], [228333211, 228333768], [228334542, 228334609]] None
ENST00000366726 [[228327989, 228328064], [228333192, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336581]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
ENST00000312726 [[228327990, 228328064], [228328824, 228328989], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336647]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
ENST00000492871 [[228327990, 228328064], [228328824, 228328989], [228333211, 228333325], [228333726, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336647]] None
ENST00000366728 [[228327990, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336365, 228336656]] [[228328003, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336365, 228336553]]
ENST00000453943 [[228327998, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336392]] [[228328003, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336392]]
ENST00000366723 [[228328002, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228335934, 228335989], [228336076, 228336157], [228336365, 228336534]] [[228328003, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228335934, 228335989], [228336076, 228336140]]
ENST00000493138 [[228328007, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335315, 228335400], [228336071, 228336157], [228336365, 228336578]] None
ENST00000366722 [[228328017, 228328064], [228333192, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335321, 228335400], [228336071, 228336240], [228336365, 228336509]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335321, 228335400], [228336071, 228336240], [228336365, 228336456]]
ENST00000498092 [[228328018, 228328064], [228328824, 228329208], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335358]] None
ENST00000435153 [[228328018, 228328064], [228329333, 228329530], [228333192, 228333325], [228333726, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335400], [228336365, 228336510]] [[228329334, 228329530], [228333192, 228333325], [228333726, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335400], [228336365, 228336510]]
ENST00000366721 [[228328032, 228328064], [228333211, 228333350], [228333726, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336453]] [[228333213, 228333350], [228333726, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
ENST00000491613 [[228328823, 228329530], [228333211, 228333463]] None
ENST00000485733 [[228328823, 228328989], [228333211, 228333325], [228333726, 228333768], [228334561, 228334584]] None
ENST00000460224 [[228328832, 228328989], [228333211, 228333325], [228333713, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335411]] None
ENST00000484953 [[228328896, 228328989], [228333211, 228333350], [228333726, 228333767]] None
ENST00000472939 [[228328949, 228328989], [228333211, 228333325], [228333726, 228333768], [228334561, 228334639], [228335106, 228335146]] None
ENST00000412265 [[228329082, 228329530], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336158]] [[228329334, 228329530], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336158]]
ENST00000366718 [[228332028, 228332453], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336652]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
ENST00000470040 [[228332597, 228334639], [228335106, 228335245], [228336071, 228336157], [228336365, 228336647]] None
ENST00000366716 [[228333154, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336685]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
ENST00000485859 [[228333210, 228333325], [228333726, 228333936]] None
ENST00000485168 [[228333210, 228333768], [228334542, 228334639], [228335106, 228335188]] None
ENST00000478725 [[228333210, 228333350], [228333726, 228333768], [228334561, 228334639], [228335106, 228335260]] None
ENST00000495999 [[228333215, 228333325], [228333713, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336140]] None
ENST00000486668 [[228333261, 228333350], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336365, 228336651]] None
ENST00000464858 [[228333583, 228333768], [228334561, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336425]] None
ENST00000470155 [[228333729, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335360], [228336442, 228336656]] None
ENST00000481341 [[228334526, 228334639], [228335110, 228335245], [228335315, 228335400]] None
ENST00000498115 [[228334540, 228334639], [228335106, 228335400], [228336071, 228336474]] None
ENST00000465025 [[228335124, 228335245], [228335315, 228335400], [228336071, 228336648]] None
ENST00000477206 [[228335166, 228335400], [228336071, 228336157], [228336365, 228336634]] None
ENST00000471270 [[228335791, 228336157], [228336365, 228336656]] None
ENST00000480056 [[228335818, 228335989], [228336076, 228336157], [228336365, 228336656]] None
NM_001242839 [[228327784, 228327860], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336656]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
NM_001242840 [[228327928, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336365, 228336656]] [[228328003, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336365, 228336553]]
NM_001159390 [[228327928, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336656]] [[228328003, 228328064], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
NM_000858 [[228327928, 228328064], [228328824, 228328989], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336656]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
NM_001159391 [[228332403, 228332453], [228333211, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336656]] [[228333213, 228333325], [228333726, 228333768], [228334542, 228334639], [228335106, 228335245], [228335315, 228335400], [228336071, 228336157], [228336365, 228336398]]
Promoter
Chrom Start End Description
chr1 228327923 228327934 CAGE_peak_2_at_GUK1_5end
chr1 228327943 228328044 CAGE_peak_1_at_GUK1_5end
chr1 228328053 228328070 CAGE_peak_3_at_GUK1_5end
chr1 228332390 228332414 CAGE_peak_6_at_GUK1_5end
chr1 228332714 228332751 CAGE_peak_16_at_GUK1_5end
chr1 228333555 228333570 CAGE_peak_11_at_GUK1_5end
chr1 228333576 228333620 CAGE_peak_4_at_GUK1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I228147 228147835 228152867 1.96 [{'connected_gene': 'GJC2', 'score': 557.51}, {'connected_gene': 'OBSCN-AS1', 'score': 5.39}, {'connected_gene': 'OBSCN', 'score': 4.84}, {'connected_gene': 'IBA57', 'score': 4.54}, {'connected_gene': 'ENSG00000269934', 'score': 4.13}, {'connected_gene': 'GC01P228162', 'score': 0.39}, {'connected_gene': 'GUK1', 'score': 0.39}]
chr1 GH01I228137 228137689 228146440 2.3 [{'connected_gene': 'GUK1', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 49.82}, {'connected_gene': 'CICP26', 'score': 31.83}, {'connected_gene': 'CDC42BPA', 'score': 23.49}, {'connected_gene': 'ENSG00000269890', 'score': 22.8}, {'connected_gene': 'OBSCN-AS1', 'score': 16.65}, {'connected_gene': 'FAM96AP2', 'score': 12.63}, {'connected_gene': 'MRPL55', 'score': 12.61}, {'connected_gene': 'JMJD4', 'score': 10.57}, {'connected_gene': 'HIST3H3', 'score': 10.07}, {'connected_gene': 'RPL23AP15', 'score': 9.97}, {'connected_gene': 'HIST3H2A', 'score': 9.97}, {'connected_gene': 'HIST3H2BB', 'score': 9.97}, {'connected_gene': 'ENSG00000269934', 'score': 9.73}, {'connected_gene': 'ZNF678', 'score': 9.66}, {'connected_gene': 'GC01P228138', 'score': 0.77}, {'connected_gene': 'GJC2', 'score': 0.44}]
chr1 GH01I228178 228178104 228179895 1.1 [{'connected_gene': 'PIR41583', 'score': 550.77}, {'connected_gene': 'PIR60130', 'score': 550.77}, {'connected_gene': 'GC01P228181', 'score': 550.77}, {'connected_gene': 'OBSCN', 'score': 31.38}, {'connected_gene': 'GUK1', 'score': 5.88}, {'connected_gene': 'IBA57', 'score': 0.39}]

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