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
ENST00000339475 [[57267424, 57269073], [57270905, 57271081], [57272077, 57272293], [57276876, 57276940], [57277093, 57277187]] [[57268452, 57269073], [57270905, 57271081], [57272077, 57272174]]
ENST00000408990 [[57268447, 57269073], [57270905, 57271057], [57272077, 57272381]] [[57268452, 57269073], [57270905, 57271057], [57272077, 57272174]]
ENST00000555006 [[57268452, 57269073], [57270905, 57271057], [57272077, 57272293], [57276876, 57277166]] [[57268452, 57269073], [57270905, 57271057], [57272077, 57272174]]
ENST00000554788 [[57268527, 57269073], [57272077, 57272366]] [[57269062, 57269073], [57272077, 57272174]]
ENST00000554845 [[57268630, 57269073], [57270905, 57271081], [57272077, 57272366]] [[57268630, 57269073], [57270905, 57271081], [57272077, 57272174]]
ENST00000554559 [[57268742, 57269073], [57272077, 57272293], [57276876, 57276940], [57277093, 57277197]] [[57269062, 57269073], [57272077, 57272174]]
ENST00000555804 [[57268832, 57269073], [57270905, 57271057], [57272077, 57272293], [57273421, 57273441], [57276876, 57276940], [57277093, 57277197]] [[57268832, 57269073], [57270905, 57271057], [57272077, 57272174]]
NM_001270525 [[57267424, 57269073], [57270905, 57271081], [57272077, 57272381]] [[57268452, 57269073], [57270905, 57271081], [57272077, 57272174]]
NM_172337 [[57267424, 57269073], [57270905, 57271057], [57272077, 57272381]] [[57268452, 57269073], [57270905, 57271057], [57272077, 57272174]]
NR_073036 [[57267424, 57269073], [57272077, 57272381]] None
NM_001270524 [[57267424, 57269073], [57270905, 57271057], [57272077, 57272293], [57276876, 57277194]] [[57268452, 57269073], [57270905, 57271057], [57272077, 57272174]]
NM_021728 [[57267424, 57269073], [57270905, 57271081], [57272077, 57272293], [57276876, 57276940], [57277093, 57277194]] [[57268452, 57269073], [57270905, 57271081], [57272077, 57272174]]
NM_001270523 [[57267424, 57269073], [57270905, 57271057], [57272077, 57272293], [57276876, 57276940], [57277093, 57277194]] [[57268452, 57269073], [57270905, 57271057], [57272077, 57272174]]
NR_073034 [[57267424, 57269073], [57272077, 57272293], [57276876, 57276940], [57277093, 57277194]] None
Promoter
Chrom Start End Description
chr14 57272369 57272391 CAGE_peak_2_at_OTX2_5end
chr14 57277098 57277116 CAGE_peak_3_at_OTX2_5end
chr14 57277163 57277168 CAGE_peak_4_at_OTX2_5end
chr14 57277178 57277203 CAGE_peak_1_at_OTX2_5end
chr14 57277357 57277384 CAGE_peak_5_at_OTX2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr14 GH14I056957 56957498 56957578 0.22 [{'connected_gene': 'OTX2', 'score': 1.36}, {'connected_gene': 'RPL3P3', 'score': 0.34}, {'connected_gene': 'GC14P056899', 'score': 0.22}, {'connected_gene': 'OTX2-AS1', 'score': 0.11}]
chr14 GH14I056905 56905284 56905896 0.68 [{'connected_gene': 'OTX2', 'score': 2.53}, {'connected_gene': 'GC14P056899', 'score': 0.44}, {'connected_gene': 'RPL3P3', 'score': 0.19}, {'connected_gene': 'OTX2-AS1', 'score': 0.16}]
chr14 GH14I056796 56796303 56796727 0.59 [{'connected_gene': 'OTX2', 'score': 6.03}, {'connected_gene': 'AP5M1', 'score': 1.23}, {'connected_gene': 'GC14M056800', 'score': 0.77}, {'connected_gene': 'ENSG00000258703', 'score': 0.28}]
chr14 GH14I056815 56815296 56815630 0.34 [{'connected_gene': 'OTX2', 'score': 11.79}, {'connected_gene': 'OTX2-AS1', 'score': 0.77}, {'connected_gene': 'RN7SL461P', 'score': 0.44}]
chr14 GH14I056810 56810469 56810528 0.79 [{'connected_gene': 'OTX2', 'score': 550.77}, {'connected_gene': 'OTX2-AS1', 'score': 0.77}]
chr14 GH14I056841 56841201 56841476 0.22 [{'connected_gene': 'OTX2', 'score': 3.83}, {'connected_gene': 'GC14P056857', 'score': 0.37}, {'connected_gene': 'GC14P056825', 'score': 0.37}, {'connected_gene': 'OTX2-AS1', 'score': 0.31}, {'connected_gene': 'ENSG00000258776', 'score': 0.23}]
chr14 GH14I056876 56876537 56876793 0.27 [{'connected_gene': 'OTX2', 'score': 5.84}, {'connected_gene': 'GC14P056891', 'score': 0.39}, {'connected_gene': 'ENSG00000258776', 'score': 0.37}, {'connected_gene': 'GC14P056857', 'score': 0.37}, {'connected_gene': 'OTX2-AS1', 'score': 0.21}]
chr14 GH14I056850 56850252 56850358 0.24 [{'connected_gene': 'OTX2', 'score': 1.6}, {'connected_gene': 'GC14P056857', 'score': 0.44}, {'connected_gene': 'GC14P056825', 'score': 0.31}, {'connected_gene': 'OTX2-AS1', 'score': 0.28}, {'connected_gene': 'ENSG00000258776', 'score': 0.26}]
chr14 GH14I056813 56811023 56811152 0.43 [{'connected_gene': 'OTX2', 'score': 550.77}, {'connected_gene': 'OTX2-AS1', 'score': 0.77}]
chr14 GH14I056804 56804863 56809332 1.29 [{'connected_gene': 'OTX2', 'score': 550.77}, {'connected_gene': 'GC14M056800', 'score': 0.44}]
chr14 GH14I056814 56812163 56812272 0.43 [{'connected_gene': 'OTX2-AS1', 'score': 550.77}, {'connected_gene': 'OTX2', 'score': 550.77}]
chr14 GH14I056811 56811943 56812072 0.43 [{'connected_gene': 'OTX2-AS1', 'score': 550.77}, {'connected_gene': 'OTX2', 'score': 550.77}]
chr14 GH14I056812 56811303 56811452 0.38 [{'connected_gene': 'OTX2-AS1', 'score': 550.77}, {'connected_gene': 'OTX2', 'score': 550.77}]
chr14 GH14I056760 56760307 56760668 0.67 [{'connected_gene': 'ENSG00000258703', 'score': 550.77}, {'connected_gene': 'TMEM260', 'score': 12.11}, {'connected_gene': 'LOC105370515', 'score': 9.76}, {'connected_gene': 'OTX2', 'score': 5.91}, {'connected_gene': 'GC14M056800', 'score': 0.26}]
chr14 GH14I056899 56899353 56900889 0.86 [{'connected_gene': 'GC14P056899', 'score': 550.77}, {'connected_gene': 'OTX2', 'score': 5.33}, {'connected_gene': 'RPL3P3', 'score': 0.18}, {'connected_gene': 'OTX2-AS1', 'score': 0.17}]

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