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
ENST00000467540 [[161122565, 161122781], [161123143, 161123247], [161123715, 161123910], [161126739, 161126807], [161127043, 161127107], [161127406, 161127483], [161127910, 161127989]] None
ENST00000368003 [[161123541, 161123910], [161126739, 161126807], [161127043, 161127107], [161127406, 161127483], [161127910, 161128001], [161128201, 161128646]] [[161123787, 161123910], [161126739, 161126807], [161127043, 161127107], [161127406, 161127483], [161127910, 161128001], [161128201, 161128282]]
ENST00000483191 [[161123773, 161123910], [161126739, 161126807], [161127043, 161127107], [161127406, 161127483], [161128201, 161128472]] None
ENST00000482672 [[161123774, 161123860], [161126739, 161127145]] None
ENST00000473766 [[161123783, 161123910], [161126739, 161126807], [161127043, 161127107], [161127406, 161128035]] None
ENST00000463735 [[161123846, 161123910], [161126739, 161126807], [161127043, 161127250]] None
NM_016406 [[161123533, 161123910], [161126739, 161126807], [161127043, 161127107], [161127406, 161127483], [161127910, 161128001], [161128201, 161128646]] [[161123787, 161123910], [161126739, 161126807], [161127043, 161127107], [161127406, 161127483], [161127910, 161128001], [161128201, 161128282]]
Promoter
Chrom Start End Description
chr1 161123536 161123588 CAGE_peak_2_at_UFC1_5end
chr1 161123592 161123603 CAGE_peak_4_at_UFC1_5end
chr1 161123606 161123619 CAGE_peak_3_at_UFC1_5end
chr1 161123758 161123792 CAGE_peak_1_at_UFC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I161043 161043999 161049778 2.27 [{'connected_gene': 'USF1', 'score': 550.77}, {'connected_gene': 'GC01P161046', 'score': 550.77}, {'connected_gene': 'PIR33280', 'score': 550.77}, {'connected_gene': 'DEDD', 'score': 20.46}, {'connected_gene': 'TSTD1', 'score': 16.14}, {'connected_gene': 'LOC100287049', 'score': 12.84}, {'connected_gene': 'ARHGAP30', 'score': 12.3}, {'connected_gene': 'LOC105371471', 'score': 12.24}, {'connected_gene': 'NECTIN4', 'score': 12.22}, {'connected_gene': 'KLHDC9', 'score': 11.63}, {'connected_gene': 'UFC1', 'score': 10.84}, {'connected_gene': 'ENSG00000224985', 'score': 10.83}, {'connected_gene': 'USP21', 'score': 10.83}, {'connected_gene': 'PPOX', 'score': 10.82}, {'connected_gene': 'DCAF8', 'score': 10.43}, {'connected_gene': 'LOC148430', 'score': 10.3}, {'connected_gene': 'F11R', 'score': 9.59}, {'connected_gene': 'ENSG00000232879', 'score': 9.06}]
chr1 GH01I161152 161152963 161155352 2.08 [{'connected_gene': 'UFC1', 'score': 550.77}, {'connected_gene': 'B4GALT3', 'score': 10.57}, {'connected_gene': 'ENSG00000224985', 'score': 0.44}]
chr1 GH01I161158 161158063 161162932 2.02 [{'connected_gene': 'USP21', 'score': 550.77}, {'connected_gene': 'ENSG00000224985', 'score': 550.77}, {'connected_gene': 'NIT1', 'score': 7.86}, {'connected_gene': 'TSTD1', 'score': 5.4}, {'connected_gene': 'PPOX', 'score': 0.44}, {'connected_gene': 'UFC1', 'score': 0.44}]

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