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
ENST00000507110 [[44809026, 44809665], [44811110, 44811256], [44812016, 44812122], [44813207, 44813384], [44815014, 44815624]] [[44809064, 44809665], [44811110, 44811256], [44812016, 44812122], [44813207, 44813384], [44815014, 44815304]]
ENST00000515647 [[44809944, 44810094], [44811110, 44811256], [44812016, 44812122], [44813207, 44813384], [44815014, 44815168]] None
ENST00000508129 [[44812086, 44812122], [44813207, 44813731]] None
ENST00000230914 [[44815320, 44815665], [44816544, 44820530]] None
NM_016640 [[44809026, 44809665], [44811110, 44811256], [44812016, 44812122], [44813207, 44813384], [44815014, 44815616]] [[44809064, 44809665], [44811110, 44811256], [44812016, 44812122], [44813207, 44813384], [44815014, 44815304]]
Promoter
Chrom Start End Description
chr5 44809032 44809067 CAGE_peak_1_at_MRPS30_5end
chr5 44809082 44809093 CAGE_peak_2_at_MRPS30_5end
chr5 44809108 44809123 CAGE_peak_3_at_MRPS30_5end
chr5 44809520 44809529 CAGE_peak_5_at_MRPS30_5end
chr5 44809574 44809581 CAGE_peak_4_at_MRPS30_5end
chr5 44809742 44809753 CAGE_peak_9_at_MRPS30_5end
chr5 44809814 44809828 CAGE_peak_7_at_MRPS30_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I044807 44807401 44807600 0.52 [{'connected_gene': 'MRPS30', 'score': 550.77}, {'connected_gene': 'MRPS30-DT', 'score': 550.77}, {'connected_gene': 'PIR31366', 'score': 0.39}, {'connected_gene': 'GC05M044556', 'score': 0.14}]
chr5 GH05I044811 44811401 44811600 0.2 [{'connected_gene': 'MRPS30', 'score': 0.77}, {'connected_gene': 'PIR47362', 'score': 0.44}, {'connected_gene': 'GC05M044556', 'score': 0.14}]
chr5 GH05I044808 44808065 44811385 2.08 [{'connected_gene': 'MRPS30-DT', 'score': 564.54}, {'connected_gene': 'MRPS30', 'score': 550.77}, {'connected_gene': 'ENSG00000272335', 'score': 15.01}, {'connected_gene': 'PIR47362', 'score': 0.39}, {'connected_gene': 'GC05M044556', 'score': 0.14}]

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