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
ENST00000339336 [[71384256, 71384371], [71384479, 71384548], [71388471, 71388555], [71389584, 71389650], [71390588, 71390678], [71394439, 71394475], [71394900, 71394927], [71396755, 71397017], [71398171, 71398459]] [[71384494, 71384548], [71388471, 71388555], [71389584, 71389650], [71390588, 71390678], [71394439, 71394475], [71394900, 71394927], [71396755, 71397017], [71398171, 71398182]]
ENST00000504451 [[71384301, 71384371], [71384479, 71384548], [71388474, 71388555], [71389584, 71389650], [71390588, 71390678], [71394439, 71394475], [71394900, 71394927], [71396755, 71397017], [71398171, 71398231]] [[71384494, 71384548], [71388474, 71388555], [71389584, 71389650], [71390588, 71390678], [71394439, 71394475], [71394900, 71394927], [71396755, 71397017], [71398171, 71398182]]
NM_001286731 [[71384288, 71384371], [71384479, 71384548], [71388474, 71388555], [71389584, 71389650], [71390588, 71390678], [71394439, 71394475], [71394900, 71394927], [71396755, 71397017], [71398171, 71398460]] [[71384494, 71384548], [71388474, 71388555], [71389584, 71389650], [71390588, 71390678], [71394439, 71394475], [71394900, 71394927], [71396755, 71397017], [71398171, 71398182]]
NM_212557 [[71384288, 71384371], [71384479, 71384548], [71388471, 71388555], [71389584, 71389650], [71390588, 71390678], [71394439, 71394475], [71394900, 71394927], [71396755, 71397017], [71398171, 71398460]] [[71384494, 71384548], [71388471, 71388555], [71389584, 71389650], [71390588, 71390678], [71394439, 71394475], [71394900, 71394927], [71396755, 71397017], [71398171, 71398182]]
Promoter
Chrom Start End Description
chr4 71384280 71384295 CAGE_peak_1_at_AMTN_5end
chr4 71384300 71384314 CAGE_peak_2_at_AMTN_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I070472 70472148 70472207 0.5 [{'connected_gene': 'MUC7', 'score': 550.26}, {'connected_gene': 'AMTN', 'score': 0.25}]
chr4 GH04I070471 70471909 70471968 0.5 [{'connected_gene': 'MUC7', 'score': 550.26}, {'connected_gene': 'AMTN', 'score': 0.25}]
chr4 GH04I070518 70518520 70518579 0.5 [{'connected_gene': 'AMTN', 'score': 550.77}, {'connected_gene': 'AMBN', 'score': 0.19}]
chr4 GH04I070522 70522664 70522813 0.46 [{'connected_gene': 'AMTN', 'score': 23.12}, {'connected_gene': 'AMBN', 'score': 0.2}]
chr4 GH04I070592 70592207 70592266 0.79 [{'connected_gene': 'AMBN', 'score': 550.77}, {'connected_gene': 'AMTN', 'score': 0.19}]
chr4 GH04I070584 70584684 70584793 0.78 [{'connected_gene': 'AMBN', 'score': 0.44}, {'connected_gene': 'AMTN', 'score': 0.2}]
chr4 GH04I070558 70558401 70558600 0.38 [{'connected_gene': 'AMBN', 'score': 0.29}, {'connected_gene': 'AMTN', 'score': 0.28}]