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
ENST00000486436 [[54172656, 54172764], [54173394, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191638]] None
ENST00000370869 [[54172763, 54172897], [54173394, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191714], [54191938, 54192008]] [[54172863, 54172897], [54173394, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191714], [54191938, 54191944]]
ENST00000259782 [[54173252, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191714], [54208023, 54208147], [54212164, 54212315], [54214513, 54214694], [54216149, 54216195], [54219310, 54219434], [54245323, 54245369], [54254588, 54254950]] [[54173348, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191714], [54208023, 54208147], [54212164, 54212315], [54214513, 54214694], [54216149, 54216195], [54219310, 54219434], [54245323, 54245369], [54254588, 54254723]]
ENST00000370864 [[54173370, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191804]] [[54173402, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191756]]
NM_014464 [[54173202, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191714], [54208023, 54208147], [54212164, 54212315], [54214513, 54214694], [54216149, 54216195], [54219310, 54219434], [54245323, 54245369], [54254588, 54254950]] [[54173348, 54173703], [54185376, 54185440], [54186094, 54186184], [54191599, 54191714], [54208023, 54208147], [54212164, 54212315], [54214513, 54214694], [54216149, 54216195], [54219310, 54219434], [54245323, 54245369], [54254588, 54254723]]
Promoter
Chrom Start End Description
chr6 54172563 54172572 CAGE_peak_4_at_TINAG_5end
chr6 54172621 54172634 CAGE_peak_3_at_TINAG_5end
chr6 54172653 54172665 CAGE_peak_2_at_TINAG_5end
chr6 54173227 54173264 CAGE_peak_1_at_TINAG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I054281 54281778 54283055 0.43 [{'connected_gene': 'TINAG', 'score': 11.43}, {'connected_gene': 'GC06M054286', 'score': 0.77}, {'connected_gene': 'PIR57485', 'score': 0.37}]
chr6 GH06I054307 54307018 54309904 1.1 [{'connected_gene': 'TINAG', 'score': 550.77}, {'connected_gene': 'PIR37965', 'score': 0.37}, {'connected_gene': 'GC06M054324', 'score': 0.37}]
chr6 GH06I054283 54283405 54285224 0.2 [{'connected_gene': 'TINAG', 'score': 11.46}, {'connected_gene': 'GC06M054286', 'score': 0.77}, {'connected_gene': 'PIR57485', 'score': 0.37}]
chr6 GH06I054335 54335326 54336938 0.85 [{'connected_gene': 'TINAG', 'score': 12.2}, {'connected_gene': 'PIR37965', 'score': 0.39}, {'connected_gene': 'GC06M054324', 'score': 0.39}, {'connected_gene': 'ENSG00000228231', 'score': 0.29}]
chr6 GH06I054877 54877786 54879944 1.18 [{'connected_gene': 'ENSG00000224984', 'score': 26.32}, {'connected_gene': 'FAM83B', 'score': 11.46}, {'connected_gene': 'TINAG', 'score': 9.72}, {'connected_gene': 'GC06P054848', 'score': 0.29}, {'connected_gene': 'ENSG00000261116', 'score': 0.21}]