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
ENST00000461845 [[85822847, 85822972], [85823641, 85824139]] None
ENST00000441634 [[85822847, 85822972], [85823641, 85823772], [85823944, 85824054], [85824226, 85824704]] [[85822886, 85822972], [85823641, 85823772], [85823944, 85824054], [85824226, 85824319]]
ENST00000306368 [[85822856, 85822972], [85823641, 85823772], [85823944, 85824054], [85824226, 85824301], [85824567, 85824704]] [[85822886, 85822972], [85823641, 85823772], [85823944, 85824054], [85824226, 85824301], [85824567, 85824627]]
ENST00000414390 [[85822870, 85822972], [85823641, 85823772], [85823849, 85823943]] [[85822886, 85822972], [85823641, 85823772], [85823849, 85823943]]
ENST00000443647 [[85822878, 85822972], [85823641, 85823772], [85823979, 85824054], [85824226, 85824301], [85824567, 85824727]] [[85822886, 85822972], [85823641, 85823772], [85823979, 85823999]]
ENST00000456023 [[85822939, 85822972], [85823641, 85823772], [85824075, 85824301], [85824567, 85824736]] [[85822939, 85822972], [85823641, 85823772], [85824075, 85824301], [85824567, 85824688]]
NM_016494 [[85822836, 85822972], [85823641, 85823772], [85823944, 85824054], [85824226, 85824301], [85824567, 85824831]] [[85822886, 85822972], [85823641, 85823772], [85823944, 85824054], [85824226, 85824301], [85824567, 85824627]]
Promoter
Chrom Start End Description
chr2 85822839 85822853 CAGE_peak_2_at_RNF181_5end
chr2 85822859 85822884 CAGE_peak_1_at_RNF181_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I085594 85594054 85597726 2.01 [{'connected_gene': 'RNF181', 'score': 555.64}, {'connected_gene': 'GC02M085595', 'score': 550.77}, {'connected_gene': 'USP39', 'score': 24.77}, {'connected_gene': 'VAMP8', 'score': 11.07}, {'connected_gene': 'GGCX', 'score': 10.05}, {'connected_gene': 'VAMP5', 'score': 4.78}]
chr2 GH02I085587 85587211 85592442 1.49 [{'connected_gene': 'GGCX', 'score': 24.36}, {'connected_gene': 'VAMP8', 'score': 22.58}, {'connected_gene': 'C2orf68', 'score': 12.07}, {'connected_gene': 'USP39', 'score': 11.95}, {'connected_gene': 'CHMP3', 'score': 4.36}, {'connected_gene': 'VAMP5', 'score': 2.19}, {'connected_gene': 'RNF181', 'score': 0.44}]
chr2 GH02I085582 85582859 85586804 2.53 [{'connected_gene': 'VAMP5', 'score': 552.38}, {'connected_gene': 'VAMP8', 'score': 17.68}, {'connected_gene': 'GGCX', 'score': 15.36}, {'connected_gene': 'SH2D6', 'score': 11.04}, {'connected_gene': 'CAPG', 'score': 11.04}, {'connected_gene': 'MAT2A', 'score': 10.33}, {'connected_gene': 'ELMOD3', 'score': 9.42}, {'connected_gene': 'RETSAT', 'score': 9.42}, {'connected_gene': 'USP39', 'score': 5.08}, {'connected_gene': 'RNF181', 'score': 0.39}]
chr2 GH02I085593 85593078 85593227 0.74 [{'connected_gene': 'USP39', 'score': 6.91}, {'connected_gene': 'RNF181', 'score': 0.77}, {'connected_gene': 'VAMP5', 'score': 0.44}]

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