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
ENST00000295304 [[53994928, 53995158], [53999043, 53999079], [54001278, 54002333]] [[53995023, 53995158], [53999043, 53999079], [54001278, 54001662]]
NM_001008708 [[53994919, 53995158], [53999043, 53999079], [54001278, 54002333]] [[53995023, 53995158], [53999043, 53999079], [54001278, 54001662]]
NM_001346127 [[53994919, 53995158], [53999043, 53999084], [54001278, 54002333]] [[53999081, 53999084], [54001278, 54001662]]
Promoter
Chrom Start End Description
chr2 53994927 53994979 CAGE_peak_1_at_CHAC2_5end
chr2 53994980 53994991 CAGE_peak_3_at_CHAC2_5end
chr2 53994992 53995005 CAGE_peak_2_at_CHAC2_5end
chr2 53995056 53995067 CAGE_peak_5_at_CHAC2_5end
chr2 53995070 53995086 CAGE_peak_7_at_CHAC2_5end
chr2 53995088 53995107 CAGE_peak_6_at_CHAC2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I053766 53766744 53769247 1.99 [{'connected_gene': 'CHAC2', 'score': 550.77}, {'connected_gene': 'ACYP2', 'score': 8.79}, {'connected_gene': 'ASB3', 'score': 4.31}, {'connected_gene': 'ERLEC1', 'score': 0.37}, {'connected_gene': 'GC02P053747', 'score': 0.34}, {'connected_gene': 'GPR75-ASB3', 'score': 0.16}]
chr2 GH02I053769 53769444 53769487 0.66 [{'connected_gene': 'CHAC2', 'score': 550.77}, {'connected_gene': 'ACYP2', 'score': 16.94}, {'connected_gene': 'ERLEC1', 'score': 0.37}, {'connected_gene': 'ASB3', 'score': 0.37}, {'connected_gene': 'GC02P053747', 'score': 0.34}, {'connected_gene': 'GPR75-ASB3', 'score': 0.16}]

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