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
ENST00000335295 [[5246693, 5246956], [5247806, 5248029], [5248159, 5248301]] [[5246827, 5246956], [5247806, 5248029], [5248159, 5248251]]
ENST00000475226 [[5246884, 5246956], [5247806, 5248053]] None
ENST00000485743 [[5247492, 5248029], [5248159, 5248302]] None
ENST00000380315 [[5247849, 5248029], [5248159, 5248269], [5248741, 5248809], [5250481, 5250625]] [[5247849, 5248029], [5248159, 5248251]]
NM_000518 [[5246695, 5246956], [5247806, 5248029], [5248159, 5248301]] [[5246827, 5246956], [5247806, 5248029], [5248159, 5248251]]
Promoter
Chrom Start End Description
chr11 5246809 5246818 CAGE_peak_7_at_HBB_5end
chr11 5246822 5246871 CAGE_peak_4_at_HBB_5end
chr11 5246889 5246962 CAGE_peak_3_at_HBB_5end
chr11 5247798 5247808 CAGE_peak_8_at_HBB_5end
chr11 5247857 5247902 CAGE_peak_2_at_HBB_5end
chr11 5247918 5247954 CAGE_peak_5_at_HBB_5end
chr11 5247974 5247996 CAGE_peak_6_at_HBB_5end
chr11 5248294 5248308 CAGE_peak_1_at_HBB_5end

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