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
ENST00000484979 [[58205943, 58209245], [58240601, 58240660], [58240786, 58240967], [58298745, 58299695]] [[58206680, 58209245], [58240601, 58240660], [58240786, 58240832]]
ENST00000377918 [[58206654, 58209245], [58240601, 58240660], [58240794, 58240967], [58298745, 58303445]] [[58206680, 58209245], [58240601, 58240660], [58240794, 58240967], [58298745, 58299428]]
NM_001040429 [[58205788, 58209245], [58240601, 58240660], [58240794, 58240967], [58298745, 58303065]] [[58206680, 58209245], [58240601, 58240660], [58240794, 58240967], [58298745, 58299428]]
Promoter
Chrom Start End Description
chr13 58205562 58205573 CAGE_peak_6_at_PCDH17_5end
chr13 58205869 58205900 CAGE_peak_2_at_PCDH17_5end
chr13 58205930 58205965 CAGE_peak_1_at_PCDH17_5end
chr13 58206234 58206253 CAGE_peak_5_at_PCDH17_5end
chr13 58207801 58207824 CAGE_peak_4_at_PCDH17_5end
chr13 58207827 58207847 CAGE_peak_3_at_PCDH17_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I057582 57582087 57582236 0.31 [{'connected_gene': 'PCDH17', 'score': 0.25}, {'connected_gene': 'LOC105370217', 'score': 0.21}]
chr13 GH13I058050 58050736 58052328 0.2 [{'connected_gene': 'PCDH17', 'score': 13.81}, {'connected_gene': 'GC13P058012', 'score': 0.28}, {'connected_gene': 'LINC02338', 'score': 0.14}]
chr13 GH13I057865 57865211 57866259 0.52 [{'connected_gene': 'PCDH17', 'score': 6.38}, {'connected_gene': 'GC13P057869', 'score': 0.77}, {'connected_gene': 'GC13P057773', 'score': 0.16}]
chr13 GH13I057643 57643304 57645288 0.2 [{'connected_gene': 'PCDH17', 'score': 5.1}, {'connected_gene': 'ENSG00000278722', 'score': 0.39}, {'connected_gene': 'GC13M057672', 'score': 0.31}]
chr13 GH13I057662 57662550 57664469 0.2 [{'connected_gene': 'PCDH17', 'score': 4.89}, {'connected_gene': 'GC13M057672', 'score': 0.44}, {'connected_gene': 'ENSG00000278722', 'score': 0.31}]
chr13 GH13I057629 57629467 57633944 1.94 [{'connected_gene': 'PCDH17', 'score': 550.77}, {'connected_gene': 'ENSG00000278722', 'score': 550.77}]
chr13 GH13I057527 57527387 57527476 0.31 [{'connected_gene': 'LOC105370217', 'score': 0.44}, {'connected_gene': 'PCDH17', 'score': 0.15}]
chr13 GH13I057636 57636745 57638939 0.2 [{'connected_gene': 'ENSG00000278722', 'score': 0.77}, {'connected_gene': 'PCDH17', 'score': 0.44}, {'connected_gene': 'GC13M057672', 'score': 0.28}]
chr13 GH13I057666 57666245 57666589 0.78 [{'connected_gene': 'GC13M057672', 'score': 0.44}, {'connected_gene': 'ENSG00000278722', 'score': 0.29}, {'connected_gene': 'PCDH17', 'score': 0.28}]
chr13 GH13I057661 57661231 57662331 0.2 [{'connected_gene': 'GC13M057672', 'score': 0.39}, {'connected_gene': 'ENSG00000278722', 'score': 0.31}, {'connected_gene': 'PCDH17', 'score': 0.29}]
chr13 GH13I057726 57726180 57726379 0.51 [{'connected_gene': 'GC13P057739', 'score': 0.39}, {'connected_gene': 'GC13M057672', 'score': 0.23}, {'connected_gene': 'PCDH17', 'score': 0.15}]
chr13 GH13I057672 57672827 57673510 0.31 [{'connected_gene': 'GC13M057672', 'score': 550.77}, {'connected_gene': 'PCDH17', 'score': 4.96}, {'connected_gene': 'ENSG00000278722', 'score': 0.28}]
chr13 GH13I057655 57655439 57656848 0.2 [{'connected_gene': 'GC13M057672', 'score': 0.37}, {'connected_gene': 'ENSG00000278722', 'score': 0.34}, {'connected_gene': 'PCDH17', 'score': 0.31}]
chr13 GH13I057640 57640102 57641383 0.31 [{'connected_gene': 'ENSG00000278722', 'score': 0.44}, {'connected_gene': 'PCDH17', 'score': 0.39}, {'connected_gene': 'GC13M057672', 'score': 0.29}]