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
ENST00000155674 [[17618400, 17619247], [17619439, 17619628], [17621948, 17622123], [17623987, 17624021], [17625913, 17626007], [17629337, 17629450], [17630431, 17630635], [17646098, 17646177]] [[17618910, 17619247], [17619439, 17619628], [17621948, 17622123], [17623987, 17624021], [17625913, 17626007], [17629337, 17629450], [17630431, 17630635], [17646098, 17646134]]
ENST00000336737 [[17618409, 17619247], [17619439, 17619628], [17621948, 17622123], [17623987, 17624021], [17625913, 17626007], [17629337, 17629450], [17630431, 17630635], [17640015, 17640167]] [[17618910, 17619247], [17619439, 17619628], [17621948, 17622123], [17623987, 17624021], [17625913, 17626007], [17629337, 17629450], [17630431, 17630635], [17640015, 17640141]]
ENST00000477157 [[17618411, 17619247], [17619439, 17619628], [17621948, 17624537]] None
ENST00000399852 [[17618468, 17619247], [17621948, 17622123], [17623987, 17624021], [17640015, 17640145]] [[17618910, 17619247], [17621948, 17622123], [17623987, 17624021], [17640015, 17640141]]
ENST00000486462 [[17618471, 17619247], [17619439, 17619628], [17621948, 17622123], [17622282, 17622733]] None
ENST00000463033 [[17629337, 17629450], [17639346, 17639876]] None
ENST00000480451 [[17629338, 17629450], [17630431, 17630635], [17639346, 17640058]] None
Promoter
Chrom Start End Description
chr22 17639562 17639574 CAGE_peak_5_at_CECR5_5end
chr22 17639865 17639922 CAGE_peak_3_at_CECR5_5end
chr22 17640051 17640104 CAGE_peak_2_at_CECR5_5end
chr22 17640110 17640185 CAGE_peak_1_at_CECR5_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr22 GH22I017769 17769130 17779154 2.47 [{'connected_gene': 'BID', 'score': 564.93}, {'connected_gene': 'MICAL3', 'score': 11.01}, {'connected_gene': 'HDHD5', 'score': 4.54}, {'connected_gene': 'BCL2L13', 'score': 2.36}, {'connected_gene': 'CECR2', 'score': 1.94}, {'connected_gene': 'LINC00528', 'score': 0.77}, {'connected_gene': 'PIR62667', 'score': 0.44}]
chr22 GH22I017233 17233077 17236254 0.85 [{'connected_gene': 'CECR3', 'score': 13.03}, {'connected_gene': 'CECR2', 'score': 10.26}, {'connected_gene': 'ADA2', 'score': 4.12}, {'connected_gene': 'GAB4', 'score': 3.26}, {'connected_gene': 'HDHD5', 'score': 1.76}]
chr22 GH22I017148 17148787 17151700 0.49 [{'connected_gene': 'HDHD5', 'score': 10.62}, {'connected_gene': 'IL17RA', 'score': 7.97}, {'connected_gene': 'TMEM121B', 'score': 6.84}, {'connected_gene': 'HDHD5-AS1', 'score': 0.44}, {'connected_gene': 'GC22P017137', 'score': 0.37}]
chr22 GH22I017157 17157793 17160406 1.99 [{'connected_gene': 'HDHD5', 'score': 559.96}, {'connected_gene': 'HDHD5-AS1', 'score': 550.77}, {'connected_gene': 'LINC01664', 'score': 12.06}, {'connected_gene': 'TMEM121B', 'score': 12.06}, {'connected_gene': 'GC22P017137', 'score': 0.34}]
chr22 GH22I017164 17164811 17164920 0.38 [{'connected_gene': 'HDHD5', 'score': 550.77}, {'connected_gene': 'HDHD5-AS1', 'score': 0.44}]
chr22 GH22I017170 17170783 17173064 1.48 [{'connected_gene': 'IL17RA', 'score': 7.54}, {'connected_gene': 'HDHD5', 'score': 5.33}, {'connected_gene': 'RPL32P5', 'score': 0.34}]
chr22 GH22I017191 17191130 17191600 0.52 [{'connected_gene': 'RPL32P5', 'score': 550.77}, {'connected_gene': 'GC22P017193', 'score': 550.77}, {'connected_gene': 'ADA2', 'score': 11.83}, {'connected_gene': 'CECR3', 'score': 11.72}, {'connected_gene': 'CECR2', 'score': 11.42}, {'connected_gene': 'LINC01664', 'score': 11.21}, {'connected_gene': 'TMEM121B', 'score': 11.21}, {'connected_gene': 'HDHD5', 'score': 0.31}]
chr22 GH22I017152 17152846 17153452 0.2 [{'connected_gene': 'LINC01664', 'score': 12.08}, {'connected_gene': 'TMEM121B', 'score': 12.08}, {'connected_gene': 'IL17RA', 'score': 7.49}, {'connected_gene': 'HDHD5', 'score': 5.87}, {'connected_gene': 'HDHD5-AS1', 'score': 0.44}, {'connected_gene': 'GC22P017137', 'score': 0.37}]
chr22 GH22I017131 17131909 17132623 0.54 [{'connected_gene': 'GC22P017136', 'score': 550.77}, {'connected_gene': 'HDHD5-AS1', 'score': 12.68}, {'connected_gene': 'HDHD5', 'score': 12.67}, {'connected_gene': 'CECR2', 'score': 10.65}, {'connected_gene': 'ADA2', 'score': 9.92}, {'connected_gene': 'CECR3', 'score': 9.87}, {'connected_gene': 'LINC01664', 'score': 7.6}]