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
ENST00000321792 [[89445138, 89449749], [89458267, 89458455]] [[89448336, 89449509]]
ENST00000399794 [[89445141, 89449749], [89453934, 89454034], [89458267, 89458643]] [[89448336, 89449509]]
ENST00000413769 [[89449033, 89449749], [89453934, 89454034], [89458267, 89458442]] None
NM_001162536 [[89445138, 89449749], [89453934, 89454034], [89458267, 89458643]] [[89448336, 89449509]]
NM_019610 [[89445138, 89449749], [89458267, 89458643]] [[89448336, 89449509]]
Promoter
Chrom Start End Description
chr1 89458415 89458463 CAGE_peak_1_at_RBMXL1_5end,CAGE_peak_2_at_CCBL2_5end
chr1 89458651 89458685 CAGE_peak_2_at_RBMXL1_5end,CAGE_peak_6_at_CCBL2_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I088990 88990547 88994566 2.49 [{'connected_gene': 'KYAT3', 'score': 550.77}, {'connected_gene': 'RBMXL1', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 86.11}, {'connected_gene': 'GBP5', 'score': 10.91}, {'connected_gene': 'GBP6', 'score': 10.8}, {'connected_gene': 'GBP7', 'score': 5.12}, {'connected_gene': 'PTGES3P1', 'score': 4.75}, {'connected_gene': 'GC01M088952', 'score': 0.28}]
chr1 GH01I088682 88682334 88686789 2.11 [{'connected_gene': 'PKN2', 'score': 613.9}, {'connected_gene': 'PKN2-AS1', 'score': 550.77}, {'connected_gene': 'KYAT3', 'score': 54.13}, {'connected_gene': 'ELOCP19', 'score': 14.8}, {'connected_gene': 'LOC100130455', 'score': 11.27}, {'connected_gene': 'RBMXL1', 'score': 10.37}, {'connected_gene': 'PTGES3P1', 'score': 9.78}]
chr1 GH01I088700 88700001 88702600 1.22 [{'connected_gene': 'GBP3', 'score': 14.58}, {'connected_gene': 'PKN2', 'score': 10.9}, {'connected_gene': 'RBMXL1', 'score': 10.37}, {'connected_gene': 'GTF2B', 'score': 7.95}, {'connected_gene': 'GBP2', 'score': 6.73}, {'connected_gene': 'GBP4', 'score': 3.37}, {'connected_gene': 'GBP1', 'score': 2.6}, {'connected_gene': 'GC01P088703', 'score': 0.77}, {'connected_gene': 'PKN2-AS1', 'score': 0.37}]
chr1 GH01I089081 89081001 89081400 0.72 [{'connected_gene': 'GBP3', 'score': 22.99}, {'connected_gene': 'GBP5', 'score': 10.99}, {'connected_gene': 'GBP7', 'score': 10.39}, {'connected_gene': 'RBMXL1', 'score': 4.52}, {'connected_gene': 'GBP1', 'score': 0.37}, {'connected_gene': 'GC01M089104', 'score': 0.34}, {'connected_gene': 'LOC105378841', 'score': 0.25}]
chr1 GH01I089051 89051339 89052801 0.66 [{'connected_gene': 'GBP3', 'score': 49.53}, {'connected_gene': 'GBP5', 'score': 10.1}, {'connected_gene': 'GBP7', 'score': 9.51}, {'connected_gene': 'RBMXL1', 'score': 4.64}, {'connected_gene': 'GC01M089045', 'score': 0.44}, {'connected_gene': 'GBP1', 'score': 0.39}, {'connected_gene': 'LOC105378841', 'score': 0.37}]
chr1 GH01I088889 88889569 88893602 2.42 [{'connected_gene': 'GTF2B', 'score': 550.77}, {'connected_gene': 'KYAT3', 'score': 65.83}, {'connected_gene': 'PKN2', 'score': 41.89}, {'connected_gene': 'ELOCP19', 'score': 13.9}, {'connected_gene': 'LOC100130455', 'score': 13.11}, {'connected_gene': 'PTGES3P1', 'score': 9.81}, {'connected_gene': 'RBMXL1', 'score': 4.45}, {'connected_gene': 'GC01M088841', 'score': 0.25}]
chr1 GH01I088983 88983458 88986492 1 [{'connected_gene': 'GBP6', 'score': 10.73}, {'connected_gene': 'RBMXL1', 'score': 10.62}, {'connected_gene': 'GBP5', 'score': 10.42}, {'connected_gene': 'LOC100421401', 'score': 10.22}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'GC01M088952', 'score': 0.29}]
chr1 GH01I088989 88989801 88990000 0.38 [{'connected_gene': 'GBP5', 'score': 10.91}, {'connected_gene': 'GBP6', 'score': 10.8}, {'connected_gene': 'KYAT3', 'score': 0.77}, {'connected_gene': 'RBMXL1', 'score': 0.77}, {'connected_gene': 'GC01M088952', 'score': 0.28}]
chr1 GH01I088998 88998818 88998967 0.57 [{'connected_gene': 'GC01P089002', 'score': 0.77}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'RBMXL1', 'score': 0.44}]
chr1 GH01I089043 89043758 89046836 1.09 [{'connected_gene': 'GC01M089045', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 55.37}, {'connected_gene': 'GBP5', 'score': 11.25}, {'connected_gene': 'GBP7', 'score': 10.75}, {'connected_gene': 'RBMXL1', 'score': 4.66}, {'connected_gene': 'LOC105378841', 'score': 0.39}]
chr1 GH01I089001 89001251 89001492 0.26 [{'connected_gene': 'GC01P089002', 'score': 550.77}, {'connected_gene': 'GBP3', 'score': 24.37}, {'connected_gene': 'GBP5', 'score': 10.39}, {'connected_gene': 'GBP7', 'score': 9.74}, {'connected_gene': 'GTF2B', 'score': 1.37}, {'connected_gene': 'GBP2', 'score': 1.26}, {'connected_gene': 'KYAT3', 'score': 0.44}, {'connected_gene': 'RBMXL1', 'score': 0.44}]