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
ENST00000282026 [[50202434, 50202751], [50204565, 50208008]] [[50204583, 50205174]]
ENST00000490932 [[50202658, 50202751], [50204169, 50204235], [50206315, 50206373]] None
NM_138450 [[50202434, 50202751], [50204565, 50208008]] [[50204583, 50205174]]
Promoter
Chrom Start End Description
chr13 50202625 50202669 CAGE_peak_1_at_ARL11_5end
chr13 50202674 50202687 CAGE_peak_2_at_ARL11_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr13 GH13I049649 49649308 49653468 0.83 [{'connected_gene': 'EBPL', 'score': 28.28}, {'connected_gene': 'ARL11', 'score': 13.05}, {'connected_gene': 'KPNA3', 'score': 10.96}, {'connected_gene': 'PHF11', 'score': 10.55}, {'connected_gene': 'RCBTB1', 'score': 5.97}, {'connected_gene': 'GC13M049652', 'score': 0.77}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13 GH13I049442 49442897 49448355 2.47 [{'connected_gene': 'SETDB2', 'score': 562.96}, {'connected_gene': 'CAB39L', 'score': 561.63}, {'connected_gene': 'PHF11', 'score': 23.78}, {'connected_gene': 'ARL11', 'score': 10.83}, {'connected_gene': 'EBPL', 'score': 6.37}, {'connected_gene': 'SNRPGP14', 'score': 0.26}, {'connected_gene': 'GC13P049390', 'score': 0.22}]
chr13 GH13I049435 49435788 49437085 0.49 [{'connected_gene': 'SETDB2', 'score': 14.17}, {'connected_gene': 'ARL11', 'score': 4.51}, {'connected_gene': 'CAB39L', 'score': 0.44}, {'connected_gene': 'GC13P049413', 'score': 0.34}, {'connected_gene': 'GC13P049390', 'score': 0.25}]
chr13 GH13I049634 49634991 49636670 0.91 [{'connected_gene': 'RCBTB1', 'score': 13.42}, {'connected_gene': 'EBPL', 'score': 4.56}, {'connected_gene': 'CAB39L', 'score': 4.2}, {'connected_gene': 'ARL11', 'score': 1.64}, {'connected_gene': 'SETDB2', 'score': 1.23}, {'connected_gene': 'LOC105370205', 'score': 0.77}]
chr13 GH13I049624 49624858 49626854 1 [{'connected_gene': 'RCBTB1', 'score': 12.33}, {'connected_gene': 'PHF11', 'score': 8.56}, {'connected_gene': 'ARL11', 'score': 0.77}, {'connected_gene': 'LOC105370204', 'score': 0.44}]
chr13 GH13I049606 49606801 49607814 0.96 [{'connected_gene': 'RCBTB1', 'score': 24.41}, {'connected_gene': 'ARL11', 'score': 13.34}, {'connected_gene': 'PHF11', 'score': 11.67}, {'connected_gene': 'EBPL', 'score': 10.42}, {'connected_gene': 'GC13P049617', 'score': 0.39}]
chr13 GH13I049551 49551001 49551800 0.2 [{'connected_gene': 'RCBTB1', 'score': 14.15}, {'connected_gene': 'ARL11', 'score': 8.51}, {'connected_gene': 'PHF11', 'score': 0.22}, {'connected_gene': 'GC13P049390', 'score': 0.1}]
chr13 GH13I049494 49494389 49500998 2.39 [{'connected_gene': 'PHF11', 'score': 564.24}, {'connected_gene': 'SETDB2', 'score': 27.92}, {'connected_gene': 'TRIM13', 'score': 12.87}, {'connected_gene': 'KCNRG', 'score': 11.51}, {'connected_gene': 'EBPL', 'score': 10.61}, {'connected_gene': 'ARL11', 'score': 5.5}, {'connected_gene': 'RCBTB1', 'score': 0.17}, {'connected_gene': 'GC13P049390', 'score': 0.14}]
chr13 GH13I049640 49640976 49644200 1.31 [{'connected_gene': 'PHF11', 'score': 20.79}, {'connected_gene': 'RCBTB1', 'score': 13.03}, {'connected_gene': 'ARL11', 'score': 12.88}, {'connected_gene': 'EBPL', 'score': 11.77}, {'connected_gene': 'KPNA3', 'score': 10.65}, {'connected_gene': 'SETDB2', 'score': 10.26}, {'connected_gene': 'CAB39L', 'score': 4.77}, {'connected_gene': 'LOC105370205', 'score': 0.77}, {'connected_gene': 'GC13M049652', 'score': 0.39}]
chr13 GH13I049627 49627772 49630549 1.8 [{'connected_gene': 'ARL11', 'score': 563.09}, {'connected_gene': 'RCBTB1', 'score': 10.22}, {'connected_gene': 'PHF11', 'score': 7.91}, {'connected_gene': 'CAB39L', 'score': 4.47}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13 GH13I050121 50121689 50131823 2.28 [{'connected_gene': 'DLEU2', 'score': 555.7}, {'connected_gene': 'ENSG00000274270', 'score': 550.77}, {'connected_gene': 'SETDB2', 'score': 51.06}, {'connected_gene': 'TRIM13', 'score': 34.63}, {'connected_gene': 'KCNRG', 'score': 26.25}, {'connected_gene': 'DLEU1', 'score': 25.23}, {'connected_gene': 'RNASEH2B-AS1', 'score': 23.01}, {'connected_gene': 'CTAGE10P', 'score': 13.18}, {'connected_gene': 'RNASEH2B', 'score': 11.42}, {'connected_gene': 'EBPL', 'score': 9.37}, {'connected_gene': 'ARL11', 'score': 1.93}, {'connected_gene': 'ST13P4', 'score': 0.25}]
chr13 GH13I049653 49653585 49653772 0.31 [{'connected_gene': 'GC13M049652', 'score': 550.77}, {'connected_gene': 'GC13P049655', 'score': 550.77}, {'connected_gene': 'ARL11', 'score': 13.03}, {'connected_gene': 'EBPL', 'score': 11.76}, {'connected_gene': 'KPNA3', 'score': 10.7}, {'connected_gene': 'PHF11', 'score': 10.55}, {'connected_gene': 'LOC105370205', 'score': 0.39}]
chr13 GH13I049619 49619011 49620718 0.74 [{'connected_gene': 'GC13P049618', 'score': 550.77}, {'connected_gene': 'ENSG00000176882', 'score': 550.77}, {'connected_gene': 'LOC105370204', 'score': 550.77}, {'connected_gene': 'RCBTB1', 'score': 25.16}, {'connected_gene': 'ARL11', 'score': 15.53}, {'connected_gene': 'EBPL', 'score': 10.74}, {'connected_gene': 'KPNA3', 'score': 10.18}]