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
ENST00000011619 [[13621729, 13622724], [13625884, 13625996], [13632601, 13632753], [13634662, 13634784], [13638039, 13638187], [13639794, 13639985], [13641430, 13641539], [13642710, 13642823], [13644776, 13644961], [13652890, 13652913], [13657340, 13657508], [13659011, 13659064], [13697016, 13697128], [13711166, 13711796]] [[13622593, 13622724], [13625884, 13625996], [13632601, 13632753], [13634662, 13634784], [13638039, 13638187], [13639794, 13639985], [13641430, 13641539], [13642710, 13642823], [13644776, 13644961], [13652890, 13652913], [13657340, 13657508], [13659011, 13659064], [13697016, 13697128], [13711166, 13711737]]
ENST00000469916 [[13622564, 13622724], [13625884, 13625996], [13632601, 13632987]] None
ENST00000539980 [[13622593, 13622724], [13625884, 13625996], [13632601, 13632753], [13634662, 13634784], [13638039, 13638187], [13639794, 13639985], [13641430, 13641539], [13642710, 13642823], [13644776, 13644961], [13652890, 13652913], [13657340, 13657508], [13659011, 13659064], [13687047, 13687180]] [[13622593, 13622724], [13625884, 13625996], [13632601, 13632753], [13634662, 13634784], [13638039, 13638187], [13639794, 13639985], [13641430, 13641539], [13642710, 13642823], [13644776, 13644961], [13652890, 13652913], [13657340, 13657508], [13659011, 13659060]]
NM_005493 [[13621729, 13622724], [13625884, 13625996], [13632601, 13632753], [13634662, 13634784], [13638039, 13638187], [13639794, 13639985], [13641430, 13641539], [13642710, 13642823], [13644776, 13644961], [13652890, 13652913], [13657340, 13657508], [13659011, 13659064], [13697016, 13697128], [13711166, 13711796]] [[13622593, 13622724], [13625884, 13625996], [13632601, 13632753], [13634662, 13634784], [13638039, 13638187], [13639794, 13639985], [13641430, 13641539], [13642710, 13642823], [13644776, 13644961], [13652890, 13652913], [13657340, 13657508], [13659011, 13659064], [13697016, 13697128], [13711166, 13711737]]
Promoter
Chrom Start End Description
chr6 13711450 13711484 CAGE_peak_10_at_RANBP9_5end
chr6 13711749 13711752 CAGE_peak_12_at_RANBP9_5end
chr6 13711773 13711796 CAGE_peak_3_at_RANBP9_5end
chr6 13711800 13711815 CAGE_peak_6_at_RANBP9_5end
chr6 13711830 13711899 CAGE_peak_5_at_RANBP9_5end
chr6 13711911 13711929 CAGE_peak_7_at_RANBP9_5end
chr6 13711937 13711960 CAGE_peak_2_at_RANBP9_5end
chr6 13711973 13712000 CAGE_peak_4_at_RANBP9_5end
chr6 13712050 13712097 CAGE_peak_1_at_RANBP9_5end
chr6 13712112 13712123 CAGE_peak_9_at_RANBP9_5end
chr6 13712266 13712293 CAGE_peak_8_at_RANBP9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I014066 14066890 14067200 0.92 [{'connected_gene': 'CD83', 'score': 16.34}, {'connected_gene': 'RNF182', 'score': 10.35}, {'connected_gene': 'RNU7-133P', 'score': 10.27}, {'connected_gene': 'RANBP9', 'score': 9.73}, {'connected_gene': 'LOC105374939', 'score': 0.29}, {'connected_gene': 'ENSG00000233981', 'score': 0.21}]
chr6 GH06I014073 14073904 14076057 1.45 [{'connected_gene': 'CD83', 'score': 27.05}, {'connected_gene': 'RNU7-133P', 'score': 10.61}, {'connected_gene': 'RNF182', 'score': 10.48}, {'connected_gene': 'RANBP9', 'score': 1.33}, {'connected_gene': 'LOC105374939', 'score': 0.34}, {'connected_gene': 'ENSG00000233981', 'score': 0.19}]
chr6 GH06I014079 14079601 14079770 0.34 [{'connected_gene': 'CD83', 'score': 15.82}, {'connected_gene': 'RANBP9', 'score': 9.33}, {'connected_gene': 'LOC105374939', 'score': 0.37}, {'connected_gene': 'ENSG00000233981', 'score': 0.19}]
chr6 GH06I013794 13794309 13794418 0.67 [{'connected_gene': 'MCUR1', 'score': 13.12}, {'connected_gene': 'RANBP9', 'score': 11.13}, {'connected_gene': 'RNF182', 'score': 10.19}, {'connected_gene': 'RNU7-133P', 'score': 9.27}, {'connected_gene': 'GC06M013786', 'score': 0.77}, {'connected_gene': 'GC06P013802', 'score': 0.44}]
chr6 GH06I013810 13810393 13815459 2.3 [{'connected_gene': 'MCUR1', 'score': 550.77}, {'connected_gene': 'ENSG00000272209', 'score': 14.08}, {'connected_gene': 'RANBP9', 'score': 10.36}, {'connected_gene': 'RNF182', 'score': 1.68}, {'connected_gene': 'GC06M013802', 'score': 0.44}, {'connected_gene': 'GC06P013802', 'score': 0.39}]
chr6 GH06I013786 13786978 13788220 0.4 [{'connected_gene': 'MCUR1', 'score': 15.86}, {'connected_gene': 'RANBP9', 'score': 11.28}, {'connected_gene': 'ENSG00000272209', 'score': 7.64}, {'connected_gene': 'GC06M013786', 'score': 0.77}, {'connected_gene': 'GC06P013771', 'score': 0.37}]
chr6 GH06I013763 13763849 13763998 0.66 [{'connected_gene': 'MCUR1', 'score': 9.38}, {'connected_gene': 'GC06P013771', 'score': 0.44}, {'connected_gene': 'RANBP9', 'score': 0.23}]
chr6 GH06I013765 13765583 13768141 0.84 [{'connected_gene': 'MCUR1', 'score': 9.97}, {'connected_gene': 'ENSG00000272209', 'score': 8.22}, {'connected_gene': 'GC06P013771', 'score': 0.77}, {'connected_gene': 'RANBP9', 'score': 0.22}]
chr6 GH06I013424 13424961 13436204 1.6 [{'connected_gene': 'GFOD1', 'score': 28.71}, {'connected_gene': 'TBC1D7', 'score': 12.24}, {'connected_gene': 'GFOD1-AS1', 'score': 11.81}, {'connected_gene': 'SIRT5', 'score': 10.9}, {'connected_gene': 'RANBP9', 'score': 1.22}, {'connected_gene': 'GC06M013385', 'score': 0.34}, {'connected_gene': 'GC06M013422', 'score': 0.26}, {'connected_gene': 'GC06P013360', 'score': 0.2}, {'connected_gene': 'PIR51588', 'score': 0.2}]
chr6 GH06I013453 13453449 13456287 1.6 [{'connected_gene': 'GFOD1', 'score': 15.63}, {'connected_gene': 'GFOD1-AS1', 'score': 12.18}, {'connected_gene': 'SIRT5', 'score': 11.48}, {'connected_gene': 'TBC1D7', 'score': 8.29}, {'connected_gene': 'RANBP9', 'score': 1.27}, {'connected_gene': 'GC06M013385', 'score': 0.77}, {'connected_gene': 'GC06M013422', 'score': 0.37}]
chr6 GH06I013403 13403855 13408799 1.64 [{'connected_gene': 'GFOD1', 'score': 27.32}, {'connected_gene': 'GFOD1-AS1', 'score': 11.0}, {'connected_gene': 'SIRT5', 'score': 10.85}, {'connected_gene': 'RANBP9', 'score': 9.88}, {'connected_gene': 'PIR51588', 'score': 0.26}, {'connected_gene': 'GC06M013385', 'score': 0.25}, {'connected_gene': 'GC06P013360', 'score': 0.25}]
chr6 GH06I013613 13613827 13617254 2.12 [{'connected_gene': 'NOL7', 'score': 550.77}, {'connected_gene': 'ENSG00000261071', 'score': 550.77}, {'connected_gene': 'RANBP9', 'score': 7.07}, {'connected_gene': 'GC06P013623', 'score': 0.44}, {'connected_gene': 'SIRT5', 'score': 0.26}]
chr6 GH06I013671 13671645 13671939 0.97 [{'connected_gene': 'TBC1D7', 'score': 14.63}, {'connected_gene': 'CD83', 'score': 11.87}, {'connected_gene': 'RANBP9', 'score': 11.6}, {'connected_gene': 'GFOD1', 'score': 3.55}, {'connected_gene': 'GC06P013623', 'score': 0.25}]
chr6 GH06I013258 13258758 13263105 1.48 [{'connected_gene': 'TBC1D7', 'score': 21.08}, {'connected_gene': 'RNU1-11P', 'score': 12.05}, {'connected_gene': 'ENSG00000215022', 'score': 7.4}, {'connected_gene': 'PHACTR1', 'score': 6.55}, {'connected_gene': 'GFOD1', 'score': 2.23}, {'connected_gene': 'RANBP9', 'score': 1.22}, {'connected_gene': 'PIR62166', 'score': 0.34}, {'connected_gene': 'LOC105374933', 'score': 0.29}]
chr6 GH06I013723 13723508 13726962 0.77 [{'connected_gene': 'SIRT5', 'score': 9.78}, {'connected_gene': 'RANBP9', 'score': 0.39}, {'connected_gene': 'GC06P013771', 'score': 0.25}]
chr6 GH06I013702 13702874 13703637 1.21 [{'connected_gene': 'SIRT5', 'score': 10.5}, {'connected_gene': 'RANBP9', 'score': 0.44}, {'connected_gene': 'GC06P013623', 'score': 0.18}]
chr6 GH06I013747 13747749 13747898 0.54 [{'connected_gene': 'SIRT5', 'score': 5.8}, {'connected_gene': 'GC06P013771', 'score': 0.34}, {'connected_gene': 'RANBP9', 'score': 0.28}]
chr6 GH06I014067 14067791 14068433 0.49 [{'connected_gene': 'RNF182', 'score': 11.39}, {'connected_gene': 'CD83', 'score': 11.32}, {'connected_gene': 'RNU7-133P', 'score': 10.27}, {'connected_gene': 'RANBP9', 'score': 9.73}, {'connected_gene': 'LOC105374939', 'score': 0.29}, {'connected_gene': 'ENSG00000233981', 'score': 0.21}]
chr6 GH06I013760 13760307 13763732 1.12 [{'connected_gene': 'RANBP9', 'score': 11.76}, {'connected_gene': 'MCUR1', 'score': 10.8}, {'connected_gene': 'SIRT5', 'score': 9.68}, {'connected_gene': 'RNF182', 'score': 1.56}, {'connected_gene': 'GC06P013771', 'score': 0.44}]
chr6 GH06I013846 13846816 13847983 0.63 [{'connected_gene': 'RANBP9', 'score': 10.68}, {'connected_gene': 'MCUR1', 'score': 6.12}, {'connected_gene': 'ENSG00000272209', 'score': 0.34}, {'connected_gene': 'PIR49028', 'score': 0.29}]
chr6 GH06I013775 13775181 13777085 0.31 [{'connected_gene': 'RANBP9', 'score': 11.28}, {'connected_gene': 'MCUR1', 'score': 10.08}, {'connected_gene': 'GC06P013771', 'score': 0.77}, {'connected_gene': 'GC06M013786', 'score': 0.39}]
chr6 GH06I013872 13872589 13874554 1.26 [{'connected_gene': 'RANBP9', 'score': 10.38}, {'connected_gene': 'NOL7', 'score': 10.02}, {'connected_gene': 'RNF182', 'score': 9.58}, {'connected_gene': 'MCUR1', 'score': 5.75}, {'connected_gene': 'PIR49028', 'score': 0.44}, {'connected_gene': 'ENSG00000272209', 'score': 0.25}]
chr6 GH06I013708 13708088 13713473 2.58 [{'connected_gene': 'RANBP9', 'score': 564.44}, {'connected_gene': 'SIRT5', 'score': 19.51}, {'connected_gene': 'MCUR1', 'score': 5.84}, {'connected_gene': 'CD83', 'score': 1.37}, {'connected_gene': 'TBC1D7', 'score': 1.26}, {'connected_gene': 'GC06P013623', 'score': 0.17}]
chr6 GH06I013636 13636001 13636739 0.92 [{'connected_gene': 'RANBP9', 'score': 11.2}, {'connected_gene': 'SIRT5', 'score': 11.02}, {'connected_gene': 'TBC1D7', 'score': 6.46}, {'connected_gene': 'CD83', 'score': 4.73}, {'connected_gene': 'GFOD1', 'score': 1.56}, {'connected_gene': 'GC06P013623', 'score': 0.39}]
chr6 GH06I013679 13679918 13682213 1.17 [{'connected_gene': 'RANBP9', 'score': 24.06}, {'connected_gene': 'SIRT5', 'score': 5.55}, {'connected_gene': 'GC06P013623', 'score': 0.22}]
chr6 GH06I013664 13664900 13666258 0.8 [{'connected_gene': 'RANBP9', 'score': 24.11}, {'connected_gene': 'SIRT5', 'score': 9.98}, {'connected_gene': 'GC06P013623', 'score': 0.26}]
chr6 GH06I013694 13694769 13697112 0.96 [{'connected_gene': 'RANBP9', 'score': 13.03}, {'connected_gene': 'SIRT5', 'score': 10.16}, {'connected_gene': 'GC06P013623', 'score': 0.19}]
chr6 GH06I013666 13666460 13668406 1.04 [{'connected_gene': 'RANBP9', 'score': 24.18}, {'connected_gene': 'SIRT5', 'score': 9.98}, {'connected_gene': 'GC06P013623', 'score': 0.26}]
chr6 GH06I013735 13735687 13736456 0.31 [{'connected_gene': 'RANBP9', 'score': 19.46}, {'connected_gene': 'SIRT5', 'score': 18.12}, {'connected_gene': 'GC06P013771', 'score': 0.28}]
chr6 GH06I013676 13676807 13679659 1.42 [{'connected_gene': 'RANBP9', 'score': 11.61}, {'connected_gene': 'SIRT5', 'score': 4.5}, {'connected_gene': 'GC06P013623', 'score': 0.23}]
chr6 GH06I013688 13688769 13688918 1.12 [{'connected_gene': 'RANBP9', 'score': 12.58}, {'connected_gene': 'SIRT5', 'score': 9.96}, {'connected_gene': 'GC06P013623', 'score': 0.2}]
chr6 GH06I013687 13687739 13688405 0.74 [{'connected_gene': 'RANBP9', 'score': 13.23}, {'connected_gene': 'SIRT5', 'score': 9.96}, {'connected_gene': 'GC06P013623', 'score': 0.21}]
chr6 GH06I013732 13732729 13734379 1 [{'connected_gene': 'RANBP9', 'score': 20.23}, {'connected_gene': 'SIRT5', 'score': 15.14}, {'connected_gene': 'GC06P013771', 'score': 0.28}]
chr6 GH06I013795 13795001 13795600 1.12 [{'connected_gene': 'RANBP9', 'score': 11.13}, {'connected_gene': 'RNF182', 'score': 10.2}, {'connected_gene': 'RNU7-133P', 'score': 9.27}, {'connected_gene': 'MCUR1', 'score': 6.93}, {'connected_gene': 'GC06M013786', 'score': 0.77}, {'connected_gene': 'GC06P013802', 'score': 0.44}]
chr6 GH06I013845 13845111 13845253 0.22 [{'connected_gene': 'RANBP9', 'score': 10.67}, {'connected_gene': 'RNF182', 'score': 2.26}, {'connected_gene': 'ENSG00000272209', 'score': 0.37}, {'connected_gene': 'PIR49028', 'score': 0.28}]
chr6 GH06I013715 13715669 13715838 0.85 [{'connected_gene': 'RANBP9', 'score': 7.33}, {'connected_gene': 'GC06P013771', 'score': 0.22}]
chr6 GH06I013653 13653449 13653598 0.56 [{'connected_gene': 'RANBP9', 'score': 11.31}, {'connected_gene': 'GC06P013623', 'score': 0.31}]
chr6 GH06I013716 13715509 13715658 0.85 [{'connected_gene': 'RANBP9', 'score': 0.77}, {'connected_gene': 'GC06P013771', 'score': 0.22}]
chr6 GH06I013730 13729269 13729418 0.31 [{'connected_gene': 'RANBP9', 'score': 0.37}, {'connected_gene': 'GC06P013771', 'score': 0.26}]
chr6 GH06I013729 13729489 13730315 0.43 [{'connected_gene': 'RANBP9', 'score': 0.37}, {'connected_gene': 'GC06P013771', 'score': 0.26}]
chr6 GH06I013624 13624929 13625098 0.68 [{'connected_gene': 'GC06P013623', 'score': 550.77}, {'connected_gene': 'NOL7', 'score': 0.44}, {'connected_gene': 'RANBP9', 'score': 0.17}]
chr6 GH06I013621 13621501 13621722 0.4 [{'connected_gene': 'GC06P013623', 'score': 0.77}, {'connected_gene': 'NOL7', 'score': 0.44}, {'connected_gene': 'RANBP9', 'score': 0.17}]
chr6 GH06I014002 14002850 14003214 0.37 [{'connected_gene': 'ENSG00000233981', 'score': 550.77}, {'connected_gene': 'RNF182', 'score': 11.83}, {'connected_gene': 'RANBP9', 'score': 1.87}, {'connected_gene': 'GC06P013986', 'score': 0.37}]
chr6 GH06I013512 13512803 13513160 0.52 [{'connected_gene': 'PIR42580', 'score': 550.77}, {'connected_gene': 'RANBP9', 'score': 1.43}, {'connected_gene': 'GC06P013518', 'score': 0.44}]

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