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
ENST00000491129 [[49890016, 49890110], [49940713, 49940811], [50022937, 50023115], [50095780, 50096020]] None
ENST00000465922 [[49890073, 49890110], [49940713, 49940811], [49975346, 49975757]] None
ENST00000046087 [[49977036, 49977218], [50022937, 50023115], [50057835, 50057912], [50070687, 50070906], [50097584, 50097737], [50121369, 50121495], [50129224, 50129305], [50132663, 50132860]] [[49977123, 49977218], [50022937, 50023115], [50057835, 50057912], [50070687, 50070906], [50097584, 50097737], [50121369, 50121495], [50129224, 50129305], [50132663, 50132790]]
ENST00000419417 [[49977123, 49977218], [50022937, 50023115], [50057835, 50057912], [50070687, 50070906], [50097584, 50097734], [50121369, 50121495], [50129224, 50129305], [50132663, 50132832]] [[49977123, 49977218], [50022937, 50023115], [50057835, 50057912], [50070687, 50070906], [50097584, 50097734], [50121369, 50121495], [50129224, 50129305], [50132663, 50132790]]
ENST00000450231 [[50121369, 50121495], [50129224, 50129305], [50156848, 50157015], [50159803, 50159992], [50160899, 50160925]] [[50121369, 50121495], [50129224, 50129305], [50156848, 50156858]]
ENST00000413331 [[50121455, 50121495], [50129224, 50129305], [50132458, 50132828]] [[50132562, 50132790]]
NM_007009 [[49977022, 49977218], [50022937, 50023115], [50057835, 50057912], [50070687, 50070906], [50097584, 50097737], [50121369, 50121495], [50129224, 50129305], [50132663, 50132860]] [[49977123, 49977218], [50022937, 50023115], [50057835, 50057912], [50070687, 50070906], [50097584, 50097737], [50121369, 50121495], [50129224, 50129305], [50132663, 50132790]]
NM_001159878 [[49977022, 49977218], [50022937, 50023115], [50057835, 50057912], [50070687, 50070906], [50097584, 50097734], [50121369, 50121495], [50129224, 50129305], [50132663, 50132860]] [[49977123, 49977218], [50022937, 50023115], [50057835, 50057912], [50070687, 50070906], [50097584, 50097734], [50121369, 50121495], [50129224, 50129305], [50132663, 50132790]]
Promoter
Chrom Start End Description
chr7 50095984 50095989 CAGE_peak_5_at_ZPBP_5end
chr7 50096016 50096027 CAGE_peak_3_at_ZPBP_5end
chr7 50096029 50096038 CAGE_peak_4_at_ZPBP_5end
chr7 50132801 50132851 CAGE_peak_1_at_ZPBP_5end
chr7 50132862 50132871 CAGE_peak_2_at_ZPBP_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr7 GH07I050370 50370901 50375600 0.31 [{'connected_gene': 'FIGNL1', 'score': 12.12}, {'connected_gene': 'ENSG00000228005', 'score': 12.02}, {'connected_gene': 'ZPBP', 'score': 10.15}, {'connected_gene': 'GC07P050382', 'score': 0.44}, {'connected_gene': 'IKZF1', 'score': 0.2}]
chr7 GH07I050392 50392168 50399154 1.13 [{'connected_gene': 'FIGNL1', 'score': 46.87}, {'connected_gene': 'ENSG00000228005', 'score': 10.77}, {'connected_gene': 'ZPBP', 'score': 10.41}, {'connected_gene': 'SPATA48', 'score': 10.41}, {'connected_gene': 'IKZF1', 'score': 3.03}, {'connected_gene': 'GC07P050382', 'score': 0.39}, {'connected_gene': 'GC07P050435', 'score': 0.28}]
chr7 GH07I050404 50404536 50408172 0.89 [{'connected_gene': 'FIGNL1', 'score': 48.33}, {'connected_gene': 'ZPBP', 'score': 10.89}, {'connected_gene': 'SPATA48', 'score': 10.89}, {'connected_gene': 'GC07P050382', 'score': 0.34}, {'connected_gene': 'GC07P050435', 'score': 0.31}, {'connected_gene': 'IKZF1', 'score': 0.15}]
chr7 GH07I050389 50389319 50390344 0.31 [{'connected_gene': 'FIGNL1', 'score': 47.47}, {'connected_gene': 'ZPBP', 'score': 10.07}, {'connected_gene': 'SPATA48', 'score': 10.06}, {'connected_gene': 'GC07P050382', 'score': 0.44}, {'connected_gene': 'GC07P050435', 'score': 0.25}, {'connected_gene': 'IKZF1', 'score': 0.17}]
chr7 GH07I050425 50425965 50427681 0.2 [{'connected_gene': 'FIGNL1', 'score': 36.76}, {'connected_gene': 'ZPBP', 'score': 9.91}, {'connected_gene': 'SPATA48', 'score': 9.63}, {'connected_gene': 'GC07P050435', 'score': 0.44}, {'connected_gene': 'GC07P050382', 'score': 0.26}]
chr7 GH07I050409 50409068 50412113 1.4 [{'connected_gene': 'FIGNL1', 'score': 46.56}, {'connected_gene': 'RNU6-1091P', 'score': 12.58}, {'connected_gene': 'ENSG00000228005', 'score': 11.48}, {'connected_gene': 'ZPBP', 'score': 10.91}, {'connected_gene': 'IKZF1', 'score': 1.8}, {'connected_gene': 'GC07P050435', 'score': 0.34}, {'connected_gene': 'GC07P050382', 'score': 0.31}]
chr7 GH07I049852 49852725 49852914 0.56 [{'connected_gene': 'VWC2', 'score': 0.18}, {'connected_gene': 'GNL2P1', 'score': 0.16}, {'connected_gene': 'ZPBP', 'score': 0.06}]
chr7 GH07I049855 49855219 49855623 0.2 [{'connected_gene': 'VWC2', 'score': 0.18}, {'connected_gene': 'GNL2P1', 'score': 0.17}, {'connected_gene': 'ZPBP', 'score': 0.06}]
chr7 GH07I050683 50683942 50686346 1.09 [{'connected_gene': 'GRB10', 'score': 11.77}, {'connected_gene': 'ZPBP', 'score': 9.62}, {'connected_gene': 'PIR54882', 'score': 0.39}, {'connected_gene': 'GC07P050783', 'score': 0.15}]
chr7 GH07I050390 50390775 50391931 0.2 [{'connected_gene': 'ZPBP', 'score': 10.06}, {'connected_gene': 'SPATA48', 'score': 10.06}, {'connected_gene': 'GC07P050382', 'score': 0.44}, {'connected_gene': 'GC07P050435', 'score': 0.26}, {'connected_gene': 'IKZF1', 'score': 0.17}]
chr7 GH07I050092 50092145 50094510 1.74 [{'connected_gene': 'ZPBP', 'score': 557.41}, {'connected_gene': 'SPATA48', 'score': 0.77}, {'connected_gene': 'GNL2P1', 'score': 0.11}]
chr7 GH07I050156 50156514 50157388 0.51 [{'connected_gene': 'ZPBP', 'score': 10.61}, {'connected_gene': 'SPATA48', 'score': 10.51}, {'connected_gene': 'ENSG00000228005', 'score': 0.39}, {'connected_gene': 'ENSG00000231681', 'score': 0.14}]
chr7 GH07I050375 50375655 50377758 0.2 [{'connected_gene': 'RNU6-1091P', 'score': 11.43}, {'connected_gene': 'ENSG00000228005', 'score': 11.34}, {'connected_gene': 'ZPBP', 'score': 10.12}, {'connected_gene': 'SPATA48', 'score': 10.11}, {'connected_gene': 'FIGNL1', 'score': 7.78}, {'connected_gene': 'GC07P050382', 'score': 0.44}, {'connected_gene': 'IKZF1', 'score': 0.19}]
chr7 GH07I050378 50378643 50380235 0.89 [{'connected_gene': 'RNU6-1091P', 'score': 11.43}, {'connected_gene': 'ENSG00000228005', 'score': 11.33}, {'connected_gene': 'ZPBP', 'score': 10.12}, {'connected_gene': 'SPATA48', 'score': 10.11}, {'connected_gene': 'GC07P050382', 'score': 0.77}, {'connected_gene': 'IKZF1', 'score': 0.18}]
chr7 GH07I050341 50341402 50370192 1.74 [{'connected_gene': 'IKZF1', 'score': 18.52}, {'connected_gene': 'FIGNL1', 'score': 17.94}, {'connected_gene': 'ENSG00000228005', 'score': 12.2}, {'connected_gene': 'ZPBP', 'score': 10.37}, {'connected_gene': 'GC07P050382', 'score': 0.31}]
chr7 GH07I049866 49866465 49866574 0.31 [{'connected_gene': 'GNL2P1', 'score': 0.18}, {'connected_gene': 'VWC2', 'score': 0.16}, {'connected_gene': 'ZPBP', 'score': 0.07}]
chr7 GH07I050145 50145689 50150761 0.99 [{'connected_gene': 'SPATA48', 'score': 29.96}, {'connected_gene': 'ZPBP', 'score': 17.59}, {'connected_gene': 'IKZF1', 'score': 4.09}, {'connected_gene': 'ENSG00000228005', 'score': 0.44}, {'connected_gene': 'ENSG00000231681', 'score': 0.14}]
chr7 GH07I050067 50067658 50070623 0.83 [{'connected_gene': 'SPATA48', 'score': 29.1}, {'connected_gene': 'ZPBP', 'score': 18.26}, {'connected_gene': 'GNL2P1', 'score': 0.13}]
chr7 GH07I050070 50070894 50070903 0.2 [{'connected_gene': 'SPATA48', 'score': 0.34}, {'connected_gene': 'ZPBP', 'score': 0.23}, {'connected_gene': 'GNL2P1', 'score': 0.13}]
chr7 GH07I050003 50003761 50004021 0.22 [{'connected_gene': 'SPATA48', 'score': 6.45}, {'connected_gene': 'GNL2P1', 'score': 0.22}, {'connected_gene': 'ZPBP', 'score': 0.13}]
chr7 GH07I050382 50382703 50386209 0.2 [{'connected_gene': 'GC07P050382', 'score': 550.77}, {'connected_gene': 'FIGNL1', 'score': 21.81}, {'connected_gene': 'ENSG00000228005', 'score': 11.88}, {'connected_gene': 'RNU6-1091P', 'score': 11.44}, {'connected_gene': 'ZPBP', 'score': 10.46}, {'connected_gene': 'SPATA48', 'score': 10.45}, {'connected_gene': 'DDC', 'score': 9.26}, {'connected_gene': 'GC07P050435', 'score': 0.23}, {'connected_gene': 'IKZF1', 'score': 0.18}]
chr7 GH07I050670 50670638 50674138 0.2 [{'connected_gene': 'PIR54882', 'score': 550.77}, {'connected_gene': 'GRB10', 'score': 17.34}, {'connected_gene': 'FIGNL1', 'score': 11.36}, {'connected_gene': 'DDC', 'score': 9.9}, {'connected_gene': 'ZPBP', 'score': 9.66}, {'connected_gene': 'PIR42465', 'score': 0.44}]
chr7 GH07I050674 50674206 50676457 0.2 [{'connected_gene': 'PIR54882', 'score': 550.77}, {'connected_gene': 'GRB10', 'score': 16.05}, {'connected_gene': 'FIGNL1', 'score': 11.34}, {'connected_gene': 'ZPBP', 'score': 9.47}, {'connected_gene': 'GC07P050783', 'score': 0.14}]
chr7 GH07I050293 50293452 50294868 0.84 [{'connected_gene': 'GC07P050292', 'score': 550.77}, {'connected_gene': 'ENSG00000228005', 'score': 10.62}, {'connected_gene': 'ZPBP', 'score': 9.5}, {'connected_gene': 'SPATA48', 'score': 9.49}, {'connected_gene': 'IKZF1', 'score': 4.72}]
chr7 GH07I050301 50301037 50301165 0.42 [{'connected_gene': 'ENSG00000228005', 'score': 10.62}, {'connected_gene': 'ZPBP', 'score': 9.5}, {'connected_gene': 'SPATA48', 'score': 9.48}, {'connected_gene': 'IKZF1', 'score': 6.49}, {'connected_gene': 'GC07P050292', 'score': 0.44}]
chr7 GH07I050179 50179868 50180692 0.6 [{'connected_gene': 'ENSG00000228005', 'score': 12.9}, {'connected_gene': 'ZPBP', 'score': 10.85}, {'connected_gene': 'SPATA48', 'score': 10.8}, {'connected_gene': 'ENSG00000231681', 'score': 0.18}]
chr7 GH07I050185 50185385 50185534 0.2 [{'connected_gene': 'ENSG00000228005', 'score': 12.89}, {'connected_gene': 'ZPBP', 'score': 10.84}, {'connected_gene': 'SPATA48', 'score': 10.79}, {'connected_gene': 'ENSG00000231681', 'score': 0.18}]
chr7 GH07I050182 50182845 50182994 0.38 [{'connected_gene': 'ENSG00000228005', 'score': 12.89}, {'connected_gene': 'ZPBP', 'score': 10.84}, {'connected_gene': 'SPATA48', 'score': 10.79}, {'connected_gene': 'ENSG00000231681', 'score': 0.18}]
chr7 GH07I050142 50142465 50142614 0.54 [{'connected_gene': 'ENSG00000228005', 'score': 550.77}, {'connected_gene': 'ZPBP', 'score': 6.65}, {'connected_gene': 'SPATA48', 'score': 0.25}]
chr7 GH07I050381 50381734 50382493 0.8 [{'connected_gene': 'GC07P050382', 'score': 550.77}, {'connected_gene': 'RNU6-1091P', 'score': 11.44}, {'connected_gene': 'ENSG00000228005', 'score': 11.33}, {'connected_gene': 'ZPBP', 'score': 10.11}, {'connected_gene': 'SPATA48', 'score': 10.11}, {'connected_gene': 'IKZF1', 'score': 0.18}]
chr7 GH07I050380 50380241 50381486 0.2 [{'connected_gene': 'GC07P050382', 'score': 550.77}, {'connected_gene': 'RNU6-1091P', 'score': 11.44}, {'connected_gene': 'ENSG00000228005', 'score': 11.33}, {'connected_gene': 'ZPBP', 'score': 10.12}, {'connected_gene': 'SPATA48', 'score': 10.11}, {'connected_gene': 'IKZF1', 'score': 0.18}]
chr7 GH07I050166 50166885 50168334 0.31 [{'connected_gene': 'ENSG00000228005', 'score': 11.95}, {'connected_gene': 'IKZF1', 'score': 10.68}, {'connected_gene': 'ZPBP', 'score': 10.0}, {'connected_gene': 'SPATA48', 'score': 5.13}, {'connected_gene': 'ENSG00000231681', 'score': 0.15}]
chr7 GH07I050204 50204492 50204960 0.2 [{'connected_gene': 'ENSG00000228005', 'score': 12.28}, {'connected_gene': 'IKZF1', 'score': 11.94}, {'connected_gene': 'ZPBP', 'score': 10.13}, {'connected_gene': 'ENSG00000231681', 'score': 0.22}]