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
ENST00000480212 [[160625363, 160628564], [160634448, 160634475], [160636515, 160636689], [160637392, 160637509], [160637945, 160638043], [160639869, 160639980], [160654642, 160654753]] None
ENST00000259053 [[160625363, 160628564], [160634448, 160634475], [160636515, 160636689], [160637392, 160637509], [160639869, 160639980], [160654642, 160654753]] [[160628361, 160628564], [160634448, 160634475], [160636515, 160636689], [160637392, 160637509], [160639869, 160639980], [160654642, 160654709]]
ENST00000429078 [[160628099, 160628564], [160634448, 160634475], [160637392, 160637509], [160639869, 160639980], [160654642, 160654753]] [[160628361, 160628564], [160634448, 160634475], [160637392, 160637509], [160639869, 160639980], [160654642, 160654709]]
NM_014880 [[160625138, 160628564], [160634448, 160634475], [160636515, 160636689], [160637392, 160637509], [160639869, 160639980], [160654642, 160654766]] [[160628361, 160628564], [160634448, 160634475], [160636515, 160636689], [160637392, 160637509], [160639869, 160639980], [160654642, 160654709]]
NM_001198763 [[160625138, 160628564], [160634448, 160634475], [160637392, 160637509], [160639869, 160639980], [160654642, 160654766]] [[160628361, 160628564], [160634448, 160634475], [160637392, 160637509], [160639869, 160639980], [160654642, 160654709]]
NM_001198764 [[160625138, 160628564], [160634448, 160634475], [160636515, 160636689], [160637392, 160637509], [160654642, 160654766]] [[160628361, 160628564], [160634448, 160634475], [160636515, 160636689], [160637392, 160637509], [160654642, 160654709]]
Promoter
Chrom Start End Description
chr2 160654706 160654744 CAGE_peak_1_at_CD302_5end
chr2 160654745 160654764 CAGE_peak_2_at_CD302_5end
chr2 160654889 160654912 CAGE_peak_3_at_CD302_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I159773 159773143 159775858 0.43 [{'connected_gene': 'CD302', 'score': 17.44}, {'connected_gene': 'ENSG00000226266', 'score': 13.35}, {'connected_gene': 'MARCH7', 'score': 10.04}, {'connected_gene': 'BAZ2B', 'score': 9.29}, {'connected_gene': 'ITGB6', 'score': 7.64}, {'connected_gene': 'LY75', 'score': 7.47}, {'connected_gene': 'PLA2R1', 'score': 7.25}, {'connected_gene': 'GC02P159769', 'score': 0.77}, {'connected_gene': 'LY75-CD302', 'score': 0.12}]
chr2 GH02I159762 159762934 159764204 0.2 [{'connected_gene': 'CD302', 'score': 11.18}, {'connected_gene': 'LY75', 'score': 4.28}, {'connected_gene': 'GC02P159769', 'score': 0.44}, {'connected_gene': 'MARCH7', 'score': 0.23}]
chr2 GH02I159795 159795402 159798801 2.18 [{'connected_gene': 'CD302', 'score': 555.24}, {'connected_gene': 'ENSG00000226266', 'score': 10.82}, {'connected_gene': 'ITGB6', 'score': 8.32}, {'connected_gene': 'BAZ2B', 'score': 8.29}, {'connected_gene': 'LY75', 'score': 7.45}, {'connected_gene': 'PLA2R1', 'score': 7.41}, {'connected_gene': 'MARCH7', 'score': 7.3}, {'connected_gene': 'GC02P159769', 'score': 0.31}, {'connected_gene': 'LY75-CD302', 'score': 0.14}]
chr2 GH02I159788 159788370 159788519 0.84 [{'connected_gene': 'CD302', 'score': 0.44}, {'connected_gene': 'GC02P159769', 'score': 0.37}, {'connected_gene': 'LY75-CD302', 'score': 0.13}]
chr2 GH02I159764 159764387 159767513 0.2 [{'connected_gene': 'MARCH7', 'score': 16.96}, {'connected_gene': 'ENSG00000226266', 'score': 13.52}, {'connected_gene': 'CD302', 'score': 11.96}, {'connected_gene': 'BAZ2B', 'score': 9.32}, {'connected_gene': 'LY75', 'score': 7.78}, {'connected_gene': 'PLA2R1', 'score': 7.25}, {'connected_gene': 'GC02P159769', 'score': 0.77}]
chr2 GH02I159771 159771505 159772751 0.2 [{'connected_gene': 'MARCH7', 'score': 16.78}, {'connected_gene': 'ENSG00000226266', 'score': 13.37}, {'connected_gene': 'CD302', 'score': 12.0}, {'connected_gene': 'BAZ2B', 'score': 9.3}, {'connected_gene': 'ITGB6', 'score': 7.64}, {'connected_gene': 'PLA2R1', 'score': 7.25}, {'connected_gene': 'LY75', 'score': 6.23}, {'connected_gene': 'GC02P159769', 'score': 0.77}, {'connected_gene': 'LY75-CD302', 'score': 0.12}]
chr2 GH02I159744 159744167 159745267 0.38 [{'connected_gene': 'MARCH7', 'score': 17.07}, {'connected_gene': 'ENSG00000226266', 'score': 14.07}, {'connected_gene': 'CD302', 'score': 11.03}, {'connected_gene': 'BAZ2B', 'score': 9.39}, {'connected_gene': 'PLA2R1', 'score': 7.56}, {'connected_gene': 'LY75', 'score': 5.53}, {'connected_gene': 'GC02P159769', 'score': 0.31}]
chr2 GH02I159786 159786692 159787829 0.31 [{'connected_gene': 'MARCH7', 'score': 16.75}, {'connected_gene': 'CD302', 'score': 0.39}, {'connected_gene': 'GC02P159769', 'score': 0.37}, {'connected_gene': 'LY75-CD302', 'score': 0.13}]
chr2 GH02I159737 159737581 159739273 0.56 [{'connected_gene': 'MARCH7', 'score': 14.62}, {'connected_gene': 'ENSG00000226266', 'score': 13.48}, {'connected_gene': 'BAZ2B', 'score': 9.9}, {'connected_gene': 'CD302', 'score': 7.45}, {'connected_gene': 'LY75', 'score': 7.45}, {'connected_gene': 'PLA2R1', 'score': 7.24}, {'connected_gene': 'GC02P159769', 'score': 0.29}]
chr2 GH02I159747 159747933 159748949 0.31 [{'connected_gene': 'MARCH7', 'score': 13.58}, {'connected_gene': 'BAZ2B', 'score': 8.99}, {'connected_gene': 'CD302', 'score': 7.48}, {'connected_gene': 'GC02P159769', 'score': 0.34}]
chr2 GH02I159801 159801601 159802600 0.76 [{'connected_gene': 'MARCH7', 'score': 12.33}, {'connected_gene': 'BAZ2B', 'score': 8.43}, {'connected_gene': 'LOC643072', 'score': 7.54}, {'connected_gene': 'CD302', 'score': 0.77}, {'connected_gene': 'ENSG00000227055', 'score': 0.39}, {'connected_gene': 'LY75-CD302', 'score': 0.15}]
chr2 GH02I159777 159777797 159779175 0.31 [{'connected_gene': 'MARCH7', 'score': 16.72}, {'connected_gene': 'ENSG00000226266', 'score': 13.43}, {'connected_gene': 'BAZ2B', 'score': 9.15}, {'connected_gene': 'LY75', 'score': 7.1}, {'connected_gene': 'GC02P159769', 'score': 0.44}, {'connected_gene': 'CD302', 'score': 0.37}, {'connected_gene': 'LY75-CD302', 'score': 0.13}]
chr2 GH02I159782 159782366 159786464 0.38 [{'connected_gene': 'MARCH7', 'score': 16.72}, {'connected_gene': 'BAZ2B', 'score': 9.29}, {'connected_gene': 'PLA2R1', 'score': 7.02}, {'connected_gene': 'LOC643072', 'score': 6.95}, {'connected_gene': 'LY75', 'score': 5.91}, {'connected_gene': 'OR7E28P', 'score': 4.27}, {'connected_gene': 'GC02P159769', 'score': 0.39}, {'connected_gene': 'CD302', 'score': 0.39}, {'connected_gene': 'LY75-CD302', 'score': 0.13}]
chr2 GH02I159792 159792801 159794200 0.4 [{'connected_gene': 'LY75', 'score': 4.86}, {'connected_gene': 'CD302', 'score': 0.77}, {'connected_gene': 'GC02P159769', 'score': 0.34}, {'connected_gene': 'LY75-CD302', 'score': 0.14}]
chr2 GH02I160201 160201978 160211816 1.58 [{'connected_gene': 'LY75', 'score': 19.1}, {'connected_gene': 'ITGB6', 'score': 17.61}, {'connected_gene': 'LINC02478', 'score': 11.47}, {'connected_gene': 'RBMS1', 'score': 11.32}, {'connected_gene': 'ENSG00000226266', 'score': 5.98}, {'connected_gene': 'PLA2R1', 'score': 5.61}, {'connected_gene': 'CD302', 'score': 1.55}, {'connected_gene': 'PIR61464', 'score': 0.22}]
chr2 GH02I159855 159855401 159856073 0.44 [{'connected_gene': 'LY75', 'score': 20.17}, {'connected_gene': 'BAZ2B', 'score': 14.03}, {'connected_gene': 'MARCH7', 'score': 7.98}, {'connected_gene': 'CD302', 'score': 4.53}, {'connected_gene': 'ENSG00000227055', 'score': 0.26}, {'connected_gene': 'LY75-CD302', 'score': 0.25}]
chr2 GH02I159496 159496601 159498322 1.52 [{'connected_gene': 'ITGB6', 'score': 6.72}, {'connected_gene': 'LOC643072', 'score': 6.45}, {'connected_gene': 'CD302', 'score': 2.45}, {'connected_gene': 'MARCH7', 'score': 1.87}, {'connected_gene': 'ENSG00000225369', 'score': 0.29}, {'connected_gene': 'LOC100422294', 'score': 0.29}, {'connected_gene': 'ENSG00000207117', 'score': 0.28}, {'connected_gene': 'BAZ2B', 'score': 0.08}]
chr2 GH02I160219 160219278 160230701 1.62 [{'connected_gene': 'ITGB6', 'score': 24.6}, {'connected_gene': 'LY75', 'score': 17.99}, {'connected_gene': 'PLA2R1', 'score': 11.97}, {'connected_gene': 'LINC02478', 'score': 11.72}, {'connected_gene': 'RBMS1', 'score': 11.53}, {'connected_gene': 'CD302', 'score': 5.76}, {'connected_gene': 'PIR61464', 'score': 0.28}]
chr2 GH02I160287 160287342 160295838 1.32 [{'connected_gene': 'ITGB6', 'score': 24.93}, {'connected_gene': 'PLA2R1', 'score': 13.09}, {'connected_gene': 'RBMS1', 'score': 12.16}, {'connected_gene': 'CD302', 'score': 3.33}, {'connected_gene': 'LINC02478', 'score': 0.37}, {'connected_gene': 'GC02M160337', 'score': 0.25}]
chr2 GH02I159515 159515229 159517180 1.83 [{'connected_gene': 'BAZ2B', 'score': 15.59}, {'connected_gene': 'MARCH7', 'score': 9.55}, {'connected_gene': 'CD302', 'score': 6.12}, {'connected_gene': 'LY75', 'score': 1.7}, {'connected_gene': 'ENSG00000207117', 'score': 0.34}, {'connected_gene': 'LOC100422294', 'score': 0.23}, {'connected_gene': 'ENSG00000225369', 'score': 0.23}]
chr2 GH02I159494 159494139 159494495 0.22 [{'connected_gene': 'BAZ2B', 'score': 2.43}, {'connected_gene': 'MARCH7', 'score': 1.68}, {'connected_gene': 'CD302', 'score': 1.57}, {'connected_gene': 'LOC100422294', 'score': 0.29}, {'connected_gene': 'ENSG00000225369', 'score': 0.29}, {'connected_gene': 'ENSG00000207117', 'score': 0.26}]
chr2 GH02I159710 159710490 159715511 2.33 [{'connected_gene': 'BAZ2B', 'score': 594.14}, {'connected_gene': 'ENSG00000226266', 'score': 584.01}, {'connected_gene': 'MARCH7', 'score': 582.53}, {'connected_gene': 'LOC643072', 'score': 20.46}, {'connected_gene': 'LY75', 'score': 11.75}, {'connected_gene': 'CD302', 'score': 11.19}, {'connected_gene': 'PLA2R1', 'score': 7.24}, {'connected_gene': 'GC02P159769', 'score': 0.22}]
chr2 GH02I159790 159790369 159790579 0.68 [{'connected_gene': 'BAZ2B', 'score': 8.44}, {'connected_gene': 'MARCH7', 'score': 7.75}, {'connected_gene': 'LY75', 'score': 4.86}, {'connected_gene': 'CD302', 'score': 0.44}, {'connected_gene': 'GC02P159769', 'score': 0.34}, {'connected_gene': 'LY75-CD302', 'score': 0.14}]
chr2 GH02I159753 159753781 159756838 0.96 [{'connected_gene': 'BAZ2B', 'score': 18.77}, {'connected_gene': 'WDSUB1', 'score': 14.7}, {'connected_gene': 'CD302', 'score': 7.5}, {'connected_gene': 'PLA2R1', 'score': 7.24}, {'connected_gene': 'LY75', 'score': 5.54}, {'connected_gene': 'GC02P159769', 'score': 0.39}, {'connected_gene': 'MARCH7', 'score': 0.26}]
chr2 GH02I159285 159285451 159287740 2.06 [{'connected_gene': 'WDSUB1', 'score': 585.85}, {'connected_gene': 'PLA2R1', 'score': 13.48}, {'connected_gene': 'MARCH7', 'score': 12.15}, {'connected_gene': 'BAZ2B', 'score': 10.27}, {'connected_gene': 'CD302', 'score': 4.44}, {'connected_gene': 'LY75', 'score': 4.08}, {'connected_gene': 'LOC105373716', 'score': 0.23}]
chr2 GH02I159767 159767877 159770847 0.49 [{'connected_gene': 'GC02P159769', 'score': 550.77}, {'connected_gene': 'MARCH7', 'score': 16.74}, {'connected_gene': 'CD302', 'score': 11.7}, {'connected_gene': 'ENSG00000226266', 'score': 11.05}, {'connected_gene': 'BAZ2B', 'score': 9.09}, {'connected_gene': 'PLA2R1', 'score': 7.75}, {'connected_gene': 'ITGB6', 'score': 7.08}, {'connected_gene': 'LY75', 'score': 6.23}, {'connected_gene': 'LY75-CD302', 'score': 0.12}]
chr2 GH02I159362 159362295 159364333 1.06 [{'connected_gene': 'ENSG00000223642', 'score': 10.92}, {'connected_gene': 'ITGB6', 'score': 5.77}, {'connected_gene': 'LY75', 'score': 4.74}, {'connected_gene': 'OR7E28P', 'score': 4.04}, {'connected_gene': 'CD302', 'score': 3.56}, {'connected_gene': 'MARCH7', 'score': 1.95}, {'connected_gene': 'WDSUB1', 'score': 0.18}, {'connected_gene': 'BAZ2B', 'score': 0.05}]