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
ENST00000519685 [[22844929, 22845076], [22849580, 22849693], [22852073, 22852152], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22875954]] [[22852096, 22852152], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22874982]]
ENST00000524077 [[22844994, 22845076], [22849543, 22849693], [22852073, 22852152], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658]] [[22852096, 22852152], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658]]
ENST00000518534 [[22849609, 22849693], [22852073, 22852152], [22856435, 22856674]] None
ENST00000522948 [[22853353, 22853395], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22877705]] [[22853384, 22853395], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22874982]]
ENST00000251822 [[22857091, 22857618], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22877712]] [[22861947, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22874982]]
ENST00000517528 [[22857441, 22857618], [22861937, 22862357]] None
ENST00000523918 [[22861556, 22861656], [22861937, 22862139], [22862884, 22862988], [22863472, 22863642]] None
ENST00000519210 [[22865351, 22865624], [22868050, 22868154]] None
NM_001160036 [[22844929, 22845076], [22849580, 22849693], [22852073, 22852152], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22877710]] [[22852096, 22852152], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22874982]]
NM_001160037 [[22853360, 22853395], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22877710]] [[22853384, 22853395], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22874982]]
NM_015178 [[22857091, 22857618], [22861937, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22877710]] [[22861947, 22862139], [22862884, 22862988], [22863472, 22863658], [22864240, 22865259], [22865505, 22865624], [22868050, 22868201], [22872202, 22872291], [22873150, 22873256], [22874764, 22874982]]
Promoter
Chrom Start End Description
chr8 22844757 22844771 CAGE_peak_11_at_RHOBTB2_5end
chr8 22844791 22844808 CAGE_peak_16_at_RHOBTB2_5end
chr8 22844824 22844832 CAGE_peak_23_at_RHOBTB2_5end
chr8 22844858 22844865 CAGE_peak_27_at_RHOBTB2_5end
chr8 22844879 22844887 CAGE_peak_29_at_RHOBTB2_5end
chr8 22844913 22844935 CAGE_peak_13_at_RHOBTB2_5end
chr8 22844948 22844964 CAGE_peak_17_at_RHOBTB2_5end
chr8 22844997 22845008 CAGE_peak_12_at_RHOBTB2_5end
chr8 22845010 22845020 CAGE_peak_18_at_RHOBTB2_5end
chr8 22853345 22853366 CAGE_peak_15_at_RHOBTB2_5end
chr8 22857048 22857082 CAGE_peak_1_at_RHOBTB2_5end
chr8 22857140 22857168 CAGE_peak_4_at_RHOBTB2_5end
chr8 22857171 22857223 CAGE_peak_2_at_RHOBTB2_5end
chr8 22857305 22857316 CAGE_peak_10_at_RHOBTB2_5end
chr8 22857326 22857343 CAGE_peak_6_at_RHOBTB2_5end
chr8 22857351 22857368 CAGE_peak_7_at_RHOBTB2_5end
chr8 22857380 22857395 CAGE_peak_5_at_RHOBTB2_5end
chr8 22857399 22857455 CAGE_peak_3_at_RHOBTB2_5end
chr8 22861538 22861557 CAGE_peak_14_at_RHOBTB2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I023409 23409126 23412562 1.3 [{'connected_gene': 'ENTPD4', 'score': 21.04}, {'connected_gene': 'ENSG00000253390', 'score': 16.51}, {'connected_gene': 'R3HCC1', 'score': 11.44}, {'connected_gene': 'CHMP7', 'score': 11.43}, {'connected_gene': 'LOXL2', 'score': 8.59}, {'connected_gene': 'SLC25A37', 'score': 5.66}, {'connected_gene': 'RHOBTB2', 'score': 5.32}, {'connected_gene': 'PIR45078', 'score': 0.34}]
chr8 GH08I023049 23049063 23051057 1.22 [{'connected_gene': 'TNFRSF10B', 'score': 18.96}, {'connected_gene': 'RHOBTB2', 'score': 11.08}, {'connected_gene': 'LOC286059', 'score': 0.37}, {'connected_gene': 'PIR57431', 'score': 0.34}]
chr8 GH08I022638 22638693 22645641 1.17 [{'connected_gene': 'BIN3-IT1', 'score': 550.77}, {'connected_gene': 'C8orf58', 'score': 41.93}, {'connected_gene': 'ENSG00000253200', 'score': 17.84}, {'connected_gene': 'CCAR2', 'score': 17.8}, {'connected_gene': 'BIN3', 'score': 11.94}, {'connected_gene': 'ENSG00000248235', 'score': 10.98}, {'connected_gene': 'PDLIM2', 'score': 10.96}, {'connected_gene': 'LOC101929237', 'score': 10.5}, {'connected_gene': 'RHOBTB2', 'score': 10.38}, {'connected_gene': 'GC08P022638', 'score': 0.77}]
chr8 GH08I022943 22943868 22944017 0.56 [{'connected_gene': 'FAM160B2', 'score': 17.19}, {'connected_gene': 'ENSG00000253200', 'score': 12.16}, {'connected_gene': 'RHOBTB2', 'score': 11.6}, {'connected_gene': 'BMP1', 'score': 11.53}, {'connected_gene': 'SORBS3', 'score': 11.49}, {'connected_gene': 'PEBP4', 'score': 11.3}, {'connected_gene': 'LOC101929237', 'score': 10.64}, {'connected_gene': 'POLR3D', 'score': 10.57}, {'connected_gene': 'GC08P022948', 'score': 0.44}, {'connected_gene': 'ENSG00000253142', 'score': 0.25}]
chr8 GH08I022863 22863928 22866197 1.1 [{'connected_gene': 'CCAR2', 'score': 21.52}, {'connected_gene': 'ENSG00000253200', 'score': 18.07}, {'connected_gene': 'FAM160B2', 'score': 15.4}, {'connected_gene': 'POLR3D', 'score': 14.7}, {'connected_gene': 'C8orf58', 'score': 12.56}, {'connected_gene': 'XPO7', 'score': 10.89}, {'connected_gene': 'BIN3', 'score': 10.55}, {'connected_gene': 'RHOBTB2', 'score': 10.41}, {'connected_gene': 'ENTPD4', 'score': 10.24}, {'connected_gene': 'SORBS3', 'score': 10.09}, {'connected_gene': 'ENSG00000251034', 'score': 9.96}, {'connected_gene': 'LOC101929237', 'score': 0.39}, {'connected_gene': 'GC08P022845', 'score': 0.37}, {'connected_gene': 'PEBP4', 'score': 0.12}]
chr8 GH08I023063 23063262 23066178 1.01 [{'connected_gene': 'RHOBTB2', 'score': 11.43}, {'connected_gene': 'TNFRSF10B', 'score': 9.43}, {'connected_gene': 'TNFRSF10C', 'score': 6.03}, {'connected_gene': 'LOC286059', 'score': 0.77}, {'connected_gene': 'PIR57431', 'score': 0.28}]
chr8 GH08I022979 22979911 22991891 2.07 [{'connected_gene': 'RHOBTB2', 'score': 557.91}, {'connected_gene': 'ENSG00000253200', 'score': 25.69}, {'connected_gene': 'FAM160B2', 'score': 17.94}, {'connected_gene': 'C8orf58', 'score': 16.14}, {'connected_gene': 'ENTPD4', 'score': 13.87}, {'connected_gene': 'LOC107986927', 'score': 12.68}, {'connected_gene': 'BIN3', 'score': 11.42}, {'connected_gene': 'LOXL2', 'score': 10.7}, {'connected_gene': 'CHMP7', 'score': 10.51}, {'connected_gene': 'BMP1', 'score': 10.49}, {'connected_gene': 'LOC101929237', 'score': 10.4}, {'connected_gene': 'PEBP4', 'score': 6.24}, {'connected_gene': 'TNFRSF10B', 'score': 1.69}, {'connected_gene': 'RN7SL303P', 'score': 0.44}]
chr8 GH08I022996 22996606 22996882 0.67 [{'connected_gene': 'RHOBTB2', 'score': 18.76}, {'connected_gene': 'EGR3', 'score': 6.29}, {'connected_gene': 'PEBP4', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.34}]
chr8 GH08I022784 22784686 22785118 0.39 [{'connected_gene': 'RHOBTB2', 'score': 5.36}, {'connected_gene': 'EGR3', 'score': 3.36}, {'connected_gene': 'GC08M022746', 'score': 0.37}, {'connected_gene': 'LOC105379325', 'score': 0.29}, {'connected_gene': 'ENSG00000253125', 'score': 0.16}, {'connected_gene': 'PEBP4', 'score': 0.08}]
chr8 GH08I022998 22998708 23004619 2.57 [{'connected_gene': 'RHOBTB2', 'score': 558.98}, {'connected_gene': 'PEBP4', 'score': 550.77}, {'connected_gene': 'EGR3', 'score': 5.1}, {'connected_gene': 'ENSG00000251034', 'score': 4.92}, {'connected_gene': 'PIR37908', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.37}]
chr8 GH08I022992 22992371 22993141 0.2 [{'connected_gene': 'RHOBTB2', 'score': 0.44}, {'connected_gene': 'PEBP4', 'score': 0.44}, {'connected_gene': 'LOC107986927', 'score': 0.31}]
chr8 GH08I022994 22994035 22996050 1.52 [{'connected_gene': 'RHOBTB2', 'score': 550.44}, {'connected_gene': 'PEBP4', 'score': 6.77}, {'connected_gene': 'ENSG00000251034', 'score': 4.37}, {'connected_gene': 'LOC107986927', 'score': 0.34}]
chr8 GH08I022991 22991928 22992077 0.69 [{'connected_gene': 'RHOBTB2', 'score': 0.77}, {'connected_gene': 'PEBP4', 'score': 0.44}, {'connected_gene': 'LOC107986927', 'score': 0.31}]
chr8 GH08I022941 22941773 22942276 0.2 [{'connected_gene': 'RHOBTB2', 'score': 11.59}, {'connected_gene': 'PEBP4', 'score': 11.3}, {'connected_gene': 'LOC101929237', 'score': 10.65}, {'connected_gene': 'GC08P022948', 'score': 0.44}, {'connected_gene': 'ENSG00000253142', 'score': 0.26}]
chr8 GH08I022953 22953400 22954417 1.09 [{'connected_gene': 'RHOBTB2', 'score': 11.95}, {'connected_gene': 'PEBP4', 'score': 4.66}, {'connected_gene': 'PIR56864', 'score': 0.77}, {'connected_gene': 'GC08M022963', 'score': 0.39}]
chr8 GH08I023012 23012106 23015233 1 [{'connected_gene': 'RHOBTB2', 'score': 11.49}, {'connected_gene': 'LOC101929237', 'score': 10.07}, {'connected_gene': 'GC08P023010', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.44}, {'connected_gene': 'PIR51638', 'score': 0.44}, {'connected_gene': 'TNFRSF10B', 'score': 0.22}]
chr8 GH08I023015 23015237 23015301 0.6 [{'connected_gene': 'RHOBTB2', 'score': 11.49}, {'connected_gene': 'LOC101929237', 'score': 10.07}, {'connected_gene': 'LOC107986927', 'score': 0.77}, {'connected_gene': 'PIR51638', 'score': 0.77}, {'connected_gene': 'GC08P023010', 'score': 0.44}, {'connected_gene': 'TNFRSF10B', 'score': 0.23}]
chr8 GH08I023041 23041982 23042939 0.51 [{'connected_gene': 'PEBP4', 'score': 11.73}, {'connected_gene': 'RHOBTB2', 'score': 11.69}, {'connected_gene': 'PIR57431', 'score': 0.39}, {'connected_gene': 'TNFRSF10B', 'score': 0.31}, {'connected_gene': 'LOC286059', 'score': 0.31}]
chr8 GH08I022920 22920947 22923892 1.1 [{'connected_gene': 'PEBP4', 'score': 44.48}, {'connected_gene': 'RHOBTB2', 'score': 11.2}, {'connected_gene': 'LOC101929237', 'score': 10.63}, {'connected_gene': 'BIN3', 'score': 10.38}, {'connected_gene': 'CHMP7', 'score': 1.65}, {'connected_gene': 'ENSG00000253142', 'score': 0.34}, {'connected_gene': 'GC08P022948', 'score': 0.31}]
chr8 GH08I022926 22926791 22927253 0.4 [{'connected_gene': 'PEBP4', 'score': 22.74}, {'connected_gene': 'RHOBTB2', 'score': 11.2}, {'connected_gene': 'LOC101929237', 'score': 10.62}, {'connected_gene': 'BIN3', 'score': 10.38}, {'connected_gene': 'GC08P022948', 'score': 0.34}, {'connected_gene': 'ENSG00000253142', 'score': 0.31}]
chr8 GH08I022927 22927554 22928576 1.08 [{'connected_gene': 'PEBP4', 'score': 599.75}, {'connected_gene': 'RHOBTB2', 'score': 11.21}, {'connected_gene': 'LOC101929237', 'score': 10.6}, {'connected_gene': 'BIN3', 'score': 10.38}, {'connected_gene': 'GC08P022948', 'score': 0.34}, {'connected_gene': 'ENSG00000253142', 'score': 0.29}]
chr8 GH08I022997 22997968 22998417 0.96 [{'connected_gene': 'PEBP4', 'score': 550.77}, {'connected_gene': 'EGR3', 'score': 1.59}, {'connected_gene': 'RHOBTB2', 'score': 0.39}, {'connected_gene': 'LOC107986927', 'score': 0.34}]
chr8 GH08I022915 22915036 22919097 1.4 [{'connected_gene': 'PEBP4', 'score': 17.26}, {'connected_gene': 'LOC101929237', 'score': 11.75}, {'connected_gene': 'RHOBTB2', 'score': 11.33}, {'connected_gene': 'BIN3', 'score': 10.97}, {'connected_gene': 'CHMP7', 'score': 4.96}, {'connected_gene': 'ENSG00000253142', 'score': 0.37}, {'connected_gene': 'GC08P022948', 'score': 0.29}]
chr8 GH08I022945 22945088 22946099 0.52 [{'connected_gene': 'PEBP4', 'score': 20.61}, {'connected_gene': 'LOC101929237', 'score': 10.9}, {'connected_gene': 'RHOBTB2', 'score': 10.83}, {'connected_gene': 'GC08P022948', 'score': 0.77}, {'connected_gene': 'ENSG00000253142', 'score': 0.25}]
chr8 GH08I023017 23017204 23024008 1.69 [{'connected_gene': 'LOC107986927', 'score': 557.5}, {'connected_gene': 'PIR53150', 'score': 550.77}, {'connected_gene': 'PIR51638', 'score': 550.77}, {'connected_gene': 'RHOBTB2', 'score': 11.47}, {'connected_gene': 'LOC101929237', 'score': 10.06}, {'connected_gene': 'TNFRSF10B', 'score': 6.13}]
chr8 GH08I022978 22978888 22979037 0.43 [{'connected_gene': 'RN7SL303P', 'score': 550.77}, {'connected_gene': 'PEBP4', 'score': 13.26}, {'connected_gene': 'LOC101929237', 'score': 10.4}, {'connected_gene': 'RHOBTB2', 'score': 0.44}]
chr8 GH08I022816 22816548 22816697 0.57 [{'connected_gene': 'LOC105379325', 'score': 550.77}, {'connected_gene': 'LOC101929237', 'score': 11.7}, {'connected_gene': 'BIN3', 'score': 10.38}, {'connected_gene': 'RHOBTB2', 'score': 10.11}, {'connected_gene': 'PEBP4', 'score': 10.11}, {'connected_gene': 'PPP3CC', 'score': 10.04}, {'connected_gene': 'RNU6-336P', 'score': 10.04}, {'connected_gene': 'GC08P022845', 'score': 0.31}]
chr8 GH08I023007 23007230 23007475 0.2 [{'connected_gene': 'LOC101929237', 'score': 10.09}, {'connected_gene': 'BIN3', 'score': 9.73}, {'connected_gene': 'PIR37908', 'score': 0.77}, {'connected_gene': 'GC08P023010', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.39}, {'connected_gene': 'RHOBTB2', 'score': 0.34}, {'connected_gene': 'TNFRSF10B', 'score': 0.21}]
chr8 GH08I022811 22811640 22813381 0.38 [{'connected_gene': 'LOC101929237', 'score': 11.11}, {'connected_gene': 'RHOBTB2', 'score': 10.33}, {'connected_gene': 'BIN3', 'score': 9.97}, {'connected_gene': 'LOC105379327', 'score': 4.43}, {'connected_gene': 'LOC105379325', 'score': 0.77}, {'connected_gene': 'GC08M022746', 'score': 0.26}, {'connected_gene': 'PEBP4', 'score': 0.09}]
chr8 GH08I022911 22911349 22912968 0.84 [{'connected_gene': 'LOC101929237', 'score': 11.59}, {'connected_gene': 'RHOBTB2', 'score': 11.03}, {'connected_gene': 'ENSG00000253142', 'score': 0.39}, {'connected_gene': 'GC08P022948', 'score': 0.28}, {'connected_gene': 'PEBP4', 'score': 0.17}]
chr8 GH08I022545 22545169 22555197 2.47 [{'connected_gene': 'SORBS3', 'score': 561.85}, {'connected_gene': 'GC08M022549', 'score': 550.77}, {'connected_gene': 'PPP3CC', 'score': 18.51}, {'connected_gene': 'RNU6-336P', 'score': 11.58}, {'connected_gene': 'PDLIM2', 'score': 11.45}, {'connected_gene': 'ENSG00000248235', 'score': 11.42}, {'connected_gene': 'CCAR2', 'score': 11.01}, {'connected_gene': 'ENSG00000253200', 'score': 10.18}, {'connected_gene': 'XPO7', 'score': 10.03}, {'connected_gene': 'SLC39A14', 'score': 6.09}, {'connected_gene': 'LGI3', 'score': 3.29}, {'connected_gene': 'DMTN', 'score': 2.33}, {'connected_gene': 'PHYHIP', 'score': 2.3}, {'connected_gene': 'EGR3', 'score': 1.44}, {'connected_gene': 'RHOBTB2', 'score': 1.31}, {'connected_gene': 'ENSG00000251034', 'score': 0.77}]
chr8 GH08I022972 22972802 22976082 1.53 [{'connected_gene': 'GC08M022975', 'score': 550.77}, {'connected_gene': 'RHOBTB2', 'score': 5.61}, {'connected_gene': 'TNFRSF10B', 'score': 4.97}, {'connected_gene': 'NKX3-1', 'score': 4.79}, {'connected_gene': 'LOC107986927', 'score': 4.69}, {'connected_gene': 'CHMP7', 'score': 1.54}, {'connected_gene': 'GC08M022970', 'score': 0.77}, {'connected_gene': 'PEBP4', 'score': 0.31}]
chr8 GH08I022950 22950131 22951357 0.92 [{'connected_gene': 'GC08P022948', 'score': 550.77}, {'connected_gene': 'PIR56864', 'score': 550.77}, {'connected_gene': 'RHOBTB2', 'score': 11.5}, {'connected_gene': 'PEBP4', 'score': 11.39}, {'connected_gene': 'LOC101929237', 'score': 10.41}]
chr8 GH08I023011 23011454 23011629 0.2 [{'connected_gene': 'GC08P023010', 'score': 550.77}, {'connected_gene': 'RHOBTB2', 'score': 11.52}, {'connected_gene': 'LOC101929237', 'score': 10.07}, {'connected_gene': 'LOC107986927', 'score': 0.44}, {'connected_gene': 'PIR51638', 'score': 0.44}, {'connected_gene': 'TNFRSF10B', 'score': 0.22}]
chr8 GH08I023005 23004628 23004837 0.72 [{'connected_gene': 'PIR37908', 'score': 550.77}, {'connected_gene': 'GC08P023010', 'score': 0.44}, {'connected_gene': 'LOC107986927', 'score': 0.39}, {'connected_gene': 'RHOBTB2', 'score': 0.37}]
chr8 GH08I023004 23004842 23005109 0.46 [{'connected_gene': 'PIR37908', 'score': 550.77}, {'connected_gene': 'GC08P023010', 'score': 0.44}, {'connected_gene': 'LOC107986927', 'score': 0.39}, {'connected_gene': 'RHOBTB2', 'score': 0.37}]
chr8 GH08I023006 23005334 23006040 0.31 [{'connected_gene': 'PIR37908', 'score': 550.77}, {'connected_gene': 'GC08P023010', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.39}, {'connected_gene': 'RHOBTB2', 'score': 0.37}]
chr8 GH08I023009 23009546 23009900 0.42 [{'connected_gene': 'GC08P023010', 'score': 550.77}, {'connected_gene': 'LOC101929237', 'score': 10.08}, {'connected_gene': 'BIN3', 'score': 9.73}, {'connected_gene': 'PIR37908', 'score': 0.44}, {'connected_gene': 'LOC107986927', 'score': 0.44}, {'connected_gene': 'RHOBTB2', 'score': 0.34}, {'connected_gene': 'TNFRSF10B', 'score': 0.22}]
chr8 GH08I023008 23008375 23008977 0.58 [{'connected_gene': 'GC08P023010', 'score': 550.77}, {'connected_gene': 'LOC101929237', 'score': 10.08}, {'connected_gene': 'BIN3', 'score': 9.73}, {'connected_gene': 'PIR37908', 'score': 0.77}, {'connected_gene': 'LOC107986927', 'score': 0.39}, {'connected_gene': 'RHOBTB2', 'score': 0.34}, {'connected_gene': 'TNFRSF10B', 'score': 0.21}]

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