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
ENST00000487251 [[53659294, 53659414], [53659533, 53660213], [53706907, 53707025], [53743790, 53743869], [53747684, 53747774], [53761295, 53761352], [53761626, 53761690], [53762086, 53762157], [53764544, 53764689], [53767426, 53767545], [53769176, 53770160]] [[53660054, 53660213], [53706907, 53707025], [53743790, 53743869], [53747684, 53747774], [53761295, 53761352], [53761626, 53761690], [53762086, 53762113]]
ENST00000370888 [[53659777, 53660213], [53706907, 53707025], [53743790, 53743869], [53747684, 53747774], [53761295, 53761352], [53761626, 53761690], [53762082, 53762157], [53764544, 53764689], [53767426, 53767545], [53769176, 53769260], [53778651, 53778767], [53784295, 53784468], [53785422, 53785559], [53787432, 53788919]] [[53660054, 53660213], [53706907, 53707025], [53743790, 53743869], [53747684, 53747774], [53761295, 53761352], [53761626, 53761690], [53762082, 53762157], [53764544, 53764689], [53767426, 53767545], [53769176, 53769260], [53778651, 53778767], [53784295, 53784468], [53785422, 53785559], [53787432, 53787591]]
ENST00000370882 [[53659887, 53660213], [53706907, 53707025], [53743790, 53743869], [53747684, 53747774], [53748748, 53748943]] [[53660054, 53660213], [53706907, 53707025], [53743790, 53743869], [53747684, 53747774], [53748748, 53748767]]
ENST00000490222 [[53784037, 53784468], [53785422, 53785546]] None
NM_018214 [[53659777, 53660213], [53706907, 53707025], [53743790, 53743869], [53747684, 53747774], [53761295, 53761352], [53761626, 53761690], [53762082, 53762157], [53764544, 53764689], [53767426, 53767545], [53769176, 53769260], [53778651, 53778767], [53784295, 53784468], [53785422, 53785559], [53787432, 53788919]] [[53660054, 53660213], [53706907, 53707025], [53743790, 53743869], [53747684, 53747774], [53761295, 53761352], [53761626, 53761690], [53762082, 53762157], [53764544, 53764689], [53767426, 53767545], [53769176, 53769260], [53778651, 53778767], [53784295, 53784468], [53785422, 53785559], [53787432, 53787591]]
Promoter
Chrom Start End Description
chr6 53659746 53659817 CAGE_peak_1_at_LRRC1_5end
chr6 53659849 53659861 CAGE_peak_6_at_LRRC1_5end
chr6 53659877 53659907 CAGE_peak_2_at_LRRC1_5end
chr6 53659912 53659929 CAGE_peak_3_at_LRRC1_5end
chr6 53659932 53659943 CAGE_peak_8_at_LRRC1_5end
chr6 53784052 53784055 CAGE_peak_7_at_LRRC1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr6 GH06I053956 53956203 53956332 0.75 [{'connected_gene': 'MLIP', 'score': 11.14}, {'connected_gene': 'LOC101927189', 'score': 11.14}, {'connected_gene': 'LRRC1', 'score': 6.63}, {'connected_gene': 'PIR57668', 'score': 0.39}, {'connected_gene': 'GC06P053984', 'score': 0.31}]
chr6 GH06I053894 53894200 53894401 0.38 [{'connected_gene': 'MLIP', 'score': 11.23}, {'connected_gene': 'LOC101927189', 'score': 11.23}, {'connected_gene': 'GC06M053813', 'score': 0.77}, {'connected_gene': 'PIR32511', 'score': 0.39}, {'connected_gene': 'LRRC1', 'score': 0.15}]
chr6 GH06I053910 53910739 53911953 0.43 [{'connected_gene': 'LRRC1', 'score': 19.39}, {'connected_gene': 'ENSG00000228614', 'score': 10.72}, {'connected_gene': 'MLIP', 'score': 5.54}, {'connected_gene': 'ENSG00000271218', 'score': 0.44}, {'connected_gene': 'GC06M053813', 'score': 0.39}]
chr6 GH06I053791 53791954 53797782 2.45 [{'connected_gene': 'LRRC1', 'score': 565.12}, {'connected_gene': 'ENSG00000228614', 'score': 550.77}, {'connected_gene': 'KLHL31', 'score': 13.36}, {'connected_gene': 'MLIP-IT1', 'score': 8.51}, {'connected_gene': 'ENSG00000227885', 'score': 4.84}, {'connected_gene': 'PIR32511', 'score': 0.17}]
chr6 GH06I053737 53737182 53738829 0.52 [{'connected_gene': 'LRRC1', 'score': 18.63}, {'connected_gene': 'ENSG00000228614', 'score': 11.57}, {'connected_gene': 'KLHL31', 'score': 10.97}, {'connected_gene': 'MLIP-IT1', 'score': 9.79}, {'connected_gene': 'ENSG00000227885', 'score': 0.44}]
chr6 GH06I053743 53743951 53745282 0.69 [{'connected_gene': 'LRRC1', 'score': 11.6}, {'connected_gene': 'ENSG00000228614', 'score': 11.6}, {'connected_gene': 'ENSG00000227885', 'score': 9.54}, {'connected_gene': 'KLHL31', 'score': 0.18}]
chr6 GH06I053799 53799203 53800301 0.43 [{'connected_gene': 'LRRC1', 'score': 8.61}, {'connected_gene': 'LOC101927189', 'score': 6.97}, {'connected_gene': 'PIR32511', 'score': 0.18}]
chr6 GH06I053854 53854329 53856024 0.88 [{'connected_gene': 'LRRC1', 'score': 15.97}, {'connected_gene': 'ENSG00000228614', 'score': 11.08}, {'connected_gene': 'MLIP-IT1', 'score': 5.6}, {'connected_gene': 'KLHL31', 'score': 4.3}, {'connected_gene': 'LOC101927189', 'score': 4.28}, {'connected_gene': 'PIR32511', 'score': 0.31}, {'connected_gene': 'GC06M053813', 'score': 0.26}]
chr6 GH06I053832 53832043 53832192 0.63 [{'connected_gene': 'LRRC1', 'score': 0.28}, {'connected_gene': 'PIR32511', 'score': 0.23}, {'connected_gene': 'GC06M053813', 'score': 0.2}]
chr6 GH06I053733 53733371 53736353 1.03 [{'connected_gene': 'KLHL31', 'score': 11.03}, {'connected_gene': 'MLIP-IT1', 'score': 9.71}, {'connected_gene': 'LRRC1', 'score': 7.44}, {'connected_gene': 'ENSG00000227885', 'score': 0.39}]
chr6 GH06I052918 52918027 52921410 0.88 [{'connected_gene': 'GSTA4', 'score': 8.47}, {'connected_gene': 'GSTA3', 'score': 7.15}, {'connected_gene': 'LRRC1', 'score': 6.56}, {'connected_gene': 'GC06P052940', 'score': 0.34}]
chr6 GH06I053040 53040580 53044964 1.12 [{'connected_gene': 'GSTA3', 'score': 9.99}, {'connected_gene': 'ICK', 'score': 5.45}, {'connected_gene': 'LRRC1', 'score': 4.06}, {'connected_gene': 'FBXO9', 'score': 0.44}, {'connected_gene': 'GC06P053034', 'score': 0.44}]
chr6 GH06I053812 53812642 53815207 0.59 [{'connected_gene': 'LOC101927189', 'score': 17.68}, {'connected_gene': 'MLIP', 'score': 10.62}, {'connected_gene': 'LRRC1', 'score': 8.62}, {'connected_gene': 'KLHL31', 'score': 5.3}, {'connected_gene': 'PIR32511', 'score': 0.19}, {'connected_gene': 'GC06M053813', 'score': 0.18}]
chr6 GH06I053815 53815364 53816095 0.71 [{'connected_gene': 'LOC101927189', 'score': 16.0}, {'connected_gene': 'MLIP', 'score': 10.63}, {'connected_gene': 'LRRC1', 'score': 8.85}, {'connected_gene': 'PIR32511', 'score': 0.2}, {'connected_gene': 'GC06M053813', 'score': 0.18}]
chr6 GH06I053809 53809692 53812226 1.13 [{'connected_gene': 'LOC101927189', 'score': 17.88}, {'connected_gene': 'MLIP', 'score': 10.86}, {'connected_gene': 'ENSG00000227885', 'score': 5.71}, {'connected_gene': 'LRRC1', 'score': 0.37}, {'connected_gene': 'PIR32511', 'score': 0.19}]
chr6 GH06I053838 53838483 53838632 0.56 [{'connected_gene': 'LOC101927189', 'score': 4.36}, {'connected_gene': 'LRRC1', 'score': 0.26}, {'connected_gene': 'PIR32511', 'score': 0.25}, {'connected_gene': 'GC06M053813', 'score': 0.21}]
chr6 GH06I053837 53837815 53838377 0.38 [{'connected_gene': 'LOC101927189', 'score': 5.71}, {'connected_gene': 'LRRC1', 'score': 0.26}, {'connected_gene': 'PIR32511', 'score': 0.25}, {'connected_gene': 'GC06M053813', 'score': 0.21}]
chr6 GH06I053802 53802912 53804127 0.31 [{'connected_gene': 'LOC101927189', 'score': 6.98}, {'connected_gene': 'ENSG00000227885', 'score': 5.17}, {'connected_gene': 'LRRC1', 'score': 0.44}, {'connected_gene': 'PIR32511', 'score': 0.18}]
chr6 GH06I053825 53825226 53830819 1.12 [{'connected_gene': 'LOC101927189', 'score': 16.28}, {'connected_gene': 'MLIP-IT1', 'score': 11.16}, {'connected_gene': 'MLIP', 'score': 10.66}, {'connected_gene': 'LRRC1', 'score': 8.51}, {'connected_gene': 'KLHL31', 'score': 7.66}, {'connected_gene': 'PIR32511', 'score': 0.22}, {'connected_gene': 'GC06M053813', 'score': 0.19}]
chr6 GH06I053961 53961196 53963078 0.49 [{'connected_gene': 'MLIP-IT1', 'score': 13.25}, {'connected_gene': 'MLIP', 'score': 12.01}, {'connected_gene': 'LOC101927189', 'score': 12.01}, {'connected_gene': 'LRRC1', 'score': 5.67}, {'connected_gene': 'ENSG00000227885', 'score': 5.11}, {'connected_gene': 'PIR57668', 'score': 0.37}, {'connected_gene': 'GC06P053984', 'score': 0.34}]
chr6 GH06I053740 53740993 53742185 0.63 [{'connected_gene': 'MLIP-IT1', 'score': 9.69}, {'connected_gene': 'LRRC1', 'score': 7.41}, {'connected_gene': 'KLHL31', 'score': 7.16}, {'connected_gene': 'ENSG00000227885', 'score': 4.59}]
chr6 GH06I053722 53722477 53725538 0.6 [{'connected_gene': 'MLIP-IT1', 'score': 9.1}, {'connected_gene': 'KLHL31', 'score': 8.42}, {'connected_gene': 'ENSG00000227885', 'score': 5.88}, {'connected_gene': 'LRRC1', 'score': 4.49}]
chr6 GH06I053751 53751884 53753978 0.56 [{'connected_gene': 'MLIP-IT1', 'score': 10.29}, {'connected_gene': 'ENSG00000227885', 'score': 9.04}, {'connected_gene': 'KLHL31', 'score': 8.59}, {'connected_gene': 'LRRC1', 'score': 8.0}, {'connected_gene': 'ENSG00000228614', 'score': 0.26}]
chr6 GH06I053861 53861404 53865128 0.66 [{'connected_gene': 'MLIP-IT1', 'score': 11.92}, {'connected_gene': 'LOC101927189', 'score': 5.36}, {'connected_gene': 'KLHL31', 'score': 5.29}, {'connected_gene': 'LRRC1', 'score': 4.64}, {'connected_gene': 'PIR32511', 'score': 0.34}, {'connected_gene': 'GC06M053813', 'score': 0.28}]
chr6 GH06I053870 53870083 53870252 0.57 [{'connected_gene': 'PIR32511', 'score': 0.39}, {'connected_gene': 'GC06M053813', 'score': 0.31}, {'connected_gene': 'LRRC1', 'score': 0.18}]
chr6 GH06I053916 53916883 53917032 0.2 [{'connected_gene': 'ENSG00000271218', 'score': 0.77}, {'connected_gene': 'GC06M053813', 'score': 0.37}, {'connected_gene': 'LRRC1', 'score': 0.13}]
chr6 GH06I053869 53869329 53869352 0.22 [{'connected_gene': 'PIR32511', 'score': 0.39}, {'connected_gene': 'GC06M053813', 'score': 0.31}, {'connected_gene': 'LRRC1', 'score': 0.19}]