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
ENST00000526343 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076805], [102094352, 102094483], [102098199, 102098312], [102100432, 102101323]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076805], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
ENST00000282441 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
ENST00000537274 [[101981209, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076817], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076817], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
ENST00000345877 [[101981209, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076817], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076817], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
ENST00000531439 [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102094352, 102094483], [102098199, 102098312], [102100432, 102100694]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
ENST00000524575 [[101983244, 101983476], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100883]] [[101985087, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
ENST00000526594 [[102033186, 102033302], [102056748, 102057417]] None
ENST00000529029 [[102056811, 102056862], [102076623, 102076817], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102101310]] [[102056811, 102056862], [102076623, 102076817], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
ENST00000528834 [[102097703, 102097814], [102098199, 102098312], [102100432, 102101233]] None
NM_006106 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076805], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076805], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
NM_001282097 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
NM_001282098 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076817], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076817], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
NM_001282099 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076817], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102076623, 102076817], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
NM_001195044 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
NM_001130145 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
NM_001282100 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076817], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076817], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
NM_001282101 [[101981191, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076817], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101981579, 101981900], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076817], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
NM_001195045 [[101983170, 101983476], [101984874, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102104154]] [[101985087, 101985125], [102033186, 102033302], [102056748, 102056862], [102076623, 102076805], [102080247, 102080295], [102094352, 102094483], [102098199, 102098312], [102100432, 102100671]]
Promoter
Chrom Start End Description
chr11 101980698 101980709 CAGE_peak_15_at_YAP1_5end
chr11 101980713 101980754 CAGE_peak_8_at_YAP1_5end
chr11 101980791 101980865 CAGE_peak_4_at_YAP1_5end
chr11 101981127 101981164 CAGE_peak_2_at_YAP1_5end
chr11 101981169 101981187 CAGE_peak_1_at_YAP1_5end
chr11 101981263 101981288 CAGE_peak_6_at_YAP1_5end
chr11 101981303 101981323 CAGE_peak_9_at_YAP1_5end
chr11 101981327 101981348 CAGE_peak_7_at_YAP1_5end
chr11 101981353 101981380 CAGE_peak_5_at_YAP1_5end
chr11 101981423 101981503 CAGE_peak_3_at_YAP1_5end
chr11 101981731 101981742 CAGE_peak_11_at_YAP1_5end
chr11 101981860 101981867 CAGE_peak_18_at_YAP1_5end
chr11 101983176 101983180 CAGE_peak_10_at_YAP1_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr11 GH11I102196 102196994 102199079 0.79 [{'connected_gene': 'BIRC2', 'score': 4.67}, {'connected_gene': 'YAP1', 'score': 4.32}, {'connected_gene': 'ENSG00000254422', 'score': 0.29}, {'connected_gene': 'ENSG00000277459', 'score': 0.17}]
chr11 GH11I102222 102222373 102228047 1.07 [{'connected_gene': 'BIRC2', 'score': 4.5}, {'connected_gene': 'YAP1', 'score': 4.42}, {'connected_gene': 'ENSG00000254422', 'score': 0.44}, {'connected_gene': 'ENSG00000277459', 'score': 0.14}]
chr11 GH11I102169 102169906 102173287 1.19 [{'connected_gene': 'YAP1', 'score': 10.8}, {'connected_gene': 'C11orf70', 'score': 3.33}, {'connected_gene': 'TMEM123', 'score': 2.62}, {'connected_gene': 'ENSG00000254422', 'score': 0.22}, {'connected_gene': 'ENSG00000277459', 'score': 0.21}]
chr11 GH11I102064 102064450 102064539 0.2 [{'connected_gene': 'YAP1', 'score': 11.5}, {'connected_gene': 'RNA5SP535', 'score': 0.44}, {'connected_gene': 'C11orf70', 'score': 0.37}, {'connected_gene': 'ENSG00000260008', 'score': 0.26}]
chr11 GH11I102108 102108529 102118217 2.47 [{'connected_gene': 'YAP1', 'score': 564.82}, {'connected_gene': 'DYNC2H1', 'score': 40.51}, {'connected_gene': 'CEP126', 'score': 23.59}, {'connected_gene': 'BIRC2', 'score': 22.23}, {'connected_gene': 'PGR', 'score': 10.08}, {'connected_gene': 'ENSG00000255504', 'score': 4.52}, {'connected_gene': 'ENSG00000277459', 'score': 0.77}, {'connected_gene': 'ENSG00000260008', 'score': 0.44}, {'connected_gene': 'ENSG00000254422', 'score': 0.13}]
chr11 GH11I102156 102156619 102158724 0.9 [{'connected_gene': 'YAP1', 'score': 4.6}, {'connected_gene': 'ENSG00000277459', 'score': 0.25}, {'connected_gene': 'ENSG00000254422', 'score': 0.19}]
chr11 GH11I102151 102151927 102153508 0.38 [{'connected_gene': 'YAP1', 'score': 4.39}, {'connected_gene': 'ENSG00000277459', 'score': 0.26}, {'connected_gene': 'ENSG00000254422', 'score': 0.18}]
chr11 GH11I102146 102146201 102146400 0.4 [{'connected_gene': 'YAP1', 'score': 0.28}, {'connected_gene': 'ENSG00000277459', 'score': 0.28}, {'connected_gene': 'ENSG00000254422', 'score': 0.18}]
chr11 GH11I102141 102141021 102143273 0.2 [{'connected_gene': 'YAP1', 'score': 15.68}, {'connected_gene': 'ENSG00000277459', 'score': 0.29}, {'connected_gene': 'ENSG00000254422', 'score': 0.17}]
chr11 GH11I102203 102203870 102205545 0.31 [{'connected_gene': 'YAP1', 'score': 4.26}, {'connected_gene': 'ENSG00000254422', 'score': 0.31}, {'connected_gene': 'ENSG00000277459', 'score': 0.16}]
chr11 GH11I102118 102118623 102121703 1.24 [{'connected_gene': 'YAP1', 'score': 4.57}, {'connected_gene': 'ENSG00000255504', 'score': 4.53}, {'connected_gene': 'ENSG00000277459', 'score': 0.44}, {'connected_gene': 'ENSG00000254422', 'score': 0.14}]
chr11 GH11I102184 102184007 102185881 0.2 [{'connected_gene': 'YAP1', 'score': 5.81}, {'connected_gene': 'ENSG00000254422', 'score': 0.25}, {'connected_gene': 'ENSG00000277459', 'score': 0.19}]
chr11 GH11I102137 102137171 102140667 1.03 [{'connected_gene': 'YAP1', 'score': 11.55}, {'connected_gene': 'ENSG00000277459', 'score': 0.31}, {'connected_gene': 'ENSG00000254422', 'score': 0.16}]
chr11 GH11I102191 102191506 102193590 1.07 [{'connected_gene': 'YAP1', 'score': 4.62}, {'connected_gene': 'ENSG00000254422', 'score': 0.28}, {'connected_gene': 'ENSG00000277459', 'score': 0.18}]
chr11 GH11I102144 102144002 102145501 1.09 [{'connected_gene': 'YAP1', 'score': 0.29}, {'connected_gene': 'ENSG00000277459', 'score': 0.29}, {'connected_gene': 'ENSG00000254422', 'score': 0.17}]
chr11 GH11I102168 102168203 102169274 0.2 [{'connected_gene': 'YAP1', 'score': 0.22}, {'connected_gene': 'ENSG00000277459', 'score': 0.22}, {'connected_gene': 'ENSG00000254422', 'score': 0.21}]
chr11 GH11I102176 102176768 102180280 1.27 [{'connected_gene': 'ENSG00000254422', 'score': 10.74}, {'connected_gene': 'MMP8', 'score': 4.99}, {'connected_gene': 'YAP1', 'score': 0.2}, {'connected_gene': 'ENSG00000277459', 'score': 0.2}]
chr11 GH11I102130 102130198 102133127 0.49 [{'connected_gene': 'ENSG00000254422', 'score': 10.39}, {'connected_gene': 'YAP1', 'score': 0.34}, {'connected_gene': 'ENSG00000277459', 'score': 0.34}]
chr11 GH11I102209 102209310 102209459 0.4 [{'connected_gene': 'ENSG00000254422', 'score': 0.34}, {'connected_gene': 'YAP1', 'score': 0.15}, {'connected_gene': 'ENSG00000277459', 'score': 0.15}]
chr11 GH11I102229 102229020 102230854 0.86 [{'connected_gene': 'ENSG00000254422', 'score': 550.77}, {'connected_gene': 'YAP1', 'score': 4.28}, {'connected_gene': 'ENSG00000277459', 'score': 0.13}]
chr11 GH11I102186 102186434 102188519 1.02 [{'connected_gene': 'ENSG00000254422', 'score': 10.79}, {'connected_gene': 'YAP1', 'score': 0.18}, {'connected_gene': 'ENSG00000277459', 'score': 0.18}]
chr11 GH11I102207 102207718 102208573 0.4 [{'connected_gene': 'ENSG00000254422', 'score': 0.34}, {'connected_gene': 'YAP1', 'score': 0.15}, {'connected_gene': 'ENSG00000277459', 'score': 0.15}]
chr11 GH11I102220 102220417 102221499 0.69 [{'connected_gene': 'ENSG00000254422', 'score': 0.44}, {'connected_gene': 'YAP1', 'score': 0.14}, {'connected_gene': 'ENSG00000277459', 'score': 0.14}]
chr11 GH11I102216 102216730 102216879 0.4 [{'connected_gene': 'ENSG00000254422', 'score': 0.39}, {'connected_gene': 'YAP1', 'score': 0.14}, {'connected_gene': 'ENSG00000277459', 'score': 0.14}]
chr11 GH11I102154 102154412 102156373 0.46 [{'connected_gene': 'ENSG00000277459', 'score': 0.26}, {'connected_gene': 'YAP1', 'score': 0.25}, {'connected_gene': 'ENSG00000254422', 'score': 0.18}]
chr11 GH11I102208 102208950 102209159 0.51 [{'connected_gene': 'ENSG00000254422', 'score': 0.34}, {'connected_gene': 'YAP1', 'score': 0.15}, {'connected_gene': 'ENSG00000277459', 'score': 0.15}]