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
ENST00000264596 [[178230989, 178231263], [178243612, 178243734], [178256841, 178256976], [178257261, 178257475], [178260936, 178261011], [178262629, 178262796], [178272533, 178272703], [178274461, 178274882], [178281656, 178281831], [178283442, 178284097]] [[178231107, 178231263], [178243612, 178243734], [178256841, 178256976], [178257261, 178257475], [178260936, 178261011], [178262629, 178262796], [178272533, 178272703], [178274461, 178274882], [178281656, 178281831], [178283442, 178283625]]
ENST00000513321 [[178231056, 178231263], [178256841, 178256976], [178257261, 178257475], [178274461, 178275433]] [[178231107, 178231263], [178256841, 178256877]]
NM_018248 [[178230990, 178231263], [178243612, 178243734], [178256841, 178256976], [178257261, 178257475], [178260936, 178261011], [178262629, 178262796], [178272533, 178272703], [178274461, 178274882], [178281656, 178281831], [178283442, 178284092]] [[178231107, 178231263], [178243612, 178243734], [178256841, 178256976], [178257261, 178257475], [178260936, 178261011], [178262629, 178262796], [178272533, 178272703], [178274461, 178274882], [178281656, 178281831], [178283442, 178283625]]
Promoter
Chrom Start End Description
chr4 178230985 178230997 CAGE_peak_3_at_NEIL3_5end
chr4 178231020 178231036 CAGE_peak_1_at_NEIL3_5end
chr4 178231053 178231065 CAGE_peak_2_at_NEIL3_5end
chr4 178231084 178231093 CAGE_peak_4_at_NEIL3_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I177331 177331453 177334187 0.31 [{'connected_gene': 'NEIL3', 'score': 11.78}, {'connected_gene': 'ENSG00000249008', 'score': 11.19}, {'connected_gene': 'LOC105377558', 'score': 10.6}, {'connected_gene': 'GC04M177362', 'score': 0.29}]
chr4 GH04I177239 177239208 177244480 0.38 [{'connected_gene': 'NEIL3', 'score': 10.37}, {'connected_gene': 'ENSG00000249008', 'score': 0.44}, {'connected_gene': 'LOC105377557', 'score': 0.37}]
chr4 GH04I177308 177308114 177311009 2.47 [{'connected_gene': 'NEIL3', 'score': 550.77}, {'connected_gene': 'ENSG00000248980', 'score': 13.33}, {'connected_gene': 'ENSG00000249008', 'score': 10.53}]
chr4 GH04I177281 177281218 177282091 0.38 [{'connected_gene': 'NEIL3', 'score': 12.35}, {'connected_gene': 'ENSG00000249008', 'score': 11.36}]
chr4 GH04I177307 177307601 177307800 0.4 [{'connected_gene': 'NEIL3', 'score': 0.77}, {'connected_gene': 'ENSG00000249008', 'score': 0.22}]
chr4 GH04I177292 177292994 177294196 0.51 [{'connected_gene': 'NEIL3', 'score': 0.37}, {'connected_gene': 'ENSG00000249008', 'score': 0.26}]
chr4 GH04I177265 177265474 177267255 0.54 [{'connected_gene': 'NEIL3', 'score': 10.96}, {'connected_gene': 'ENSG00000249008', 'score': 0.37}]
chr4 GH04I177255 177255801 177257474 0.43 [{'connected_gene': 'NEIL3', 'score': 11.37}, {'connected_gene': 'ENSG00000249008', 'score': 0.44}]
chr4 GH04I177270 177270897 177272697 0.49 [{'connected_gene': 'NEIL3', 'score': 11.61}, {'connected_gene': 'ENSG00000249008', 'score': 11.35}]
chr4 GH04I177299 177299819 177303359 0.38 [{'connected_gene': 'NEIL3', 'score': 0.44}, {'connected_gene': 'ENSG00000249008', 'score': 0.23}]
chr4 GH04I177251 177251380 177251502 0.67 [{'connected_gene': 'NEIL3', 'score': 1.7}, {'connected_gene': 'ENSG00000249008', 'score': 0.77}]
chr4 GH04I177321 177321999 177323531 0.92 [{'connected_gene': 'LOC105377558', 'score': 10.9}, {'connected_gene': 'ENSG00000249008', 'score': 10.75}, {'connected_gene': 'NEIL3', 'score': 0.39}, {'connected_gene': 'GC04M177362', 'score': 0.26}]
chr4 GH04I177226 177226558 177226681 0.42 [{'connected_gene': 'LOC105377557', 'score': 550.77}, {'connected_gene': 'NEIL3', 'score': 2.24}, {'connected_gene': 'GC04M177201', 'score': 0.44}, {'connected_gene': 'GC04M177202', 'score': 0.44}]
chr4 GH04I177216 177216888 177218414 0.2 [{'connected_gene': 'GC04M177201', 'score': 550.77}, {'connected_gene': 'GC04M177202', 'score': 550.77}, {'connected_gene': 'ENSG00000249008', 'score': 10.95}, {'connected_gene': 'NEIL3', 'score': 10.49}, {'connected_gene': 'GC04M177185', 'score': 0.34}]
chr4 GH04I177285 177285502 177288309 0.49 [{'connected_gene': 'ENSG00000249008', 'score': 10.97}, {'connected_gene': 'NEIL3', 'score': 0.34}]
chr4 GH04I177311 177311801 177312000 0.4 [{'connected_gene': 'ENSG00000249008', 'score': 10.53}, {'connected_gene': 'NEIL3', 'score': 0.77}, {'connected_gene': 'GC04M177362', 'score': 0.23}]
chr4 GH04I177250 177250001 177250433 0.88 [{'connected_gene': 'ENSG00000249008', 'score': 550.77}, {'connected_gene': 'NEIL3', 'score': 0.22}]
chr4 GH04I177339 177339800 177340016 1.05 [{'connected_gene': 'ENSG00000249008', 'score': 11.55}, {'connected_gene': 'NEIL3', 'score': 11.3}, {'connected_gene': 'GC04M177362', 'score': 0.31}]
chr4 GH04I177319 177319715 177320440 0.76 [{'connected_gene': 'ENSG00000249008', 'score': 10.67}, {'connected_gene': 'ENSG00000248980', 'score': 10.47}, {'connected_gene': 'LOC105377558', 'score': 10.09}, {'connected_gene': 'NEIL3', 'score': 0.39}, {'connected_gene': 'GC04M177362', 'score': 0.25}]
chr4 GH04I177315 177315601 177317492 0.83 [{'connected_gene': 'ENSG00000249008', 'score': 10.69}, {'connected_gene': 'LOC105377558', 'score': 10.09}, {'connected_gene': 'NEIL3', 'score': 0.44}, {'connected_gene': 'GC04M177362', 'score': 0.25}]