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
ENST00000264399 [[82009836, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126215]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126201]]
ENST00000395578 [[82009836, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126214], [82136084, 82136188]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126201]]
ENST00000418486 [[82010582, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82064034, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126214], [82136089, 82136218]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82064034, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126201]]
ENST00000545647 [[82010646, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074583, 82074709], [82074797, 82074886]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064094]]
ENST00000509169 [[82010646, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074583, 82074709], [82074797, 82074875], [82075255, 82075311]] None
ENST00000509474 [[82010750, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82075255, 82075407]] None
ENST00000456882 [[82061781, 82061823], [82064034, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82075255, 82075298]] None
NM_001282480 [[82008523, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074583, 82074709], [82074797, 82074875], [82075255, 82075311]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064094]]
NM_001282481 [[82008523, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82075255, 82075311]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064094]]
NM_001282483 [[82008523, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063970, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82075255, 82075311]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061790]]
NM_001282482 [[82008523, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82064034, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82075255, 82075311]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82064034, 82064094]]
NM_006259 [[82008523, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126214], [82136089, 82136271]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82063947, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126201]]
NM_001282485 [[82008523, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82064034, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126214], [82136089, 82136271]] [[82010861, 82010957], [82013539, 82013606], [82025523, 82025586], [82026966, 82027089], [82031601, 82031765], [82056308, 82056450], [82058546, 82058636], [82061686, 82061823], [82064034, 82064101], [82065385, 82065484], [82070037, 82070106], [82073113, 82073208], [82074797, 82074875], [82088314, 82088378], [82090816, 82090922], [82092844, 82092958], [82095946, 82096113], [82125740, 82126201]]
Promoter
Chrom Start End Description
chr4 82136114 82136136 CAGE_peak_4_at_PRKG2_5end
chr4 82136284 82136295 CAGE_peak_3_at_PRKG2_5end
chr4 82136311 82136326 CAGE_peak_2_at_PRKG2_5end
chr4 82136339 82136392 CAGE_peak_1_at_PRKG2_5end
chr4 82136439 82136449 CAGE_peak_9_at_PRKG2_5end
chr4 82136474 82136483 CAGE_peak_13_at_PRKG2_5end
chr4 82136518 82136527 CAGE_peak_5_at_PRKG2_5end
chr4 82136547 82136556 CAGE_peak_8_at_PRKG2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I081378 81378277 81381882 0.49 [{'connected_gene': 'PRKG2', 'score': 16.64}, {'connected_gene': 'RASGEF1B', 'score': 5.07}, {'connected_gene': 'RNU5A-2P', 'score': 0.25}, {'connected_gene': 'GC04M081429', 'score': 0.25}]
chr4 GH04I081255 81255167 81256492 0.31 [{'connected_gene': 'PRKG2', 'score': 19.58}, {'connected_gene': 'RASGEF1B', 'score': 5.35}, {'connected_gene': 'GC04M081149', 'score': 0.18}]
chr4 GH04I081152 81152714 81154233 1.63 [{'connected_gene': 'PRKG2', 'score': 556.31}, {'connected_gene': 'LOC101928942', 'score': 0.39}, {'connected_gene': 'BMP3', 'score': 0.13}, {'connected_gene': 'GC04M081149', 'score': 0.1}]
chr4 GH04I081191 81191895 81194410 0.31 [{'connected_gene': 'PRKG2', 'score': 16.45}, {'connected_gene': 'LOC101928942', 'score': 11.57}, {'connected_gene': 'FGF5', 'score': 4.44}, {'connected_gene': 'GC04M081149', 'score': 0.12}]
chr4 GH04I081210 81210574 81221376 1.87 [{'connected_gene': 'PRKG2', 'score': 565.95}, {'connected_gene': 'LOC101928942', 'score': 0.23}, {'connected_gene': 'GC04M081149', 'score': 0.13}]
chr4 GH04I081346 81346869 81349320 0.2 [{'connected_gene': 'PRKG2', 'score': 16.14}, {'connected_gene': 'RNU5A-2P', 'score': 0.39}, {'connected_gene': 'GC04M081429', 'score': 0.18}]
chr4 GH04I081351 81351747 81351896 0.56 [{'connected_gene': 'PRKG2', 'score': 16.35}, {'connected_gene': 'RNU5A-2P', 'score': 0.37}, {'connected_gene': 'GC04M081429', 'score': 0.18}]
chr4 GH04I081313 81313647 81316367 0.63 [{'connected_gene': 'PRKG2', 'score': 4.55}, {'connected_gene': 'GC04M081149', 'score': 0.37}]
chr4 GH04I081290 81290343 81292569 0.2 [{'connected_gene': 'PRKG2', 'score': 18.37}, {'connected_gene': 'GC04M081149', 'score': 0.26}]
chr4 GH04I081257 81257982 81260122 0.2 [{'connected_gene': 'PRKG2', 'score': 9.68}, {'connected_gene': 'GC04M081149', 'score': 0.19}]
chr4 GH04I081162 81162987 81166810 0.89 [{'connected_gene': 'LOC101928942', 'score': 550.77}, {'connected_gene': 'PRKG2', 'score': 6.18}, {'connected_gene': 'BMP3', 'score': 0.12}, {'connected_gene': 'GC04M081149', 'score': 0.1}]
chr4 GH04I081135 81135729 81137724 0.42 [{'connected_gene': 'LOC101928942', 'score': 12.11}, {'connected_gene': 'PRKG2', 'score': 0.18}, {'connected_gene': 'BMP3', 'score': 0.14}]
chr4 GH04I081195 81195187 81199270 0.66 [{'connected_gene': 'LOC101928942', 'score': 11.55}, {'connected_gene': 'PRKG2', 'score': 6.3}, {'connected_gene': 'FGF5', 'score': 4.77}, {'connected_gene': 'GC04M081149', 'score': 0.12}]
chr4 GH04I081206 81206027 81209527 0.72 [{'connected_gene': 'RNU5A-2P', 'score': 11.08}, {'connected_gene': 'LOC101928942', 'score': 10.53}, {'connected_gene': 'PRKG2', 'score': 0.44}, {'connected_gene': 'GC04M081149', 'score': 0.13}]
chr4 GH04I081203 81203843 81205151 0.4 [{'connected_gene': 'RNU5A-2P', 'score': 11.08}, {'connected_gene': 'LOC101928942', 'score': 10.52}, {'connected_gene': 'PRKG2', 'score': 0.39}, {'connected_gene': 'GC04M081149', 'score': 0.13}]
chr4 GH04I081319 81319787 81319936 0.2 [{'connected_gene': 'GC04M081149', 'score': 0.39}, {'connected_gene': 'PRKG2', 'score': 0.15}]

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