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
ENST00000372980 [[42740334, 42742143], [42743421, 42743516], [42744304, 42745026], [42747144, 42747263], [42788257, 42789047], [42814966, 42816218]] [[42743435, 42743516], [42744304, 42745026], [42747144, 42747263], [42788257, 42789047], [42814966, 42815345]]
ENST00000342272 [[42805456, 42806612], [42814966, 42815733]] [[42806601, 42806612], [42814966, 42815345]]
NM_020433 [[42740336, 42742143], [42743421, 42743516], [42744304, 42745026], [42747144, 42747263], [42788257, 42789047], [42814966, 42816218]] [[42743435, 42743516], [42744304, 42745026], [42747144, 42747263], [42788257, 42789047], [42814966, 42815345]]
NM_175913 [[42805456, 42806612], [42814966, 42816218]] [[42806601, 42806612], [42814966, 42815345]]
Promoter
Chrom Start End Description
chr20 42815652 42815664 CAGE_peak_4_at_JPH2_5end
chr20 42815767 42815787 CAGE_peak_2_at_JPH2_5end
chr20 42815793 42815838 CAGE_peak_1_at_JPH2_5end
chr20 42816127 42816140 CAGE_peak_3_at_JPH2_5end
chr20 42816206 42816211 CAGE_peak_8_at_JPH2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr20 GH20I044994 44994355 45003855 0.31 [{'connected_gene': 'STK4', 'score': 21.68}, {'connected_gene': 'STK4-AS1', 'score': 12.99}, {'connected_gene': 'TOMM34', 'score': 12.98}, {'connected_gene': 'JPH2', 'score': 5.35}, {'connected_gene': 'KCNS1', 'score': 4.66}, {'connected_gene': 'ENSG00000252021', 'score': 0.44}]
chr20 GH20I044089 44089951 44090381 1.18 [{'connected_gene': 'SRSF6', 'score': 11.58}, {'connected_gene': 'MYBL2', 'score': 10.09}, {'connected_gene': 'SGK2', 'score': 9.88}, {'connected_gene': 'JPH2', 'score': 5.9}, {'connected_gene': 'GC20P044130', 'score': 0.26}, {'connected_gene': 'RN7SL443P', 'score': 0.18}]
chr20 GH20I044173 44173956 44189616 2.62 [{'connected_gene': 'JPH2', 'score': 569.71}, {'connected_gene': 'SRSF6', 'score': 67.97}, {'connected_gene': 'OSER1', 'score': 30.83}, {'connected_gene': 'L3MBTL1', 'score': 20.83}, {'connected_gene': 'FITM2', 'score': 13.17}, {'connected_gene': 'IFT52', 'score': 10.92}, {'connected_gene': 'SGK2', 'score': 9.84}, {'connected_gene': 'OSER1-AS1', 'score': 7.55}, {'connected_gene': 'GC20P044130', 'score': 0.23}]
chr20 GH20I044160 44160846 44162624 0.31 [{'connected_gene': 'JPH2', 'score': 4.94}, {'connected_gene': 'OSER1', 'score': 4.66}, {'connected_gene': 'ENSG00000132832', 'score': 4.25}, {'connected_gene': 'GC20P044130', 'score': 0.29}]
chr20 GH20I044156 44156209 44160733 0.6 [{'connected_gene': 'JPH2', 'score': 4.62}, {'connected_gene': 'OSER1', 'score': 4.51}, {'connected_gene': 'GC20P044130', 'score': 0.31}]
chr20 GH20I044190 44190341 44190601 0.95 [{'connected_gene': 'JPH2', 'score': 7.17}, {'connected_gene': 'OSER1', 'score': 0.34}]
chr20 GH20I044165 44165339 44168193 0.99 [{'connected_gene': 'JPH2', 'score': 11.24}, {'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'OSER1', 'score': 7.3}, {'connected_gene': 'TTPAL', 'score': 6.35}, {'connected_gene': 'GC20P044130', 'score': 0.28}]
chr20 GH20I044074 44074381 44076101 0.86 [{'connected_gene': 'JPH2', 'score': 4.8}, {'connected_gene': 'GC20P044130', 'score': 0.22}, {'connected_gene': 'RN7SL443P', 'score': 0.2}]
chr20 GH20I044110 44110680 44115886 0.65 [{'connected_gene': 'JPH2', 'score': 10.39}, {'connected_gene': 'GC20P044130', 'score': 0.37}, {'connected_gene': 'RN7SL443P', 'score': 0.14}]
chr20 GH20I044162 44162823 44164867 0.38 [{'connected_gene': 'JPH2', 'score': 7.86}, {'connected_gene': 'OSER1-AS1', 'score': 5.79}, {'connected_gene': 'GC20P044130', 'score': 0.29}]
chr20 GH20I044216 44216999 44220678 1.5 [{'connected_gene': 'OSER1', 'score': 18.48}, {'connected_gene': 'SRSF6', 'score': 15.96}, {'connected_gene': 'FITM2', 'score': 12.31}, {'connected_gene': 'LINC01620', 'score': 10.54}, {'connected_gene': 'LINC01430', 'score': 10.54}, {'connected_gene': 'OSER1-AS1', 'score': 9.87}, {'connected_gene': 'JPH2', 'score': 4.6}, {'connected_gene': 'GDAP1L1', 'score': 0.31}]
chr20 GH20I044151 44151124 44155810 1.33 [{'connected_gene': 'OSER1', 'score': 4.57}, {'connected_gene': 'GC20P044130', 'score': 0.34}, {'connected_gene': 'JPH2', 'score': 0.29}]
chr20 GH20I044203 44202019 44202465 0.31 [{'connected_gene': 'OSER1', 'score': 0.44}, {'connected_gene': 'JPH2', 'score': 0.39}]
chr20 GH20I044206 44206836 44212942 2.33 [{'connected_gene': 'OSER1', 'score': 570.29}, {'connected_gene': 'OSER1-AS1', 'score': 566.22}, {'connected_gene': 'SRSF6', 'score': 22.04}, {'connected_gene': 'FITM2', 'score': 12.3}, {'connected_gene': 'L3MBTL1', 'score': 11.73}, {'connected_gene': 'KCNK15', 'score': 11.53}, {'connected_gene': 'IFT52', 'score': 11.19}, {'connected_gene': 'WISP2', 'score': 10.49}, {'connected_gene': 'JPH2', 'score': 0.34}]
chr20 GH20I044202 44202728 44205699 1.51 [{'connected_gene': 'OSER1', 'score': 20.51}, {'connected_gene': 'OSER1-AS1', 'score': 5.81}, {'connected_gene': 'JPH2', 'score': 0.37}]
chr20 GH20I044117 44117081 44119051 0.75 [{'connected_gene': 'SGK2', 'score': 4.87}, {'connected_gene': 'GC20P044130', 'score': 0.39}, {'connected_gene': 'JPH2', 'score': 0.2}, {'connected_gene': 'RN7SL443P', 'score': 0.14}]
chr20 GH20I044168 44168471 44169198 0.2 [{'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'JPH2', 'score': 10.67}, {'connected_gene': 'GC20P044130', 'score': 0.28}]
chr20 GH20I044169 44169425 44173652 0.72 [{'connected_gene': 'FITM2', 'score': 10.76}, {'connected_gene': 'OSER1', 'score': 7.75}, {'connected_gene': 'JPH2', 'score': 5.6}, {'connected_gene': 'GC20P044130', 'score': 0.26}]
chr20 GH20I044122 44122324 44126245 0.57 [{'connected_gene': 'KCNK15-AS1', 'score': 5.49}, {'connected_gene': 'OSER1-AS1', 'score': 5.18}, {'connected_gene': 'JPH2', 'score': 4.65}, {'connected_gene': 'GC20P044130', 'score': 0.44}, {'connected_gene': 'RN7SL443P', 'score': 0.13}]
chr20 GH20I044199 44199683 44200715 0.38 [{'connected_gene': 'OSER1-AS1', 'score': 5.44}, {'connected_gene': 'JPH2', 'score': 0.39}, {'connected_gene': 'OSER1', 'score': 0.39}]
chr20 GH20I044134 44134958 44147354 1.17 [{'connected_gene': 'OSER1-AS1', 'score': 6.16}, {'connected_gene': 'JPH2', 'score': 5.94}, {'connected_gene': 'GC20P044130', 'score': 0.39}]
chr20 GH20I044128 44128926 44130695 0.66 [{'connected_gene': 'GC20P044130', 'score': 550.77}, {'connected_gene': 'JPH2', 'score': 0.22}, {'connected_gene': 'RN7SL443P', 'score': 0.13}]
chr20 GH20I044116 44116781 44116930 1.02 [{'connected_gene': 'GC20P044130', 'score': 0.39}, {'connected_gene': 'JPH2', 'score': 0.19}, {'connected_gene': 'RN7SL443P', 'score': 0.14}]
chr20 GH20I044148 44148067 44148876 0.2 [{'connected_gene': 'GC20P044130', 'score': 0.37}, {'connected_gene': 'JPH2', 'score': 0.28}]
chr20 GH20I044132 44132964 44133871 0.2 [{'connected_gene': 'GC20P044130', 'score': 0.77}, {'connected_gene': 'JPH2', 'score': 0.23}]
chr20 GH20I044149 44149021 44149975 0.2 [{'connected_gene': 'GC20P044130', 'score': 0.37}, {'connected_gene': 'JPH2', 'score': 0.28}]

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