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
ENST00000467268 [[52828783, 52828912], [52829618, 52830057]] None
ENST00000416872 [[52828811, 52828912], [52829618, 52829639], [52830496, 52830663], [52830754, 52830859], [52831120, 52831283], [52831832, 52831946], [52832981, 52833107], [52833387, 52833504], [52833768, 52833937], [52834553, 52834679], [52834980, 52835162], [52836349, 52836535], [52836682, 52836712], [52841035, 52841121], [52841762, 52841932], [52842125, 52842237], [52842567, 52842812]] [[52828819, 52828912], [52829618, 52829639], [52830496, 52830663], [52830754, 52830859], [52831120, 52831283], [52831832, 52831946], [52832981, 52833107], [52833387, 52833504], [52833768, 52833937], [52834553, 52834679], [52834980, 52835162], [52836349, 52836535], [52836682, 52836712], [52841035, 52841121], [52841762, 52841932], [52842125, 52842237], [52842567, 52842697]]
ENST00000449956 [[52828813, 52828912], [52829618, 52829639], [52830496, 52830663], [52830754, 52830859], [52831120, 52831283], [52831832, 52831946], [52832981, 52833107], [52833387, 52833504], [52833768, 52833937], [52834553, 52834679], [52834980, 52835162], [52836349, 52836535], [52836682, 52836822], [52837870, 52838025], [52838741, 52838750], [52839823, 52839856], [52840118, 52840154], [52840308, 52840422], [52840916, 52841121], [52841762, 52841932], [52842125, 52842237], [52842567, 52843025]] [[52828819, 52828912], [52829618, 52829639], [52830496, 52830663], [52830754, 52830859], [52831120, 52831283], [52831832, 52831946], [52832981, 52833107], [52833387, 52833504], [52833768, 52833937], [52834553, 52834679], [52834980, 52835162], [52836349, 52836535], [52836682, 52836822], [52837870, 52838025], [52838741, 52838750], [52839823, 52839856], [52840118, 52840154], [52840308, 52840422], [52840916, 52841121], [52841762, 52841932], [52842125, 52842237], [52842567, 52842697]]
ENST00000465243 [[52832585, 52832772], [52832981, 52833107], [52833387, 52833504], [52833768, 52833937], [52834553, 52834679], [52834980, 52835079]] None
ENST00000463893 [[52832627, 52832789], [52832981, 52833107], [52833387, 52833504], [52833768, 52833892]] None
ENST00000464804 [[52834401, 52834679], [52834980, 52835162], [52836349, 52836432]] None
ENST00000465314 [[52836219, 52836535], [52836682, 52836822]] None
ENST00000475931 [[52836517, 52836535], [52836682, 52836822], [52837870, 52838270]] None
ENST00000495622 [[52838018, 52838750], [52840118, 52840154], [52840308, 52840422], [52840916, 52840954]] None
ENST00000493136 [[52838821, 52840154], [52840308, 52840422], [52840916, 52841121], [52841762, 52841932], [52842125, 52842237], [52842567, 52842812]] None
NM_002217 [[52828783, 52828912], [52829618, 52829639], [52830496, 52830663], [52830754, 52830859], [52831120, 52831283], [52831832, 52831946], [52832981, 52833107], [52833387, 52833504], [52833768, 52833937], [52834553, 52834679], [52834980, 52835162], [52836349, 52836535], [52836682, 52836822], [52837870, 52838025], [52838741, 52838750], [52839823, 52839856], [52840118, 52840154], [52840308, 52840422], [52840916, 52841121], [52841762, 52841932], [52842125, 52842237], [52842567, 52843025]] [[52828819, 52828912], [52829618, 52829639], [52830496, 52830663], [52830754, 52830859], [52831120, 52831283], [52831832, 52831946], [52832981, 52833107], [52833387, 52833504], [52833768, 52833937], [52834553, 52834679], [52834980, 52835162], [52836349, 52836535], [52836682, 52836822], [52837870, 52838025], [52838741, 52838750], [52839823, 52839856], [52840118, 52840154], [52840308, 52840422], [52840916, 52841121], [52841762, 52841932], [52842125, 52842237], [52842567, 52842697]]
Promoter
Chrom Start End Description
chr3 52828805 52828821 CAGE_peak_1_at_ITIH3_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr3 GH03I053123 53123401 53123600 0.51 [{'connected_gene': 'RFT1', 'score': 16.29}, {'connected_gene': 'PRKCD', 'score': 11.07}, {'connected_gene': 'ITIH3', 'score': 4.19}, {'connected_gene': 'ENSG00000272305', 'score': 0.34}]
chr3 GH03I053108 53108929 53110934 0.83 [{'connected_gene': 'RFT1', 'score': 16.6}, {'connected_gene': 'PRKCD', 'score': 10.9}, {'connected_gene': 'ENSG00000243696', 'score': 10.9}, {'connected_gene': 'ITIH3', 'score': 4.46}, {'connected_gene': 'ENSG00000272305', 'score': 0.39}]
chr3 GH03I052769 52769836 52771938 2.02 [{'connected_gene': 'NEK4', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 60.08}, {'connected_gene': 'RRP9', 'score': 21.46}, {'connected_gene': 'RFT1', 'score': 13.2}, {'connected_gene': 'ITIH3', 'score': 12.78}, {'connected_gene': 'ITIH4-AS1', 'score': 11.29}, {'connected_gene': 'ITIH4', 'score': 11.27}, {'connected_gene': 'ENSG00000243696', 'score': 11.27}, {'connected_gene': 'SNORD69', 'score': 10.51}, {'connected_gene': 'GNL3', 'score': 10.5}, {'connected_gene': 'MUSTN1', 'score': 10.49}, {'connected_gene': 'ENSG00000222345', 'score': 10.45}, {'connected_gene': 'SNORD19B', 'score': 10.44}, {'connected_gene': 'SNORD19', 'score': 10.44}, {'connected_gene': 'ENSG00000252787', 'score': 10.44}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.41}, {'connected_gene': 'STIMATE', 'score': 10.41}, {'connected_gene': 'LOC101059924', 'score': 0.37}]
chr3 GH03I053140 53140402 53141800 1.43 [{'connected_gene': 'GLT8D1', 'score': 24.09}, {'connected_gene': 'RFT1', 'score': 22.26}, {'connected_gene': 'NISCH', 'score': 19.52}, {'connected_gene': 'PRKCD', 'score': 14.47}, {'connected_gene': 'ACTR8', 'score': 11.38}, {'connected_gene': 'NEK4', 'score': 11.24}, {'connected_gene': 'STIMATE', 'score': 8.07}, {'connected_gene': 'ITIH4', 'score': 7.34}, {'connected_gene': 'DCP1A', 'score': 6.17}, {'connected_gene': 'ITIH3', 'score': 4.87}, {'connected_gene': 'PBRM1', 'score': 1.98}, {'connected_gene': 'TKT', 'score': 1.23}, {'connected_gene': 'PIR59540', 'score': 0.77}]
chr3 GH03I053764 53764195 53765206 0.31 [{'connected_gene': 'PRKCD', 'score': 7.14}, {'connected_gene': 'ITIH3', 'score': 4.18}, {'connected_gene': 'GC03P053782', 'score': 0.37}, {'connected_gene': 'PIR47826', 'score': 0.18}, {'connected_gene': 'CACNA1D', 'score': 0.05}]
chr3 GH03I052762 52762837 52764347 0.74 [{'connected_gene': 'PBRM1', 'score': 36.31}, {'connected_gene': 'ITIH3', 'score': 12.73}, {'connected_gene': 'SNORD69', 'score': 10.52}, {'connected_gene': 'GNL3', 'score': 10.51}, {'connected_gene': 'ENSG00000222345', 'score': 10.46}, {'connected_gene': 'SNORD19B', 'score': 10.46}, {'connected_gene': 'SNORD19', 'score': 10.46}, {'connected_gene': 'ENSG00000252787', 'score': 10.46}, {'connected_gene': 'NEK4', 'score': 0.44}, {'connected_gene': 'LOC101059924', 'score': 0.39}]
chr3 GH03I052696 52696408 52697995 0.83 [{'connected_gene': 'PBRM1', 'score': 30.72}, {'connected_gene': 'ITIH1', 'score': 5.39}, {'connected_gene': 'ITIH3', 'score': 4.62}, {'connected_gene': 'GNL3', 'score': 4.45}, {'connected_gene': 'SNORD69', 'score': 0.77}, {'connected_gene': 'SPCS1', 'score': 0.44}, {'connected_gene': 'GLT8D1', 'score': 0.44}]
chr3 GH03I052648 52648802 52650930 0.71 [{'connected_gene': 'PBRM1', 'score': 41.67}, {'connected_gene': 'GNL3', 'score': 16.8}, {'connected_gene': 'SNORD19', 'score': 11.35}, {'connected_gene': 'ENSG00000252787', 'score': 11.35}, {'connected_gene': 'ENSG00000222345', 'score': 11.33}, {'connected_gene': 'SNORD19B', 'score': 11.33}, {'connected_gene': 'SNORD69', 'score': 11.33}, {'connected_gene': 'ITIH3', 'score': 4.57}, {'connected_gene': 'RNU6ATAC16P', 'score': 0.17}]
chr3 GH03I053043 53043333 53047245 1.93 [{'connected_gene': 'SFMBT1', 'score': 566.92}, {'connected_gene': 'GC03P053048', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 32.22}, {'connected_gene': 'RFT1', 'score': 26.35}, {'connected_gene': 'PBRM1', 'score': 17.35}, {'connected_gene': 'STIMATE', 'score': 10.55}, {'connected_gene': 'SNORD19B', 'score': 10.07}, {'connected_gene': 'PRKCD', 'score': 10.05}, {'connected_gene': 'ITIH3', 'score': 4.2}, {'connected_gene': 'LOC105377135', 'score': 0.25}, {'connected_gene': 'ENSG00000272305', 'score': 0.23}]
chr3 GH03I052896 52896337 52898241 1.85 [{'connected_gene': 'STIMATE', 'score': 550.77}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 34.9}, {'connected_gene': 'ITIH3', 'score': 4.3}, {'connected_gene': 'ENSG00000279144', 'score': 0.25}]
chr3 GH03I053112 53112730 53115174 1.03 [{'connected_gene': 'ITIH4', 'score': 17.26}, {'connected_gene': 'RFT1', 'score': 16.42}, {'connected_gene': 'PRKCD', 'score': 10.92}, {'connected_gene': 'ENSG00000243696', 'score': 10.9}, {'connected_gene': 'ITIH3', 'score': 4.72}, {'connected_gene': 'ENSG00000272305', 'score': 0.39}]
chr3 GH03I053026 53026525 53026674 0.38 [{'connected_gene': 'ITIH4', 'score': 19.88}, {'connected_gene': 'ITIH3', 'score': 4.21}, {'connected_gene': 'GC03P053048', 'score': 0.37}, {'connected_gene': 'SFMBT1', 'score': 0.34}, {'connected_gene': 'LOC105377135', 'score': 0.31}, {'connected_gene': 'ENSG00000272305', 'score': 0.19}]
chr3 GH03I052794 52794747 52794806 1.1 [{'connected_gene': 'ITIH3', 'score': 550.77}, {'connected_gene': 'PIR44226', 'score': 0.39}]
chr3 GH03I052774 52774585 52776817 1.11 [{'connected_gene': 'ITIH1', 'score': 550.77}, {'connected_gene': 'PBRM1', 'score': 26.83}, {'connected_gene': 'ITIH4-AS1', 'score': 11.3}, {'connected_gene': 'ITIH4', 'score': 11.27}, {'connected_gene': 'ENSG00000243696', 'score': 11.26}, {'connected_gene': 'MUSTN1', 'score': 10.24}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.14}, {'connected_gene': 'STIMATE', 'score': 10.14}, {'connected_gene': 'ITIH3', 'score': 5.74}, {'connected_gene': 'NEK4', 'score': 0.77}]
chr3 GH03I052782 52782137 52782196 0.5 [{'connected_gene': 'ITIH1', 'score': 550.77}, {'connected_gene': 'ENSG00000243696', 'score': 11.03}, {'connected_gene': 'MUSTN1', 'score': 11.03}, {'connected_gene': 'STIMATE', 'score': 10.92}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.92}, {'connected_gene': 'ITIH3', 'score': 0.39}]
chr3 GH03I052778 52778575 52780916 1.39 [{'connected_gene': 'ITIH1', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 15.66}, {'connected_gene': 'PBRM1', 'score': 13.5}, {'connected_gene': 'ENSG00000243696', 'score': 11.02}, {'connected_gene': 'MUSTN1', 'score': 11.02}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 10.92}, {'connected_gene': 'STIMATE', 'score': 10.92}, {'connected_gene': 'WDR82', 'score': 5.94}, {'connected_gene': 'ITIH3', 'score': 5.6}]
chr3 GH03I052779 52778325 52778474 0.46 [{'connected_gene': 'ITIH1', 'score': 550.77}, {'connected_gene': 'ITIH3', 'score': 0.37}]
chr3 GH03I052459 52459305 52459454 0.31 [{'connected_gene': 'STAB1', 'score': 11.54}, {'connected_gene': 'SMIM4', 'score': 11.09}, {'connected_gene': 'NT5DC2', 'score': 11.08}, {'connected_gene': 'PBRM1', 'score': 10.21}, {'connected_gene': 'SNORD19', 'score': 10.21}, {'connected_gene': 'ENSG00000252787', 'score': 10.21}, {'connected_gene': 'GNL3', 'score': 10.21}, {'connected_gene': 'ENSG00000222345', 'score': 10.21}, {'connected_gene': 'SNORD69', 'score': 10.21}, {'connected_gene': 'SNORD19B', 'score': 10.21}, {'connected_gene': 'MIR135A1', 'score': 9.64}, {'connected_gene': 'GLYCTK-AS1', 'score': 9.64}, {'connected_gene': 'WDR82', 'score': 9.64}, {'connected_gene': 'GLYCTK', 'score': 9.64}, {'connected_gene': 'ITIH4', 'score': 7.09}, {'connected_gene': 'ITIH3', 'score': 4.75}, {'connected_gene': 'NISCH', 'score': 0.77}, {'connected_gene': 'PIR37247', 'score': 0.31}]
chr3 GH03I052274 52274220 52291489 2.5 [{'connected_gene': 'GLYCTK', 'score': 568.52}, {'connected_gene': 'WDR82', 'score': 550.44}, {'connected_gene': 'LOC101929054', 'score': 28.2}, {'connected_gene': 'PPM1M', 'score': 28.18}, {'connected_gene': 'TWF2', 'score': 23.58}, {'connected_gene': 'ITIH4', 'score': 20.35}, {'connected_gene': 'PBRM1', 'score': 19.2}, {'connected_gene': 'ENSG00000173366', 'score': 11.39}, {'connected_gene': 'TLR9', 'score': 11.37}, {'connected_gene': 'SEMA3G', 'score': 10.74}, {'connected_gene': 'NT5DC2', 'score': 8.65}, {'connected_gene': 'RPL29', 'score': 4.61}, {'connected_gene': 'ITIH3', 'score': 4.47}, {'connected_gene': 'RFT1', 'score': 4.37}, {'connected_gene': 'NEK4', 'score': 4.18}, {'connected_gene': 'GC03P052278', 'score': 0.77}, {'connected_gene': 'GC03M052276', 'score': 0.44}, {'connected_gene': 'GC03M052275', 'score': 0.44}, {'connected_gene': 'GLYCTK-AS1', 'score': 0.37}]
chr3 GH03I052452 52452027 52457541 2.39 [{'connected_gene': 'NISCH', 'score': 560.24}, {'connected_gene': 'TNNC1', 'score': 550.77}, {'connected_gene': 'PPM1M', 'score': 10.66}, {'connected_gene': 'NT5DC2', 'score': 9.69}, {'connected_gene': 'PBRM1', 'score': 5.89}, {'connected_gene': 'ITIH3', 'score': 4.56}, {'connected_gene': 'SFMBT1', 'score': 4.17}]
chr3 GH03I052844 52844306 52846598 1.2 [{'connected_gene': 'MIR8064', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 45.12}, {'connected_gene': 'ITIH1', 'score': 15.59}, {'connected_gene': 'ITIH3', 'score': 10.8}, {'connected_gene': 'PIR43341', 'score': 0.44}, {'connected_gene': 'STIMATE', 'score': 0.23}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.23}]
chr3 GH03I052847 52847656 52849561 0.63 [{'connected_gene': 'ENSG00000279144', 'score': 550.77}, {'connected_gene': 'ITIH4', 'score': 29.27}, {'connected_gene': 'ITIH1', 'score': 15.02}, {'connected_gene': 'ITIH4-AS1', 'score': 11.86}, {'connected_gene': 'ITIH3', 'score': 10.8}, {'connected_gene': 'STIMATE', 'score': 0.25}, {'connected_gene': 'TMEM110-MUSTN1', 'score': 0.25}]
chr3 GH03I052809 52809905 52810054 0.46 [{'connected_gene': 'PIR44226', 'score': 550.77}, {'connected_gene': 'ITIH3', 'score': 4.62}, {'connected_gene': 'GC03M052810', 'score': 0.77}]

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