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
ENST00000504830 [[33523639, 33527471], [33534937, 33535097], [33546163, 33546307], [33549311, 33549488], [33561131, 33561284], [33576158, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33624335, 33624456], [33630884, 33631018], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33881223, 33881585], [33891834, 33892297]] [[33527292, 33527471], [33534937, 33535097], [33546163, 33546307], [33549311, 33549488], [33561131, 33561284], [33576158, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33624335, 33624456], [33630884, 33631018], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33881223, 33881585], [33891834, 33891961]]
ENST00000352040 [[33527285, 33527471], [33534937, 33535097], [33546163, 33546307], [33549311, 33549488], [33561131, 33561284], [33576158, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33881223, 33881585], [33891834, 33892046]] [[33527292, 33527471], [33534937, 33535097], [33546163, 33546307], [33549311, 33549488], [33561131, 33561284], [33576158, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33881223, 33881585], [33891834, 33891961]]
ENST00000504582 [[33577067, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33624335, 33624456], [33630884, 33631018], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33840248, 33840417]] None
ENST00000515401 [[33751302, 33751653], [33881223, 33881585], [33891834, 33892124]] [[33751443, 33751653], [33881223, 33881585], [33891834, 33891961]]
ENST00000506952 [[33603546, 33603830], [33614342, 33614481], [33615932, 33616177], [33624335, 33624456]] None
ENST00000509762 [[33880968, 33881585], [33891623, 33891713]] None
NM_030955 [[33523639, 33527471], [33534937, 33535097], [33546163, 33546307], [33549311, 33549488], [33561131, 33561284], [33576158, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33624335, 33624456], [33630884, 33631018], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33881223, 33881585], [33891834, 33892297]] [[33527292, 33527471], [33534937, 33535097], [33546163, 33546307], [33549311, 33549488], [33561131, 33561284], [33576158, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33624335, 33624456], [33630884, 33631018], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33881223, 33881585], [33891834, 33891961]]
NM_001324512 [[33523639, 33527471], [33534937, 33535097], [33546163, 33546307], [33549311, 33549488], [33561131, 33561284], [33576158, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33881223, 33881585], [33891834, 33892297]] [[33527292, 33527471], [33534937, 33535097], [33546163, 33546307], [33549311, 33549488], [33561131, 33561284], [33576158, 33577265], [33588703, 33588914], [33596038, 33596165], [33614342, 33614481], [33615932, 33616177], [33637681, 33637851], [33641914, 33642060], [33643482, 33643575], [33648926, 33649071], [33649658, 33649802], [33658288, 33658438], [33662020, 33662145], [33683122, 33683206], [33683963, 33684160], [33751508, 33751653], [33881223, 33881585], [33891834, 33891961]]
NM_001324511 [[33751301, 33751653], [33881223, 33881585], [33891834, 33892297]] [[33751443, 33751653], [33881223, 33881585], [33891834, 33891961]]
Promoter
Chrom Start End Description
chr5 33892081 33892101 CAGE_peak_1_at_ADAMTS12_5end
chr5 33892102 33892117 CAGE_peak_3_at_ADAMTS12_5end
chr5 33892118 33892144 CAGE_peak_2_at_ADAMTS12_5end
chr5 33892167 33892190 CAGE_peak_4_at_ADAMTS12_5end
chr5 33892204 33892218 CAGE_peak_6_at_ADAMTS12_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I033806 33806260 33811596 1.14 [{'connected_gene': 'ADAMTS12', 'score': 13.12}, {'connected_gene': 'RAI14', 'score': 5.04}, {'connected_gene': 'PIR33064', 'score': 0.29}, {'connected_gene': 'ST3GAL5P1', 'score': 0.1}]
chr5 GH05I033798 33798602 33802114 0.43 [{'connected_gene': 'ADAMTS12', 'score': 17.88}, {'connected_gene': 'RNU6-923P', 'score': 10.53}, {'connected_gene': 'RAI14', 'score': 4.14}, {'connected_gene': 'PIR33064', 'score': 0.26}, {'connected_gene': 'ST3GAL5P1', 'score': 0.11}]
chr5 GH05I033649 33649179 33651387 0.31 [{'connected_gene': 'ADAMTS12', 'score': 9.48}, {'connected_gene': 'RNU6-923P', 'score': 9.48}, {'connected_gene': 'ST3GAL5P1', 'score': 0.44}, {'connected_gene': 'GC05M033523', 'score': 0.13}]
chr5 GH05I033787 33787464 33790338 0.91 [{'connected_gene': 'ADAMTS12', 'score': 18.82}, {'connected_gene': 'RNU6-923P', 'score': 9.86}, {'connected_gene': 'PIR33064', 'score': 0.23}, {'connected_gene': 'ST3GAL5P1', 'score': 0.12}]
chr5 GH05I033823 33823986 33825632 0.77 [{'connected_gene': 'ADAMTS12', 'score': 35.49}, {'connected_gene': 'RNU6-923P', 'score': 10.48}, {'connected_gene': 'PIR33064', 'score': 0.37}, {'connected_gene': 'ST3GAL5P1', 'score': 0.1}]
chr5 GH05I033888 33888627 33893612 1.84 [{'connected_gene': 'ADAMTS12', 'score': 550.77}, {'connected_gene': 'GC05M033888', 'score': 0.77}, {'connected_gene': 'RNU6-923P', 'score': 0.77}]
chr5 GH05I033735 33735593 33737402 0.38 [{'connected_gene': 'ADAMTS12', 'score': 6.6}, {'connected_gene': 'ST3GAL5P1', 'score': 0.18}, {'connected_gene': 'PIR33064', 'score': 0.14}]
chr5 GH05I033826 33826958 33827765 0.2 [{'connected_gene': 'ADAMTS12', 'score': 11.09}, {'connected_gene': 'PIR33064', 'score': 0.37}, {'connected_gene': 'ST3GAL5P1', 'score': 0.09}]
chr5 GH05I033780 33780264 33782148 0.83 [{'connected_gene': 'ADAMTS12', 'score': 6.96}, {'connected_gene': 'PIR33064', 'score': 0.21}, {'connected_gene': 'ST3GAL5P1', 'score': 0.13}]
chr5 GH05I033783 33783431 33784301 0.2 [{'connected_gene': 'ADAMTS12', 'score': 5.91}, {'connected_gene': 'PIR33064', 'score': 0.22}, {'connected_gene': 'ST3GAL5P1', 'score': 0.13}]
chr5 GH05I033792 33792639 33796140 0.66 [{'connected_gene': 'ADAMTS12', 'score': 5.63}, {'connected_gene': 'PIR33064', 'score': 0.25}, {'connected_gene': 'ST3GAL5P1', 'score': 0.12}]
chr5 GH05I033710 33710877 33712205 0.2 [{'connected_gene': 'ADAMTS12', 'score': 4.07}, {'connected_gene': 'ST3GAL5P1', 'score': 0.23}, {'connected_gene': 'PIR33064', 'score': 0.12}]
chr5 GH05I033772 33772197 33773037 0.2 [{'connected_gene': 'ADAMTS12', 'score': 7.27}, {'connected_gene': 'PIR33064', 'score': 0.19}, {'connected_gene': 'ST3GAL5P1', 'score': 0.13}]
chr5 GH05I033675 33675944 33676322 0.63 [{'connected_gene': 'RXFP3', 'score': 10.59}, {'connected_gene': 'ADAMTS12', 'score': 10.59}, {'connected_gene': 'RNU6-923P', 'score': 10.59}, {'connected_gene': 'ST3GAL5P1', 'score': 0.37}, {'connected_gene': 'PIR33064', 'score': 0.1}]
chr5 GH05I033931 33931276 33931408 0.2 [{'connected_gene': 'RNU6-923P', 'score': 11.14}, {'connected_gene': 'ADAMTS12', 'score': 11.06}, {'connected_gene': 'RXFP3', 'score': 0.44}, {'connected_gene': 'PIR31924', 'score': 0.34}]
chr5 GH05I033816 33816163 33818870 0.63 [{'connected_gene': 'RNU6-923P', 'score': 11.1}, {'connected_gene': 'ADAMTS12', 'score': 10.28}, {'connected_gene': 'RAI14', 'score': 4.66}, {'connected_gene': 'PIR33064', 'score': 0.31}, {'connected_gene': 'ST3GAL5P1', 'score': 0.1}]
chr5 GH05I033929 33929440 33930827 0.54 [{'connected_gene': 'RNU6-923P', 'score': 11.14}, {'connected_gene': 'ADAMTS12', 'score': 11.06}, {'connected_gene': 'DNAJC21', 'score': 4.59}, {'connected_gene': 'RXFP3', 'score': 0.44}, {'connected_gene': 'PIR31924', 'score': 0.34}]
chr5 GH05I033686 33686016 33686105 0.2 [{'connected_gene': 'RNU6-923P', 'score': 9.95}, {'connected_gene': 'ADAMTS12', 'score': 9.95}, {'connected_gene': 'ST3GAL5P1', 'score': 0.31}, {'connected_gene': 'PIR33064', 'score': 0.1}]
chr5 GH05I033859 33859201 33859400 0.31 [{'connected_gene': 'RNU6-923P', 'score': 11.76}, {'connected_gene': 'ADAMTS12', 'score': 10.99}, {'connected_gene': 'PIR33064', 'score': 0.37}, {'connected_gene': 'PIR46912', 'score': 0.34}]
chr5 GH05I033725 33725355 33726679 0.31 [{'connected_gene': 'ST3GAL5P1', 'score': 0.2}, {'connected_gene': 'PIR33064', 'score': 0.13}, {'connected_gene': 'ADAMTS12', 'score': 0.1}]
chr5 GH05I033611 33611729 33613331 0.2 [{'connected_gene': 'ST3GAL5P1', 'score': 0.26}, {'connected_gene': 'GC05M033523', 'score': 0.17}, {'connected_gene': 'ADAMTS12', 'score': 0.06}]
chr5 GH05I033690 33690416 33692507 0.31 [{'connected_gene': 'ST3GAL5P1', 'score': 0.29}, {'connected_gene': 'PIR33064', 'score': 0.1}, {'connected_gene': 'ADAMTS12', 'score': 0.08}]
chr5 GH05I033734 33734716 33734865 0.2 [{'connected_gene': 'ST3GAL5P1', 'score': 0.18}, {'connected_gene': 'PIR33064', 'score': 0.14}, {'connected_gene': 'ADAMTS12', 'score': 0.1}]
chr5 GH05I033642 33642216 33642465 0.54 [{'connected_gene': 'ST3GAL5P1', 'score': 0.39}, {'connected_gene': 'GC05M033523', 'score': 0.13}, {'connected_gene': 'ADAMTS12', 'score': 0.07}]
chr5 GH05I033687 33687933 33689158 0.2 [{'connected_gene': 'ST3GAL5P1', 'score': 0.29}, {'connected_gene': 'PIR33064', 'score': 0.1}, {'connected_gene': 'ADAMTS12', 'score': 0.08}]
chr5 GH05I033679 33679671 33680323 0.2 [{'connected_gene': 'ST3GAL5P1', 'score': 0.34}, {'connected_gene': 'PIR33064', 'score': 0.1}, {'connected_gene': 'ADAMTS12', 'score': 0.08}]
chr5 GH05I033719 33719445 33720861 0.2 [{'connected_gene': 'ST3GAL5P1', 'score': 0.21}, {'connected_gene': 'PIR33064', 'score': 0.13}, {'connected_gene': 'ADAMTS12', 'score': 0.09}]
chr5 GH05I033832 33832430 33835450 0.92 [{'connected_gene': 'PIR33064', 'score': 0.44}, {'connected_gene': 'ADAMTS12', 'score': 0.22}, {'connected_gene': 'ST3GAL5P1', 'score': 0.1}]
chr5 GH05I033854 33854002 33856550 0.94 [{'connected_gene': 'PIR33064', 'score': 0.39}, {'connected_gene': 'PIR46912', 'score': 0.34}, {'connected_gene': 'ADAMTS12', 'score': 0.28}]
chr5 GH05I033852 33852882 33853845 0.2 [{'connected_gene': 'PIR33064', 'score': 0.39}, {'connected_gene': 'PIR46912', 'score': 0.31}, {'connected_gene': 'ADAMTS12', 'score': 0.28}]
chr5 GH05I033851 33851596 33852665 0.31 [{'connected_gene': 'PIR33064', 'score': 0.44}, {'connected_gene': 'PIR46912', 'score': 0.31}, {'connected_gene': 'ADAMTS12', 'score': 0.26}]
chr5 GH05I033900 33900779 33901811 0.2 [{'connected_gene': 'GC05P033906', 'score': 0.77}, {'connected_gene': 'ADAMTS12', 'score': 0.44}]
chr5 GH05I033849 33849839 33851233 1.25 [{'connected_gene': 'PIR33064', 'score': 0.44}, {'connected_gene': 'PIR46912', 'score': 0.31}, {'connected_gene': 'ADAMTS12', 'score': 0.26}]
chr5 GH05I033841 33841388 33842265 0.64 [{'connected_gene': 'PIR33064', 'score': 550.77}, {'connected_gene': 'RNU6-923P', 'score': 10.67}, {'connected_gene': 'ADAMTS12', 'score': 10.65}, {'connected_gene': 'ST3GAL5P1', 'score': 0.09}]
chr5 GH05I033883 33883249 33884275 0.31 [{'connected_gene': 'PIR46912', 'score': 0.77}, {'connected_gene': 'GC05M033888', 'score': 0.77}, {'connected_gene': 'RNU6-923P', 'score': 0.77}, {'connected_gene': 'ADAMTS12', 'score': 0.44}]
chr5 GH05I033842 33842869 33844023 0.63 [{'connected_gene': 'PIR33064', 'score': 550.77}, {'connected_gene': 'RNU6-923P', 'score': 11.22}, {'connected_gene': 'ADAMTS12', 'score': 10.72}, {'connected_gene': 'PIR46912', 'score': 0.28}]
chr5 GH05I033564 33564676 33564785 0.2 [{'connected_gene': 'GC05M033523', 'score': 0.28}, {'connected_gene': 'ST3GAL5P1', 'score': 0.16}, {'connected_gene': 'ADAMTS12', 'score': 0.05}]
chr5 GH05I033761 33761336 33761445 0.31 [{'connected_gene': 'PIR33064', 'score': 0.18}, {'connected_gene': 'ST3GAL5P1', 'score': 0.15}, {'connected_gene': 'ADAMTS12', 'score': 0.12}]
chr5 GH05I033565 33564001 33564200 0.43 [{'connected_gene': 'GC05M033523', 'score': 0.28}, {'connected_gene': 'ST3GAL5P1', 'score': 0.16}, {'connected_gene': 'ADAMTS12', 'score': 0.05}]

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