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
ENST00000448743 [[26466037, 26466137], [26477114, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501488]] [[26477122, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501488]]
ENST00000317799 [[26467762, 26467858], [26477114, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26513336]] [[26477122, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26512821]]
ENST00000479347 [[26467787, 26467858], [26477114, 26477186], [26477297, 26477824]] None
ENST00000405867 [[26467793, 26467858], [26477114, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26513280]] [[26477122, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26512821]]
ENST00000537713 [[26467816, 26467858], [26477114, 26477186], [26477297, 26477342], [26486247, 26486347], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26512910]] [[26477122, 26477186], [26477297, 26477342], [26486247, 26486347], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26512821]]
ENST00000545822 [[26467829, 26467858], [26477114, 26477186], [26477297, 26477342], [26483848, 26483931], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26513171]] [[26483888, 26483931], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26512821]]
ENST00000425035 [[26467846, 26468007], [26477114, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501566]] [[26477122, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501566]]
ENST00000412805 [[26467997, 26468309], [26477114, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865]] [[26477122, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865]]
ENST00000494615 [[26483405, 26484461], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26513332]] None
NM_001281512 [[26467615, 26467858], [26477114, 26477186], [26477297, 26477342], [26486247, 26486347], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26513333]] [[26477122, 26477186], [26477297, 26477342], [26486247, 26486347], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26512821]]
NM_000183 [[26467615, 26467858], [26477114, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26513333]] [[26477122, 26477186], [26477297, 26477342], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26512821]]
NM_001281513 [[26467615, 26467858], [26477114, 26477186], [26477297, 26477342], [26483848, 26483931], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26513333]] [[26483888, 26483931], [26486247, 26486347], [26492820, 26492865], [26496518, 26496618], [26499940, 26500028], [26501481, 26501669], [26502002, 26502183], [26502861, 26502983], [26505712, 26505792], [26505871, 26505919], [26506984, 26507072], [26507750, 26507825], [26508274, 26508439], [26512785, 26512821]]
Promoter
Chrom Start End Description
chr2 26467253 26467283 CAGE_peak_4_at_HADHB_5end
chr2 26467599 26467631 CAGE_peak_3_at_HADHB_5end
chr2 26467762 26467817 CAGE_peak_1_at_HADHB_5end
chr2 26467825 26467841 CAGE_peak_2_at_HADHB_5end
chr2 26492664 26492712 CAGE_peak_8_at_HADHB_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I026454 26454715 26458420 1.04 [{'connected_gene': 'DRC1', 'score': 10.92}, {'connected_gene': 'HADHB', 'score': 4.38}, {'connected_gene': 'OTOF', 'score': 0.15}]
chr2 GH02I026438 26438073 26439835 0.46 [{'connected_gene': 'DRC1', 'score': 11.03}, {'connected_gene': 'HADHA', 'score': 9.99}, {'connected_gene': 'HADHB', 'score': 9.99}, {'connected_gene': 'CENPA', 'score': 4.8}, {'connected_gene': 'OTOF', 'score': 0.13}]
chr2 GH02I026184 26184510 26186420 1.41 [{'connected_gene': 'SELENOI', 'score': 10.57}, {'connected_gene': 'KIF3C', 'score': 10.57}, {'connected_gene': 'ADGRF3', 'score': 10.54}, {'connected_gene': 'HADHB', 'score': 10.39}, {'connected_gene': 'HADHA', 'score': 10.39}, {'connected_gene': 'GAREM2', 'score': 8.3}, {'connected_gene': 'GC02P026194', 'score': 0.44}, {'connected_gene': 'GC02P026059', 'score': 0.13}]
chr2 GH02I026283 26283013 26283162 0.2 [{'connected_gene': 'SELENOI', 'score': 11.81}, {'connected_gene': 'HADHB', 'score': 11.27}, {'connected_gene': 'HADHA', 'score': 11.27}, {'connected_gene': 'LOC105374334', 'score': 0.37}, {'connected_gene': 'GC02P026059', 'score': 0.07}]
chr2 GH02I026284 26283215 26284601 0.4 [{'connected_gene': 'HADHB', 'score': 19.14}, {'connected_gene': 'SELENOI', 'score': 12.66}, {'connected_gene': 'HADHA', 'score': 11.66}, {'connected_gene': 'ADGRF3', 'score': 10.79}, {'connected_gene': 'LOC105374334', 'score': 0.39}, {'connected_gene': 'GC02P026059', 'score': 0.07}]
chr2 GH02I026260 26260902 26260961 0.5 [{'connected_gene': 'HADHB', 'score': 550.37}, {'connected_gene': 'SELENOI', 'score': 11.69}, {'connected_gene': 'HADHA', 'score': 0.37}, {'connected_gene': 'LOC105374334', 'score': 0.28}, {'connected_gene': 'GC02P026059', 'score': 0.08}]
chr2 GH02I026276 26276105 26276787 0.43 [{'connected_gene': 'HADHB', 'score': 12.02}, {'connected_gene': 'HADHA', 'score': 12.02}, {'connected_gene': 'LOC105374334', 'score': 0.34}, {'connected_gene': 'GC02P026059', 'score': 0.08}]
chr2 GH02I026164 26164149 26164832 0.56 [{'connected_gene': 'HADHB', 'score': 8.05}, {'connected_gene': 'GAREM2', 'score': 7.56}, {'connected_gene': 'GC02M026166', 'score': 0.77}, {'connected_gene': 'PPIL1P1', 'score': 0.77}, {'connected_gene': 'GC02P026059', 'score': 0.14}]
chr2 GH02I026251 26251556 26252362 0.4 [{'connected_gene': 'HADHA', 'score': 11.81}, {'connected_gene': 'SELENOI', 'score': 10.71}, {'connected_gene': 'ADGRF3', 'score': 10.64}, {'connected_gene': 'HADHB', 'score': 0.44}, {'connected_gene': 'LOC105374334', 'score': 0.25}, {'connected_gene': 'GC02P026059', 'score': 0.08}]
chr2 GH02I026272 26272686 26275856 1.31 [{'connected_gene': 'HADHA', 'score': 11.69}, {'connected_gene': 'ASXL2', 'score': 9.68}, {'connected_gene': 'HADHB', 'score': 8.9}, {'connected_gene': 'GAREM2', 'score': 7.5}, {'connected_gene': 'LOC105374334', 'score': 0.34}, {'connected_gene': 'GC02P026059', 'score': 0.08}]
chr2 GH02I026242 26242047 26247582 2.3 [{'connected_gene': 'HADHA', 'score': 562.71}, {'connected_gene': 'HADHB', 'score': 550.77}, {'connected_gene': 'CAD', 'score': 36.2}, {'connected_gene': 'TMEM214', 'score': 22.21}, {'connected_gene': 'DNMT3A', 'score': 21.86}, {'connected_gene': 'ASXL2', 'score': 15.51}, {'connected_gene': 'ATRAID', 'score': 12.26}, {'connected_gene': 'RPS2P15', 'score': 9.93}, {'connected_gene': 'GAREM2', 'score': 9.61}, {'connected_gene': 'LOC105374334', 'score': 0.23}, {'connected_gene': 'GC02P026059', 'score': 0.09}]
chr2 GH02I026292 26292365 26293336 0.97 [{'connected_gene': 'HADHA', 'score': 23.18}, {'connected_gene': 'HADHB', 'score': 22.76}, {'connected_gene': 'ADGRF3', 'score': 11.0}, {'connected_gene': 'LOC105374334', 'score': 0.44}, {'connected_gene': 'GC02P026059', 'score': 0.07}]
chr2 GH02I026178 26178557 26180386 0.76 [{'connected_gene': 'HADHA', 'score': 20.96}, {'connected_gene': 'HADHB', 'score': 10.55}, {'connected_gene': 'GAREM2', 'score': 9.99}, {'connected_gene': 'CENPA', 'score': 5.12}, {'connected_gene': 'GC02P026194', 'score': 0.39}, {'connected_gene': 'GC02P026059', 'score': 0.13}]
chr2 GH02I026268 26268333 26268482 0.57 [{'connected_gene': 'HADHA', 'score': 0.34}, {'connected_gene': 'HADHB', 'score': 0.31}, {'connected_gene': 'LOC105374334', 'score': 0.29}, {'connected_gene': 'GC02P026059', 'score': 0.08}]
chr2 GH02I026240 26240618 26241662 0.59 [{'connected_gene': 'HADHA', 'score': 9.75}, {'connected_gene': 'GAREM2', 'score': 9.02}, {'connected_gene': 'HADHB', 'score': 8.08}, {'connected_gene': 'GC02P026215', 'score': 0.31}, {'connected_gene': 'GC02P026059', 'score': 0.09}]
chr2 GH02I026362 26362790 26364097 0.9 [{'connected_gene': 'GTF3C2', 'score': 20.49}, {'connected_gene': 'HADHB', 'score': 15.82}, {'connected_gene': 'CAD', 'score': 15.61}, {'connected_gene': 'LOC105374363', 'score': 14.34}, {'connected_gene': 'TMEM214', 'score': 13.03}, {'connected_gene': 'ADGRF3', 'score': 11.66}, {'connected_gene': 'ASXL2', 'score': 11.44}, {'connected_gene': 'GTF3C2-AS1', 'score': 10.63}, {'connected_gene': 'HADHA', 'score': 10.47}, {'connected_gene': 'RPS2P15', 'score': 9.85}, {'connected_gene': 'GC02M026396', 'score': 0.29}, {'connected_gene': 'SELENOI', 'score': 0.23}]
chr2 GH02I026342 26342621 26348918 2.32 [{'connected_gene': 'ADGRF3', 'score': 561.71}, {'connected_gene': 'SELENOI', 'score': 559.44}, {'connected_gene': 'CAD', 'score': 47.42}, {'connected_gene': 'ASXL2', 'score': 25.4}, {'connected_gene': 'TMEM214', 'score': 25.06}, {'connected_gene': 'GTF3C2-AS1', 'score': 16.15}, {'connected_gene': 'ENSG00000272148', 'score': 14.03}, {'connected_gene': 'AGBL5', 'score': 13.28}, {'connected_gene': 'KIF3C', 'score': 13.11}, {'connected_gene': 'GAREM2', 'score': 12.19}, {'connected_gene': 'AGBL5-IT1', 'score': 11.41}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'SLC35F6', 'score': 10.05}, {'connected_gene': 'ATRAID', 'score': 9.71}, {'connected_gene': 'HADHB', 'score': 5.01}, {'connected_gene': 'GC02M026310', 'score': 0.29}]
chr2 GH02I026338 26338908 26341167 0.72 [{'connected_gene': 'ADGRF3', 'score': 11.44}, {'connected_gene': 'SELENOI', 'score': 10.18}, {'connected_gene': 'HADHB', 'score': 5.72}, {'connected_gene': 'GC02M026310', 'score': 0.31}]
chr2 GH02I026269 26269035 26270929 1.06 [{'connected_gene': 'GAREM2', 'score': 7.34}, {'connected_gene': 'HADHB', 'score': 7.31}, {'connected_gene': 'LOC105374334', 'score': 0.31}, {'connected_gene': 'HADHA', 'score': 0.31}, {'connected_gene': 'GC02P026059', 'score': 0.08}]
chr2 GH02I026066 26066938 26070693 1.62 [{'connected_gene': 'RAB10', 'score': 24.14}, {'connected_gene': 'RNU6-942P', 'score': 12.43}, {'connected_gene': 'KIF3C', 'score': 10.71}, {'connected_gene': 'GAREM2', 'score': 9.36}, {'connected_gene': 'HADHB', 'score': 5.74}, {'connected_gene': 'GC02P026059', 'score': 0.44}, {'connected_gene': 'LOC105374333', 'score': 0.34}, {'connected_gene': 'RPS2P15', 'score': 0.29}]
chr2 GH02I026143 26143632 26145392 0.97 [{'connected_gene': 'RNU6-942P', 'score': 11.12}, {'connected_gene': 'KIF3C', 'score': 11.12}, {'connected_gene': 'RAB10', 'score': 11.11}, {'connected_gene': 'HADHB', 'score': 10.55}, {'connected_gene': 'HADHA', 'score': 10.54}, {'connected_gene': 'GAREM2', 'score': 8.05}, {'connected_gene': 'SMARCE1P6', 'score': 0.77}, {'connected_gene': 'LOC391359', 'score': 0.77}, {'connected_gene': 'GC02P026059', 'score': 0.17}]
chr2 GH02I026717 26717182 26727327 1.91 [{'connected_gene': 'CENPA', 'score': 20.77}, {'connected_gene': 'EIF2B4', 'score': 20.39}, {'connected_gene': 'GPN1', 'score': 14.33}, {'connected_gene': 'GTF3C2', 'score': 14.08}, {'connected_gene': 'CAD', 'score': 13.17}, {'connected_gene': 'KCNK3', 'score': 12.61}, {'connected_gene': 'SLC35F6', 'score': 12.04}, {'connected_gene': 'GTF3C2-AS1', 'score': 11.2}, {'connected_gene': 'NRBP1', 'score': 10.94}, {'connected_gene': 'C2orf70', 'score': 10.85}, {'connected_gene': 'OTOF', 'score': 10.84}, {'connected_gene': 'ASXL2', 'score': 10.74}, {'connected_gene': 'MAPRE3', 'score': 9.38}, {'connected_gene': 'KHK', 'score': 6.89}, {'connected_gene': 'DPYSL5', 'score': 5.26}, {'connected_gene': 'HADHB', 'score': 4.66}, {'connected_gene': 'ADGRF3', 'score': 2.86}, {'connected_gene': 'HADHA', 'score': 2.5}, {'connected_gene': 'ATRAID', 'score': 1.31}, {'connected_gene': 'GC02P026705', 'score': 0.37}]
chr2 GH02I026298 26298201 26301492 1.4 [{'connected_gene': 'LOC105374334', 'score': 550.77}, {'connected_gene': 'HADHB', 'score': 21.42}, {'connected_gene': 'HADHA', 'score': 20.29}, {'connected_gene': 'ADGRF3', 'score': 18.59}, {'connected_gene': 'DRC1', 'score': 10.72}, {'connected_gene': 'GAREM2', 'score': 7.05}, {'connected_gene': 'GC02M026305', 'score': 0.44}, {'connected_gene': 'GC02P026059', 'score': 0.07}]
chr2 GH02I026312 26312511 26313182 0.2 [{'connected_gene': 'GC02M026310', 'score': 550.77}, {'connected_gene': 'HADHA', 'score': 18.47}, {'connected_gene': 'ADGRF3', 'score': 11.47}, {'connected_gene': 'HADHB', 'score': 11.46}, {'connected_gene': 'SELENOI', 'score': 0.77}, {'connected_gene': 'GC02P026059', 'score': 0.07}]

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