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
ENST00000401533 [[26395959, 26396201], [26399212, 26399353], [26405835, 26405966], [26407101, 26408145], [26409057, 26409227], [26410099, 26412532]] [[26396089, 26396201], [26399212, 26399353], [26405835, 26405966], [26407101, 26408145], [26409057, 26409227], [26410099, 26411126]]
ENST00000407684 [[26403584, 26405362], [26405835, 26405966], [26407101, 26408145], [26409057, 26409227], [26410099, 26410184], [26410583, 26412513]] [[26405340, 26405362], [26405835, 26405966], [26407101, 26408145], [26409057, 26409227], [26410099, 26410184], [26410583, 26411126]]
ENST00000496070 [[26408100, 26408145], [26410099, 26410327]] None
NM_001168241 [[26395959, 26396201], [26399212, 26399353], [26405835, 26405966], [26407101, 26408145], [26409057, 26409227], [26410099, 26412532]] [[26396089, 26396201], [26399212, 26399353], [26405835, 26405966], [26407101, 26408145], [26409057, 26409227], [26410099, 26411126]]
NM_001191033 [[26403584, 26405362], [26405835, 26405966], [26407101, 26408145], [26409057, 26409227], [26410099, 26410184], [26410583, 26412532]] [[26405340, 26405362], [26405835, 26405966], [26407101, 26408145], [26409057, 26409227], [26410099, 26410184], [26410583, 26411126]]
Promoter
Chrom Start End Description
chr2 26395939 26396015 CAGE_peak_2_at_FAM59B_5end
chr2 26407857 26407913 CAGE_peak_1_at_FAM59B_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I026493 26493537 26493898 0.64 [{'connected_gene': 'OTOF', 'score': 17.16}, {'connected_gene': 'C2orf70', 'score': 11.3}, {'connected_gene': 'RAB10', 'score': 5.89}, {'connected_gene': 'GAREM2', 'score': 1.98}, {'connected_gene': 'DRC1', 'score': 0.16}]
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 GH02I026028 26028002 26028399 0.51 [{'connected_gene': 'TRMT112P6', 'score': 550.77}, {'connected_gene': 'GAREM2', 'score': 4.6}, {'connected_gene': 'GC02M025991', 'score': 0.77}, {'connected_gene': 'GC02P025994', 'score': 0.29}]
chr2 GH02I026052 26052058 26053788 0.38 [{'connected_gene': 'KIF3C', 'score': 10.86}, {'connected_gene': 'GAREM2', 'score': 9.19}, {'connected_gene': 'GC02P026059', 'score': 0.44}, {'connected_gene': 'LOC105374333', 'score': 0.44}, {'connected_gene': 'RAB10', 'score': 0.37}]
chr2 GH02I026015 26015368 26015923 0.31 [{'connected_gene': 'KIF3C', 'score': 11.31}, {'connected_gene': 'RNU6-942P', 'score': 11.18}, {'connected_gene': 'GAREM2', 'score': 4.75}, {'connected_gene': 'TRMT112P6', 'score': 0.39}, {'connected_gene': 'GC02M025991', 'score': 0.37}, {'connected_gene': 'GC02P025994', 'score': 0.34}]
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 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 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 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 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 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 GH02I026074 26074601 26075520 0.76 [{'connected_gene': 'GAREM2', 'score': 6.91}, {'connected_gene': 'GC02P026059', 'score': 0.37}, {'connected_gene': 'RPS2P15', 'score': 0.31}, {'connected_gene': 'LOC105374333', 'score': 0.31}, {'connected_gene': 'RAB10', 'score': 0.26}]
chr2 GH02I026081 26081401 26082200 0.58 [{'connected_gene': 'GAREM2', 'score': 6.83}, {'connected_gene': 'GC02P026059', 'score': 0.34}, {'connected_gene': 'RPS2P15', 'score': 0.34}, {'connected_gene': 'LOC105374333', 'score': 0.28}, {'connected_gene': 'RAB10', 'score': 0.25}]
chr2 GH02I026171 26171592 26171741 0.67 [{'connected_gene': 'GAREM2', 'score': 550.77}, {'connected_gene': 'GC02M026166', 'score': 0.77}, {'connected_gene': 'GC02P026059', 'score': 0.14}]
chr2 GH02I026172 26172800 26173276 1.65 [{'connected_gene': 'GAREM2', 'score': 550.77}, {'connected_gene': 'GC02M026166', 'score': 0.44}, {'connected_gene': 'GC02P026059', 'score': 0.14}]
chr2 GH02I026032 26032284 26036690 2.6 [{'connected_gene': 'RAB10', 'score': 565.24}, {'connected_gene': 'SLC35F6', 'score': 10.03}, {'connected_gene': 'GAREM2', 'score': 8.43}, {'connected_gene': 'GC02P026043', 'score': 0.44}]
chr2 GH02I025999 25999803 26003999 1.52 [{'connected_gene': 'RAB10', 'score': 16.67}, {'connected_gene': 'RNU6-942P', 'score': 12.23}, {'connected_gene': 'ASXL2', 'score': 10.64}, {'connected_gene': 'DNMT3A', 'score': 9.93}, {'connected_gene': 'GAREM2', 'score': 6.01}, {'connected_gene': 'GC02P025994', 'score': 0.44}, {'connected_gene': 'GC02M025991', 'score': 0.31}, {'connected_gene': 'TRMT112P6', 'score': 0.31}]
chr2 GH02I026011 26011045 26014067 1.67 [{'connected_gene': 'RAB10', 'score': 17.16}, {'connected_gene': 'RNU6-942P', 'score': 12.76}, {'connected_gene': 'KIF3C', 'score': 11.33}, {'connected_gene': 'SLC35F6', 'score': 10.03}, {'connected_gene': 'GAREM2', 'score': 5.45}, {'connected_gene': 'GC02P025994', 'score': 0.37}, {'connected_gene': 'GC02M025991', 'score': 0.37}, {'connected_gene': 'TRMT112P6', 'score': 0.37}]
chr2 GH02I026007 26007602 26010399 1.46 [{'connected_gene': 'RAB10', 'score': 26.99}, {'connected_gene': 'RNU6-942P', 'score': 12.76}, {'connected_gene': 'KIF3C', 'score': 11.45}, {'connected_gene': 'GAREM2', 'score': 4.48}, {'connected_gene': 'GC02P025994', 'score': 0.39}, {'connected_gene': 'TRMT112P6', 'score': 0.37}, {'connected_gene': 'GC02M025991', 'score': 0.34}]
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 GH02I026105 26105690 26105943 0.22 [{'connected_gene': 'RAB10', 'score': 13.86}, {'connected_gene': 'RNU6-942P', 'score': 11.29}, {'connected_gene': 'KIF3C', 'score': 10.92}, {'connected_gene': 'GAREM2', 'score': 7.17}, {'connected_gene': 'RPS2P15', 'score': 0.77}, {'connected_gene': 'LOC391359', 'score': 0.28}, {'connected_gene': 'GC02P026059', 'score': 0.25}]
chr2 GH02I025997 25997401 25999000 1.73 [{'connected_gene': 'RAB10', 'score': 28.49}, {'connected_gene': 'RNU6-942P', 'score': 12.23}, {'connected_gene': 'DNMT3A', 'score': 12.13}, {'connected_gene': 'GAREM2', 'score': 4.89}, {'connected_gene': 'GC02P025994', 'score': 0.77}, {'connected_gene': 'TRMT112P6', 'score': 0.29}, {'connected_gene': 'GC02M025991', 'score': 0.29}]
chr2 GH02I026008 26007001 26007200 0.4 [{'connected_gene': 'RAB10', 'score': 12.23}, {'connected_gene': 'RNU6-942P', 'score': 12.19}, {'connected_gene': 'GAREM2', 'score': 4.48}, {'connected_gene': 'GC02P025994', 'score': 0.39}, {'connected_gene': 'TRMT112P6', 'score': 0.34}, {'connected_gene': 'GC02M025991', 'score': 0.34}]
chr2 GH02I026019 26019990 26020981 0.72 [{'connected_gene': 'RNU6-942P', 'score': 12.41}, {'connected_gene': 'KIF3C', 'score': 10.89}, {'connected_gene': 'GAREM2', 'score': 5.27}, {'connected_gene': 'TRMT112P6', 'score': 0.44}, {'connected_gene': 'GC02M025991', 'score': 0.39}, {'connected_gene': 'GC02P025994', 'score': 0.31}]
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 GH02I026016 26016106 26017219 0.94 [{'connected_gene': 'RNU6-942P', 'score': 11.59}, {'connected_gene': 'KIF3C', 'score': 11.31}, {'connected_gene': 'RAB10', 'score': 5.9}, {'connected_gene': 'GAREM2', 'score': 4.48}, {'connected_gene': 'TRMT112P6', 'score': 0.39}, {'connected_gene': 'GC02M025991', 'score': 0.39}, {'connected_gene': 'GC02P025994', 'score': 0.34}]
chr2 GH02I026017 26017228 26019557 1.65 [{'connected_gene': 'RNU6-942P', 'score': 12.41}, {'connected_gene': 'KIF3C', 'score': 11.22}, {'connected_gene': 'RAB10', 'score': 8.63}, {'connected_gene': 'GAREM2', 'score': 7.51}, {'connected_gene': 'TRMT112P6', 'score': 0.39}, {'connected_gene': 'GC02M025991', 'score': 0.39}, {'connected_gene': 'GC02P025994', 'score': 0.34}]
chr2 GH02I026092 26092019 26093187 0.38 [{'connected_gene': 'RNU6-942P', 'score': 11.57}, {'connected_gene': 'RAB10', 'score': 11.55}, {'connected_gene': 'KIF3C', 'score': 11.03}, {'connected_gene': 'GAREM2', 'score': 7.25}, {'connected_gene': 'RPS2P15', 'score': 0.44}, {'connected_gene': 'GC02P026059', 'score': 0.29}, {'connected_gene': 'LOC105374333', 'score': 0.25}]
chr2 GH02I026086 26086030 26087061 1.09 [{'connected_gene': 'RNU6-942P', 'score': 11.96}, {'connected_gene': 'RAB10', 'score': 11.93}, {'connected_gene': 'KIF3C', 'score': 10.59}, {'connected_gene': 'GAREM2', 'score': 7.24}, {'connected_gene': 'RPS2P15', 'score': 0.37}, {'connected_gene': 'GC02P026059', 'score': 0.31}, {'connected_gene': 'LOC105374333', 'score': 0.26}]
chr2 GH02I026063 26063796 26065587 0.72 [{'connected_gene': 'RNU6-942P', 'score': 12.4}, {'connected_gene': 'RAB10', 'score': 12.35}, {'connected_gene': 'GAREM2', 'score': 9.21}, {'connected_gene': 'GC02P026059', 'score': 0.44}, {'connected_gene': 'LOC105374333', 'score': 0.37}, {'connected_gene': 'RPS2P15', 'score': 0.28}]
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 GH02I027049 27049448 27052689 2.14 [{'connected_gene': 'AGBL5-AS1', 'score': 550.77}, {'connected_gene': 'TRY-GTA2-1', 'score': 550.77}, {'connected_gene': 'PIR59385', 'score': 550.77}, {'connected_gene': 'PIR54422', 'score': 550.77}, {'connected_gene': 'GC02P027055', 'score': 550.77}, {'connected_gene': 'AGBL5', 'score': 550.44}, {'connected_gene': 'IFT172', 'score': 45.83}, {'connected_gene': 'SUPT7L', 'score': 45.46}, {'connected_gene': 'ZNF512', 'score': 45.05}, {'connected_gene': 'CAD', 'score': 41.46}, {'connected_gene': 'KHK', 'score': 33.18}, {'connected_gene': 'NRBP1', 'score': 32.98}, {'connected_gene': 'GPN1', 'score': 31.21}, {'connected_gene': 'GTF3C2', 'score': 28.57}, {'connected_gene': 'EIF2B4', 'score': 28.04}, {'connected_gene': 'SNX17', 'score': 23.97}, {'connected_gene': 'ENSG00000272148', 'score': 23.34}, {'connected_gene': 'LOC105374363', 'score': 22.62}, {'connected_gene': 'TMEM214', 'score': 21.0}, {'connected_gene': 'ATRAID', 'score': 20.31}, {'connected_gene': 'GAREM2', 'score': 12.12}, {'connected_gene': 'AGBL5-IT1', 'score': 11.82}, {'connected_gene': 'ENSG00000272056', 'score': 11.47}, {'connected_gene': 'ZNF513', 'score': 11.12}, {'connected_gene': 'MPV17', 'score': 10.35}, {'connected_gene': 'RPS2P15', 'score': 9.84}, {'connected_gene': 'SLC5A6', 'score': 5.23}]
chr2 GH02I026305 26305176 26305855 0.4 [{'connected_gene': 'GC02M026305', 'score': 550.77}, {'connected_gene': 'GAREM2', 'score': 5.41}, {'connected_gene': 'SELENOI', 'score': 0.77}, {'connected_gene': 'LOC105374334', 'score': 0.44}, {'connected_gene': 'GC02P026059', 'score': 0.07}]
chr2 GH02I026083 26083973 26085411 0.52 [{'connected_gene': 'ENSG00000272148', 'score': 11.82}, {'connected_gene': 'GAREM2', 'score': 7.24}, {'connected_gene': 'RPS2P15', 'score': 0.37}, {'connected_gene': 'GC02P026059', 'score': 0.31}, {'connected_gene': 'LOC105374333', 'score': 0.28}, {'connected_gene': 'RAB10', 'score': 0.23}]
chr2 GH02I026058 26058243 26059549 0.77 [{'connected_gene': 'GC02P026059', 'score': 550.77}, {'connected_gene': 'RAB10', 'score': 12.47}, {'connected_gene': 'GAREM2', 'score': 8.32}, {'connected_gene': 'LOC105374333', 'score': 0.39}]
chr2 GH02I026041 26041563 26042668 0.38 [{'connected_gene': 'GC02P026043', 'score': 550.77}, {'connected_gene': 'RNU6-942P', 'score': 550.77}, {'connected_gene': 'KIF3C', 'score': 11.36}, {'connected_gene': 'GAREM2', 'score': 6.96}, {'connected_gene': 'RAB10', 'score': 0.44}]
chr2 GH02I026043 26043667 26045037 1.22 [{'connected_gene': 'GC02P026043', 'score': 550.77}, {'connected_gene': 'RNU6-942P', 'score': 550.77}, {'connected_gene': 'LOC105374333', 'score': 550.77}, {'connected_gene': 'GAREM2', 'score': 7.2}, {'connected_gene': 'RAB10', 'score': 0.39}]

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