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
ENST00000421915 [[27265231, 27265416], [27274290, 27274422], [27275780, 27276022]] [[27275826, 27276022]]
ENST00000453161 [[27273875, 27273898], [27274290, 27274422], [27275780, 27276041], [27276269, 27276441], [27276763, 27276848]] [[27275826, 27276041], [27276269, 27276441], [27276763, 27276848]]
ENST00000487078 [[27274513, 27274661], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282272], [27290361, 27290514], [27291499, 27291612], [27291915, 27291962], [27292440, 27292574], [27292959, 27293490]] [[27275826, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282272], [27290361, 27290514], [27291499, 27291612], [27291915, 27291962], [27292440, 27292489]]
ENST00000451003 [[27274535, 27274661], [27275200, 27275411], [27275780, 27276024]] [[27275826, 27276024]]
ENST00000477136 [[27274535, 27274661], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278375], [27278549, 27279006], [27279490, 27279864]] None
ENST00000323064 [[27274545, 27274661], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282403]] [[27275826, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282337]]
ENST00000489683 [[27274548, 27274661], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279332]] None
ENST00000360131 [[27274548, 27274661], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282272], [27290361, 27290514], [27291499, 27291612], [27292440, 27292574], [27292959, 27293488]] [[27275826, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282272], [27290361, 27290514], [27291499, 27291612], [27292440, 27292574], [27292959, 27293131]]
ENST00000437006 [[27274772, 27275139], [27275780, 27275902]] [[27275826, 27275902]]
ENST00000441931 [[27282133, 27282272], [27290361, 27290703]] [[27282133, 27282272], [27290361, 27290636]]
NR_138023 [[27274290, 27274422], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282272], [27290361, 27290514], [27291499, 27291612], [27291915, 27291962], [27292440, 27292574], [27292959, 27293490]] None
NM_001035507 [[27274490, 27274661], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282403]] [[27275826, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282337]]
NM_021831 [[27274490, 27274661], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282272], [27290361, 27290514], [27291499, 27291612], [27292440, 27292574], [27292959, 27293490]] [[27275826, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282272], [27290361, 27290514], [27291499, 27291612], [27292440, 27292574], [27292959, 27293131]]
NR_104246 [[27274490, 27274661], [27275780, 27276041], [27276269, 27276441], [27276763, 27276927], [27277497, 27277675], [27277942, 27278121], [27278549, 27279006], [27279490, 27279660], [27280170, 27280306], [27281267, 27281470], [27282057, 27282272], [27290361, 27290514], [27291499, 27291612], [27291915, 27291962], [27292440, 27292574], [27292959, 27293490]] None
Promoter
Chrom Start End Description
chr2 27274506 27274543 CAGE_peak_1_at_AGBL5_5end
chr2 27275941 27275943 CAGE_peak_2_at_AGBL5_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I027719 27719490 27722005 1.66 [{'connected_gene': 'SUPT7L', 'score': 55.03}, {'connected_gene': 'CAD', 'score': 44.01}, {'connected_gene': 'ZNF512', 'score': 39.33}, {'connected_gene': 'EIF2B4', 'score': 35.14}, {'connected_gene': 'GPN1', 'score': 31.87}, {'connected_gene': 'GTF3C2', 'score': 25.12}, {'connected_gene': 'ZNF513', 'score': 24.26}, {'connected_gene': 'AGBL5', 'score': 23.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 22.82}, {'connected_gene': 'LOC105374363', 'score': 18.86}, {'connected_gene': 'ENSG00000272148', 'score': 14.04}, {'connected_gene': 'IFT172', 'score': 12.78}, {'connected_gene': 'PPM1G', 'score': 12.66}, {'connected_gene': 'AGBL5-IT1', 'score': 11.41}, {'connected_gene': 'C2orf16', 'score': 11.21}, {'connected_gene': 'SNX17', 'score': 11.2}, {'connected_gene': 'ENSG00000272056', 'score': 10.72}, {'connected_gene': 'RBKS', 'score': 6.1}, {'connected_gene': 'LINC01460', 'score': 0.77}, {'connected_gene': 'LOC105374378', 'score': 0.77}, {'connected_gene': 'MRPL33', 'score': 0.23}, {'connected_gene': 'GC02M027478', 'score': 0.05}]
chr2 GH02I027040 27040794 27043236 1.03 [{'connected_gene': 'AGBL5', 'score': 550.77}, {'connected_gene': 'TMEM214', 'score': 0.44}]
chr2 GH02I026900 26900836 26901741 0.63 [{'connected_gene': 'DPYSL5', 'score': 11.08}, {'connected_gene': 'MAPRE3', 'score': 10.46}, {'connected_gene': 'LOC100129724', 'score': 10.26}, {'connected_gene': 'LOC105374337', 'score': 9.96}, {'connected_gene': 'AGBL5-AS1', 'score': 9.68}, {'connected_gene': 'AGBL5', 'score': 9.68}, {'connected_gene': 'PREB', 'score': 9.02}, {'connected_gene': 'PIR42524', 'score': 0.77}]
chr2 GH02I027090 27090630 27097200 1.44 [{'connected_gene': 'KHK', 'score': 36.65}, {'connected_gene': 'ABHD1', 'score': 11.1}, {'connected_gene': 'CGREF1', 'score': 11.1}, {'connected_gene': 'ATRAID', 'score': 11.03}, {'connected_gene': 'SLC5A6', 'score': 11.03}, {'connected_gene': 'CAD', 'score': 10.92}, {'connected_gene': 'PRR30', 'score': 10.9}, {'connected_gene': 'TCF23', 'score': 10.87}, {'connected_gene': 'PREB', 'score': 10.8}, {'connected_gene': 'AGBL5-AS1', 'score': 10.44}, {'connected_gene': 'TRIM54', 'score': 10.43}, {'connected_gene': 'UCN', 'score': 10.42}, {'connected_gene': 'MPV17', 'score': 10.42}, {'connected_gene': 'AGBL5', 'score': 10.41}, {'connected_gene': 'SLC30A3', 'score': 10.2}, {'connected_gene': 'DNAJC5G', 'score': 10.2}, {'connected_gene': 'MAPRE3', 'score': 9.96}, {'connected_gene': 'LOC100129724', 'score': 9.81}, {'connected_gene': 'SNX17', 'score': 8.97}, {'connected_gene': 'ZNF513', 'score': 8.88}, {'connected_gene': 'GC02P027111', 'score': 0.37}]
chr2 GH02I026889 26889938 26894009 0.46 [{'connected_gene': 'KHK', 'score': 17.59}, {'connected_gene': 'GTF3C2', 'score': 12.12}, {'connected_gene': 'CAD', 'score': 12.06}, {'connected_gene': 'DPYSL5', 'score': 11.78}, {'connected_gene': 'GPN1', 'score': 11.18}, {'connected_gene': 'EIF2B4', 'score': 11.03}, {'connected_gene': 'MAPRE3', 'score': 10.58}, {'connected_gene': 'LOC100129724', 'score': 10.29}, {'connected_gene': 'LOC105374337', 'score': 10.21}, {'connected_gene': 'KCNK3', 'score': 9.94}, {'connected_gene': 'LOC105374363', 'score': 9.75}, {'connected_gene': 'AGBL5', 'score': 9.71}, {'connected_gene': 'AGBL5-AS1', 'score': 9.71}, {'connected_gene': 'PREB', 'score': 9.13}, {'connected_gene': 'PIR42524', 'score': 0.39}]
chr2 GH02I027055 27055612 27057388 0.78 [{'connected_gene': 'KHK', 'score': 22.74}, {'connected_gene': 'LOC100129724', 'score': 10.75}, {'connected_gene': 'MAPRE3', 'score': 10.65}, {'connected_gene': 'LOC105374337', 'score': 10.24}, {'connected_gene': 'LOC105374363', 'score': 5.06}, {'connected_gene': 'ENSG00000272056', 'score': 0.77}, {'connected_gene': 'AGBL5-IT1', 'score': 0.77}, {'connected_gene': 'AGBL5', 'score': 0.39}]
chr2 GH02I026973 26973993 26975376 0.83 [{'connected_gene': 'KHK', 'score': 38.12}, {'connected_gene': 'LOC100129724', 'score': 11.69}, {'connected_gene': 'LOC105374337', 'score': 11.36}, {'connected_gene': 'AGBL5', 'score': 10.61}, {'connected_gene': 'AGBL5-AS1', 'score': 10.59}, {'connected_gene': 'DPYSL5', 'score': 10.49}, {'connected_gene': 'EMILIN1', 'score': 10.15}, {'connected_gene': 'ATRAID', 'score': 9.25}, {'connected_gene': 'SLC5A6', 'score': 9.25}, {'connected_gene': 'MAPRE3', 'score': 0.77}]
chr2 GH02I026970 26970157 26973097 2.23 [{'connected_gene': 'MAPRE3', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 38.38}, {'connected_gene': 'LOC100129724', 'score': 11.69}, {'connected_gene': 'LOC105374337', 'score': 11.36}, {'connected_gene': 'AGBL5', 'score': 10.6}, {'connected_gene': 'AGBL5-AS1', 'score': 10.59}, {'connected_gene': 'DPYSL5', 'score': 10.49}, {'connected_gene': 'EMILIN1', 'score': 10.14}, {'connected_gene': 'ATRAID', 'score': 9.25}, {'connected_gene': 'SLC5A6', 'score': 9.25}]
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 GH02I027069 27069034 27083953 2.82 [{'connected_gene': 'EMILIN1', 'score': 564.51}, {'connected_gene': 'OST4', 'score': 560.77}, {'connected_gene': 'CAD', 'score': 53.47}, {'connected_gene': 'GTF3C2', 'score': 53.02}, {'connected_gene': 'SNX17', 'score': 47.2}, {'connected_gene': 'NRBP1', 'score': 41.6}, {'connected_gene': 'LOC105374363', 'score': 38.13}, {'connected_gene': 'GPN1', 'score': 36.6}, {'connected_gene': 'KHK', 'score': 34.37}, {'connected_gene': 'TMEM214', 'score': 30.86}, {'connected_gene': 'ATRAID', 'score': 23.51}, {'connected_gene': 'EIF2B4', 'score': 22.95}, {'connected_gene': 'GTF3C2-AS1', 'score': 14.63}, {'connected_gene': 'ZNF513', 'score': 12.84}, {'connected_gene': 'PPM1G', 'score': 11.86}, {'connected_gene': 'HADHA', 'score': 10.3}, {'connected_gene': 'CGREF1', 'score': 3.91}, {'connected_gene': 'CENPA', 'score': 1.74}, {'connected_gene': 'SLC5A6', 'score': 1.23}, {'connected_gene': 'DPYSL5', 'score': 1.21}, {'connected_gene': 'AGBL5', 'score': 0.29}]
chr2 GH02I027059 27059573 27059722 0.38 [{'connected_gene': 'AGBL5-IT1', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 11.0}, {'connected_gene': 'ATRAID', 'score': 10.33}, {'connected_gene': 'SLC5A6', 'score': 10.33}, {'connected_gene': 'LOC100129724', 'score': 10.11}, {'connected_gene': 'MAPRE3', 'score': 10.07}, {'connected_gene': 'LOC105374337', 'score': 10.06}, {'connected_gene': 'ENSG00000272056', 'score': 0.44}, {'connected_gene': 'AGBL5', 'score': 0.37}]
chr2 GH02I026784 26784953 26787262 2.07 [{'connected_gene': 'CENPA', 'score': 564.95}, {'connected_gene': 'ASXL2', 'score': 39.78}, {'connected_gene': 'EIF2B4', 'score': 35.56}, {'connected_gene': 'NRBP1', 'score': 35.38}, {'connected_gene': 'GPN1', 'score': 35.36}, {'connected_gene': 'GTF3C2', 'score': 33.92}, {'connected_gene': 'PPM1G', 'score': 32.7}, {'connected_gene': 'ATRAID', 'score': 28.71}, {'connected_gene': 'CAD', 'score': 20.54}, {'connected_gene': 'GTF3C2-AS1', 'score': 16.15}, {'connected_gene': 'SNX17', 'score': 13.87}, {'connected_gene': 'AGBL5', 'score': 13.32}, {'connected_gene': 'TMEM214', 'score': 12.69}, {'connected_gene': 'LOC105374363', 'score': 12.12}, {'connected_gene': 'HADHA', 'score': 10.3}, {'connected_gene': 'OST4', 'score': 10.06}, {'connected_gene': 'MAPRE3', 'score': 9.92}, {'connected_gene': 'SLC35F6', 'score': 4.69}, {'connected_gene': 'CDKN2AIPNLP2', 'score': 0.26}]
chr2 GH02I026981 26981930 26983102 1 [{'connected_gene': 'LOC105374337', 'score': 11.79}, {'connected_gene': 'LOC100129724', 'score': 11.37}, {'connected_gene': 'AGBL5', 'score': 10.6}, {'connected_gene': 'AGBL5-AS1', 'score': 10.58}, {'connected_gene': 'DPYSL5', 'score': 9.96}, {'connected_gene': 'MAPRE3', 'score': 0.39}]
chr2 GH02I026977 26977463 26978922 0.9 [{'connected_gene': 'LOC105374337', 'score': 11.4}, {'connected_gene': 'LOC100129724', 'score': 11.32}, {'connected_gene': 'AGBL5', 'score': 10.65}, {'connected_gene': 'AGBL5-AS1', 'score': 10.63}, {'connected_gene': 'MAPRE3', 'score': 0.44}]
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 GH02I026988 26988553 26988702 0.62 [{'connected_gene': 'LOC100129724', 'score': 11.9}, {'connected_gene': 'LOC105374337', 'score': 11.82}, {'connected_gene': 'AGBL5', 'score': 10.92}, {'connected_gene': 'AGBL5-AS1', 'score': 10.9}, {'connected_gene': 'DPYSL5', 'score': 10.24}, {'connected_gene': 'SLC5A6', 'score': 9.71}, {'connected_gene': 'ATRAID', 'score': 9.71}, {'connected_gene': 'MAPRE3', 'score': 0.37}]
chr2 GH02I026976 26976313 26976562 0.38 [{'connected_gene': 'LOC100129724', 'score': 11.71}, {'connected_gene': 'LOC105374337', 'score': 11.38}, {'connected_gene': 'AGBL5', 'score': 10.61}, {'connected_gene': 'AGBL5-AS1', 'score': 10.6}, {'connected_gene': 'DPYSL5', 'score': 10.49}, {'connected_gene': 'EMILIN1', 'score': 10.15}, {'connected_gene': 'KHK', 'score': 9.87}, {'connected_gene': 'ATRAID', 'score': 9.25}, {'connected_gene': 'SLC5A6', 'score': 9.25}, {'connected_gene': 'MAPRE3', 'score': 0.44}]
chr2 GH02I027031 27031794 27034531 2.22 [{'connected_gene': 'GC02M027029', 'score': 550.77}, {'connected_gene': 'TMEM214', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 43.38}, {'connected_gene': 'EMILIN1', 'score': 10.77}, {'connected_gene': 'SLC5A6', 'score': 10.39}, {'connected_gene': 'ATRAID', 'score': 10.39}, {'connected_gene': 'AGBL5', 'score': 0.44}]
chr2 GH02I027062 27062341 27064322 0.89 [{'connected_gene': 'ENSG00000272148', 'score': 550.77}, {'connected_gene': 'KHK', 'score': 43.94}, {'connected_gene': 'ATRAID', 'score': 10.34}, {'connected_gene': 'SLC5A6', 'score': 10.34}, {'connected_gene': 'LOC100129724', 'score': 10.1}, {'connected_gene': 'MAPRE3', 'score': 10.06}, {'connected_gene': 'LOC105374337', 'score': 10.04}, {'connected_gene': 'TRIM54', 'score': 9.69}, {'connected_gene': 'UCN', 'score': 9.68}, {'connected_gene': 'MPV17', 'score': 9.68}, {'connected_gene': 'ZNF512', 'score': 4.03}, {'connected_gene': 'OST4', 'score': 0.44}, {'connected_gene': 'AGBL5', 'score': 0.34}]

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