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
ENST00000404648 [[155525285, 155525506], [155526048, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155534001]] [[155525491, 155525506], [155526048, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533761]]
ENST00000492082 [[155525316, 155525506], [155526048, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155531349], [155532956, 155533050], [155533169, 155533587], [155533683, 155533811]] None
ENST00000465913 [[155525322, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530995]] None
ENST00000405164 [[155525324, 155525506], [155526048, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530939], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533795]] [[155525491, 155525506], [155526048, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530939], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533761]]
ENST00000336098 [[155525727, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533800]] [[155525985, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533761]]
ENST00000407946 [[155525761, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530939], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533787]] [[155525985, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530939], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533761]]
ENST00000443553 [[155529790, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533319], [155533542, 155533587], [155533896, 155534119]] [[155529790, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533048]]
ENST00000393846 [[155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533896, 155533949]] [[155530781, 155530915], [155531218, 155531349], [155532956, 155533048]]
ENST00000464532 [[155531094, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533808]] None
ENST00000473393 [[155532387, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533787]] None
ENST00000465336 [[155532990, 155533587], [155533683, 155533808]] None
ENST00000484695 [[155533124, 155533353], [155533542, 155533587], [155533683, 155533763]] None
NM_000509 [[155525285, 155525506], [155526048, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533960]] [[155525491, 155525506], [155526048, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533761]]
NM_021870 [[155525727, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533902]] [[155525985, 155526218], [155527856, 155528134], [155529617, 155529802], [155530781, 155530915], [155531218, 155531349], [155532956, 155533050], [155533169, 155533353], [155533542, 155533587], [155533683, 155533761]]
Promoter
Chrom Start End Description
chr4 155530853 155530879 CAGE_peak_3_at_FGG_5end
chr4 155530888 155530899 CAGE_peak_8_at_FGG_5end
chr4 155531252 155531269 CAGE_peak_7_at_FGG_5end
chr4 155531281 155531308 CAGE_peak_6_at_FGG_5end
chr4 155531315 155531320 CAGE_peak_12_at_FGG_5end
chr4 155531321 155531329 CAGE_peak_10_at_FGG_5end
chr4 155533201 155533255 CAGE_peak_4_at_FGG_5end
chr4 155533262 155533272 CAGE_peak_9_at_FGG_5end
chr4 155533277 155533357 CAGE_peak_2_at_FGG_5end
chr4 155533359 155533365 CAGE_peak_13_at_FGG_5end
chr4 155533567 155533596 CAGE_peak_5_at_FGG_5end
chr4 155533798 155533816 CAGE_peak_1_at_FGG_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr4 GH04I154552 154552400 154552600 0.69 [{'connected_gene': 'LRAT', 'score': 11.6}, {'connected_gene': 'FGG', 'score': 10.96}, {'connected_gene': 'LOC100422640', 'score': 0.77}, {'connected_gene': 'PLRG1', 'score': 0.77}]
chr4 GH04I154741 154740789 154740848 0.68 [{'connected_gene': 'LRAT', 'score': 560.82}, {'connected_gene': 'PIR56291', 'score': 550.77}, {'connected_gene': 'GC04M154774', 'score': 550.77}, {'connected_gene': 'GC04M154753', 'score': 550.77}, {'connected_gene': 'PIR62406', 'score': 550.77}, {'connected_gene': 'GC04M154751', 'score': 550.77}, {'connected_gene': 'PIR52192', 'score': 550.77}, {'connected_gene': 'PIR61545', 'score': 550.77}, {'connected_gene': 'GC04M154758', 'score': 550.77}, {'connected_gene': 'GC04M154737', 'score': 550.77}, {'connected_gene': 'PIR31824', 'score': 550.77}, {'connected_gene': 'PIR47588', 'score': 550.77}, {'connected_gene': 'LOC105377500', 'score': 10.99}, {'connected_gene': 'RBM46', 'score': 10.99}, {'connected_gene': 'FGG', 'score': 9.72}]
chr4 GH04I154549 154549311 154551173 1.94 [{'connected_gene': 'PLRG1', 'score': 559.42}, {'connected_gene': 'FGG', 'score': 28.25}, {'connected_gene': 'LRAT', 'score': 11.59}, {'connected_gene': 'GC04M154544', 'score': 0.44}, {'connected_gene': 'RNU6-1285P', 'score': 0.44}]
chr4 GH04I154553 154552189 154552358 0.7 [{'connected_gene': 'PLRG1', 'score': 550.77}, {'connected_gene': 'FGG', 'score': 24.9}, {'connected_gene': 'LRAT', 'score': 11.6}, {'connected_gene': 'LOC100422640', 'score': 0.77}]
chr4 GH04I154616 154616416 154618782 0.95 [{'connected_gene': 'PLRG1', 'score': 9.67}, {'connected_gene': 'FGG', 'score': 0.77}, {'connected_gene': 'LRAT', 'score': 0.44}]
chr4 GH04I154559 154559582 154561299 0.94 [{'connected_gene': 'FGG', 'score': 16.79}, {'connected_gene': 'PLRG1', 'score': 11.66}, {'connected_gene': 'FGB', 'score': 0.77}, {'connected_gene': 'LOC100422640', 'score': 0.44}]
chr4 GH04I154612 154612033 154613870 1.78 [{'connected_gene': 'FGG', 'score': 550.77}, {'connected_gene': 'FGA', 'score': 0.34}]
chr4 GH04I154615 154615380 154615519 0.39 [{'connected_gene': 'FGB', 'score': 3.98}, {'connected_gene': 'FGA', 'score': 3.51}, {'connected_gene': 'FGG', 'score': 3.45}, {'connected_gene': 'LRAT', 'score': 0.39}]
chr4 GH04I154589 154589172 154592491 1.63 [{'connected_gene': 'FGA', 'score': 550.77}, {'connected_gene': 'FGG', 'score': 8.97}, {'connected_gene': 'LRAT', 'score': 4.68}]
chr4 GH04I154598 154598138 154598369 0.92 [{'connected_gene': 'FGA', 'score': 21.23}, {'connected_gene': 'FGB', 'score': 19.11}, {'connected_gene': 'FGG', 'score': 17.28}, {'connected_gene': 'LRAT', 'score': 10.14}]
chr4 GH04I154740 154740983 154742984 0.63 [{'connected_gene': 'PIR56291', 'score': 550.77}, {'connected_gene': 'GC04M154774', 'score': 550.77}, {'connected_gene': 'GC04M154753', 'score': 550.77}, {'connected_gene': 'PIR62406', 'score': 550.77}, {'connected_gene': 'GC04M154751', 'score': 550.77}, {'connected_gene': 'PIR52192', 'score': 550.77}, {'connected_gene': 'PIR61545', 'score': 550.77}, {'connected_gene': 'GC04M154758', 'score': 550.77}, {'connected_gene': 'PIR31824', 'score': 550.77}, {'connected_gene': 'PIR47588', 'score': 550.77}, {'connected_gene': 'LOC105377500', 'score': 11.01}, {'connected_gene': 'RBM46', 'score': 11.01}, {'connected_gene': 'LRAT', 'score': 10.81}, {'connected_gene': 'FGG', 'score': 9.72}]