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
ENST00000369287 [[115880620, 115884985], [115885644, 115885864], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904375], [115905307, 115905520], [115910850, 115910979], [115917312, 115917439], [115922395, 115923088], [115933773, 115933979]] [[115884901, 115884985], [115885644, 115885864], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904375], [115905307, 115905520], [115910850, 115910979], [115917312, 115917439], [115922395, 115923027]]
ENST00000543782 [[115884687, 115884985], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904361]] [[115884954, 115884985], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904270]]
ENST00000428953 [[115884687, 115884985], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904361]] [[115884954, 115884985], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904361]]
ENST00000497592 [[115889957, 115890428], [115890905, 115891095]] None
ENST00000490661 [[115890784, 115891095], [115891687, 115891853]] None
ENST00000369285 [[115921366, 115923088], [115932899, 115933024], [115933773, 115933961]] [[115922391, 115923027]]
ENST00000369286 [[115921366, 115923088], [115933773, 115933979]] [[115922391, 115923027]]
NR_135815 [[115880620, 115884985], [115885644, 115885864], [115889649, 115890428], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904375], [115905307, 115905520], [115910850, 115910979], [115917312, 115917439], [115922395, 115923088], [115932899, 115933024], [115933773, 115933979]] None
NM_001321829 [[115880620, 115884985], [115885644, 115885864], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904375], [115905307, 115905520], [115910850, 115910979], [115917312, 115917439], [115922395, 115923088], [115932899, 115933024], [115933773, 115933979]] [[115884901, 115884985], [115885644, 115885864], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904375], [115905307, 115905520], [115910850, 115910979], [115917312, 115917439], [115922395, 115923027]]
NM_018017 [[115880620, 115884985], [115885644, 115885864], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904375], [115905307, 115905520], [115910850, 115910979], [115917312, 115917439], [115922395, 115923088], [115933773, 115933979]] [[115884901, 115884985], [115885644, 115885864], [115887219, 115887430], [115889649, 115889730], [115890905, 115891095], [115891687, 115891943], [115894671, 115894814], [115895649, 115895736], [115895906, 115896005], [115896944, 115897049], [115904255, 115904375], [115905307, 115905520], [115910850, 115910979], [115917312, 115917439], [115922395, 115923027]]
NM_153249 [[115921366, 115923088], [115932899, 115933024], [115933773, 115933979]] [[115922391, 115923027]]
Promoter
Chrom Start End Description
chr10 115904361 115904375 CAGE_peak_2_at_C10orf118_5end
chr10 115933942 115933996 CAGE_peak_1_at_C10orf118_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr10 GH10I113851 113851174 113857105 2.26 [{'connected_gene': 'DCLRE1A', 'score': 558.96}, {'connected_gene': 'NHLRC2', 'score': 550.77}, {'connected_gene': 'CCDC186', 'score': 22.01}, {'connected_gene': 'FAM160B1', 'score': 12.84}, {'connected_gene': 'LOC105378488', 'score': 10.71}, {'connected_gene': 'TCF7L2', 'score': 10.45}, {'connected_gene': 'ENSG00000212589', 'score': 0.29}]
chr10 GH10I113678 113678582 113682698 2.57 [{'connected_gene': 'CASP7', 'score': 593.07}, {'connected_gene': 'LOC105378488', 'score': 10.71}, {'connected_gene': 'CCDC186', 'score': 10.09}, {'connected_gene': 'ENSG00000234393', 'score': 0.28}]
chr10 GH10I114163 114163863 114164139 0.39 [{'connected_gene': 'PLEKHS1', 'score': 2.79}, {'connected_gene': 'ENSG00000273904', 'score': 0.77}, {'connected_gene': 'CCDC186', 'score': 0.39}, {'connected_gene': 'UBE2V1P5', 'score': 0.25}]
chr10 GH10I114647 114647149 114649122 1.3 [{'connected_gene': 'FAM160B1', 'score': 15.72}, {'connected_gene': 'CCDC186', 'score': 12.61}, {'connected_gene': 'PPIAP19', 'score': 0.26}, {'connected_gene': 'ENSG00000229668', 'score': 0.11}, {'connected_gene': 'ABLIM1', 'score': 0.09}]
chr10 GH10I114228 114228302 114228451 0.38 [{'connected_gene': 'TDRD1', 'score': 11.14}, {'connected_gene': 'PLEKHS1', 'score': 8.68}, {'connected_gene': 'VWA2', 'score': 0.39}, {'connected_gene': 'CCDC186', 'score': 0.23}]
chr10 GH10I114181 114181716 114183299 0.93 [{'connected_gene': 'TDRD1', 'score': 550.44}, {'connected_gene': 'CCDC186', 'score': 0.44}, {'connected_gene': 'VWA2', 'score': 0.22}]
chr10 GH10I114179 114179304 114179363 0.86 [{'connected_gene': 'TDRD1', 'score': 550.77}, {'connected_gene': 'CCDC186', 'score': 0.77}, {'connected_gene': 'VWA2', 'score': 0.22}]
chr10 GH10I114130 114130842 114131598 0.31 [{'connected_gene': 'TDRD1', 'score': 10.85}, {'connected_gene': 'VWA2', 'score': 10.28}, {'connected_gene': 'PLEKHS1', 'score': 10.15}, {'connected_gene': 'UBE2V1P5', 'score': 0.39}, {'connected_gene': 'ENSG00000273904', 'score': 0.28}, {'connected_gene': 'CCDC186', 'score': 0.26}]
chr10 GH10I114150 114150949 114152403 0.52 [{'connected_gene': 'TDRD1', 'score': 21.5}, {'connected_gene': 'VWA2', 'score': 19.56}, {'connected_gene': 'RNU6-709P', 'score': 11.51}, {'connected_gene': 'ADRB1', 'score': 10.09}, {'connected_gene': 'ENSG00000273904', 'score': 0.37}, {'connected_gene': 'CCDC186', 'score': 0.34}, {'connected_gene': 'UBE2V1P5', 'score': 0.29}]
chr10 GH10I114171 114171806 114175451 2.01 [{'connected_gene': 'TDRD1', 'score': 560.45}, {'connected_gene': 'MIR2110', 'score': 550.77}, {'connected_gene': 'GC10M114175', 'score': 550.77}, {'connected_gene': 'CCDC186', 'score': 550.77}, {'connected_gene': 'VWA2', 'score': 8.93}, {'connected_gene': 'ENSG00000273904', 'score': 0.44}]
chr10 GH10I114649 114649601 114649800 0.98 [{'connected_gene': 'CCDC186', 'score': 13.7}, {'connected_gene': 'PPIAP19', 'score': 0.26}, {'connected_gene': 'ENSG00000229668', 'score': 0.11}, {'connected_gene': 'ABLIM1', 'score': 0.09}]
chr10 GH10I115050 115050239 115051569 0.54 [{'connected_gene': 'CCDC186', 'score': 10.03}, {'connected_gene': 'GC10P115026', 'score': 0.34}, {'connected_gene': 'LOC105378496', 'score': 0.28}]
chr10 GH10I114751 114751679 114752647 0.54 [{'connected_gene': 'CCDC186', 'score': 13.14}, {'connected_gene': 'LOC101927692', 'score': 0.39}, {'connected_gene': 'PPIAP19', 'score': 0.21}, {'connected_gene': 'ABLIM1', 'score': 0.2}]
chr10 GH10I114537 114537874 114545575 1.4 [{'connected_gene': 'ABLIM1', 'score': 23.87}, {'connected_gene': 'CCDC186', 'score': 2.07}, {'connected_gene': 'FAM160B1', 'score': 1.42}, {'connected_gene': 'ENSG00000229668', 'score': 0.28}, {'connected_gene': 'PPIAP19', 'score': 0.11}]
chr10 GH10I114595 114595651 114598126 0.46 [{'connected_gene': 'ABLIM1', 'score': 11.64}, {'connected_gene': 'CCDC186', 'score': 9.79}, {'connected_gene': 'PPIAP19', 'score': 0.16}, {'connected_gene': 'ENSG00000229668', 'score': 0.16}]
chr10 GH10I114496 114496547 114501492 1.84 [{'connected_gene': 'ABLIM1', 'score': 569.85}, {'connected_gene': 'CCDC186', 'score': 1.59}, {'connected_gene': 'ENSG00000229668', 'score': 0.77}, {'connected_gene': 'GC10M114474', 'score': 0.34}]
chr10 GH10I114239 114239085 114240450 1.48 [{'connected_gene': 'VWA2', 'score': 550.77}, {'connected_gene': 'TDRD1', 'score': 16.52}, {'connected_gene': 'FAM160B1', 'score': 12.97}, {'connected_gene': 'CCDC186', 'score': 12.77}, {'connected_gene': 'AURKAPS2', 'score': 0.44}]
chr10 GH10I114042 114042482 114047579 1.54 [{'connected_gene': 'ADRB1', 'score': 557.93}, {'connected_gene': 'GC10P114045', 'score': 550.77}, {'connected_gene': 'GC10M114041', 'score': 550.77}, {'connected_gene': 'CCDC186', 'score': 13.78}]
chr10 GH10I114165 114165677 114166887 0.62 [{'connected_gene': 'ENSG00000273904', 'score': 550.77}, {'connected_gene': 'VWA2', 'score': 8.91}, {'connected_gene': 'TDRD1', 'score': 6.44}, {'connected_gene': 'CCDC186', 'score': 0.44}, {'connected_gene': 'UBE2V1P5', 'score': 0.25}]