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
ENST00000366592 [[236305831, 236306336], [236332005, 236332055], [236341713, 236341936], [236343178, 236343328], [236347077, 236347206], [236368425, 236368550], [236371349, 236372206]] [[236305922, 236306336], [236332005, 236332055], [236341713, 236341936], [236343178, 236343328], [236347077, 236347206], [236368425, 236368550], [236371349, 236371458]]
ENST00000366591 [[236305843, 236306336], [236343178, 236343488]] [[236305922, 236306336], [236343178, 236343466]]
ENST00000419162 [[236306067, 236306336], [236341713, 236341936], [236343178, 236343328], [236347077, 236347206], [236368425, 236368498]] [[236341903, 236341936], [236343178, 236343328], [236347077, 236347206], [236368425, 236368498]]
ENST00000454895 [[236332000, 236332055], [236341713, 236341936], [236343178, 236343328], [236347077, 236347206], [236368425, 236368550], [236371360, 236371782]] [[236332000, 236332055], [236341713, 236341936], [236343178, 236343328], [236347077, 236347206], [236368425, 236368550], [236371360, 236371370]]
ENST00000477559 [[236347077, 236347206], [236368425, 236368550], [236385090, 236385165]] None
NM_003272 [[236305831, 236306336], [236332005, 236332055], [236341713, 236341936], [236343178, 236343328], [236347077, 236347206], [236368425, 236368550], [236371349, 236372209]] [[236305922, 236306336], [236332005, 236332055], [236341713, 236341936], [236343178, 236343328], [236347077, 236347206], [236368425, 236368550], [236371349, 236371458]]
Promoter
Chrom Start End Description
chr1 236305796 236305810 CAGE_peak_2_at_GPR137B_5end
chr1 236305826 236305877 CAGE_peak_1_at_GPR137B_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I236141 236141114 236144055 1.94 [{'connected_gene': 'GPR137B', 'score': 561.57}, {'connected_gene': 'ENSG00000230325', 'score': 15.8}, {'connected_gene': 'ENSG00000273058', 'score': 15.41}, {'connected_gene': 'HEATR1', 'score': 13.41}, {'connected_gene': 'RPS21P1', 'score': 13.1}, {'connected_gene': 'ARID4B', 'score': 12.35}, {'connected_gene': 'MTR', 'score': 11.28}, {'connected_gene': 'LDHAP2', 'score': 10.04}, {'connected_gene': 'TBCE', 'score': 9.79}, {'connected_gene': 'GC01P236268', 'score': 0.13}]
chr1 GH01I236156 236156113 236157348 1.09 [{'connected_gene': 'GPR137B', 'score': 20.86}, {'connected_gene': 'LGALS8', 'score': 1.67}, {'connected_gene': 'LYST', 'score': 1.24}, {'connected_gene': 'GC01P236268', 'score': 0.14}]
chr1 GH01I236159 236159141 236161099 1.29 [{'connected_gene': 'GPR137B', 'score': 14.85}, {'connected_gene': 'LGALS8', 'score': 1.64}, {'connected_gene': 'LYST', 'score': 1.35}, {'connected_gene': 'GC01P236268', 'score': 0.14}]
chr1 GH01I236120 236120401 236121336 0.88 [{'connected_gene': 'GPR137B', 'score': 11.65}, {'connected_gene': 'LGALS8', 'score': 10.31}, {'connected_gene': 'LGALS8-AS1', 'score': 9.98}, {'connected_gene': 'GC01M236115', 'score': 0.77}, {'connected_gene': 'LOC343508', 'score': 0.39}]
chr1 GH01I236496 236496080 236497241 0.56 [{'connected_gene': 'GPR137B', 'score': 16.09}, {'connected_gene': 'LGALS8', 'score': 12.42}, {'connected_gene': 'LGALS8-AS1', 'score': 12.1}, {'connected_gene': 'GC01P236501', 'score': 0.44}, {'connected_gene': 'ENO1P1', 'score': 0.39}]
chr1 GH01I236168 236168861 236169200 1.08 [{'connected_gene': 'GPR137B', 'score': 0.31}, {'connected_gene': 'GC01P236268', 'score': 0.15}]
chr1 GH01I236147 236147681 236147830 0.46 [{'connected_gene': 'GPR137B', 'score': 0.44}, {'connected_gene': 'GC01P236268', 'score': 0.13}]
chr1 GH01I236169 236169241 236169323 0.65 [{'connected_gene': 'GPR137B', 'score': 0.31}, {'connected_gene': 'GC01P236268', 'score': 0.15}]
chr1 GH01I236149 236147941 236148090 0.49 [{'connected_gene': 'GPR137B', 'score': 0.44}, {'connected_gene': 'GC01P236268', 'score': 0.13}]
chr1 GH01I236144 236144841 236144990 0.54 [{'connected_gene': 'GPR137B', 'score': 0.77}, {'connected_gene': 'GC01P236268', 'score': 0.13}]
chr1 GH01I236145 236144561 236144710 0.46 [{'connected_gene': 'GPR137B', 'score': 0.77}, {'connected_gene': 'GC01P236268', 'score': 0.13}]
chr1 GH01I236251 236251306 236251389 0.24 [{'connected_gene': 'ERO1B', 'score': 11.56}, {'connected_gene': 'GPR137B', 'score': 2.09}, {'connected_gene': 'GC01P236268', 'score': 0.37}]
chr1 GH01I236148 236148525 236149974 0.74 [{'connected_gene': 'ARID4B', 'score': 24.0}, {'connected_gene': 'ENSG00000273058', 'score': 22.4}, {'connected_gene': 'GGPS1', 'score': 22.29}, {'connected_gene': 'MTR', 'score': 14.69}, {'connected_gene': 'GPR137B', 'score': 12.87}, {'connected_gene': 'TBCE', 'score': 12.6}, {'connected_gene': 'ENSG00000230325', 'score': 12.24}, {'connected_gene': 'RPS21P1', 'score': 10.57}, {'connected_gene': 'HEATR1', 'score': 10.14}, {'connected_gene': 'GC01P236268', 'score': 0.13}]
chr1 GH01I236162 236162967 236164171 0.86 [{'connected_gene': 'ARID4B', 'score': 63.91}, {'connected_gene': 'ENSG00000273058', 'score': 63.64}, {'connected_gene': 'HEATR1', 'score': 57.82}, {'connected_gene': 'ENSG00000230325', 'score': 50.65}, {'connected_gene': 'RPS21P1', 'score': 47.65}, {'connected_gene': 'MTR', 'score': 31.36}, {'connected_gene': 'GPR137B', 'score': 19.15}, {'connected_gene': 'RPL35P1', 'score': 10.32}, {'connected_gene': 'GC01P236268', 'score': 0.15}]
chr1 GH01I236062 236062800 236069062 2.79 [{'connected_gene': 'NID1', 'score': 555.45}, {'connected_gene': 'GC01P236064', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 66.39}, {'connected_gene': 'ENSG00000273058', 'score': 43.03}, {'connected_gene': 'GGPS1', 'score': 32.23}, {'connected_gene': 'ENSG00000230325', 'score': 27.24}, {'connected_gene': 'HEATR1', 'score': 25.01}, {'connected_gene': 'RPS21P1', 'score': 23.66}, {'connected_gene': 'MTR', 'score': 19.29}, {'connected_gene': 'LYST', 'score': 2.71}, {'connected_gene': 'LGALS8', 'score': 2.56}, {'connected_gene': 'GPR137B', 'score': 2.15}, {'connected_gene': 'LOC343508', 'score': 0.26}]
chr1 GH01I236470 236470811 236472535 0.9 [{'connected_gene': 'LGALS8', 'score': 11.38}, {'connected_gene': 'LGALS8-AS1', 'score': 11.0}, {'connected_gene': 'ENSG00000273058', 'score': 10.89}, {'connected_gene': 'ENSG00000230325', 'score': 10.37}, {'connected_gene': 'GPR137B', 'score': 10.25}, {'connected_gene': 'ERO1B', 'score': 10.24}, {'connected_gene': 'GC01P236477', 'score': 0.44}, {'connected_gene': 'EDARADD', 'score': 0.13}]
chr1 GH01I236415 236415142 236417862 0.88 [{'connected_gene': 'EDARADD', 'score': 27.07}, {'connected_gene': 'LGALS8', 'score': 12.99}, {'connected_gene': 'LGALS8-AS1', 'score': 10.28}, {'connected_gene': 'GPR137B', 'score': 9.81}, {'connected_gene': 'MTR', 'score': 6.31}, {'connected_gene': 'GC01P236477', 'score': 0.21}]
chr1 GH01I235859 235859382 235859518 0.5 [{'connected_gene': 'LYST', 'score': 20.01}, {'connected_gene': 'GPR137B', 'score': 1.44}, {'connected_gene': 'RNU5E-2P', 'score': 0.77}, {'connected_gene': 'MIR1537', 'score': 0.44}]
chr1 GH01I235858 235858602 235859376 1.24 [{'connected_gene': 'LYST', 'score': 12.3}, {'connected_gene': 'GPR137B', 'score': 3.43}, {'connected_gene': 'RNU5E-2P', 'score': 0.77}, {'connected_gene': 'MIR1537', 'score': 0.44}]
chr1 GH01I235916 235916151 235924799 1.75 [{'connected_gene': 'LYST', 'score': 25.51}, {'connected_gene': 'ARID4B', 'score': 13.99}, {'connected_gene': 'RNU5E-2P', 'score': 11.36}, {'connected_gene': 'TBCE', 'score': 9.8}, {'connected_gene': 'ENSG00000229291', 'score': 5.07}, {'connected_gene': 'TOMM20', 'score': 5.01}, {'connected_gene': 'GPR137B', 'score': 2.88}, {'connected_gene': 'EDARADD', 'score': 2.65}, {'connected_gene': 'RNU6-968P', 'score': 0.44}, {'connected_gene': 'ENSG00000237845', 'score': 0.34}, {'connected_gene': 'LOC105373215', 'score': 0.31}, {'connected_gene': 'LOC105373212', 'score': 0.23}]
chr1 GH01I235862 235862151 235869149 2.78 [{'connected_gene': 'LYST', 'score': 573.36}, {'connected_gene': 'ENSG00000273058', 'score': 79.02}, {'connected_gene': 'ARID4B', 'score': 73.36}, {'connected_gene': 'ENSG00000230325', 'score': 53.09}, {'connected_gene': 'RPS21P1', 'score': 47.47}, {'connected_gene': 'MTR', 'score': 44.19}, {'connected_gene': 'HEATR1', 'score': 42.46}, {'connected_gene': 'TBCE', 'score': 40.01}, {'connected_gene': 'GGPS1', 'score': 33.54}, {'connected_gene': 'RNU6-968P', 'score': 12.11}, {'connected_gene': 'LDHAP2', 'score': 10.12}, {'connected_gene': 'GPR137B', 'score': 2.39}, {'connected_gene': 'RNU5E-2P', 'score': 0.77}]
chr1 GH01I235971 235971069 235973170 1.91 [{'connected_gene': 'LOC105373212', 'score': 550.77}, {'connected_gene': 'ENSG00000229291', 'score': 550.77}, {'connected_gene': 'RNU5E-2P', 'score': 11.44}, {'connected_gene': 'GNG4', 'score': 10.14}, {'connected_gene': 'GPR137B', 'score': 3.02}]
chr1 GH01I235986 235986800 235987600 1.2 [{'connected_gene': 'RNU5E-2P', 'score': 10.39}, {'connected_gene': 'GPR137B', 'score': 2.25}, {'connected_gene': 'LOC105373212', 'score': 0.39}, {'connected_gene': 'ENSG00000252822', 'score': 0.19}, {'connected_gene': 'NID1', 'score': 0.18}]
chr1 GH01I236288 236288068 236289071 0.78 [{'connected_gene': 'LOC100130485', 'score': 550.77}, {'connected_gene': 'LDHAP2', 'score': 10.94}, {'connected_gene': 'GPR137B', 'score': 10.42}, {'connected_gene': 'HEATR1', 'score': 10.39}, {'connected_gene': 'ARID4B', 'score': 10.24}, {'connected_gene': 'LYST', 'score': 10.01}, {'connected_gene': 'ENSG00000230325', 'score': 9.79}, {'connected_gene': 'ERO1B', 'score': 6.97}, {'connected_gene': 'EDARADD', 'score': 0.22}]
chr1 GH01I235997 235997715 236002302 1.59 [{'connected_gene': 'ENSG00000273058', 'score': 10.62}, {'connected_gene': 'ENSG00000229291', 'score': 4.91}, {'connected_gene': 'GPR137B', 'score': 2.31}, {'connected_gene': 'LOC105373212', 'score': 0.31}, {'connected_gene': 'ENSG00000252822', 'score': 0.21}, {'connected_gene': 'NID1', 'score': 0.2}]
chr1 GH01I236228 236228601 236228800 0.2 [{'connected_gene': 'GC01P236268', 'score': 0.28}, {'connected_gene': 'ERO1B', 'score': 0.23}, {'connected_gene': 'GPR137B', 'score': 0.17}]
chr1 GH01I236151 236150101 236150250 0.77 [{'connected_gene': 'ENSG00000273058', 'score': 45.58}, {'connected_gene': 'ARID4B', 'score': 45.05}, {'connected_gene': 'ENSG00000230325', 'score': 33.02}, {'connected_gene': 'RPS21P1', 'score': 28.13}, {'connected_gene': 'MTR', 'score': 26.81}, {'connected_gene': 'GGPS1', 'score': 22.29}, {'connected_gene': 'TBCE', 'score': 22.13}, {'connected_gene': 'HEATR1', 'score': 18.24}, {'connected_gene': 'GPR137B', 'score': 17.83}, {'connected_gene': 'GC01P236268', 'score': 0.13}]
chr1 GH01I236150 236150331 236150748 0.69 [{'connected_gene': 'ENSG00000273058', 'score': 25.13}, {'connected_gene': 'ARID4B', 'score': 22.96}, {'connected_gene': 'ENSG00000230325', 'score': 22.63}, {'connected_gene': 'RPS21P1', 'score': 19.32}, {'connected_gene': 'MTR', 'score': 13.97}, {'connected_gene': 'TBCE', 'score': 11.31}, {'connected_gene': 'HEATR1', 'score': 9.81}, {'connected_gene': 'GPR137B', 'score': 0.44}, {'connected_gene': 'GC01P236268', 'score': 0.13}]
chr1 GH01I235983 235983037 235986118 1.24 [{'connected_gene': 'ENSG00000252822', 'score': 11.25}, {'connected_gene': 'NID1', 'score': 11.25}, {'connected_gene': 'RNU5E-2P', 'score': 11.19}, {'connected_gene': 'GNG4', 'score': 10.44}, {'connected_gene': 'ENSG00000229291', 'score': 4.58}, {'connected_gene': 'GPR137B', 'score': 2.73}, {'connected_gene': 'LOC105373212', 'score': 0.39}]