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
ENST00000366607 [[235272650, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285687], [235291909, 235292251]] [[235275378, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285687], [235291909, 235292030]]
ENST00000467767 [[235275339, 235275423], [235277082, 235277225], [235282653, 235282721], [235283132, 235283214]] None
ENST00000473132 [[235275417, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285774]] None
NM_014765 [[235272655, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285687], [235291909, 235292256]] [[235275378, 235275423], [235277082, 235277225], [235283132, 235283214], [235285640, 235285687], [235291909, 235292030]]
Promoter
Chrom Start End Description
chr1 235292114 235292129 CAGE_peak_2_at_TOMM20_5end
chr1 235292137 235292170 CAGE_peak_1_at_TOMM20_5end
chr1 235292180 235292191 CAGE_peak_3_at_TOMM20_5end
chr1 235292221 235292237 CAGE_peak_4_at_TOMM20_5end
chr1 235292250 235292261 CAGE_peak_5_at_TOMM20_5end

Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I235126 235126709 235131259 2.12 [{'connected_gene': 'TOMM20', 'score': 556.05}, {'connected_gene': 'LOC105379283', 'score': 550.77}, {'connected_gene': 'GC01M235128', 'score': 550.77}, {'connected_gene': 'SNORA14B', 'score': 550.77}, {'connected_gene': 'GC01M235129', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 62.06}, {'connected_gene': 'RPS21P1', 'score': 35.37}, {'connected_gene': 'IRF2BP2', 'score': 21.3}, {'connected_gene': 'LDHAP2', 'score': 19.23}, {'connected_gene': 'GGPS1', 'score': 17.91}, {'connected_gene': 'LYST', 'score': 9.99}, {'connected_gene': 'TBCE', 'score': 9.83}, {'connected_gene': 'TARBP1', 'score': 9.78}, {'connected_gene': 'RBM34', 'score': 9.49}, {'connected_gene': 'GC01P235131', 'score': 0.77}]
chr1 GH01I234822 234822578 234824324 0.51 [{'connected_gene': 'TOMM20', 'score': 5.47}, {'connected_gene': 'RNY4P16', 'score': 0.39}, {'connected_gene': 'PIR47455', 'score': 0.23}]
chr1 GH01I234815 234814812 234818604 1.18 [{'connected_gene': 'TOMM20', 'score': 5.14}, {'connected_gene': 'RNY4P16', 'score': 0.34}, {'connected_gene': 'PIR47455', 'score': 0.25}]
chr1 GH01I234824 234824547 234828059 0.38 [{'connected_gene': 'TOMM20', 'score': 5.51}, {'connected_gene': 'RNY4P16', 'score': 0.39}, {'connected_gene': 'PIR47455', 'score': 0.22}]
chr1 GH01I235321 235321824 235323511 0.43 [{'connected_gene': 'GGPS1', 'score': 15.7}, {'connected_gene': 'ARID4B', 'score': 10.32}, {'connected_gene': 'B3GALNT2', 'score': 7.58}, {'connected_gene': 'ENSG00000227962', 'score': 5.61}, {'connected_gene': 'TOMM20', 'score': 4.45}, {'connected_gene': 'GC01M235309', 'score': 0.39}]
chr1 GH01I235207 235207306 235207455 0.56 [{'connected_gene': 'SNORA14B', 'score': 11.69}, {'connected_gene': 'TOMM20', 'score': 11.69}, {'connected_gene': 'GGPS1', 'score': 11.51}, {'connected_gene': 'ARID4B', 'score': 11.51}, {'connected_gene': 'MIR4753', 'score': 0.37}, {'connected_gene': 'GC01P235225', 'score': 0.37}]
chr1 GH01I235101 235100226 235100395 0.72 [{'connected_gene': 'SNORA14B', 'score': 12.22}, {'connected_gene': 'TOMM20', 'score': 12.22}, {'connected_gene': 'GGPS1', 'score': 6.91}, {'connected_gene': 'ENSG00000233018', 'score': 0.77}, {'connected_gene': 'ENSG00000273416', 'score': 0.77}]
chr1 GH01I235199 235199309 235200209 0.46 [{'connected_gene': 'SNORA14B', 'score': 11.36}, {'connected_gene': 'TOMM20', 'score': 11.36}, {'connected_gene': 'ARID4B', 'score': 9.72}, {'connected_gene': 'MIR4753', 'score': 0.44}, {'connected_gene': 'GC01P235225', 'score': 0.31}]
chr1 GH01I235100 235100485 235100722 0.75 [{'connected_gene': 'SNORA14B', 'score': 12.22}, {'connected_gene': 'TOMM20', 'score': 12.22}, {'connected_gene': 'ENSG00000233018', 'score': 0.77}, {'connected_gene': 'ENSG00000273416', 'score': 0.77}]
chr1 GH01I235259 235259197 235259927 0.72 [{'connected_gene': 'ARID4B', 'score': 11.83}, {'connected_gene': 'GGPS1', 'score': 11.83}, {'connected_gene': 'SNORA14B', 'score': 10.2}, {'connected_gene': 'TOMM20', 'score': 10.2}, {'connected_gene': 'GC01P235225', 'score': 0.29}, {'connected_gene': 'RPL23AP23', 'score': 0.28}]
chr1 GH01I235072 235072202 235085478 1.77 [{'connected_gene': 'ARID4B', 'score': 17.77}, {'connected_gene': 'TBCE', 'score': 13.78}, {'connected_gene': 'TOMM20', 'score': 5.1}, {'connected_gene': 'GGPS1', 'score': 5.06}, {'connected_gene': 'IRF2BP2', 'score': 2.51}, {'connected_gene': 'LINC01348', 'score': 0.77}, {'connected_gene': 'ENSG00000233018', 'score': 0.37}]
chr1 GH01I235206 235206866 235207015 0.74 [{'connected_gene': 'ARID4B', 'score': 26.22}, {'connected_gene': 'SNORA14B', 'score': 11.69}, {'connected_gene': 'TOMM20', 'score': 11.69}, {'connected_gene': 'GGPS1', 'score': 11.51}, {'connected_gene': 'RPS21P1', 'score': 10.58}, {'connected_gene': 'MIR4753', 'score': 0.37}, {'connected_gene': 'GC01P235225', 'score': 0.37}]
chr1 GH01I235442 235442322 235443809 1.02 [{'connected_gene': 'ARID4B', 'score': 13.68}, {'connected_gene': 'RPS21P1', 'score': 12.75}, {'connected_gene': 'TOMM20', 'score': 10.46}, {'connected_gene': 'SNORA14B', 'score': 10.46}, {'connected_gene': 'TBCE', 'score': 8.26}, {'connected_gene': 'GC01M235462', 'score': 0.29}, {'connected_gene': 'B3GALNT2', 'score': 0.21}]
chr1 GH01I234780 234780926 234781003 0.68 [{'connected_gene': 'ARID4B', 'score': 34.53}, {'connected_gene': 'RPS21P1', 'score': 14.35}, {'connected_gene': 'GGPS1', 'score': 13.25}, {'connected_gene': 'LDHAP2', 'score': 11.2}, {'connected_gene': 'GNG4', 'score': 10.97}, {'connected_gene': 'IRF2BP2', 'score': 10.79}, {'connected_gene': 'TOMM20', 'score': 9.74}, {'connected_gene': 'PIR47455', 'score': 0.44}, {'connected_gene': 'RNY4P16', 'score': 0.22}]
chr1 GH01I234781 234781086 234781739 0.85 [{'connected_gene': 'ARID4B', 'score': 25.52}, {'connected_gene': 'RPS21P1', 'score': 23.1}, {'connected_gene': 'LDHAP2', 'score': 11.2}, {'connected_gene': 'LOC101927765', 'score': 11.09}, {'connected_gene': 'GNG4', 'score': 10.97}, {'connected_gene': 'IRF2BP2', 'score': 10.79}, {'connected_gene': 'TOMM20', 'score': 9.74}, {'connected_gene': 'PIR47455', 'score': 0.39}, {'connected_gene': 'RNY4P16', 'score': 0.22}]
chr1 GH01I235090 235090026 235091523 1.31 [{'connected_gene': 'IRF2BP2', 'score': 22.6}, {'connected_gene': 'TOMM20', 'score': 16.94}, {'connected_gene': 'RPS21P1', 'score': 14.38}, {'connected_gene': 'ARID4B', 'score': 12.64}, {'connected_gene': 'ENSG00000228830', 'score': 11.9}, {'connected_gene': 'SNORA14B', 'score': 11.55}, {'connected_gene': 'TARBP1', 'score': 11.31}, {'connected_gene': 'LDHAP2', 'score': 11.21}, {'connected_gene': 'ENSG00000212144', 'score': 10.85}, {'connected_gene': 'GGPS1', 'score': 5.4}, {'connected_gene': 'ENSG00000233018', 'score': 0.44}, {'connected_gene': 'LINC01348', 'score': 0.37}]
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 GH01I235295 235295601 235298388 1.66 [{'connected_gene': 'RPL23AP23', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 31.55}, {'connected_gene': 'RPS21P1', 'score': 15.02}, {'connected_gene': 'GGPS1', 'score': 15.01}, {'connected_gene': 'TOMM20', 'score': 4.48}, {'connected_gene': 'RBM34', 'score': 3.23}, {'connected_gene': 'GC01M235309', 'score': 0.39}]
chr1 GH01I234486 234486922 234487800 1.27 [{'connected_gene': 'ENSG00000212144', 'score': 10.63}, {'connected_gene': 'SNORA14B', 'score': 10.04}, {'connected_gene': 'TOMM20', 'score': 10.04}, {'connected_gene': 'TARBP1', 'score': 0.44}, {'connected_gene': 'GC01P234531', 'score': 0.26}]
chr1 GH01I235104 235103086 235103195 0.31 [{'connected_gene': 'ENSG00000273416', 'score': 550.77}, {'connected_gene': 'SNORA14B', 'score': 12.24}, {'connected_gene': 'TOMM20', 'score': 12.22}, {'connected_gene': 'ENSG00000233018', 'score': 0.44}]
chr1 GH01I235103 235103806 235105906 1.77 [{'connected_gene': 'ENSG00000273416', 'score': 550.77}, {'connected_gene': 'SNORA14B', 'score': 12.24}, {'connected_gene': 'TOMM20', 'score': 12.24}, {'connected_gene': 'GC01P235107', 'score': 0.77}]
chr1 GH01I234968 234968350 234989683 2.19 [{'connected_gene': 'ENSG00000258082', 'score': 550.77}, {'connected_gene': 'ARID4B', 'score': 138.49}, {'connected_gene': 'RPS21P1', 'score': 66.27}, {'connected_gene': 'GGPS1', 'score': 59.11}, {'connected_gene': 'IRF2BP2', 'score': 55.22}, {'connected_gene': 'TBCE', 'score': 48.93}, {'connected_gene': 'LDHAP2', 'score': 19.49}, {'connected_gene': 'LOC101927851', 'score': 17.55}, {'connected_gene': 'TARBP1', 'score': 13.97}, {'connected_gene': 'ENSG00000228830', 'score': 12.2}, {'connected_gene': 'LINC01354', 'score': 11.15}, {'connected_gene': 'GNG4', 'score': 10.98}, {'connected_gene': 'TOMM20', 'score': 9.8}, {'connected_gene': 'RBM34', 'score': 2.08}]
chr1 GH01I235092 235092893 235094315 1.08 [{'connected_gene': 'ENSG00000228830', 'score': 11.9}, {'connected_gene': 'IRF2BP2', 'score': 11.9}, {'connected_gene': 'SNORA14B', 'score': 11.57}, {'connected_gene': 'TOMM20', 'score': 11.55}, {'connected_gene': 'TARBP1', 'score': 11.31}, {'connected_gene': 'ENSG00000212144', 'score': 10.83}, {'connected_gene': 'ENSG00000233018', 'score': 0.77}, {'connected_gene': 'LINC01348', 'score': 0.37}]