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
ENST00000452135 [[179660142, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719099]] [[179663383, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
ENST00000393360 [[179660593, 179663531], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719056]] [[179663514, 179663531], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
ENST00000455781 [[179660593, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674854, 179674926], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719071]] [[179663383, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674854, 179674926], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
ENST00000343111 [[179660593, 179663531], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674854, 179674926], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719099]] [[179663514, 179663531], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674854, 179674926], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
ENST00000347470 [[179663186, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719092]] [[179663383, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
ENST00000397072 [[179665308, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179706795, 179707036], [179707439, 179707581]] [[179696397, 179696409], [179706795, 179707036], [179707439, 179707561]]
ENST00000393362 [[179669577, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179706795, 179707036], [179707439, 179707608], [179718847, 179719037]] [[179696397, 179696409], [179706795, 179707036], [179707439, 179707561]]
ENST00000425491 [[179673027, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179718967]] [[179674397, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
ENST00000539014 [[179673544, 179674510], [179674662, 179674728], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707581]] [[179674699, 179674728], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
ENST00000523583 [[179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179713974, 179714067], [179718847, 179719053]] [[179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
ENST00000520212 [[179663525, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669900]] None
ENST00000524170 [[179669727, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179689956, 179690089]] None
ENST00000523135 [[179680506, 179680677], [179688683, 179688822], [179691780, 179691842]] None
NM_139069 [[179660593, 179663531], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674854, 179674926], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719071]] [[179663514, 179663531], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674854, 179674926], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
NM_139070 [[179660593, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674854, 179674926], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719071]] [[179663383, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674854, 179674926], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
NM_139068 [[179660593, 179663531], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719071]] [[179663514, 179663531], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
NM_002752 [[179660593, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719071]] [[179663383, 179663526], [179665331, 179665403], [179666923, 179666987], [179668030, 179668155], [179669572, 179669755], [179674438, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
NM_001308244 [[179673019, 179674510], [179674662, 179674728], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608]] [[179674699, 179674728], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
NM_001135044 [[179673027, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707608], [179718847, 179719071]] [[179674397, 179674510], [179675972, 179676138], [179688683, 179688822], [179691780, 179691839], [179696279, 179696409], [179707439, 179707561]]
Promoter
Chrom Start End Description
chr5 179718929 179718951 CAGE_peak_3_at_MAPK9_5end
chr5 179719001 179719047 CAGE_peak_2_at_MAPK9_5end
chr5 179719048 179719098 CAGE_peak_1_at_MAPK9_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I181202 181202890 181208530 2.31 [{'connected_gene': 'TRIM7', 'score': 579.59}, {'connected_gene': 'ENSG00000248514', 'score': 575.67}, {'connected_gene': 'GC05P181245', 'score': 550.77}, {'connected_gene': 'TRA-TGC3-1', 'score': 550.77}, {'connected_gene': 'PIR42038', 'score': 550.77}, {'connected_gene': 'TRIM52', 'score': 36.1}, {'connected_gene': 'ENSG00000233937', 'score': 25.44}, {'connected_gene': 'ZFP62', 'score': 25.09}, {'connected_gene': 'CNOT6', 'score': 21.77}, {'connected_gene': 'RACK1', 'score': 20.81}, {'connected_gene': 'GFPT2', 'score': 11.38}, {'connected_gene': 'RASGEF1C', 'score': 11.26}, {'connected_gene': 'ENSG00000248367', 'score': 10.59}, {'connected_gene': 'MGAT1', 'score': 9.82}, {'connected_gene': 'TRIM52-AS1', 'score': 5.69}, {'connected_gene': 'MAPK9', 'score': 4.58}, {'connected_gene': 'TRK-CTT2-2', 'score': 0.77}, {'connected_gene': 'PIR62062', 'score': 0.77}, {'connected_gene': 'PIR58457', 'score': 0.77}, {'connected_gene': 'ENSG00000250900', 'score': 0.39}]
chr5 GH05I180493 180493273 180497459 2.08 [{'connected_gene': 'CNOT6', 'score': 561.51}, {'connected_gene': 'HNRNPH1', 'score': 38.3}, {'connected_gene': 'MAML1', 'score': 34.94}, {'connected_gene': 'MRNIP', 'score': 33.77}, {'connected_gene': 'ENSG00000233937', 'score': 28.43}, {'connected_gene': 'TRIM52', 'score': 25.22}, {'connected_gene': 'ZFP62', 'score': 17.33}, {'connected_gene': 'RUFY1', 'score': 16.78}, {'connected_gene': 'RACK1', 'score': 15.53}, {'connected_gene': 'LOC100996419', 'score': 12.85}, {'connected_gene': 'ENSG00000248367', 'score': 12.21}, {'connected_gene': 'MAPK9', 'score': 11.67}, {'connected_gene': 'LOC101928445', 'score': 10.05}, {'connected_gene': 'SNORD96A', 'score': 9.97}, {'connected_gene': 'SCGB3A1', 'score': 7.07}, {'connected_gene': 'BTNL3', 'score': 5.92}, {'connected_gene': 'LOC102725231', 'score': 0.31}, {'connected_gene': 'LOC100329129', 'score': 0.28}]
chr5 GH05I180324 180324197 180325945 0.59 [{'connected_gene': 'MAPK9', 'score': 17.3}, {'connected_gene': 'GFPT2', 'score': 12.02}, {'connected_gene': 'ENSG00000248367', 'score': 11.83}, {'connected_gene': 'PIR49031', 'score': 0.37}]
chr5 GH05I180337 180337475 180339239 0.31 [{'connected_gene': 'MAPK9', 'score': 11.05}, {'connected_gene': 'ENSG00000248367', 'score': 11.05}, {'connected_gene': 'GFPT2', 'score': 0.37}, {'connected_gene': 'PIR49031', 'score': 0.29}]
chr5 GH05I180340 180340489 180341400 0.2 [{'connected_gene': 'MAPK9', 'score': 11.05}, {'connected_gene': 'ENSG00000248367', 'score': 11.05}, {'connected_gene': 'GFPT2', 'score': 0.39}, {'connected_gene': 'PIR49031', 'score': 0.29}]
chr5 GH05I180323 180323355 180324164 0.57 [{'connected_gene': 'MAPK9', 'score': 11.83}, {'connected_gene': 'ENSG00000248367', 'score': 11.83}, {'connected_gene': 'PIR49031', 'score': 0.37}, {'connected_gene': 'GFPT2', 'score': 0.31}]
chr5 GH05I180329 180328741 180328970 0.97 [{'connected_gene': 'MAPK9', 'score': 11.98}, {'connected_gene': 'ENSG00000248367', 'score': 11.98}, {'connected_gene': 'GFPT2', 'score': 0.34}, {'connected_gene': 'PIR49031', 'score': 0.34}]
chr5 GH05I180313 180313281 180314607 1.01 [{'connected_gene': 'MAPK9', 'score': 11.69}, {'connected_gene': 'PIR49031', 'score': 0.44}, {'connected_gene': 'GFPT2', 'score': 0.28}]
chr5 GH05I180335 180335183 180336251 0.38 [{'connected_gene': 'MAPK9', 'score': 11.97}, {'connected_gene': 'ENSG00000248367', 'score': 11.97}, {'connected_gene': 'GFPT2', 'score': 0.37}, {'connected_gene': 'PIR49031', 'score': 0.31}]
chr5 GH05I180342 180342290 180345861 1.11 [{'connected_gene': 'MAPK9', 'score': 11.03}, {'connected_gene': 'ENSG00000248367', 'score': 11.03}, {'connected_gene': 'GFPT2', 'score': 5.38}, {'connected_gene': 'PIR49031', 'score': 0.28}]
chr5 GH05I180328 180328996 180334782 1.26 [{'connected_gene': 'MAPK9', 'score': 17.48}, {'connected_gene': 'ENSG00000248367', 'score': 11.98}, {'connected_gene': 'GFPT2', 'score': 0.34}, {'connected_gene': 'PIR49031', 'score': 0.34}]
chr5 GH05I180339 180339432 180340283 0.2 [{'connected_gene': 'MAPK9', 'score': 11.05}, {'connected_gene': 'ENSG00000248367', 'score': 11.05}, {'connected_gene': 'GFPT2', 'score': 0.39}, {'connected_gene': 'PIR49031', 'score': 0.29}]
chr5 GH05I180232 180232702 180234728 0.54 [{'connected_gene': 'MAPK9', 'score': 6.12}, {'connected_gene': 'RPS8P7', 'score': 0.44}, {'connected_gene': 'LOC100419721', 'score': 0.34}]
chr5 GH05I180290 180290966 180294270 2.03 [{'connected_gene': 'MAPK9', 'score': 561.43}, {'connected_gene': 'ENSG00000248367', 'score': 557.87}, {'connected_gene': 'GC05P180311', 'score': 550.77}, {'connected_gene': 'HNRNPH1', 'score': 29.59}, {'connected_gene': 'MAML1', 'score': 28.57}, {'connected_gene': 'ENSG00000233937', 'score': 26.02}, {'connected_gene': 'RUFY1', 'score': 21.85}, {'connected_gene': 'ZFP62', 'score': 11.99}, {'connected_gene': 'MRNIP', 'score': 11.44}, {'connected_gene': 'RACK1', 'score': 11.16}, {'connected_gene': 'CNOT6', 'score': 10.37}, {'connected_gene': 'SNORD96A', 'score': 10.09}]
chr5 GH05I180370 180370696 180371961 0.46 [{'connected_gene': 'MAPK9', 'score': 11.04}, {'connected_gene': 'ENSG00000248367', 'score': 11.04}, {'connected_gene': 'RACK1', 'score': 4.98}, {'connected_gene': 'GFPT2', 'score': 0.37}, {'connected_gene': 'PIR42519', 'score': 0.22}]
chr5 GH05I180471 180471101 180471250 0.65 [{'connected_gene': 'MAPK9', 'score': 11.04}, {'connected_gene': 'ENSG00000248367', 'score': 11.04}, {'connected_gene': 'LOC102725231', 'score': 0.77}, {'connected_gene': 'CNOT6', 'score': 0.34}]
chr5 GH05I180209 180208074 180208183 0.44 [{'connected_gene': 'RASGEF1C', 'score': 561.44}, {'connected_gene': 'HNRNPH1', 'score': 17.69}, {'connected_gene': 'MAML1', 'score': 16.17}, {'connected_gene': 'RUFY1', 'score': 15.76}, {'connected_gene': 'MAPK9', 'score': 11.93}, {'connected_gene': 'PRDX2P3', 'score': 11.06}, {'connected_gene': 'ENSG00000248367', 'score': 10.45}, {'connected_gene': 'MGAT1', 'score': 10.12}, {'connected_gene': 'MRNIP', 'score': 1.62}, {'connected_gene': 'LOC646058', 'score': 0.13}]
chr5 GH05I180289 180289621 180289750 0.62 [{'connected_gene': 'RN7SKP150', 'score': 9.68}, {'connected_gene': 'TBC1D9B', 'score': 9.17}, {'connected_gene': 'MRNIP', 'score': 9.17}, {'connected_gene': 'MAPK9', 'score': 0.77}, {'connected_gene': 'GC05M180286', 'score': 0.77}]
chr5 GH05I180294 180294401 180294800 0.4 [{'connected_gene': 'ENSG00000248367', 'score': 558.47}, {'connected_gene': 'MAPK9', 'score': 9.84}, {'connected_gene': 'GC05P180311', 'score': 0.77}, {'connected_gene': 'PIR49031', 'score': 0.39}]
chr5 GH05I181240 181240715 181249682 2.32 [{'connected_gene': 'ENSG00000233937', 'score': 625.6}, {'connected_gene': 'RACK1', 'score': 614.07}, {'connected_gene': 'GC05M181246', 'score': 550.77}, {'connected_gene': 'GC05M181245', 'score': 550.77}, {'connected_gene': 'CTC-338M12.4', 'score': 550.77}, {'connected_gene': 'SNORD95', 'score': 550.77}, {'connected_gene': 'GC05M181244', 'score': 550.77}, {'connected_gene': 'GC05M181247', 'score': 550.77}, {'connected_gene': 'TRIM52-AS1', 'score': 63.54}, {'connected_gene': 'TRIM52', 'score': 23.56}, {'connected_gene': 'MGAT1', 'score': 19.88}, {'connected_gene': 'ENSG00000248367', 'score': 12.15}, {'connected_gene': 'MAPK9', 'score': 11.61}, {'connected_gene': 'GC05M181242', 'score': 0.77}, {'connected_gene': 'SNORD96A', 'score': 0.77}]
chr5 GH05I181221 181221077 181225426 2.36 [{'connected_gene': 'PIR33457', 'score': 550.77}, {'connected_gene': 'MIR4638', 'score': 550.77}, {'connected_gene': 'TRK-CTT2-3', 'score': 550.77}, {'connected_gene': 'PIR62653', 'score': 550.77}, {'connected_gene': 'TRV-CAC1-5', 'score': 550.77}, {'connected_gene': 'TRIM41', 'score': 550.77}, {'connected_gene': 'ENSG00000233937', 'score': 74.78}, {'connected_gene': 'RACK1', 'score': 46.34}, {'connected_gene': 'TRIM52', 'score': 41.75}, {'connected_gene': 'TRIM52-AS1', 'score': 36.83}, {'connected_gene': 'CNOT6', 'score': 22.09}, {'connected_gene': 'ENSG00000248367', 'score': 20.99}, {'connected_gene': 'GFPT2', 'score': 20.88}, {'connected_gene': 'MGAT1', 'score': 18.24}, {'connected_gene': 'ZFP62', 'score': 15.18}, {'connected_gene': 'MAPK9', 'score': 11.61}, {'connected_gene': 'SNORD96A', 'score': 10.43}, {'connected_gene': 'ENSG00000248103', 'score': 10.31}, {'connected_gene': 'TRIM7', 'score': 7.39}, {'connected_gene': 'ENSG00000247049', 'score': 0.44}]

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