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
ENST00000361445 [[11166591, 11167557], [11168237, 11168343], [11169346, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175525], [11177060, 11177143], [11181302, 11181425], [11182035, 11182183], [11184554, 11184690], [11186678, 11186853], [11187066, 11187201], [11187680, 11187863], [11188060, 11188183], [11188510, 11188609], [11188911, 11189008], [11189794, 11189895], [11190585, 11190834], [11193136, 11193254], [11194407, 11194523], [11199360, 11199492], [11199589, 11199715], [11204704, 11204812], [11205024, 11205102], [11206732, 11206848], [11210182, 11210283], [11217208, 11217348], [11227498, 11227574], [11259314, 11259460], [11259597, 11259760], [11264617, 11264760], [11269368, 11269515], [11270870, 11270963], [11272368, 11272531], [11272852, 11272965], [11273455, 11273623], [11276204, 11276291], [11288724, 11288975], [11290981, 11291111], [11291356, 11291491], [11292492, 11292585], [11293454, 11293544], [11294199, 11294322], [11297899, 11298105], [11298458, 11298674], [11300359, 11300604], [11301609, 11301738], [11303170, 11303357], [11307681, 11307790], [11307875, 11308151], [11313895, 11314030], [11316048, 11316249], [11316989, 11317222], [11318541, 11318650], [11319304, 11319480], [11322501, 11322564]] [[11167541, 11167557], [11168237, 11168343], [11169346, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175525], [11177060, 11177143], [11181302, 11181425], [11182035, 11182183], [11184554, 11184690], [11186678, 11186853], [11187066, 11187201], [11187680, 11187863], [11188060, 11188183], [11188510, 11188609], [11188911, 11189008], [11189794, 11189895], [11190585, 11190834], [11193136, 11193254], [11194407, 11194523], [11199360, 11199492], [11199589, 11199715], [11204704, 11204812], [11205024, 11205102], [11206732, 11206848], [11210182, 11210283], [11217208, 11217348], [11227498, 11227574], [11259314, 11259460], [11259597, 11259760], [11264617, 11264760], [11269368, 11269515], [11270870, 11270963], [11272368, 11272531], [11272852, 11272965], [11273455, 11273623], [11276204, 11276291], [11288724, 11288975], [11290981, 11291111], [11291356, 11291491], [11292492, 11292585], [11293454, 11293544], [11294199, 11294322], [11297899, 11298105], [11298458, 11298674], [11300359, 11300604], [11301609, 11301738], [11303170, 11303357], [11307681, 11307790], [11307875, 11308151], [11313895, 11314030], [11316048, 11316249], [11316989, 11317222], [11318541, 11318650], [11319304, 11319466]]
ENST00000376838 [[11166591, 11167557], [11168237, 11168343], [11169346, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175525], [11177060, 11177143], [11181302, 11181425], [11182035, 11182183], [11184554, 11184690], [11186678, 11186853], [11187066, 11187201], [11187680, 11187863], [11188060, 11188183], [11188510, 11188609], [11188911, 11189008], [11189794, 11189895], [11190585, 11191615]] [[11167541, 11167557], [11168237, 11168343], [11169346, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175525], [11177060, 11177143], [11181302, 11181425], [11182035, 11182183], [11184554, 11184690], [11186678, 11186853], [11187066, 11187201], [11187680, 11187863], [11188060, 11188183], [11188510, 11188609], [11188911, 11189008], [11189794, 11189895], [11190585, 11190813]]
ENST00000473471 [[11167341, 11167557], [11168237, 11168343], [11169346, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174686]] None
ENST00000490931 [[11167363, 11167557], [11168237, 11168343], [11169346, 11169427], [11169705, 11169786], [11171570, 11171810], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175584]] None
ENST00000455339 [[11169359, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175720]] [[11169359, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175509]]
ENST00000495435 [[11191650, 11193254], [11194407, 11194523], [11199360, 11199492], [11199589, 11199715], [11204704, 11205082]] None
ENST00000476768 [[11199010, 11199492], [11199589, 11199717]] None
NM_004958 [[11166587, 11167557], [11168237, 11168343], [11169346, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175525], [11177060, 11177143], [11181302, 11181425], [11182035, 11182183], [11184554, 11184690], [11186678, 11186853], [11187066, 11187201], [11187680, 11187863], [11188060, 11188183], [11188510, 11188609], [11188911, 11189008], [11189794, 11189895], [11190585, 11190834], [11193136, 11193254], [11194407, 11194523], [11199360, 11199492], [11199589, 11199715], [11204704, 11204812], [11205024, 11205102], [11206732, 11206848], [11210182, 11210283], [11217208, 11217348], [11227498, 11227574], [11259314, 11259460], [11259597, 11259760], [11264617, 11264760], [11269368, 11269515], [11270870, 11270963], [11272368, 11272531], [11272852, 11272965], [11273455, 11273623], [11276204, 11276291], [11288724, 11288975], [11290981, 11291111], [11291356, 11291491], [11292492, 11292585], [11293454, 11293544], [11294199, 11294322], [11297899, 11298105], [11298458, 11298674], [11300359, 11300604], [11301609, 11301738], [11303170, 11303357], [11307681, 11307790], [11307875, 11308151], [11313895, 11314030], [11316048, 11316249], [11316989, 11317222], [11318541, 11318650], [11319304, 11319480], [11322501, 11322608]] [[11167541, 11167557], [11168237, 11168343], [11169346, 11169427], [11169705, 11169786], [11172908, 11172974], [11174374, 11174510], [11174869, 11174944], [11175452, 11175525], [11177060, 11177143], [11181302, 11181425], [11182035, 11182183], [11184554, 11184690], [11186678, 11186853], [11187066, 11187201], [11187680, 11187863], [11188060, 11188183], [11188510, 11188609], [11188911, 11189008], [11189794, 11189895], [11190585, 11190834], [11193136, 11193254], [11194407, 11194523], [11199360, 11199492], [11199589, 11199715], [11204704, 11204812], [11205024, 11205102], [11206732, 11206848], [11210182, 11210283], [11217208, 11217348], [11227498, 11227574], [11259314, 11259460], [11259597, 11259760], [11264617, 11264760], [11269368, 11269515], [11270870, 11270963], [11272368, 11272531], [11272852, 11272965], [11273455, 11273623], [11276204, 11276291], [11288724, 11288975], [11290981, 11291111], [11291356, 11291491], [11292492, 11292585], [11293454, 11293544], [11294199, 11294322], [11297899, 11298105], [11298458, 11298674], [11300359, 11300604], [11301609, 11301738], [11303170, 11303357], [11307681, 11307790], [11307875, 11308151], [11313895, 11314030], [11316048, 11316249], [11316989, 11317222], [11318541, 11318650], [11319304, 11319466]]
Promoter
Chrom Start End Description
chr1 11322551 11322583 CAGE_peak_2_at_MTOR_5end
chr1 11322586 11322629 CAGE_peak_1_at_MTOR_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I012014 12014069 12015465 1.26 [{'connected_gene': 'MFN2', 'score': 41.45}, {'connected_gene': 'EXOSC10', 'score': 24.53}, {'connected_gene': 'MTOR', 'score': 19.76}, {'connected_gene': 'VPS13D', 'score': 12.53}, {'connected_gene': 'ENSG00000226849', 'score': 11.49}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'MIIP', 'score': 7.06}, {'connected_gene': 'KIAA2013', 'score': 5.85}, {'connected_gene': 'ENSG00000270914', 'score': 0.77}]
chr1 GH01I011058 11058588 11062420 2 [{'connected_gene': 'SRM', 'score': 550.77}, {'connected_gene': 'GC01P011060', 'score': 550.77}, {'connected_gene': 'UBIAD1', 'score': 11.76}, {'connected_gene': 'MTOR', 'score': 10.47}, {'connected_gene': 'ENSG00000226849', 'score': 8.05}, {'connected_gene': 'EXOSC10', 'score': 5.69}]
chr1 GH01I011705 11705966 11707082 0.74 [{'connected_gene': 'AGTRAP', 'score': 16.82}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.28}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'EXOSC10', 'score': 9.67}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'MAD2L2', 'score': 0.39}, {'connected_gene': 'GC01P011722', 'score': 0.37}, {'connected_gene': 'DRAXIN', 'score': 0.37}]
chr1 GH01I011707 11707311 11707962 1.06 [{'connected_gene': 'EXOSC10', 'score': 18.13}, {'connected_gene': 'TARDBP', 'score': 15.01}, {'connected_gene': 'AGTRAP', 'score': 12.21}, {'connected_gene': 'ENSG00000226849', 'score': 11.96}, {'connected_gene': 'MTOR', 'score': 11.49}, {'connected_gene': 'FBXO44', 'score': 11.4}, {'connected_gene': 'FBXO2', 'score': 11.4}, {'connected_gene': 'C1orf167', 'score': 11.29}, {'connected_gene': 'LOC102724659', 'score': 11.26}, {'connected_gene': 'MTHFR', 'score': 11.11}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'C1orf127', 'score': 8.59}, {'connected_gene': 'DRAXIN', 'score': 5.08}, {'connected_gene': 'GC01P011722', 'score': 0.39}, {'connected_gene': 'MAD2L2', 'score': 0.37}]
chr1 GH01I011245 11245177 11247206 0.38 [{'connected_gene': 'MTOR', 'score': 15.01}, {'connected_gene': 'SRM', 'score': 10.93}, {'connected_gene': 'MTOR-AS1', 'score': 10.85}, {'connected_gene': 'RNU6-537P', 'score': 10.12}, {'connected_gene': 'C1orf127', 'score': 9.64}, {'connected_gene': 'ENSG00000226849', 'score': 9.07}, {'connected_gene': 'RPL39P6', 'score': 0.39}, {'connected_gene': 'GC01M011183', 'score': 0.26}]
chr1 GH01I011261 11261400 11263705 2.06 [{'connected_gene': 'MTOR', 'score': 566.05}, {'connected_gene': 'UBIAD1', 'score': 27.81}, {'connected_gene': 'CASZ1', 'score': 13.34}, {'connected_gene': 'TARDBP', 'score': 10.19}, {'connected_gene': 'ENSG00000226849', 'score': 7.21}, {'connected_gene': 'GC01M011183', 'score': 0.31}, {'connected_gene': 'RPL39P6', 'score': 0.31}]
chr1 GH01I011316 11316846 11317122 0.27 [{'connected_gene': 'MTOR', 'score': 11.47}, {'connected_gene': 'LOC105376737', 'score': 0.77}, {'connected_gene': 'GC01P011306', 'score': 0.39}]
chr1 GH01I011332 11332790 11333114 0.23 [{'connected_gene': 'MTOR', 'score': 10.16}, {'connected_gene': 'MTOR-AS1', 'score': 10.05}, {'connected_gene': 'DISP3', 'score': 2.71}, {'connected_gene': 'DRAXIN', 'score': 1.45}, {'connected_gene': 'MAD2L2', 'score': 1.19}, {'connected_gene': 'LOC105376737', 'score': 0.39}, {'connected_gene': 'LOC105376739', 'score': 0.31}]
chr1 GH01I011236 11236317 11238096 0.38 [{'connected_gene': 'MTOR', 'score': 14.14}, {'connected_gene': 'RPL39P6', 'score': 0.77}, {'connected_gene': 'GC01M011183', 'score': 0.23}]
chr1 GH01I011241 11241824 11241953 0.64 [{'connected_gene': 'MTOR', 'score': 12.85}, {'connected_gene': 'RPL39P6', 'score': 0.44}, {'connected_gene': 'GC01M011183', 'score': 0.25}]
chr1 GH01I010662 10662487 10690510 2.45 [{'connected_gene': 'TARDBP', 'score': 37.65}, {'connected_gene': 'ENSG00000226849', 'score': 28.33}, {'connected_gene': 'EXOSC10', 'score': 24.53}, {'connected_gene': 'MTOR', 'score': 11.14}, {'connected_gene': 'ENSG00000271895', 'score': 10.46}, {'connected_gene': 'C1orf127', 'score': 10.42}, {'connected_gene': 'DFFA', 'score': 10.08}, {'connected_gene': 'PGD', 'score': 4.47}, {'connected_gene': 'RBP7', 'score': 4.42}, {'connected_gene': 'CASZ1', 'score': 1.6}, {'connected_gene': 'GC01P010673', 'score': 0.77}]
chr1 GH01I010552 10552302 10554142 0.7 [{'connected_gene': 'TARDBP', 'score': 17.37}, {'connected_gene': 'PGD', 'score': 15.0}, {'connected_gene': 'EXOSC10', 'score': 14.52}, {'connected_gene': 'ENSG00000226849', 'score': 11.72}, {'connected_gene': 'MTOR', 'score': 11.14}, {'connected_gene': 'ENSG00000271895', 'score': 10.46}, {'connected_gene': 'CENPS', 'score': 5.34}, {'connected_gene': 'PIR58493', 'score': 0.39}, {'connected_gene': 'GC01P010598', 'score': 0.25}, {'connected_gene': 'PEX14', 'score': 0.18}]
chr1 GH01I011062 11062564 11063713 0.79 [{'connected_gene': 'TARDBP', 'score': 11.59}, {'connected_gene': 'MTOR-AS1', 'score': 10.68}, {'connected_gene': 'MTOR', 'score': 10.58}, {'connected_gene': 'GC01P011060', 'score': 0.77}, {'connected_gene': 'ENSG00000226849', 'score': 0.44}]
chr1 GH01I011064 11064004 11064133 0.46 [{'connected_gene': 'TARDBP', 'score': 11.59}, {'connected_gene': 'MTOR-AS1', 'score': 10.69}, {'connected_gene': 'MTOR', 'score': 10.58}, {'connected_gene': 'GC01P011060', 'score': 0.77}, {'connected_gene': 'ENSG00000226849', 'score': 0.77}]
chr1 GH01I011175 11175715 11179292 1.35 [{'connected_gene': 'CLCN6', 'score': 36.78}, {'connected_gene': 'ENSG00000226849', 'score': 21.64}, {'connected_gene': 'ANGPTL7', 'score': 14.03}, {'connected_gene': 'ENSG00000271895', 'score': 12.31}, {'connected_gene': 'MTOR', 'score': 11.76}, {'connected_gene': 'TARDBP', 'score': 10.41}, {'connected_gene': 'FBXO44', 'score': 10.3}, {'connected_gene': 'EXOSC10', 'score': 10.19}, {'connected_gene': 'RNU6-537P', 'score': 0.31}]
chr1 GH01I011150 11150971 11153283 0.52 [{'connected_gene': 'RNU6-537P', 'score': 550.77}, {'connected_gene': 'ANGPTL7', 'score': 14.02}, {'connected_gene': 'C1orf127', 'score': 9.85}, {'connected_gene': 'ENSG00000226849', 'score': 9.15}, {'connected_gene': 'MTOR-AS1', 'score': 0.44}, {'connected_gene': 'MTOR', 'score': 0.14}]
chr1 GH01I011151 11150484 11150653 0.2 [{'connected_gene': 'RNU6-537P', 'score': 550.77}, {'connected_gene': 'MTOR-AS1', 'score': 0.44}, {'connected_gene': 'MTOR', 'score': 0.14}]
chr1 GH01I011267 11267063 11268453 0.89 [{'connected_gene': 'RNU6-291P', 'score': 11.43}, {'connected_gene': 'MTOR', 'score': 5.63}, {'connected_gene': 'ENSG00000226849', 'score': 5.49}, {'connected_gene': 'GC01M011270', 'score': 0.77}, {'connected_gene': 'GC01M011183', 'score': 0.34}]
chr1 GH01I011156 11156758 11159530 0.69 [{'connected_gene': 'ANGPTL7', 'score': 10.99}, {'connected_gene': 'MTOR', 'score': 10.95}, {'connected_gene': 'C1orf127', 'score': 9.85}, {'connected_gene': 'ENSG00000226849', 'score': 9.14}, {'connected_gene': 'EXOSC10', 'score': 5.23}, {'connected_gene': 'RNU6-537P', 'score': 0.44}]
chr1 GH01I011189 11189306 11189365 0.81 [{'connected_gene': 'ANGPTL7', 'score': 550.77}, {'connected_gene': 'GC01P011226', 'score': 0.28}, {'connected_gene': 'MTOR', 'score': 0.19}, {'connected_gene': 'GC01M011183', 'score': 0.15}]
chr1 GH01I011180 11180369 11180652 0.63 [{'connected_gene': 'ANGPTL7', 'score': 0.44}, {'connected_gene': 'RNU6-537P', 'score': 0.31}, {'connected_gene': 'MTOR', 'score': 0.18}]
chr1 GH01I011174 11174384 11174533 0.51 [{'connected_gene': 'ANGPTL7', 'score': 0.39}, {'connected_gene': 'RNU6-537P', 'score': 0.34}, {'connected_gene': 'MTOR', 'score': 0.17}]
chr1 GH01I010758 10758605 10763102 1 [{'connected_gene': 'MTOR-AS1', 'score': 8.77}, {'connected_gene': 'MTOR', 'score': 8.76}, {'connected_gene': 'CASZ1', 'score': 0.28}, {'connected_gene': 'GC01P010673', 'score': 0.17}]
chr1 GH01I010764 10764208 10764799 0.2 [{'connected_gene': 'MTOR-AS1', 'score': 8.77}, {'connected_gene': 'MTOR', 'score': 8.77}, {'connected_gene': 'CASZ1', 'score': 0.29}, {'connected_gene': 'GC01P010673', 'score': 0.16}]
chr1 GH01I010765 10765022 10766674 0.76 [{'connected_gene': 'MTOR-AS1', 'score': 8.77}, {'connected_gene': 'MTOR', 'score': 8.77}, {'connected_gene': 'CASZ1', 'score': 0.29}, {'connected_gene': 'GC01P010673', 'score': 0.16}]
chr1 GH01I010763 10763650 10763946 0.31 [{'connected_gene': 'MTOR-AS1', 'score': 8.77}, {'connected_gene': 'MTOR', 'score': 8.77}, {'connected_gene': 'CASZ1', 'score': 0.29}, {'connected_gene': 'GC01P010673', 'score': 0.16}]
chr1 GH01I011144 11144024 11144173 0.2 [{'connected_gene': 'MTOR-AS1', 'score': 550.77}, {'connected_gene': 'RNU6-537P', 'score': 0.44}, {'connected_gene': 'MTOR', 'score': 0.13}]
chr1 GH01I011943 11943511 11945453 1.13 [{'connected_gene': 'ENSG00000226849', 'score': 47.69}, {'connected_gene': 'EXOSC10', 'score': 45.33}, {'connected_gene': 'TARDBP', 'score': 40.35}, {'connected_gene': 'MTHFR', 'score': 19.99}, {'connected_gene': 'MFN2', 'score': 15.66}, {'connected_gene': 'VPS13D', 'score': 10.73}, {'connected_gene': 'MTOR', 'score': 10.64}, {'connected_gene': 'UBIAD1', 'score': 9.84}, {'connected_gene': 'ENSG00000271895', 'score': 9.75}, {'connected_gene': 'PLOD1', 'score': 7.64}]
chr1 GH01I011134 11134050 11135279 0.77 [{'connected_gene': 'ENSG00000226849', 'score': 7.87}, {'connected_gene': 'EXOSC10', 'score': 5.3}, {'connected_gene': 'MTOR-AS1', 'score': 0.44}, {'connected_gene': 'MTOR', 'score': 0.13}]
chr1 GH01I010376 10376720 10381557 1.34 [{'connected_gene': 'PIR39212', 'score': 550.77}, {'connected_gene': 'PIR58004', 'score': 550.77}, {'connected_gene': 'PIR46417', 'score': 550.77}, {'connected_gene': 'PIR47129', 'score': 550.77}, {'connected_gene': 'PGD', 'score': 68.17}, {'connected_gene': 'EXOSC10', 'score': 17.81}, {'connected_gene': 'MTOR', 'score': 11.47}, {'connected_gene': 'TARDBP', 'score': 10.38}, {'connected_gene': 'ENSG00000271895', 'score': 10.21}, {'connected_gene': 'KIF1B', 'score': 7.88}]

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