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
ENST00000370360 [[92711958, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763586], [92764481, 92764533]] [[92712086, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763556]]
ENST00000534881 [[92711959, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763586], [92764481, 92764544]] [[92712086, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763556]]
ENST00000495106 [[92712046, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92731975, 92732049], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763586], [92764481, 92764544]] [[92729249, 92729289], [92731975, 92732049], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763556]]
ENST00000471465 [[92712048, 92712203], [92712618, 92712701], [92713434, 92713965]] None
ENST00000495852 [[92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752049]] [[92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752049]]
ENST00000463560 [[92728421, 92728483], [92729179, 92729289], [92732096, 92732150], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149]] [[92728421, 92728483], [92729179, 92729289], [92732096, 92732150], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149]]
ENST00000487911 [[92763077, 92763586], [92764481, 92764544]] None
NM_053274 [[92711954, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763586], [92764481, 92764566]] [[92712086, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763556]]
NR_135089 [[92711954, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92731975, 92732049], [92732256, 92732298], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763586], [92764481, 92764566]] None
NM_001319683 [[92711954, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763586], [92764481, 92764566]] [[92712086, 92712203], [92712618, 92712701], [92713434, 92713546], [92728419, 92728483], [92729179, 92729289], [92730110, 92730195], [92731975, 92732049], [92733469, 92733559], [92733661, 92733692], [92735279, 92735333], [92737021, 92737209], [92752046, 92752149], [92754470, 92754708], [92755754, 92755863], [92756974, 92757094], [92762960, 92763086], [92763517, 92763556]]
Promoter
Chrom Start End Description
chr1 92764523 92764551 CAGE_peak_1_at_GLMN_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr1 GH01I092297 92297801 92300193 2.02 [{'connected_gene': 'RPAP2', 'score': 550.77}, {'connected_gene': 'GLMN', 'score': 550.11}, {'connected_gene': 'EVI5', 'score': 9.78}, {'connected_gene': 'GC01P092398', 'score': 0.15}]
chr1 GH01I091843 91843388 91847190 1.5 [{'connected_gene': 'RPAP2', 'score': 16.37}, {'connected_gene': 'GLMN', 'score': 13.87}, {'connected_gene': 'HFM1', 'score': 12.83}, {'connected_gene': 'GC01P091842', 'score': 0.77}, {'connected_gene': 'GC01M091855', 'score': 0.31}, {'connected_gene': 'TGFBR3', 'score': 0.21}]
chr1 GH01I092310 92310244 92310373 0.59 [{'connected_gene': 'RPAP2', 'score': 0.39}, {'connected_gene': 'GC01P092398', 'score': 0.17}, {'connected_gene': 'GLMN', 'score': 0.12}]
chr1 GH01I091802 91802642 91808430 1.91 [{'connected_gene': 'EVI5', 'score': 3.83}, {'connected_gene': 'RPAP2', 'score': 3.81}, {'connected_gene': 'TGFBR3', 'score': 2.25}, {'connected_gene': 'GLMN', 'score': 1.52}, {'connected_gene': 'GC01M091786', 'score': 0.44}, {'connected_gene': 'GC01M091783', 'score': 0.34}]
chr1 GH01I092328 92328772 92330445 0.2 [{'connected_gene': 'EVI5', 'score': 11.48}, {'connected_gene': 'RPAP2', 'score': 0.29}, {'connected_gene': 'GC01P092398', 'score': 0.2}, {'connected_gene': 'GLMN', 'score': 0.14}]
chr1 GH01I092365 92365481 92367069 0.56 [{'connected_gene': 'EVI5', 'score': 11.48}, {'connected_gene': 'FAM69A', 'score': 4.89}, {'connected_gene': 'GC01P092398', 'score': 0.29}, {'connected_gene': 'RPAP2', 'score': 0.2}, {'connected_gene': 'GLMN', 'score': 0.18}]
chr1 GH01I092457 92457748 92458593 0.2 [{'connected_gene': 'EVI5', 'score': 12.31}, {'connected_gene': 'GC01P092463', 'score': 0.44}, {'connected_gene': 'GLMN', 'score': 0.37}]
chr1 GH01I092459 92458894 92460960 1.1 [{'connected_gene': 'EVI5', 'score': 11.62}, {'connected_gene': 'GC01P092463', 'score': 0.77}, {'connected_gene': 'GLMN', 'score': 0.37}]
chr1 GH01I092410 92410172 92411378 0.49 [{'connected_gene': 'EVI5', 'score': 9.79}, {'connected_gene': 'RN7SL824P', 'score': 0.44}, {'connected_gene': 'GLMN', 'score': 0.29}]
chr1 GH01I091882 91882840 91887238 2.27 [{'connected_gene': 'TGFBR3', 'score': 560.88}, {'connected_gene': 'HFM1', 'score': 36.23}, {'connected_gene': 'RPAP2', 'score': 22.53}, {'connected_gene': 'SNORA66', 'score': 18.46}, {'connected_gene': 'SNORD21', 'score': 18.06}, {'connected_gene': 'RPL5', 'score': 16.44}, {'connected_gene': 'GLMN', 'score': 15.32}, {'connected_gene': 'ENSG00000189195', 'score': 13.24}, {'connected_gene': 'ZNF644', 'score': 10.57}, {'connected_gene': 'GC01M091855', 'score': 0.39}]
chr1 GH01I091912 91912578 91914884 0.46 [{'connected_gene': 'BRDT', 'score': 11.59}, {'connected_gene': 'GLMN', 'score': 4.66}, {'connected_gene': 'TGFBR3', 'score': 0.44}, {'connected_gene': 'GC01P091939', 'score': 0.31}]
chr2 GH02I162316 162316600 162320840 2.17 [{'connected_gene': 'IFIH1', 'score': 550.77}, {'connected_gene': 'GCA', 'score': 550.77}, {'connected_gene': 'FAP', 'score': 4.91}, {'connected_gene': 'GC02M162307', 'score': 0.39}]
chr1 GH01I092831 92831312 92835545 2.14 [{'connected_gene': 'RPL5', 'score': 611.59}, {'connected_gene': 'GC01P092832', 'score': 550.77}, {'connected_gene': 'SNORA66', 'score': 94.11}, {'connected_gene': 'SNORD21', 'score': 86.82}, {'connected_gene': 'CCDC18-AS1', 'score': 63.47}, {'connected_gene': 'MTF2', 'score': 60.33}, {'connected_gene': 'MIG7', 'score': 42.32}, {'connected_gene': 'DR1', 'score': 40.0}, {'connected_gene': 'GLMN', 'score': 28.81}, {'connected_gene': 'RPAP2', 'score': 19.39}, {'connected_gene': 'KIAA1107', 'score': 10.88}, {'connected_gene': 'ENSG00000189195', 'score': 10.09}, {'connected_gene': 'EVI5', 'score': 9.9}, {'connected_gene': 'TGFBR3', 'score': 9.87}, {'connected_gene': 'FAM69A', 'score': 9.6}, {'connected_gene': 'GC01P092838', 'score': 0.77}]
chr1 GH01I092313 92313824 92319287 1.14 [{'connected_gene': 'FAM69A', 'score': 4.14}, {'connected_gene': 'RPAP2', 'score': 3.34}, {'connected_gene': 'TGFBR3', 'score': 2.64}, {'connected_gene': 'GC01P092398', 'score': 0.18}, {'connected_gene': 'GLMN', 'score': 0.13}]
chr1 GH01I092443 92443729 92445315 0.31 [{'connected_gene': 'FAM69A', 'score': 4.77}, {'connected_gene': 'GLMN', 'score': 0.77}, {'connected_gene': 'GC01P092463', 'score': 0.37}]
chr1 GH01I093177 93177600 93182349 2.32 [{'connected_gene': 'CCDC18', 'score': 560.56}, {'connected_gene': 'GC01M093180', 'score': 550.77}, {'connected_gene': 'TMED5', 'score': 550.77}, {'connected_gene': 'CCDC18-AS1', 'score': 96.21}, {'connected_gene': 'SNORA66', 'score': 67.22}, {'connected_gene': 'SNORD21', 'score': 58.68}, {'connected_gene': 'RPL5', 'score': 43.08}, {'connected_gene': 'MIG7', 'score': 30.1}, {'connected_gene': 'DNTTIP2', 'score': 29.51}, {'connected_gene': 'RPAP2', 'score': 22.5}, {'connected_gene': 'GLMN', 'score': 21.01}, {'connected_gene': 'MTF2', 'score': 12.3}, {'connected_gene': 'DR1', 'score': 10.04}, {'connected_gene': 'FNBP1L', 'score': 4.7}]
chr1 GH01I092536 92536097 92539244 1.63 [{'connected_gene': 'SNORA66', 'score': 17.61}, {'connected_gene': 'EVI5', 'score': 15.51}, {'connected_gene': 'CCDC18-AS1', 'score': 13.49}, {'connected_gene': 'SNORD21', 'score': 12.39}, {'connected_gene': 'RPL5', 'score': 11.5}, {'connected_gene': 'FAM69A', 'score': 10.51}, {'connected_gene': 'RPAP2', 'score': 3.08}, {'connected_gene': 'GLMN', 'score': 2.89}, {'connected_gene': 'GFI1', 'score': 2.06}, {'connected_gene': 'GC01P092533', 'score': 0.77}, {'connected_gene': 'GC01P092559', 'score': 0.34}]
chr1 GH01I092482 92482232 92487537 2.44 [{'connected_gene': 'GFI1', 'score': 553.87}, {'connected_gene': 'MTF2', 'score': 32.51}, {'connected_gene': 'FAM69A', 'score': 28.84}, {'connected_gene': 'EVI5', 'score': 17.16}, {'connected_gene': 'CCDC18-AS1', 'score': 16.11}, {'connected_gene': 'SNORA66', 'score': 13.77}, {'connected_gene': 'GLMN', 'score': 12.3}, {'connected_gene': 'SNORD21', 'score': 10.54}, {'connected_gene': 'CCDC18', 'score': 10.22}, {'connected_gene': 'ENSG00000189195', 'score': 9.71}, {'connected_gene': 'GC01P092471', 'score': 0.39}]
chr2 GH02I162184 162184931 162185080 0.52 [{'connected_gene': 'GCG', 'score': 0.29}, {'connected_gene': 'FAP', 'score': 0.21}]
chr2 GH02I162174 162174751 162175133 0.31 [{'connected_gene': 'GCG', 'score': 0.34}, {'connected_gene': 'FAP', 'score': 0.19}]
chr2 GH02I162343 162343342 162345601 1.98 [{'connected_gene': 'GCA', 'score': 562.59}, {'connected_gene': 'IFIH1', 'score': 12.59}, {'connected_gene': 'FAP', 'score': 4.98}, {'connected_gene': 'GC02P162329', 'score': 0.37}, {'connected_gene': 'RNA5SP109', 'score': 0.1}]
chr1 GH01I092803 92803513 92806601 1.38 [{'connected_gene': 'MTF2', 'score': 21.51}, {'connected_gene': 'GLMN', 'score': 21.33}, {'connected_gene': 'CCDC18-AS1', 'score': 15.75}, {'connected_gene': 'RPAP2', 'score': 14.01}, {'connected_gene': 'EVI5', 'score': 12.13}, {'connected_gene': 'MIG7', 'score': 11.61}, {'connected_gene': 'RPL5', 'score': 11.33}, {'connected_gene': 'SNORD21', 'score': 11.31}, {'connected_gene': 'SNORA66', 'score': 11.29}, {'connected_gene': 'GC01M092807', 'score': 0.77}]
chr1 GH01I093078 93078194 93082676 2.16 [{'connected_gene': 'MTF2', 'score': 602.55}, {'connected_gene': 'CCDC18-AS1', 'score': 148.72}, {'connected_gene': 'SNORA66', 'score': 54.71}, {'connected_gene': 'SNORD21', 'score': 50.35}, {'connected_gene': 'TRR-TCT1-1', 'score': 41.02}, {'connected_gene': 'GLMN', 'score': 40.91}, {'connected_gene': 'RPAP2', 'score': 40.48}, {'connected_gene': 'RPL5', 'score': 29.2}, {'connected_gene': 'DR1', 'score': 27.09}, {'connected_gene': 'DNTTIP2', 'score': 21.03}, {'connected_gene': 'KIAA1107', 'score': 14.18}, {'connected_gene': 'CCDC18', 'score': 10.93}, {'connected_gene': 'TMED5', 'score': 10.93}, {'connected_gene': 'FAM69A', 'score': 6.36}, {'connected_gene': 'GC01P093073', 'score': 0.44}, {'connected_gene': 'GC01P093147', 'score': 0.2}]
chr2 GH02I162084 162084672 162087293 1.25 [{'connected_gene': 'DPP4', 'score': 4.68}, {'connected_gene': 'FAP', 'score': 2.45}, {'connected_gene': 'EIF3EP2', 'score': 0.77}, {'connected_gene': 'TIMM8AP1', 'score': 0.44}]
chr1 GH01I091863 91863876 91865160 1.31 [{'connected_gene': 'HFM1', 'score': 28.65}, {'connected_gene': 'RPAP2', 'score': 21.09}, {'connected_gene': 'GLMN', 'score': 13.49}, {'connected_gene': 'ENSG00000189195', 'score': 11.2}, {'connected_gene': 'GC01M091855', 'score': 0.39}, {'connected_gene': 'GC01P091842', 'score': 0.34}, {'connected_gene': 'TGFBR3', 'score': 0.26}]
chr1 GH01I092259 92259530 92259754 0.26 [{'connected_gene': 'GLMN', 'score': 1.59}, {'connected_gene': 'RPAP2', 'score': 1.47}, {'connected_gene': 'GC01M092280', 'score': 0.37}, {'connected_gene': 'PIR32757', 'score': 0.37}, {'connected_gene': 'ACTBP12', 'score': 0.29}]
chr2 GH02I162297 162297755 162298400 0.62 [{'connected_gene': 'FAP', 'score': 5.31}, {'connected_gene': 'GC02M162307', 'score': 0.39}, {'connected_gene': 'IFIH1', 'score': 0.34}, {'connected_gene': 'GC02P162270', 'score': 0.31}]
chr2 GH02I162211 162211794 162213251 0.2 [{'connected_gene': 'FAP', 'score': 15.23}, {'connected_gene': 'GCG', 'score': 11.29}, {'connected_gene': 'LOC101929532', 'score': 10.97}]
chr2 GH02I162219 162219605 162219680 0.2 [{'connected_gene': 'FAP', 'score': 11.4}, {'connected_gene': 'GCG', 'score': 0.2}]
chr2 GH02I162220 162220215 162221300 0.83 [{'connected_gene': 'FAP', 'score': 11.8}, {'connected_gene': 'GCG', 'score': 0.2}]
chr2 GH02I162321 162321401 162321600 0.51 [{'connected_gene': 'FAP', 'score': 4.38}, {'connected_gene': 'PIR31305', 'score': 0.77}, {'connected_gene': 'GCA', 'score': 0.77}]
chr1 GH01I091734 91734345 91739309 1.51 [{'connected_gene': 'GLMN', 'score': 10.7}, {'connected_gene': 'HFM1', 'score': 4.59}, {'connected_gene': 'GC01M091707', 'score': 0.31}, {'connected_gene': 'GC01M091774', 'score': 0.28}, {'connected_gene': 'TGFBR3', 'score': 0.1}]
chr2 GH02I162240 162240401 162247248 1.94 [{'connected_gene': 'FAP', 'score': 555.33}, {'connected_gene': 'LOC105373724', 'score': 0.77}, {'connected_gene': 'GCG', 'score': 0.16}]
chr2 GH02I162256 162256079 162258210 0.38 [{'connected_gene': 'FAP', 'score': 5.27}, {'connected_gene': 'LOC105373724', 'score': 0.39}, {'connected_gene': 'GC02P162270', 'score': 0.39}]
chr2 GH02I162260 162260772 162262312 0.89 [{'connected_gene': 'FAP', 'score': 5.39}, {'connected_gene': 'GC02P162270', 'score': 0.44}, {'connected_gene': 'LOC105373724', 'score': 0.37}]
chr2 GH02I162196 162196600 162200136 0.63 [{'connected_gene': 'FAP', 'score': 16.97}, {'connected_gene': 'LOC101929532', 'score': 11.02}, {'connected_gene': 'GCG', 'score': 0.25}]
chr1 GH01I092446 92446684 92446793 0.89 [{'connected_gene': 'GLMN', 'score': 0.77}, {'connected_gene': 'GC01P092463', 'score': 0.37}]
chr1 GH01I092441 92441491 92442473 1.1 [{'connected_gene': 'GLMN', 'score': 550.77}, {'connected_gene': 'GC01P092463', 'score': 0.34}]
chr2 GH02I162231 162231841 162234501 0.51 [{'connected_gene': 'LOC101929532', 'score': 10.79}, {'connected_gene': 'FAP', 'score': 0.39}, {'connected_gene': 'GCG', 'score': 0.18}]
chr2 GH02I162265 162265667 162267011 0.4 [{'connected_gene': 'LOC101929532', 'score': 10.53}, {'connected_gene': 'FAP', 'score': 5.57}, {'connected_gene': 'GC02P162270', 'score': 0.77}, {'connected_gene': 'LOC105373724', 'score': 0.34}]
chr1 GH01I092458 92458601 92458800 0.4 [{'connected_gene': 'GC01P092463', 'score': 0.77}, {'connected_gene': 'GLMN', 'score': 0.37}]
chr1 GH01I092461 92461601 92462000 0.83 [{'connected_gene': 'GC01P092463', 'score': 550.77}, {'connected_gene': 'GLMN', 'score': 0.37}]

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