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
ENST00000547219 [[69864128, 69864310], [69874078, 69874139], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962876], [69964110, 69964152]] [[69962810, 69962876], [69964110, 69964152]]
ENST00000299293 [[69864128, 69864310], [69924644, 69924740], [69925793, 69925836], [69931695, 69931763], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973559]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
ENST00000549921 [[69864154, 69864310], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968744]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
ENST00000550316 [[69864157, 69864310], [69879981, 69880077], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962846]] [[69962810, 69962846]]
ENST00000548154 [[69864162, 69864310], [69924644, 69924740], [69925793, 69925836], [69931695, 69931763], [69955959, 69956054], [69962784, 69962876], [69964110, 69964165]] [[69962810, 69962876], [69964110, 69964165]]
ENST00000547414 [[69864162, 69864310], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69964110, 69964249]] [[69964155, 69964249]]
ENST00000550389 [[69864185, 69864310], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973562]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
ENST00000550937 [[69864187, 69864310], [69924644, 69924740], [69925793, 69925836], [69931695, 69931763], [69951579, 69951636], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965075]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965075]]
ENST00000549092 [[69864199, 69864310], [69885317, 69885431], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962876], [69964110, 69964143]] [[69962810, 69962876], [69964110, 69964143]]
ENST00000550169 [[69864213, 69864310], [69885317, 69885431], [69924644, 69924740], [69925793, 69925836], [69931695, 69931763], [69955959, 69956054], [69962784, 69962841]] [[69962810, 69962841]]
ENST00000397997 [[69924602, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973559]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
ENST00000551325 [[69955927, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966036]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966036]]
NM_001278357 [[69864128, 69864310], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973573]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
NM_001278356 [[69864128, 69864310], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973573]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
NM_006654 [[69864128, 69864310], [69924644, 69924740], [69925793, 69925836], [69931695, 69931763], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973573]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
NM_001278353 [[69864128, 69864310], [69924644, 69924740], [69925793, 69925836], [69931695, 69931763], [69951579, 69951636], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973573]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
NM_001278354 [[69864128, 69864310], [69885317, 69885431], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973573]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
NM_001278351 [[69864128, 69864310], [69885317, 69885431], [69924644, 69924740], [69925793, 69925836], [69931695, 69931763], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973573]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
NM_001278355 [[69864128, 69864310], [69879981, 69880077], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973573]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
NM_001042555 [[69864128, 69864310], [69874078, 69874139], [69924644, 69924740], [69925793, 69925836], [69955959, 69956054], [69962784, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69973573]] [[69962810, 69962876], [69964110, 69964297], [69965055, 69965214], [69965897, 69966061], [69967784, 69968735]]
Promoter
Chrom Start End Description
chr12 69864149 69864222 CAGE_peak_1_at_FRS2_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr12 GH12I069553 69553624 69556782 0.95 [{'connected_gene': 'NUP107', 'score': 15.96}, {'connected_gene': 'CNOT2', 'score': 13.66}, {'connected_gene': 'KRT8P39', 'score': 12.99}, {'connected_gene': 'CPSF6', 'score': 11.73}, {'connected_gene': 'FRS2', 'score': 7.42}, {'connected_gene': 'CCT2', 'score': 5.0}, {'connected_gene': 'MIR3913-2', 'score': 0.31}, {'connected_gene': 'GC12P069484', 'score': 0.19}, {'connected_gene': 'GC12P069483', 'score': 0.19}]
chr12 GH12I070241 70241572 70245494 2.31 [{'connected_gene': 'CNOT2', 'score': 600.89}, {'connected_gene': 'ENSG00000257815', 'score': 562.66}, {'connected_gene': 'LINC01481', 'score': 556.2}, {'connected_gene': 'KCNMB4', 'score': 12.37}, {'connected_gene': 'FRS2', 'score': 9.66}, {'connected_gene': 'LOC105369826', 'score': 7.86}, {'connected_gene': 'ENSG00000279530', 'score': 0.18}]
chr12 GH12I068983 68983074 68983262 0.22 [{'connected_gene': 'MDM2', 'score': 37.01}, {'connected_gene': 'FRS2', 'score': 36.02}, {'connected_gene': 'CPSF6', 'score': 35.69}, {'connected_gene': 'YEATS4', 'score': 35.49}, {'connected_gene': 'NUP107', 'score': 17.28}, {'connected_gene': 'SLC35E3', 'score': 7.48}, {'connected_gene': 'CPM', 'score': 1.81}, {'connected_gene': 'GC12M069009', 'score': 0.31}]
chr12 GH12I069390 69390001 69390110 0.31 [{'connected_gene': 'LYZ', 'score': 11.15}, {'connected_gene': 'FRS2', 'score': 10.39}, {'connected_gene': 'RN7SL804P', 'score': 0.39}, {'connected_gene': 'YEATS4', 'score': 0.29}]
chr12 GH12I069404 69404130 69406882 0.88 [{'connected_gene': 'LYZ', 'score': 15.05}, {'connected_gene': 'FRS2', 'score': 10.74}, {'connected_gene': 'CCT2', 'score': 10.04}, {'connected_gene': 'YEATS4', 'score': 6.15}, {'connected_gene': 'RN7SL804P', 'score': 0.77}, {'connected_gene': 'RPS26P45', 'score': 0.37}]
chr12 GH12I070365 70365261 70368000 1.94 [{'connected_gene': 'KCNMB4', 'score': 558.56}, {'connected_gene': 'FRS2', 'score': 13.77}, {'connected_gene': 'CNOT2', 'score': 11.13}, {'connected_gene': 'ENSG00000257815', 'score': 10.17}, {'connected_gene': 'LINC02373', 'score': 9.87}, {'connected_gene': 'GC12P070431', 'score': 0.2}]
chr12 GH12I069533 69533538 69536599 1 [{'connected_gene': 'CPSF6', 'score': 18.19}, {'connected_gene': 'NUP107', 'score': 16.98}, {'connected_gene': 'CNOT2', 'score': 12.76}, {'connected_gene': 'KRT8P39', 'score': 12.01}, {'connected_gene': 'YEATS4', 'score': 10.14}, {'connected_gene': 'FRS2', 'score': 7.33}, {'connected_gene': 'MIR3913-2', 'score': 0.25}, {'connected_gene': 'GC12P069484', 'score': 0.23}, {'connected_gene': 'GC12P069483', 'score': 0.23}]
chr12 GH12I069023 69023790 69025746 1.16 [{'connected_gene': 'CPSF6', 'score': 21.54}, {'connected_gene': 'MDM2', 'score': 20.87}, {'connected_gene': 'YEATS4', 'score': 20.28}, {'connected_gene': 'FRS2', 'score': 20.03}, {'connected_gene': 'NUP107', 'score': 12.2}, {'connected_gene': 'SLC35E3', 'score': 6.8}, {'connected_gene': 'GC12M069009', 'score': 0.37}, {'connected_gene': 'GC12M069139', 'score': 0.13}]
chr12 GH12I069238 69238484 69241576 2.3 [{'connected_gene': 'CPSF6', 'score': 559.71}, {'connected_gene': 'LYZ', 'score': 23.47}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'NUP107', 'score': 10.24}, {'connected_gene': 'MDM2', 'score': 8.14}, {'connected_gene': 'YEATS4', 'score': 8.13}, {'connected_gene': 'FRS2', 'score': 7.94}, {'connected_gene': 'CCT2', 'score': 6.82}, {'connected_gene': 'SLC35E3', 'score': 3.65}, {'connected_gene': 'RAB3IP', 'score': 3.6}, {'connected_gene': 'GC12P069269', 'score': 0.31}]
chr12 GH12I069900 69900261 69902065 0.98 [{'connected_gene': 'CPSF6', 'score': 10.27}, {'connected_gene': 'FRS2', 'score': 9.95}, {'connected_gene': 'RAB3IP', 'score': 6.71}, {'connected_gene': 'MYRFL', 'score': 5.78}, {'connected_gene': 'ENSG00000257241', 'score': 0.25}]
chr12 GH12I069438 69438291 69439128 0.66 [{'connected_gene': 'FRS2', 'score': 4.51}, {'connected_gene': 'NUP107', 'score': 4.32}, {'connected_gene': 'LINC02373', 'score': 0.44}]
chr12 GH12I069427 69427645 69430192 0.38 [{'connected_gene': 'FRS2', 'score': 11.15}, {'connected_gene': 'LYZ', 'score': 10.41}, {'connected_gene': 'YEATS4', 'score': 5.79}, {'connected_gene': 'GC12P069426', 'score': 0.77}, {'connected_gene': 'LINC02373', 'score': 0.77}]
chr12 GH12I069526 69526959 69529328 0.79 [{'connected_gene': 'FRS2', 'score': 18.68}, {'connected_gene': 'LYZ', 'score': 10.79}, {'connected_gene': 'CCT2', 'score': 5.2}, {'connected_gene': 'YEATS4', 'score': 4.8}, {'connected_gene': 'GC12P069484', 'score': 0.26}, {'connected_gene': 'GC12P069483', 'score': 0.26}, {'connected_gene': 'MIR3913-2', 'score': 0.22}]
chr12 GH12I069568 69568857 69571310 0.88 [{'connected_gene': 'FRS2', 'score': 18.1}, {'connected_gene': 'LYZ', 'score': 10.66}, {'connected_gene': 'MIR3913-2', 'score': 0.39}, {'connected_gene': 'GC12P069484', 'score': 0.17}, {'connected_gene': 'GC12P069483', 'score': 0.17}]
chr12 GH12I069445 69445834 69446044 0.22 [{'connected_gene': 'FRS2', 'score': 3.61}, {'connected_gene': 'CPSF6', 'score': 3.17}, {'connected_gene': 'CCT2', 'score': 3.14}, {'connected_gene': 'YEATS4', 'score': 3.12}, {'connected_gene': 'LINC02373', 'score': 0.39}]
chr12 GH12I069469 69469780 69471919 2.05 [{'connected_gene': 'FRS2', 'score': 557.94}, {'connected_gene': 'CCT2', 'score': 10.12}, {'connected_gene': 'LYZ', 'score': 9.86}, {'connected_gene': 'GC12P069484', 'score': 0.39}, {'connected_gene': 'GC12P069483', 'score': 0.39}]
chr12 GH12I069442 69442632 69443663 0.31 [{'connected_gene': 'FRS2', 'score': 5.26}, {'connected_gene': 'LINC02373', 'score': 0.39}]
chr12 GH12I069466 69466772 69467800 0.84 [{'connected_gene': 'FRS2', 'score': 0.77}, {'connected_gene': 'LINC02373', 'score': 0.28}]
chr12 GH12I069468 69468400 69468800 0.63 [{'connected_gene': 'FRS2', 'score': 555.11}, {'connected_gene': 'LINC02373', 'score': 0.28}]
chr12 GH12I069439 69439752 69441193 0.74 [{'connected_gene': 'FRS2', 'score': 5.1}, {'connected_gene': 'LINC02373', 'score': 0.44}]
chr12 GH12I069541 69541141 69541310 0.31 [{'connected_gene': 'FRS2', 'score': 5.01}, {'connected_gene': 'MIR3913-2', 'score': 0.26}, {'connected_gene': 'GC12P069484', 'score': 0.22}, {'connected_gene': 'GC12P069483', 'score': 0.22}]
chr12 GH12I069544 69544048 69544107 0.5 [{'connected_gene': 'FRS2', 'score': 550.19}, {'connected_gene': 'MIR3913-2', 'score': 0.26}, {'connected_gene': 'GC12P069484', 'score': 0.21}, {'connected_gene': 'GC12P069483', 'score': 0.21}]
chr12 GH12I069502 69502324 69503010 0.83 [{'connected_gene': 'FRS2', 'score': 18.7}, {'connected_gene': 'GC12P069484', 'score': 0.37}, {'connected_gene': 'GC12P069483', 'score': 0.37}, {'connected_gene': 'MIR3913-2', 'score': 0.18}]
chr12 GH12I069501 69501201 69501805 0.43 [{'connected_gene': 'FRS2', 'score': 16.42}, {'connected_gene': 'GC12P069484', 'score': 0.37}, {'connected_gene': 'GC12P069483', 'score': 0.37}, {'connected_gene': 'MIR3913-2', 'score': 0.18}]
chr12 GH12I069508 69508772 69508850 0.31 [{'connected_gene': 'FRS2', 'score': 11.4}, {'connected_gene': 'GC12P069484', 'score': 0.31}, {'connected_gene': 'GC12P069483', 'score': 0.31}, {'connected_gene': 'MIR3913-2', 'score': 0.18}]
chr12 GH12I069497 69497064 69498326 0.74 [{'connected_gene': 'FRS2', 'score': 19.88}, {'connected_gene': 'GC12P069484', 'score': 0.39}, {'connected_gene': 'GC12P069483', 'score': 0.39}, {'connected_gene': 'MIR3913-2', 'score': 0.17}]
chr12 GH12I069509 69509201 69509800 0.56 [{'connected_gene': 'FRS2', 'score': 19.14}, {'connected_gene': 'GC12P069484', 'score': 0.31}, {'connected_gene': 'GC12P069483', 'score': 0.31}, {'connected_gene': 'MIR3913-2', 'score': 0.18}]
chr12 GH12I069500 69500680 69501010 0.2 [{'connected_gene': 'FRS2', 'score': 11.61}, {'connected_gene': 'GC12P069484', 'score': 0.37}, {'connected_gene': 'GC12P069483', 'score': 0.37}, {'connected_gene': 'MIR3913-2', 'score': 0.18}]
chr12 GH12I069474 69474420 69476417 1.17 [{'connected_gene': 'CCT2', 'score': 16.73}, {'connected_gene': 'FRS2', 'score': 12.88}, {'connected_gene': 'LYZ', 'score': 9.86}, {'connected_gene': 'CPSF6', 'score': 6.87}, {'connected_gene': 'YEATS4', 'score': 6.67}, {'connected_gene': 'RAB3IP', 'score': 1.55}, {'connected_gene': 'GC12P069484', 'score': 0.44}, {'connected_gene': 'GC12P069483', 'score': 0.44}]
chr12 GH12I069619 69619509 69619530 0.23 [{'connected_gene': 'CCT2', 'score': 20.04}, {'connected_gene': 'FRS2', 'score': 19.78}, {'connected_gene': 'CPSF6', 'score': 19.26}, {'connected_gene': 'YEATS4', 'score': 18.54}, {'connected_gene': 'LYZ', 'score': 10.65}, {'connected_gene': 'RAB3IP', 'score': 2.06}, {'connected_gene': 'LOC105369823', 'score': 0.77}, {'connected_gene': 'LRRC10', 'score': 0.44}]
chr12 GH12I069584 69584769 69586522 2.08 [{'connected_gene': 'CCT2', 'score': 555.47}, {'connected_gene': 'MIR3913-1', 'score': 550.77}, {'connected_gene': 'MIR3913-2', 'score': 550.77}, {'connected_gene': 'FRS2', 'score': 17.32}, {'connected_gene': 'RAP1B', 'score': 13.28}, {'connected_gene': 'NUP107', 'score': 10.24}, {'connected_gene': 'LYZ', 'score': 10.13}, {'connected_gene': 'LRRC10', 'score': 0.31}]
chr12 GH12I069006 69006235 69009579 1.32 [{'connected_gene': 'GC12M069009', 'score': 550.77}, {'connected_gene': 'CPM', 'score': 37.58}, {'connected_gene': 'RAP1B', 'score': 11.78}, {'connected_gene': 'LYZ', 'score': 8.74}, {'connected_gene': 'CPSF6', 'score': 4.08}, {'connected_gene': 'MDM2', 'score': 4.07}, {'connected_gene': 'FRS2', 'score': 3.93}, {'connected_gene': 'YEATS4', 'score': 3.65}, {'connected_gene': 'SLC35E3', 'score': 3.13}, {'connected_gene': 'NUP107', 'score': 2.54}]
chr12 GH12I069354 69354701 69354850 1.05 [{'connected_gene': 'ENSG00000257764', 'score': 550.77}, {'connected_gene': 'FRS2', 'score': 9.95}, {'connected_gene': 'YEATS4', 'score': 9.88}]
chr12 GH12I069519 69519941 69520150 0.38 [{'connected_gene': 'GC12P069484', 'score': 0.28}, {'connected_gene': 'GC12P069483', 'score': 0.28}, {'connected_gene': 'FRS2', 'score': 0.25}, {'connected_gene': 'MIR3913-2', 'score': 0.21}]

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