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
ENST00000396594 [[36214437, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249394], [36276890, 36277053]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249394], [36276890, 36276941]]
ENST00000539815 [[36214440, 36215288], [36216762, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249393]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249352]]
ENST00000543356 [[36216939, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36276890, 36277039]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36276890, 36277039]]
ENST00000539208 [[36217148, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36246027, 36246479], [36258317, 36258442]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36246027, 36246466]]
ENST00000447283 [[36217185, 36217597], [36218179, 36218296], [36219834, 36220017], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249394], [36258317, 36258326]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249352]]
ENST00000377902 [[36217186, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249394], [36258317, 36258496]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249352]]
NM_005476 [[36214437, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249394], [36258317, 36258496]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249352]]
NM_001190383 [[36214437, 36217597], [36218179, 36218296], [36219834, 36220017], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249394], [36258317, 36258496]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249352]]
NM_001190384 [[36214437, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36246027, 36246479], [36258317, 36258496]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36246027, 36246466]]
NM_001128227 [[36214437, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249394], [36276890, 36277053]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36249188, 36249394], [36276890, 36276941]]
NM_001190388 [[36214437, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36276890, 36277053]] [[36217361, 36217597], [36218179, 36218296], [36219834, 36220017], [36222773, 36222995], [36223369, 36223499], [36227244, 36227455], [36229017, 36229105], [36233916, 36234129], [36236828, 36236981], [36246027, 36246479], [36276890, 36277039]]
Promoter
Chrom Start End Description
chr9 36258399 36258406 CAGE_peak_6_at_GNE_5end
chr9 36258431 36258456 CAGE_peak_1_at_GNE_5end
chr9 36258457 36258468 CAGE_peak_4_at_GNE_5end
chr9 36258469 36258481 CAGE_peak_3_at_GNE_5end
chr9 36258501 36258504 CAGE_peak_7_at_GNE_5end
chr9 36276966 36276992 CAGE_peak_2_at_GNE_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr9 GH09I036213 36213351 36213505 0.53 [{'connected_gene': 'CCIN', 'score': 55.5}, {'connected_gene': 'FAM221B', 'score': 41.69}, {'connected_gene': 'CLTA', 'score': 11.93}, {'connected_gene': 'GNE', 'score': 10.53}, {'connected_gene': 'GLIPR2', 'score': 10.31}, {'connected_gene': 'SPAG8', 'score': 7.03}, {'connected_gene': 'RNF38', 'score': 1.55}, {'connected_gene': 'PIR52930', 'score': 0.44}]
chr9 GH09I036147 36147382 36149851 1.19 [{'connected_gene': 'CCIN', 'score': 12.59}, {'connected_gene': 'CLTA', 'score': 11.26}, {'connected_gene': 'ZCCHC7', 'score': 10.81}, {'connected_gene': 'RECK', 'score': 9.84}, {'connected_gene': 'GLIPR2', 'score': 7.63}, {'connected_gene': 'GNE', 'score': 5.55}]
chr9 GH09I036090 36090170 36093399 0.91 [{'connected_gene': 'PIGO', 'score': 13.78}, {'connected_gene': 'GLIPR2', 'score': 12.05}, {'connected_gene': 'CCIN', 'score': 11.82}, {'connected_gene': 'HMGB3P24', 'score': 9.8}, {'connected_gene': 'GNE', 'score': 9.34}, {'connected_gene': 'RECK', 'score': 5.67}, {'connected_gene': 'ENSG00000276730', 'score': 0.37}]
chr9 GH09I036283 36283954 36284931 0.64 [{'connected_gene': 'ZCCHC7', 'score': 40.2}, {'connected_gene': 'HMGB3P24', 'score': 19.37}, {'connected_gene': 'ARHGEF39', 'score': 12.58}, {'connected_gene': 'SPAG8', 'score': 12.4}, {'connected_gene': 'TMEM8B', 'score': 11.31}, {'connected_gene': 'RUSC2', 'score': 11.16}, {'connected_gene': 'ENSG00000231393', 'score': 10.39}, {'connected_gene': 'RNF38', 'score': 10.16}, {'connected_gene': 'RGP1', 'score': 10.1}, {'connected_gene': 'FAM221B', 'score': 5.85}, {'connected_gene': 'GNE', 'score': 5.47}, {'connected_gene': 'PIR32038', 'score': 0.37}, {'connected_gene': 'LOC102724322', 'score': 0.31}, {'connected_gene': 'CLTA', 'score': 0.16}]
chr9 GH09I036023 36023544 36023693 0.59 [{'connected_gene': 'OR2AM1P', 'score': 550.77}, {'connected_gene': 'HRCT1', 'score': 10.49}, {'connected_gene': 'GLIPR2', 'score': 10.26}, {'connected_gene': 'GBA2', 'score': 9.28}, {'connected_gene': 'TMEM8B', 'score': 9.28}, {'connected_gene': 'HINT2', 'score': 9.28}, {'connected_gene': 'SPAG8', 'score': 9.27}, {'connected_gene': 'MSMP', 'score': 9.06}, {'connected_gene': 'ENSG00000228843', 'score': 9.06}, {'connected_gene': 'RGP1', 'score': 9.06}, {'connected_gene': 'GNE', 'score': 8.65}, {'connected_gene': 'RECK', 'score': 0.39}]
chr9 GH09I036392 36392644 36392793 0.31 [{'connected_gene': 'HMGB3P24', 'score': 11.27}, {'connected_gene': 'GNE', 'score': 10.08}, {'connected_gene': 'MRPS21P4', 'score': 0.37}, {'connected_gene': 'RNF38', 'score': 0.16}]
chr9 GH09I036294 36294078 36294257 0.24 [{'connected_gene': 'OR2S2', 'score': 10.15}, {'connected_gene': 'GNE', 'score': 7.83}, {'connected_gene': 'OR13J1', 'score': 3.14}, {'connected_gene': 'PIR32038', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.28}, {'connected_gene': 'CLTA', 'score': 0.15}]
chr9 GH09I035959 35959664 35961045 0.2 [{'connected_gene': 'OR13J1', 'score': 10.98}, {'connected_gene': 'NDUFA5P4', 'score': 10.98}, {'connected_gene': 'GLIPR2', 'score': 10.26}, {'connected_gene': 'ENSG00000227388', 'score': 9.61}, {'connected_gene': 'NPR2', 'score': 9.6}, {'connected_gene': 'GNE', 'score': 9.34}, {'connected_gene': 'OR2S1P', 'score': 4.61}, {'connected_gene': 'OR2S2', 'score': 0.77}, {'connected_gene': 'PIR48374', 'score': 0.39}]
chr9 GH09I036063 36063442 36064880 0.49 [{'connected_gene': 'GLIPR2', 'score': 11.4}, {'connected_gene': 'CLTA', 'score': 9.84}, {'connected_gene': 'GNE', 'score': 9.22}, {'connected_gene': 'ENSG00000276730', 'score': 0.44}, {'connected_gene': 'RECK', 'score': 0.31}]
chr9 GH09I036082 36082849 36083675 0.2 [{'connected_gene': 'GLIPR2', 'score': 11.52}, {'connected_gene': 'GNE', 'score': 9.45}, {'connected_gene': 'ENSG00000276730', 'score': 0.39}, {'connected_gene': 'RECK', 'score': 0.25}]
chr9 GH09I036150 36150001 36155966 1.48 [{'connected_gene': 'GLIPR2', 'score': 18.75}, {'connected_gene': 'GNE', 'score': 6.74}, {'connected_gene': 'HMGB3P24', 'score': 4.92}, {'connected_gene': 'OR2S2', 'score': 4.18}, {'connected_gene': 'TLN1', 'score': 1.23}, {'connected_gene': 'OR13J1', 'score': 1.2}, {'connected_gene': 'CCIN', 'score': 0.37}]
chr9 GH09I036316 36316639 36321272 1 [{'connected_gene': 'GLIPR2', 'score': 5.68}, {'connected_gene': 'GNE', 'score': 5.5}, {'connected_gene': 'HMGB3P24', 'score': 5.09}, {'connected_gene': 'RNF38', 'score': 4.46}, {'connected_gene': 'MRPS21P4', 'score': 0.16}]
chr9 GH09I036419 36419192 36420756 0.91 [{'connected_gene': 'RNF38', 'score': 19.0}, {'connected_gene': 'MELK', 'score': 12.27}, {'connected_gene': 'GNE', 'score': 9.94}, {'connected_gene': 'MRPS21P4', 'score': 0.44}]
chr9 GH09I036456 36456487 36459471 0.97 [{'connected_gene': 'RNF38', 'score': 12.48}, {'connected_gene': 'CLTA', 'score': 10.44}, {'connected_gene': 'GNE', 'score': 9.53}, {'connected_gene': 'MRPS21P4', 'score': 0.25}]
chr9 GH09I036217 36216244 36216393 0.67 [{'connected_gene': 'CLTA', 'score': 11.54}, {'connected_gene': 'HMGB3P24', 'score': 11.09}, {'connected_gene': 'GNE', 'score': 10.95}, {'connected_gene': 'PIR52930', 'score': 0.77}]
chr9 GH09I036016 36016898 36019790 0.51 [{'connected_gene': 'CLTA', 'score': 11.17}, {'connected_gene': 'HRCT1', 'score': 10.78}, {'connected_gene': 'GLIPR2', 'score': 10.72}, {'connected_gene': 'ENSG00000227388', 'score': 10.09}, {'connected_gene': 'NPR2', 'score': 10.09}, {'connected_gene': 'GNE', 'score': 9.42}, {'connected_gene': 'OR2AM1P', 'score': 0.77}, {'connected_gene': 'OR2S1P', 'score': 0.44}]
chr9 GH09I036189 36189718 36192764 2.25 [{'connected_gene': 'CLTA', 'score': 556.34}, {'connected_gene': 'RGP1', 'score': 13.03}, {'connected_gene': 'ARHGEF39', 'score': 12.23}, {'connected_gene': 'ZCCHC7', 'score': 11.98}, {'connected_gene': 'GLIPR2', 'score': 10.8}, {'connected_gene': 'GNE', 'score': 4.98}, {'connected_gene': 'PIR52930', 'score': 0.31}]
chr9 GH09I036267 36267867 36268844 0.46 [{'connected_gene': 'RNU4-53P', 'score': 550.77}, {'connected_gene': 'GNE', 'score': 16.73}, {'connected_gene': 'LOC102724322', 'score': 0.39}, {'connected_gene': 'CLTA', 'score': 0.18}]
chr9 GH09I036173 36173803 36176135 0.38 [{'connected_gene': 'GNE', 'score': 8.3}, {'connected_gene': 'CCIN', 'score': 0.44}, {'connected_gene': 'CLTA', 'score': 0.37}]
chr9 GH09I036295 36295025 36299058 0.67 [{'connected_gene': 'GNE', 'score': 14.25}, {'connected_gene': 'FAM221B', 'score': 5.31}, {'connected_gene': 'HMGB3P24', 'score': 4.64}, {'connected_gene': 'PIR32038', 'score': 0.77}, {'connected_gene': 'LOC102724322', 'score': 0.28}, {'connected_gene': 'CLTA', 'score': 0.14}]
chr9 GH09I036378 36378801 36380065 0.43 [{'connected_gene': 'GNE', 'score': 10.43}, {'connected_gene': 'MRPS21P4', 'score': 0.29}, {'connected_gene': 'HMGB3P24', 'score': 0.19}, {'connected_gene': 'RNF38', 'score': 0.14}]
chr9 GH09I036423 36423196 36423706 0.31 [{'connected_gene': 'GNE', 'score': 9.79}, {'connected_gene': 'MRPS21P4', 'score': 0.39}, {'connected_gene': 'RNF38', 'score': 0.21}]
chr9 GH09I036292 36292693 36293393 0.43 [{'connected_gene': 'GNE', 'score': 14.05}, {'connected_gene': 'RNF38', 'score': 4.57}, {'connected_gene': 'PIR32038', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.28}, {'connected_gene': 'CLTA', 'score': 0.15}]
chr9 GH09I036346 36346964 36347153 0.2 [{'connected_gene': 'GNE', 'score': 10.56}, {'connected_gene': 'RNU4-53P', 'score': 10.55}, {'connected_gene': 'HMGB3P24', 'score': 0.26}, {'connected_gene': 'MRPS21P4', 'score': 0.21}, {'connected_gene': 'RNF38', 'score': 0.11}]
chr9 GH09I036382 36382411 36384234 0.84 [{'connected_gene': 'GNE', 'score': 10.6}, {'connected_gene': 'RNU4-53P', 'score': 10.58}, {'connected_gene': 'MRPS21P4', 'score': 0.31}, {'connected_gene': 'HMGB3P24', 'score': 0.18}, {'connected_gene': 'RNF38', 'score': 0.15}]
chr9 GH09I036206 36206170 36209263 0.98 [{'connected_gene': 'GNE', 'score': 16.02}, {'connected_gene': 'RNU4-53P', 'score': 11.22}, {'connected_gene': 'GLIPR2', 'score': 11.17}, {'connected_gene': 'CLTA', 'score': 5.57}, {'connected_gene': 'PIR52930', 'score': 0.39}]
chr9 GH09I036273 36273504 36273673 0.63 [{'connected_gene': 'GNE', 'score': 0.77}, {'connected_gene': 'RNU4-53P', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.37}, {'connected_gene': 'CLTA', 'score': 0.18}]
chr9 GH09I036275 36275141 36275436 0.2 [{'connected_gene': 'GNE', 'score': 550.77}, {'connected_gene': 'RNU4-53P', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.37}, {'connected_gene': 'CLTA', 'score': 0.18}]
chr9 GH09I036276 36276273 36277710 1.24 [{'connected_gene': 'GNE', 'score': 567.07}, {'connected_gene': 'RNU4-53P', 'score': 0.44}, {'connected_gene': 'LOC102724322', 'score': 0.37}, {'connected_gene': 'CLTA', 'score': 0.17}]
chr9 GH09I036256 36256836 36259443 2.07 [{'connected_gene': 'GNE', 'score': 565.94}, {'connected_gene': 'LOC102724322', 'score': 550.77}, {'connected_gene': 'TMEM8B', 'score': 11.22}, {'connected_gene': 'NPR2', 'score': 10.66}, {'connected_gene': 'CLTA', 'score': 10.5}, {'connected_gene': 'RNU4-53P', 'score': 0.44}]
chr9 GH09I036249 36249001 36249400 0.31 [{'connected_gene': 'GNE', 'score': 11.61}, {'connected_gene': 'LOC102724322', 'score': 0.44}, {'connected_gene': 'PIR52930', 'score': 0.31}, {'connected_gene': 'CLTA', 'score': 0.22}]
chr9 GH09I036232 36232005 36232128 0.26 [{'connected_gene': 'GNE', 'score': 2.64}, {'connected_gene': 'PIR52930', 'score': 0.39}, {'connected_gene': 'LOC102724322', 'score': 0.31}, {'connected_gene': 'CLTA', 'score': 0.26}]
chr9 GH09I036233 36232968 36233108 0.27 [{'connected_gene': 'GNE', 'score': 5.45}, {'connected_gene': 'PIR52930', 'score': 0.39}, {'connected_gene': 'LOC102724322', 'score': 0.34}, {'connected_gene': 'CLTA', 'score': 0.26}]
chr9 GH09I035962 35962020 35963006 0.51 [{'connected_gene': 'NDUFA5P4', 'score': 10.98}, {'connected_gene': 'OR13J1', 'score': 10.97}, {'connected_gene': 'GLIPR2', 'score': 10.25}, {'connected_gene': 'GNE', 'score': 9.34}, {'connected_gene': 'OR2S1P', 'score': 5.2}, {'connected_gene': 'TMEM8B', 'score': 4.31}, {'connected_gene': 'OR2S2', 'score': 0.77}, {'connected_gene': 'PIR48374', 'score': 0.44}]
chr9 GH09I036073 36073625 36075531 0.72 [{'connected_gene': 'ENSG00000276730', 'score': 550.77}, {'connected_gene': 'GLIPR2', 'score': 11.5}, {'connected_gene': 'GNE', 'score': 9.61}, {'connected_gene': 'RECK', 'score': 8.88}]
chr9 GH09I036216 36216732 36220736 0.49 [{'connected_gene': 'PIR52930', 'score': 550.77}, {'connected_gene': 'GNE', 'score': 26.29}, {'connected_gene': 'CLTA', 'score': 11.54}, {'connected_gene': 'RNU4-53P', 'score': 11.24}, {'connected_gene': 'HMGB3P24', 'score': 11.09}, {'connected_gene': 'GLIPR2', 'score': 10.39}]

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