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
ENST00000304636 [[189839045, 189839294], [189849485, 189849688], [189849922, 189849973], [189850390, 189850504], [189851784, 189851865], [189852806, 189852860], [189853315, 189853369], [189854121, 189854175], [189854821, 189854875], [189855032, 189855086], [189855729, 189855783], [189856212, 189856257], [189856394, 189856448], [189856909, 189856954], [189857612, 189857666], [189858086, 189858185], [189858763, 189858808], [189858959, 189859058], [189859266, 189859320], [189859449, 189859557], [189859771, 189859825], [189860417, 189860516], [189860850, 189860904], [189861123, 189861222], [189861890, 189861944], [189862061, 189862115], [189862425, 189862479], [189862991, 189863045], [189863399, 189863444], [189864010, 189864109], [189864195, 189864303], [189864567, 189864621], [189866122, 189866176], [189866261, 189866315], [189867023, 189867077], [189867680, 189867788], [189868136, 189868190], [189868459, 189868513], [189868707, 189868869], [189868982, 189869090], [189870075, 189870183], [189870931, 189870985], [189871070, 189871178], [189871662, 189871716], [189872225, 189872333], [189872610, 189872664], [189872760, 189872868], [189873649, 189873947], [189874903, 189875091], [189875373, 189875616], [189876353, 189877472]] [[189839215, 189839294], [189849485, 189849688], [189849922, 189849973], [189850390, 189850504], [189851784, 189851865], [189852806, 189852860], [189853315, 189853369], [189854121, 189854175], [189854821, 189854875], [189855032, 189855086], [189855729, 189855783], [189856212, 189856257], [189856394, 189856448], [189856909, 189856954], [189857612, 189857666], [189858086, 189858185], [189858763, 189858808], [189858959, 189859058], [189859266, 189859320], [189859449, 189859557], [189859771, 189859825], [189860417, 189860516], [189860850, 189860904], [189861123, 189861222], [189861890, 189861944], [189862061, 189862115], [189862425, 189862479], [189862991, 189863045], [189863399, 189863444], [189864010, 189864109], [189864195, 189864303], [189864567, 189864621], [189866122, 189866176], [189866261, 189866315], [189867023, 189867077], [189867680, 189867788], [189868136, 189868190], [189868459, 189868513], [189868707, 189868869], [189868982, 189869090], [189870075, 189870183], [189870931, 189870985], [189871070, 189871178], [189871662, 189871716], [189872225, 189872333], [189872610, 189872664], [189872760, 189872868], [189873649, 189873947], [189874903, 189875091], [189875373, 189875616], [189876353, 189876500]]
ENST00000317840 [[189839098, 189839294], [189849485, 189849688], [189849922, 189849973], [189850390, 189850504], [189851784, 189851865], [189852806, 189852860], [189853315, 189853369], [189854121, 189854175], [189854821, 189854875], [189855032, 189855086], [189855729, 189855783], [189856212, 189856257], [189856394, 189856448], [189856909, 189856954], [189857612, 189857666], [189858086, 189858185], [189858763, 189858808], [189858959, 189859058], [189859266, 189859320], [189859449, 189859557], [189859771, 189859825], [189860417, 189860516], [189860850, 189860904], [189861123, 189861222], [189861890, 189861944], [189862061, 189862115], [189862425, 189862479], [189862991, 189863045], [189863399, 189863444], [189864010, 189864109], [189864195, 189864303], [189864567, 189864621], [189866122, 189866176], [189866261, 189866315], [189867023, 189867077], [189867680, 189867755], [189870350, 189870355], [189872777, 189872868], [189873649, 189873947], [189874903, 189875091], [189875373, 189875616], [189876353, 189877472]] [[189839215, 189839294], [189849485, 189849688], [189849922, 189849973], [189850390, 189850504], [189851784, 189851865], [189852806, 189852860], [189853315, 189853369], [189854121, 189854175], [189854821, 189854875], [189855032, 189855086], [189855729, 189855783], [189856212, 189856257], [189856394, 189856448], [189856909, 189856954], [189857612, 189857666], [189858086, 189858185], [189858763, 189858808], [189858959, 189859058], [189859266, 189859320], [189859449, 189859557], [189859771, 189859825], [189860417, 189860516], [189860850, 189860904], [189861123, 189861222], [189861890, 189861944], [189862061, 189862115], [189862425, 189862479], [189862991, 189863045], [189863399, 189863444], [189864010, 189864109], [189864195, 189864303], [189864567, 189864621], [189866122, 189866176], [189866261, 189866315], [189867023, 189867077], [189867680, 189867755], [189870350, 189870355], [189872777, 189872868], [189873649, 189873947], [189874903, 189875091], [189875373, 189875616], [189876353, 189876500]]
ENST00000470167 [[189839119, 189839294], [189849485, 189849938]] None
ENST00000450867 [[189856399, 189856448], [189856909, 189856954], [189857612, 189857666], [189858763, 189858808], [189858959, 189859034]] [[189856399, 189856448], [189856909, 189856954], [189857612, 189857666], [189858763, 189858808], [189858959, 189859034]]
ENST00000467886 [[189868148, 189868190], [189868459, 189868643]] None
ENST00000487010 [[189873027, 189873947], [189874903, 189875616], [189876353, 189876774]] None
NM_000090 [[189839098, 189839294], [189849485, 189849688], [189849922, 189849973], [189850390, 189850504], [189851784, 189851865], [189852806, 189852860], [189853315, 189853369], [189854121, 189854175], [189854821, 189854875], [189855032, 189855086], [189855729, 189855783], [189856212, 189856257], [189856394, 189856448], [189856909, 189856954], [189857612, 189857666], [189858086, 189858185], [189858763, 189858808], [189858959, 189859058], [189859266, 189859320], [189859449, 189859557], [189859771, 189859825], [189860417, 189860516], [189860850, 189860904], [189861123, 189861222], [189861890, 189861944], [189862061, 189862115], [189862425, 189862479], [189862991, 189863045], [189863399, 189863444], [189864010, 189864109], [189864195, 189864303], [189864567, 189864621], [189866122, 189866176], [189866261, 189866315], [189867023, 189867077], [189867680, 189867788], [189868136, 189868190], [189868459, 189868513], [189868707, 189868869], [189868982, 189869090], [189870075, 189870183], [189870931, 189870985], [189871070, 189871178], [189871662, 189871716], [189872225, 189872333], [189872610, 189872664], [189872760, 189872868], [189873649, 189873947], [189874903, 189875091], [189875373, 189875616], [189876353, 189877472]] [[189839215, 189839294], [189849485, 189849688], [189849922, 189849973], [189850390, 189850504], [189851784, 189851865], [189852806, 189852860], [189853315, 189853369], [189854121, 189854175], [189854821, 189854875], [189855032, 189855086], [189855729, 189855783], [189856212, 189856257], [189856394, 189856448], [189856909, 189856954], [189857612, 189857666], [189858086, 189858185], [189858763, 189858808], [189858959, 189859058], [189859266, 189859320], [189859449, 189859557], [189859771, 189859825], [189860417, 189860516], [189860850, 189860904], [189861123, 189861222], [189861890, 189861944], [189862061, 189862115], [189862425, 189862479], [189862991, 189863045], [189863399, 189863444], [189864010, 189864109], [189864195, 189864303], [189864567, 189864621], [189866122, 189866176], [189866261, 189866315], [189867023, 189867077], [189867680, 189867788], [189868136, 189868190], [189868459, 189868513], [189868707, 189868869], [189868982, 189869090], [189870075, 189870183], [189870931, 189870985], [189871070, 189871178], [189871662, 189871716], [189872225, 189872333], [189872610, 189872664], [189872760, 189872868], [189873649, 189873947], [189874903, 189875091], [189875373, 189875616], [189876353, 189876500]]
Promoter
Chrom Start End Description
chr2 189839090 189839105 CAGE_peak_1_at_COL3A1_5end
chr2 189851773 189851845 CAGE_peak_4_at_COL3A1_5end
chr2 189869053 189869071 CAGE_peak_19_at_COL3A1_5end
chr2 189872602 189872638 CAGE_peak_14_at_COL3A1_5end
chr2 189873664 189873737 CAGE_peak_2_at_COL3A1_5end
chr2 189873740 189873791 CAGE_peak_3_at_COL3A1_5end
chr2 189873796 189873815 CAGE_peak_12_at_COL3A1_5end
chr2 189873877 189873903 CAGE_peak_10_at_COL3A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr2 GH02I188852 188852150 188854484 0.43 [{'connected_gene': 'GULP1', 'score': 7.42}, {'connected_gene': 'DIRC1', 'score': 7.32}, {'connected_gene': 'ENSG00000223523', 'score': 0.39}, {'connected_gene': 'COL3A1', 'score': 0.13}]
chr2 GH02I188965 188965670 188967244 0.4 [{'connected_gene': 'COL3A1', 'score': 0.44}, {'connected_gene': 'LOC105373791', 'score': 0.37}, {'connected_gene': 'ENSG00000223523', 'score': 0.13}]
chr2 GH02I189160 189160563 189160723 0.45 [{'connected_gene': 'COL3A1', 'score': 3.04}, {'connected_gene': 'GC02M189180', 'score': 0.37}, {'connected_gene': 'GC02M189179', 'score': 0.37}, {'connected_gene': 'MIR3129', 'score': 0.31}, {'connected_gene': 'COL5A2', 'score': 0.21}]
chr2 GH02I188937 188937375 188937524 0.2 [{'connected_gene': 'COL3A1', 'score': 0.28}, {'connected_gene': 'ENSG00000223523', 'score': 0.15}]
chr2 GH02I188938 188937915 188938064 0.2 [{'connected_gene': 'COL3A1', 'score': 0.28}, {'connected_gene': 'ENSG00000223523', 'score': 0.15}]
chr2 GH02I188940 188940116 188940680 0.2 [{'connected_gene': 'COL3A1', 'score': 0.29}, {'connected_gene': 'ENSG00000223523', 'score': 0.15}]
chr2 GH02I188785 188785055 188789284 0.97 [{'connected_gene': 'DIRC1', 'score': 12.68}, {'connected_gene': 'COL3A1', 'score': 4.56}, {'connected_gene': 'ENSG00000223523', 'score': 0.23}, {'connected_gene': 'LOC105373790', 'score': 0.13}]
chr2 GH02I188285 188285154 188286025 0.46 [{'connected_gene': 'DIRC1', 'score': 6.21}, {'connected_gene': 'COL3A1', 'score': 4.83}, {'connected_gene': 'RNA5SP114', 'score': 0.44}, {'connected_gene': 'GULP1', 'score': 0.44}, {'connected_gene': 'GC02M188277', 'score': 0.44}, {'connected_gene': 'LINC01090', 'score': 0.15}]
chr2 GH02I188969 188969109 188987299 2.24 [{'connected_gene': 'MIR1245B', 'score': 550.77}, {'connected_gene': 'COL3A1', 'score': 550.77}, {'connected_gene': 'MIR1245A', 'score': 550.77}, {'connected_gene': 'ENSG00000273240', 'score': 4.06}, {'connected_gene': 'LOC105373791', 'score': 0.44}]
chr2 GH02I188995 188995617 188997797 0.49 [{'connected_gene': 'MIR3606', 'score': 550.77}, {'connected_gene': 'COL3A1', 'score': 0.34}, {'connected_gene': 'ENSG00000228073', 'score': 0.15}]
chr2 GH02I189002 189002044 189003609 0.57 [{'connected_gene': 'MIR1245A', 'score': 11.01}, {'connected_gene': 'MIR3606', 'score': 0.44}, {'connected_gene': 'COL3A1', 'score': 0.31}, {'connected_gene': 'ENSG00000228073', 'score': 0.16}]
chr2 GH02I189175 189175610 189181047 1.64 [{'connected_gene': 'GC02M189180', 'score': 550.77}, {'connected_gene': 'GC02M189179', 'score': 550.77}, {'connected_gene': 'WDR75', 'score': 10.18}, {'connected_gene': 'LOC100420666', 'score': 9.09}, {'connected_gene': 'COL5A2', 'score': 7.76}, {'connected_gene': 'COL3A1', 'score': 5.72}, {'connected_gene': 'DIRC1', 'score': 2.33}, {'connected_gene': 'MIR3129', 'score': 0.25}]
chr2 GH02I189090 189090817 189099120 1.39 [{'connected_gene': 'ENSG00000228073', 'score': 550.77}, {'connected_gene': 'COL5A2', 'score': 9.62}, {'connected_gene': 'WDR75', 'score': 9.59}, {'connected_gene': 'COL3A1', 'score': 3.07}, {'connected_gene': 'MIR3606', 'score': 0.15}]
chr2 GH02I188891 188891538 188894728 0.38 [{'connected_gene': 'ENSG00000223523', 'score': 0.23}, {'connected_gene': 'COL3A1', 'score': 0.18}]
chr2 GH02I188870 188870305 188870558 0.31 [{'connected_gene': 'ENSG00000223523', 'score': 0.29}, {'connected_gene': 'COL3A1', 'score': 0.15}]
chr2 GH02I188898 188898375 188898524 0.2 [{'connected_gene': 'ENSG00000223523', 'score': 0.22}, {'connected_gene': 'COL3A1', 'score': 0.18}]
chr2 GH02I188897 188897096 188898001 0.51 [{'connected_gene': 'ENSG00000223523', 'score': 0.22}, {'connected_gene': 'COL3A1', 'score': 0.18}]
chr2 GH02I188869 188869675 188869824 0.38 [{'connected_gene': 'ENSG00000223523', 'score': 0.29}, {'connected_gene': 'COL3A1', 'score': 0.15}]
chr2 GH02I188902 188902457 188903458 0.31 [{'connected_gene': 'ENSG00000223523', 'score': 0.21}, {'connected_gene': 'COL3A1', 'score': 0.19}]

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