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
ENST00000318596 [[19174807, 19174924], [19206899, 19207014], [19212589, 19212695], [19215721, 19215747], [19216369, 19216536], [19217077, 19217194], [19218702, 19218854], [19221377, 19223697]] [[19206933, 19207014], [19212589, 19212695], [19215721, 19215747], [19216369, 19216536], [19217077, 19217194], [19218702, 19218854], [19221377, 19221685]]
ENST00000597661 [[19174826, 19174855], [19206899, 19207014], [19215721, 19215747], [19216369, 19216536], [19217077, 19217259]] None
ENST00000594070 [[19206751, 19207014], [19212589, 19212695], [19215721, 19215747], [19216369, 19216536], [19217077, 19217743]] None
ENST00000600275 [[19212589, 19212695], [19217077, 19217194], [19218702, 19218797]] None
ENST00000600251 [[19212603, 19212695], [19215721, 19216043]] None
ENST00000596819 [[19216671, 19217194], [19218702, 19218854], [19221377, 19221455]] None
NM_001321544 [[19174769, 19174855], [19206899, 19207014], [19212589, 19212695], [19215721, 19215747], [19216369, 19216536], [19217077, 19217194], [19218702, 19218854], [19221377, 19223839]] [[19206933, 19207014], [19212589, 19212695], [19215721, 19215747], [19216369, 19216536], [19217077, 19217194], [19218702, 19218854], [19221377, 19221685]]
NM_178526 [[19174802, 19174924], [19206899, 19207014], [19212589, 19212695], [19215721, 19215747], [19216369, 19216536], [19217077, 19217194], [19218702, 19218854], [19221377, 19223839]] [[19206933, 19207014], [19212589, 19212695], [19215721, 19215747], [19216369, 19216536], [19217077, 19217194], [19218702, 19218854], [19221377, 19221685]]
Promoter
Chrom Start End Description
chr19 19174795 19174833 CAGE_peak_1_at_SLC25A42_5end
chr19 19206747 19206758 CAGE_peak_4_at_SLC25A42_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I019031 19031842 19034910 2.35 [{'connected_gene': 'ARMC6', 'score': 553.37}, {'connected_gene': 'SUGP2', 'score': 552.67}, {'connected_gene': 'ATP13A1', 'score': 27.04}, {'connected_gene': 'TMEM161A', 'score': 26.67}, {'connected_gene': 'MEF2B', 'score': 20.44}, {'connected_gene': 'ENSG00000268030', 'score': 18.92}, {'connected_gene': 'NR2C2AP', 'score': 15.07}, {'connected_gene': 'ENSG00000268938', 'score': 13.86}, {'connected_gene': 'UPF1', 'score': 13.82}, {'connected_gene': 'ENSG00000269191', 'score': 12.52}, {'connected_gene': 'ENSG00000267481', 'score': 12.31}, {'connected_gene': 'MAU2', 'score': 11.93}, {'connected_gene': 'IQCN', 'score': 10.23}, {'connected_gene': 'RFXANK', 'score': 10.17}, {'connected_gene': 'BORCS8', 'score': 10.17}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.17}, {'connected_gene': 'SLC25A42', 'score': 8.83}, {'connected_gene': 'SUGP1', 'score': 1.99}, {'connected_gene': 'DDX49', 'score': 1.95}, {'connected_gene': 'GC19M018978', 'score': 0.23}]
chr19 GH19I019104 19104446 19106641 1.36 [{'connected_gene': 'TMEM161A', 'score': 19.49}, {'connected_gene': 'ARMC6', 'score': 7.79}, {'connected_gene': 'GC19P020250', 'score': 0.77}, {'connected_gene': 'SLC25A42', 'score': 0.26}]
chr19 GH19I019066 19066792 19068210 0.31 [{'connected_gene': 'TMEM161A', 'score': 21.15}, {'connected_gene': 'HAPLN4', 'score': 10.19}, {'connected_gene': 'SUGP2', 'score': 4.59}, {'connected_gene': 'SLC25A42', 'score': 0.77}, {'connected_gene': 'GC19P020250', 'score': 0.26}]
chr19 GH19I019112 19112875 19113541 0.77 [{'connected_gene': 'TMEM161A', 'score': 22.46}, {'connected_gene': 'SLC25A42', 'score': 12.43}, {'connected_gene': 'SUGP2', 'score': 12.03}, {'connected_gene': 'ARMC6', 'score': 12.03}, {'connected_gene': 'MEF2B', 'score': 11.82}, {'connected_gene': 'RFXANK', 'score': 11.78}, {'connected_gene': 'BORCS8', 'score': 11.78}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.78}, {'connected_gene': 'HAPLN4', 'score': 10.82}, {'connected_gene': 'GC19P020250', 'score': 0.44}, {'connected_gene': 'GC19M019131', 'score': 0.34}]
chr19 GH19I019110 19110401 19111000 0.52 [{'connected_gene': 'TMEM161A', 'score': 13.14}, {'connected_gene': 'SLC25A42', 'score': 12.43}, {'connected_gene': 'SUGP2', 'score': 12.03}, {'connected_gene': 'ARMC6', 'score': 12.03}, {'connected_gene': 'MEF2B', 'score': 11.82}, {'connected_gene': 'RFXANK', 'score': 11.77}, {'connected_gene': 'BORCS8-MEF2B', 'score': 11.77}, {'connected_gene': 'BORCS8', 'score': 11.77}, {'connected_gene': 'HAPLN4', 'score': 10.82}, {'connected_gene': 'GC19P020250', 'score': 0.77}, {'connected_gene': 'GC19M019131', 'score': 0.34}]
chr19 GH19I019039 19039120 19041227 0.96 [{'connected_gene': 'TMEM161A', 'score': 29.03}, {'connected_gene': 'SLC25A42', 'score': 12.81}, {'connected_gene': 'MEF2B', 'score': 10.58}, {'connected_gene': 'RFXANK', 'score': 10.57}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.57}, {'connected_gene': 'BORCS8', 'score': 10.57}, {'connected_gene': 'HOMER3', 'score': 10.51}, {'connected_gene': 'HAPLN4', 'score': 10.31}, {'connected_gene': 'ARMC6', 'score': 5.7}, {'connected_gene': 'SUGP2', 'score': 4.73}, {'connected_gene': 'GC19M019046', 'score': 0.44}]
chr19 GH19I018966 18966372 18973477 1.41 [{'connected_gene': 'GATAD2A', 'score': 14.85}, {'connected_gene': 'SUGP2', 'score': 11.68}, {'connected_gene': 'TMEM161A', 'score': 9.31}, {'connected_gene': 'ATP13A1', 'score': 5.69}, {'connected_gene': 'SLC25A42', 'score': 4.29}, {'connected_gene': 'HOMER3', 'score': 2.99}, {'connected_gene': 'ELL', 'score': 1.64}, {'connected_gene': 'MAU2', 'score': 1.58}, {'connected_gene': 'RFXANK', 'score': 1.34}, {'connected_gene': 'GC19M018978', 'score': 0.44}, {'connected_gene': 'RN7SL70P', 'score': 0.39}]
chr19 GH19I019058 19058889 19066165 2.29 [{'connected_gene': 'SLC25A42', 'score': 559.3}, {'connected_gene': 'UPF1', 'score': 22.72}, {'connected_gene': 'ELL', 'score': 20.21}, {'connected_gene': 'ENSG00000268030', 'score': 17.79}, {'connected_gene': 'TMEM161A', 'score': 16.22}, {'connected_gene': 'NR2C2AP', 'score': 15.05}, {'connected_gene': 'ENSG00000268938', 'score': 13.68}, {'connected_gene': 'MAU2', 'score': 13.24}, {'connected_gene': 'ENSG00000269191', 'score': 13.23}, {'connected_gene': 'IQCN', 'score': 13.22}, {'connected_gene': 'UBA52', 'score': 10.61}, {'connected_gene': 'KXD1', 'score': 10.54}, {'connected_gene': 'MEF2B', 'score': 10.44}, {'connected_gene': 'HAPLN4', 'score': 10.19}, {'connected_gene': 'ATP13A1', 'score': 10.1}, {'connected_gene': 'SUGP2', 'score': 4.61}, {'connected_gene': 'PIR39711', 'score': 0.44}, {'connected_gene': 'ARMC6', 'score': 0.31}]
chr19 GH19I019090 19090427 19091701 0.46 [{'connected_gene': 'SLC25A42', 'score': 12.19}, {'connected_gene': 'TMEM161A', 'score': 11.12}, {'connected_gene': 'MEF2B', 'score': 10.81}, {'connected_gene': 'RFXANK', 'score': 10.78}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.78}, {'connected_gene': 'BORCS8', 'score': 10.78}, {'connected_gene': 'GC19P020250', 'score': 0.37}]
chr19 GH19I019094 19094135 19097871 0.93 [{'connected_gene': 'SLC25A42', 'score': 20.8}, {'connected_gene': 'TMEM161A', 'score': 16.37}, {'connected_gene': 'MEF2B', 'score': 10.82}, {'connected_gene': 'BORCS8', 'score': 10.78}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.78}, {'connected_gene': 'RFXANK', 'score': 10.78}, {'connected_gene': 'ARMC6', 'score': 4.99}, {'connected_gene': 'GC19P020250', 'score': 0.39}]
chr19 GH19I019078 19078700 19078759 0.68 [{'connected_gene': 'SLC25A42', 'score': 550.39}, {'connected_gene': 'GC19P020250', 'score': 0.31}]
chr19 GH19I019081 19081779 19082327 0.55 [{'connected_gene': 'SLC25A42', 'score': 0.37}, {'connected_gene': 'GC19P020250', 'score': 0.31}]
chr19 GH19I019077 19077001 19077600 0.31 [{'connected_gene': 'SLC25A42', 'score': 0.39}, {'connected_gene': 'GC19P020250', 'score': 0.29}]
chr19 GH19I018893 18893193 18896401 2.16 [{'connected_gene': 'GDF1', 'score': 590.1}, {'connected_gene': 'CERS1', 'score': 550.77}, {'connected_gene': 'TMEM59L', 'score': 8.37}, {'connected_gene': 'CRTC1', 'score': 7.81}, {'connected_gene': 'HAPLN4', 'score': 5.64}, {'connected_gene': 'HOMER3', 'score': 5.27}, {'connected_gene': 'NCAN', 'score': 4.07}, {'connected_gene': 'SUGP2', 'score': 2.99}, {'connected_gene': 'KLHL26', 'score': 2.23}, {'connected_gene': 'SLC25A42', 'score': 1.39}, {'connected_gene': 'ENSG00000269694', 'score': 0.39}, {'connected_gene': 'GC19M018886', 'score': 0.39}]
chr19 GH19I018698 18698902 18701683 1.66 [{'connected_gene': 'CRTC1', 'score': 6.36}, {'connected_gene': 'CRLF1', 'score': 6.21}, {'connected_gene': 'UBA52', 'score': 4.05}, {'connected_gene': 'FKBP8', 'score': 3.6}, {'connected_gene': 'SLC25A42', 'score': 3.33}, {'connected_gene': 'UPF1', 'score': 1.27}, {'connected_gene': 'JUND', 'score': 1.19}, {'connected_gene': 'GC19P020283', 'score': 0.44}, {'connected_gene': 'GC19M018715', 'score': 0.34}]
chr19 GH19I019042 19042783 19043607 0.2 [{'connected_gene': 'MEF2B', 'score': 10.52}, {'connected_gene': 'RFXANK', 'score': 10.51}, {'connected_gene': 'BORCS8-MEF2B', 'score': 10.51}, {'connected_gene': 'BORCS8', 'score': 10.51}, {'connected_gene': 'HOMER3', 'score': 10.5}, {'connected_gene': 'SLC25A42', 'score': 8.87}, {'connected_gene': 'TMEM161A', 'score': 6.59}, {'connected_gene': 'GC19M019046', 'score': 0.44}, {'connected_gene': 'SUGP2', 'score': 0.44}, {'connected_gene': 'ARMC6', 'score': 0.44}]
chr19 GH19I019068 19068732 19069819 0.77 [{'connected_gene': 'ENSG00000268030', 'score': 21.17}, {'connected_gene': 'UPF1', 'score': 20.03}, {'connected_gene': 'ATP13A1', 'score': 18.14}, {'connected_gene': 'ENSG00000268938', 'score': 17.66}, {'connected_gene': 'TMEM161A', 'score': 16.66}, {'connected_gene': 'NR2C2AP', 'score': 16.05}, {'connected_gene': 'ENSG00000269191', 'score': 15.08}, {'connected_gene': 'MAU2', 'score': 13.87}, {'connected_gene': 'ENSG00000267481', 'score': 11.95}, {'connected_gene': 'IQCN', 'score': 11.28}, {'connected_gene': 'MEF2B', 'score': 10.63}, {'connected_gene': 'ELL', 'score': 10.27}, {'connected_gene': 'SUGP2', 'score': 10.08}, {'connected_gene': 'SLC25A42', 'score': 0.44}, {'connected_gene': 'GC19P020250', 'score': 0.28}]
chr19 GH19I019099 19099472 19099621 0.64 [{'connected_gene': 'GC19P020250', 'score': 0.44}, {'connected_gene': 'SLC25A42', 'score': 0.28}]
chr19 GH19I019103 19103272 19103421 0.2 [{'connected_gene': 'GC19P020250', 'score': 0.77}, {'connected_gene': 'SLC25A42', 'score': 0.28}]
chr19 GH19I019098 19098192 19098361 0.31 [{'connected_gene': 'GC19P020250', 'score': 0.44}, {'connected_gene': 'SLC25A42', 'score': 0.29}]

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