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
ENST00000377280 [[49557530, 49557862], [49558097, 49558265], [49558617, 49558997]] [[49557547, 49557862], [49558097, 49558265], [49558617, 49558632]]
ENST00000596965 [[49557531, 49557862], [49558097, 49558265], [49558617, 49559852], [49560377, 49560505], [49560921, 49561008]] [[49557547, 49557862], [49558097, 49558265], [49558617, 49558632]]
ENST00000597853 [[49557531, 49557862], [49558097, 49558265], [49558617, 49559852], [49560377, 49561314], [49561402, 49562117]] [[49557547, 49557862], [49558097, 49558265], [49558617, 49558632]]
ENST00000356213 [[49557531, 49557862], [49558097, 49558265], [49558617, 49559852], [49560377, 49561314], [49561402, 49562117]] [[49557547, 49557862], [49558097, 49558265], [49558617, 49558626]]
ENST00000593309 [[49559344, 49559852], [49560377, 49560505], [49560718, 49561002]] None
ENST00000598442 [[49561114, 49561314], [49561402, 49561603], [49561868, 49562018]] None
NM_033142 [[49557530, 49557862], [49558097, 49558265], [49558617, 49558997]] [[49557547, 49557862], [49558097, 49558265], [49558617, 49558632]]
Promoter
Chrom Start End Description
chr19 49560987 49561011 CAGE_peak_2_at_CGB7_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr19 GH19I049055 49055468 49057893 1.85 [{'connected_gene': 'CGB7', 'score': 550.77}, {'connected_gene': 'CGB8', 'score': 53.68}, {'connected_gene': 'NTF4', 'score': 9.62}, {'connected_gene': 'ENSG00000283251', 'score': 0.77}, {'connected_gene': 'ENSG00000283663', 'score': 0.44}, {'connected_gene': 'LOC100287489', 'score': 0.44}]
chr19 GH19I049056 49055374 49055433 0.5 [{'connected_gene': 'CGB7', 'score': 550.77}, {'connected_gene': 'CGB8', 'score': 39.22}, {'connected_gene': 'LOC100287489', 'score': 0.77}, {'connected_gene': 'ENSG00000283251', 'score': 0.77}]
chr19 GH19I048998 48998124 48998273 0.57 [{'connected_gene': 'CGB7', 'score': 11.6}, {'connected_gene': 'NTF4', 'score': 11.6}, {'connected_gene': 'KCNA7', 'score': 11.23}, {'connected_gene': 'SNRNP70', 'score': 10.86}, {'connected_gene': 'NUCB1-AS1', 'score': 10.78}, {'connected_gene': 'NUCB1', 'score': 10.75}, {'connected_gene': 'RUVBL2', 'score': 0.77}, {'connected_gene': 'GYS1', 'score': 0.77}, {'connected_gene': 'MIR6798', 'score': 0.39}]
chr19 GH19I049142 49142251 49143383 1.52 [{'connected_gene': 'PPFIA3', 'score': 22.52}, {'connected_gene': 'C19orf73', 'score': 13.22}, {'connected_gene': 'LIN7B', 'score': 13.19}, {'connected_gene': 'SNRNP70', 'score': 12.04}, {'connected_gene': 'NTF4', 'score': 11.55}, {'connected_gene': 'CGB7', 'score': 11.54}, {'connected_gene': 'KCNA7', 'score': 11.5}, {'connected_gene': 'SLC6A16', 'score': 10.51}, {'connected_gene': 'CD37', 'score': 10.5}, {'connected_gene': 'CCDC155', 'score': 10.07}, {'connected_gene': 'NUCB1', 'score': 9.63}, {'connected_gene': 'TULP2', 'score': 9.6}, {'connected_gene': 'NUCB1-AS1', 'score': 4.48}, {'connected_gene': 'HRC', 'score': 0.39}]
chr19 GH19I049145 49145590 49147173 1.38 [{'connected_gene': 'SNRNP70', 'score': 32.24}, {'connected_gene': 'PPFIA3', 'score': 29.55}, {'connected_gene': 'PRR12', 'score': 24.14}, {'connected_gene': 'C19orf73', 'score': 12.66}, {'connected_gene': 'LIN7B', 'score': 12.64}, {'connected_gene': 'KCNA7', 'score': 11.57}, {'connected_gene': 'NTF4', 'score': 11.5}, {'connected_gene': 'CGB7', 'score': 11.49}, {'connected_gene': 'CD37', 'score': 10.51}, {'connected_gene': 'SLC6A16', 'score': 10.51}, {'connected_gene': 'NUP62', 'score': 10.4}, {'connected_gene': 'PRMT1', 'score': 10.25}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'PIH1D1', 'score': 9.77}, {'connected_gene': 'RASIP1', 'score': 9.71}, {'connected_gene': 'CARD8', 'score': 4.89}, {'connected_gene': 'HRC', 'score': 0.44}]
chr19 GH19I049210 49210004 49211721 1.05 [{'connected_gene': 'SNRNP70', 'score': 11.81}, {'connected_gene': 'C19orf73', 'score': 11.51}, {'connected_gene': 'PPFIA3', 'score': 11.51}, {'connected_gene': 'LIN7B', 'score': 11.5}, {'connected_gene': 'NTF4', 'score': 11.28}, {'connected_gene': 'CGB7', 'score': 11.28}, {'connected_gene': 'CD37', 'score': 11.2}, {'connected_gene': 'SLC6A16', 'score': 11.2}, {'connected_gene': 'KCNA7', 'score': 10.89}, {'connected_gene': 'CCDC155', 'score': 10.8}, {'connected_gene': 'SLC17A7', 'score': 10.7}, {'connected_gene': 'LOC101928295', 'score': 4.41}, {'connected_gene': 'SLC6A21P', 'score': 0.25}, {'connected_gene': 'TRPM4', 'score': 0.23}]
chr19 GH19I049198 49198600 49199296 0.99 [{'connected_gene': 'SNRNP70', 'score': 11.67}, {'connected_gene': 'KCNA7', 'score': 11.55}, {'connected_gene': 'C19orf73', 'score': 11.39}, {'connected_gene': 'PPFIA3', 'score': 11.39}, {'connected_gene': 'LIN7B', 'score': 11.38}, {'connected_gene': 'NTF4', 'score': 11.36}, {'connected_gene': 'CGB7', 'score': 11.35}, {'connected_gene': 'SLC17A7', 'score': 10.51}, {'connected_gene': 'ZNF473', 'score': 4.97}, {'connected_gene': 'TRPM4', 'score': 0.26}, {'connected_gene': 'SLC6A21P', 'score': 0.22}]
chr19 GH19I049207 49207630 49209033 1.34 [{'connected_gene': 'SNRNP70', 'score': 24.19}, {'connected_gene': 'PPP1R15A', 'score': 14.86}, {'connected_gene': 'PRR12', 'score': 13.31}, {'connected_gene': 'CD37', 'score': 12.73}, {'connected_gene': 'C19orf73', 'score': 11.51}, {'connected_gene': 'PPFIA3', 'score': 11.51}, {'connected_gene': 'LIN7B', 'score': 11.51}, {'connected_gene': 'CGB7', 'score': 11.28}, {'connected_gene': 'NTF4', 'score': 11.28}, {'connected_gene': 'SLC6A16', 'score': 11.2}, {'connected_gene': 'KCNA7', 'score': 10.89}, {'connected_gene': 'CCDC155', 'score': 10.8}, {'connected_gene': 'SLC17A7', 'score': 10.7}, {'connected_gene': 'GRWD1', 'score': 10.09}, {'connected_gene': 'PIH1D1', 'score': 9.78}, {'connected_gene': 'RASIP1', 'score': 9.7}, {'connected_gene': 'IZUMO1', 'score': 3.62}, {'connected_gene': 'FCGRT', 'score': 2.38}, {'connected_gene': 'RPS11', 'score': 1.47}, {'connected_gene': 'SLC6A21P', 'score': 0.25}, {'connected_gene': 'TRPM4', 'score': 0.23}]
chr19 GH19I049113 49113404 49115554 2.02 [{'connected_gene': 'LIN7B', 'score': 563.37}, {'connected_gene': 'CGB8', 'score': 13.41}, {'connected_gene': 'SNRNP70', 'score': 12.7}, {'connected_gene': 'NTF4', 'score': 11.95}, {'connected_gene': 'CGB7', 'score': 11.93}, {'connected_gene': 'KCNA7', 'score': 11.59}, {'connected_gene': 'C19orf73', 'score': 0.77}]
chr19 GH19I049135 49135719 49137277 1.16 [{'connected_gene': 'LIN7B', 'score': 13.22}, {'connected_gene': 'SNRNP70', 'score': 12.05}, {'connected_gene': 'PPFIA3', 'score': 11.99}, {'connected_gene': 'NTF4', 'score': 11.56}, {'connected_gene': 'CGB7', 'score': 11.55}, {'connected_gene': 'KCNA7', 'score': 11.51}, {'connected_gene': 'CCDC155', 'score': 10.07}, {'connected_gene': 'NUCB1', 'score': 9.57}, {'connected_gene': 'TULP2', 'score': 9.25}, {'connected_gene': 'HRC', 'score': 0.37}]
chr19 GH19I048768 48768506 48775260 1.35 [{'connected_gene': 'SCAF1', 'score': 20.15}, {'connected_gene': 'FUT2', 'score': 19.57}, {'connected_gene': 'IZUMO1', 'score': 12.73}, {'connected_gene': 'RASIP1', 'score': 12.69}, {'connected_gene': 'BCAT2', 'score': 11.98}, {'connected_gene': 'DKKL1', 'score': 11.84}, {'connected_gene': 'MAMSTR', 'score': 11.75}, {'connected_gene': 'DBP', 'score': 11.46}, {'connected_gene': 'SEC1P', 'score': 11.46}, {'connected_gene': 'TULP2', 'score': 11.23}, {'connected_gene': 'NUCB1', 'score': 10.93}, {'connected_gene': 'KCNA7', 'score': 10.82}, {'connected_gene': 'PRR12', 'score': 10.68}, {'connected_gene': 'CGB7', 'score': 10.09}, {'connected_gene': 'NTF4', 'score': 10.09}, {'connected_gene': 'NTN5', 'score': 8.0}, {'connected_gene': 'GC19P048785', 'score': 0.39}, {'connected_gene': 'FGF21', 'score': 0.37}]
chr19 GH19I048844 48844544 48844733 0.66 [{'connected_gene': 'PLEKHA4', 'score': 12.18}, {'connected_gene': 'PPP1R15A', 'score': 12.15}, {'connected_gene': 'TULP2', 'score': 12.06}, {'connected_gene': 'BCAT2', 'score': 11.86}, {'connected_gene': 'NUCB1', 'score': 11.16}, {'connected_gene': 'NUCB1-AS1', 'score': 11.13}, {'connected_gene': 'CGB7', 'score': 10.0}, {'connected_gene': 'NTF4', 'score': 10.0}, {'connected_gene': 'GC19P048839', 'score': 0.44}, {'connected_gene': 'GC19P048838', 'score': 0.44}]
chr19 GH19I048794 48794471 48797196 1.46 [{'connected_gene': 'RASIP1', 'score': 21.15}, {'connected_gene': 'NUCB1-AS1', 'score': 15.12}, {'connected_gene': 'PRR12', 'score': 13.29}, {'connected_gene': 'SNRNP70', 'score': 12.44}, {'connected_gene': 'IZUMO1', 'score': 11.52}, {'connected_gene': 'TULP2', 'score': 11.23}, {'connected_gene': 'MAMSTR', 'score': 11.21}, {'connected_gene': 'FUT2', 'score': 11.18}, {'connected_gene': 'NUCB1', 'score': 10.84}, {'connected_gene': 'CGB7', 'score': 10.15}, {'connected_gene': 'NTF4', 'score': 10.15}, {'connected_gene': 'GRWD1', 'score': 10.12}, {'connected_gene': 'PIH1D1', 'score': 9.74}, {'connected_gene': 'GC19M048794', 'score': 0.77}, {'connected_gene': 'RNU6-317P', 'score': 0.77}, {'connected_gene': 'LOC105372432', 'score': 0.39}, {'connected_gene': 'BCAT2', 'score': 0.37}]
chr19 GH19I049038 49038724 49038873 0.65 [{'connected_gene': 'NTF6B', 'score': 550.77}, {'connected_gene': 'SNAR-G1', 'score': 550.77}, {'connected_gene': 'CGB1', 'score': 550.77}, {'connected_gene': 'ENSG00000267335', 'score': 550.77}, {'connected_gene': 'CGB7', 'score': 17.75}, {'connected_gene': 'NTF4', 'score': 12.47}, {'connected_gene': 'RUVBL2', 'score': 4.91}]
chr19 GH19I049017 49017080 49017139 0.68 [{'connected_gene': 'LHB', 'score': 550.77}, {'connected_gene': 'LOC101059948', 'score': 18.7}, {'connected_gene': 'RUVBL2', 'score': 12.88}, {'connected_gene': 'GYS1', 'score': 12.88}, {'connected_gene': 'CGB7', 'score': 11.3}, {'connected_gene': 'NTF4', 'score': 11.29}]
chr19 GH19I048999 48999152 49000493 0.7 [{'connected_gene': 'RUVBL2', 'score': 11.91}, {'connected_gene': 'CGB7', 'score': 11.62}, {'connected_gene': 'NTF4', 'score': 11.6}, {'connected_gene': 'KCNA7', 'score': 11.23}, {'connected_gene': 'SNRNP70', 'score': 10.86}, {'connected_gene': 'NUCB1-AS1', 'score': 10.77}, {'connected_gene': 'NUCB1', 'score': 10.75}, {'connected_gene': 'GYS1', 'score': 0.44}, {'connected_gene': 'MIR6798', 'score': 0.39}]
chr19 GH19I048988 48988467 48995639 2.38 [{'connected_gene': 'RUVBL2', 'score': 571.6}, {'connected_gene': 'GYS1', 'score': 550.77}, {'connected_gene': 'NUP62', 'score': 59.62}, {'connected_gene': 'GRWD1', 'score': 40.79}, {'connected_gene': 'PTOV1-AS2', 'score': 29.07}, {'connected_gene': 'SNORD35A', 'score': 27.92}, {'connected_gene': 'ENSG00000268047', 'score': 26.92}, {'connected_gene': 'IRF3', 'score': 26.74}, {'connected_gene': 'SNORD35B', 'score': 26.55}, {'connected_gene': 'SNRNP70', 'score': 25.85}, {'connected_gene': 'ALDH16A1', 'score': 24.27}, {'connected_gene': 'PIH1D1', 'score': 21.58}, {'connected_gene': 'KDELR1', 'score': 21.42}, {'connected_gene': 'PNKP', 'score': 21.29}, {'connected_gene': 'PRR12', 'score': 20.52}, {'connected_gene': 'AKT1S1', 'score': 19.29}, {'connected_gene': 'LOC101059948', 'score': 16.3}, {'connected_gene': 'TSKS', 'score': 14.52}, {'connected_gene': 'RPS11', 'score': 13.45}, {'connected_gene': 'TRPM4', 'score': 13.13}, {'connected_gene': 'RPL18', 'score': 12.88}, {'connected_gene': 'RPL13A', 'score': 12.86}, {'connected_gene': 'NUCB1', 'score': 12.41}, {'connected_gene': 'CYTH2', 'score': 12.11}, {'connected_gene': 'FTL', 'score': 11.97}, {'connected_gene': 'CGB7', 'score': 11.6}, {'connected_gene': 'NTF4', 'score': 11.59}, {'connected_gene': 'TULP2', 'score': 11.4}, {'connected_gene': 'NOSIP', 'score': 11.36}, {'connected_gene': 'KCNA7', 'score': 11.33}, {'connected_gene': 'NUCB1-AS1', 'score': 10.99}, {'connected_gene': 'DKKL1', 'score': 10.86}, {'connected_gene': 'PRMT1', 'score': 10.45}, {'connected_gene': 'SLC6A16', 'score': 10.11}, {'connected_gene': 'ADM5', 'score': 9.87}, {'connected_gene': 'BCAT2', 'score': 2.36}, {'connected_gene': 'SPHK2', 'score': 1.35}, {'connected_gene': 'GC19P048967', 'score': 0.31}, {'connected_gene': 'GC19P048966', 'score': 0.31}]
chr19 GH19I049018 49017226 49019873 1.59 [{'connected_gene': 'LOC101059948', 'score': 568.01}, {'connected_gene': 'LHB', 'score': 550.77}, {'connected_gene': 'RUVBL2', 'score': 23.48}, {'connected_gene': 'CGB3', 'score': 16.57}, {'connected_gene': 'GYS1', 'score': 12.85}, {'connected_gene': 'CGB7', 'score': 11.3}, {'connected_gene': 'NTF4', 'score': 11.29}]
chr19 GH19I049021 49020504 49020613 0.46 [{'connected_gene': 'LOC101059948', 'score': 550.77}, {'connected_gene': 'RUVBL2', 'score': 12.85}, {'connected_gene': 'GYS1', 'score': 12.85}, {'connected_gene': 'CGB7', 'score': 11.32}, {'connected_gene': 'NTF4', 'score': 11.3}, {'connected_gene': 'CGB3', 'score': 0.77}]
chr19 GH19I049012 49012960 49015163 0.72 [{'connected_gene': 'LOC101059948', 'score': 19.04}, {'connected_gene': 'CGB3', 'score': 17.49}, {'connected_gene': 'CGB7', 'score': 11.84}, {'connected_gene': 'NTF4', 'score': 11.81}, {'connected_gene': 'KCNA7', 'score': 11.75}, {'connected_gene': 'LIN7B', 'score': 10.88}, {'connected_gene': 'C19orf73', 'score': 10.87}, {'connected_gene': 'PPFIA3', 'score': 10.87}, {'connected_gene': 'RUVBL2', 'score': 10.72}, {'connected_gene': 'NUCB1', 'score': 10.38}, {'connected_gene': 'TULP2', 'score': 10.18}, {'connected_gene': 'LHB', 'score': 0.77}, {'connected_gene': 'MIR6798', 'score': 0.77}]
chr19 GH19I049020 49020926 49021211 0.71 [{'connected_gene': 'LOC101059948', 'score': 550.77}, {'connected_gene': 'CGB3', 'score': 13.49}, {'connected_gene': 'RUVBL2', 'score': 12.85}, {'connected_gene': 'GYS1', 'score': 12.85}, {'connected_gene': 'CGB7', 'score': 11.32}, {'connected_gene': 'NTF4', 'score': 11.3}, {'connected_gene': 'CGB5', 'score': 6.08}]
chr19 GH19I048977 48977678 48980614 1.58 [{'connected_gene': 'NUCB1-AS1', 'score': 11.41}, {'connected_gene': 'NUCB1', 'score': 11.38}, {'connected_gene': 'KCNA7', 'score': 10.97}, {'connected_gene': 'TULP2', 'score': 10.95}, {'connected_gene': 'CGB7', 'score': 10.79}, {'connected_gene': 'NTF4', 'score': 10.77}, {'connected_gene': 'C19orf73', 'score': 7.16}, {'connected_gene': 'FUT1', 'score': 3.1}, {'connected_gene': 'RUVBL2', 'score': 0.39}, {'connected_gene': 'GC19P048966', 'score': 0.39}, {'connected_gene': 'GC19P048967', 'score': 0.39}, {'connected_gene': 'GYS1', 'score': 0.39}]
chr19 GH19I049036 49036792 49036851 1.08 [{'connected_gene': 'SNAR-G1', 'score': 550.77}, {'connected_gene': 'CGB1', 'score': 550.77}, {'connected_gene': 'ENSG00000267335', 'score': 550.77}, {'connected_gene': 'CGB7', 'score': 12.5}, {'connected_gene': 'NTF4', 'score': 12.47}, {'connected_gene': 'LOC101059948', 'score': 12.09}, {'connected_gene': 'CGB2', 'score': 0.77}]
chr19 GH19I049106 49106550 49107179 0.83 [{'connected_gene': 'GC19P049111', 'score': 550.77}, {'connected_gene': 'GC19P049109', 'score': 550.77}, {'connected_gene': 'GC19P049108', 'score': 550.77}, {'connected_gene': 'SNRNP70', 'score': 19.92}, {'connected_gene': 'CGB8', 'score': 13.05}, {'connected_gene': 'KCNA7', 'score': 12.39}, {'connected_gene': 'NTF4', 'score': 11.97}, {'connected_gene': 'CGB7', 'score': 11.95}]

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