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
ENST00000409134 [[125877532, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125889978, 125890085], [125891622, 125891707], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125931110]] [[125880656, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125889978, 125890085], [125891622, 125891707], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125930890]]
ENST00000447989 [[125880287, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125931028]] [[125880656, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125930971]]
ENST00000553117 [[125880287, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125931028]] [[125880656, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125930890]]
ENST00000485852 [[125880430, 125880711], [125882015, 125882091], [125885620, 125885856]] None
ENST00000497231 [[125880448, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125889978, 125890085], [125891622, 125891707], [125894931, 125895026], [125896774, 125897897]] None
ENST00000476328 [[125885583, 125885985], [125887712, 125887794]] None
ENST00000503281 [[125887712, 125887829], [125889978, 125890085], [125891622, 125891707], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125930698, 125930804]] None
ENST00000509459 [[125891698, 125891707], [125894931, 125894987], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125930698, 125930763]] None
ENST00000433026 [[125900067, 125900284], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125915738, 125915782]] None
ENST00000413020 [[125900205, 125900284], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125930910]] None
ENST00000458249 [[125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125929799, 125929959], [125930698, 125930890]] [[125929857, 125929959], [125930698, 125930890]]
ENST00000510111 [[125904015, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125928355, 125928421], [125929042, 125929096], [125930698, 125930884]] [[125904015, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125928355, 125928421], [125929042, 125929096], [125930698, 125930884]]
ENST00000511266 [[125911128, 125911156], [125912770, 125912903], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125930845]] None
ENST00000509270 [[125912875, 125912903], [125918542, 125918666], [125919623, 125919704], [125930698, 125930911]] [[125912875, 125912903], [125918542, 125918666], [125919623, 125919704], [125930698, 125930890]]
ENST00000479989 [[125919623, 125919704], [125928355, 125928421], [125929042, 125929139], [125929799, 125930131]] None
ENST00000412186 [[125919637, 125919704], [125928355, 125928421], [125929042, 125929139], [125930698, 125931054]] [[125929097, 125929139], [125930698, 125930890]]
NM_001201377 [[125877532, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125889978, 125890085], [125891622, 125891707], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125931082]] [[125880656, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125889978, 125890085], [125891622, 125891707], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125930806]]
NM_001182 [[125877532, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125889978, 125890085], [125891622, 125891707], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125931082]] [[125880656, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125889978, 125890085], [125891622, 125891707], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125930890]]
NM_001202404 [[125877532, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125931082]] [[125880656, 125880711], [125882015, 125882091], [125885620, 125885694], [125885887, 125885985], [125887712, 125887829], [125894931, 125895026], [125896774, 125896816], [125903950, 125904048], [125906473, 125906551], [125911111, 125911156], [125912770, 125912903], [125918542, 125918666], [125919623, 125919704], [125928355, 125928421], [125929042, 125929096], [125930698, 125930890]]
Promoter
Chrom Start End Description
chr5 125930877 125930919 CAGE_peak_1_at_ALDH7A1_5end
chr5 125930929 125930940 CAGE_peak_2_at_ALDH7A1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr5 GH05I126532 126531582 126532439 0.97 [{'connected_gene': 'GRAMD2B', 'score': 11.4}, {'connected_gene': 'ENSG00000250602', 'score': 10.89}, {'connected_gene': 'GC05M126556', 'score': 0.34}, {'connected_gene': 'ENSG00000279118', 'score': 0.28}, {'connected_gene': 'ALDH7A1', 'score': 0.21}]
chr5 GH05I126664 126664154 126665673 0.38 [{'connected_gene': 'BOLA3P3', 'score': 550.77}, {'connected_gene': 'GC05M126665', 'score': 550.77}, {'connected_gene': 'ALDH7A1', 'score': 18.57}, {'connected_gene': 'TEX43', 'score': 12.44}, {'connected_gene': 'RPLP1P7', 'score': 12.42}, {'connected_gene': 'PHAX', 'score': 12.36}, {'connected_gene': 'LOC105379162', 'score': 0.39}]
chr5 GH05I126599 126599089 126602379 2.05 [{'connected_gene': 'PHAX', 'score': 550.77}, {'connected_gene': 'ALDH7A1', 'score': 7.92}, {'connected_gene': 'GC05M126628', 'score': 0.31}]
chr5 GH05I126747 126747389 126749281 1.4 [{'connected_gene': 'PHAX', 'score': 21.48}, {'connected_gene': 'LMNB1-DT', 'score': 12.47}, {'connected_gene': 'LMNB1', 'score': 12.47}, {'connected_gene': 'ALDH7A1', 'score': 4.98}, {'connected_gene': 'GC05P126739', 'score': 0.44}, {'connected_gene': 'RNU6-752P', 'score': 0.44}]
chr5 GH05I126476 126476055 126481476 0.43 [{'connected_gene': 'ALDH7A1', 'score': 11.03}, {'connected_gene': 'GRAMD2B', 'score': 5.44}, {'connected_gene': 'ENSG00000250602', 'score': 0.39}, {'connected_gene': 'LOC101927514', 'score': 0.18}]
chr5 GH05I126543 126543434 126544362 0.92 [{'connected_gene': 'ALDH7A1', 'score': 15.78}, {'connected_gene': 'PHAX', 'score': 11.23}, {'connected_gene': 'RPLP1P7', 'score': 11.19}, {'connected_gene': 'TEX43', 'score': 11.18}, {'connected_gene': 'ENSG00000250602', 'score': 10.78}, {'connected_gene': 'GRAMD2B', 'score': 10.63}, {'connected_gene': 'GC05M126556', 'score': 0.44}, {'connected_gene': 'ENSG00000279118', 'score': 0.25}]
chr5 GH05I126596 126596551 126597898 0.69 [{'connected_gene': 'ALDH7A1', 'score': 565.8}, {'connected_gene': 'PHAX', 'score': 0.77}]
chr5 GH05I126622 126622922 126625944 0.91 [{'connected_gene': 'ALDH7A1', 'score': 7.45}, {'connected_gene': 'GC05M126628', 'score': 0.77}, {'connected_gene': 'PHAX', 'score': 0.34}]
chr5 GH05I126592 126592816 126595927 2.02 [{'connected_gene': 'ALDH7A1', 'score': 567.2}, {'connected_gene': 'RPLP1P7', 'score': 12.76}, {'connected_gene': 'TEX43', 'score': 12.74}, {'connected_gene': 'ENSG00000250602', 'score': 9.77}, {'connected_gene': 'GRAMD2B', 'score': 9.7}, {'connected_gene': 'RNU6-290P', 'score': 0.26}]
chr5 GH05I126699 126699601 126700200 0.49 [{'connected_gene': 'LMNB1', 'score': 11.77}, {'connected_gene': 'LMNB1-DT', 'score': 11.77}, {'connected_gene': 'RNU6-752P', 'score': 11.59}, {'connected_gene': 'ALDH7A1', 'score': 10.69}, {'connected_gene': 'ENSG00000250602', 'score': 9.39}, {'connected_gene': 'GRAMD2B', 'score': 9.36}, {'connected_gene': 'MARCH3', 'score': 9.08}, {'connected_gene': 'LOC105379162', 'score': 0.34}, {'connected_gene': 'HSPE1P10', 'score': 0.28}]
chr5 GH05I126679 126679543 126681483 1.32 [{'connected_gene': 'LMNB1', 'score': 16.27}, {'connected_gene': 'LMNB1-DT', 'score': 12.52}, {'connected_gene': 'RNU6-752P', 'score': 11.22}, {'connected_gene': 'ALDH7A1', 'score': 4.97}, {'connected_gene': 'LOC105379162', 'score': 0.44}, {'connected_gene': 'HSPE1P10', 'score': 0.22}]
chr5 GH05I126660 126660201 126660551 0.2 [{'connected_gene': 'TEX43', 'score': 12.46}, {'connected_gene': 'RPLP1P7', 'score': 12.44}, {'connected_gene': 'PHAX', 'score': 12.36}, {'connected_gene': 'ALDH7A1', 'score': 12.36}, {'connected_gene': 'RNU6-752P', 'score': 10.43}, {'connected_gene': 'GC05M126665', 'score': 0.77}]
chr5 GH05I126759 126759808 126763556 1.51 [{'connected_gene': 'PRRC1', 'score': 21.04}, {'connected_gene': 'CCDC192', 'score': 12.1}, {'connected_gene': 'PHAX', 'score': 10.57}, {'connected_gene': 'ALDH7A1', 'score': 6.34}, {'connected_gene': 'RNU6-752P', 'score': 0.44}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'LMNB1-DT', 'score': 0.37}]
chr5 GH05I126591 126591569 126591917 0.31 [{'connected_gene': 'RPLP1P7', 'score': 12.11}, {'connected_gene': 'TEX43', 'score': 12.11}, {'connected_gene': 'ENSG00000250602', 'score': 9.77}, {'connected_gene': 'GRAMD2B', 'score': 9.7}, {'connected_gene': 'ALDH7A1', 'score': 0.77}, {'connected_gene': 'RNU6-290P', 'score': 0.28}]
chr5 GH05I126821 126821272 126828653 0.31 [{'connected_gene': 'MARCH3', 'score': 15.32}, {'connected_gene': 'LMNB1-DT', 'score': 11.34}, {'connected_gene': 'LMNB1', 'score': 11.34}, {'connected_gene': 'RNU6-752P', 'score': 10.55}, {'connected_gene': 'ALDH7A1', 'score': 5.07}, {'connected_gene': 'GC05M126868', 'score': 0.26}]
chr5 GH05I126787 126787646 126792088 0.68 [{'connected_gene': 'RNU6-752P', 'score': 11.62}, {'connected_gene': 'PHAX', 'score': 10.56}, {'connected_gene': 'MARCH3', 'score': 10.19}, {'connected_gene': 'CCDC192', 'score': 10.09}, {'connected_gene': 'ALDH7A1', 'score': 5.16}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'LMNB1-DT', 'score': 0.39}, {'connected_gene': 'GC05M126868', 'score': 0.18}]
chr5 GH05I126786 126786033 126787497 0.43 [{'connected_gene': 'RNU6-752P', 'score': 11.62}, {'connected_gene': 'ALDH7A1', 'score': 5.17}, {'connected_gene': 'LMNB1-DT', 'score': 0.44}, {'connected_gene': 'LMNB1', 'score': 0.39}, {'connected_gene': 'GC05M126868', 'score': 0.18}]
chr5 GH05I126717 126717588 126720278 0.2 [{'connected_gene': 'RNU6-752P', 'score': 11.92}, {'connected_gene': 'LMNB1-DT', 'score': 11.66}, {'connected_gene': 'LMNB1', 'score': 11.66}, {'connected_gene': 'ALDH7A1', 'score': 6.93}, {'connected_gene': 'HSPE1P10', 'score': 0.37}, {'connected_gene': 'LOC105379162', 'score': 0.26}]
chr5 GH05I126713 126713000 126713201 0.74 [{'connected_gene': 'RNU6-752P', 'score': 11.91}, {'connected_gene': 'LMNB1-DT', 'score': 11.54}, {'connected_gene': 'LMNB1', 'score': 11.54}, {'connected_gene': 'ALDH7A1', 'score': 6.98}, {'connected_gene': 'HSPE1P10', 'score': 0.34}, {'connected_gene': 'LOC105379162', 'score': 0.28}]
chr5 GH05I126675 126675709 126676870 1.12 [{'connected_gene': 'LOC105379162', 'score': 550.77}, {'connected_gene': 'LMNB1-DT', 'score': 12.51}, {'connected_gene': 'LMNB1', 'score': 12.51}, {'connected_gene': 'RNU6-752P', 'score': 11.21}, {'connected_gene': 'ALDH7A1', 'score': 5.48}, {'connected_gene': 'HSPE1P10', 'score': 0.21}]
chr5 GH05I126648 126648387 126649805 0.89 [{'connected_gene': 'LMNB1-DT', 'score': 10.59}, {'connected_gene': 'LMNB1', 'score': 10.59}, {'connected_gene': 'ALDH7A1', 'score': 8.09}, {'connected_gene': 'GC05M126665', 'score': 0.39}, {'connected_gene': 'TEX43', 'score': 0.37}]
chr5 GH05I126808 126808002 126812731 1.05 [{'connected_gene': 'LMNB1-DT', 'score': 11.77}, {'connected_gene': 'LMNB1', 'score': 11.77}, {'connected_gene': 'MARCH3', 'score': 10.59}, {'connected_gene': 'RNU6-752P', 'score': 10.57}, {'connected_gene': 'ALDH7A1', 'score': 5.06}, {'connected_gene': 'GC05M126868', 'score': 0.22}]
chr5 GH05I126775 126775413 126780571 2.32 [{'connected_gene': 'LMNB1-DT', 'score': 550.77}, {'connected_gene': 'LMNB1', 'score': 550.77}, {'connected_gene': 'RNU6-752P', 'score': 11.6}, {'connected_gene': 'ALDH7A1', 'score': 5.69}, {'connected_gene': 'GC05M126868', 'score': 0.16}]
chr5 GH05I126394 126394199 126395932 0.79 [{'connected_gene': 'LOC101927514', 'score': 550.77}, {'connected_gene': 'GRAMD2B', 'score': 10.35}, {'connected_gene': 'TEX43', 'score': 1.99}, {'connected_gene': 'ALDH7A1', 'score': 1.75}]
chr5 GH05I126444 126444048 126452011 1.41 [{'connected_gene': 'ENSG00000250602', 'score': 11.36}, {'connected_gene': 'GRAMD2B', 'score': 11.27}, {'connected_gene': 'ALDH7A1', 'score': 4.19}, {'connected_gene': 'LOC101927514', 'score': 0.23}]
chr5 GH05I126512 126512540 126517598 1.41 [{'connected_gene': 'ENSG00000250602', 'score': 12.61}, {'connected_gene': 'GRAMD2B', 'score': 12.38}, {'connected_gene': 'ALDH7A1', 'score': 5.92}, {'connected_gene': 'ENSG00000279118', 'score': 0.37}, {'connected_gene': 'GC05M126556', 'score': 0.28}]
chr5 GH05I126540 126540669 126540974 0.2 [{'connected_gene': 'ENSG00000250602', 'score': 11.15}, {'connected_gene': 'GRAMD2B', 'score': 11.0}, {'connected_gene': 'ALDH7A1', 'score': 4.48}, {'connected_gene': 'GC05M126556', 'score': 0.39}, {'connected_gene': 'ENSG00000279118', 'score': 0.26}]
chr5 GH05I126538 126538648 126539898 1.1 [{'connected_gene': 'ENSG00000250602', 'score': 11.39}, {'connected_gene': 'GRAMD2B', 'score': 11.24}, {'connected_gene': 'ALDH7A1', 'score': 6.14}, {'connected_gene': 'GC05M126556', 'score': 0.39}, {'connected_gene': 'ENSG00000279118', 'score': 0.26}]
chr5 GH05I126531 126530866 126531483 0.2 [{'connected_gene': 'ENSG00000250602', 'score': 11.22}, {'connected_gene': 'GRAMD2B', 'score': 11.05}, {'connected_gene': 'GC05M126556', 'score': 0.34}, {'connected_gene': 'ENSG00000279118', 'score': 0.29}, {'connected_gene': 'ALDH7A1', 'score': 0.21}]
chr5 GH05I126551 126551702 126551858 0.2 [{'connected_gene': 'GC05M126556', 'score': 550.77}, {'connected_gene': 'RNU6-290P', 'score': 550.77}, {'connected_gene': 'ALDH7A1', 'score': 0.26}, {'connected_gene': 'ENSG00000279118', 'score': 0.22}]

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