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
ENST00000220913 [[141521396, 141521745], [141524467, 141524594], [141525224, 141527236]] [[141521598, 141521745], [141524467, 141524594], [141525224, 141525346]]
ENST00000519533 [[141521409, 141521745], [141525224, 141526566]] [[141521598, 141521745], [141525224, 141525248]]
ENST00000518971 [[141522016, 141522124], [141524467, 141525284]] [[141522016, 141522124], [141524467, 141524602]]
ENST00000519618 [[141522080, 141522124], [141524467, 141524594], [141525224, 141525864]] [[141522080, 141522124], [141524467, 141524594], [141525224, 141525346]]
ENST00000523569 [[141524392, 141524594], [141525224, 141525640]] None
NR_023360 [[141521396, 141521745], [141525224, 141527252]] None
NM_017444 [[141521396, 141521745], [141524467, 141524594], [141525224, 141527252]] [[141521598, 141521745], [141524467, 141524594], [141525224, 141525346]]
NR_040712 [[141522080, 141522124], [141524467, 141524594], [141525224, 141527252]] None
Promoter
Chrom Start End Description
chr8 141521386 141521469 CAGE_peak_1_at_CHRAC1_5end
chr8 141521474 141521485 CAGE_peak_6_at_CHRAC1_5end
chr8 141521493 141521532 CAGE_peak_2_at_CHRAC1_5end
chr8 141521540 141521557 CAGE_peak_3_at_CHRAC1_5end
chr8 141521568 141521589 CAGE_peak_4_at_CHRAC1_5end
chr8 141522072 141522104 CAGE_peak_5_at_CHRAC1_5end
chr8 141524036 141524040 CAGE_peak_11_at_CHRAC1_5end
Enhancer
Chrom Start End Genehancer ID Score Attributes
chr8 GH08I140456 140456361 140461198 2.31 [{'connected_gene': 'TRAPPC9', 'score': 561.37}, {'connected_gene': 'CHRAC1', 'score': 16.6}, {'connected_gene': 'AGO2', 'score': 12.12}, {'connected_gene': 'ENSG00000259891', 'score': 9.98}, {'connected_gene': 'PIR60466', 'score': 0.44}]
chr8 GH08I140446 140446581 140447227 0.72 [{'connected_gene': 'TRAPPC9', 'score': 11.52}, {'connected_gene': 'CHRAC1', 'score': 10.96}, {'connected_gene': 'ENSG00000253307', 'score': 5.18}, {'connected_gene': 'GC08P140430', 'score': 0.37}]
chr8 GH08I141004 141004338 141005802 1.14 [{'connected_gene': 'PTK2', 'score': 7.33}, {'connected_gene': 'AGO2', 'score': 5.47}, {'connected_gene': 'CHRAC1', 'score': 4.56}, {'connected_gene': 'LOC105375783', 'score': 0.37}]
chr8 GH08I140438 140438293 140438941 0.46 [{'connected_gene': 'CHRAC1', 'score': 10.92}, {'connected_gene': 'TRAPPC9', 'score': 7.13}, {'connected_gene': 'GC08P140430', 'score': 0.44}]
chr8 GH08I140444 140444539 140446044 0.96 [{'connected_gene': 'CHRAC1', 'score': 10.96}, {'connected_gene': 'TRAPPC9', 'score': 7.79}, {'connected_gene': 'GC08P140430', 'score': 0.37}]
chr8 GH08I140449 140449262 140449411 0.63 [{'connected_gene': 'CHRAC1', 'score': 10.96}, {'connected_gene': 'TRAPPC9', 'score': 0.44}, {'connected_gene': 'GC08P140430', 'score': 0.37}]
chr8 GH08I140469 140469042 140470331 1.23 [{'connected_gene': 'CHRAC1', 'score': 12.72}, {'connected_gene': 'AGO2', 'score': 11.92}, {'connected_gene': 'TRAPPC9', 'score': 7.74}, {'connected_gene': 'LOC105375782', 'score': 0.77}, {'connected_gene': 'GC08M140479', 'score': 0.39}]
chr8 GH08I140474 140474942 140475071 0.31 [{'connected_gene': 'CHRAC1', 'score': 12.7}, {'connected_gene': 'AGO2', 'score': 11.93}, {'connected_gene': 'GC08M140479', 'score': 0.44}, {'connected_gene': 'LOC105375782', 'score': 0.39}]
chr8 GH08I140467 140467201 140467681 1.24 [{'connected_gene': 'CHRAC1', 'score': 12.77}, {'connected_gene': 'AGO2', 'score': 11.73}, {'connected_gene': 'LOC105375782', 'score': 0.77}, {'connected_gene': 'GC08M140479', 'score': 0.39}]
chr8 GH08I140471 140471896 140472126 0.93 [{'connected_gene': 'CHRAC1', 'score': 12.7}, {'connected_gene': 'AGO2', 'score': 11.92}, {'connected_gene': 'GC08M140479', 'score': 0.44}, {'connected_gene': 'LOC105375782', 'score': 0.44}]
chr8 GH08I140519 140519273 140520925 0.38 [{'connected_gene': 'CHRAC1', 'score': 9.67}, {'connected_gene': 'GC08M140521', 'score': 0.44}, {'connected_gene': 'GC08P140525', 'score': 0.44}, {'connected_gene': 'AGO2', 'score': 0.13}]
chr8 GH08I140580 140579622 140581467 0.58 [{'connected_gene': 'CHRAC1', 'score': 11.76}, {'connected_gene': 'PIR41172', 'score': 0.44}, {'connected_gene': 'ENSG00000279766', 'score': 0.44}, {'connected_gene': 'AGO2', 'score': 0.21}]
chr8 GH08I140582 140582664 140583576 0.2 [{'connected_gene': 'CHRAC1', 'score': 11.75}, {'connected_gene': 'PIR41172', 'score': 0.44}, {'connected_gene': 'ENSG00000279766', 'score': 0.39}, {'connected_gene': 'AGO2', 'score': 0.22}]
chr8 GH08I140890 140890962 140892629 0.63 [{'connected_gene': 'CHRAC1', 'score': 5.16}, {'connected_gene': 'RNA5SP278', 'score': 0.25}, {'connected_gene': 'ENSG00000279786', 'score': 0.2}, {'connected_gene': 'PTK2', 'score': 0.14}]
chr8 GH08I140504 140504582 140505600 0.83 [{'connected_gene': 'CHRAC1', 'score': 5.61}, {'connected_gene': 'ENSG00000259891', 'score': 0.77}, {'connected_gene': 'GC08M140501', 'score': 0.44}, {'connected_gene': 'GC08P140482', 'score': 0.34}]
chr8 GH08I140509 140509733 140514176 2.3 [{'connected_gene': 'CHRAC1', 'score': 577.31}, {'connected_gene': 'GC08M140501', 'score': 550.77}, {'connected_gene': 'GC08P140525', 'score': 0.39}]
chr8 GH08I140496 140496020 140496785 0.8 [{'connected_gene': 'CHRAC1', 'score': 11.04}, {'connected_gene': 'GC08P140482', 'score': 0.39}, {'connected_gene': 'ENSG00000259891', 'score': 0.39}]
chr8 GH08I140514 140514202 140515973 0.31 [{'connected_gene': 'CHRAC1', 'score': 52.67}, {'connected_gene': 'GC08P140525', 'score': 0.39}]
chr8 GH08I140516 140516654 140517629 0.31 [{'connected_gene': 'CHRAC1', 'score': 37.36}, {'connected_gene': 'GC08P140525', 'score': 0.44}]
chr8 GH08I140518 140518642 140518751 0.46 [{'connected_gene': 'CHRAC1', 'score': 0.44}, {'connected_gene': 'GC08P140525', 'score': 0.44}]
chr8 GH08I140751 140751860 140753712 0.2 [{'connected_gene': 'MIR151A', 'score': 12.0}, {'connected_gene': 'PTK2', 'score': 11.73}, {'connected_gene': 'CHRAC1', 'score': 10.02}, {'connected_gene': 'AGO2', 'score': 5.92}, {'connected_gene': 'GC08M140734', 'score': 0.37}, {'connected_gene': 'ENSG00000279786', 'score': 0.2}]
chr8 GH08I140662 140662443 140664058 0.51 [{'connected_gene': 'MIR151A', 'score': 10.9}, {'connected_gene': 'PTK2', 'score': 10.75}, {'connected_gene': 'CHRAC1', 'score': 10.14}, {'connected_gene': 'AGO2', 'score': 7.32}, {'connected_gene': 'GC08M140724', 'score': 0.21}]
chr8 GH08I140659 140659291 140660009 0.6 [{'connected_gene': 'MIR151A', 'score': 10.89}, {'connected_gene': 'PTK2', 'score': 10.75}, {'connected_gene': 'CHRAC1', 'score': 10.14}, {'connected_gene': 'AGO2', 'score': 0.37}, {'connected_gene': 'GC08M140724', 'score': 0.2}]
chr8 GH08I140763 140763576 140765405 0.84 [{'connected_gene': 'MIR151A', 'score': 12.63}, {'connected_gene': 'PTK2', 'score': 12.4}, {'connected_gene': 'AGO2', 'score': 6.01}, {'connected_gene': 'CHRAC1', 'score': 4.78}, {'connected_gene': 'GC08M140734', 'score': 0.29}, {'connected_gene': 'ENSG00000279786', 'score': 0.22}]
chr8 GH08I140779 140779199 140783827 0.57 [{'connected_gene': 'MIR151A', 'score': 11.68}, {'connected_gene': 'PTK2', 'score': 11.5}, {'connected_gene': 'AGO2', 'score': 5.68}, {'connected_gene': 'CHRAC1', 'score': 4.78}, {'connected_gene': 'ENSG00000279786', 'score': 0.26}, {'connected_gene': 'GC08M140734', 'score': 0.25}]
chr8 GH08I140687 140687231 140688971 0.4 [{'connected_gene': 'MIR151A', 'score': 11.81}, {'connected_gene': 'PTK2', 'score': 11.61}, {'connected_gene': 'AGO2', 'score': 7.54}, {'connected_gene': 'CHRAC1', 'score': 4.37}, {'connected_gene': 'GC08M140724', 'score': 0.28}]
chr8 GH08I140618 140618502 140620158 1.15 [{'connected_gene': 'AGO2', 'score': 26.35}, {'connected_gene': 'CHRAC1', 'score': 11.38}, {'connected_gene': 'PTK2', 'score': 5.92}, {'connected_gene': 'ERICD', 'score': 0.37}, {'connected_gene': 'GC08P140597', 'score': 0.34}]
chr8 GH08I140602 140602484 140603783 0.58 [{'connected_gene': 'AGO2', 'score': 22.06}, {'connected_gene': 'CHRAC1', 'score': 11.73}, {'connected_gene': 'GC08P140597', 'score': 0.44}, {'connected_gene': 'ERICD', 'score': 0.29}]
chr8 GH08I140629 140629182 140632644 1.22 [{'connected_gene': 'AGO2', 'score': 14.22}, {'connected_gene': 'CHRAC1', 'score': 11.82}, {'connected_gene': 'ERICD', 'score': 0.44}, {'connected_gene': 'GC08P140597', 'score': 0.29}]
chr8 GH08I140608 140608209 140610221 0.77 [{'connected_gene': 'AGO2', 'score': 19.8}, {'connected_gene': 'CHRAC1', 'score': 11.51}, {'connected_gene': 'GC08P140597', 'score': 0.39}, {'connected_gene': 'ERICD', 'score': 0.31}]
chr8 GH08I140614 140614513 140616500 0.97 [{'connected_gene': 'AGO2', 'score': 12.05}, {'connected_gene': 'CHRAC1', 'score': 11.38}, {'connected_gene': 'GC08P140597', 'score': 0.37}, {'connected_gene': 'ERICD', 'score': 0.34}]
chr8 GH08I140621 140621382 140621491 0.66 [{'connected_gene': 'AGO2', 'score': 12.08}, {'connected_gene': 'CHRAC1', 'score': 11.37}, {'connected_gene': 'ERICD', 'score': 0.39}, {'connected_gene': 'GC08P140597', 'score': 0.34}]
chr8 GH08I140625 140625921 140628140 1.31 [{'connected_gene': 'AGO2', 'score': 13.79}, {'connected_gene': 'CHRAC1', 'score': 11.38}, {'connected_gene': 'ERICD', 'score': 0.44}, {'connected_gene': 'GC08P140597', 'score': 0.31}]
chr8 GH08I140594 140594622 140595292 1.12 [{'connected_gene': 'AGO2', 'score': 23.74}, {'connected_gene': 'CHRAC1', 'score': 11.8}, {'connected_gene': 'ENSG00000280326', 'score': 0.77}, {'connected_gene': 'GC08P140597', 'score': 0.77}]
chr8 GH08I140541 140541801 140546538 1.36 [{'connected_gene': 'AGO2', 'score': 9.72}, {'connected_gene': 'CHRAC1', 'score': 1.81}, {'connected_gene': 'GC08M140536', 'score': 0.77}, {'connected_gene': 'PIR54368', 'score': 0.37}]
chr8 GH08I140566 140566587 140569894 0.66 [{'connected_gene': 'AGO2', 'score': 21.16}, {'connected_gene': 'CHRAC1', 'score': 11.28}, {'connected_gene': 'ENSG00000279766', 'score': 0.77}, {'connected_gene': 'PIR54368', 'score': 0.44}]
chr8 GH08I140789 140789299 140792989 1.65 [{'connected_gene': 'AGO2', 'score': 12.23}, {'connected_gene': 'MIR151A', 'score': 11.67}, {'connected_gene': 'PTK2', 'score': 11.52}, {'connected_gene': 'TRAPPC9', 'score': 3.65}, {'connected_gene': 'CHRAC1', 'score': 1.4}, {'connected_gene': 'ENSG00000279786', 'score': 0.29}, {'connected_gene': 'GC08M140734', 'score': 0.22}]
chr8 GH08I140633 140633306 140638014 2.21 [{'connected_gene': 'AGO2', 'score': 562.5}, {'connected_gene': 'ERICD', 'score': 550.77}, {'connected_gene': 'CHRAC1', 'score': 11.0}, {'connected_gene': 'GC08P140597', 'score': 0.28}]
chr8 GH08I141151 141151595 141159528 1.62 [{'connected_gene': 'DENND3', 'score': 5.13}, {'connected_gene': 'CHRAC1', 'score': 4.38}, {'connected_gene': 'LOC101927963', 'score': 0.31}, {'connected_gene': 'PIR46846', 'score': 0.29}]
chr8 GH08I141056 141055762 141056662 0.56 [{'connected_gene': 'LOC105375784', 'score': 550.77}, {'connected_gene': 'PTK2', 'score': 11.77}, {'connected_gene': 'DENND3', 'score': 11.25}, {'connected_gene': 'LOC101927963', 'score': 11.24}, {'connected_gene': 'CHRAC1', 'score': 4.56}, {'connected_gene': 'GC08M141055', 'score': 0.77}, {'connected_gene': 'GC08M141054', 'score': 0.77}]
chr8 GH08I140466 140466782 140466800 0.51 [{'connected_gene': 'LOC105375782', 'score': 550.77}, {'connected_gene': 'CHRAC1', 'score': 12.77}, {'connected_gene': 'GC08M140479', 'score': 0.39}]
chr8 GH08I140462 140462937 140466454 1.5 [{'connected_gene': 'LOC105375782', 'score': 550.77}, {'connected_gene': 'PIR60466', 'score': 550.77}, {'connected_gene': 'CHRAC1', 'score': 11.84}]
chr8 GH08I140473 140473227 140474431 0.86 [{'connected_gene': 'ENSG00000259891', 'score': 28.93}, {'connected_gene': 'PTK2', 'score': 13.84}, {'connected_gene': 'CHRAC1', 'score': 12.7}, {'connected_gene': 'AGO2', 'score': 11.93}, {'connected_gene': 'TRAPPC9', 'score': 5.79}, {'connected_gene': 'GC08M140479', 'score': 0.44}, {'connected_gene': 'LOC105375782', 'score': 0.44}]
chr8 GH08I141057 141057041 141060415 1.02 [{'connected_gene': 'GC08M141055', 'score': 550.77}, {'connected_gene': 'GC08M141054', 'score': 550.77}, {'connected_gene': 'PTK2', 'score': 11.76}, {'connected_gene': 'DENND3', 'score': 11.27}, {'connected_gene': 'LOC101927963', 'score': 11.24}, {'connected_gene': 'CHRAC1', 'score': 4.49}, {'connected_gene': 'LOC105375784', 'score': 0.77}]
chr8 GH08I140479 140479079 140480611 1.03 [{'connected_gene': 'GC08M140479', 'score': 550.77}, {'connected_gene': 'CHRAC1', 'score': 12.81}, {'connected_gene': 'AGO2', 'score': 11.92}, {'connected_gene': 'LOC105375782', 'score': 0.39}]
chr8 GH08I140522 140522565 140523221 0.38 [{'connected_gene': 'GC08P140525', 'score': 0.77}, {'connected_gene': 'GC08M140521', 'score': 0.44}, {'connected_gene': 'CHRAC1', 'score': 0.39}, {'connected_gene': 'AGO2', 'score': 0.13}]
chr8 GH08I140506 140506642 140509461 1.19 [{'connected_gene': 'ENSG00000259891', 'score': 550.77}, {'connected_gene': 'CHRAC1', 'score': 38.31}, {'connected_gene': 'GC08M140501', 'score': 0.77}]
chr8 GH08I140585 140585131 140594366 1.68 [{'connected_gene': 'PIR41172', 'score': 550.77}, {'connected_gene': 'ENSG00000280326', 'score': 550.77}, {'connected_gene': 'AGO2', 'score': 16.95}, {'connected_gene': 'TRAPPC9', 'score': 2.68}, {'connected_gene': 'CHRAC1', 'score': 2.34}, {'connected_gene': 'ENSG00000279766', 'score': 0.37}]
chr8 GH08I140596 140596036 140600543 1.66 [{'connected_gene': 'GC08P140597', 'score': 550.77}, {'connected_gene': 'AGO2', 'score': 28.94}, {'connected_gene': 'CHRAC1', 'score': 13.35}, {'connected_gene': 'TRAPPC9', 'score': 1.92}, {'connected_gene': 'ERICD', 'score': 0.28}]
chr8 GH08I140563 140563499 140564393 0.2 [{'connected_gene': 'PIR54368', 'score': 550.77}, {'connected_gene': 'AGO2', 'score': 17.48}, {'connected_gene': 'CHRAC1', 'score': 11.29}, {'connected_gene': 'ENSG00000279766', 'score': 0.44}]

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